Dépouillements

Degraded inferior colliculus responses to complex sounds in prenatally exposed VPA rats / Yuko TAMAOKI in Journal of Neurodevelopmental Disorders, 16 (2024)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 16 (2024) Titre : Degraded inferior colliculus responses to complex sounds in prenatally exposed VPA rats Type de document : texte imprimé Auteurs : Yuko TAMAOKI, Auteur ; Varun PASAPULA, Auteur ; Collin CHANDLER, Auteur ; Michael S. BORLAND, Auteur ; Olayinka I. OLAJUBUTU, Auteur ; Liza S. THARAKAN, Auteur ; Crystal T. ENGINEER, Auteur Langues : Anglais (eng) Mots-clés : Pregnancy  Female  Rats  Animals  Valproic Acid/pharmacology  Inferior Colliculi/metabolism  Rats, Sprague-Dawley  Autism Spectrum Disorder/chemically induced/metabolism  Auditory Perception/physiology  Auditory processing  Autism  Inferior colliculus  Valproic acid  that they have no competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Individuals with autism spectrum disorders (ASD) often exhibit altered sensory processing and deficits in language development. Prenatal exposure to valproic acid (VPA) increases the risk for ASD and impairs both receptive and expressive language. Like individuals with ASD, rodents prenatally exposed to VPA exhibit degraded auditory cortical processing and abnormal neural activity to sounds. Disrupted neuronal morphology has been documented in earlier processing areas of the auditory pathway in VPA-exposed rodents, but there are no studies documenting early auditory pathway physiology. Therefore, the objective of this study is to characterize inferior colliculus (IC) responses to different sounds in rats prenatally exposed to VPA compared to saline-exposed rats. METHODS: In vivo extracellular multiunit recordings from the inferior colliculus were collected in response to tones, speech sounds, and noise burst trains. RESULTS: Our results indicate that the overall response to speech sounds was degraded in VPA-exposed rats compared to saline-exposed controls, but responses to tones and noise burst trains were unaltered. CONCLUSIONS: These results are consistent with observations in individuals with autism that neural responses to complex sounds, like speech, are often altered, and lays the foundation for future studies of potential therapeutics to improve auditory processing in the VPA rat model of ASD. En ligne : https://dx.doi.org/10.1186/s11689-023-09514-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575 [article] Degraded inferior colliculus responses to complex sounds in prenatally exposed VPA rats [texte imprimé] / Yuko TAMAOKI, Auteur ; Varun PASAPULA, Auteur ; Collin CHANDLER, Auteur ; Michael S. BORLAND, Auteur ; Olayinka I. OLAJUBUTU, Auteur ; Liza S. THARAKAN, Auteur ; Crystal T. ENGINEER, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 16 (2024) Mots-clés : Pregnancy  Female  Rats  Animals  Valproic Acid/pharmacology  Inferior Colliculi/metabolism  Rats, Sprague-Dawley  Autism Spectrum Disorder/chemically induced/metabolism  Auditory Perception/physiology  Auditory processing  Autism  Inferior colliculus  Valproic acid  that they have no competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Individuals with autism spectrum disorders (ASD) often exhibit altered sensory processing and deficits in language development. Prenatal exposure to valproic acid (VPA) increases the risk for ASD and impairs both receptive and expressive language. Like individuals with ASD, rodents prenatally exposed to VPA exhibit degraded auditory cortical processing and abnormal neural activity to sounds. Disrupted neuronal morphology has been documented in earlier processing areas of the auditory pathway in VPA-exposed rodents, but there are no studies documenting early auditory pathway physiology. Therefore, the objective of this study is to characterize inferior colliculus (IC) responses to different sounds in rats prenatally exposed to VPA compared to saline-exposed rats. METHODS: In vivo extracellular multiunit recordings from the inferior colliculus were collected in response to tones, speech sounds, and noise burst trains. RESULTS: Our results indicate that the overall response to speech sounds was degraded in VPA-exposed rats compared to saline-exposed controls, but responses to tones and noise burst trains were unaltered. CONCLUSIONS: These results are consistent with observations in individuals with autism that neural responses to complex sounds, like speech, are often altered, and lays the foundation for future studies of potential therapeutics to improve auditory processing in the VPA rat model of ASD. En ligne : https://dx.doi.org/10.1186/s11689-023-09514-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575

White matter microstructure of children with sensory over-responsivity is associated with affective behavior / Jamie WREN-JARVIS in Journal of Neurodevelopmental Disorders, 16 (2024)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 16 (2024) Titre : White matter microstructure of children with sensory over-responsivity is associated with affective behavior Type de document : texte imprimé Auteurs : Jamie WREN-JARVIS, Auteur ; Rachel POWERS, Auteur ; Maia C. LAZERWITZ, Auteur ; Jaclyn XIAO, Auteur ; Lanya T. CAI, Auteur ; Hannah L. CHOI, Auteur ; Annie BRANDES-AITKEN, Auteur ; Robyn CHU, Auteur ; Kaitlyn J. TRIMARCHI, Auteur ; Rafael D. GARCIA, Auteur ; Mikaela A. ROWE, Auteur ; Mary C. STEELE, Auteur ; Elysa J. MARCO, Auteur ; Pratik MUKHERJEE, Auteur Langues : Anglais (eng) Mots-clés : Male  Child  Female  Humans  White Matter/diagnostic imaging  Diffusion Tensor Imaging/methods  Diffusion Magnetic Resonance Imaging  Magnetic Resonance Imaging  Cerebellum  Dti  Depression  Mri  Sensory over-responsivity  Sensory processing disorder  Somatization  White matter  commercial or financial relationships that could be construed as a potential  conflict of interest. Index. décimale : PER Périodiques Résumé : BACKGROUND: Sensory processing dysfunction (SPD) is linked to altered white matter (WM) microstructure in school-age children. Sensory over-responsivity (SOR), a form of SPD, affects at least 2.5% of all children and has substantial deleterious impact on learning and mental health. However, SOR has not been well studied using microstructural imaging such as diffusion MRI (dMRI). Since SOR involves hypersensitivity to external stimuli, we test the hypothesis that children with SOR require compensatory neuroplasticity in the form of superior WM microstructural integrity to protect against internalizing behavior, leaving those with impaired WM microstructure vulnerable to somatization and depression. METHODS: Children ages 8-12 years old with neurodevelopmental concerns were assessed for SOR using a comprehensive structured clinical evaluation, the Sensory Processing 3 Dimensions Assessment, and underwent 3 Tesla MRI with multishell multiband dMRI. Tract-based spatial statistics was used to measure diffusion tensor imaging (DTI) and neurite orientation dispersion and density imaging (NODDI) metrics from global WM and nineteen selected WM tracts. Correlations of DTI and NODDI measures with measures of somatization and emotional disturbance from the Behavioral Assessment System for Children, 3rd edition (BASC-3), were computed in the SOR group and in matched children with neurodevelopmental concerns but not SOR. RESULTS: Global WM fractional anisotropy (FA) is negatively correlated with somatization and with emotional disturbance in the SOR group but not the non-SOR group. Also observed in children with SOR are positive correlations of radial diffusivity (RD) and free water fraction (FISO) with somatization and, in most cases, emotional disturbance. These effects are significant in boys with SOR, whereas the study is underpowered for girls. The most affected white matter are medial lemniscus and internal capsule sensory tracts, although effects of SOR are observed in many cerebral, cerebellar, and brainstem tracts. CONCLUSION: White matter microstructure is related to affective behavior in children with SOR. En ligne : https://dx.doi.org/10.1186/s11689-023-09513-w Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575 [article] White matter microstructure of children with sensory over-responsivity is associated with affective behavior [texte imprimé] / Jamie WREN-JARVIS, Auteur ; Rachel POWERS, Auteur ; Maia C. LAZERWITZ, Auteur ; Jaclyn XIAO, Auteur ; Lanya T. CAI, Auteur ; Hannah L. CHOI, Auteur ; Annie BRANDES-AITKEN, Auteur ; Robyn CHU, Auteur ; Kaitlyn J. TRIMARCHI, Auteur ; Rafael D. GARCIA, Auteur ; Mikaela A. ROWE, Auteur ; Mary C. STEELE, Auteur ; Elysa J. MARCO, Auteur ; Pratik MUKHERJEE, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 16 (2024) Mots-clés : Male  Child  Female  Humans  White Matter/diagnostic imaging  Diffusion Tensor Imaging/methods  Diffusion Magnetic Resonance Imaging  Magnetic Resonance Imaging  Cerebellum  Dti  Depression  Mri  Sensory over-responsivity  Sensory processing disorder  Somatization  White matter  commercial or financial relationships that could be construed as a potential  conflict of interest. Index. décimale : PER Périodiques Résumé : BACKGROUND: Sensory processing dysfunction (SPD) is linked to altered white matter (WM) microstructure in school-age children. Sensory over-responsivity (SOR), a form of SPD, affects at least 2.5% of all children and has substantial deleterious impact on learning and mental health. However, SOR has not been well studied using microstructural imaging such as diffusion MRI (dMRI). Since SOR involves hypersensitivity to external stimuli, we test the hypothesis that children with SOR require compensatory neuroplasticity in the form of superior WM microstructural integrity to protect against internalizing behavior, leaving those with impaired WM microstructure vulnerable to somatization and depression. METHODS: Children ages 8-12 years old with neurodevelopmental concerns were assessed for SOR using a comprehensive structured clinical evaluation, the Sensory Processing 3 Dimensions Assessment, and underwent 3 Tesla MRI with multishell multiband dMRI. Tract-based spatial statistics was used to measure diffusion tensor imaging (DTI) and neurite orientation dispersion and density imaging (NODDI) metrics from global WM and nineteen selected WM tracts. Correlations of DTI and NODDI measures with measures of somatization and emotional disturbance from the Behavioral Assessment System for Children, 3rd edition (BASC-3), were computed in the SOR group and in matched children with neurodevelopmental concerns but not SOR. RESULTS: Global WM fractional anisotropy (FA) is negatively correlated with somatization and with emotional disturbance in the SOR group but not the non-SOR group. Also observed in children with SOR are positive correlations of radial diffusivity (RD) and free water fraction (FISO) with somatization and, in most cases, emotional disturbance. These effects are significant in boys with SOR, whereas the study is underpowered for girls. The most affected white matter are medial lemniscus and internal capsule sensory tracts, although effects of SOR are observed in many cerebral, cerebellar, and brainstem tracts. CONCLUSION: White matter microstructure is related to affective behavior in children with SOR. En ligne : https://dx.doi.org/10.1186/s11689-023-09513-w Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575

Assessing the integrity of auditory sensory memory processing in CLN3 disease (Juvenile Neuronal Ceroid Lipofuscinosis (Batten disease)): an auditory evoked potential study of the duration-evoked mismatch negativity (MMN) / Tufikameni BRIMA in Journal of Neurodevelopmental Disorders, 16 (2024)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 16 (2024) Titre : Assessing the integrity of auditory sensory memory processing in CLN3 disease (Juvenile Neuronal Ceroid Lipofuscinosis (Batten disease)): an auditory evoked potential study of the duration-evoked mismatch negativity (MMN) Type de document : texte imprimé Auteurs : Tufikameni BRIMA, Auteur ; Edward G. FREEDMAN, Auteur ; Kevin D. PRINSLOO, Auteur ; Erika F. AUGUSTINE, Auteur ; Heather R. ADAMS, Auteur ; Kuan Hong WANG, Auteur ; Jonathan W. MINK, Auteur ; Luke H. SHAW, Auteur ; Emma P. MANTEL, Auteur ; John J. FOXE, Auteur Langues : Anglais (eng) Mots-clés : Humans  Neuronal Ceroid-Lipofuscinoses/complications  Auditory Perception  Evoked Potentials, Auditory  Memory  Brain  Membrane Glycoproteins  Molecular Chaperones  Eeg  Erp  Event-related potential  Jncl  Lysosomal storage disorder  Neurodegenerative disease  Neurodevelopmental disorder  would bias the work reported herein. Index. décimale : PER Périodiques Résumé : BACKGROUND: We interrogated auditory sensory memory capabilities in individuals with CLN3 disease (juvenile neuronal ceroid lipofuscinosis), specifically for the feature of "duration" processing. Given decrements in auditory processing abilities associated with later-stage CLN3 disease, we hypothesized that the duration-evoked mismatch negativity (MMN) of the event related potential (ERP) would be a marker of progressively atypical cortical processing in this population, with potential applicability as a brain-based biomarker in clinical trials. METHODS: We employed three stimulation rates (fast: 450 ms, medium: 900 ms, slow: 1800 ms), allowing for assessment of the sustainability of the auditory sensory memory trace. The robustness of MMN directly relates to the rate at which the regularly occurring stimulus stream is presented. As presentation rate slows, robustness of the sensory memory trace diminishes. By manipulating presentation rate, the strength of the sensory memory trace is parametrically varied, providing greater sensitivity to detect auditory cortical dysfunction. A secondary hypothesis was that duration-evoked MMN abnormalities in CLN3 disease would be more severe at slower presentation rates, resulting from greater demand on the sensory memory system. RESULTS: Data from individuals with CLN3 disease (N = 21; range 6-28 years of age) showed robust MMN responses (i.e., intact auditory sensory memory processes) at the medium stimulation rate. However, at the fastest rate, MMN was significantly reduced, and at the slowest rate, MMN was not detectable in CLN3 disease relative to neurotypical controls (N = 41; ages 6-26 years). CONCLUSIONS: Results reveal emerging insufficiencies in this critical auditory perceptual system in individuals with CLN3 disease. En ligne : https://dx.doi.org/10.1186/s11689-023-09515-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575 [article] Assessing the integrity of auditory sensory memory processing in CLN3 disease (Juvenile Neuronal Ceroid Lipofuscinosis (Batten disease)): an auditory evoked potential study of the duration-evoked mismatch negativity (MMN) [texte imprimé] / Tufikameni BRIMA, Auteur ; Edward G. FREEDMAN, Auteur ; Kevin D. PRINSLOO, Auteur ; Erika F. AUGUSTINE, Auteur ; Heather R. ADAMS, Auteur ; Kuan Hong WANG, Auteur ; Jonathan W. MINK, Auteur ; Luke H. SHAW, Auteur ; Emma P. MANTEL, Auteur ; John J. FOXE, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 16 (2024) Mots-clés : Humans  Neuronal Ceroid-Lipofuscinoses/complications  Auditory Perception  Evoked Potentials, Auditory  Memory  Brain  Membrane Glycoproteins  Molecular Chaperones  Eeg  Erp  Event-related potential  Jncl  Lysosomal storage disorder  Neurodegenerative disease  Neurodevelopmental disorder  would bias the work reported herein. Index. décimale : PER Périodiques Résumé : BACKGROUND: We interrogated auditory sensory memory capabilities in individuals with CLN3 disease (juvenile neuronal ceroid lipofuscinosis), specifically for the feature of "duration" processing. Given decrements in auditory processing abilities associated with later-stage CLN3 disease, we hypothesized that the duration-evoked mismatch negativity (MMN) of the event related potential (ERP) would be a marker of progressively atypical cortical processing in this population, with potential applicability as a brain-based biomarker in clinical trials. METHODS: We employed three stimulation rates (fast: 450 ms, medium: 900 ms, slow: 1800 ms), allowing for assessment of the sustainability of the auditory sensory memory trace. The robustness of MMN directly relates to the rate at which the regularly occurring stimulus stream is presented. As presentation rate slows, robustness of the sensory memory trace diminishes. By manipulating presentation rate, the strength of the sensory memory trace is parametrically varied, providing greater sensitivity to detect auditory cortical dysfunction. A secondary hypothesis was that duration-evoked MMN abnormalities in CLN3 disease would be more severe at slower presentation rates, resulting from greater demand on the sensory memory system. RESULTS: Data from individuals with CLN3 disease (N = 21; range 6-28 years of age) showed robust MMN responses (i.e., intact auditory sensory memory processes) at the medium stimulation rate. However, at the fastest rate, MMN was significantly reduced, and at the slowest rate, MMN was not detectable in CLN3 disease relative to neurotypical controls (N = 41; ages 6-26 years). CONCLUSIONS: Results reveal emerging insufficiencies in this critical auditory perceptual system in individuals with CLN3 disease. En ligne : https://dx.doi.org/10.1186/s11689-023-09515-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575

Correction: Endophenotype trait domains for advancing gene discovery in autism spectrum disorder / Matthew W. MOSCONI in Journal of Neurodevelopmental Disorders, 16 (2024)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 16 (2024) Titre : Correction: Endophenotype trait domains for advancing gene discovery in autism spectrum disorder Type de document : texte imprimé Auteurs : Matthew W. MOSCONI, Auteur ; Cassandra J. STEVENS, Auteur ; Kathryn E. UNRUH, Auteur ; Robin SHAFER, Auteur ; Jed T. ELISON, Auteur Langues : Anglais (eng) Index. décimale : PER Périodiques En ligne : https://dx.doi.org/10.1186/s11689-024-09523-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575 [article] Correction: Endophenotype trait domains for advancing gene discovery in autism spectrum disorder [texte imprimé] / Matthew W. MOSCONI, Auteur ; Cassandra J. STEVENS, Auteur ; Kathryn E. UNRUH, Auteur ; Robin SHAFER, Auteur ; Jed T. ELISON, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 16 (2024) Index. décimale : PER Périodiques En ligne : https://dx.doi.org/10.1186/s11689-024-09523-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575

Overcoming genetic and cellular complexity to study the pathophysiology of X-linked intellectual disabilities / Dayne MARTINEZ in Journal of Neurodevelopmental Disorders, 16 (2024)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 16 (2024) Titre : Overcoming genetic and cellular complexity to study the pathophysiology of X-linked intellectual disabilities Type de document : texte imprimé Auteurs : Dayne MARTINEZ, Auteur ; Evan JIANG, Auteur ; Zhaolan ZHOU, Auteur Langues : Anglais (eng) Mots-clés : Female  Humans  Pregnancy  Chromosomes, Human, X  Genes, X-Linked/genetics  Intellectual Disability/genetics  Mosaicism  X Chromosome Inactivation/genetics Index. décimale : PER Périodiques Résumé : X-linked genetic causes of intellectual disability (ID) account for a substantial proportion of cases and remain poorly understood, in part due to the heterogeneous expression of X-linked genes in females. This is because most genes on the X chromosome are subject to random X chromosome inactivation (XCI) during early embryonic development, which results in a mosaic pattern of gene expression for a given X-linked mutant allele. This mosaic expression produces substantial complexity, especially when attempting to study the already complicated neural circuits that underly behavior, thus impeding the understanding of disease-related pathophysiology and the development of therapeutics. Here, we review a few selected X-linked forms of ID that predominantly affect heterozygous females and the current obstacles for developing effective therapies for such disorders. We also propose a genetic strategy to overcome the complexity presented by mosaicism in heterozygous females and highlight specific tools for studying synaptic and circuit mechanisms, many of which could be shared across multiple forms of intellectual disability. En ligne : https://dx.doi.org/10.1186/s11689-024-09517-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575 [article] Overcoming genetic and cellular complexity to study the pathophysiology of X-linked intellectual disabilities [texte imprimé] / Dayne MARTINEZ, Auteur ; Evan JIANG, Auteur ; Zhaolan ZHOU, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 16 (2024) Mots-clés : Female  Humans  Pregnancy  Chromosomes, Human, X  Genes, X-Linked/genetics  Intellectual Disability/genetics  Mosaicism  X Chromosome Inactivation/genetics Index. décimale : PER Périodiques Résumé : X-linked genetic causes of intellectual disability (ID) account for a substantial proportion of cases and remain poorly understood, in part due to the heterogeneous expression of X-linked genes in females. This is because most genes on the X chromosome are subject to random X chromosome inactivation (XCI) during early embryonic development, which results in a mosaic pattern of gene expression for a given X-linked mutant allele. This mosaic expression produces substantial complexity, especially when attempting to study the already complicated neural circuits that underly behavior, thus impeding the understanding of disease-related pathophysiology and the development of therapeutics. Here, we review a few selected X-linked forms of ID that predominantly affect heterozygous females and the current obstacles for developing effective therapies for such disorders. We also propose a genetic strategy to overcome the complexity presented by mosaicism in heterozygous females and highlight specific tools for studying synaptic and circuit mechanisms, many of which could be shared across multiple forms of intellectual disability. En ligne : https://dx.doi.org/10.1186/s11689-024-09517-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575

Outcome measures in Angelman syndrome / Doesjka A. HAGENAAR in Journal of Neurodevelopmental Disorders, 16 (2024)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 16 (2024) Titre : Outcome measures in Angelman syndrome Type de document : texte imprimé Auteurs : Doesjka A. HAGENAAR, Auteur ; Karen G.C.B. BINDELS-DE HEUS, Auteur ; Maud M. VAN GILS, Auteur ; Louise VAN DEN BERG, Auteur ; Leontine W. TEN HOOPEN, Auteur ; Philine AFFOURTIT, Auteur ; Johan J.M. PEL, Auteur ; Koen F.M. JOOSTEN, Auteur ; Manon H.J. HILLEGERS, Auteur ; Henriette A. MOLL, Auteur ; Marie-Claire Y. DE WIT, Auteur ; Gwen C. DIELEMAN, Auteur ; Sabine E. MOUS, Auteur Langues : Anglais (eng) Mots-clés : Child  Humans  Angelman Syndrome/complications/diagnosis  Reproducibility of Results  Body Composition  Plethysmography/methods  Electric Impedance  Angelman syndrome  Bod pod  Bio-impedance analysis  Eye-tracking  Functional near-Infrared Spectroscopy  Indirect calorimetry  Outcome measures  hospital received funding for this study. The hospital also received compensation  for advice to Roche and Jazz Pharmaceuticals. The department of Child- and  Adolescent Psychiatry/Psychology (Erasmus MC) is the Dutch distributer of the  Achenbach System of Empirically Based Assessment (ASEBA) measurement instruments,  which include the Child Behaviour Checklist (CBCL). The department receives  financial compensation for selling the measurement instruments. All other authors  have no conflict of interest to declare. Index. décimale : PER Périodiques Résumé : BACKGROUND: Angelman syndrome (AS) is a rare neurodevelopmental disorder characterized by severe intellectual disability, little to no expressive speech, visual and motor problems, emotional/behavioral challenges, and a tendency towards hyperphagia and weight gain. The characteristics of AS make it difficult to measure these children's functioning with standard clinical tests. Feasible outcome measures are needed to measure current functioning and change over time, in clinical practice and clinical trials. AIM: Our first aim is to assess the feasibility of several functional tests. We target domains of neurocognitive functioning and physical growth using the following measurement methods: eye-tracking, functional Near-Infrared Spectroscopy (fNIRS), indirect calorimetry, bio-impedance analysis (BIA), and BOD POD (air-displacement plethysmography). Our second aim is to explore the results of the above measures, in order to better understand the AS phenotype. METHODS: The study sample consisted of 28 children with AS aged 2-18 years. We defined an outcome measure as feasible when (1) at least 70% of participants successfully finished the measurement and (2) at least 60% of those participants had acceptable data quality. Adaptations to the test procedure and reasons for early termination were noted. Parents rated acceptability and importance and were invited to make recommendations to increase feasibility. The results of the measures were explored. RESULTS: Outcome measures obtained with eye-tracking and BOD POD met the definition of feasibility, while fNIRS, indirect calorimetry, and BIA did not. The most important reasons for early termination of measurements were showing signs of protest, inability to sit still and poor/no calibration (eye-tracking specific). Post-calibration was often applied to obtain valid eye-tracking results. Parents rated the BOD POD als most acceptable and fNIRS as least acceptable for their child. All outcome measures were rated to be important. Exploratory results indicated longer reaction times to high salient visual stimuli (eye-tracking) as well as high body fat percentage (BOD POD). CONCLUSIONS: Eye-tracking and BOD POD are feasible measurement methods for children with AS. Eye-tracking was successfully used to assess visual orienting functions in the current study and (with some practical adaptations) can potentially be used to assess other outcomes as well. BOD POD was successfully used to examine body composition. TRIAL REGISTRATION: Registered d.d. 23-04-2020 under number 'NL8550' in the Dutch Trial Register: https://onderzoekmetmensen.nl/en/trial/23075. En ligne : https://dx.doi.org/10.1186/s11689-024-09516-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575 [article] Outcome measures in Angelman syndrome [texte imprimé] / Doesjka A. HAGENAAR, Auteur ; Karen G.C.B. BINDELS-DE HEUS, Auteur ; Maud M. VAN GILS, Auteur ; Louise VAN DEN BERG, Auteur ; Leontine W. TEN HOOPEN, Auteur ; Philine AFFOURTIT, Auteur ; Johan J.M. PEL, Auteur ; Koen F.M. JOOSTEN, Auteur ; Manon H.J. HILLEGERS, Auteur ; Henriette A. MOLL, Auteur ; Marie-Claire Y. DE WIT, Auteur ; Gwen C. DIELEMAN, Auteur ; Sabine E. MOUS, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 16 (2024) Mots-clés : Child  Humans  Angelman Syndrome/complications/diagnosis  Reproducibility of Results  Body Composition  Plethysmography/methods  Electric Impedance  Angelman syndrome  Bod pod  Bio-impedance analysis  Eye-tracking  Functional near-Infrared Spectroscopy  Indirect calorimetry  Outcome measures  hospital received funding for this study. The hospital also received compensation  for advice to Roche and Jazz Pharmaceuticals. The department of Child- and  Adolescent Psychiatry/Psychology (Erasmus MC) is the Dutch distributer of the  Achenbach System of Empirically Based Assessment (ASEBA) measurement instruments,  which include the Child Behaviour Checklist (CBCL). The department receives  financial compensation for selling the measurement instruments. All other authors  have no conflict of interest to declare. Index. décimale : PER Périodiques Résumé : BACKGROUND: Angelman syndrome (AS) is a rare neurodevelopmental disorder characterized by severe intellectual disability, little to no expressive speech, visual and motor problems, emotional/behavioral challenges, and a tendency towards hyperphagia and weight gain. The characteristics of AS make it difficult to measure these children's functioning with standard clinical tests. Feasible outcome measures are needed to measure current functioning and change over time, in clinical practice and clinical trials. AIM: Our first aim is to assess the feasibility of several functional tests. We target domains of neurocognitive functioning and physical growth using the following measurement methods: eye-tracking, functional Near-Infrared Spectroscopy (fNIRS), indirect calorimetry, bio-impedance analysis (BIA), and BOD POD (air-displacement plethysmography). Our second aim is to explore the results of the above measures, in order to better understand the AS phenotype. METHODS: The study sample consisted of 28 children with AS aged 2-18 years. We defined an outcome measure as feasible when (1) at least 70% of participants successfully finished the measurement and (2) at least 60% of those participants had acceptable data quality. Adaptations to the test procedure and reasons for early termination were noted. Parents rated acceptability and importance and were invited to make recommendations to increase feasibility. The results of the measures were explored. RESULTS: Outcome measures obtained with eye-tracking and BOD POD met the definition of feasibility, while fNIRS, indirect calorimetry, and BIA did not. The most important reasons for early termination of measurements were showing signs of protest, inability to sit still and poor/no calibration (eye-tracking specific). Post-calibration was often applied to obtain valid eye-tracking results. Parents rated the BOD POD als most acceptable and fNIRS as least acceptable for their child. All outcome measures were rated to be important. Exploratory results indicated longer reaction times to high salient visual stimuli (eye-tracking) as well as high body fat percentage (BOD POD). CONCLUSIONS: Eye-tracking and BOD POD are feasible measurement methods for children with AS. Eye-tracking was successfully used to assess visual orienting functions in the current study and (with some practical adaptations) can potentially be used to assess other outcomes as well. BOD POD was successfully used to examine body composition. TRIAL REGISTRATION: Registered d.d. 23-04-2020 under number 'NL8550' in the Dutch Trial Register: https://onderzoekmetmensen.nl/en/trial/23075. En ligne : https://dx.doi.org/10.1186/s11689-024-09516-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575

Conducting head-mounted eye-tracking research with young children with autism and children with increased likelihood of later autism diagnosis / E. PERKOVICH in Journal of Neurodevelopmental Disorders, 16 (2024)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 16 (2024) Titre : Conducting head-mounted eye-tracking research with young children with autism and children with increased likelihood of later autism diagnosis Type de document : texte imprimé Auteurs : E. PERKOVICH, Auteur ; A. LAAKMAN, Auteur ; S. MIRE, Auteur ; H. YOSHIDA, Auteur Langues : Anglais (eng) Mots-clés : Child  Humans  Child, Preschool  Autistic Disorder/complications/diagnosis  Eye-Tracking Technology  Communication  Compulsive Behavior  Intellectual Disability  Attention  Autism spectrum disorder  Eye-tracking  Social behavior  Social cognition Index. décimale : PER Périodiques Résumé : BACKGROUND: Over the past years, researchers have been using head-mounted eye-tracking systems to study young children's gaze behaviors in everyday activities through which children learn about the world. This method has great potential to further our understanding of how millisecond-level gaze behaviors create multisensory experiences and fluctuate around social environments. While this line of work can yield insight into early perceptual experiences and potential learning mechanisms, the majority of the work is exclusively conducted with typically-developing children. Sensory sensitivities, social-communication difficulties, and challenging behaviors (e.g., disruption, elopement) are common among children with developmental disorders, and they may represent potential methodological challenges for collecting high-quality data. RESULTS: In this paper, we describe our research practices of using head-mounted eye trackers with 41 autistic children and 17 children with increased likelihood of later autism diagnosis without auditory or visual impairments, including those who are minimally or nonspeaking and/or have intellectual disabilities. The success rate in gathering data among children with autism was 92.68%. 3 of 41 children failed to complete the play-session, resulting in an 86.36% success rate among 1-4-year-olds and a 100.00% success rate among 5-8-year-olds. 1 of 17 children with increased likelihood of later autism diagnosis failed to complete the play-session, resulting in a success rate of 94.11%. There were numerous "challenging" behaviors relevant to the method. The most common challenging behaviors included taking the eye-tracking device off, elopement, and becoming distressed. Overall, among children with autism, 88.8% of 1-4-year-olds and 29.4% of 5-8-year-olds exhibited at least one challenging behavior. CONCLUSIONS: Research capitalizing on this methodology has the potential to reveal early, socially-mediated gaze behaviors that are relevant for autism screening, diagnosis, and intervention purposes. We hope that our efforts in documenting our study methodology will help researchers and clinicians effectively study early naturally-occuring gaze behaviors of children during non-experimental contexts across the spectrum and other developmental disabilities using head-mounted eye-tracking. Ultimately, such applications may increase the generalizability of results, better reflect the diversity of individual characteristics, and offer new ways in which this method can contribute to the field. En ligne : https://dx.doi.org/10.1186/s11689-024-09524-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575 [article] Conducting head-mounted eye-tracking research with young children with autism and children with increased likelihood of later autism diagnosis [texte imprimé] / E. PERKOVICH, Auteur ; A. LAAKMAN, Auteur ; S. MIRE, Auteur ; H. YOSHIDA, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 16 (2024) Mots-clés : Child  Humans  Child, Preschool  Autistic Disorder/complications/diagnosis  Eye-Tracking Technology  Communication  Compulsive Behavior  Intellectual Disability  Attention  Autism spectrum disorder  Eye-tracking  Social behavior  Social cognition Index. décimale : PER Périodiques Résumé : BACKGROUND: Over the past years, researchers have been using head-mounted eye-tracking systems to study young children's gaze behaviors in everyday activities through which children learn about the world. This method has great potential to further our understanding of how millisecond-level gaze behaviors create multisensory experiences and fluctuate around social environments. While this line of work can yield insight into early perceptual experiences and potential learning mechanisms, the majority of the work is exclusively conducted with typically-developing children. Sensory sensitivities, social-communication difficulties, and challenging behaviors (e.g., disruption, elopement) are common among children with developmental disorders, and they may represent potential methodological challenges for collecting high-quality data. RESULTS: In this paper, we describe our research practices of using head-mounted eye trackers with 41 autistic children and 17 children with increased likelihood of later autism diagnosis without auditory or visual impairments, including those who are minimally or nonspeaking and/or have intellectual disabilities. The success rate in gathering data among children with autism was 92.68%. 3 of 41 children failed to complete the play-session, resulting in an 86.36% success rate among 1-4-year-olds and a 100.00% success rate among 5-8-year-olds. 1 of 17 children with increased likelihood of later autism diagnosis failed to complete the play-session, resulting in a success rate of 94.11%. There were numerous "challenging" behaviors relevant to the method. The most common challenging behaviors included taking the eye-tracking device off, elopement, and becoming distressed. Overall, among children with autism, 88.8% of 1-4-year-olds and 29.4% of 5-8-year-olds exhibited at least one challenging behavior. CONCLUSIONS: Research capitalizing on this methodology has the potential to reveal early, socially-mediated gaze behaviors that are relevant for autism screening, diagnosis, and intervention purposes. We hope that our efforts in documenting our study methodology will help researchers and clinicians effectively study early naturally-occuring gaze behaviors of children during non-experimental contexts across the spectrum and other developmental disabilities using head-mounted eye-tracking. Ultimately, such applications may increase the generalizability of results, better reflect the diversity of individual characteristics, and offer new ways in which this method can contribute to the field. En ligne : https://dx.doi.org/10.1186/s11689-024-09524-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575

Etiologic heterogeneity, pleiotropy, and polygenicity in behaviorally defined intellectual and developmental disabilities / Jessica B. GIRAULT in Journal of Neurodevelopmental Disorders, 16 (2024)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 16 (2024) Titre : Etiologic heterogeneity, pleiotropy, and polygenicity in behaviorally defined intellectual and developmental disabilities Type de document : texte imprimé Auteurs : Jessica B. GIRAULT, Auteur ; Olivia J. VEATCH, Auteur ; Hyejung WON, Auteur Langues : Anglais (eng) Mots-clés : Child  Humans  Developmental Disabilities  Intellectual Disability Index. décimale : PER Périodiques En ligne : https://dx.doi.org/10.1186/s11689-024-09526-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575 [article] Etiologic heterogeneity, pleiotropy, and polygenicity in behaviorally defined intellectual and developmental disabilities [texte imprimé] / Jessica B. GIRAULT, Auteur ; Olivia J. VEATCH, Auteur ; Hyejung WON, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 16 (2024) Mots-clés : Child  Humans  Developmental Disabilities  Intellectual Disability Index. décimale : PER Périodiques En ligne : https://dx.doi.org/10.1186/s11689-024-09526-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575

Protein Kinase A in neurological disorders / Alexander G.P. GLEBOV-MCCLOUD in Journal of Neurodevelopmental Disorders, 16 (2024)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 16 (2024) Titre : Protein Kinase A in neurological disorders Type de document : texte imprimé Auteurs : Alexander G.P. GLEBOV-MCCLOUD, Auteur ; Walter S. SAIDE, Auteur ; Marie E. GAINE, Auteur ; Stefan STRACK, Auteur Langues : Anglais (eng) Mots-clés : Humans  Cyclic AMP-Dependent Protein Kinases/genetics/metabolism  Phosphorylation  Signal Transduction  Nervous System Diseases  Creb  Cognition  Endocrine Systems  Gene transcription  Kinases  Learning  Mapk  Memory  Metabolic Disorders  Movement Disorders  Neurodegeneration  Neurodevelopment  Pka  Protein phosphorylation  cAMP Index. décimale : PER Périodiques Résumé : Cyclic adenosine 3', 5' monophosphate (cAMP)-dependent Protein Kinase A (PKA) is a multi-functional serine/threonine kinase that regulates a wide variety of physiological processes including gene transcription, metabolism, and synaptic plasticity. Genomic sequencing studies have identified both germline and somatic variants of the catalytic and regulatory subunits of PKA in patients with metabolic and neurodevelopmental disorders. In this review we discuss the classical cAMP/PKA signaling pathway and the disease phenotypes that result from PKA variants. This review highlights distinct isoform-specific cognitive deficits that occur in both PKA catalytic and regulatory subunits, and how tissue-specific distribution of these isoforms may contribute to neurodevelopmental disorders in comparison to more generalized endocrine dysfunction. En ligne : https://dx.doi.org/10.1186/s11689-024-09525-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575 [article] Protein Kinase A in neurological disorders [texte imprimé] / Alexander G.P. GLEBOV-MCCLOUD, Auteur ; Walter S. SAIDE, Auteur ; Marie E. GAINE, Auteur ; Stefan STRACK, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 16 (2024) Mots-clés : Humans  Cyclic AMP-Dependent Protein Kinases/genetics/metabolism  Phosphorylation  Signal Transduction  Nervous System Diseases  Creb  Cognition  Endocrine Systems  Gene transcription  Kinases  Learning  Mapk  Memory  Metabolic Disorders  Movement Disorders  Neurodegeneration  Neurodevelopment  Pka  Protein phosphorylation  cAMP Index. décimale : PER Périodiques Résumé : Cyclic adenosine 3', 5' monophosphate (cAMP)-dependent Protein Kinase A (PKA) is a multi-functional serine/threonine kinase that regulates a wide variety of physiological processes including gene transcription, metabolism, and synaptic plasticity. Genomic sequencing studies have identified both germline and somatic variants of the catalytic and regulatory subunits of PKA in patients with metabolic and neurodevelopmental disorders. In this review we discuss the classical cAMP/PKA signaling pathway and the disease phenotypes that result from PKA variants. This review highlights distinct isoform-specific cognitive deficits that occur in both PKA catalytic and regulatory subunits, and how tissue-specific distribution of these isoforms may contribute to neurodevelopmental disorders in comparison to more generalized endocrine dysfunction. En ligne : https://dx.doi.org/10.1186/s11689-024-09525-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575

Using team-based precision medicine to advance understanding of rare genetic brain disorders / Steven U. WALKLEY in Journal of Neurodevelopmental Disorders, 16 (2024)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 16 (2024) Titre : Using team-based precision medicine to advance understanding of rare genetic brain disorders Type de document : texte imprimé Auteurs : Steven U. WALKLEY, Auteur ; Sophie MOLHOLM, Auteur ; Bryen JORDAN, Auteur ; Robert W. MARION, Auteur ; Melissa WASSERSTEIN, Auteur Langues : Anglais (eng) Mots-clés : Child  Humans  Precision Medicine  Rare Diseases/genetics/therapy  Brain Diseases  Brain  Disease pathogenesis  Intellectual and developmental disabilities  Neurodevelopmental disorders  NextGen sequencing  Precision medicine  Rare disease Index. décimale : PER Périodiques Résumé : We describe a multidisciplinary teamwork approach known as "Operation IDD Gene Team" developed by the Rose F. Kennedy Intellectual and Developmental Disabilities Research Center (RFK IDDRC) at the Albert Einstein College of Medicine. This initiative brings families affected by rare genetic diseases that cause intellectual and developmental disability together with physicians, basic scientists, and their trainees. At team meetings, family members share their child's medical and personal history, physicians describe the broader clinical consequences of the condition, and scientists provide accessible tutorials focused on the fundamental biology of relevant genes. When appropriate, possible treatment approaches are also discussed. The outcomes of team meetings have been overwhelmingly positive, with families not only expressing deep gratitude, but also becoming empowered to establish foundations dedicated to their child's specific condition. Physicians, and in particular the scientists and their trainees, have gained a deeper understanding of challenges faced by affected families, broadening their perspective on how their research can extend beyond the laboratory. Remarkably, research by the scientists following the Gene Team meetings have often included focus on the actual gene variants exhibited by the participating children. As these investigations progress and newly created foundations expand their efforts, national as well as international collaborations are forged. These developments emphasize the importance of rare diseases as windows into previously unexplored molecular and cellular processes, which can offer fresh insights into both normal function as well as more common diseases. Elucidating the mechanisms of and treatments for rare and ultra-rare diseases thus has benefits for all involved-families, physicians, and scientists and their trainees, as well as the broader medical community. While the RFK IDDRC's Operation IDD Gene Team program has focused on intellectual disabilities affecting children, we believe it has the potential to be applied to rare genetic diseases impacting individuals of any age and encompassing a wide variety of developmental disorders affecting multiple organ systems. En ligne : https://dx.doi.org/10.1186/s11689-024-09518-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575 [article] Using team-based precision medicine to advance understanding of rare genetic brain disorders [texte imprimé] / Steven U. WALKLEY, Auteur ; Sophie MOLHOLM, Auteur ; Bryen JORDAN, Auteur ; Robert W. MARION, Auteur ; Melissa WASSERSTEIN, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 16 (2024) Mots-clés : Child  Humans  Precision Medicine  Rare Diseases/genetics/therapy  Brain Diseases  Brain  Disease pathogenesis  Intellectual and developmental disabilities  Neurodevelopmental disorders  NextGen sequencing  Precision medicine  Rare disease Index. décimale : PER Périodiques Résumé : We describe a multidisciplinary teamwork approach known as "Operation IDD Gene Team" developed by the Rose F. Kennedy Intellectual and Developmental Disabilities Research Center (RFK IDDRC) at the Albert Einstein College of Medicine. This initiative brings families affected by rare genetic diseases that cause intellectual and developmental disability together with physicians, basic scientists, and their trainees. At team meetings, family members share their child's medical and personal history, physicians describe the broader clinical consequences of the condition, and scientists provide accessible tutorials focused on the fundamental biology of relevant genes. When appropriate, possible treatment approaches are also discussed. The outcomes of team meetings have been overwhelmingly positive, with families not only expressing deep gratitude, but also becoming empowered to establish foundations dedicated to their child's specific condition. Physicians, and in particular the scientists and their trainees, have gained a deeper understanding of challenges faced by affected families, broadening their perspective on how their research can extend beyond the laboratory. Remarkably, research by the scientists following the Gene Team meetings have often included focus on the actual gene variants exhibited by the participating children. As these investigations progress and newly created foundations expand their efforts, national as well as international collaborations are forged. These developments emphasize the importance of rare diseases as windows into previously unexplored molecular and cellular processes, which can offer fresh insights into both normal function as well as more common diseases. Elucidating the mechanisms of and treatments for rare and ultra-rare diseases thus has benefits for all involved-families, physicians, and scientists and their trainees, as well as the broader medical community. While the RFK IDDRC's Operation IDD Gene Team program has focused on intellectual disabilities affecting children, we believe it has the potential to be applied to rare genetic diseases impacting individuals of any age and encompassing a wide variety of developmental disorders affecting multiple organ systems. En ligne : https://dx.doi.org/10.1186/s11689-024-09518-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575

Social skills in neurodevelopmental disorders: a study using role-plays to assess adolescents and young adults with 22q11.2 deletion syndrome and autism spectrum disorders / Clémence FELLER in Journal of Neurodevelopmental Disorders, 16 (2024)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 16 (2024) Titre : Social skills in neurodevelopmental disorders: a study using role-plays to assess adolescents and young adults with 22q11.2 deletion syndrome and autism spectrum disorders Type de document : texte imprimé Auteurs : Clémence FELLER, Auteur ; Laura ILEN, Auteur ; Stephan ELIEZ, Auteur ; Maude SCHNEIDER, Auteur Langues : Anglais (eng) Mots-clés : Humans  Adolescent  Young Adult  Social Skills  DiGeorge Syndrome/complications  Autism Spectrum Disorder/complications  Neurodevelopmental Disorders  Anxiety  22q11.2 deletion syndrome  Autism spectrum disorders  Direct observation  Role-plays Index. décimale : PER Périodiques Résumé : BACKGROUNDS: Social skills are frequently impaired in neurodevelopmental disorders and genetic conditions, including 22q11.2 deletion syndrome (22q11DS) and autism spectrum disorders (ASD). Although often assessed with questionnaires, direct assessment provides a more valid estimate of the constructs. Role-plays (i.e., simulates situational settings) therefore appear to be an appropriate indicator of social skills in daily life. METHODS: This co-registered study involved 53 individuals with 22q11DS, 34 individuals with ASD, and 64 typically developing (TD) peers aged 12-30 years. All participants were assessed with role-plays as well as parent-reported questionnaires and clinical interviews focusing on social skills, functioning and anxiety. RESULTS: Both clinical groups showed impaired social skills compared to TD, but distinct social profiles emerged between the groups. Individuals with 22q11DS displayed higher social appropriateness and clarity of speech but weaker general argumentation and negotiation skills, with the opposite pattern observed in participants with ASD. No association was found between social skills measured by direct observation and caregiver reports. Social anxiety, although higher in clinical groups than in TD, was not associated with role-plays. CONCLUSIONS: This study highlights the need to train social skills through tailored interventions to target the specific difficulties of each clinical population. It also highlights the importance of combining measures as they do not necessarily provide the same outcome. En ligne : https://dx.doi.org/10.1186/s11689-024-09527-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575 [article] Social skills in neurodevelopmental disorders: a study using role-plays to assess adolescents and young adults with 22q11.2 deletion syndrome and autism spectrum disorders [texte imprimé] / Clémence FELLER, Auteur ; Laura ILEN, Auteur ; Stephan ELIEZ, Auteur ; Maude SCHNEIDER, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 16 (2024) Mots-clés : Humans  Adolescent  Young Adult  Social Skills  DiGeorge Syndrome/complications  Autism Spectrum Disorder/complications  Neurodevelopmental Disorders  Anxiety  22q11.2 deletion syndrome  Autism spectrum disorders  Direct observation  Role-plays Index. décimale : PER Périodiques Résumé : BACKGROUNDS: Social skills are frequently impaired in neurodevelopmental disorders and genetic conditions, including 22q11.2 deletion syndrome (22q11DS) and autism spectrum disorders (ASD). Although often assessed with questionnaires, direct assessment provides a more valid estimate of the constructs. Role-plays (i.e., simulates situational settings) therefore appear to be an appropriate indicator of social skills in daily life. METHODS: This co-registered study involved 53 individuals with 22q11DS, 34 individuals with ASD, and 64 typically developing (TD) peers aged 12-30 years. All participants were assessed with role-plays as well as parent-reported questionnaires and clinical interviews focusing on social skills, functioning and anxiety. RESULTS: Both clinical groups showed impaired social skills compared to TD, but distinct social profiles emerged between the groups. Individuals with 22q11DS displayed higher social appropriateness and clarity of speech but weaker general argumentation and negotiation skills, with the opposite pattern observed in participants with ASD. No association was found between social skills measured by direct observation and caregiver reports. Social anxiety, although higher in clinical groups than in TD, was not associated with role-plays. CONCLUSIONS: This study highlights the need to train social skills through tailored interventions to target the specific difficulties of each clinical population. It also highlights the importance of combining measures as they do not necessarily provide the same outcome. En ligne : https://dx.doi.org/10.1186/s11689-024-09527-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575

Differential cognitive and behavioral development from 6 to 24 months in autism and fragile X syndrome / Lindsay J. MULLIN in Journal of Neurodevelopmental Disorders, 16 (2024)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 16 (2024) Titre : Differential cognitive and behavioral development from 6 to 24 months in autism and fragile X syndrome Type de document : texte imprimé Auteurs : Lindsay J. MULLIN, Auteur ; Joshua RUTSOHN, Auteur ; Julia L. GROSS, Auteur ; Kelly E. CARAVELLA, Auteur ; Rebecca L. GRZADZINSKI, Auteur ; Leigh Anne WEISENFELD, Auteur ; Lisa FLAKE, Auteur ; Kelly N. BOTTERON, Auteur ; Stephen R. DAGER, Auteur ; Annette M. ESTES, Auteur ; Juhi PANDEY, Auteur ; Robert T. SCHULTZ, Auteur ; Tanya ST JOHN, Auteur ; Jason J. WOLFF, Auteur ; Mark D. SHEN, Auteur ; Joseph PIVEN, Auteur ; Heather C. HAZLETT, Auteur ; Jessica B. GIRAULT, Auteur Langues : Anglais (eng) Mots-clés : Infant  Humans  Fragile X Syndrome/complications/psychology  Autism Spectrum Disorder/complications/psychology  Autistic Disorder  Language  Cognition  Autism  Behavioral  Cognitive  Development  Fragile X syndrome  Infancy Index. décimale : PER Périodiques Résumé : BACKGROUND: Specifying early developmental differences among neurodevelopmental disorders with distinct etiologies is critical to improving early identification and tailored intervention during the first years of life. Recent studies have uncovered important differences between infants with fragile X syndrome (FXS) and infants with familial history of autism spectrum disorder who go on to develop autism themselves (FH-ASD), including differences in brain development and behavior. Thus far, there have been no studies longitudinally investigating differential developmental skill profiles in FXS and FH-ASD infants. METHODS: The current study contrasted longitudinal trajectories of verbal (expressive and receptive language) and nonverbal (gross and fine motor, visual reception) skills in FXS and FH-ASD infants, compared to FH infants who did not develop ASD (FH-nonASD) and typically developing controls. RESULTS: Infants with FXS showed delays on a nonverbal composite compared to FH-ASD (as well as FH-nonASD and control) infants as early as 6 months of age. By 12 months an ordinal pattern of scores was established between groups on all domains tested, such that controls > FH-nonASD > FH-ASD > FXS. This pattern persisted through 24 months. Cognitive level differentially influenced developmental trajectories for FXS and FH-ASD. CONCLUSIONS: Our results demonstrate detectable group differences by 6 months between FXS and FH-ASD as well as differential trajectories on each domain throughout infancy. This work further highlights an earlier onset of global cognitive delays in FXS and, conversely, a protracted period of more slowly emerging delays in FH-ASD. Divergent neural and cognitive development in infancy between FXS and FH-ASD contributes to our understanding of important distinctions in the development and behavioral phenotype of these two groups. En ligne : https://dx.doi.org/10.1186/s11689-024-09519-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575 [article] Differential cognitive and behavioral development from 6 to 24 months in autism and fragile X syndrome [texte imprimé] / Lindsay J. MULLIN, Auteur ; Joshua RUTSOHN, Auteur ; Julia L. GROSS, Auteur ; Kelly E. CARAVELLA, Auteur ; Rebecca L. GRZADZINSKI, Auteur ; Leigh Anne WEISENFELD, Auteur ; Lisa FLAKE, Auteur ; Kelly N. BOTTERON, Auteur ; Stephen R. DAGER, Auteur ; Annette M. ESTES, Auteur ; Juhi PANDEY, Auteur ; Robert T. SCHULTZ, Auteur ; Tanya ST JOHN, Auteur ; Jason J. WOLFF, Auteur ; Mark D. SHEN, Auteur ; Joseph PIVEN, Auteur ; Heather C. HAZLETT, Auteur ; Jessica B. GIRAULT, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 16 (2024) Mots-clés : Infant  Humans  Fragile X Syndrome/complications/psychology  Autism Spectrum Disorder/complications/psychology  Autistic Disorder  Language  Cognition  Autism  Behavioral  Cognitive  Development  Fragile X syndrome  Infancy Index. décimale : PER Périodiques Résumé : BACKGROUND: Specifying early developmental differences among neurodevelopmental disorders with distinct etiologies is critical to improving early identification and tailored intervention during the first years of life. Recent studies have uncovered important differences between infants with fragile X syndrome (FXS) and infants with familial history of autism spectrum disorder who go on to develop autism themselves (FH-ASD), including differences in brain development and behavior. Thus far, there have been no studies longitudinally investigating differential developmental skill profiles in FXS and FH-ASD infants. METHODS: The current study contrasted longitudinal trajectories of verbal (expressive and receptive language) and nonverbal (gross and fine motor, visual reception) skills in FXS and FH-ASD infants, compared to FH infants who did not develop ASD (FH-nonASD) and typically developing controls. RESULTS: Infants with FXS showed delays on a nonverbal composite compared to FH-ASD (as well as FH-nonASD and control) infants as early as 6 months of age. By 12 months an ordinal pattern of scores was established between groups on all domains tested, such that controls > FH-nonASD > FH-ASD > FXS. This pattern persisted through 24 months. Cognitive level differentially influenced developmental trajectories for FXS and FH-ASD. CONCLUSIONS: Our results demonstrate detectable group differences by 6 months between FXS and FH-ASD as well as differential trajectories on each domain throughout infancy. This work further highlights an earlier onset of global cognitive delays in FXS and, conversely, a protracted period of more slowly emerging delays in FH-ASD. Divergent neural and cognitive development in infancy between FXS and FH-ASD contributes to our understanding of important distinctions in the development and behavioral phenotype of these two groups. En ligne : https://dx.doi.org/10.1186/s11689-024-09519-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575

Genetic determinants of global developmental delay and intellectual disability in Ukrainian children / Khrystyna SHCHUBELKA in Journal of Neurodevelopmental Disorders, 16 (2024)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 16 (2024) Titre : Genetic determinants of global developmental delay and intellectual disability in Ukrainian children Type de document : texte imprimé Auteurs : Khrystyna SHCHUBELKA, Auteur ; Liudmyla TUROVA, Auteur ; Walter WOLFSBERGER, Auteur ; Kelly KALANQUIN, Auteur ; Krista WILLISTON, Auteur ; Oleksii KURUTSA, Auteur ; Anastasiia MAKOVETSKA, Auteur ; Yaroslava HASYNETS, Auteur ; Violeta MIRUTENKO, Auteur ; Mykhailo VAKERYCH, Auteur ; Taras K. OLEKSYK, Auteur Langues : Anglais (eng) Mots-clés : Child  Humans  Intellectual Disability/epidemiology/genetics/diagnosis  Genetic Testing/methods  Autism Spectrum Disorder/epidemiology/genetics/complications  Retrospective Studies  Epilepsy/complications  Potassium Channels, Sodium-Activated/genetics  Nerve Tissue Proteins/genetics  Gene panel testing  Global developmental delay  Intellectual disability  Next generation sequencing  Ukraine.  Whole exome sequencing Index. décimale : PER Périodiques Résumé : BACKGROUND: Global developmental delay or intellectual disability usually accompanies various genetic disorders as a part of the syndrome, which may include seizures, autism spectrum disorder and multiple congenital abnormalities. Next-generation sequencing (NGS) techniques have improved the identification of pathogenic variants and genes related to developmental delay. This study aimed to evaluate the yield of whole exome sequencing (WES) and neurodevelopmental disorder gene panel sequencing in a pediatric cohort from Ukraine. Additionally, the study computationally predicted the effect of variants of uncertain significance (VUS) based on recently published genetic data from the country's healthy population. METHODS: The study retrospectively analyzed WES or gene panel sequencing findings of 417 children with global developmental delay, intellectual disability, and/or other symptoms. Variants of uncertain significance were annotated using CADD-Phred and SIFT prediction scores, and their frequency in the healthy population of Ukraine was estimated. RESULTS: A definitive molecular diagnosis was established in 66 (15.8%) of the individuals. WES diagnosed 22 out of 37 cases (59.4%), while the neurodevelopmental gene panel identified 44 definitive diagnoses among the 380 tested patients (12.1%). Non-diagnostic findings (VUS and carrier) were reported in 350 (83.2%) individuals. The most frequently diagnosed conditions were developmental and epileptic encephalopathies associated with severe epilepsy and GDD/ID (associated genes ARX, CDKL5, STXBP1, KCNQ2, SCN2A, KCNT1, KCNA2). Additionally, we annotated 221 VUS classified as potentially damaging, AD or X-linked, potentially increasing the diagnostic yield by 30%, but 18 of these variants were present in the healthy population of Ukraine. CONCLUSIONS: This is the first comprehensive study on genetic causes of GDD/ID conducted in Ukraine. This study provides the first comprehensive investigation of the genetic causes of GDD/ID in Ukraine. It presents a substantial dataset of diagnosed genetic conditions associated with GDD/ID. The results support the utilization of NGS gene panels and WES as first-line diagnostic tools for GDD/ID cases, particularly in resource-limited settings. A comprehensive approach to resolving VUS, including computational effect prediction, population frequency analysis, and phenotype assessment, can aid in further reclassification of deleterious VUS and guide further testing in families. En ligne : https://dx.doi.org/10.1186/s11689-024-09528-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575 [article] Genetic determinants of global developmental delay and intellectual disability in Ukrainian children [texte imprimé] / Khrystyna SHCHUBELKA, Auteur ; Liudmyla TUROVA, Auteur ; Walter WOLFSBERGER, Auteur ; Kelly KALANQUIN, Auteur ; Krista WILLISTON, Auteur ; Oleksii KURUTSA, Auteur ; Anastasiia MAKOVETSKA, Auteur ; Yaroslava HASYNETS, Auteur ; Violeta MIRUTENKO, Auteur ; Mykhailo VAKERYCH, Auteur ; Taras K. OLEKSYK, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 16 (2024) Mots-clés : Child  Humans  Intellectual Disability/epidemiology/genetics/diagnosis  Genetic Testing/methods  Autism Spectrum Disorder/epidemiology/genetics/complications  Retrospective Studies  Epilepsy/complications  Potassium Channels, Sodium-Activated/genetics  Nerve Tissue Proteins/genetics  Gene panel testing  Global developmental delay  Intellectual disability  Next generation sequencing  Ukraine.  Whole exome sequencing Index. décimale : PER Périodiques Résumé : BACKGROUND: Global developmental delay or intellectual disability usually accompanies various genetic disorders as a part of the syndrome, which may include seizures, autism spectrum disorder and multiple congenital abnormalities. Next-generation sequencing (NGS) techniques have improved the identification of pathogenic variants and genes related to developmental delay. This study aimed to evaluate the yield of whole exome sequencing (WES) and neurodevelopmental disorder gene panel sequencing in a pediatric cohort from Ukraine. Additionally, the study computationally predicted the effect of variants of uncertain significance (VUS) based on recently published genetic data from the country's healthy population. METHODS: The study retrospectively analyzed WES or gene panel sequencing findings of 417 children with global developmental delay, intellectual disability, and/or other symptoms. Variants of uncertain significance were annotated using CADD-Phred and SIFT prediction scores, and their frequency in the healthy population of Ukraine was estimated. RESULTS: A definitive molecular diagnosis was established in 66 (15.8%) of the individuals. WES diagnosed 22 out of 37 cases (59.4%), while the neurodevelopmental gene panel identified 44 definitive diagnoses among the 380 tested patients (12.1%). Non-diagnostic findings (VUS and carrier) were reported in 350 (83.2%) individuals. The most frequently diagnosed conditions were developmental and epileptic encephalopathies associated with severe epilepsy and GDD/ID (associated genes ARX, CDKL5, STXBP1, KCNQ2, SCN2A, KCNT1, KCNA2). Additionally, we annotated 221 VUS classified as potentially damaging, AD or X-linked, potentially increasing the diagnostic yield by 30%, but 18 of these variants were present in the healthy population of Ukraine. CONCLUSIONS: This is the first comprehensive study on genetic causes of GDD/ID conducted in Ukraine. This study provides the first comprehensive investigation of the genetic causes of GDD/ID in Ukraine. It presents a substantial dataset of diagnosed genetic conditions associated with GDD/ID. The results support the utilization of NGS gene panels and WES as first-line diagnostic tools for GDD/ID cases, particularly in resource-limited settings. A comprehensive approach to resolving VUS, including computational effect prediction, population frequency analysis, and phenotype assessment, can aid in further reclassification of deleterious VUS and guide further testing in families. En ligne : https://dx.doi.org/10.1186/s11689-024-09528-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575

Neurofeedback training of executive function in autism spectrum disorder: distinct effects on brain activity levels and compensatory connectivity changes / Daniela Jardim PEREIRA in Journal of Neurodevelopmental Disorders, 16 (2024)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 16 (2024) Titre : Neurofeedback training of executive function in autism spectrum disorder: distinct effects on brain activity levels and compensatory connectivity changes Type de document : texte imprimé Auteurs : Daniela Jardim PEREIRA, Auteur ; Sofia MORAIS, Auteur ; Alexandre SAYAL, Auteur ; João PEREIRA, Auteur ; Sofia MENESES, Auteur ; Graça AREIAS, Auteur ; Bruno DIREITO, Auteur ; António MACEDO, Auteur ; Miguel CASTELO-BRANCO, Auteur Langues : Anglais (eng) Mots-clés : Humans  Executive Function  Neurofeedback  Autism Spectrum Disorder/therapy  Brain/diagnostic imaging  Brain Mapping  Autism spectrum disorders  Dorsolateral prefrontal cortex  Neurofeedback  Rt-fMRI Index. décimale : PER Périodiques Résumé : BACKGROUND: Deficits in executive function (EF) are consistently reported in autism spectrum disorders (ASD). Tailored cognitive training tools, such as neurofeedback, focused on executive function enhancement might have a significant impact on the daily life functioning of individuals with ASD. We report the first real-time fMRI neurofeedback (rt-fMRI NF) study targeting the left dorsolateral prefrontal cortex (DLPFC) in ASD. METHODS: Thirteen individuals with autism without intellectual disability and seventeen neurotypical individuals completed a rt-fMRI working memory NF paradigm, consisting of subvocal backward recitation of self-generated numeric sequences. We performed a region-of-interest analysis of the DLPFC, whole-brain comparisons between groups and, DLPFC-based functional connectivity. RESULTS: The ASD and control groups were able to modulate DLPFC activity in 84% and 98% of the runs. Activity in the target region was persistently lower in the ASD group, particularly in runs without neurofeedback. Moreover, the ASD group showed lower activity in premotor/motor areas during pre-neurofeedback run than controls, but not in transfer runs, where it was seemingly balanced by higher connectivity between the DLPFC and the motor cortex. Group comparison in the transfer run also showed significant differences in DLPFC-based connectivity between groups, including higher connectivity with areas integrated into the multidemand network (MDN) and the visual cortex. CONCLUSIONS: Neurofeedback seems to induce a higher between-group similarity of the whole-brain activity levels (including the target ROI) which might be promoted by changes in connectivity between the DLPFC and both high and low-level areas, including motor, visual and MDN regions. En ligne : https://dx.doi.org/10.1186/s11689-024-09531-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575 [article] Neurofeedback training of executive function in autism spectrum disorder: distinct effects on brain activity levels and compensatory connectivity changes [texte imprimé] / Daniela Jardim PEREIRA, Auteur ; Sofia MORAIS, Auteur ; Alexandre SAYAL, Auteur ; João PEREIRA, Auteur ; Sofia MENESES, Auteur ; Graça AREIAS, Auteur ; Bruno DIREITO, Auteur ; António MACEDO, Auteur ; Miguel CASTELO-BRANCO, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 16 (2024) Mots-clés : Humans  Executive Function  Neurofeedback  Autism Spectrum Disorder/therapy  Brain/diagnostic imaging  Brain Mapping  Autism spectrum disorders  Dorsolateral prefrontal cortex  Neurofeedback  Rt-fMRI Index. décimale : PER Périodiques Résumé : BACKGROUND: Deficits in executive function (EF) are consistently reported in autism spectrum disorders (ASD). Tailored cognitive training tools, such as neurofeedback, focused on executive function enhancement might have a significant impact on the daily life functioning of individuals with ASD. We report the first real-time fMRI neurofeedback (rt-fMRI NF) study targeting the left dorsolateral prefrontal cortex (DLPFC) in ASD. METHODS: Thirteen individuals with autism without intellectual disability and seventeen neurotypical individuals completed a rt-fMRI working memory NF paradigm, consisting of subvocal backward recitation of self-generated numeric sequences. We performed a region-of-interest analysis of the DLPFC, whole-brain comparisons between groups and, DLPFC-based functional connectivity. RESULTS: The ASD and control groups were able to modulate DLPFC activity in 84% and 98% of the runs. Activity in the target region was persistently lower in the ASD group, particularly in runs without neurofeedback. Moreover, the ASD group showed lower activity in premotor/motor areas during pre-neurofeedback run than controls, but not in transfer runs, where it was seemingly balanced by higher connectivity between the DLPFC and the motor cortex. Group comparison in the transfer run also showed significant differences in DLPFC-based connectivity between groups, including higher connectivity with areas integrated into the multidemand network (MDN) and the visual cortex. CONCLUSIONS: Neurofeedback seems to induce a higher between-group similarity of the whole-brain activity levels (including the target ROI) which might be promoted by changes in connectivity between the DLPFC and both high and low-level areas, including motor, visual and MDN regions. En ligne : https://dx.doi.org/10.1186/s11689-024-09531-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575

Shared and divergent mental health characteristics of ADNP-, CHD8- and DYRK1A-related neurodevelopmental conditions / Emily NEUHAUS in Journal of Neurodevelopmental Disorders, 16 (2024)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 16 (2024) Titre : Shared and divergent mental health characteristics of ADNP-, CHD8- and DYRK1A-related neurodevelopmental conditions Type de document : texte imprimé Auteurs : Emily NEUHAUS, Auteur ; Hannah REA, Auteur ; Elizabeth JONES, Auteur ; Hannah BENAVIDEZ, Auteur ; Conor MILES, Auteur ; Alana WHITING, Auteur ; Margaret JOHANSSON, Auteur ; Curtis EAYRS, Auteur ; Evangeline C. KURTZ-NELSON, Auteur ; Rachel EARL, Auteur ; Raphael A. BERNIER, Auteur ; Evan E. EICHLER, Auteur Langues : Anglais (eng) Mots-clés : Adolescent  Child  Female  Humans  Male  Autism Spectrum Disorder/complications  DNA-Binding Proteins/genetics  Homeodomain Proteins/genetics  Intellectual Disability/genetics/complications  Mental Health  Nerve Tissue Proteins/genetics  Neurodevelopmental Disorders/genetics/complications  Quality of Life  Transcription Factors/genetics  Adnp  Chd8  Dyrk1a  Asd  Autism  Neurodevelopmental conditions  Phenotyping  genetics  opinions or views of the National Institutes of Health (NIH). E.E.E. is a  scientific advisory board (SAB) member of Variant Bio, Inc. The remaining authors  declare no competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Neurodevelopmental conditions such as intellectual disability (ID) and autism spectrum disorder (ASD) can stem from a broad array of inherited and de novo genetic differences, with marked physiological and behavioral impacts. We currently know little about the psychiatric phenotypes of rare genetic variants associated with ASD, despite heightened risk of psychiatric concerns in ASD more broadly. Understanding behavioral features of these variants can identify shared versus specific phenotypes across gene groups, facilitate mechanistic models, and provide prognostic insights to inform clinical practice. In this paper, we evaluate behavioral features within three gene groups associated with ID and ASD - ADNP, CHD8, and DYRK1A - with two aims: (1) characterize phenotypes across behavioral domains of anxiety, depression, ADHD, and challenging behavior; and (2) understand whether age and early developmental milestones are associated with later mental health outcomes. METHODS: Phenotypic data were obtained for youth with disruptive variants in ADNP, CHD8, or DYRK1A (N = 65, mean age = 8.7 years, 40% female) within a long-running, genetics-first study. Standardized caregiver-report measures of mental health features (anxiety, depression, attention-deficit/hyperactivity, oppositional behavior) and developmental history were extracted and analyzed for effects of gene group, age, and early developmental milestones on mental health features. RESULTS: Patterns of mental health features varied by group, with anxiety most prominent for CHD8, oppositional features overrepresented among ADNP, and attentional and depressive features most prominent for DYRK1A. For the full sample, age was positively associated with anxiety features, such that elevations in anxiety relative to same-age and same-sex peers may worsen with increasing age. Predictive utility of early developmental milestones was limited, with evidence of early language delays predicting greater difficulties across behavioral domains only for the CHD8 group. CONCLUSIONS: Despite shared associations with autism and intellectual disability, disruptive variants in ADNP, CHD8, and DYRK1A may yield variable psychiatric phenotypes among children and adolescents. With replication in larger samples over time, efforts such as these may contribute to improved clinical care for affected children and adolescents, allow for earlier identification of emerging mental health difficulties, and promote early intervention to alleviate concerns and improve quality of life. En ligne : https://dx.doi.org/10.1186/s11689-024-09532-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575 [article] Shared and divergent mental health characteristics of ADNP-, CHD8- and DYRK1A-related neurodevelopmental conditions [texte imprimé] / Emily NEUHAUS, Auteur ; Hannah REA, Auteur ; Elizabeth JONES, Auteur ; Hannah BENAVIDEZ, Auteur ; Conor MILES, Auteur ; Alana WHITING, Auteur ; Margaret JOHANSSON, Auteur ; Curtis EAYRS, Auteur ; Evangeline C. KURTZ-NELSON, Auteur ; Rachel EARL, Auteur ; Raphael A. BERNIER, Auteur ; Evan E. EICHLER, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 16 (2024) Mots-clés : Adolescent  Child  Female  Humans  Male  Autism Spectrum Disorder/complications  DNA-Binding Proteins/genetics  Homeodomain Proteins/genetics  Intellectual Disability/genetics/complications  Mental Health  Nerve Tissue Proteins/genetics  Neurodevelopmental Disorders/genetics/complications  Quality of Life  Transcription Factors/genetics  Adnp  Chd8  Dyrk1a  Asd  Autism  Neurodevelopmental conditions  Phenotyping  genetics  opinions or views of the National Institutes of Health (NIH). E.E.E. is a  scientific advisory board (SAB) member of Variant Bio, Inc. The remaining authors  declare no competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Neurodevelopmental conditions such as intellectual disability (ID) and autism spectrum disorder (ASD) can stem from a broad array of inherited and de novo genetic differences, with marked physiological and behavioral impacts. We currently know little about the psychiatric phenotypes of rare genetic variants associated with ASD, despite heightened risk of psychiatric concerns in ASD more broadly. Understanding behavioral features of these variants can identify shared versus specific phenotypes across gene groups, facilitate mechanistic models, and provide prognostic insights to inform clinical practice. In this paper, we evaluate behavioral features within three gene groups associated with ID and ASD - ADNP, CHD8, and DYRK1A - with two aims: (1) characterize phenotypes across behavioral domains of anxiety, depression, ADHD, and challenging behavior; and (2) understand whether age and early developmental milestones are associated with later mental health outcomes. METHODS: Phenotypic data were obtained for youth with disruptive variants in ADNP, CHD8, or DYRK1A (N = 65, mean age = 8.7 years, 40% female) within a long-running, genetics-first study. Standardized caregiver-report measures of mental health features (anxiety, depression, attention-deficit/hyperactivity, oppositional behavior) and developmental history were extracted and analyzed for effects of gene group, age, and early developmental milestones on mental health features. RESULTS: Patterns of mental health features varied by group, with anxiety most prominent for CHD8, oppositional features overrepresented among ADNP, and attentional and depressive features most prominent for DYRK1A. For the full sample, age was positively associated with anxiety features, such that elevations in anxiety relative to same-age and same-sex peers may worsen with increasing age. Predictive utility of early developmental milestones was limited, with evidence of early language delays predicting greater difficulties across behavioral domains only for the CHD8 group. CONCLUSIONS: Despite shared associations with autism and intellectual disability, disruptive variants in ADNP, CHD8, and DYRK1A may yield variable psychiatric phenotypes among children and adolescents. With replication in larger samples over time, efforts such as these may contribute to improved clinical care for affected children and adolescents, allow for earlier identification of emerging mental health difficulties, and promote early intervention to alleviate concerns and improve quality of life. En ligne : https://dx.doi.org/10.1186/s11689-024-09532-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575

The Brain Gene Registry: a data snapshot / Dustin BALDRIDGE in Journal of Neurodevelopmental Disorders, 16 (2024)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 16 (2024) Titre : The Brain Gene Registry: a data snapshot Type de document : texte imprimé Auteurs : Dustin BALDRIDGE, Auteur ; Levi KASTER, Auteur ; Catherine SANCIMINO, Auteur ; Siddharth SRIVASTAVA, Auteur ; Sophie MOLHOLM, Auteur ; Aditi GUPTA, Auteur ; Inez OH, Auteur ; Virginia LANZOTTI, Auteur ; Daleep GREWAL, Auteur ; Erin Rooney RIGGS, Auteur ; Juliann M. SAVATT, Auteur ; Rachel HAUCK, Auteur ; Abigail SVEDEN, Auteur ; BRAIN GENE REGISTRY CONSORTIUM, Auteur ; John N. CONSTANTINO, Auteur ; Joseph PIVEN, Auteur ; Christina A. GURNETT, Auteur ; Maya CHOPRA, Auteur ; Heather HAZLETT, Auteur ; Philip R.O. PAYNE, Auteur Langues : Anglais (eng) Mots-clés : Humans  Male  Female  Autism Spectrum Disorder/genetics  Autistic Disorder  Neurodevelopmental Disorders  Intellectual Disability  Brain  Registries  Methyltransferases  Brain gene registry  Electronic health records  Neurodevelopmental disorders Index. décimale : PER Périodiques Résumé : Monogenic disorders account for a large proportion of population-attributable risk for neurodevelopmental disabilities. However, the data necessary to infer a causal relationship between a given genetic variant and a particular neurodevelopmental disorder is often lacking. Recognizing this scientific roadblock, 13 Intellectual and Developmental Disabilities Research Centers (IDDRCs) formed a consortium to create the Brain Gene Registry (BGR), a repository pairing clinical genetic data with phenotypic data from participants with variants in putative brain genes. Phenotypic profiles are assembled from the electronic health record (EHR) and a battery of remotely administered standardized assessments collectively referred to as the Rapid Neurobehavioral Assessment Protocol (RNAP), which include cognitive, neurologic, and neuropsychiatric assessments, as well as assessments for attention deficit hyperactivity disorder (ADHD) and autism spectrum disorder (ASD). Co-enrollment of BGR participants in the Clinical Genome Resource's (ClinGen's) GenomeConnect enables display of variant information in ClinVar. The BGR currently contains data on 479 participants who are 55% male, 6% Asian, 6% Black or African American, 76% white, and 12% Hispanic/Latine. Over 200 genes are represented in the BGR, with 12 or more participants harboring variants in each of these genes: CACNA1A, DNMT3A, SLC6A1, SETD5, and MYT1L. More than 30% of variants are de novo and 43% are classified as variants of uncertain significance (VUSs). Mean standard scores on cognitive or developmental screens are below average for the BGR cohort. EHR data reveal developmental delay as the earliest and most common diagnosis in this sample, followed by speech and language disorders, ASD, and ADHD. BGR data has already been used to accelerate gene-disease validity curation of 36 genes evaluated by ClinGen's BGR Intellectual Disability (ID)-Autism (ASD) Gene Curation Expert Panel. In summary, the BGR is a resource for use by stakeholders interested in advancing translational research for brain genes and continues to recruit participants with clinically reported variants to establish a rich and well-characterized national resource to promote research on neurodevelopmental disorders. En ligne : https://dx.doi.org/10.1186/s11689-024-09530-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575 [article] The Brain Gene Registry: a data snapshot [texte imprimé] / Dustin BALDRIDGE, Auteur ; Levi KASTER, Auteur ; Catherine SANCIMINO, Auteur ; Siddharth SRIVASTAVA, Auteur ; Sophie MOLHOLM, Auteur ; Aditi GUPTA, Auteur ; Inez OH, Auteur ; Virginia LANZOTTI, Auteur ; Daleep GREWAL, Auteur ; Erin Rooney RIGGS, Auteur ; Juliann M. SAVATT, Auteur ; Rachel HAUCK, Auteur ; Abigail SVEDEN, Auteur ; BRAIN GENE REGISTRY CONSORTIUM, Auteur ; John N. CONSTANTINO, Auteur ; Joseph PIVEN, Auteur ; Christina A. GURNETT, Auteur ; Maya CHOPRA, Auteur ; Heather HAZLETT, Auteur ; Philip R.O. PAYNE, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 16 (2024) Mots-clés : Humans  Male  Female  Autism Spectrum Disorder/genetics  Autistic Disorder  Neurodevelopmental Disorders  Intellectual Disability  Brain  Registries  Methyltransferases  Brain gene registry  Electronic health records  Neurodevelopmental disorders Index. décimale : PER Périodiques Résumé : Monogenic disorders account for a large proportion of population-attributable risk for neurodevelopmental disabilities. However, the data necessary to infer a causal relationship between a given genetic variant and a particular neurodevelopmental disorder is often lacking. Recognizing this scientific roadblock, 13 Intellectual and Developmental Disabilities Research Centers (IDDRCs) formed a consortium to create the Brain Gene Registry (BGR), a repository pairing clinical genetic data with phenotypic data from participants with variants in putative brain genes. Phenotypic profiles are assembled from the electronic health record (EHR) and a battery of remotely administered standardized assessments collectively referred to as the Rapid Neurobehavioral Assessment Protocol (RNAP), which include cognitive, neurologic, and neuropsychiatric assessments, as well as assessments for attention deficit hyperactivity disorder (ADHD) and autism spectrum disorder (ASD). Co-enrollment of BGR participants in the Clinical Genome Resource's (ClinGen's) GenomeConnect enables display of variant information in ClinVar. The BGR currently contains data on 479 participants who are 55% male, 6% Asian, 6% Black or African American, 76% white, and 12% Hispanic/Latine. Over 200 genes are represented in the BGR, with 12 or more participants harboring variants in each of these genes: CACNA1A, DNMT3A, SLC6A1, SETD5, and MYT1L. More than 30% of variants are de novo and 43% are classified as variants of uncertain significance (VUSs). Mean standard scores on cognitive or developmental screens are below average for the BGR cohort. EHR data reveal developmental delay as the earliest and most common diagnosis in this sample, followed by speech and language disorders, ASD, and ADHD. BGR data has already been used to accelerate gene-disease validity curation of 36 genes evaluated by ClinGen's BGR Intellectual Disability (ID)-Autism (ASD) Gene Curation Expert Panel. In summary, the BGR is a resource for use by stakeholders interested in advancing translational research for brain genes and continues to recruit participants with clinically reported variants to establish a rich and well-characterized national resource to promote research on neurodevelopmental disorders. En ligne : https://dx.doi.org/10.1186/s11689-024-09530-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575

Characterization of early markers of disease in the mouse model of mucopolysaccharidosis IIIB / Katherine B. MCCULLOUGH in Journal of Neurodevelopmental Disorders, 16 (2024)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 16 (2024) Titre : Characterization of early markers of disease in the mouse model of mucopolysaccharidosis IIIB Type de document : texte imprimé Auteurs : Katherine B. MCCULLOUGH, Auteur ; Amanda TITUS, Auteur ; Kate REARDON, Auteur ; Sara CONYERS, Auteur ; Joseph D. DOUGHERTY, Auteur ; Xia GE, Auteur ; Joel R. GARBOW, Auteur ; Patricia DICKSON, Auteur ; Carla M. YUEDE, Auteur ; Susan E. MALONEY, Auteur Langues : Anglais (eng) Mots-clés : Humans  Animals  Adult  Child  Mucopolysaccharidosis III/genetics/pathology  Diffusion Tensor Imaging  Brain  Disease Models, Animal  Treatment Outcome  Aggression  Dominance  Fear conditioning  Gait  Lysosomal storage disorder  Mri/dti  Mucopolysaccharidosis IIIB  Sanfilippo B  Startle response  Ultrasonic vocalization Index. décimale : PER Périodiques Résumé : BACKGROUND: Mucopolysaccharidosis (MPS) IIIB, also known as Sanfilippo Syndrome B, is a devastating childhood disease. Unfortunately, there are currently no available treatments for MPS IIIB patients. Yet, animal models of lysosomal storage diseases have been valuable tools in identifying promising avenues of treatment. Enzyme replacement therapy, gene therapy, and bone marrow transplant have all shown efficacy in the MPS IIIB model systems. A ubiquitous finding across rodent models of lysosomal storage diseases is that the best treatment outcomes resulted from intervention prior to symptom onset. Therefore, the aim of the current study was to identify early markers of disease in the MPS IIIB mouse model as well as examine clinically-relevant behavioral domains not yet explored in this model. METHODS: Using the MPS IIIB mouse model, we explored early developmental trajectories of communication and gait, and later social behavior, fear-related startle and conditioning, and visual capabilities. In addition, we examined brain structure and function via magnetic resonance imaging and diffusion tensor imaging. RESULTS: We observed reduced maternal isolation-induced ultrasonic vocalizations in MPS IIIB mice relative to controls, as well as disruption in a number of the spectrotemporal features. MPS IIIB also exhibited disrupted thermoregulation during the first two postnatal weeks without any differences in body weight. The developmental trajectories of gait were largely normal. In early adulthood, we observed intact visual acuity and sociability yet a more submissive phenotype, increased aggressive behavior, and decreased social sniffing relative to controls. MPS IIIB mice showed greater inhibition of startle in response to a pretone with a decrease in overall startle response and reduced cued fear memory. MPS IIIB also weighed significantly more than controls throughout adulthood and showed larger whole brain volumes and normalized regional volumes with intact tissue integrity as measured with magnetic resonance and diffusion tensor imaging, respectively. CONCLUSIONS: Together, these results indicate disease markers are present as early as the first two weeks postnatal in this model. Further, this model recapitulates social, sensory and fear-related clinical features. Our study using a mouse model of MPS IIIB provides essential baseline information that will be useful in future evaluations of potential treatments. En ligne : https://dx.doi.org/10.1186/s11689-024-09534-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575 [article] Characterization of early markers of disease in the mouse model of mucopolysaccharidosis IIIB [texte imprimé] / Katherine B. MCCULLOUGH, Auteur ; Amanda TITUS, Auteur ; Kate REARDON, Auteur ; Sara CONYERS, Auteur ; Joseph D. DOUGHERTY, Auteur ; Xia GE, Auteur ; Joel R. GARBOW, Auteur ; Patricia DICKSON, Auteur ; Carla M. YUEDE, Auteur ; Susan E. MALONEY, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 16 (2024) Mots-clés : Humans  Animals  Adult  Child  Mucopolysaccharidosis III/genetics/pathology  Diffusion Tensor Imaging  Brain  Disease Models, Animal  Treatment Outcome  Aggression  Dominance  Fear conditioning  Gait  Lysosomal storage disorder  Mri/dti  Mucopolysaccharidosis IIIB  Sanfilippo B  Startle response  Ultrasonic vocalization Index. décimale : PER Périodiques Résumé : BACKGROUND: Mucopolysaccharidosis (MPS) IIIB, also known as Sanfilippo Syndrome B, is a devastating childhood disease. Unfortunately, there are currently no available treatments for MPS IIIB patients. Yet, animal models of lysosomal storage diseases have been valuable tools in identifying promising avenues of treatment. Enzyme replacement therapy, gene therapy, and bone marrow transplant have all shown efficacy in the MPS IIIB model systems. A ubiquitous finding across rodent models of lysosomal storage diseases is that the best treatment outcomes resulted from intervention prior to symptom onset. Therefore, the aim of the current study was to identify early markers of disease in the MPS IIIB mouse model as well as examine clinically-relevant behavioral domains not yet explored in this model. METHODS: Using the MPS IIIB mouse model, we explored early developmental trajectories of communication and gait, and later social behavior, fear-related startle and conditioning, and visual capabilities. In addition, we examined brain structure and function via magnetic resonance imaging and diffusion tensor imaging. RESULTS: We observed reduced maternal isolation-induced ultrasonic vocalizations in MPS IIIB mice relative to controls, as well as disruption in a number of the spectrotemporal features. MPS IIIB also exhibited disrupted thermoregulation during the first two postnatal weeks without any differences in body weight. The developmental trajectories of gait were largely normal. In early adulthood, we observed intact visual acuity and sociability yet a more submissive phenotype, increased aggressive behavior, and decreased social sniffing relative to controls. MPS IIIB mice showed greater inhibition of startle in response to a pretone with a decrease in overall startle response and reduced cued fear memory. MPS IIIB also weighed significantly more than controls throughout adulthood and showed larger whole brain volumes and normalized regional volumes with intact tissue integrity as measured with magnetic resonance and diffusion tensor imaging, respectively. CONCLUSIONS: Together, these results indicate disease markers are present as early as the first two weeks postnatal in this model. Further, this model recapitulates social, sensory and fear-related clinical features. Our study using a mouse model of MPS IIIB provides essential baseline information that will be useful in future evaluations of potential treatments. En ligne : https://dx.doi.org/10.1186/s11689-024-09534-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575

Exploring an objective measure of overactivity in children with rare genetic syndromes / Rory O'SULLIVAN in Journal of Neurodevelopmental Disorders, 16 (2024)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 16 (2024) Titre : Exploring an objective measure of overactivity in children with rare genetic syndromes Type de document : texte imprimé Auteurs : Rory O'SULLIVAN, Auteur ; Stacey BISSELL, Auteur ; Georgie AGAR, Auteur ; Jayne SPILLER, Auteur ; Andrew SURTEES, Auteur ; Mary HEALD, Auteur ; Emma CLARKSON, Auteur ; Aamina KHAN, Auteur ; Christopher OLIVER, Auteur ; Andrew P. BAGSHAW, Auteur ; Caroline RICHARDS, Auteur Langues : Anglais (eng) Mots-clés : Child  Humans  Smith-Magenis Syndrome/complications  Angelman Syndrome/complications/diagnosis  Tuberous Sclerosis/complications  Intellectual Disability/complications  Actigraphy  Angelman syndrome  Children  Hyperactivity  Objective  Overactivity  Questionnaire  Rare genetic syndromes  Smith-Magenis syndrome  Tuberous sclerosis complex Index. décimale : PER Périodiques Résumé : BACKGROUND: Overactivity is prevalent in several rare genetic neurodevelopmental syndromes, including Smith-Magenis syndrome, Angelman syndrome, and tuberous sclerosis complex, although has been predominantly assessed using questionnaire techniques. Threats to the precision and validity of questionnaire data may undermine existing insights into this behaviour. Previous research indicates objective measures, namely actigraphy, can effectively differentiate non-overactive children from those with attention-deficit hyperactivity disorder. This study is the first to examine the sensitivity of actigraphy to overactivity across rare genetic syndromes associated with intellectual disability, through comparisons with typically-developing peers and questionnaire overactivity estimates. METHODS: A secondary analysis of actigraphy data and overactivity estimates from The Activity Questionnaire (TAQ) was conducted for children aged 4-15 years with Smith-Magenis syndrome (N=20), Angelman syndrome (N=26), tuberous sclerosis complex (N=16), and typically-developing children (N=61). Actigraphy data were summarized using the M10 non-parametric circadian rhythm variable, and 24-hour activity profiles were modelled via functional linear modelling. Associations between actigraphy data and TAQ overactivity estimates were explored. Differences in actigraphy-defined activity were also examined between syndrome and typically-developing groups, and between children with high and low TAQ overactivity scores within syndromes. RESULTS: M10 and TAQ overactivity scores were strongly positively correlated for children with Angelman syndrome and Smith-Magenis syndrome. M10 did not substantially differ between the syndrome and typically-developing groups. Higher early morning activity and lower evening activity was observed across all syndrome groups relative to typically-developing peers. High and low TAQ group comparisons revealed syndrome-specific profiles of overactivity, persisting throughout the day in Angelman syndrome, occurring during the early morning and early afternoon in Smith-Magenis syndrome, and manifesting briefly in the evening in tuberous sclerosis complex. DISCUSSION: These findings provide some support for the sensitivity of actigraphy to overactivity in children with rare genetic syndromes, and offer syndrome-specific temporal descriptions of overactivity. The findings advance existing descriptions of overactivity, provided by questionnaire techniques, in children with rare genetic syndromes and have implications for the measurement of overactivity. Future studies should examine the impact of syndrome-related characteristics on actigraphy-defined activity and overactivity estimates from actigraphy and questionnaire techniques. En ligne : https://dx.doi.org/10.1186/s11689-024-09535-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575 [article] Exploring an objective measure of overactivity in children with rare genetic syndromes [texte imprimé] / Rory O'SULLIVAN, Auteur ; Stacey BISSELL, Auteur ; Georgie AGAR, Auteur ; Jayne SPILLER, Auteur ; Andrew SURTEES, Auteur ; Mary HEALD, Auteur ; Emma CLARKSON, Auteur ; Aamina KHAN, Auteur ; Christopher OLIVER, Auteur ; Andrew P. BAGSHAW, Auteur ; Caroline RICHARDS, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 16 (2024) Mots-clés : Child  Humans  Smith-Magenis Syndrome/complications  Angelman Syndrome/complications/diagnosis  Tuberous Sclerosis/complications  Intellectual Disability/complications  Actigraphy  Angelman syndrome  Children  Hyperactivity  Objective  Overactivity  Questionnaire  Rare genetic syndromes  Smith-Magenis syndrome  Tuberous sclerosis complex Index. décimale : PER Périodiques Résumé : BACKGROUND: Overactivity is prevalent in several rare genetic neurodevelopmental syndromes, including Smith-Magenis syndrome, Angelman syndrome, and tuberous sclerosis complex, although has been predominantly assessed using questionnaire techniques. Threats to the precision and validity of questionnaire data may undermine existing insights into this behaviour. Previous research indicates objective measures, namely actigraphy, can effectively differentiate non-overactive children from those with attention-deficit hyperactivity disorder. This study is the first to examine the sensitivity of actigraphy to overactivity across rare genetic syndromes associated with intellectual disability, through comparisons with typically-developing peers and questionnaire overactivity estimates. METHODS: A secondary analysis of actigraphy data and overactivity estimates from The Activity Questionnaire (TAQ) was conducted for children aged 4-15 years with Smith-Magenis syndrome (N=20), Angelman syndrome (N=26), tuberous sclerosis complex (N=16), and typically-developing children (N=61). Actigraphy data were summarized using the M10 non-parametric circadian rhythm variable, and 24-hour activity profiles were modelled via functional linear modelling. Associations between actigraphy data and TAQ overactivity estimates were explored. Differences in actigraphy-defined activity were also examined between syndrome and typically-developing groups, and between children with high and low TAQ overactivity scores within syndromes. RESULTS: M10 and TAQ overactivity scores were strongly positively correlated for children with Angelman syndrome and Smith-Magenis syndrome. M10 did not substantially differ between the syndrome and typically-developing groups. Higher early morning activity and lower evening activity was observed across all syndrome groups relative to typically-developing peers. High and low TAQ group comparisons revealed syndrome-specific profiles of overactivity, persisting throughout the day in Angelman syndrome, occurring during the early morning and early afternoon in Smith-Magenis syndrome, and manifesting briefly in the evening in tuberous sclerosis complex. DISCUSSION: These findings provide some support for the sensitivity of actigraphy to overactivity in children with rare genetic syndromes, and offer syndrome-specific temporal descriptions of overactivity. The findings advance existing descriptions of overactivity, provided by questionnaire techniques, in children with rare genetic syndromes and have implications for the measurement of overactivity. Future studies should examine the impact of syndrome-related characteristics on actigraphy-defined activity and overactivity estimates from actigraphy and questionnaire techniques. En ligne : https://dx.doi.org/10.1186/s11689-024-09535-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575

Neurobehavioral outcomes of neonatal asymptomatic congenital cytomegalovirus infection at 12-months / Sally M. STOYELL in Journal of Neurodevelopmental Disorders, 16 (2024)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 16 (2024) Titre : Neurobehavioral outcomes of neonatal asymptomatic congenital cytomegalovirus infection at 12-months Type de document : texte imprimé Auteurs : Sally M. STOYELL, Auteur ; Jed T. ELISON, Auteur ; Emily GRAUPMANN, Auteur ; Neely C. MILLER, Auteur ; Jessica EMERICK, Auteur ; Elizabeth RAMEY, Auteur ; Kristen SANDNESS, Auteur ; Mark R. SCHLEISS, Auteur ; Erin A. OSTERHOLM, Auteur Langues : Anglais (eng) Mots-clés : Infant, Newborn  Infant  Humans  Child, Preschool  Cytomegalovirus  Longitudinal Studies  Cytomegalovirus Infections/complications/epidemiology/diagnosis  Neonatal Screening/methods  Brain  Congenital CMV infection  Intellectual disability  TORCH infections Index. décimale : PER Périodiques Résumé : BACKGROUND: Congenital cytomegalovirus (cCMV) is the most common congenital viral infection in the United States. Symptomatic infections can cause severe hearing loss and neurological disability, although ~ 90% of cCMV infections are asymptomatic at birth. Despite its prevalence, the long-term neurobehavioral risks of asymptomatic cCMV infections are not fully understood. The objective of this work was to evaluate for potential long-term neurobehavioral sequelae in infants with asymptomatic cCMV. METHODS: Infants with cCMV were identified from a universal newborn cCMV screening study in a metropolitan area in the midwestern United States. Asymptomatic infants with cCMV were enrolled in a longitudinal neurodevelopmental study (N = 29). Age- and sex-matched healthy control infants (N = 193) were identified from the Baby Connectome Project (BCP), a longitudinal study of brain and behavioral development. The BCP sample supplemented an additional group of healthy control infants (N = 30), recruited from the same participant registry as the BCP specifically for comparison with infants with asymptomatic cCMV. Neurobehavioral assessments and parent questionnaires, including the Mullen Scales of Early Learning, the Repetitive Behavior Scales for Early Childhood (RBS-EC), and the Infant Toddler Social Emotional Assessment (ITSEA) were administered at 12 months of age. Neurobehavioral scores were compared between infants with asymptomatic cCMV and all identified healthy control infants. RESULTS: Infants with asymptomatic cCMV performed equivalently compared to healthy control infants on the neurobehavioral measures tested at 12 months of age. CONCLUSIONS: These results indicate that at 12 months of age, infants with asymptomatic cCMV are not statistically different from controls in a number of neurobehavioral domains. Although follow-up is ongoing, these observations provide reassurance about neurobehavioral outcomes for infants with asymptomatic cCMV and inform the ongoing discussion around universal screening. Additional follow-up will be necessary to understand the longer-term outcomes of these children. En ligne : https://dx.doi.org/10.1186/s11689-024-09533-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575 [article] Neurobehavioral outcomes of neonatal asymptomatic congenital cytomegalovirus infection at 12-months [texte imprimé] / Sally M. STOYELL, Auteur ; Jed T. ELISON, Auteur ; Emily GRAUPMANN, Auteur ; Neely C. MILLER, Auteur ; Jessica EMERICK, Auteur ; Elizabeth RAMEY, Auteur ; Kristen SANDNESS, Auteur ; Mark R. SCHLEISS, Auteur ; Erin A. OSTERHOLM, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 16 (2024) Mots-clés : Infant, Newborn  Infant  Humans  Child, Preschool  Cytomegalovirus  Longitudinal Studies  Cytomegalovirus Infections/complications/epidemiology/diagnosis  Neonatal Screening/methods  Brain  Congenital CMV infection  Intellectual disability  TORCH infections Index. décimale : PER Périodiques Résumé : BACKGROUND: Congenital cytomegalovirus (cCMV) is the most common congenital viral infection in the United States. Symptomatic infections can cause severe hearing loss and neurological disability, although ~ 90% of cCMV infections are asymptomatic at birth. Despite its prevalence, the long-term neurobehavioral risks of asymptomatic cCMV infections are not fully understood. The objective of this work was to evaluate for potential long-term neurobehavioral sequelae in infants with asymptomatic cCMV. METHODS: Infants with cCMV were identified from a universal newborn cCMV screening study in a metropolitan area in the midwestern United States. Asymptomatic infants with cCMV were enrolled in a longitudinal neurodevelopmental study (N = 29). Age- and sex-matched healthy control infants (N = 193) were identified from the Baby Connectome Project (BCP), a longitudinal study of brain and behavioral development. The BCP sample supplemented an additional group of healthy control infants (N = 30), recruited from the same participant registry as the BCP specifically for comparison with infants with asymptomatic cCMV. Neurobehavioral assessments and parent questionnaires, including the Mullen Scales of Early Learning, the Repetitive Behavior Scales for Early Childhood (RBS-EC), and the Infant Toddler Social Emotional Assessment (ITSEA) were administered at 12 months of age. Neurobehavioral scores were compared between infants with asymptomatic cCMV and all identified healthy control infants. RESULTS: Infants with asymptomatic cCMV performed equivalently compared to healthy control infants on the neurobehavioral measures tested at 12 months of age. CONCLUSIONS: These results indicate that at 12 months of age, infants with asymptomatic cCMV are not statistically different from controls in a number of neurobehavioral domains. Although follow-up is ongoing, these observations provide reassurance about neurobehavioral outcomes for infants with asymptomatic cCMV and inform the ongoing discussion around universal screening. Additional follow-up will be necessary to understand the longer-term outcomes of these children. En ligne : https://dx.doi.org/10.1186/s11689-024-09533-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575

An overview of current advances in perinatal alcohol exposure and pathogenesis of fetal alcohol spectrum disorders / Xingdong ZENG in Journal of Neurodevelopmental Disorders, 16 (2024)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 16 (2024) Titre : An overview of current advances in perinatal alcohol exposure and pathogenesis of fetal alcohol spectrum disorders Type de document : texte imprimé Auteurs : Xingdong ZENG, Auteur ; Yongle CAI, Auteur ; Mengyan WU, Auteur ; Haonan CHEN, Auteur ; Miao SUN, Auteur ; Hao YANG, Auteur Langues : Anglais (eng) Mots-clés : Humans  Female  Pregnancy  Fetal Alcohol Spectrum Disorders/epidemiology  Prenatal Exposure Delayed Effects/metabolism  Ethanol/adverse effects  Alcohol Drinking/adverse effects  Neurons/metabolism  Alcohol spectrum disorder  Fetal alcohol syndrome  Neuroinflammation  Neurotoxicity  Pathogenesis  Prenatal alcohol exposure Index. décimale : PER Périodiques Résumé : The adverse use of alcohol is a serious global public health problem. Maternal alcohol consumption during pregnancy usually causes prenatal alcohol exposure (PAE) in the developing fetus, leading to a spectrum of disorders known as fetal alcohol spectrum disorders (FASD) and even fetal alcohol syndrome (FAS) throughout the lifelong sufferers. The prevalence of FASD is approximately 7.7 per 1,000 worldwide, and is even higher in developed regions. Generally, Ethanol in alcoholic beverages can impair embryonic neurological development through multiple pathways leading to FASD. Among them, the leading mechanism of FASDs is attributed to ethanol-induced neuroinflammatory damage to the central nervous system (CNS). Although the underlying molecular mechanisms remain unclear, the remaining multiple pathological mechanisms is likely due to the neurotoxic damage of ethanol and the resultant neuronal loss. Regardless of the molecular pathway, the ultimate outcome of the developing CNS exposed to ethanol is almost always the destruction and apoptosis of neurons, which leads to the reduction of neurons and further the development of FASD. In this review, we systematically summarize the current research progress on the pathogenesis of FASD, which hopefully provides new insights into differential early diagnosis, treatment and prevention for patents with FASD. En ligne : https://dx.doi.org/10.1186/s11689-024-09537-w Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575 [article] An overview of current advances in perinatal alcohol exposure and pathogenesis of fetal alcohol spectrum disorders [texte imprimé] / Xingdong ZENG, Auteur ; Yongle CAI, Auteur ; Mengyan WU, Auteur ; Haonan CHEN, Auteur ; Miao SUN, Auteur ; Hao YANG, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 16 (2024) Mots-clés : Humans  Female  Pregnancy  Fetal Alcohol Spectrum Disorders/epidemiology  Prenatal Exposure Delayed Effects/metabolism  Ethanol/adverse effects  Alcohol Drinking/adverse effects  Neurons/metabolism  Alcohol spectrum disorder  Fetal alcohol syndrome  Neuroinflammation  Neurotoxicity  Pathogenesis  Prenatal alcohol exposure Index. décimale : PER Périodiques Résumé : The adverse use of alcohol is a serious global public health problem. Maternal alcohol consumption during pregnancy usually causes prenatal alcohol exposure (PAE) in the developing fetus, leading to a spectrum of disorders known as fetal alcohol spectrum disorders (FASD) and even fetal alcohol syndrome (FAS) throughout the lifelong sufferers. The prevalence of FASD is approximately 7.7 per 1,000 worldwide, and is even higher in developed regions. Generally, Ethanol in alcoholic beverages can impair embryonic neurological development through multiple pathways leading to FASD. Among them, the leading mechanism of FASDs is attributed to ethanol-induced neuroinflammatory damage to the central nervous system (CNS). Although the underlying molecular mechanisms remain unclear, the remaining multiple pathological mechanisms is likely due to the neurotoxic damage of ethanol and the resultant neuronal loss. Regardless of the molecular pathway, the ultimate outcome of the developing CNS exposed to ethanol is almost always the destruction and apoptosis of neurons, which leads to the reduction of neurons and further the development of FASD. In this review, we systematically summarize the current research progress on the pathogenesis of FASD, which hopefully provides new insights into differential early diagnosis, treatment and prevention for patents with FASD. En ligne : https://dx.doi.org/10.1186/s11689-024-09537-w Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575

Clinical and molecular outcomes from the 5-Year natural history study of SSADH Deficiency, a model metabolic neurodevelopmental disorder / Itay TOKATLY LATZER in Journal of Neurodevelopmental Disorders, 16 (2024)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 16 (2024) Titre : Clinical and molecular outcomes from the 5-Year natural history study of SSADH Deficiency, a model metabolic neurodevelopmental disorder Type de document : texte imprimé Auteurs : Itay TOKATLY LATZER, Auteur ; Jean-Baptiste ROULLET, Auteur ; Wardiya AFSHAR-SABER, Auteur ; Henry H.C. LEE, Auteur ; Mariarita BERTOLDI, Auteur ; Gabrielle E. MCGINTY, Auteur ; Melissa L. DIBACCO, Auteur ; Erland ARNING, Auteur ; Melissa TSUBOYAMA, Auteur ; Alexander ROTENBERG, Auteur ; Thomas OPLADEN, Auteur ; Kathrin JELTSCH, Auteur ; Àngels GARCÍA-CAZORLA, Auteur ; Natalia JULIÁ-PALACIOS, Auteur ; K Michael GIBSON, Auteur ; Mustafa SAHIN, Auteur ; Phillip L.. PEARL, Auteur Langues : Anglais (eng) Mots-clés : Adolescent  Animals  Child  Child, Preschool  Female  Humans  Male  Mice  Amino Acid Metabolism, Inborn  Errors/therapy/physiopathology/genetics/complications/metabolism  Brain/metabolism/physiopathology  Developmental Disabilities  Disease Models, Animal  GABAergic Neurons/metabolism  gamma-Aminobutyric Acid/metabolism  Induced Pluripotent Stem Cells/metabolism  Neurodevelopmental Disorders/metabolism/etiology/genetics  Succinate-Semialdehyde Dehydrogenase/deficiency/metabolism/genetics  Development  Gaba  Neurotransmitters  Succinic semialdehyde dehydrogenase  Inc., which develops treatments for SSADHD including gene replacement therapy  discussed in this study. Index. décimale : PER Périodiques Résumé : BACKGROUND: Succinic semialdehyde dehydrogenase deficiency (SSADHD) represents a model neurometabolic disease at the fulcrum of translational research within the Boston Children's Hospital Intellectual and Developmental Disabilities Research Centers (IDDRC), including the NIH-sponsored natural history study of clinical, neurophysiological, neuroimaging, and molecular markers, patient-derived induced pluripotent stem cells (iPSC) characterization, and development of a murine model for tightly regulated, cell-specific gene therapy. METHODS: SSADHD subjects underwent clinical evaluations, neuropsychological assessments, biochemical quantification of γ-aminobutyrate (GABA) and related metabolites, electroencephalography (standard and high density), magnetoencephalography, transcranial magnetic stimulation, magnetic resonance imaging and spectroscopy, and genetic tests. This was parallel to laboratory molecular investigations of in vitro GABAergic neurons derived from induced human pluripotent stem cells (hiPSCs) of SSADHD subjects and biochemical analyses performed on a versatile murine model that uses an inducible and reversible rescue strategy allowing on-demand and cell-specific gene therapy. RESULTS: The 62 SSADHD subjects [53% females, median (IQR) age of 9.6 (5.4-14.5) years] included in the study had a reported symptom onset at ∼ 6 months and were diagnosed at a median age of 4 years. Language developmental delays were more prominent than motor. Autism, epilepsy, movement disorders, sleep disturbances, and various psychiatric behaviors constituted the core of the disorder's clinical phenotype. Lower clinical severity scores, indicating worst severity, coincided with older age (R= -0.302, p = 0.03), as well as age-adjusted lower values of plasma γ-aminobutyrate (GABA) (R = 0.337, p = 0.02) and γ-hydroxybutyrate (GHB) (R = 0.360, p = 0.05). While epilepsy and psychiatric behaviors increase in severity with age, communication abilities and motor function tend to improve. iPSCs, which were differentiated into GABAergic neurons, represent the first in vitro neuronal model of SSADHD and express the neuronal marker microtubule-associated protein 2 (MAP2), as well as GABA. GABA-metabolism in induced GABAergic neurons could be reversed using CRISPR correction of the pathogenic variants or mRNA transfection and SSADHD iPSCs were associated with excessive glutamatergic activity and related synaptic excitation. CONCLUSIONS: Findings from the SSADHD Natural History Study converge with iPSC and animal model work focused on a common disorder within our IDDRC, deepening our knowledge of the pathophysiology and longitudinal clinical course of a complex neurodevelopmental disorder. This further enables the identification of biomarkers and changes throughout development that will be essential for upcoming targeted trials of enzyme replacement and gene therapy. En ligne : https://dx.doi.org/10.1186/s11689-024-09538-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575 [article] Clinical and molecular outcomes from the 5-Year natural history study of SSADH Deficiency, a model metabolic neurodevelopmental disorder [texte imprimé] / Itay TOKATLY LATZER, Auteur ; Jean-Baptiste ROULLET, Auteur ; Wardiya AFSHAR-SABER, Auteur ; Henry H.C. LEE, Auteur ; Mariarita BERTOLDI, Auteur ; Gabrielle E. MCGINTY, Auteur ; Melissa L. DIBACCO, Auteur ; Erland ARNING, Auteur ; Melissa TSUBOYAMA, Auteur ; Alexander ROTENBERG, Auteur ; Thomas OPLADEN, Auteur ; Kathrin JELTSCH, Auteur ; Àngels GARCÍA-CAZORLA, Auteur ; Natalia JULIÁ-PALACIOS, Auteur ; K Michael GIBSON, Auteur ; Mustafa SAHIN, Auteur ; Phillip L.. PEARL, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 16 (2024) Mots-clés : Adolescent  Animals  Child  Child, Preschool  Female  Humans  Male  Mice  Amino Acid Metabolism, Inborn  Errors/therapy/physiopathology/genetics/complications/metabolism  Brain/metabolism/physiopathology  Developmental Disabilities  Disease Models, Animal  GABAergic Neurons/metabolism  gamma-Aminobutyric Acid/metabolism  Induced Pluripotent Stem Cells/metabolism  Neurodevelopmental Disorders/metabolism/etiology/genetics  Succinate-Semialdehyde Dehydrogenase/deficiency/metabolism/genetics  Development  Gaba  Neurotransmitters  Succinic semialdehyde dehydrogenase  Inc., which develops treatments for SSADHD including gene replacement therapy  discussed in this study. Index. décimale : PER Périodiques Résumé : BACKGROUND: Succinic semialdehyde dehydrogenase deficiency (SSADHD) represents a model neurometabolic disease at the fulcrum of translational research within the Boston Children's Hospital Intellectual and Developmental Disabilities Research Centers (IDDRC), including the NIH-sponsored natural history study of clinical, neurophysiological, neuroimaging, and molecular markers, patient-derived induced pluripotent stem cells (iPSC) characterization, and development of a murine model for tightly regulated, cell-specific gene therapy. METHODS: SSADHD subjects underwent clinical evaluations, neuropsychological assessments, biochemical quantification of γ-aminobutyrate (GABA) and related metabolites, electroencephalography (standard and high density), magnetoencephalography, transcranial magnetic stimulation, magnetic resonance imaging and spectroscopy, and genetic tests. This was parallel to laboratory molecular investigations of in vitro GABAergic neurons derived from induced human pluripotent stem cells (hiPSCs) of SSADHD subjects and biochemical analyses performed on a versatile murine model that uses an inducible and reversible rescue strategy allowing on-demand and cell-specific gene therapy. RESULTS: The 62 SSADHD subjects [53% females, median (IQR) age of 9.6 (5.4-14.5) years] included in the study had a reported symptom onset at ∼ 6 months and were diagnosed at a median age of 4 years. Language developmental delays were more prominent than motor. Autism, epilepsy, movement disorders, sleep disturbances, and various psychiatric behaviors constituted the core of the disorder's clinical phenotype. Lower clinical severity scores, indicating worst severity, coincided with older age (R= -0.302, p = 0.03), as well as age-adjusted lower values of plasma γ-aminobutyrate (GABA) (R = 0.337, p = 0.02) and γ-hydroxybutyrate (GHB) (R = 0.360, p = 0.05). While epilepsy and psychiatric behaviors increase in severity with age, communication abilities and motor function tend to improve. iPSCs, which were differentiated into GABAergic neurons, represent the first in vitro neuronal model of SSADHD and express the neuronal marker microtubule-associated protein 2 (MAP2), as well as GABA. GABA-metabolism in induced GABAergic neurons could be reversed using CRISPR correction of the pathogenic variants or mRNA transfection and SSADHD iPSCs were associated with excessive glutamatergic activity and related synaptic excitation. CONCLUSIONS: Findings from the SSADHD Natural History Study converge with iPSC and animal model work focused on a common disorder within our IDDRC, deepening our knowledge of the pathophysiology and longitudinal clinical course of a complex neurodevelopmental disorder. This further enables the identification of biomarkers and changes throughout development that will be essential for upcoming targeted trials of enzyme replacement and gene therapy. En ligne : https://dx.doi.org/10.1186/s11689-024-09538-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575

Behavioral changes in patients with Prader-Willi syndrome receiving diazoxide choline extended-release tablets compared to the PATH for PWS natural history study / Theresa V. STRONG in Journal of Neurodevelopmental Disorders, 16 (2024)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 16 (2024) Titre : Behavioral changes in patients with Prader-Willi syndrome receiving diazoxide choline extended-release tablets compared to the PATH for PWS natural history study Type de document : texte imprimé Auteurs : Theresa V. STRONG, Auteur ; Jennifer L. MILLER, Auteur ; Shawn E. MCCANDLESS, Auteur ; Evelien GEVERS, Auteur ; Jack A. YANOVSKI, Auteur ; Lisa MATESEVAC, Auteur ; Jessica BOHONOWYCH, Auteur ; Shaila BALLAL, Auteur ; Kristen YEN, Auteur ; Patricia HIRANO, Auteur ; Neil M. COWEN, Auteur ; Anish BHATNAGAR, Auteur Langues : Anglais (eng) Mots-clés : Humans  Prader-Willi Syndrome/complications/drug therapy  Female  Male  Hyperphagia/drug therapy/etiology  Child  Adult  Adolescent  Diazoxide/administration & dosage/pharmacology  Young Adult  Delayed-Action Preparations  Child, Preschool  Cohort Studies  Dccr  Hyperphagia  Natural history  Prader-Willi syndrome  JLM, SEM, EG, and JAY received funding from Soleno to support the conduct of the  clinical trial. EG reports receipt of lecturing and consulting fees from Soleno.  JAY reports grant support from Soleno Therapeutics and from Rhythm  Pharmaceuticals for obesity-related projects, and material support for research  from Hikma Pharmaceuticals and Versanis-Bio and is supported by the Intramural  Research Program of the Eunice Kennedy Shriver National Institute of Child Health  and Human Development, National Institutes of Health, ZIAHD000641. TVS, JB and LM  are employed by FPWR. Index. décimale : PER Périodiques Résumé : BACKGROUND: Prader-Willi syndrome (PWS) is a rare neurobehavioral-metabolic disease caused by the lack of paternally expressed genes in the chromosome 15q11-q13 region, characterized by hypotonia, neurocognitive problems, behavioral difficulties, endocrinopathies, and hyperphagia resulting in severe obesity if energy intake is not controlled. Diazoxide choline extended-release (DCCR) tablets have previously been evaluated for their effects on hyperphagia and other behavioral complications of people with PWS in a Phase 3 placebo-controlled study of participants with PWS, age 4 and older with hyperphagia (C601) and in an open label extension study, C602. METHODS: To better understand the longer-term impact of DCCR, a cohort from PATH for PWS, a natural history study that enrolled participants with PWS age 5 and older, who met the C601 age, weight and baseline hyperphagia inclusion criteria and had 2 hyperphagia assessments ≥ 6 months apart, were compared to the C601/C602 cohort. Hyperphagia was measured using the Hyperphagia Questionnaire for Clinical Trials (HQ-CT, range 0-36). The primary analysis used observed values with no explicit imputation of missing data. A sensitivity analysis was conducted in which all missing HQ-CT assessments in the C601/C602 cohort were assigned the highest possible value (36), representing the worst-case scenario. Other behavioral changes were assessed using the Prader-Willi Syndrome Profile questionnaire (PWSP). RESULTS: Relative to the PATH for PWS natural history study cohort, the DCCR-treated C601/C602 cohort showed significant improvements in HQ-CT score at 26 weeks (LSmean [SE] -8.3 [0.75] vs. -2.5 [0.43], p < 0.001) and 52 weeks (LSmean [SE] -9.2 [0.77] vs. -3.4 [0.47], p < 0.001). The comparison between the cohorts remained significant in the worst-case imputation sensitivity analysis. There were also significant improvements in all domains of the PWSP at 26 weeks (all p < 0.001) and 52 weeks (all p ≤ 0.003) for C601/C602 participants compared to the PATH for PWS participants. CONCLUSION: Long-term administration of DCCR to people with PWS resulted in changes in hyperphagia and other behavioral complications of PWS that are distinct from the natural history of the syndrome as exemplified by the cohort from PATH for PWS. The combined effects of administration of DCCR should reduce the burden of the syndrome on the patient, caregivers and their families, and thereby may benefit people with PWS and their families. TRIAL REGISTRATION: Clinical study C601 was originally registered on ClinicalTrials.gov on February 22, 2018 (NCT03440814). Clinical study C602 was originally registered on ClinicalTrials.gov on October 22, 2018 (NCT03714373). PATH for PWS was originally registered on ClinicalTrials.gov on October 24, 2018 (NCT03718416). En ligne : https://dx.doi.org/10.1186/s11689-024-09536-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575 [article] Behavioral changes in patients with Prader-Willi syndrome receiving diazoxide choline extended-release tablets compared to the PATH for PWS natural history study [texte imprimé] / Theresa V. STRONG, Auteur ; Jennifer L. MILLER, Auteur ; Shawn E. MCCANDLESS, Auteur ; Evelien GEVERS, Auteur ; Jack A. YANOVSKI, Auteur ; Lisa MATESEVAC, Auteur ; Jessica BOHONOWYCH, Auteur ; Shaila BALLAL, Auteur ; Kristen YEN, Auteur ; Patricia HIRANO, Auteur ; Neil M. COWEN, Auteur ; Anish BHATNAGAR, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 16 (2024) Mots-clés : Humans  Prader-Willi Syndrome/complications/drug therapy  Female  Male  Hyperphagia/drug therapy/etiology  Child  Adult  Adolescent  Diazoxide/administration & dosage/pharmacology  Young Adult  Delayed-Action Preparations  Child, Preschool  Cohort Studies  Dccr  Hyperphagia  Natural history  Prader-Willi syndrome  JLM, SEM, EG, and JAY received funding from Soleno to support the conduct of the  clinical trial. EG reports receipt of lecturing and consulting fees from Soleno.  JAY reports grant support from Soleno Therapeutics and from Rhythm  Pharmaceuticals for obesity-related projects, and material support for research  from Hikma Pharmaceuticals and Versanis-Bio and is supported by the Intramural  Research Program of the Eunice Kennedy Shriver National Institute of Child Health  and Human Development, National Institutes of Health, ZIAHD000641. TVS, JB and LM  are employed by FPWR. Index. décimale : PER Périodiques Résumé : BACKGROUND: Prader-Willi syndrome (PWS) is a rare neurobehavioral-metabolic disease caused by the lack of paternally expressed genes in the chromosome 15q11-q13 region, characterized by hypotonia, neurocognitive problems, behavioral difficulties, endocrinopathies, and hyperphagia resulting in severe obesity if energy intake is not controlled. Diazoxide choline extended-release (DCCR) tablets have previously been evaluated for their effects on hyperphagia and other behavioral complications of people with PWS in a Phase 3 placebo-controlled study of participants with PWS, age 4 and older with hyperphagia (C601) and in an open label extension study, C602. METHODS: To better understand the longer-term impact of DCCR, a cohort from PATH for PWS, a natural history study that enrolled participants with PWS age 5 and older, who met the C601 age, weight and baseline hyperphagia inclusion criteria and had 2 hyperphagia assessments ≥ 6 months apart, were compared to the C601/C602 cohort. Hyperphagia was measured using the Hyperphagia Questionnaire for Clinical Trials (HQ-CT, range 0-36). The primary analysis used observed values with no explicit imputation of missing data. A sensitivity analysis was conducted in which all missing HQ-CT assessments in the C601/C602 cohort were assigned the highest possible value (36), representing the worst-case scenario. Other behavioral changes were assessed using the Prader-Willi Syndrome Profile questionnaire (PWSP). RESULTS: Relative to the PATH for PWS natural history study cohort, the DCCR-treated C601/C602 cohort showed significant improvements in HQ-CT score at 26 weeks (LSmean [SE] -8.3 [0.75] vs. -2.5 [0.43], p < 0.001) and 52 weeks (LSmean [SE] -9.2 [0.77] vs. -3.4 [0.47], p < 0.001). The comparison between the cohorts remained significant in the worst-case imputation sensitivity analysis. There were also significant improvements in all domains of the PWSP at 26 weeks (all p < 0.001) and 52 weeks (all p ≤ 0.003) for C601/C602 participants compared to the PATH for PWS participants. CONCLUSION: Long-term administration of DCCR to people with PWS resulted in changes in hyperphagia and other behavioral complications of PWS that are distinct from the natural history of the syndrome as exemplified by the cohort from PATH for PWS. The combined effects of administration of DCCR should reduce the burden of the syndrome on the patient, caregivers and their families, and thereby may benefit people with PWS and their families. TRIAL REGISTRATION: Clinical study C601 was originally registered on ClinicalTrials.gov on February 22, 2018 (NCT03440814). Clinical study C602 was originally registered on ClinicalTrials.gov on October 22, 2018 (NCT03714373). PATH for PWS was originally registered on ClinicalTrials.gov on October 24, 2018 (NCT03718416). En ligne : https://dx.doi.org/10.1186/s11689-024-09536-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575

Sex differences during development in cortical temporal processing and event related potentials in wild-type and fragile X syndrome model mice / Katilynne CROOM in Journal of Neurodevelopmental Disorders, 16 (2024)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 16 (2024) Titre : Sex differences during development in cortical temporal processing and event related potentials in wild-type and fragile X syndrome model mice Type de document : texte imprimé Auteurs : Katilynne CROOM, Auteur ; Jeffrey A. RUMSCHLAG, Auteur ; Michael A. ERICKSON, Auteur ; Devin BINDER, Auteur ; Khaleel A. RAZAK, Auteur Langues : Anglais (eng) Mots-clés : Animals  Fragile X Syndrome/physiopathology  Female  Male  Disease Models, Animal  Mice  Sex Characteristics  Mice, Knockout  Evoked Potentials, Auditory/physiology  Fragile X Mental Retardation Protein/genetics  Auditory Perception/physiology  Autism Spectrum Disorder/physiopathology  Auditory Cortex/physiopathology  Mice, Inbred C57BL  Autism Spectrum Disorders  Frontal Cortex  Hypersensitivity  Language Impairments  Neurodevelopment  Sensory Processing Disorders  Temporal Processing Index. décimale : PER Périodiques Résumé : BACKGROUND: Autism spectrum disorder (ASD) is currently diagnosed in approximately 1 in 44 children in the United States, based on a wide array of symptoms, including sensory dysfunction and abnormal language development. Boys are diagnosed ~ 3.8 times more frequently than girls. Auditory temporal processing is crucial for speech recognition and language development. Abnormal development of temporal processing may account for ASD language impairments. Sex differences in the development of temporal processing may underlie the differences in language outcomes in male and female children with ASD. To understand mechanisms of potential sex differences in temporal processing requires a preclinical model. However, there are no studies that have addressed sex differences in temporal processing across development in any animal model of ASD. METHODS: To fill this major gap, we compared the development of auditory temporal processing in male and female wildtype (WT) and Fmr1 knock-out (KO) mice, a model of Fragile X Syndrome (FXS), a leading genetic cause of ASD-associated behaviors. Using epidural screw electrodes, we recorded auditory event related potentials (ERP) and auditory temporal processing with a gap-in-noise auditory steady state response (ASSR) paradigm at young (postnatal (p)21 and p30) and adult (p60) ages from both auditory and frontal cortices of awake, freely moving mice. RESULTS: The results show that ERP amplitudes were enhanced in both sexes of Fmr1 KO mice across development compared to WT counterparts, with greater enhancement in adult female than adult male KO mice. Gap-ASSR deficits were seen in the frontal, but not auditory, cortex in early development (p21) in female KO mice. Unlike male KO mice, female KO mice show WT-like temporal processing at p30. There were no temporal processing deficits in the adult mice of both sexes. CONCLUSIONS: These results show a sex difference in the developmental trajectories of temporal processing and hypersensitive responses in Fmr1 KO mice. Male KO mice show slower maturation of temporal processing than females. Female KO mice show stronger hypersensitive responses than males later in development. The differences in maturation rates of temporal processing and hypersensitive responses during various critical periods of development may lead to sex differences in language function, arousal and anxiety in FXS. En ligne : https://dx.doi.org/10.1186/s11689-024-09539-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575 [article] Sex differences during development in cortical temporal processing and event related potentials in wild-type and fragile X syndrome model mice [texte imprimé] / Katilynne CROOM, Auteur ; Jeffrey A. RUMSCHLAG, Auteur ; Michael A. ERICKSON, Auteur ; Devin BINDER, Auteur ; Khaleel A. RAZAK, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 16 (2024) Mots-clés : Animals  Fragile X Syndrome/physiopathology  Female  Male  Disease Models, Animal  Mice  Sex Characteristics  Mice, Knockout  Evoked Potentials, Auditory/physiology  Fragile X Mental Retardation Protein/genetics  Auditory Perception/physiology  Autism Spectrum Disorder/physiopathology  Auditory Cortex/physiopathology  Mice, Inbred C57BL  Autism Spectrum Disorders  Frontal Cortex  Hypersensitivity  Language Impairments  Neurodevelopment  Sensory Processing Disorders  Temporal Processing Index. décimale : PER Périodiques Résumé : BACKGROUND: Autism spectrum disorder (ASD) is currently diagnosed in approximately 1 in 44 children in the United States, based on a wide array of symptoms, including sensory dysfunction and abnormal language development. Boys are diagnosed ~ 3.8 times more frequently than girls. Auditory temporal processing is crucial for speech recognition and language development. Abnormal development of temporal processing may account for ASD language impairments. Sex differences in the development of temporal processing may underlie the differences in language outcomes in male and female children with ASD. To understand mechanisms of potential sex differences in temporal processing requires a preclinical model. However, there are no studies that have addressed sex differences in temporal processing across development in any animal model of ASD. METHODS: To fill this major gap, we compared the development of auditory temporal processing in male and female wildtype (WT) and Fmr1 knock-out (KO) mice, a model of Fragile X Syndrome (FXS), a leading genetic cause of ASD-associated behaviors. Using epidural screw electrodes, we recorded auditory event related potentials (ERP) and auditory temporal processing with a gap-in-noise auditory steady state response (ASSR) paradigm at young (postnatal (p)21 and p30) and adult (p60) ages from both auditory and frontal cortices of awake, freely moving mice. RESULTS: The results show that ERP amplitudes were enhanced in both sexes of Fmr1 KO mice across development compared to WT counterparts, with greater enhancement in adult female than adult male KO mice. Gap-ASSR deficits were seen in the frontal, but not auditory, cortex in early development (p21) in female KO mice. Unlike male KO mice, female KO mice show WT-like temporal processing at p30. There were no temporal processing deficits in the adult mice of both sexes. CONCLUSIONS: These results show a sex difference in the developmental trajectories of temporal processing and hypersensitive responses in Fmr1 KO mice. Male KO mice show slower maturation of temporal processing than females. Female KO mice show stronger hypersensitive responses than males later in development. The differences in maturation rates of temporal processing and hypersensitive responses during various critical periods of development may lead to sex differences in language function, arousal and anxiety in FXS. En ligne : https://dx.doi.org/10.1186/s11689-024-09539-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575

Reduced lateralization of multiple functional brain networks in autistic males / Madeline PETERSON in Journal of Neurodevelopmental Disorders, 16 (2024)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 16 (2024) Titre : Reduced lateralization of multiple functional brain networks in autistic males Type de document : texte imprimé Auteurs : Madeline PETERSON, Auteur ; Molly B.D. PRIGGE, Auteur ; Dorothea L. FLORIS, Auteur ; Erin D. BIGLER, Auteur ; Brandon A. ZIELINSKI, Auteur ; Jace B. KING, Auteur ; Nicholas LANGE, Auteur ; Andrew L. ALEXANDER, Auteur ; Janet E. LAINHART, Auteur ; Jared A. NIELSEN, Auteur Langues : Anglais (eng) Mots-clés : Humans  Male  Functional Laterality/physiology  Magnetic Resonance Imaging  Brain/physiopathology/diagnostic imaging  Adult  Young Adult  Cross-Sectional Studies  Adolescent  Autism Spectrum Disorder/physiopathology  Nerve Net/physiopathology/diagnostic imaging  Autistic Disorder/physiopathology  Child  Language  Asd  Asymmetry  Autism  Autism spectrum disorder  Brain networks  Lateralization  Network lateralization  Neurodevelopmental conditions  Neuroimaging  fMRI Index. décimale : PER Périodiques Résumé : BACKGROUND: Autism spectrum disorder has been linked to a variety of organizational and developmental deviations in the brain. One such organizational difference involves hemispheric lateralization, which may be localized to language-relevant regions of the brain or distributed more broadly. METHODS: In the present study, we estimated brain hemispheric lateralization in autism based on each participant's unique functional neuroanatomy rather than relying on group-averaged data. Additionally, we explored potential relationships between the lateralization of the language network and behavioral phenotypes including verbal ability, language delay, and autism symptom severity. We hypothesized that differences in hemispheric asymmetries in autism would be limited to the language network, with the alternative hypothesis of pervasive differences in lateralization. We tested this and other hypotheses by employing a cross-sectional dataset of 118 individuals (48 autistic, 70 neurotypical). Using resting-state fMRI, we generated individual network parcellations and estimated network asymmetries using a surface area-based approach. A series of multiple regressions were then used to compare network asymmetries for eight significantly lateralized networks between groups. RESULTS: We found significant group differences in lateralization for the left-lateralized Language (d = -0.89), right-lateralized Salience/Ventral Attention-A (d = 0.55), and right-lateralized Control-B (d = 0.51) networks, with the direction of these group differences indicating less asymmetry in autistic males. These differences were robust across different datasets from the same participants. Furthermore, we found that language delay stratified language lateralization, with the greatest group differences in language lateralization occurring between autistic males with language delay and neurotypical individuals. CONCLUSIONS: These findings evidence a complex pattern of functional lateralization differences in autism, extending beyond the Language network to the Salience/Ventral Attention-A and Control-B networks, yet not encompassing all networks, indicating a selective divergence rather than a pervasive one. Moreover, we observed an association between Language network lateralization and language delay in autistic males. En ligne : https://dx.doi.org/10.1186/s11689-024-09529-w Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575 [article] Reduced lateralization of multiple functional brain networks in autistic males [texte imprimé] / Madeline PETERSON, Auteur ; Molly B.D. PRIGGE, Auteur ; Dorothea L. FLORIS, Auteur ; Erin D. BIGLER, Auteur ; Brandon A. ZIELINSKI, Auteur ; Jace B. KING, Auteur ; Nicholas LANGE, Auteur ; Andrew L. ALEXANDER, Auteur ; Janet E. LAINHART, Auteur ; Jared A. NIELSEN, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 16 (2024) Mots-clés : Humans  Male  Functional Laterality/physiology  Magnetic Resonance Imaging  Brain/physiopathology/diagnostic imaging  Adult  Young Adult  Cross-Sectional Studies  Adolescent  Autism Spectrum Disorder/physiopathology  Nerve Net/physiopathology/diagnostic imaging  Autistic Disorder/physiopathology  Child  Language  Asd  Asymmetry  Autism  Autism spectrum disorder  Brain networks  Lateralization  Network lateralization  Neurodevelopmental conditions  Neuroimaging  fMRI Index. décimale : PER Périodiques Résumé : BACKGROUND: Autism spectrum disorder has been linked to a variety of organizational and developmental deviations in the brain. One such organizational difference involves hemispheric lateralization, which may be localized to language-relevant regions of the brain or distributed more broadly. METHODS: In the present study, we estimated brain hemispheric lateralization in autism based on each participant's unique functional neuroanatomy rather than relying on group-averaged data. Additionally, we explored potential relationships between the lateralization of the language network and behavioral phenotypes including verbal ability, language delay, and autism symptom severity. We hypothesized that differences in hemispheric asymmetries in autism would be limited to the language network, with the alternative hypothesis of pervasive differences in lateralization. We tested this and other hypotheses by employing a cross-sectional dataset of 118 individuals (48 autistic, 70 neurotypical). Using resting-state fMRI, we generated individual network parcellations and estimated network asymmetries using a surface area-based approach. A series of multiple regressions were then used to compare network asymmetries for eight significantly lateralized networks between groups. RESULTS: We found significant group differences in lateralization for the left-lateralized Language (d = -0.89), right-lateralized Salience/Ventral Attention-A (d = 0.55), and right-lateralized Control-B (d = 0.51) networks, with the direction of these group differences indicating less asymmetry in autistic males. These differences were robust across different datasets from the same participants. Furthermore, we found that language delay stratified language lateralization, with the greatest group differences in language lateralization occurring between autistic males with language delay and neurotypical individuals. CONCLUSIONS: These findings evidence a complex pattern of functional lateralization differences in autism, extending beyond the Language network to the Salience/Ventral Attention-A and Control-B networks, yet not encompassing all networks, indicating a selective divergence rather than a pervasive one. Moreover, we observed an association between Language network lateralization and language delay in autistic males. En ligne : https://dx.doi.org/10.1186/s11689-024-09529-w Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575

Clinical, genetic, and cognitive correlates of seizure occurrences in Phelan-McDermid syndrome / Tess LEVY in Journal of Neurodevelopmental Disorders, 16 (2024)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 16 (2024) Titre : Clinical, genetic, and cognitive correlates of seizure occurrences in Phelan-McDermid syndrome Type de document : texte imprimé Auteurs : Tess LEVY, Auteur ; Jacob GLUCKMAN, Auteur ; Paige M. SIPER, Auteur ; Danielle HALPERN, Auteur ; Jessica ZWEIFACH, Auteur ; Rajna FILIP-DHIMA, Auteur ; J. Lloyd Jr HOLDER, Auteur ; M. Pilar TRELLES, Auteur ; Kristina JOHNSON, Auteur ; Jonathan A. BERNSTEIN, Auteur ; Elizabeth BERRY-KRAVIS, Auteur ; Craig M. POWELL, Auteur ; Latha Valluripalli SOORYA, Auteur ; Audrey THURM, Auteur ; Joseph D. BUXBAUM, Auteur ; Mustafa SAHIN, Auteur ; Alexander KOLEVZON, Auteur ; Siddharth SRIVASTAVA, Auteur ; DEVELOPMENTAL SYNAPTOPATHIES CONSORTIUM, Auteur Langues : Anglais (eng) Mots-clés : Humans  Male  Female  Seizures/genetics  Chromosome Deletion  Chromosome Disorders/complications/genetics/physiopathology  Chromosomes, Human, Pair 22/genetics  Child  Child, Preschool  Adolescent  Longitudinal Studies  Young Adult  Adult  Prospective Studies  Infant  Nerve Tissue Proteins/genetics  22q13  Epilepsy  Phelan-McDermid syndrome  Shank3  Seizures Index. décimale : PER Périodiques Résumé : BACKGROUND: Phelan-McDermid syndrome (PMS) is a genetic neurodevelopmental disorder caused by SHANK3 haploinsufficiency and is associated with an increased risk for seizures. Previous literature indicates that around one third of individuals with PMS also have epilepsy or seizures, with a wide range of types and ages of onset. Investigating the impact of seizures on intellectual and adaptive functioning for PMS is a primary concern for caregivers and is important to understanding the natural history of this syndrome. METHODS: We report on results from 98 individuals enrolled in a prospective, longitudinal study. We detailed seizure frequency, type, and age of onset, and we analyzed seizure occurrence with best estimate IQ, adaptive functioning, clinical features, and genotype. We conducted multiple linear regression analyses to assess the relationship between the presence of seizures and the Vineland Adaptive Behavior Scale, Second Edition (VABS-II) Adaptive Behavior Composite score and the best estimate full-scale IQ. We also performed Chi-square tests to explore associations between seizure prevalence and genetic groupings. Finally, we performed Chi-square tests and t-tests to explore the relationship between seizures and demographic features, features that manifest in infancy, and medical features. RESULTS: Seizures were present in 41% of the cohort, and age of onset was widely variable. The presence of seizures was associated with significantly lower adaptive and intellectual functioning. Genotype-phenotype analyses were discrepant, with no differences in seizure prevalence across genetic classes, but with more genes included in deletions of participants with 22q13 deletions and seizures compared to those with 22q13 deletions and no seizures. No clinical associations were found between the presence of seizures and sex, history of pre- or neonatal complications, early infancy, or medical features. In this cohort, generalized seizures were associated with developmental regression, which is a top concern for PMS caregivers. CONCLUSIONS: These results begin to eludicate correlates of seizures in individuals with PMS and highlight the importance of early seizure management. Importantly, presence of seizures was associated with adaptive and cognitive functioning. A larger cohort might be able to identify additional associations with medical features. Genetic findings suggest an increased capability to realize genotype-phenotype relationships when deletion size is taken into account. En ligne : https://dx.doi.org/10.1186/s11689-024-09541-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575 [article] Clinical, genetic, and cognitive correlates of seizure occurrences in Phelan-McDermid syndrome [texte imprimé] / Tess LEVY, Auteur ; Jacob GLUCKMAN, Auteur ; Paige M. SIPER, Auteur ; Danielle HALPERN, Auteur ; Jessica ZWEIFACH, Auteur ; Rajna FILIP-DHIMA, Auteur ; J. Lloyd Jr HOLDER, Auteur ; M. Pilar TRELLES, Auteur ; Kristina JOHNSON, Auteur ; Jonathan A. BERNSTEIN, Auteur ; Elizabeth BERRY-KRAVIS, Auteur ; Craig M. POWELL, Auteur ; Latha Valluripalli SOORYA, Auteur ; Audrey THURM, Auteur ; Joseph D. BUXBAUM, Auteur ; Mustafa SAHIN, Auteur ; Alexander KOLEVZON, Auteur ; Siddharth SRIVASTAVA, Auteur ; DEVELOPMENTAL SYNAPTOPATHIES CONSORTIUM, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 16 (2024) Mots-clés : Humans  Male  Female  Seizures/genetics  Chromosome Deletion  Chromosome Disorders/complications/genetics/physiopathology  Chromosomes, Human, Pair 22/genetics  Child  Child, Preschool  Adolescent  Longitudinal Studies  Young Adult  Adult  Prospective Studies  Infant  Nerve Tissue Proteins/genetics  22q13  Epilepsy  Phelan-McDermid syndrome  Shank3  Seizures Index. décimale : PER Périodiques Résumé : BACKGROUND: Phelan-McDermid syndrome (PMS) is a genetic neurodevelopmental disorder caused by SHANK3 haploinsufficiency and is associated with an increased risk for seizures. Previous literature indicates that around one third of individuals with PMS also have epilepsy or seizures, with a wide range of types and ages of onset. Investigating the impact of seizures on intellectual and adaptive functioning for PMS is a primary concern for caregivers and is important to understanding the natural history of this syndrome. METHODS: We report on results from 98 individuals enrolled in a prospective, longitudinal study. We detailed seizure frequency, type, and age of onset, and we analyzed seizure occurrence with best estimate IQ, adaptive functioning, clinical features, and genotype. We conducted multiple linear regression analyses to assess the relationship between the presence of seizures and the Vineland Adaptive Behavior Scale, Second Edition (VABS-II) Adaptive Behavior Composite score and the best estimate full-scale IQ. We also performed Chi-square tests to explore associations between seizure prevalence and genetic groupings. Finally, we performed Chi-square tests and t-tests to explore the relationship between seizures and demographic features, features that manifest in infancy, and medical features. RESULTS: Seizures were present in 41% of the cohort, and age of onset was widely variable. The presence of seizures was associated with significantly lower adaptive and intellectual functioning. Genotype-phenotype analyses were discrepant, with no differences in seizure prevalence across genetic classes, but with more genes included in deletions of participants with 22q13 deletions and seizures compared to those with 22q13 deletions and no seizures. No clinical associations were found between the presence of seizures and sex, history of pre- or neonatal complications, early infancy, or medical features. In this cohort, generalized seizures were associated with developmental regression, which is a top concern for PMS caregivers. CONCLUSIONS: These results begin to eludicate correlates of seizures in individuals with PMS and highlight the importance of early seizure management. Importantly, presence of seizures was associated with adaptive and cognitive functioning. A larger cohort might be able to identify additional associations with medical features. Genetic findings suggest an increased capability to realize genotype-phenotype relationships when deletion size is taken into account. En ligne : https://dx.doi.org/10.1186/s11689-024-09541-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575

Rescue of impaired blood-brain barrier in tuberous sclerosis complex patient derived neurovascular unit / Jacquelyn A. BROWN in Journal of Neurodevelopmental Disorders, 16 (2024)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 16 (2024) Titre : Rescue of impaired blood-brain barrier in tuberous sclerosis complex patient derived neurovascular unit Type de document : texte imprimé Auteurs : Jacquelyn A. BROWN, Auteur ; Shannon L. FALEY, Auteur ; Monika JUDGE, Auteur ; Patricia WARD, Auteur ; Rebecca A. IHRIE, Auteur ; Robert CARSON, Auteur ; Laura ARMSTRONG, Auteur ; Mustafa SAHIN, Auteur ; John P. WIKSWO, Auteur ; Kevin C. ESS, Auteur ; M. Diana NEELY, Auteur Langues : Anglais (eng) Mots-clés : Tuberous Sclerosis/physiopathology/genetics  Humans  Blood-Brain Barrier/physiopathology  Tuberous Sclerosis Complex 2 Protein/genetics  Induced Pluripotent Stem Cells  Sirolimus/pharmacology  Astrocytes/metabolism  Astrocytes  Bbb  Human stem cells  Microfluidics  Rapamycin  Tissue chips  mTOR  Bridgebio, and Aucta. He has served on Scientific Advisory Boards for Novartis,  Roche, Regenxbio, SpringWorks Therapeutics, Jaguar Therapeutics, and Alkermes. Index. décimale : PER Périodiques Résumé : BACKGROUND: Tuberous sclerosis complex (TSC) is a multi-system genetic disease that causes benign tumors in the brain and other vital organs. The most debilitating symptoms result from involvement of the central nervous system and lead to a multitude of severe symptoms including seizures, intellectual disability, autism, and behavioral problems. TSC is caused by heterozygous mutations of either the TSC1 or TSC2 gene and dysregulation of mTOR kinase with its multifaceted downstream signaling alterations is central to disease pathogenesis. Although the neurological sequelae of the disease are well established, little is known about how these mutations might affect cellular components and the function of the blood-brain barrier (BBB). METHODS: We generated TSC disease-specific cell models of the BBB by leveraging human induced pluripotent stem cell and microfluidic cell culture technologies. RESULTS: Using microphysiological systems, we demonstrate that a BBB generated from TSC2 heterozygous mutant cells shows increased permeability. This can be rescued by wild type astrocytes or by treatment with rapamycin, an mTOR kinase inhibitor. CONCLUSION: Our results demonstrate the utility of microphysiological systems to study human neurological disorders and advance our knowledge of cell lineages contributing to TSC pathogenesis and informs future therapeutics. En ligne : https://dx.doi.org/10.1186/s11689-024-09543-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575 [article] Rescue of impaired blood-brain barrier in tuberous sclerosis complex patient derived neurovascular unit [texte imprimé] / Jacquelyn A. BROWN, Auteur ; Shannon L. FALEY, Auteur ; Monika JUDGE, Auteur ; Patricia WARD, Auteur ; Rebecca A. IHRIE, Auteur ; Robert CARSON, Auteur ; Laura ARMSTRONG, Auteur ; Mustafa SAHIN, Auteur ; John P. WIKSWO, Auteur ; Kevin C. ESS, Auteur ; M. Diana NEELY, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 16 (2024) Mots-clés : Tuberous Sclerosis/physiopathology/genetics  Humans  Blood-Brain Barrier/physiopathology  Tuberous Sclerosis Complex 2 Protein/genetics  Induced Pluripotent Stem Cells  Sirolimus/pharmacology  Astrocytes/metabolism  Astrocytes  Bbb  Human stem cells  Microfluidics  Rapamycin  Tissue chips  mTOR  Bridgebio, and Aucta. He has served on Scientific Advisory Boards for Novartis,  Roche, Regenxbio, SpringWorks Therapeutics, Jaguar Therapeutics, and Alkermes. Index. décimale : PER Périodiques Résumé : BACKGROUND: Tuberous sclerosis complex (TSC) is a multi-system genetic disease that causes benign tumors in the brain and other vital organs. The most debilitating symptoms result from involvement of the central nervous system and lead to a multitude of severe symptoms including seizures, intellectual disability, autism, and behavioral problems. TSC is caused by heterozygous mutations of either the TSC1 or TSC2 gene and dysregulation of mTOR kinase with its multifaceted downstream signaling alterations is central to disease pathogenesis. Although the neurological sequelae of the disease are well established, little is known about how these mutations might affect cellular components and the function of the blood-brain barrier (BBB). METHODS: We generated TSC disease-specific cell models of the BBB by leveraging human induced pluripotent stem cell and microfluidic cell culture technologies. RESULTS: Using microphysiological systems, we demonstrate that a BBB generated from TSC2 heterozygous mutant cells shows increased permeability. This can be rescued by wild type astrocytes or by treatment with rapamycin, an mTOR kinase inhibitor. CONCLUSION: Our results demonstrate the utility of microphysiological systems to study human neurological disorders and advance our knowledge of cell lineages contributing to TSC pathogenesis and informs future therapeutics. En ligne : https://dx.doi.org/10.1186/s11689-024-09543-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575

Intrapartum exposure to synthetic oxytocin, maternal BMI, and neurodevelopmental outcomes in children within the ECHO consortium / Lisa KURTH in Journal of Neurodevelopmental Disorders, 16 (2024)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 16 (2024) Titre : Intrapartum exposure to synthetic oxytocin, maternal BMI, and neurodevelopmental outcomes in children within the ECHO consortium Type de document : texte imprimé Auteurs : Lisa KURTH, Auteur ; T. Michael O'SHEA, Auteur ; Irina BURD, Auteur ; Anne L. DUNLOP, Auteur ; Lisa CROEN, Auteur ; Greta WILKENING, Auteur ; Ting-Ju HSU, Auteur ; Stephan EHRHARDT, Auteur ; Arvind PALANISAMY, Auteur ; Monica MCGRATH, Auteur ; Marie L. CHURCHILL, Auteur ; Daniel WEINBERGER, Auteur ; Marco GRADOS, Auteur ; Dana DABELEA, Auteur Langues : Anglais (eng) Mots-clés : Humans  Female  Pregnancy  Oxytocin  Male  Attention Deficit Disorder with Hyperactivity/epidemiology/etiology  Child  Body Mass Index  Autism Spectrum Disorder/epidemiology/etiology  Prenatal Exposure Delayed Effects  Adult  Pregnancy in Obesity/epidemiology  Child, Preschool  Cohort Studies  Obesity/epidemiology  Adhd  Asd  Autism  Bmi  Neurodevelopment  Obesity  Synthetic oxytocin Index. décimale : PER Périodiques Résumé : BACKGROUND: Synthetic oxytocin (sOT) is frequently administered during parturition. Studies have raised concerns that fetal exposure to sOT may be associated with altered brain development and risk of neurodevelopmental disorders. In a large and diverse sample of children with data about intrapartum sOT exposure and subsequent diagnoses of two prevalent neurodevelopmental disorders, i.e., attention deficit hyperactivity disorder (ADHD) and autism spectrum disorder (ASD), we tested the following hypotheses: (1) Intrapartum sOT exposure is associated with increased odds of child ADHD or ASD; (2) associations differ across sex; (3) associations between intrapartum sOT exposure and ADHD or ASD are accentuated in offspring of mothers with pre-pregnancy obesity. METHODS: The study sample comprised 12,503 participants from 44 cohort sites included in the Environmental Influences on Child Health Outcomes (ECHO) consortium. Mixed-effects logistic regression analyses were used to estimate the association between intrapartum sOT exposure and offspring ADHD or ASD (in separate models). Maternal obesity (pre-pregnancy BMI ≥ 30 kg/m(2)) and child sex were evaluated for effect modification. RESULTS: Intrapartum sOT exposure was present in 48% of participants. sOT exposure was not associated with increased odds of ASD (adjusted odds ratio [aOR] 0.86; 95% confidence interval [CI], 0.71-1.03) or ADHD (aOR 0.89; 95% CI, 0.76-1.04). Associations did not differ by child sex. Among mothers with pre-pregnancy obesity, sOT exposure was associated with lower odds of offspring ADHD (aOR 0.72; 95% CI, 0.55-0.96). No association was found among mothers without obesity (aOR 0.97; 95% CI, 0.80-1.18). CONCLUSIONS: In a large, diverse sample, we found no evidence of an association between intrapartum exposure to sOT and odds of ADHD or ASD in either male or female offspring. Contrary to our hypothesis, among mothers with pre-pregnancy obesity, sOT exposure was associated with lower odds of child ADHD diagnosis. En ligne : https://dx.doi.org/10.1186/s11689-024-09540-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575 [article] Intrapartum exposure to synthetic oxytocin, maternal BMI, and neurodevelopmental outcomes in children within the ECHO consortium [texte imprimé] / Lisa KURTH, Auteur ; T. Michael O'SHEA, Auteur ; Irina BURD, Auteur ; Anne L. DUNLOP, Auteur ; Lisa CROEN, Auteur ; Greta WILKENING, Auteur ; Ting-Ju HSU, Auteur ; Stephan EHRHARDT, Auteur ; Arvind PALANISAMY, Auteur ; Monica MCGRATH, Auteur ; Marie L. CHURCHILL, Auteur ; Daniel WEINBERGER, Auteur ; Marco GRADOS, Auteur ; Dana DABELEA, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 16 (2024) Mots-clés : Humans  Female  Pregnancy  Oxytocin  Male  Attention Deficit Disorder with Hyperactivity/epidemiology/etiology  Child  Body Mass Index  Autism Spectrum Disorder/epidemiology/etiology  Prenatal Exposure Delayed Effects  Adult  Pregnancy in Obesity/epidemiology  Child, Preschool  Cohort Studies  Obesity/epidemiology  Adhd  Asd  Autism  Bmi  Neurodevelopment  Obesity  Synthetic oxytocin Index. décimale : PER Périodiques Résumé : BACKGROUND: Synthetic oxytocin (sOT) is frequently administered during parturition. Studies have raised concerns that fetal exposure to sOT may be associated with altered brain development and risk of neurodevelopmental disorders. In a large and diverse sample of children with data about intrapartum sOT exposure and subsequent diagnoses of two prevalent neurodevelopmental disorders, i.e., attention deficit hyperactivity disorder (ADHD) and autism spectrum disorder (ASD), we tested the following hypotheses: (1) Intrapartum sOT exposure is associated with increased odds of child ADHD or ASD; (2) associations differ across sex; (3) associations between intrapartum sOT exposure and ADHD or ASD are accentuated in offspring of mothers with pre-pregnancy obesity. METHODS: The study sample comprised 12,503 participants from 44 cohort sites included in the Environmental Influences on Child Health Outcomes (ECHO) consortium. Mixed-effects logistic regression analyses were used to estimate the association between intrapartum sOT exposure and offspring ADHD or ASD (in separate models). Maternal obesity (pre-pregnancy BMI ≥ 30 kg/m(2)) and child sex were evaluated for effect modification. RESULTS: Intrapartum sOT exposure was present in 48% of participants. sOT exposure was not associated with increased odds of ASD (adjusted odds ratio [aOR] 0.86; 95% confidence interval [CI], 0.71-1.03) or ADHD (aOR 0.89; 95% CI, 0.76-1.04). Associations did not differ by child sex. Among mothers with pre-pregnancy obesity, sOT exposure was associated with lower odds of offspring ADHD (aOR 0.72; 95% CI, 0.55-0.96). No association was found among mothers without obesity (aOR 0.97; 95% CI, 0.80-1.18). CONCLUSIONS: In a large, diverse sample, we found no evidence of an association between intrapartum exposure to sOT and odds of ADHD or ASD in either male or female offspring. Contrary to our hypothesis, among mothers with pre-pregnancy obesity, sOT exposure was associated with lower odds of child ADHD diagnosis. En ligne : https://dx.doi.org/10.1186/s11689-024-09540-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575

Probing a neural unreliability account of auditory sensory processing atypicalities in Rett Syndrome / Tufikameni BRIMA in Journal of Neurodevelopmental Disorders, 16 (2024)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 16 (2024) Titre : Probing a neural unreliability account of auditory sensory processing atypicalities in Rett Syndrome Type de document : texte imprimé Auteurs : Tufikameni BRIMA, Auteur ; Shlomit BEKER, Auteur ; Kevin D. PRINSLOO, Auteur ; John S. BUTLER, Auteur ; Aleksandra DJUKIC, Auteur ; Edward G. FREEDMAN, Auteur ; Sophie MOLHOLM, Auteur ; John J. FOXE, Auteur Langues : Anglais (eng) Mots-clés : Humans  Rett Syndrome/physiopathology/complications  Adolescent  Female  Evoked Potentials, Auditory/physiology  Child  Young Adult  Electroencephalography  Auditory Perception/physiology  Reproducibility of Results  Acoustic Stimulation  Male  Signal-To-Noise Ratio  Adult  Auditory Evoked Potential  AEP  Auditory discrimination  Denoising Source Separation (DSS)  Eeg  Event-related potential  ERP  Females  High-density electrical mapping  Inter-Trial Phase Coherence (ITPC)  Inter-trial variability (ITV)  Neurodevelopmental disorder  Rett Syndrome Severity Scale (RSSS)  Signal-noise ratio (SNR)  X-linked mutation  MECP2  to the results of this study. Index. décimale : PER Périodiques Résumé : BACKGROUND: In the search for objective tools to quantify neural function in Rett Syndrome (RTT), which are crucial in the evaluation of therapeutic efficacy in clinical trials, recordings of sensory-perceptual functioning using event-related potential (ERP) approaches have emerged as potentially powerful tools. Considerable work points to highly anomalous auditory evoked potentials (AEPs) in RTT. However, an assumption of the typical signal-averaging method used to derive these measures is "stationarity" of the underlying responses - i.e. neural responses to each input are highly stereotyped. An alternate possibility is that responses to repeated stimuli are highly variable in RTT. If so, this will significantly impact the validity of assumptions about underlying neural dysfunction, and likely lead to overestimation of underlying neuropathology. To assess this possibility, analyses at the single-trial level assessing signal-to-noise ratios (SNR), inter-trial variability (ITV) and inter-trial phase coherence (ITPC) are necessary. METHODS: AEPs were recorded to simple 100 Hz tones from 18 RTT and 27 age-matched controls (Ages: 6-22 years). We applied standard AEP averaging, as well as measures of neuronal reliability at the single-trial level (i.e. SNR, ITV, ITPC). To separate signal-carrying components from non-neural noise sources, we also applied a denoising source separation (DSS) algorithm and then repeated the reliability measures. RESULTS: Substantially increased ITV, lower SNRs, and reduced ITPC were observed in auditory responses of RTT participants, supporting a "neural unreliability" account. Application of the DSS technique made it clear that non-neural noise sources contribute to overestimation of the extent of processing deficits in RTT. Post-DSS, ITV measures were substantially reduced, so much so that pre-DSS ITV differences between RTT and TD populations were no longer detected. In the case of SNR and ITPC, DSS substantially improved these estimates in the RTT population, but robust differences between RTT and TD were still fully evident. CONCLUSIONS: To accurately represent the degree of neural dysfunction in RTT using the ERP technique, a consideration of response reliability at the single-trial level is highly advised. Non-neural sources of noise lead to overestimation of the degree of pathological processing in RTT, and denoising source separation techniques during signal processing substantially ameliorate this issue. En ligne : https://dx.doi.org/10.1186/s11689-024-09544-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575 [article] Probing a neural unreliability account of auditory sensory processing atypicalities in Rett Syndrome [texte imprimé] / Tufikameni BRIMA, Auteur ; Shlomit BEKER, Auteur ; Kevin D. PRINSLOO, Auteur ; John S. BUTLER, Auteur ; Aleksandra DJUKIC, Auteur ; Edward G. FREEDMAN, Auteur ; Sophie MOLHOLM, Auteur ; John J. FOXE, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 16 (2024) Mots-clés : Humans  Rett Syndrome/physiopathology/complications  Adolescent  Female  Evoked Potentials, Auditory/physiology  Child  Young Adult  Electroencephalography  Auditory Perception/physiology  Reproducibility of Results  Acoustic Stimulation  Male  Signal-To-Noise Ratio  Adult  Auditory Evoked Potential  AEP  Auditory discrimination  Denoising Source Separation (DSS)  Eeg  Event-related potential  ERP  Females  High-density electrical mapping  Inter-Trial Phase Coherence (ITPC)  Inter-trial variability (ITV)  Neurodevelopmental disorder  Rett Syndrome Severity Scale (RSSS)  Signal-noise ratio (SNR)  X-linked mutation  MECP2  to the results of this study. Index. décimale : PER Périodiques Résumé : BACKGROUND: In the search for objective tools to quantify neural function in Rett Syndrome (RTT), which are crucial in the evaluation of therapeutic efficacy in clinical trials, recordings of sensory-perceptual functioning using event-related potential (ERP) approaches have emerged as potentially powerful tools. Considerable work points to highly anomalous auditory evoked potentials (AEPs) in RTT. However, an assumption of the typical signal-averaging method used to derive these measures is "stationarity" of the underlying responses - i.e. neural responses to each input are highly stereotyped. An alternate possibility is that responses to repeated stimuli are highly variable in RTT. If so, this will significantly impact the validity of assumptions about underlying neural dysfunction, and likely lead to overestimation of underlying neuropathology. To assess this possibility, analyses at the single-trial level assessing signal-to-noise ratios (SNR), inter-trial variability (ITV) and inter-trial phase coherence (ITPC) are necessary. METHODS: AEPs were recorded to simple 100 Hz tones from 18 RTT and 27 age-matched controls (Ages: 6-22 years). We applied standard AEP averaging, as well as measures of neuronal reliability at the single-trial level (i.e. SNR, ITV, ITPC). To separate signal-carrying components from non-neural noise sources, we also applied a denoising source separation (DSS) algorithm and then repeated the reliability measures. RESULTS: Substantially increased ITV, lower SNRs, and reduced ITPC were observed in auditory responses of RTT participants, supporting a "neural unreliability" account. Application of the DSS technique made it clear that non-neural noise sources contribute to overestimation of the extent of processing deficits in RTT. Post-DSS, ITV measures were substantially reduced, so much so that pre-DSS ITV differences between RTT and TD populations were no longer detected. In the case of SNR and ITPC, DSS substantially improved these estimates in the RTT population, but robust differences between RTT and TD were still fully evident. CONCLUSIONS: To accurately represent the degree of neural dysfunction in RTT using the ERP technique, a consideration of response reliability at the single-trial level is highly advised. Non-neural sources of noise lead to overestimation of the degree of pathological processing in RTT, and denoising source separation techniques during signal processing substantially ameliorate this issue. En ligne : https://dx.doi.org/10.1186/s11689-024-09544-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575

Sleep disturbances are associated with greater healthcare utilization in children with autism spectrum disorder / Shirley SOLOMON in Journal of Neurodevelopmental Disorders, 16 (2024)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 16 (2024) Titre : Sleep disturbances are associated with greater healthcare utilization in children with autism spectrum disorder Type de document : texte imprimé Auteurs : Shirley SOLOMON, Auteur ; Leena ELBEDOUR, Auteur ; Gal MEIRI, Auteur ; Analya MICHAELOVSKI, Auteur ; Yair SADAKA, Auteur ; Michal ILAN, Auteur ; Michal FAROY, Auteur ; Ilan DINSTEIN, Auteur ; Idan MENASHE, Auteur Langues : Anglais (eng) Mots-clés : Humans  Autism Spectrum Disorder/complications/epidemiology/therapy  Male  Female  Sleep Wake Disorders/epidemiology/etiology/therapy  Child  Cross-Sectional Studies  Retrospective Studies  Patient Acceptance of Health Care/statistics & numerical data  Child, Preschool  Comorbidity  Adolescent  Hospitalization/statistics & numerical data  Autism  Autism spectrum disorder (ASD)  Co-occurring conditions  Healthcare utilization  Medication use  Melatonin  Sleep  Sleep disturbances Index. décimale : PER Périodiques Résumé : BACKGROUND: Sleep disturbances are frequently reported in children with autism spectrum disorder (ASD) and are associated with the severity of co-occurring symptoms. This study's aim was to examine the extent of healthcare utilization and clinical outcomes associated with sleep disturbances in children with ASD. STUDY DESIGN: A retrospective, cross-sectional study of 541 children with ASD from the Azrieli National Center for Autism and Neurodevelopment Research (ANCAN) whose parents completed the Children's Sleep Habits Questionnaire (CSHQ). Children with a total CSHQ score ≥ 48 were defined as having sleep disturbances. Sociodemographic characteristics, ASD diagnostic measures, chronic co-occurring conditions, medication usage, hospitalizations, visits to the emergency room (ER), and visits to specialists were compared in ASD children with and without sleep disturbances. Multivariate logistic regression models were then used to assess the independent association of sleep disturbances with clinical characteristics and healthcare utilization. RESULTS: Of the 541 children with ASD, 257 (47.5%) had sleep disturbances. Children with sleep disturbances exhibited higher rates of multiple (≥ 3) co-occurring conditions (19.1% vs. 12.7%; p = 0.0414) and prescribed medications (45.5% vs. 32.7%; p = 0.0031) than other children. Finally, ASD children with sleep disturbances were 1.72 and 2.71 times more likely to visit the ER and be hospitalized than their counterparts (aOR = 1.72; 99%CI = 1.01-2.95; and aOR = 2.71; 99%CI = 1.10-6.67, respectively). CONCLUSIONS: Our findings suggest that sleep disturbances are associated with greater healthcare utilization among children with ASD. Further studies could examine whether treating sleep disturbances in children with ASD yields additional clinical benefits beyond improvements in sleep. En ligne : https://dx.doi.org/10.1186/s11689-024-09550-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575 [article] Sleep disturbances are associated with greater healthcare utilization in children with autism spectrum disorder [texte imprimé] / Shirley SOLOMON, Auteur ; Leena ELBEDOUR, Auteur ; Gal MEIRI, Auteur ; Analya MICHAELOVSKI, Auteur ; Yair SADAKA, Auteur ; Michal ILAN, Auteur ; Michal FAROY, Auteur ; Ilan DINSTEIN, Auteur ; Idan MENASHE, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 16 (2024) Mots-clés : Humans  Autism Spectrum Disorder/complications/epidemiology/therapy  Male  Female  Sleep Wake Disorders/epidemiology/etiology/therapy  Child  Cross-Sectional Studies  Retrospective Studies  Patient Acceptance of Health Care/statistics & numerical data  Child, Preschool  Comorbidity  Adolescent  Hospitalization/statistics & numerical data  Autism  Autism spectrum disorder (ASD)  Co-occurring conditions  Healthcare utilization  Medication use  Melatonin  Sleep  Sleep disturbances Index. décimale : PER Périodiques Résumé : BACKGROUND: Sleep disturbances are frequently reported in children with autism spectrum disorder (ASD) and are associated with the severity of co-occurring symptoms. This study's aim was to examine the extent of healthcare utilization and clinical outcomes associated with sleep disturbances in children with ASD. STUDY DESIGN: A retrospective, cross-sectional study of 541 children with ASD from the Azrieli National Center for Autism and Neurodevelopment Research (ANCAN) whose parents completed the Children's Sleep Habits Questionnaire (CSHQ). Children with a total CSHQ score ≥ 48 were defined as having sleep disturbances. Sociodemographic characteristics, ASD diagnostic measures, chronic co-occurring conditions, medication usage, hospitalizations, visits to the emergency room (ER), and visits to specialists were compared in ASD children with and without sleep disturbances. Multivariate logistic regression models were then used to assess the independent association of sleep disturbances with clinical characteristics and healthcare utilization. RESULTS: Of the 541 children with ASD, 257 (47.5%) had sleep disturbances. Children with sleep disturbances exhibited higher rates of multiple (≥ 3) co-occurring conditions (19.1% vs. 12.7%; p = 0.0414) and prescribed medications (45.5% vs. 32.7%; p = 0.0031) than other children. Finally, ASD children with sleep disturbances were 1.72 and 2.71 times more likely to visit the ER and be hospitalized than their counterparts (aOR = 1.72; 99%CI = 1.01-2.95; and aOR = 2.71; 99%CI = 1.10-6.67, respectively). CONCLUSIONS: Our findings suggest that sleep disturbances are associated with greater healthcare utilization among children with ASD. Further studies could examine whether treating sleep disturbances in children with ASD yields additional clinical benefits beyond improvements in sleep. En ligne : https://dx.doi.org/10.1186/s11689-024-09550-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575

Developmental associations between cognition and adaptive behavior in intellectual and developmental disability / Andrew DAKOPOLOS in Journal of Neurodevelopmental Disorders, 16 (2024)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 16 (2024) Titre : Developmental associations between cognition and adaptive behavior in intellectual and developmental disability Type de document : texte imprimé Auteurs : Andrew DAKOPOLOS, Auteur ; Emma CONDY, Auteur ; Elizabeth SMITH, Auteur ; Danielle HARVEY, Auteur ; Aaron J. KAAT, Auteur ; Jeanine COLEMAN, Auteur ; Karen RILEY, Auteur ; Elizabeth BERRY-KRAVIS, Auteur ; David HESSL, Auteur Langues : Anglais (eng) Mots-clés : Humans  Male  Child  Adolescent  Female  Adaptation, Psychological/physiology  Young Adult  Adult  Intellectual Disability  Developmental Disabilities  Cognition/physiology  Longitudinal Studies  Activities of Daily Living  Socialization  Down Syndrome/physiopathology  Fragile X Syndrome/physiopathology  Adaptive behavior  Cognition  Down syndrome  Fragile X syndrome  Intellectual and developmental disability  Latent change  NIH Toolbox  Structural equation modeling  funding from the following, all of which are directed to Rush University Medical  Center in support of rare disease programs, and she receives no personal funds  and has no relevant financial interest in any of the commercial entities listed:  Acadia, Alcobra, Anavex, Biogen, BioMarin, Cydan, Fulcrum, GeneTx, GW, Ionis,  Lumos, Marinus, Neuren, Neurotrope, Novartis, Orphazyme, Ovid, Roche, Seaside  Therapeutics, Tetra, Ultragenyx, Yamo, and Zynerba to consult on trial design and  development strategies and/or to conduct clinical studies in FXS or other NNDs or  neurodegenerative disorders  Vtesse/Sucampo/Mallinckrodt Pharmaceuticals to  conduct clinical trials in Nieman Pick  and Asuragen Inc to develop testing  standards for FMR1 testing  D. Hessl has received funding from the following, all  of which are directed to the UC Davis, in support of fragile X treatment  programs, and he receives no personal funds and has no relevant financial  interest in any of the commercial entities listed: Autifony, Ovid,  Tetra/Shionogi, Healx, and Zynerba pharmaceutical companies to consult on outcome  measures and clinical trial design. D. Hessl and EBK are members of the Clinical  Trials Committee of the National Fragile X Foundation. Index. décimale : PER Périodiques Résumé : BACKGROUND: Intellectual and developmental disabilities (IDDs) are associated with both cognitive challenges and difficulties in conceptual, social, and practical areas of living, commonly referred to as adaptive behavior (DSM-5). Although cross-sectional associations between intelligence or cognition and adaptive behavior have been reported in IDD populations, no study to date has examined whether developmental changes in cognition contribute to or track with changes in adaptive behavior. The present study sought to examine associations of longitudinal developmental change in domains of cognition (NIH Toolbox Cognition Battery, NIHTB-CB) and adaptive behavior domains (Vineland Adaptive Behavior Scales-3; VABS-3) including Socialization, Communication, and Daily Living Skills (DLS) over a two year period in a large sample of children, adolescents and young adults with IDD. METHODS: Three groups were recruited, including those with fragile X syndrome, Down syndrome, and other/idiopathic intellectual disability. Eligible participants (n = 263) included those who were between 6 and 26 years (m(age) = 15.52, sd = 5.17) at Visit 1, and who had a diagnosis of, or suspected intellectual disability (ID), including borderline ID, with a mental age of at least 3.0 years. Participants were given cognitive and adaptive behavior assessments at two time points over a two year period (m = 2.45 years, range = 1.27 to 5.56 years). In order to examine the association of developmental change between cognitive and adaptive behavior domains, bivariate latent change score (BLCS) models were fit to compare change in the three cognitive domains measured by the NIHTB-CB (Fluid Cognition, Crystallized Cognition, Total Cognition) and the three adaptive behavior domains measured by the VABS-3 (Communication, DLS, and Socialization). RESULTS: Over a two year period, change in cognition (both Crystallized and Total Composites) was significantly and positively associated with change in daily living skills. Also, baseline cognition level predicted growth in adaptive behavior, however baseline adaptive behavior did not predict growth in cognition in any model. CONCLUSIONS: The present study demonstrated that developmental changes in cognition and adaptive behavior are associated in children and young adults with IDD, indicating the potential for cross-domain effects of intervention. Notably, improvements in DLS emerged as a primary area of adaptive behavior that positively related to improvements in cognition. This work provides evidence for the clinical, "real life" meaningfulness of changes in cognition detected by the NIHTB-CB in IDD, and provides empirical support for the NIHTB-CB as a fit-for-purpose performance-based outcome measure for this population. En ligne : https://dx.doi.org/10.1186/s11689-024-09542-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575 [article] Developmental associations between cognition and adaptive behavior in intellectual and developmental disability [texte imprimé] / Andrew DAKOPOLOS, Auteur ; Emma CONDY, Auteur ; Elizabeth SMITH, Auteur ; Danielle HARVEY, Auteur ; Aaron J. KAAT, Auteur ; Jeanine COLEMAN, Auteur ; Karen RILEY, Auteur ; Elizabeth BERRY-KRAVIS, Auteur ; David HESSL, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 16 (2024) Mots-clés : Humans  Male  Child  Adolescent  Female  Adaptation, Psychological/physiology  Young Adult  Adult  Intellectual Disability  Developmental Disabilities  Cognition/physiology  Longitudinal Studies  Activities of Daily Living  Socialization  Down Syndrome/physiopathology  Fragile X Syndrome/physiopathology  Adaptive behavior  Cognition  Down syndrome  Fragile X syndrome  Intellectual and developmental disability  Latent change  NIH Toolbox  Structural equation modeling  funding from the following, all of which are directed to Rush University Medical  Center in support of rare disease programs, and she receives no personal funds  and has no relevant financial interest in any of the commercial entities listed:  Acadia, Alcobra, Anavex, Biogen, BioMarin, Cydan, Fulcrum, GeneTx, GW, Ionis,  Lumos, Marinus, Neuren, Neurotrope, Novartis, Orphazyme, Ovid, Roche, Seaside  Therapeutics, Tetra, Ultragenyx, Yamo, and Zynerba to consult on trial design and  development strategies and/or to conduct clinical studies in FXS or other NNDs or  neurodegenerative disorders  Vtesse/Sucampo/Mallinckrodt Pharmaceuticals to  conduct clinical trials in Nieman Pick  and Asuragen Inc to develop testing  standards for FMR1 testing  D. Hessl has received funding from the following, all  of which are directed to the UC Davis, in support of fragile X treatment  programs, and he receives no personal funds and has no relevant financial  interest in any of the commercial entities listed: Autifony, Ovid,  Tetra/Shionogi, Healx, and Zynerba pharmaceutical companies to consult on outcome  measures and clinical trial design. D. Hessl and EBK are members of the Clinical  Trials Committee of the National Fragile X Foundation. Index. décimale : PER Périodiques Résumé : BACKGROUND: Intellectual and developmental disabilities (IDDs) are associated with both cognitive challenges and difficulties in conceptual, social, and practical areas of living, commonly referred to as adaptive behavior (DSM-5). Although cross-sectional associations between intelligence or cognition and adaptive behavior have been reported in IDD populations, no study to date has examined whether developmental changes in cognition contribute to or track with changes in adaptive behavior. The present study sought to examine associations of longitudinal developmental change in domains of cognition (NIH Toolbox Cognition Battery, NIHTB-CB) and adaptive behavior domains (Vineland Adaptive Behavior Scales-3; VABS-3) including Socialization, Communication, and Daily Living Skills (DLS) over a two year period in a large sample of children, adolescents and young adults with IDD. METHODS: Three groups were recruited, including those with fragile X syndrome, Down syndrome, and other/idiopathic intellectual disability. Eligible participants (n = 263) included those who were between 6 and 26 years (m(age) = 15.52, sd = 5.17) at Visit 1, and who had a diagnosis of, or suspected intellectual disability (ID), including borderline ID, with a mental age of at least 3.0 years. Participants were given cognitive and adaptive behavior assessments at two time points over a two year period (m = 2.45 years, range = 1.27 to 5.56 years). In order to examine the association of developmental change between cognitive and adaptive behavior domains, bivariate latent change score (BLCS) models were fit to compare change in the three cognitive domains measured by the NIHTB-CB (Fluid Cognition, Crystallized Cognition, Total Cognition) and the three adaptive behavior domains measured by the VABS-3 (Communication, DLS, and Socialization). RESULTS: Over a two year period, change in cognition (both Crystallized and Total Composites) was significantly and positively associated with change in daily living skills. Also, baseline cognition level predicted growth in adaptive behavior, however baseline adaptive behavior did not predict growth in cognition in any model. CONCLUSIONS: The present study demonstrated that developmental changes in cognition and adaptive behavior are associated in children and young adults with IDD, indicating the potential for cross-domain effects of intervention. Notably, improvements in DLS emerged as a primary area of adaptive behavior that positively related to improvements in cognition. This work provides evidence for the clinical, "real life" meaningfulness of changes in cognition detected by the NIHTB-CB in IDD, and provides empirical support for the NIHTB-CB as a fit-for-purpose performance-based outcome measure for this population. En ligne : https://dx.doi.org/10.1186/s11689-024-09542-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575

From wings to whiskers to stem cells: why every model matters in fragile X syndrome research / Soraya O. SANDOVAL in Journal of Neurodevelopmental Disorders, 16 (2024)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 16 (2024) Titre : From wings to whiskers to stem cells: why every model matters in fragile X syndrome research Type de document : texte imprimé Auteurs : Soraya O. SANDOVAL, Auteur ; Natasha M. MÉNDEZ-ALBELO, Auteur ; Zhiyan XU, Auteur ; Xinyu ZHAO, Auteur Langues : Anglais (eng) Mots-clés : Animals  Humans  Disease Models, Animal  Fragile X Mental Retardation Protein/genetics  Fragile X Syndrome/genetics/physiopathology  Pluripotent Stem Cells  Drosophila  Fmr1  Fmrp  Fragile X syndrome  Human  Mouse  Neuron  Organoid  Stem cells  iPSCs Index. décimale : PER Périodiques Résumé : Fragile X syndrome (FXS) is caused by epigenetic silencing of the X-linked fragile X messenger ribonucleoprotein 1 (FMR1) gene located on chromosome Xq27.3, which leads to the loss of its protein product, fragile X messenger ribonucleoprotein (FMRP). It is the most prevalent inherited form of intellectual disability and the highest single genetic cause of autism. Since the discovery of the genetic basis of FXS, extensive studies using animal models and human pluripotent stem cells have unveiled the functions of FMRP and mechanisms underlying FXS. However, clinical trials have not yielded successful treatment. Here we review what we have learned from commonly used models for FXS, potential limitations of these models, and recommendations for future steps. En ligne : https://dx.doi.org/10.1186/s11689-024-09545-w Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575 [article] From wings to whiskers to stem cells: why every model matters in fragile X syndrome research [texte imprimé] / Soraya O. SANDOVAL, Auteur ; Natasha M. MÉNDEZ-ALBELO, Auteur ; Zhiyan XU, Auteur ; Xinyu ZHAO, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 16 (2024) Mots-clés : Animals  Humans  Disease Models, Animal  Fragile X Mental Retardation Protein/genetics  Fragile X Syndrome/genetics/physiopathology  Pluripotent Stem Cells  Drosophila  Fmr1  Fmrp  Fragile X syndrome  Human  Mouse  Neuron  Organoid  Stem cells  iPSCs Index. décimale : PER Périodiques Résumé : Fragile X syndrome (FXS) is caused by epigenetic silencing of the X-linked fragile X messenger ribonucleoprotein 1 (FMR1) gene located on chromosome Xq27.3, which leads to the loss of its protein product, fragile X messenger ribonucleoprotein (FMRP). It is the most prevalent inherited form of intellectual disability and the highest single genetic cause of autism. Since the discovery of the genetic basis of FXS, extensive studies using animal models and human pluripotent stem cells have unveiled the functions of FMRP and mechanisms underlying FXS. However, clinical trials have not yielded successful treatment. Here we review what we have learned from commonly used models for FXS, potential limitations of these models, and recommendations for future steps. En ligne : https://dx.doi.org/10.1186/s11689-024-09545-w Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575

Developmental milestones and daily living skills in individuals with Angelman syndrome / Anjali SADHWANI in Journal of Neurodevelopmental Disorders, 16 (2024)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 16 (2024) Titre : Developmental milestones and daily living skills in individuals with Angelman syndrome Type de document : texte imprimé Auteurs : Anjali SADHWANI, Auteur ; Sonya POWERS, Auteur ; Anne WHEELER, Auteur ; Hillary MILLER, Auteur ; Sarah Nelson POTTER, Auteur ; Sarika U. PETERS, Auteur ; Carlos A. BACINO, Auteur ; Steven A. SKINNER, Auteur ; Logan K. WINK, Auteur ; Craig A. ERICKSON, Auteur ; Lynne M. BIRD, Auteur ; Wen-Hann TAN, Auteur Langues : Anglais (eng) Mots-clés : Humans  Angelman Syndrome/physiopathology/genetics/complications  Activities of Daily Living  Female  Child, Preschool  Male  Child  Adolescent  Infant  Child Development/physiology  Longitudinal Studies  Motor Skills/physiology  Developmental Disabilities/etiology  Adult  Young Adult  Activities of Daily Living  Child development  Developmental disabilities  Intellectual disability Index. décimale : PER Périodiques Résumé : BACKGROUND: Angelman syndrome (AS) is a neurodevelopmental disorder associated with severe global developmental delay. However, the ages at which different developmental skills are achieved in these individuals remain unclear. We seek to determine the probability and the age of acquisition of specific developmental milestones and daily living skills in individuals with AS across the different molecular subtypes, viz. class I deletion, class II deletion, uniparental disomy, imprinting defect, and UBE3A variants. METHODS: Caregivers participating in a longitudinal multicenter Angelman Syndrome Natural History Study completed a questionnaire regarding the age at which their children achieved specific developmental milestones and daily living skills. The Cox Proportional Hazard model was applied to analyze differences in the probability of achievement of skills at various ages among five molecular subtypes of AS. RESULTS: Almost all individuals, regardless of molecular subtype, were able to walk with support by five years of age. By age 15, those with a deletion had at least a 50% probability of acquiring 17 out of 30 skills compared to 25 out of 30 skills among those without a deletion. Overall, fine and gross motor skills such as holding and reaching for small objects, sitting, and walking with support were achieved within a fairly narrow range of ages, while toileting, feeding, and hygiene skills tend to have greater variability in the ages at which these skills were achieved. Those without a deletion had a higher probability (25-92%) of achieving daily living skills such as independently toileting and dressing compared to those with a deletion (0-13%). Across all molecular subtypes, there was a low probability of achieving independence in bathing and brushing teeth. CONCLUSION: Individuals with AS without a deletion are more likely to achieve developmental milestones and daily living skills at an earlier age than those with a deletion. Many individuals with AS are unable to achieve daily living skills necessary for independent self-care. En ligne : https://dx.doi.org/10.1186/s11689-024-09548-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575 [article] Developmental milestones and daily living skills in individuals with Angelman syndrome [texte imprimé] / Anjali SADHWANI, Auteur ; Sonya POWERS, Auteur ; Anne WHEELER, Auteur ; Hillary MILLER, Auteur ; Sarah Nelson POTTER, Auteur ; Sarika U. PETERS, Auteur ; Carlos A. BACINO, Auteur ; Steven A. SKINNER, Auteur ; Logan K. WINK, Auteur ; Craig A. ERICKSON, Auteur ; Lynne M. BIRD, Auteur ; Wen-Hann TAN, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 16 (2024) Mots-clés : Humans  Angelman Syndrome/physiopathology/genetics/complications  Activities of Daily Living  Female  Child, Preschool  Male  Child  Adolescent  Infant  Child Development/physiology  Longitudinal Studies  Motor Skills/physiology  Developmental Disabilities/etiology  Adult  Young Adult  Activities of Daily Living  Child development  Developmental disabilities  Intellectual disability Index. décimale : PER Périodiques Résumé : BACKGROUND: Angelman syndrome (AS) is a neurodevelopmental disorder associated with severe global developmental delay. However, the ages at which different developmental skills are achieved in these individuals remain unclear. We seek to determine the probability and the age of acquisition of specific developmental milestones and daily living skills in individuals with AS across the different molecular subtypes, viz. class I deletion, class II deletion, uniparental disomy, imprinting defect, and UBE3A variants. METHODS: Caregivers participating in a longitudinal multicenter Angelman Syndrome Natural History Study completed a questionnaire regarding the age at which their children achieved specific developmental milestones and daily living skills. The Cox Proportional Hazard model was applied to analyze differences in the probability of achievement of skills at various ages among five molecular subtypes of AS. RESULTS: Almost all individuals, regardless of molecular subtype, were able to walk with support by five years of age. By age 15, those with a deletion had at least a 50% probability of acquiring 17 out of 30 skills compared to 25 out of 30 skills among those without a deletion. Overall, fine and gross motor skills such as holding and reaching for small objects, sitting, and walking with support were achieved within a fairly narrow range of ages, while toileting, feeding, and hygiene skills tend to have greater variability in the ages at which these skills were achieved. Those without a deletion had a higher probability (25-92%) of achieving daily living skills such as independently toileting and dressing compared to those with a deletion (0-13%). Across all molecular subtypes, there was a low probability of achieving independence in bathing and brushing teeth. CONCLUSION: Individuals with AS without a deletion are more likely to achieve developmental milestones and daily living skills at an earlier age than those with a deletion. Many individuals with AS are unable to achieve daily living skills necessary for independent self-care. En ligne : https://dx.doi.org/10.1186/s11689-024-09548-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575

Volumetric brain reductions in adult patients with phenylketonuria and their relationship with blood phenylalanine levels / Jèssica PARDO in Journal of Neurodevelopmental Disorders, 16 (2024)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 16 (2024) Titre : Volumetric brain reductions in adult patients with phenylketonuria and their relationship with blood phenylalanine levels Type de document : texte imprimé Auteurs : Jèssica PARDO, Auteur ; Clara CAPDEVILA-LACASA, Auteur ; Bàrbara SEGURA, Auteur ; Adriana PANÉ, Auteur ; Cristina MONTSERRAT, Auteur ; Maria DE TALLÓ FORGA-VISA, Auteur ; Pedro J. MORENO, Auteur ; Glòria GARRABOU, Auteur ; Josep M. GRAU-JUNYENT, Auteur ; Carme JUNQUÉ, Auteur Langues : Anglais (eng) Mots-clés : Humans  Phenylketonurias/blood/pathology/diagnostic imaging  Phenylalanine/blood  Male  Female  Adult  Magnetic Resonance Imaging  Brain/diagnostic imaging/pathology  Young Adult  Neuropsychological Tests  Adult early-treated patients  Blood phenylalanine levels  Neuroimaging  Neuropsychological assessment  Phenylketonuria  Volumetry Index. décimale : PER Périodiques Résumé : BACKGROUND: Continued dietary treatment since early diagnosis through newborn screening programs usually prevents brain-related complications in phenylketonuria (PKU). However, subtle neurocognitive and brain alterations may be observed in some adult patients despite early treatment. Nevertheless, neuropsychological and neuroimaging studies in the field remain scarce. OBJECTIVES: This work aimed to determine possible neuropsychological and structural brain alterations in treated adult patients with PKU. METHODS: Thirty-five patients with PKU and 22 healthy controls (HC) underwent neuropsychological assessment and T1-weighted magnetic resonance imaging on a 3 T scanner. FreeSurfer (v.7.1) was used to obtain volumetric measures and SPSS (v27.0.1.0) was used to analyze sociodemographic, neuropsychological, volumetric, and clinical data (p < 0.05). RESULTS: Adult patients with PKU showed significantly lower performance than HC in Full Scale IQ (t = 2.67; p = .010) from the WAIS-IV. The PKU group also showed significantly lower volumes than HC in the pallidum (U = 224.000; p = .008), hippocampus (U = 243.000; p = .020), amygdala (U = 200.000; p = .002), and brainstem (t = 3.17; p = .006) as well as in total cerebral white matter volume (U = 175.000; p = .001). Blood phenylalanine (Phe) levels in PKU patients were negatively correlated with the pallidum (r = -0.417; p = .013) and brainstem (r = -0.455, p = .006) volumes. CONCLUSIONS: Adult patients with early-treated PKU showed significantly lower global intelligence than HC. Moreover, these patients showed reduced global white matter volume as well as reductions in the volume of several subcortical grey matter structures, which might be related to the existence of underlying neurodevelopmental alterations. Higher blood Phe levels were also negatively correlated with pallidum and brainstem, suggesting a higher vulnerability of these structures to Phe toxicity. En ligne : https://dx.doi.org/10.1186/s11689-024-09553-w Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575 [article] Volumetric brain reductions in adult patients with phenylketonuria and their relationship with blood phenylalanine levels [texte imprimé] / Jèssica PARDO, Auteur ; Clara CAPDEVILA-LACASA, Auteur ; Bàrbara SEGURA, Auteur ; Adriana PANÉ, Auteur ; Cristina MONTSERRAT, Auteur ; Maria DE TALLÓ FORGA-VISA, Auteur ; Pedro J. MORENO, Auteur ; Glòria GARRABOU, Auteur ; Josep M. GRAU-JUNYENT, Auteur ; Carme JUNQUÉ, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 16 (2024) Mots-clés : Humans  Phenylketonurias/blood/pathology/diagnostic imaging  Phenylalanine/blood  Male  Female  Adult  Magnetic Resonance Imaging  Brain/diagnostic imaging/pathology  Young Adult  Neuropsychological Tests  Adult early-treated patients  Blood phenylalanine levels  Neuroimaging  Neuropsychological assessment  Phenylketonuria  Volumetry Index. décimale : PER Périodiques Résumé : BACKGROUND: Continued dietary treatment since early diagnosis through newborn screening programs usually prevents brain-related complications in phenylketonuria (PKU). However, subtle neurocognitive and brain alterations may be observed in some adult patients despite early treatment. Nevertheless, neuropsychological and neuroimaging studies in the field remain scarce. OBJECTIVES: This work aimed to determine possible neuropsychological and structural brain alterations in treated adult patients with PKU. METHODS: Thirty-five patients with PKU and 22 healthy controls (HC) underwent neuropsychological assessment and T1-weighted magnetic resonance imaging on a 3 T scanner. FreeSurfer (v.7.1) was used to obtain volumetric measures and SPSS (v27.0.1.0) was used to analyze sociodemographic, neuropsychological, volumetric, and clinical data (p < 0.05). RESULTS: Adult patients with PKU showed significantly lower performance than HC in Full Scale IQ (t = 2.67; p = .010) from the WAIS-IV. The PKU group also showed significantly lower volumes than HC in the pallidum (U = 224.000; p = .008), hippocampus (U = 243.000; p = .020), amygdala (U = 200.000; p = .002), and brainstem (t = 3.17; p = .006) as well as in total cerebral white matter volume (U = 175.000; p = .001). Blood phenylalanine (Phe) levels in PKU patients were negatively correlated with the pallidum (r = -0.417; p = .013) and brainstem (r = -0.455, p = .006) volumes. CONCLUSIONS: Adult patients with early-treated PKU showed significantly lower global intelligence than HC. Moreover, these patients showed reduced global white matter volume as well as reductions in the volume of several subcortical grey matter structures, which might be related to the existence of underlying neurodevelopmental alterations. Higher blood Phe levels were also negatively correlated with pallidum and brainstem, suggesting a higher vulnerability of these structures to Phe toxicity. En ligne : https://dx.doi.org/10.1186/s11689-024-09553-w Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575

Does a high threshold of sensory responsiveness affect the development of pretend play in children on the autism spectrum? / Karolina KRZYSZTOFIK in Journal of Neurodevelopmental Disorders, 16 (2024)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 16 (2024) Titre : Does a high threshold of sensory responsiveness affect the development of pretend play in children on the autism spectrum? Type de document : texte imprimé Auteurs : Karolina KRZYSZTOFIK, Auteur Langues : Anglais (eng) Mots-clés : Humans  Autism Spectrum Disorder/physiopathology  Male  Female  Child, Preschool  Play and Playthings  Child  Child Development/physiology  Theory of Mind/physiology  Autism spectrum  Level of sensory responsiveness  Pretend play  relationships with other people or organizations within three years of beginning  the submitted work that could inappropriately influence, or be perceived to  influence, their work. The author declares that they have no competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Among the current avenues of research into the origins and development of the autism spectrum, those concerning atypical levels of sensory responsiveness are gaining increasing relevance. Researchers note the relationship of sensory responsiveness in children on the autism spectrum to their motor, cognitive and social development. Current research reports combines the responsiveness to sensory stimuli also with the development of pretend play. Aim of this study was to verify the relationship between the level of development of pretend play and the level of sensory responsiveness in children on the autism spectrum. METHODS: A study was conducted in a group of 63 children with a diagnosis of autism spectrum aged from 3 years and 7 months to 9 years and 3 months using: Pretend Play subscale from the Theory of Mind Mechanism Scale and Sensory Experiences Questionnaire version 2.1. RESULTS: The results revealed that elevated sensory hyporesponsiveness predicted low pretend play skills in the group of participating children. CONCLUSION: The study verified the contribution of the level of sensory hyporesponsiveness to explaining the atypical development of pretend play in children on the autism spectrum. En ligne : https://dx.doi.org/10.1186/s11689-024-09551-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575 [article] Does a high threshold of sensory responsiveness affect the development of pretend play in children on the autism spectrum? [texte imprimé] / Karolina KRZYSZTOFIK, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 16 (2024) Mots-clés : Humans  Autism Spectrum Disorder/physiopathology  Male  Female  Child, Preschool  Play and Playthings  Child  Child Development/physiology  Theory of Mind/physiology  Autism spectrum  Level of sensory responsiveness  Pretend play  relationships with other people or organizations within three years of beginning  the submitted work that could inappropriately influence, or be perceived to  influence, their work. The author declares that they have no competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Among the current avenues of research into the origins and development of the autism spectrum, those concerning atypical levels of sensory responsiveness are gaining increasing relevance. Researchers note the relationship of sensory responsiveness in children on the autism spectrum to their motor, cognitive and social development. Current research reports combines the responsiveness to sensory stimuli also with the development of pretend play. Aim of this study was to verify the relationship between the level of development of pretend play and the level of sensory responsiveness in children on the autism spectrum. METHODS: A study was conducted in a group of 63 children with a diagnosis of autism spectrum aged from 3 years and 7 months to 9 years and 3 months using: Pretend Play subscale from the Theory of Mind Mechanism Scale and Sensory Experiences Questionnaire version 2.1. RESULTS: The results revealed that elevated sensory hyporesponsiveness predicted low pretend play skills in the group of participating children. CONCLUSION: The study verified the contribution of the level of sensory hyporesponsiveness to explaining the atypical development of pretend play in children on the autism spectrum. En ligne : https://dx.doi.org/10.1186/s11689-024-09551-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575

Computer-vision analysis of craniofacial dysmorphology in 22q11.2 deletion syndrome and psychosis spectrum disorders / David R. ROALF in Journal of Neurodevelopmental Disorders, 16 (2024)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 16 (2024) Titre : Computer-vision analysis of craniofacial dysmorphology in 22q11.2 deletion syndrome and psychosis spectrum disorders Type de document : texte imprimé Auteurs : David R. ROALF, Auteur ; Donna M. MCDONALD-MCGINN, Auteur ; Joelle JEE, Auteur ; Mckenna KRALL, Auteur ; T Blaine CROWLEY, Auteur ; Paul J. MOBERG, Auteur ; Christian KOHLER, Auteur ; Monica E. CALKINS, Auteur ; Andrew J.D. CROW, Auteur ; Nicole FLEISCHER, Auteur ; R. Sean GALLAGHER, Auteur ; Virgilio GONZENBACH, Auteur ; Kelly CLARK, Auteur ; Ruben C. GUR, Auteur ; Emily MCCLELLAN, Auteur ; Daniel E. MCGINN, Auteur ; Arianna MORDY, Auteur ; Kosha RUPAREL, Auteur ; Bruce I. TURETSKY, Auteur ; Russell T. SHINOHARA, Auteur ; Lauren WHITE, Auteur ; Elaine ZACKAI, Auteur ; Raquel E. GUR, Auteur Langues : Anglais (eng) Mots-clés : Humans  DiGeorge Syndrome/genetics/physiopathology  Psychotic Disorders/genetics  Female  Male  Adolescent  Child  Craniofacial Abnormalities/genetics  Young Adult  Adult  Machine Learning  Image Processing, Computer-Assisted  22q11.2 deletion syndrome  Clinical high-risk psychosis  Computer-vision  Face  Minor physical anomalies  Psychosis  Schizophrenia  to provide F2G Gestalt data for facial photographs. She was not involved in  project design, implementation, or data analysis. She reviewed and edited the  final manuscript. No other authors have any competing interest to report. Index. décimale : PER Périodiques Résumé : BACKGROUND: Minor physical anomalies (MPAs) are congenital morphological abnormalities linked to disruptions of fetal development. MPAs are common in 22q11.2 deletion syndrome (22q11DS) and psychosis spectrum disorders (PS) and likely represent a disruption of early embryologic development that may help identify overlapping mechanisms linked to psychosis in these disorders. METHODS: Here, 2D digital photographs were collected from 22q11DS (n = 150), PS (n = 55), and typically developing (TD; n = 93) individuals. Photographs were analyzed using two computer-vision techniques: (1) DeepGestalt algorithm (Face2Gene (F2G)) technology to identify the presence of genetically mediated facial disorders, and (2) Emotrics-a semi-automated machine learning technique that localizes and measures facial features. RESULTS: F2G reliably identified patients with 22q11DS; faces of PS patients were matched to several genetic conditions including FragileX and 22q11DS. PCA-derived factor loadings of all F2G scores indicated unique and overlapping facial patterns that were related to both 22q11DS and PS. Regional facial measurements of the eyes and nose were smaller in 22q11DS as compared to TD, while PS showed intermediate measurements. CONCLUSIONS: The extent to which craniofacial dysmorphology 22q11DS and PS overlapping and evident before the impairment or distress of sub-psychotic symptoms may allow us to identify at-risk youths more reliably and at an earlier stage of development. En ligne : https://dx.doi.org/10.1186/s11689-024-09547-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575 [article] Computer-vision analysis of craniofacial dysmorphology in 22q11.2 deletion syndrome and psychosis spectrum disorders [texte imprimé] / David R. ROALF, Auteur ; Donna M. MCDONALD-MCGINN, Auteur ; Joelle JEE, Auteur ; Mckenna KRALL, Auteur ; T Blaine CROWLEY, Auteur ; Paul J. MOBERG, Auteur ; Christian KOHLER, Auteur ; Monica E. CALKINS, Auteur ; Andrew J.D. CROW, Auteur ; Nicole FLEISCHER, Auteur ; R. Sean GALLAGHER, Auteur ; Virgilio GONZENBACH, Auteur ; Kelly CLARK, Auteur ; Ruben C. GUR, Auteur ; Emily MCCLELLAN, Auteur ; Daniel E. MCGINN, Auteur ; Arianna MORDY, Auteur ; Kosha RUPAREL, Auteur ; Bruce I. TURETSKY, Auteur ; Russell T. SHINOHARA, Auteur ; Lauren WHITE, Auteur ; Elaine ZACKAI, Auteur ; Raquel E. GUR, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 16 (2024) Mots-clés : Humans  DiGeorge Syndrome/genetics/physiopathology  Psychotic Disorders/genetics  Female  Male  Adolescent  Child  Craniofacial Abnormalities/genetics  Young Adult  Adult  Machine Learning  Image Processing, Computer-Assisted  22q11.2 deletion syndrome  Clinical high-risk psychosis  Computer-vision  Face  Minor physical anomalies  Psychosis  Schizophrenia  to provide F2G Gestalt data for facial photographs. She was not involved in  project design, implementation, or data analysis. She reviewed and edited the  final manuscript. No other authors have any competing interest to report. Index. décimale : PER Périodiques Résumé : BACKGROUND: Minor physical anomalies (MPAs) are congenital morphological abnormalities linked to disruptions of fetal development. MPAs are common in 22q11.2 deletion syndrome (22q11DS) and psychosis spectrum disorders (PS) and likely represent a disruption of early embryologic development that may help identify overlapping mechanisms linked to psychosis in these disorders. METHODS: Here, 2D digital photographs were collected from 22q11DS (n = 150), PS (n = 55), and typically developing (TD; n = 93) individuals. Photographs were analyzed using two computer-vision techniques: (1) DeepGestalt algorithm (Face2Gene (F2G)) technology to identify the presence of genetically mediated facial disorders, and (2) Emotrics-a semi-automated machine learning technique that localizes and measures facial features. RESULTS: F2G reliably identified patients with 22q11DS; faces of PS patients were matched to several genetic conditions including FragileX and 22q11DS. PCA-derived factor loadings of all F2G scores indicated unique and overlapping facial patterns that were related to both 22q11DS and PS. Regional facial measurements of the eyes and nose were smaller in 22q11DS as compared to TD, while PS showed intermediate measurements. CONCLUSIONS: The extent to which craniofacial dysmorphology 22q11DS and PS overlapping and evident before the impairment or distress of sub-psychotic symptoms may allow us to identify at-risk youths more reliably and at an earlier stage of development. En ligne : https://dx.doi.org/10.1186/s11689-024-09547-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575

Developmental change of brain volume in Rett syndrome in Taiwan / Tz-Yun JAN in Journal of Neurodevelopmental Disorders, 16 (2024)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 16 (2024) Titre : Developmental change of brain volume in Rett syndrome in Taiwan Type de document : texte imprimé Auteurs : Tz-Yun JAN, Auteur ; Lee-Chin WONG, Auteur ; Chia-Jui HSU, Auteur ; Chien-Feng Judith HUANG, Auteur ; Steven Shinn-Forng PENG, Auteur ; Wen-Yih Isaac TSENG, Auteur ; Wang-Tso LEE, Auteur Langues : Anglais (eng) Mots-clés : Humans  Rett Syndrome/diagnostic imaging/physiopathology/pathology  Female  Magnetic Resonance Imaging  Brain/diagnostic imaging/pathology/growth & development  Adult  Child  Young Adult  Child, Preschool  Adolescent  Taiwan  Gray Matter/diagnostic imaging/pathology  Male  Organ Size  White Matter/diagnostic imaging/pathology  Brain volume  Developmental trajectories  Gray matter volume  Magnetic resonance image  Rett syndrome  Total intracranial volume  article. Index. décimale : PER Périodiques Résumé : OBJECTIVE: Rett syndrome (RTT) is characterized by neurological regression. This pioneering study investigated the effect of age on brain volume reduction by analyzing magnetic resonance imaging findings in participants with RTT, ranging from toddlers to adults. METHODS: Functional evaluation and neuroimaging were performed. All scans were acquired using a Siemens Tim Trio 3 T scanner with a 32-channel head coil. RESULTS: The total intracranial volume and cerebral white matter volume significantly increased with age in the control group compared with that in the RTT group (p < 0.05). Cortical gray matter volume reduction in the RTT group continued to increase in bilateral parietal lobes and left occipital lobes (p < 0.05). The differences in cortical gray matter volume between typically developing brain and RTT-affected brain may tend to continuously increase until adulthood in both temporal lobes although not significant after correction for multiple comparison. CONCLUSIONS: A significant reduction in brain volume was observed in the RTT group. Cortical gray matter volume in the RTT group continued to reduce in bilateral parietal lobes and left occipital lobes. These results provide a baseline for future studies on the effect of RTT treatment and related neuroscience research. En ligne : https://dx.doi.org/10.1186/s11689-024-09549-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575 [article] Developmental change of brain volume in Rett syndrome in Taiwan [texte imprimé] / Tz-Yun JAN, Auteur ; Lee-Chin WONG, Auteur ; Chia-Jui HSU, Auteur ; Chien-Feng Judith HUANG, Auteur ; Steven Shinn-Forng PENG, Auteur ; Wen-Yih Isaac TSENG, Auteur ; Wang-Tso LEE, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 16 (2024) Mots-clés : Humans  Rett Syndrome/diagnostic imaging/physiopathology/pathology  Female  Magnetic Resonance Imaging  Brain/diagnostic imaging/pathology/growth & development  Adult  Child  Young Adult  Child, Preschool  Adolescent  Taiwan  Gray Matter/diagnostic imaging/pathology  Male  Organ Size  White Matter/diagnostic imaging/pathology  Brain volume  Developmental trajectories  Gray matter volume  Magnetic resonance image  Rett syndrome  Total intracranial volume  article. Index. décimale : PER Périodiques Résumé : OBJECTIVE: Rett syndrome (RTT) is characterized by neurological regression. This pioneering study investigated the effect of age on brain volume reduction by analyzing magnetic resonance imaging findings in participants with RTT, ranging from toddlers to adults. METHODS: Functional evaluation and neuroimaging were performed. All scans were acquired using a Siemens Tim Trio 3 T scanner with a 32-channel head coil. RESULTS: The total intracranial volume and cerebral white matter volume significantly increased with age in the control group compared with that in the RTT group (p < 0.05). Cortical gray matter volume reduction in the RTT group continued to increase in bilateral parietal lobes and left occipital lobes (p < 0.05). The differences in cortical gray matter volume between typically developing brain and RTT-affected brain may tend to continuously increase until adulthood in both temporal lobes although not significant after correction for multiple comparison. CONCLUSIONS: A significant reduction in brain volume was observed in the RTT group. Cortical gray matter volume in the RTT group continued to reduce in bilateral parietal lobes and left occipital lobes. These results provide a baseline for future studies on the effect of RTT treatment and related neuroscience research. En ligne : https://dx.doi.org/10.1186/s11689-024-09549-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575

An integrated clinical approach to children at genetic risk for neurodevelopmental and psychiatric conditions: interdisciplinary collaboration and research infrastructure / Jane SUMMERS in Journal of Neurodevelopmental Disorders, 16 (2024)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 16 (2024) Titre : An integrated clinical approach to children at genetic risk for neurodevelopmental and psychiatric conditions: interdisciplinary collaboration and research infrastructure Type de document : texte imprimé Auteurs : Jane SUMMERS, Auteur ; Danielle BARIBEAU, Auteur ; Polina PERLMAN, Auteur ; Ny HOANG, Auteur ; Sunny CUI, Auteur ; Aneta KRAKOWSKI, Auteur ; Patricia AMBROZEWICZ, Auteur ; Ariel HO, Auteur ; Thanuja SELVANAYAGAM, Auteur ; Kinga A. SÁNDOR-BAJUSZ, Auteur ; Katrina PALAD, Auteur ; Nishi PATEL, Auteur ; Sarah MCGAUGHEY, Auteur ; Louise GALLAGHER, Auteur ; Stephen W. SCHERER, Auteur ; Peter SZATMARI, Auteur ; Jacob VORSTMAN, Auteur Langues : Anglais (eng) Mots-clés : Humans  Child  Neurodevelopmental Disorders/genetics  Female  Male  Mental Disorders/genetics  Genetic Predisposition to Disease  Adolescent  Genetic disorder  Genetics  Interdisciplinary clinic  Mental health  Neurodevelopmental disorder  Psychiatry  Psychology  Research framework  speaker fees for Henry Stewart Talks Ltd. S.W.S. is on the Scientific Advisory  Committee of Population Bio, Deep Genomics, and serves as a Highly Cited Academic  Advisor for King Abdulaziz University. Intellectual property from aspects of his  research held at The Hospital for Sick Children are licensed to Athena  Diagnostics and Population Bio. D.B. has received research funding from MapLight  therapeutics. These relationships did not influence content of this manuscript  but are disclosed for potential future considerations. Index. décimale : PER Périodiques Résumé : BACKGROUND: A sizeable proportion of pathogenic genetic variants identified in young children tested for congenital differences are associated with neurodevelopmental psychiatric disorders (NPD). In this growing group, a genetic diagnosis often precedes the emergence of diagnosable developmental concerns. Here, we describe DAGSY (Developmental Assessment of Genetically Susceptible Youth), a novel interdisciplinary 'genetic-diagnosis-first' clinic integrating psychiatric, psychological and genetic expertise, and report our first observations and feedback from families and referring clinicians. METHODS: We retrieved data on referral sources and indications, genetic and NPD diagnoses and recommendations for children seen at DAGSY between 2018 and 2022. Through a survey, we obtained feedback from twenty families and eleven referring clinicians. RESULTS: 159 children (mean age 10.2 years, 57.2% males) completed an interdisciplinary (psychiatry, psychology, genetic counselling) DAGSY assessment during this period. Of these, 69.8% had a pathogenic microdeletion or microduplication, 21.5% a sequence-level variant, 4.4% a chromosomal disorder, and 4.4% a variant of unknown significance with emerging evidence of pathogenicity. One in four children did not have a prior NPD diagnosis, and referral to DAGSY was motivated by their genetic vulnerability alone. Following assessment, 76.7% received at least one new NPD diagnosis, most frequently intellectual disability (24.5%), anxiety (20.7%), autism spectrum (18.9%) and specific learning (16.4%) disorder. Both families and clinicians responding to our survey expressed satisfaction, but also highlighted some areas for potential improvement. CONCLUSIONS: DAGSY addresses an unmet clinical need for children identified with genetic variants that confer increased vulnerability for NPD and provides a crucial platform for research in this area. DAGSY can serve as a model for interdisciplinary clinics integrating child psychiatry, psychology and genetics, addressing both clinical and research needs for this emerging population. En ligne : https://dx.doi.org/10.1186/s11689-024-09552-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575 [article] An integrated clinical approach to children at genetic risk for neurodevelopmental and psychiatric conditions: interdisciplinary collaboration and research infrastructure [texte imprimé] / Jane SUMMERS, Auteur ; Danielle BARIBEAU, Auteur ; Polina PERLMAN, Auteur ; Ny HOANG, Auteur ; Sunny CUI, Auteur ; Aneta KRAKOWSKI, Auteur ; Patricia AMBROZEWICZ, Auteur ; Ariel HO, Auteur ; Thanuja SELVANAYAGAM, Auteur ; Kinga A. SÁNDOR-BAJUSZ, Auteur ; Katrina PALAD, Auteur ; Nishi PATEL, Auteur ; Sarah MCGAUGHEY, Auteur ; Louise GALLAGHER, Auteur ; Stephen W. SCHERER, Auteur ; Peter SZATMARI, Auteur ; Jacob VORSTMAN, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 16 (2024) Mots-clés : Humans  Child  Neurodevelopmental Disorders/genetics  Female  Male  Mental Disorders/genetics  Genetic Predisposition to Disease  Adolescent  Genetic disorder  Genetics  Interdisciplinary clinic  Mental health  Neurodevelopmental disorder  Psychiatry  Psychology  Research framework  speaker fees for Henry Stewart Talks Ltd. S.W.S. is on the Scientific Advisory  Committee of Population Bio, Deep Genomics, and serves as a Highly Cited Academic  Advisor for King Abdulaziz University. Intellectual property from aspects of his  research held at The Hospital for Sick Children are licensed to Athena  Diagnostics and Population Bio. D.B. has received research funding from MapLight  therapeutics. These relationships did not influence content of this manuscript  but are disclosed for potential future considerations. Index. décimale : PER Périodiques Résumé : BACKGROUND: A sizeable proportion of pathogenic genetic variants identified in young children tested for congenital differences are associated with neurodevelopmental psychiatric disorders (NPD). In this growing group, a genetic diagnosis often precedes the emergence of diagnosable developmental concerns. Here, we describe DAGSY (Developmental Assessment of Genetically Susceptible Youth), a novel interdisciplinary 'genetic-diagnosis-first' clinic integrating psychiatric, psychological and genetic expertise, and report our first observations and feedback from families and referring clinicians. METHODS: We retrieved data on referral sources and indications, genetic and NPD diagnoses and recommendations for children seen at DAGSY between 2018 and 2022. Through a survey, we obtained feedback from twenty families and eleven referring clinicians. RESULTS: 159 children (mean age 10.2 years, 57.2% males) completed an interdisciplinary (psychiatry, psychology, genetic counselling) DAGSY assessment during this period. Of these, 69.8% had a pathogenic microdeletion or microduplication, 21.5% a sequence-level variant, 4.4% a chromosomal disorder, and 4.4% a variant of unknown significance with emerging evidence of pathogenicity. One in four children did not have a prior NPD diagnosis, and referral to DAGSY was motivated by their genetic vulnerability alone. Following assessment, 76.7% received at least one new NPD diagnosis, most frequently intellectual disability (24.5%), anxiety (20.7%), autism spectrum (18.9%) and specific learning (16.4%) disorder. Both families and clinicians responding to our survey expressed satisfaction, but also highlighted some areas for potential improvement. CONCLUSIONS: DAGSY addresses an unmet clinical need for children identified with genetic variants that confer increased vulnerability for NPD and provides a crucial platform for research in this area. DAGSY can serve as a model for interdisciplinary clinics integrating child psychiatry, psychology and genetics, addressing both clinical and research needs for this emerging population. En ligne : https://dx.doi.org/10.1186/s11689-024-09552-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575

The developmental phenotype of motor delay in extremely preterm infants following early-life respiratory adversity is influenced by brain dysmaturation in the parietal lobe / Wen-Hao YU in Journal of Neurodevelopmental Disorders, 16 (2024)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 16 (2024) Titre : The developmental phenotype of motor delay in extremely preterm infants following early-life respiratory adversity is influenced by brain dysmaturation in the parietal lobe Type de document : texte imprimé Auteurs : Wen-Hao YU, Auteur ; Chi-Hsiang CHU, Auteur ; Li-Wen CHEN, Auteur ; Yung-Chieh LIN, Auteur ; Chia-Lin KOH, Auteur ; Chao-Ching HUANG, Auteur Langues : Anglais (eng) Mots-clés : Humans  Infant, Extremely Premature/physiology  Female  Male  Infant, Newborn  Infant  Parietal Lobe/diagnostic imaging/growth & development/physiopathology  Magnetic Resonance Imaging  Phenotype  Respiration, Artificial  Developmental Disabilities/etiology/diagnostic imaging/physiopathology  Child Development/physiology  Altered brain growth  Mediation analysis  Neurodevelopment  Respiratory support Index. décimale : PER Périodiques Résumé : BACKGROUND: Research indicates that preterm infants requiring prolonged mechanical ventilation often exhibit suboptimal neurodevelopment at follow-up, coupled with altered brain development as detected by magnetic resonance imaging (MRI) at term-equivalent age (TEA). However, specific regions of brain dysmaturation and the subsequent neurodevelopmental phenotype following early-life adverse respiratory exposures remain unclear. Additionally, it is uncertain whether brain dysmaturation mediates neurodevelopmental outcomes after respiratory adversity. This study aims to investigate the relationship between early-life adverse respiratory exposures, brain dysmaturation at TEA, and the developmental phenotype observed during follow-up in extremely preterm infants. METHODS: 89 infants born < 29 weeks' gestation from 2019 to 2021 received MRI examinations at TEA for structural and lobe brain volumes, which were adjusted with sex-and-postmenstrual-age expected volumes for volume residuals. Assisted ventilation patterns in the first 8 postnatal weeks were analyzed using kmlShape analyses. Patterns for motor, cognition, and language development were evaluated from corrected age 6 to 12 months using Bayley Scales of Infant Development, third edition. Mediation effects of brain volumes between early-life respiratory exposures and neurodevelopmental phenotypes were adjusted for sex, gestational age, maternal education, and severe brain injury. RESULTS: Two distinct respiratory trajectories with varying severity were identified: improving (n = 35, 39%) and delayed improvement (n = 54, 61%). Compared with the improving group, the delayed improvement group exhibited selectively reduced brain volume residuals in the parietal lobe (mean - 4.9 cm(3), 95% confidence interval - 9.4 to - 0.3) at TEA and lower motor composite scores (- 8.7, - 14.2 to - 3.1) at corrected age 12 months. The association between delayed respiratory improvement and inferior motor performance (total effect - 8.7, - 14.8 to - 3.3) was partially mediated through reduced parietal lobe volume (natural indirect effect - 1.8, - 4.9 to - 0.01), suggesting a mediating effect of 20%. CONCLUSIONS: Early-life adverse respiratory exposure is specifically linked to the parietal lobe dysmaturation and neurodevelopmental phenotype of motor delay at follow-up. Dysmaturation of the parietal lobe serves as a mediator in the connection between respiratory adversity and compromised motor development. Optimizing respiratory critical care may emerge as a potential avenue to mitigate the consequences of altered brain growth and motor developmental delay in this extremely preterm population. En ligne : https://dx.doi.org/10.1186/s11689-024-09546-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575 [article] The developmental phenotype of motor delay in extremely preterm infants following early-life respiratory adversity is influenced by brain dysmaturation in the parietal lobe [texte imprimé] / Wen-Hao YU, Auteur ; Chi-Hsiang CHU, Auteur ; Li-Wen CHEN, Auteur ; Yung-Chieh LIN, Auteur ; Chia-Lin KOH, Auteur ; Chao-Ching HUANG, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 16 (2024) Mots-clés : Humans  Infant, Extremely Premature/physiology  Female  Male  Infant, Newborn  Infant  Parietal Lobe/diagnostic imaging/growth & development/physiopathology  Magnetic Resonance Imaging  Phenotype  Respiration, Artificial  Developmental Disabilities/etiology/diagnostic imaging/physiopathology  Child Development/physiology  Altered brain growth  Mediation analysis  Neurodevelopment  Respiratory support Index. décimale : PER Périodiques Résumé : BACKGROUND: Research indicates that preterm infants requiring prolonged mechanical ventilation often exhibit suboptimal neurodevelopment at follow-up, coupled with altered brain development as detected by magnetic resonance imaging (MRI) at term-equivalent age (TEA). However, specific regions of brain dysmaturation and the subsequent neurodevelopmental phenotype following early-life adverse respiratory exposures remain unclear. Additionally, it is uncertain whether brain dysmaturation mediates neurodevelopmental outcomes after respiratory adversity. This study aims to investigate the relationship between early-life adverse respiratory exposures, brain dysmaturation at TEA, and the developmental phenotype observed during follow-up in extremely preterm infants. METHODS: 89 infants born < 29 weeks' gestation from 2019 to 2021 received MRI examinations at TEA for structural and lobe brain volumes, which were adjusted with sex-and-postmenstrual-age expected volumes for volume residuals. Assisted ventilation patterns in the first 8 postnatal weeks were analyzed using kmlShape analyses. Patterns for motor, cognition, and language development were evaluated from corrected age 6 to 12 months using Bayley Scales of Infant Development, third edition. Mediation effects of brain volumes between early-life respiratory exposures and neurodevelopmental phenotypes were adjusted for sex, gestational age, maternal education, and severe brain injury. RESULTS: Two distinct respiratory trajectories with varying severity were identified: improving (n = 35, 39%) and delayed improvement (n = 54, 61%). Compared with the improving group, the delayed improvement group exhibited selectively reduced brain volume residuals in the parietal lobe (mean - 4.9 cm(3), 95% confidence interval - 9.4 to - 0.3) at TEA and lower motor composite scores (- 8.7, - 14.2 to - 3.1) at corrected age 12 months. The association between delayed respiratory improvement and inferior motor performance (total effect - 8.7, - 14.8 to - 3.3) was partially mediated through reduced parietal lobe volume (natural indirect effect - 1.8, - 4.9 to - 0.01), suggesting a mediating effect of 20%. CONCLUSIONS: Early-life adverse respiratory exposure is specifically linked to the parietal lobe dysmaturation and neurodevelopmental phenotype of motor delay at follow-up. Dysmaturation of the parietal lobe serves as a mediator in the connection between respiratory adversity and compromised motor development. Optimizing respiratory critical care may emerge as a potential avenue to mitigate the consequences of altered brain growth and motor developmental delay in this extremely preterm population. En ligne : https://dx.doi.org/10.1186/s11689-024-09546-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575

Sleep EEG signatures in mouse models of 15q11.2-13.1 duplication (Dup15q) syndrome / Vidya SARAVANAPANDIAN in Journal of Neurodevelopmental Disorders, 16 (2024)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 16 (2024) Titre : Sleep EEG signatures in mouse models of 15q11.2-13.1 duplication (Dup15q) syndrome Type de document : texte imprimé Auteurs : Vidya SARAVANAPANDIAN, Auteur ; Melika MADANI, Auteur ; India NICHOLS, Auteur ; Scott VINCENT, Auteur ; Mary DOVER, Auteur ; Dante DIKEMAN, Auteur ; Benjamin D. PHILPOT, Auteur ; Toru TAKUMI, Auteur ; Christopher S. COLWELL, Auteur ; Shafali JESTE, Auteur ; Ketema N. PAUL, Auteur ; Peyman GOLSHANI, Auteur Langues : Anglais (eng) Mots-clés : Animals  Mice  Chromosomes, Human, Pair 15/genetics  Electroencephalography  Disease Models, Animal  Male  Female  Sleep Wake Disorders/genetics/physiopathology  Sleep/physiology/genetics  Trisomy/physiopathology/genetics  Chromosome Aberrations  Intellectual Disability  Autism  Biomarkers  Dup15q syndrome  Eeg  Gaba  Neurodevelopmental disorders  Sleep  Ube3a Index. décimale : PER Périodiques Résumé : BACKGROUND: Sleep disturbances are a prevalent and complex comorbidity in neurodevelopmental disorders (NDDs). Dup15q syndrome (duplications of 15q11.2-13.1) is a genetic disorder highly penetrant for NDDs such as autism and intellectual disability and it is frequently accompanied by significant disruptions in sleep patterns. The 15q critical region harbors genes crucial for brain development, notably UBE3A and a cluster of gamma-aminobutyric acid type A receptor (GABA(A)R) genes. We previously described an electrophysiological biomarker of the syndrome, marked by heightened beta oscillations (12-30 Hz) in individuals with Dup15q syndrome, akin to electroencephalogram (EEG) alterations induced by allosteric modulation of GABA(A)Rs. Those with Dup15q syndrome exhibited increased beta oscillations during the awake resting state and during sleep, and they showed profoundly abnormal NREM sleep. This study aims to assess the translational validity of these EEG signatures and to delve into their neurobiological underpinnings by quantifying sleep physiology in chromosome-engineered mice with maternal (matDp/ + mice) or paternal (patDp/ + mice) inheritance of the full 15q11.2-13.1-equivalent duplication, and mice with duplication of just the UBE3A gene (Ube3a overexpression mice; Ube3a OE mice) and comparing the sleep metrics with their respective wildtype (WT) littermate controls. METHODS: We collected 48-h EEG/EMG recordings from 35 (23 male, 12 female) 12-24-week-old matDp/ + , patDp/ + , Ube3a OE mice, and their WT littermate controls. We quantified baseline sleep, sleep fragmentation, spectral power dynamics during sleep states, and recovery following sleep deprivation. Within each group, distinctions between Dup15q mutant mice and WT littermate controls were evaluated using analysis of variance (ANOVA) and student's t-test. The impact of genotype and time was discerned through repeated measures ANOVA, and significance was established at p < 0.05. RESULTS: Our study revealed that across brain states, matDp/ + mice mirrored the elevated beta oscillation phenotype observed in clinical EEGs from individuals with Dup15q syndrome. Time to sleep onset after light onset was significantly reduced in matDp/ + and Ube3a OE mice. However, NREM sleep between Dup15q mutant and WT littermate mice remained unaltered, suggesting a divergence from the clinical presentation in humans. Additionally, while increased beta oscillations persisted in matDp/ + mice after 6-h of sleep deprivation, recovery NREM sleep remained unaltered in all groups, thus suggesting that these mice exhibit resilience in the fundamental processes governing sleep-wake regulation. CONCLUSIONS: Quantification of mechanistic and translatable EEG biomarkers is essential for advancing our understanding of NDDs and their underlying pathophysiology. Our study of sleep physiology in the Dup15q mice underscores that the beta EEG biomarker has strong translational validity, thus opening the door for pre-clinical studies of putative drug targets, using the biomarker as a translational measure of drug-target engagement. The unaltered NREM sleep may be due to inherent differences in neurobiology between mice and humans. These nuanced distinctions highlight the complexity of sleep disruptions in Dup15q syndrome and emphasize the need for a comprehensive understanding that encompasses both shared and distinct features between murine models and clinical populations. En ligne : https://dx.doi.org/10.1186/s11689-024-09556-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575 [article] Sleep EEG signatures in mouse models of 15q11.2-13.1 duplication (Dup15q) syndrome [texte imprimé] / Vidya SARAVANAPANDIAN, Auteur ; Melika MADANI, Auteur ; India NICHOLS, Auteur ; Scott VINCENT, Auteur ; Mary DOVER, Auteur ; Dante DIKEMAN, Auteur ; Benjamin D. PHILPOT, Auteur ; Toru TAKUMI, Auteur ; Christopher S. COLWELL, Auteur ; Shafali JESTE, Auteur ; Ketema N. PAUL, Auteur ; Peyman GOLSHANI, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 16 (2024) Mots-clés : Animals  Mice  Chromosomes, Human, Pair 15/genetics  Electroencephalography  Disease Models, Animal  Male  Female  Sleep Wake Disorders/genetics/physiopathology  Sleep/physiology/genetics  Trisomy/physiopathology/genetics  Chromosome Aberrations  Intellectual Disability  Autism  Biomarkers  Dup15q syndrome  Eeg  Gaba  Neurodevelopmental disorders  Sleep  Ube3a Index. décimale : PER Périodiques Résumé : BACKGROUND: Sleep disturbances are a prevalent and complex comorbidity in neurodevelopmental disorders (NDDs). Dup15q syndrome (duplications of 15q11.2-13.1) is a genetic disorder highly penetrant for NDDs such as autism and intellectual disability and it is frequently accompanied by significant disruptions in sleep patterns. The 15q critical region harbors genes crucial for brain development, notably UBE3A and a cluster of gamma-aminobutyric acid type A receptor (GABA(A)R) genes. We previously described an electrophysiological biomarker of the syndrome, marked by heightened beta oscillations (12-30 Hz) in individuals with Dup15q syndrome, akin to electroencephalogram (EEG) alterations induced by allosteric modulation of GABA(A)Rs. Those with Dup15q syndrome exhibited increased beta oscillations during the awake resting state and during sleep, and they showed profoundly abnormal NREM sleep. This study aims to assess the translational validity of these EEG signatures and to delve into their neurobiological underpinnings by quantifying sleep physiology in chromosome-engineered mice with maternal (matDp/ + mice) or paternal (patDp/ + mice) inheritance of the full 15q11.2-13.1-equivalent duplication, and mice with duplication of just the UBE3A gene (Ube3a overexpression mice; Ube3a OE mice) and comparing the sleep metrics with their respective wildtype (WT) littermate controls. METHODS: We collected 48-h EEG/EMG recordings from 35 (23 male, 12 female) 12-24-week-old matDp/ + , patDp/ + , Ube3a OE mice, and their WT littermate controls. We quantified baseline sleep, sleep fragmentation, spectral power dynamics during sleep states, and recovery following sleep deprivation. Within each group, distinctions between Dup15q mutant mice and WT littermate controls were evaluated using analysis of variance (ANOVA) and student's t-test. The impact of genotype and time was discerned through repeated measures ANOVA, and significance was established at p < 0.05. RESULTS: Our study revealed that across brain states, matDp/ + mice mirrored the elevated beta oscillation phenotype observed in clinical EEGs from individuals with Dup15q syndrome. Time to sleep onset after light onset was significantly reduced in matDp/ + and Ube3a OE mice. However, NREM sleep between Dup15q mutant and WT littermate mice remained unaltered, suggesting a divergence from the clinical presentation in humans. Additionally, while increased beta oscillations persisted in matDp/ + mice after 6-h of sleep deprivation, recovery NREM sleep remained unaltered in all groups, thus suggesting that these mice exhibit resilience in the fundamental processes governing sleep-wake regulation. CONCLUSIONS: Quantification of mechanistic and translatable EEG biomarkers is essential for advancing our understanding of NDDs and their underlying pathophysiology. Our study of sleep physiology in the Dup15q mice underscores that the beta EEG biomarker has strong translational validity, thus opening the door for pre-clinical studies of putative drug targets, using the biomarker as a translational measure of drug-target engagement. The unaltered NREM sleep may be due to inherent differences in neurobiology between mice and humans. These nuanced distinctions highlight the complexity of sleep disruptions in Dup15q syndrome and emphasize the need for a comprehensive understanding that encompasses both shared and distinct features between murine models and clinical populations. En ligne : https://dx.doi.org/10.1186/s11689-024-09556-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575

Diffusion indices alteration in major white matter tracts of children with tic disorder using TRACULA / June Christoph KANG in Journal of Neurodevelopmental Disorders, 16 (2024)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 16 (2024) Titre : Diffusion indices alteration in major white matter tracts of children with tic disorder using TRACULA Type de document : texte imprimé Auteurs : June Christoph KANG, Auteur ; SuHyuk CHI, Auteur ; Young Eun MOK, Auteur ; Jeong-Ahn KIM, Auteur ; So Hyun KIM, Auteur ; Moon Soo LEE, Auteur Langues : Anglais (eng) Mots-clés : Humans  Male  Female  White Matter/diagnostic imaging/pathology  Child  Tic Disorders/diagnostic imaging/physiopathology/pathology  Diffusion Tensor Imaging  Adolescent  Corpus Callosum/diagnostic imaging/pathology  Diffusion Magnetic Resonance Imaging Index. décimale : PER Périodiques Résumé : BACKGROUND: Tic disorder is a neuropsychiatric disorder characterized by involuntary movements or vocalizations. Previous studies utilizing diffusion-weighted imaging to explore white-matter alterations in tic disorders have reported inconsistent results regarding the affected tracts. We aimed to address this gap by employing a novel tractography technique for more detailed analysis. METHODS: We analyzed MRI data from 23 children with tic disorders and 23 healthy controls using TRActs Constrained by UnderLying Anatomy (TRACULA), an advanced automated probabilistic tractography method. We examined fractional anisotropy (FA), radial diffusivity (RD), axial diffusivity, and mean diffusivity in 42 specific significant white matter tracts. RESULTS: Our findings revealed notable differences in the children with tic disorders compared to the control group. Specifically, there was a significant reduction in FA in the parietal part and splenium of the corpus callosum and the left corticospinal tract. Increased RD was observed in the temporal and splenium areas of the corpus callosum, the left corticospinal tract, and the left acoustic radiation. A higher mean diffusivity was also noted in the left middle longitudinal fasciculus. A significant correlation emerged between the severity of motor symptoms, measured by the Yale Global Tic Severity Scale, and FA in the parietal part of the corpus callosum, as well as RD in the left acoustic radiation. CONCLUSION: These results indicate a pattern of reduced interhemispheric connectivity in the corpus callosum, aligning with previous studies and novel findings in the diffusion indices changes in the left corticospinal tract, left acoustic radiation, and left middle longitudinal fasciculus. Tic disorders might involve structural abnormalities in key white matter tracts, offering new insights into their pathogenesis. En ligne : https://dx.doi.org/10.1186/s11689-024-09558-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575 [article] Diffusion indices alteration in major white matter tracts of children with tic disorder using TRACULA [texte imprimé] / June Christoph KANG, Auteur ; SuHyuk CHI, Auteur ; Young Eun MOK, Auteur ; Jeong-Ahn KIM, Auteur ; So Hyun KIM, Auteur ; Moon Soo LEE, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 16 (2024) Mots-clés : Humans  Male  Female  White Matter/diagnostic imaging/pathology  Child  Tic Disorders/diagnostic imaging/physiopathology/pathology  Diffusion Tensor Imaging  Adolescent  Corpus Callosum/diagnostic imaging/pathology  Diffusion Magnetic Resonance Imaging Index. décimale : PER Périodiques Résumé : BACKGROUND: Tic disorder is a neuropsychiatric disorder characterized by involuntary movements or vocalizations. Previous studies utilizing diffusion-weighted imaging to explore white-matter alterations in tic disorders have reported inconsistent results regarding the affected tracts. We aimed to address this gap by employing a novel tractography technique for more detailed analysis. METHODS: We analyzed MRI data from 23 children with tic disorders and 23 healthy controls using TRActs Constrained by UnderLying Anatomy (TRACULA), an advanced automated probabilistic tractography method. We examined fractional anisotropy (FA), radial diffusivity (RD), axial diffusivity, and mean diffusivity in 42 specific significant white matter tracts. RESULTS: Our findings revealed notable differences in the children with tic disorders compared to the control group. Specifically, there was a significant reduction in FA in the parietal part and splenium of the corpus callosum and the left corticospinal tract. Increased RD was observed in the temporal and splenium areas of the corpus callosum, the left corticospinal tract, and the left acoustic radiation. A higher mean diffusivity was also noted in the left middle longitudinal fasciculus. A significant correlation emerged between the severity of motor symptoms, measured by the Yale Global Tic Severity Scale, and FA in the parietal part of the corpus callosum, as well as RD in the left acoustic radiation. CONCLUSION: These results indicate a pattern of reduced interhemispheric connectivity in the corpus callosum, aligning with previous studies and novel findings in the diffusion indices changes in the left corticospinal tract, left acoustic radiation, and left middle longitudinal fasciculus. Tic disorders might involve structural abnormalities in key white matter tracts, offering new insights into their pathogenesis. En ligne : https://dx.doi.org/10.1186/s11689-024-09558-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575

A clinical-translational review of sleep problems in neurodevelopmental disabilities / Sarika U. PETERS in Journal of Neurodevelopmental Disorders, 16 (2024)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 16 (2024) Titre : A clinical-translational review of sleep problems in neurodevelopmental disabilities Type de document : texte imprimé Auteurs : Sarika U. PETERS, Auteur ; Althea Robinson SHELTON, Auteur ; Beth A. MALOW, Auteur ; Jeffrey L. NEUL, Auteur Langues : Anglais (eng) Mots-clés : Humans  Sleep Wake Disorders/physiopathology  Animals  Neurodevelopmental Disorders/complications  Angelman Syndrome/complications  Disease Models, Animal  Autism Spectrum Disorder/complications  Translational Research, Biomedical  Rett Syndrome/complications/genetics  Down Syndrome/complications  Angelman syndrome  Animal models  Autism  Down syndrome  Neurodevelopmental disabilities  Rett syndrome  Sleep Index. décimale : PER Périodiques Résumé : Sleep disorders are very common across neurodevelopmental disorders and place a large burden on affected children, adolescents, and their families. Sleep disturbances seem to involve a complex interplay of genetic, neurobiological, and medical/environmental factors in neurodevelopmental disorders. In this review, we discuss animal models of sleep problems and characterize their presence in two single gene disorders, Rett Syndrome, and Angelman Syndrome and two more commonly occurring neurodevelopmental disorders, Down Syndrome, and autism spectrum disorders. We then discuss strategies for novel methods of assessment using wearable sensors more broadly for neurodevelopmental disorders in general, including the importance of analytical validation. An increased understanding of the mechanistic contributions and potential biomarkers of disordered sleep may offer quantifiable targets for interventions that improve overall quality of life for affected individuals and their families. En ligne : https://dx.doi.org/10.1186/s11689-024-09559-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575 [article] A clinical-translational review of sleep problems in neurodevelopmental disabilities [texte imprimé] / Sarika U. PETERS, Auteur ; Althea Robinson SHELTON, Auteur ; Beth A. MALOW, Auteur ; Jeffrey L. NEUL, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 16 (2024) Mots-clés : Humans  Sleep Wake Disorders/physiopathology  Animals  Neurodevelopmental Disorders/complications  Angelman Syndrome/complications  Disease Models, Animal  Autism Spectrum Disorder/complications  Translational Research, Biomedical  Rett Syndrome/complications/genetics  Down Syndrome/complications  Angelman syndrome  Animal models  Autism  Down syndrome  Neurodevelopmental disabilities  Rett syndrome  Sleep Index. décimale : PER Périodiques Résumé : Sleep disorders are very common across neurodevelopmental disorders and place a large burden on affected children, adolescents, and their families. Sleep disturbances seem to involve a complex interplay of genetic, neurobiological, and medical/environmental factors in neurodevelopmental disorders. In this review, we discuss animal models of sleep problems and characterize their presence in two single gene disorders, Rett Syndrome, and Angelman Syndrome and two more commonly occurring neurodevelopmental disorders, Down Syndrome, and autism spectrum disorders. We then discuss strategies for novel methods of assessment using wearable sensors more broadly for neurodevelopmental disorders in general, including the importance of analytical validation. An increased understanding of the mechanistic contributions and potential biomarkers of disordered sleep may offer quantifiable targets for interventions that improve overall quality of life for affected individuals and their families. En ligne : https://dx.doi.org/10.1186/s11689-024-09559-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575

Characterizing the journey of Rett syndrome among females in the United States: a real-world evidence study using the Rett syndrome natural history study database / Damian MAY in Journal of Neurodevelopmental Disorders, 16 (2024)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 16 (2024) Titre : Characterizing the journey of Rett syndrome among females in the United States: a real-world evidence study using the Rett syndrome natural history study database Type de document : texte imprimé Auteurs : Damian MAY, Auteur ; Kalé KPONEE-SHOVEIN, Auteur ; Jeffrey L. NEUL, Auteur ; Alan K. PERCY, Auteur ; Malena MAHENDRAN, Auteur ; Nathaniel DOWNES, Auteur ; Grace CHEN, Auteur ; Talissa WATSON, Auteur ; Dominique C. PICHARD, Auteur ; Melissa KENNEDY, Auteur ; Patrick LEFEBVRE, Auteur Langues : Anglais (eng) Mots-clés : Humans  Rett Syndrome/physiopathology/therapy/complications  Female  United States/epidemiology  Adult  Child  Adolescent  Retrospective Studies  Young Adult  Child, Preschool  Severity of Illness Index  Registries  Infant  Databases, Factual  Clinical manifestations  Disease progression  Natural history  Registry  Rett syndrome  Treatment patterns  International Rett Syndrome Foundation. KKS, MM, ND, GC, TW, and PL are employees  of Analysis Group, Inc., a consultancy that received funding from Acadia  Pharmaceuticals, Inc. to conduct this study. AKP is co-editor of Translational  Science of Rare Diseases, received research funding from the National Institutes  of Health, and is a consultant for Acadia Pharmaceuticals Inc., Anavex Life  Sciences Corp., AveXis, and GW Pharmaceuticals, as well as advisor to the  International Rett Syndrome Foundation. JLN has received research funding from  the International Rett Syndrome Foundation, the National Institutes of Health,  and Rett Syndrome Research Trust and personal consultancy fees from Acadia  Pharmaceuticals Inc., Analysis Group, AveXis, GW Pharmaceuticals, Hoffmann-La  Roche, Myrtelle, Neurogene, Newron Pharmaceuticals, Signant Health, and Taysha  Gene Therapies, and for the preparation of CME activities for Medscape and Peer  Review Institute  serves on the scientific advisory board of Alcyone  Lifesciences  is a scientific cofounder of LizarBio Therapeutics  and was a  member of a data safety monitoring board for clinical trials conducted by Ovid  Therapeutics. Index. décimale : PER Périodiques Résumé : BACKGROUND: With the advent of the first targeted therapy for Rett Syndrome (RTT), a comprehensive assessment of the journey of RTT is needed to elucidate on present unmet needs in this population. This study characterized females with RTT in the United States and their disease journey with respect to longitudinal treatment patterns, RTT-related outcomes, and changes in disease severity. METHODS: This retrospective cohort study used registry data of females with RTT from the 5211 RTT Natural History Study (RNHS) (November 2015-July 2021). Pharmacological and supportive therapy use, RTT-related outcomes, and RTT severity, as measured by the Clinical Severity Scale and Motor Behavioral Assessment scale, were evaluated following the first RNHS visit. Analyses were conducted overall and in subgroups by RTT type (classic and atypical RTT) and age at first visit (pediatric and adult). RESULTS: A total of 455 females with RTT were included in the study, of whom 90.5% had classic RTT and 79.8% were pediatric individuals. Over a median follow-up of 4 years, use of pharmacological therapies, including prokinetic agents (42.7% vs. 28.3%), and supportive therapies, including physical therapy (87.3% vs. 40.2%) and speech-language therapy (86.8% vs. 23.9%), were more common in pediatric than adult individuals (all p < 0.05). Nearly half (44.6%) of all individuals had a hospital or emergency room visit, with a higher proportion of visits in individuals with classic RTT than atypical RTT and pediatric than adult individuals (both p = 0.001). An increasing trend in clinical severity was observed in pediatric individuals (mean change per year: 0.24; 95% confidence interval [CI]: 0.03, 0.44), while an increasing trend in motor-behavioral dysfunction was observed in pediatric individuals (mean change per year: 1.12; 95% CI: 0.63, 1.60) and those with classic RTT (mean change per year: 0.97; 95% CI: 0.53, 1.41). CONCLUSIONS: Findings from this study highlight the considerable burden of RTT across disease subtype and age. Despite reliance on supportive therapies and healthcare encounters, individuals with RTT experience increasing disease severity and motor-behavioral dysfunction in childhood and adolescence, underscoring the unmet needs of this population and the value of early intervention to manage RTT in the long-term. En ligne : https://dx.doi.org/10.1186/s11689-024-09557-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575 [article] Characterizing the journey of Rett syndrome among females in the United States: a real-world evidence study using the Rett syndrome natural history study database [texte imprimé] / Damian MAY, Auteur ; Kalé KPONEE-SHOVEIN, Auteur ; Jeffrey L. NEUL, Auteur ; Alan K. PERCY, Auteur ; Malena MAHENDRAN, Auteur ; Nathaniel DOWNES, Auteur ; Grace CHEN, Auteur ; Talissa WATSON, Auteur ; Dominique C. PICHARD, Auteur ; Melissa KENNEDY, Auteur ; Patrick LEFEBVRE, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 16 (2024) Mots-clés : Humans  Rett Syndrome/physiopathology/therapy/complications  Female  United States/epidemiology  Adult  Child  Adolescent  Retrospective Studies  Young Adult  Child, Preschool  Severity of Illness Index  Registries  Infant  Databases, Factual  Clinical manifestations  Disease progression  Natural history  Registry  Rett syndrome  Treatment patterns  International Rett Syndrome Foundation. KKS, MM, ND, GC, TW, and PL are employees  of Analysis Group, Inc., a consultancy that received funding from Acadia  Pharmaceuticals, Inc. to conduct this study. AKP is co-editor of Translational  Science of Rare Diseases, received research funding from the National Institutes  of Health, and is a consultant for Acadia Pharmaceuticals Inc., Anavex Life  Sciences Corp., AveXis, and GW Pharmaceuticals, as well as advisor to the  International Rett Syndrome Foundation. JLN has received research funding from  the International Rett Syndrome Foundation, the National Institutes of Health,  and Rett Syndrome Research Trust and personal consultancy fees from Acadia  Pharmaceuticals Inc., Analysis Group, AveXis, GW Pharmaceuticals, Hoffmann-La  Roche, Myrtelle, Neurogene, Newron Pharmaceuticals, Signant Health, and Taysha  Gene Therapies, and for the preparation of CME activities for Medscape and Peer  Review Institute  serves on the scientific advisory board of Alcyone  Lifesciences  is a scientific cofounder of LizarBio Therapeutics  and was a  member of a data safety monitoring board for clinical trials conducted by Ovid  Therapeutics. Index. décimale : PER Périodiques Résumé : BACKGROUND: With the advent of the first targeted therapy for Rett Syndrome (RTT), a comprehensive assessment of the journey of RTT is needed to elucidate on present unmet needs in this population. This study characterized females with RTT in the United States and their disease journey with respect to longitudinal treatment patterns, RTT-related outcomes, and changes in disease severity. METHODS: This retrospective cohort study used registry data of females with RTT from the 5211 RTT Natural History Study (RNHS) (November 2015-July 2021). Pharmacological and supportive therapy use, RTT-related outcomes, and RTT severity, as measured by the Clinical Severity Scale and Motor Behavioral Assessment scale, were evaluated following the first RNHS visit. Analyses were conducted overall and in subgroups by RTT type (classic and atypical RTT) and age at first visit (pediatric and adult). RESULTS: A total of 455 females with RTT were included in the study, of whom 90.5% had classic RTT and 79.8% were pediatric individuals. Over a median follow-up of 4 years, use of pharmacological therapies, including prokinetic agents (42.7% vs. 28.3%), and supportive therapies, including physical therapy (87.3% vs. 40.2%) and speech-language therapy (86.8% vs. 23.9%), were more common in pediatric than adult individuals (all p < 0.05). Nearly half (44.6%) of all individuals had a hospital or emergency room visit, with a higher proportion of visits in individuals with classic RTT than atypical RTT and pediatric than adult individuals (both p = 0.001). An increasing trend in clinical severity was observed in pediatric individuals (mean change per year: 0.24; 95% confidence interval [CI]: 0.03, 0.44), while an increasing trend in motor-behavioral dysfunction was observed in pediatric individuals (mean change per year: 1.12; 95% CI: 0.63, 1.60) and those with classic RTT (mean change per year: 0.97; 95% CI: 0.53, 1.41). CONCLUSIONS: Findings from this study highlight the considerable burden of RTT across disease subtype and age. Despite reliance on supportive therapies and healthcare encounters, individuals with RTT experience increasing disease severity and motor-behavioral dysfunction in childhood and adolescence, underscoring the unmet needs of this population and the value of early intervention to manage RTT in the long-term. En ligne : https://dx.doi.org/10.1186/s11689-024-09557-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575

Development and psychometric properties of the Clinical Anxiety Scale for People with Intellectual Disabilities (ClASP-ID) / Jessica Eliza MINGINS in Journal of Neurodevelopmental Disorders, 16 (2024)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 16 (2024) Titre : Development and psychometric properties of the Clinical Anxiety Scale for People with Intellectual Disabilities (ClASP-ID) Type de document : texte imprimé Auteurs : Jessica Eliza MINGINS, Auteur ; Joanne TARVER, Auteur ; Effie PEARSON, Auteur ; Georgina EDWARDS, Auteur ; Megan BIRD, Auteur ; Hayley CRAWFORD, Auteur ; Chris OLIVER, Auteur ; Lauren SHELLEY, Auteur ; Jane WAITE, Auteur Langues : Anglais (eng) Mots-clés : Humans  Psychometrics  Intellectual Disability/complications  Male  Female  Adult  Anxiety/diagnosis  Adolescent  Young Adult  Child  Reproducibility of Results  Middle Aged  Child, Preschool  Psychiatric Status Rating Scales/standards  Surveys and Questionnaires  Autistic Disorder/complications/diagnosis/psychology  Anxiety  Assessment  Autism  Intellectual disability  Measure development  Mental Health  Pain  Questionnaire Index. décimale : PER Périodiques Résumé : BACKGROUND: There is a critical need for the development of dependable and valid anxiety assessment tools suitable for people with moderate to severe intellectual disabilities, particularly those who speak few or no words. Distinguishing anxiety from distress caused by physical discomfort (pain) or characteristics associated with autism, prevalent in this population, necessitates specialised assessment tools. This study (a) developed a parent-report anxiety questionnaire tailored for individuals with severe to moderate intellectual disabilities, potentially with a co-diagnosis of autism, and (b) evaluated the psychometric attributes of this novel measure. METHODS: A comprehensive approach involving literature reviews, inspection of existing tools, and interviews with clinicians and parents guided the creation of the Clinical Anxiety Scale for People with Intellectual Disabilities. The tool was completed by parents or caregivers (N = 311) reporting on individuals aged 4 or older with intellectual disabilities. RESULTS: Exploratory factor analysis indicated a four-factor structure encompassing anxiety, pain, low energy/withdrawal, and consolability. The anxiety factor explained the most variance in scores (26.3%). The anxiety, pain, low energy/withdrawal subscales demonstrated robust internal consistency (α = 0.81-0.92), and convergent, divergent, and discriminant validity. Robustness of these subscales was further evidenced by test-retest reliability (ICC = 0.79-0.88) and inter-rater reliability (ICC = 0.64-0.71). Subgroup analyses consistently demonstrated strong psychometric properties among individuals diagnosed with non-syndromic autism (N = 98), children (N = 135), adults (N = 175), and across diverse communication abilities within the sample. Moreover, individuals diagnosed with both autism and anxiety exhibited significantly higher scores on the anxiety subscale compared to those without an anxiety diagnosis, while showing no difference in autism characteristic scores. CONCLUSIONS: The findings indicate that the Clinical Anxiety Scale for People with Intellectual Disabilities is a promising measure for use across diverse diagnostic groups, varying communication abilities, and with people with moderate to severe intellectual disabilities. En ligne : https://dx.doi.org/10.1186/s11689-024-09554-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575 [article] Development and psychometric properties of the Clinical Anxiety Scale for People with Intellectual Disabilities (ClASP-ID) [texte imprimé] / Jessica Eliza MINGINS, Auteur ; Joanne TARVER, Auteur ; Effie PEARSON, Auteur ; Georgina EDWARDS, Auteur ; Megan BIRD, Auteur ; Hayley CRAWFORD, Auteur ; Chris OLIVER, Auteur ; Lauren SHELLEY, Auteur ; Jane WAITE, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 16 (2024) Mots-clés : Humans  Psychometrics  Intellectual Disability/complications  Male  Female  Adult  Anxiety/diagnosis  Adolescent  Young Adult  Child  Reproducibility of Results  Middle Aged  Child, Preschool  Psychiatric Status Rating Scales/standards  Surveys and Questionnaires  Autistic Disorder/complications/diagnosis/psychology  Anxiety  Assessment  Autism  Intellectual disability  Measure development  Mental Health  Pain  Questionnaire Index. décimale : PER Périodiques Résumé : BACKGROUND: There is a critical need for the development of dependable and valid anxiety assessment tools suitable for people with moderate to severe intellectual disabilities, particularly those who speak few or no words. Distinguishing anxiety from distress caused by physical discomfort (pain) or characteristics associated with autism, prevalent in this population, necessitates specialised assessment tools. This study (a) developed a parent-report anxiety questionnaire tailored for individuals with severe to moderate intellectual disabilities, potentially with a co-diagnosis of autism, and (b) evaluated the psychometric attributes of this novel measure. METHODS: A comprehensive approach involving literature reviews, inspection of existing tools, and interviews with clinicians and parents guided the creation of the Clinical Anxiety Scale for People with Intellectual Disabilities. The tool was completed by parents or caregivers (N = 311) reporting on individuals aged 4 or older with intellectual disabilities. RESULTS: Exploratory factor analysis indicated a four-factor structure encompassing anxiety, pain, low energy/withdrawal, and consolability. The anxiety factor explained the most variance in scores (26.3%). The anxiety, pain, low energy/withdrawal subscales demonstrated robust internal consistency (α = 0.81-0.92), and convergent, divergent, and discriminant validity. Robustness of these subscales was further evidenced by test-retest reliability (ICC = 0.79-0.88) and inter-rater reliability (ICC = 0.64-0.71). Subgroup analyses consistently demonstrated strong psychometric properties among individuals diagnosed with non-syndromic autism (N = 98), children (N = 135), adults (N = 175), and across diverse communication abilities within the sample. Moreover, individuals diagnosed with both autism and anxiety exhibited significantly higher scores on the anxiety subscale compared to those without an anxiety diagnosis, while showing no difference in autism characteristic scores. CONCLUSIONS: The findings indicate that the Clinical Anxiety Scale for People with Intellectual Disabilities is a promising measure for use across diverse diagnostic groups, varying communication abilities, and with people with moderate to severe intellectual disabilities. En ligne : https://dx.doi.org/10.1186/s11689-024-09554-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575

Exploring the link between toxic metal exposure and ADHD: a systematic review of pb and hg / Reyhane FARMANI in Journal of Neurodevelopmental Disorders, 16 (2024)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 16 (2024) Titre : Exploring the link between toxic metal exposure and ADHD: a systematic review of pb and hg Type de document : texte imprimé Auteurs : Reyhane FARMANI, Auteur ; Omid MEHRPOUR, Auteur ; Alireza KOOSHKI, Auteur ; Samaneh NAKHAEE, Auteur Langues : Anglais (eng) Mots-clés : Humans  Attention Deficit Disorder with Hyperactivity/epidemiology/chemically induced  Lead/blood/adverse effects  Mercury/urine/blood/adverse effects  Child  Environmental Exposure/adverse effects  Adhd  Attention-deficit/hyperactivity disorder  Heavy metals  Hg  Lead  Mercury  Neurodevelopmental disorders  Pb Index. décimale : PER Périodiques Résumé : INTRODUCTION: Attention-Deficit/Hyperactivity Disorder (ADHD) is a recognized neurodevelopmental disorder with a complex, multifactorial origin. Lead (Pb) and mercury (Hg) are highly toxic substances that can potentially impair brain development and have been implicated in the development of ADHD. This systematic review aims to analyze the epidemiological literature regarding the association between Pb and Hg exposure and the diagnosis of ADHD. METHODS: From November 1983 to June 2, 2023, a comprehensive search was conducted in multiple databases and search engines, including PubMed, Web of Science, Scopus, and Google Scholar. Observational studies (case-control, cohort, and cross-sectional) measuring Pb and Hg levels in various biological samples (blood, hair, urine, nail, saliva, teeth, and bone) of children with ADHD or their parents and their association with ADHD symptoms were included. RESULTS: Out of 2059 studies, 87 met the inclusion criteria and were included in this systematic review. Approximately two-thirds of the 74 studies investigating Pb levels in different biological samples reported associations with at least one subtype of ADHD. However, most studies examining Hg levels in various biological samples found no significant association with any ADHD subtype, although there were variations in exposure periods and diagnostic criteria. CONCLUSION: The evidence gathered from the included studies supports an association between Pb exposure and the diagnosis of ADHD, while no significant association was found with Hg exposure. Importantly, even low levels of Pb were found to elevate the risk of ADHD. Further research is needed to explore the comprehensive range of risk factors for ADHD in children, considering its significance as a neurodevelopmental disorder. En ligne : https://dx.doi.org/10.1186/s11689-024-09555-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575 [article] Exploring the link between toxic metal exposure and ADHD: a systematic review of pb and hg [texte imprimé] / Reyhane FARMANI, Auteur ; Omid MEHRPOUR, Auteur ; Alireza KOOSHKI, Auteur ; Samaneh NAKHAEE, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 16 (2024) Mots-clés : Humans  Attention Deficit Disorder with Hyperactivity/epidemiology/chemically induced  Lead/blood/adverse effects  Mercury/urine/blood/adverse effects  Child  Environmental Exposure/adverse effects  Adhd  Attention-deficit/hyperactivity disorder  Heavy metals  Hg  Lead  Mercury  Neurodevelopmental disorders  Pb Index. décimale : PER Périodiques Résumé : INTRODUCTION: Attention-Deficit/Hyperactivity Disorder (ADHD) is a recognized neurodevelopmental disorder with a complex, multifactorial origin. Lead (Pb) and mercury (Hg) are highly toxic substances that can potentially impair brain development and have been implicated in the development of ADHD. This systematic review aims to analyze the epidemiological literature regarding the association between Pb and Hg exposure and the diagnosis of ADHD. METHODS: From November 1983 to June 2, 2023, a comprehensive search was conducted in multiple databases and search engines, including PubMed, Web of Science, Scopus, and Google Scholar. Observational studies (case-control, cohort, and cross-sectional) measuring Pb and Hg levels in various biological samples (blood, hair, urine, nail, saliva, teeth, and bone) of children with ADHD or their parents and their association with ADHD symptoms were included. RESULTS: Out of 2059 studies, 87 met the inclusion criteria and were included in this systematic review. Approximately two-thirds of the 74 studies investigating Pb levels in different biological samples reported associations with at least one subtype of ADHD. However, most studies examining Hg levels in various biological samples found no significant association with any ADHD subtype, although there were variations in exposure periods and diagnostic criteria. CONCLUSION: The evidence gathered from the included studies supports an association between Pb exposure and the diagnosis of ADHD, while no significant association was found with Hg exposure. Importantly, even low levels of Pb were found to elevate the risk of ADHD. Further research is needed to explore the comprehensive range of risk factors for ADHD in children, considering its significance as a neurodevelopmental disorder. En ligne : https://dx.doi.org/10.1186/s11689-024-09555-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575

Sensory symptoms associated with autistic traits and anxiety levels in children aged 6-11 years / Peter BANG in Journal of Neurodevelopmental Disorders, 16 (2024)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 16 (2024) Titre : Sensory symptoms associated with autistic traits and anxiety levels in children aged 6-11 years Type de document : texte imprimé Auteurs : Peter BANG, Auteur ; Danait Kidane ANDEMICHAEL, Auteur ; Johan F. PIESLINGER, Auteur ; Kajsa IGELSTROM, Auteur Langues : Anglais (eng) Mots-clés : Humans  Female  Child  Male  Anxiety  Autism Spectrum Disorder/complications/physiopathology  Sensation Disorders/etiology/physiopathology  Autistic Disorder/complications/physiopathology  Broad autistic phenotype  Central auditory processing disorder  Developmental Coordination Disorder Questionnaire  Dimensional measures  Glasgow sensory questionnaire  Hyperacusis  Research Domain Criteria Index. décimale : PER Périodiques Résumé : BACKGROUND: Autism spectrum conditions (ASC) and quantitative autistic traits (QATs) are associated with sensory symptoms, which may contribute to anxiety and adversely affect social and cognitive development. Although sensory symptoms can occur across all senses, the relative roles of specific sensory modalities as contributors to the autistic phenotype and to anxiety are not well understood. The objective of this study was to examine which sensory symptoms were most predictive of high anxiety. METHODS: We recruited 257 female primary caregivers of children aged 6 to 11 years (49% girls) to a questionnaire study comprising parent-report measures for classical QATs (social, communicative, and rigid), autism-related sensorimotor symptoms (visual, auditory, tactile, olfactory, gustatory, vestibular, proprioceptive, and motor), and anxiety symptoms. First, Bayesian stochastic search variable selection (SSVS) was used to identify the most probable sensorimotor predictors of specific QATs as well as diagnosed ASC. Then, the selected predictors were used in another SSVS, using anxiety symptoms as a dependent variable, to identify which of the autism-relevant sensorimotor symptoms were most robustly predictive of anxiety. Finally, the effect sizes of anxiety-related sensory symptoms were estimated with linear regressions. RESULTS: We found that auditory symptoms and motor difficulties were most predictive of ASC diagnosis. Developmental motor difficulties were also strongly related to all individual QATs, whereas auditory symptoms were more selectively predictive of rigid traits. Tactile symptoms robustly predicted social interaction QATs, and proprioceptive symptoms predicted communicative QATs. Anxiety outcomes were most strongly predicted by difficulties with auditory and olfactory processing. CONCLUSIONS: The results support the clinical importance of being alert to complaints about sounds and hearing in neurodevelopmental populations, and that auditory processing difficulties may be evaluated as an early marker of poor mental health in children with and without diagnosed autism. Olfactory processing differences appeared to be an anxiety marker less strongly associated with ASC or QATs, while motor difficulties were highly autism-relevant but not equally strongly associated with anxiety outcomes. We suggest that future studies may focus on the mechanisms and consequences of neurodevelopmental central auditory processing dysfunction and its potential relationship to anxiety disorders. En ligne : https://dx.doi.org/10.1186/s11689-024-09562-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575 [article] Sensory symptoms associated with autistic traits and anxiety levels in children aged 6-11 years [texte imprimé] / Peter BANG, Auteur ; Danait Kidane ANDEMICHAEL, Auteur ; Johan F. PIESLINGER, Auteur ; Kajsa IGELSTROM, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 16 (2024) Mots-clés : Humans  Female  Child  Male  Anxiety  Autism Spectrum Disorder/complications/physiopathology  Sensation Disorders/etiology/physiopathology  Autistic Disorder/complications/physiopathology  Broad autistic phenotype  Central auditory processing disorder  Developmental Coordination Disorder Questionnaire  Dimensional measures  Glasgow sensory questionnaire  Hyperacusis  Research Domain Criteria Index. décimale : PER Périodiques Résumé : BACKGROUND: Autism spectrum conditions (ASC) and quantitative autistic traits (QATs) are associated with sensory symptoms, which may contribute to anxiety and adversely affect social and cognitive development. Although sensory symptoms can occur across all senses, the relative roles of specific sensory modalities as contributors to the autistic phenotype and to anxiety are not well understood. The objective of this study was to examine which sensory symptoms were most predictive of high anxiety. METHODS: We recruited 257 female primary caregivers of children aged 6 to 11 years (49% girls) to a questionnaire study comprising parent-report measures for classical QATs (social, communicative, and rigid), autism-related sensorimotor symptoms (visual, auditory, tactile, olfactory, gustatory, vestibular, proprioceptive, and motor), and anxiety symptoms. First, Bayesian stochastic search variable selection (SSVS) was used to identify the most probable sensorimotor predictors of specific QATs as well as diagnosed ASC. Then, the selected predictors were used in another SSVS, using anxiety symptoms as a dependent variable, to identify which of the autism-relevant sensorimotor symptoms were most robustly predictive of anxiety. Finally, the effect sizes of anxiety-related sensory symptoms were estimated with linear regressions. RESULTS: We found that auditory symptoms and motor difficulties were most predictive of ASC diagnosis. Developmental motor difficulties were also strongly related to all individual QATs, whereas auditory symptoms were more selectively predictive of rigid traits. Tactile symptoms robustly predicted social interaction QATs, and proprioceptive symptoms predicted communicative QATs. Anxiety outcomes were most strongly predicted by difficulties with auditory and olfactory processing. CONCLUSIONS: The results support the clinical importance of being alert to complaints about sounds and hearing in neurodevelopmental populations, and that auditory processing difficulties may be evaluated as an early marker of poor mental health in children with and without diagnosed autism. Olfactory processing differences appeared to be an anxiety marker less strongly associated with ASC or QATs, while motor difficulties were highly autism-relevant but not equally strongly associated with anxiety outcomes. We suggest that future studies may focus on the mechanisms and consequences of neurodevelopmental central auditory processing dysfunction and its potential relationship to anxiety disorders. En ligne : https://dx.doi.org/10.1186/s11689-024-09562-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575

Behavioural and neurodevelopmental characteristics of SYNGAP1 / Nadja BEDNARCZUK in Journal of Neurodevelopmental Disorders, 16 (2024)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 16 (2024) Titre : Behavioural and neurodevelopmental characteristics of SYNGAP1 Type de document : texte imprimé Auteurs : Nadja BEDNARCZUK, Auteur ; Harriet HOUSBY, Auteur ; Irene O. LEE, Auteur ; Imagine CONSORTIUM, Auteur ; David SKUSE, Auteur ; Jeanne WOLSTENCROFT, Auteur Langues : Anglais (eng) Mots-clés : Humans  Female  ras GTPase-Activating Proteins/genetics  Male  Child  Adolescent  Child, Preschool  Intellectual Disability/genetics/etiology  Developmental Disabilities/genetics/etiology  United Kingdom  Neurodevelopmental Disorders/genetics  Cohort Studies  Phenotype  Epilepsy/genetics  Seizures/genetics  Autism  Behaviour  Intellectual Disability  Neurodevelopment  Syngap1 Index. décimale : PER Périodiques Résumé : BACKGROUND: SYNGAP1 variants are associated with varying degrees of intellectual disability (ID), developmental delay (DD), epilepsy, autism, and behavioural difficulties. These features may also be observed in other monogenic conditions. There is a need to systematically compare the characteristics of SYNGAP1 with other monogenic causes of ID and DD to identify features unique to the SYNAGP1 phenotype. We aimed to contrast the neurodevelopmental and behavioural phenotype of children with SYNGAP1-related ID (SYNGAP1-ID) to children with other monogenic conditions and a matched degree of ID. METHODS: Participants were identified from the IMAGINE-ID study, a UK-based, national cohort study of neuropsychiatric risk in children with ID of known genetic origin. Thirteen children with SYNGAP1 variants (age 4-16 years; 85% female) were matched (2:1) with 26 controls with other monogenic causes of ID for chronological and mental age, sex, socio-economic deprivation, adaptive behaviour, and physical health difficulties. Caregivers completed the Development and Wellbeing Assessment (DAWBA) and physical health questionnaires. RESULTS: Our results demonstrate that seizures affected children with SYNGAP1-ID (84.6%) more frequently than the ID-comparison group (7.6%; p = < 0.001). Fine-motor development was disproportionally impaired in SYNGAP1-ID, with 92.3% of children experiencing difficulties compared to 50% of ID-comparisons(p = 0.03). Gross motor and social development did not differ between the two groups. Children with SYNGAP1-ID were more likely to be non-verbal (61.5%) than ID-comparisons (23.1%; p = 0.01). Those children able to speak, spoke their first words at the same age as the ID-comparison group (mean = 3.25 years), yet achieved lower language competency (p = 0.04). Children with SYNGAP1-ID compared to the ID-comparison group were not more likely to meet criteria for autism (SYNGAP1-ID = 46.2%; ID-comparison = 30.7%; p = .35), attention-deficit hyperactivity disorder (15.4%;15.4%; p = 1), generalised anxiety (7.7%;15.4%; p = .49) or oppositional defiant disorder (7.7%;0%; p = .15). CONCLUSION: For the first time, we demonstrate that SYNGAP1-ID is associated with fine motor and language difficulties beyond those experienced by children with other genetic causes of DD and ID. Targeted occupational and speech and language therapies should be incorporated early into SYNGAP1-ID management. En ligne : https://dx.doi.org/10.1186/s11689-024-09563-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575 [article] Behavioural and neurodevelopmental characteristics of SYNGAP1 [texte imprimé] / Nadja BEDNARCZUK, Auteur ; Harriet HOUSBY, Auteur ; Irene O. LEE, Auteur ; Imagine CONSORTIUM, Auteur ; David SKUSE, Auteur ; Jeanne WOLSTENCROFT, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 16 (2024) Mots-clés : Humans  Female  ras GTPase-Activating Proteins/genetics  Male  Child  Adolescent  Child, Preschool  Intellectual Disability/genetics/etiology  Developmental Disabilities/genetics/etiology  United Kingdom  Neurodevelopmental Disorders/genetics  Cohort Studies  Phenotype  Epilepsy/genetics  Seizures/genetics  Autism  Behaviour  Intellectual Disability  Neurodevelopment  Syngap1 Index. décimale : PER Périodiques Résumé : BACKGROUND: SYNGAP1 variants are associated with varying degrees of intellectual disability (ID), developmental delay (DD), epilepsy, autism, and behavioural difficulties. These features may also be observed in other monogenic conditions. There is a need to systematically compare the characteristics of SYNGAP1 with other monogenic causes of ID and DD to identify features unique to the SYNAGP1 phenotype. We aimed to contrast the neurodevelopmental and behavioural phenotype of children with SYNGAP1-related ID (SYNGAP1-ID) to children with other monogenic conditions and a matched degree of ID. METHODS: Participants were identified from the IMAGINE-ID study, a UK-based, national cohort study of neuropsychiatric risk in children with ID of known genetic origin. Thirteen children with SYNGAP1 variants (age 4-16 years; 85% female) were matched (2:1) with 26 controls with other monogenic causes of ID for chronological and mental age, sex, socio-economic deprivation, adaptive behaviour, and physical health difficulties. Caregivers completed the Development and Wellbeing Assessment (DAWBA) and physical health questionnaires. RESULTS: Our results demonstrate that seizures affected children with SYNGAP1-ID (84.6%) more frequently than the ID-comparison group (7.6%; p = < 0.001). Fine-motor development was disproportionally impaired in SYNGAP1-ID, with 92.3% of children experiencing difficulties compared to 50% of ID-comparisons(p = 0.03). Gross motor and social development did not differ between the two groups. Children with SYNGAP1-ID were more likely to be non-verbal (61.5%) than ID-comparisons (23.1%; p = 0.01). Those children able to speak, spoke their first words at the same age as the ID-comparison group (mean = 3.25 years), yet achieved lower language competency (p = 0.04). Children with SYNGAP1-ID compared to the ID-comparison group were not more likely to meet criteria for autism (SYNGAP1-ID = 46.2%; ID-comparison = 30.7%; p = .35), attention-deficit hyperactivity disorder (15.4%;15.4%; p = 1), generalised anxiety (7.7%;15.4%; p = .49) or oppositional defiant disorder (7.7%;0%; p = .15). CONCLUSION: For the first time, we demonstrate that SYNGAP1-ID is associated with fine motor and language difficulties beyond those experienced by children with other genetic causes of DD and ID. Targeted occupational and speech and language therapies should be incorporated early into SYNGAP1-ID management. En ligne : https://dx.doi.org/10.1186/s11689-024-09563-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575

Parent attitudes towards predictive testing for autism in the first year of life / Aurora M. WASHINGTON in Journal of Neurodevelopmental Disorders, 16 (2024)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 16 (2024) Titre : Parent attitudes towards predictive testing for autism in the first year of life Type de document : texte imprimé Auteurs : Aurora M. WASHINGTON, Auteur ; Amanda H. MERCER, Auteur ; Catherine A. BURROWS, Auteur ; Stephen R. DAGER, Auteur ; Jed T. ELISON, Auteur ; Annette M. ESTES, Auteur ; Rebecca GRZADZINSKI, Auteur ; Chimei LEE, Auteur ; Joseph PIVEN, Auteur ; John R. Jr PRUETT, Auteur ; Mark D. SHEN, Auteur ; Benjamin WILFOND, Auteur ; Jason WOLFF, Auteur ; Lonnie ZWAIGENBAUM, Auteur ; Katherine E. MACDUFFIE, Auteur Langues : Anglais (eng) Mots-clés : Humans  Parents  Infant  Male  Female  Autistic Disorder/diagnosis  Adult  Biomarkers  Qualitative Research  Autism Spectrum Disorder/diagnosis  Autism  Bioethics  Prediction  Stakeholder engagement Index. décimale : PER Périodiques Résumé : BACKGROUND: Emerging biomarker technologies (e.g., MRI, EEG, digital phenotyping, eye-tracking) have potential to move the identification of autism into the first year of life. We investigated the perspectives of parents about the anticipated utility and impact of predicting later autism diagnosis from a biomarker-based test in infancy. METHODS: Parents of infants were interviewed to ascertain receptiveness and perspectives on early (6-12 months) prediction of autism using emerging biomarker technologies. One group had experience parenting an older autistic child (n=30), and the other had no prior autism parenting experience (n=25). Parent responses were analyzed using inductive qualitative coding methods. RESULTS: Almost all parents in both groups were interested in predictive testing for autism, with some stating they would seek testing only if concerned about their infant's development. The primary anticipated advantage of testing was to enable access to earlier intervention. Parents also described the anticipated emotions they would feel in response to test results, actions they might take upon learning their infant was likely to develop autism, attitudes towards predicting a child's future support needs, and the potential impacts of inaccurate prediction. CONCLUSION: In qualitative interviews, parents of infants with and without prior autism experience shared their anticipated motivations and concerns about predictive testing for autism in the first year of life. The primary reported motivators for testing-to have more time to prepare and intervene early-could be constrained by familial resources and service availability. Implications for ethical communication of results, equitable early intervention, and future research are discussed. En ligne : https://dx.doi.org/10.1186/s11689-024-09561-w Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575 [article] Parent attitudes towards predictive testing for autism in the first year of life [texte imprimé] / Aurora M. WASHINGTON, Auteur ; Amanda H. MERCER, Auteur ; Catherine A. BURROWS, Auteur ; Stephen R. DAGER, Auteur ; Jed T. ELISON, Auteur ; Annette M. ESTES, Auteur ; Rebecca GRZADZINSKI, Auteur ; Chimei LEE, Auteur ; Joseph PIVEN, Auteur ; John R. Jr PRUETT, Auteur ; Mark D. SHEN, Auteur ; Benjamin WILFOND, Auteur ; Jason WOLFF, Auteur ; Lonnie ZWAIGENBAUM, Auteur ; Katherine E. MACDUFFIE, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 16 (2024) Mots-clés : Humans  Parents  Infant  Male  Female  Autistic Disorder/diagnosis  Adult  Biomarkers  Qualitative Research  Autism Spectrum Disorder/diagnosis  Autism  Bioethics  Prediction  Stakeholder engagement Index. décimale : PER Périodiques Résumé : BACKGROUND: Emerging biomarker technologies (e.g., MRI, EEG, digital phenotyping, eye-tracking) have potential to move the identification of autism into the first year of life. We investigated the perspectives of parents about the anticipated utility and impact of predicting later autism diagnosis from a biomarker-based test in infancy. METHODS: Parents of infants were interviewed to ascertain receptiveness and perspectives on early (6-12 months) prediction of autism using emerging biomarker technologies. One group had experience parenting an older autistic child (n=30), and the other had no prior autism parenting experience (n=25). Parent responses were analyzed using inductive qualitative coding methods. RESULTS: Almost all parents in both groups were interested in predictive testing for autism, with some stating they would seek testing only if concerned about their infant's development. The primary anticipated advantage of testing was to enable access to earlier intervention. Parents also described the anticipated emotions they would feel in response to test results, actions they might take upon learning their infant was likely to develop autism, attitudes towards predicting a child's future support needs, and the potential impacts of inaccurate prediction. CONCLUSION: In qualitative interviews, parents of infants with and without prior autism experience shared their anticipated motivations and concerns about predictive testing for autism in the first year of life. The primary reported motivators for testing-to have more time to prepare and intervene early-could be constrained by familial resources and service availability. Implications for ethical communication of results, equitable early intervention, and future research are discussed. En ligne : https://dx.doi.org/10.1186/s11689-024-09561-w Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575

Altered individual-level morphological similarity network in children with growth hormone deficiency / Yanglei CHENG in Journal of Neurodevelopmental Disorders, 16 (2024)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 16 (2024) Titre : Altered individual-level morphological similarity network in children with growth hormone deficiency Type de document : texte imprimé Auteurs : Yanglei CHENG, Auteur ; Liping LIN, Auteur ; Weifeng HOU, Auteur ; Huaqiong QIU, Auteur ; Chengfen DENG, Auteur ; Zi YAN, Auteur ; Long QIAN, Auteur ; Wei CUI, Auteur ; Yanbing LI, Auteur ; Zhiyun YANG, Auteur ; Qiuli CHEN, Auteur ; Shu SU, Auteur Langues : Anglais (eng) Mots-clés : Humans  Male  Female  Child  Magnetic Resonance Imaging  Nerve Net/physiopathology/pathology/diagnostic imaging  Gray Matter/pathology/diagnostic imaging  Brain/pathology/diagnostic imaging/physiopathology  Dwarfism, Pituitary/physiopathology/pathology  Human Growth Hormone/deficiency/blood  Adolescent  Growth hormone deficiency  Morphological brain networks  Structural MRI  Topological organization Index. décimale : PER Périodiques Résumé : BACKGROUND: Accumulating evidences indicate regional grey matter (GM) morphology alterations in pediatric growth hormone deficiency (GHD); however, large-scale morphological brain networks (MBNs) undergo these patients remains unclear. OBJECTIVE: To investigate the topological organization of individual-level MBNs in pediatric GHD. METHODS: Sixty-one GHD and 42 typically developing controls (TDs) were enrolled. Inter-regional morphological similarity of GM was taken to construct individual-level MBNs. Between-group differences of topological parameters and network-based statistics analysis were compared. Finally, association relationship between network properties and clinical variables was analyzed. RESULTS: Compared to TDs, GHD indicated a disturbance in the normal small-world organization, reflected by increased L(p), γ, λ, σ and decreased C(p), E(glob) (all P(FDR) < 0.017). Regarding nodal properties, GHD exhibited increased nodal profiles at cerebellum 4-5, central executive network-related left inferior frontal gyrus, limbic regions-related right posterior cingulate gyrus, left hippocampus, and bilateral pallidum, thalamus (all P(FDR) < 0.05). Meanwhile, GHD exhibited decreased nodal profiles at sensorimotor network -related bilateral paracentral lobule, default-mode network-related left superior frontal gyrus, visual network -related right lingual gyrus, auditory network-related right superior temporal gyrus and bilateral amygdala, right cerebellum 3, bilateral cerebellum 10, vermis 1-2, 3, 4-5, 6 (all P(FDR) < 0.05). Furthermore, serum markers and behavior scores in GHD group were correlated with altered nodal profiles (P ≤ 0.046, uncorrected). CONCLUSION: GHD undergo an extensive reorganization in large-scale individual-level MBNs, probably due to abnormal cortico-striatal-thalamo-cerebellum loops, cortico-limbic-cerebellum, dorsal visual-sensorimotor-striatal, and auditory-cerebellum circuitry. This study highlights the crucial role of abnormal morphological connectivity underlying GHD, which might result in their relatively slower development in motor, cognitive, and linguistic functional within behavior problem performance. En ligne : https://dx.doi.org/10.1186/s11689-024-09566-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575 [article] Altered individual-level morphological similarity network in children with growth hormone deficiency [texte imprimé] / Yanglei CHENG, Auteur ; Liping LIN, Auteur ; Weifeng HOU, Auteur ; Huaqiong QIU, Auteur ; Chengfen DENG, Auteur ; Zi YAN, Auteur ; Long QIAN, Auteur ; Wei CUI, Auteur ; Yanbing LI, Auteur ; Zhiyun YANG, Auteur ; Qiuli CHEN, Auteur ; Shu SU, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 16 (2024) Mots-clés : Humans  Male  Female  Child  Magnetic Resonance Imaging  Nerve Net/physiopathology/pathology/diagnostic imaging  Gray Matter/pathology/diagnostic imaging  Brain/pathology/diagnostic imaging/physiopathology  Dwarfism, Pituitary/physiopathology/pathology  Human Growth Hormone/deficiency/blood  Adolescent  Growth hormone deficiency  Morphological brain networks  Structural MRI  Topological organization Index. décimale : PER Périodiques Résumé : BACKGROUND: Accumulating evidences indicate regional grey matter (GM) morphology alterations in pediatric growth hormone deficiency (GHD); however, large-scale morphological brain networks (MBNs) undergo these patients remains unclear. OBJECTIVE: To investigate the topological organization of individual-level MBNs in pediatric GHD. METHODS: Sixty-one GHD and 42 typically developing controls (TDs) were enrolled. Inter-regional morphological similarity of GM was taken to construct individual-level MBNs. Between-group differences of topological parameters and network-based statistics analysis were compared. Finally, association relationship between network properties and clinical variables was analyzed. RESULTS: Compared to TDs, GHD indicated a disturbance in the normal small-world organization, reflected by increased L(p), γ, λ, σ and decreased C(p), E(glob) (all P(FDR) < 0.017). Regarding nodal properties, GHD exhibited increased nodal profiles at cerebellum 4-5, central executive network-related left inferior frontal gyrus, limbic regions-related right posterior cingulate gyrus, left hippocampus, and bilateral pallidum, thalamus (all P(FDR) < 0.05). Meanwhile, GHD exhibited decreased nodal profiles at sensorimotor network -related bilateral paracentral lobule, default-mode network-related left superior frontal gyrus, visual network -related right lingual gyrus, auditory network-related right superior temporal gyrus and bilateral amygdala, right cerebellum 3, bilateral cerebellum 10, vermis 1-2, 3, 4-5, 6 (all P(FDR) < 0.05). Furthermore, serum markers and behavior scores in GHD group were correlated with altered nodal profiles (P ≤ 0.046, uncorrected). CONCLUSION: GHD undergo an extensive reorganization in large-scale individual-level MBNs, probably due to abnormal cortico-striatal-thalamo-cerebellum loops, cortico-limbic-cerebellum, dorsal visual-sensorimotor-striatal, and auditory-cerebellum circuitry. This study highlights the crucial role of abnormal morphological connectivity underlying GHD, which might result in their relatively slower development in motor, cognitive, and linguistic functional within behavior problem performance. En ligne : https://dx.doi.org/10.1186/s11689-024-09566-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575

Unraveling neuronal and metabolic alterations in neurofibromatosis type 1 / Valentina BOTERO in Journal of Neurodevelopmental Disorders, 16 (2024)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 16 (2024) Titre : Unraveling neuronal and metabolic alterations in neurofibromatosis type 1 Type de document : texte imprimé Auteurs : Valentina BOTERO, Auteur ; Seth M. TOMCHIK, Auteur Langues : Anglais (eng) Mots-clés : Neurofibromatosis 1/metabolism/physiopathology/complications  Humans  Neurons/metabolism  Brain/metabolism/physiopathology  Animals  Metabolism  Nf1  Neurofibromatosis type 1  Neurofibromin Index. décimale : PER Périodiques Résumé : Neurofibromatosis type 1 (OMIM 162200) affects ~ 1 in 3,000 individuals worldwide and is one of the most common monogenetic neurogenetic disorders that impacts brain function. The disorder affects various organ systems, including the central nervous system, resulting in a spectrum of clinical manifestations. Significant progress has been made in understanding the disorder's pathophysiology, yet gaps persist in understanding how the complex signaling and systemic interactions affect the disorder. Two features of the disorder are alterations in neuronal function and metabolism, and emerging evidence suggests a potential relationship between them. This review summarizes neurofibromatosis type 1 features and recent research findings on disease mechanisms, with an emphasis on neuronal and metabolic features. En ligne : https://dx.doi.org/10.1186/s11689-024-09565-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575 [article] Unraveling neuronal and metabolic alterations in neurofibromatosis type 1 [texte imprimé] / Valentina BOTERO, Auteur ; Seth M. TOMCHIK, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 16 (2024) Mots-clés : Neurofibromatosis 1/metabolism/physiopathology/complications  Humans  Neurons/metabolism  Brain/metabolism/physiopathology  Animals  Metabolism  Nf1  Neurofibromatosis type 1  Neurofibromin Index. décimale : PER Périodiques Résumé : Neurofibromatosis type 1 (OMIM 162200) affects ~ 1 in 3,000 individuals worldwide and is one of the most common monogenetic neurogenetic disorders that impacts brain function. The disorder affects various organ systems, including the central nervous system, resulting in a spectrum of clinical manifestations. Significant progress has been made in understanding the disorder's pathophysiology, yet gaps persist in understanding how the complex signaling and systemic interactions affect the disorder. Two features of the disorder are alterations in neuronal function and metabolism, and emerging evidence suggests a potential relationship between them. This review summarizes neurofibromatosis type 1 features and recent research findings on disease mechanisms, with an emphasis on neuronal and metabolic features. En ligne : https://dx.doi.org/10.1186/s11689-024-09565-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575

The role of social motivation in sharing and fairness: insights from Williams syndrome / Francesca FOTI in Journal of Neurodevelopmental Disorders, 16 (2024)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 16 (2024) Titre : The role of social motivation in sharing and fairness: insights from Williams syndrome Type de document : texte imprimé Auteurs : Francesca FOTI, Auteur ; Floriana COSTANZO, Auteur ; Carlo FABRIZIO, Auteur ; Andrea TERMINE, Auteur ; Deny MENGHINI, Auteur ; Tiziana IAQUINTA, Auteur ; Stefano VICARI, Auteur ; Laura PETROSINI, Auteur ; Peter R. BLAKE, Auteur Langues : Anglais (eng) Mots-clés : Humans  Williams Syndrome/physiopathology/psychology  Motivation/physiology  Male  Female  Child  Social Behavior  Games, Experimental  Adult  Behavioral phenotype  Children  Developmental disorders  Dictator game  Fairness  Inequity aversion  Inequity game  Resource distribution  Social cognition  Social phenotype  Williams syndrome Index. décimale : PER Périodiques Résumé : BACKGROUND: Sharing and fairness are important prosocial behaviors that help us navigate the social world. However, little is known about how and whether individuals with Williams Syndrome (WS) engage in these behaviors. The unique phenotype of individuals with WS, consisting of high social motivation and limited social cognition, can also offer insight into the role of social motivation in sharing and fairness when compared to typically developing (TD) individuals. The current study used established experimental paradigms to examine sharing and fairness in individuals with WS and TD individuals. METHODS: We compared a sample of patients with WS to TD children (6-year-olds) matched by mental age (MA) on two experimental tasks: the Dictator Game (DG, Experiment 1, N = 17 WS, 20 TD) with adults modeling giving behaviors used to test sharing and the Inequity Game (IG, Experiment 2, N = 14 WS, 17 TD) used to test fairness. RESULTS: Results showed that the WS group behaved similarly to the TD group for baseline giving in the DG and in the IG, rejecting disadvantageous offers but accepting advantageous ones. However, after viewing an adult model giving behavior, the WS group gave more than their baseline, with many individuals giving more than half, while the TD group gave less. Combined these results suggest that social motivation is sufficient for sharing and, in particular, generous sharing, as well as the self-focused form of fairness. Further, individuals with WS appear capable of both learning to be more generous and preventing disadvantageous outcomes, a more complex profile than previously known. CONCLUSIONS: In conclusion, the present study provides a snapshot into sharing and fairness-related behaviors in WS, contributing to our understanding of the intriguing social-behavioral phenotype associated with this developmental disorder. En ligne : https://dx.doi.org/10.1186/s11689-024-09568-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575 [article] The role of social motivation in sharing and fairness: insights from Williams syndrome [texte imprimé] / Francesca FOTI, Auteur ; Floriana COSTANZO, Auteur ; Carlo FABRIZIO, Auteur ; Andrea TERMINE, Auteur ; Deny MENGHINI, Auteur ; Tiziana IAQUINTA, Auteur ; Stefano VICARI, Auteur ; Laura PETROSINI, Auteur ; Peter R. BLAKE, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 16 (2024) Mots-clés : Humans  Williams Syndrome/physiopathology/psychology  Motivation/physiology  Male  Female  Child  Social Behavior  Games, Experimental  Adult  Behavioral phenotype  Children  Developmental disorders  Dictator game  Fairness  Inequity aversion  Inequity game  Resource distribution  Social cognition  Social phenotype  Williams syndrome Index. décimale : PER Périodiques Résumé : BACKGROUND: Sharing and fairness are important prosocial behaviors that help us navigate the social world. However, little is known about how and whether individuals with Williams Syndrome (WS) engage in these behaviors. The unique phenotype of individuals with WS, consisting of high social motivation and limited social cognition, can also offer insight into the role of social motivation in sharing and fairness when compared to typically developing (TD) individuals. The current study used established experimental paradigms to examine sharing and fairness in individuals with WS and TD individuals. METHODS: We compared a sample of patients with WS to TD children (6-year-olds) matched by mental age (MA) on two experimental tasks: the Dictator Game (DG, Experiment 1, N = 17 WS, 20 TD) with adults modeling giving behaviors used to test sharing and the Inequity Game (IG, Experiment 2, N = 14 WS, 17 TD) used to test fairness. RESULTS: Results showed that the WS group behaved similarly to the TD group for baseline giving in the DG and in the IG, rejecting disadvantageous offers but accepting advantageous ones. However, after viewing an adult model giving behavior, the WS group gave more than their baseline, with many individuals giving more than half, while the TD group gave less. Combined these results suggest that social motivation is sufficient for sharing and, in particular, generous sharing, as well as the self-focused form of fairness. Further, individuals with WS appear capable of both learning to be more generous and preventing disadvantageous outcomes, a more complex profile than previously known. CONCLUSIONS: In conclusion, the present study provides a snapshot into sharing and fairness-related behaviors in WS, contributing to our understanding of the intriguing social-behavioral phenotype associated with this developmental disorder. En ligne : https://dx.doi.org/10.1186/s11689-024-09568-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575

Physiological and communicative emotional disconcordance in children on the autism spectrum / Emma FINKEL in Journal of Neurodevelopmental Disorders, 16 (2024)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 16 (2024) Titre : Physiological and communicative emotional disconcordance in children on the autism spectrum Type de document : texte imprimé Auteurs : Emma FINKEL, Auteur ; Eric SAH, Auteur ; McKenna SPAULDING, Auteur ; John D. HERRINGTON, Auteur ; Liza TOMCZUK, Auteur ; Aaron MASINO, Auteur ; Xueqin PANG, Auteur ; Anushua BHATTACHARYA, Auteur ; Darren HEDLEY, Auteur ; Yelena KUSHLEYEVA, Auteur ; Phoebe THOMSON, Auteur ; Natalie DOPPELT, Auteur ; Jessica TAN, Auteur ; Jeffrey PENNINGTON, Auteur ; Cheryl DISSANAYAKE, Auteur ; Christopher P. BONAFIDE, Auteur ; Heather J. NUSKE, Auteur Langues : Anglais (eng) Mots-clés : Humans  Autism Spectrum Disorder/physiopathology  Child  Male  Female  Child, Preschool  Emotions/physiology  Heart Rate/physiology  Stress, Psychological/physiopathology  Affective Symptoms/physiopathology  Communication  Arousal/physiology  Facial Expression  Autism  Emotional coherence  Emotional concordance  Heart rate  Stress communication Index. décimale : PER Périodiques Résumé : BACKGROUND: Individuals on the autism spectrum commonly have differences from non-autistic people in expressing their emotions using communicative behaviors, such as facial expressions. However, it is not yet clear if this reduced expressivity stems from reduced physiological reactivity in emotional contexts or if individuals react internally, but do not show these reactions externally to others. We hypothesized that autism is characterized by a discordance between in-the-moment internal psychophysiological arousal and external communicative expressions of emotion. METHODS: Forty-one children on the autism spectrum and 39 non-autistic, typically developing (TD) children of two age groups (2-4 and 8-12 years) participated in a low-level stress task whilst wearing a wireless electrocardiogram. Children's negative emotional expressions (facial, vocal, bodily) were coded following standardized protocols. Alexithymia traits were assessed using the Children's Alexithymia Measure with school-aged children only. Data analyses involved ANOVAs, correlations, and sensitivity analyses. RESULTS: There were no group differences in physiological arousal (heart rate) or in communicative expressions of stress to the stress task. For TD preschoolers, physiological arousal during the stress task was associated with vocal expressions and for TD school-aged children, they were associated with facial and bodily expressions. By contrast, for children on the autism spectrum, physiological arousal during the stress tasks was not associated with communicative expressions across age groups. CONCLUSIONS: Our findings suggest that children on the autism spectrum might experience emotional disconcordance, in that their physiological arousal does not align with their communicative expressions. Therefore, the internally experienced stress of children on the autism spectrum may be inadvertently missed by teachers and caregivers and, consequently, learning opportunities for teaching emotional communication and regulation may be also missed. Our results support the use of wearable biosensors to facilitate such interventions in children on the autism spectrum. En ligne : https://dx.doi.org/10.1186/s11689-024-09567-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576 [article] Physiological and communicative emotional disconcordance in children on the autism spectrum [texte imprimé] / Emma FINKEL, Auteur ; Eric SAH, Auteur ; McKenna SPAULDING, Auteur ; John D. HERRINGTON, Auteur ; Liza TOMCZUK, Auteur ; Aaron MASINO, Auteur ; Xueqin PANG, Auteur ; Anushua BHATTACHARYA, Auteur ; Darren HEDLEY, Auteur ; Yelena KUSHLEYEVA, Auteur ; Phoebe THOMSON, Auteur ; Natalie DOPPELT, Auteur ; Jessica TAN, Auteur ; Jeffrey PENNINGTON, Auteur ; Cheryl DISSANAYAKE, Auteur ; Christopher P. BONAFIDE, Auteur ; Heather J. NUSKE, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 16 (2024) Mots-clés : Humans  Autism Spectrum Disorder/physiopathology  Child  Male  Female  Child, Preschool  Emotions/physiology  Heart Rate/physiology  Stress, Psychological/physiopathology  Affective Symptoms/physiopathology  Communication  Arousal/physiology  Facial Expression  Autism  Emotional coherence  Emotional concordance  Heart rate  Stress communication Index. décimale : PER Périodiques Résumé : BACKGROUND: Individuals on the autism spectrum commonly have differences from non-autistic people in expressing their emotions using communicative behaviors, such as facial expressions. However, it is not yet clear if this reduced expressivity stems from reduced physiological reactivity in emotional contexts or if individuals react internally, but do not show these reactions externally to others. We hypothesized that autism is characterized by a discordance between in-the-moment internal psychophysiological arousal and external communicative expressions of emotion. METHODS: Forty-one children on the autism spectrum and 39 non-autistic, typically developing (TD) children of two age groups (2-4 and 8-12 years) participated in a low-level stress task whilst wearing a wireless electrocardiogram. Children's negative emotional expressions (facial, vocal, bodily) were coded following standardized protocols. Alexithymia traits were assessed using the Children's Alexithymia Measure with school-aged children only. Data analyses involved ANOVAs, correlations, and sensitivity analyses. RESULTS: There were no group differences in physiological arousal (heart rate) or in communicative expressions of stress to the stress task. For TD preschoolers, physiological arousal during the stress task was associated with vocal expressions and for TD school-aged children, they were associated with facial and bodily expressions. By contrast, for children on the autism spectrum, physiological arousal during the stress tasks was not associated with communicative expressions across age groups. CONCLUSIONS: Our findings suggest that children on the autism spectrum might experience emotional disconcordance, in that their physiological arousal does not align with their communicative expressions. Therefore, the internally experienced stress of children on the autism spectrum may be inadvertently missed by teachers and caregivers and, consequently, learning opportunities for teaching emotional communication and regulation may be also missed. Our results support the use of wearable biosensors to facilitate such interventions in children on the autism spectrum. En ligne : https://dx.doi.org/10.1186/s11689-024-09567-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576

Specific EEG resting state biomarkers in FXS and ASD / Mélodie PROTEAU-LEMIEUX in Journal of Neurodevelopmental Disorders, 16 (2024)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 16 (2024) Titre : Specific EEG resting state biomarkers in FXS and ASD Type de document : texte imprimé Auteurs : Mélodie PROTEAU-LEMIEUX, Auteur ; Inga Sophia KNOTH, Auteur ; Saeideh DAVOUDI, Auteur ; Charles-Olivier MARTIN, Auteur ; Anne-Marie BÉLANGER, Auteur ; Valérie FONTAINE, Auteur ; Valérie CÔTÉ, Auteur ; Kristian AGBOGBA, Auteur ; Keely VACHON, Auteur ; Kerri WHITLOCK, Auteur ; Hazel Maridith Barlahan BIAG, Auteur ; Angela John THURMAN, Auteur ; Cory ROSENFELT, Auteur ; Flora TASSONE, Auteur ; Julia FREI, Auteur ; Lucia CAPANO, Auteur ; Leonard ABBEDUTO, Auteur ; Sébastien JACQUEMONT, Auteur ; David HESSL, Auteur ; Randi Jenssen HAGERMAN, Auteur ; Andrea SCHNEIDER, Auteur ; Francois BOLDUC, Auteur ; Evdokia ANAGNOSTOU, Auteur ; Sarah LIPPE, Auteur Langues : Anglais (eng) Mots-clés : Humans  Autism Spectrum Disorder/physiopathology/complications  Male  Female  Child  Adolescent  Young Adult  Electroencephalography  Fragile X Syndrome/physiopathology/complications  Child, Preschool  Biomarkers  Adult  Alpha peak frequency  Autism spectrum disorder  Cognition  Fragile X syndrome  Multi scale entropy  Neurodevelopment  Power spectral density  Resting state EEG  Signal complexity Index. décimale : PER Périodiques Résumé : BACKGROUND: Fragile X syndrome (FXS) and autism spectrum disorder (ASD) are neurodevelopmental conditions that often have a substantial impact on daily functioning and quality of life. FXS is the most common cause of inherited intellectual disability (ID) and the most common monogenetic cause of ASD. Previous literature has shown that electrophysiological activity measured by electroencephalogram (EEG) during resting state is perturbated in FXS and ASD. However, whether electrophysiological profiles of participants with FXS and ASD are similar remains unclear. The aim of this study was to compare EEG alterations found in these two clinical populations presenting varying degrees of cognitive and behavioral impairments. METHODS: Resting state EEG signal complexity, alpha peak frequency (APF) and power spectral density (PSD) were compared between 47 participants with FXS (aged between 5-20), 49 participants with ASD (aged between 6-17), and 52 neurotypical (NT) controls with a similar age distribution using MANCOVAs with age as covariate when appropriate. MANCOVAs controlling for age, when appropriate, and nonverbal intelligence quotient (NVIQ) score were subsequently performed to determine the impact of cognitive functioning on EEG alterations. RESULTS: Our results showed that FXS participants manifested decreased signal complexity and APF compared to ASD participants and NT controls, as well as altered power in the theta, alpha and low gamma frequency bands. ASD participants showed exaggerated beta power compared to FXS participants and NT controls, as well as enhanced low and high gamma power compared to NT controls. However, ASD participants did not manifest altered signal complexity or APF. Furthermore, when controlling for NVIQ, results of decreased complexity in higher scales and lower APF in FXS participants compared to NT controls and ASD participants were not replicated. CONCLUSIONS: These findings suggest that signal complexity and APF might reflect cognitive functioning, while altered power in the low gamma frequency band might be associated with neurodevelopmental conditions, particularly FXS and ASD. En ligne : https://dx.doi.org/10.1186/s11689-024-09570-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576 [article] Specific EEG resting state biomarkers in FXS and ASD [texte imprimé] / Mélodie PROTEAU-LEMIEUX, Auteur ; Inga Sophia KNOTH, Auteur ; Saeideh DAVOUDI, Auteur ; Charles-Olivier MARTIN, Auteur ; Anne-Marie BÉLANGER, Auteur ; Valérie FONTAINE, Auteur ; Valérie CÔTÉ, Auteur ; Kristian AGBOGBA, Auteur ; Keely VACHON, Auteur ; Kerri WHITLOCK, Auteur ; Hazel Maridith Barlahan BIAG, Auteur ; Angela John THURMAN, Auteur ; Cory ROSENFELT, Auteur ; Flora TASSONE, Auteur ; Julia FREI, Auteur ; Lucia CAPANO, Auteur ; Leonard ABBEDUTO, Auteur ; Sébastien JACQUEMONT, Auteur ; David HESSL, Auteur ; Randi Jenssen HAGERMAN, Auteur ; Andrea SCHNEIDER, Auteur ; Francois BOLDUC, Auteur ; Evdokia ANAGNOSTOU, Auteur ; Sarah LIPPE, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 16 (2024) Mots-clés : Humans  Autism Spectrum Disorder/physiopathology/complications  Male  Female  Child  Adolescent  Young Adult  Electroencephalography  Fragile X Syndrome/physiopathology/complications  Child, Preschool  Biomarkers  Adult  Alpha peak frequency  Autism spectrum disorder  Cognition  Fragile X syndrome  Multi scale entropy  Neurodevelopment  Power spectral density  Resting state EEG  Signal complexity Index. décimale : PER Périodiques Résumé : BACKGROUND: Fragile X syndrome (FXS) and autism spectrum disorder (ASD) are neurodevelopmental conditions that often have a substantial impact on daily functioning and quality of life. FXS is the most common cause of inherited intellectual disability (ID) and the most common monogenetic cause of ASD. Previous literature has shown that electrophysiological activity measured by electroencephalogram (EEG) during resting state is perturbated in FXS and ASD. However, whether electrophysiological profiles of participants with FXS and ASD are similar remains unclear. The aim of this study was to compare EEG alterations found in these two clinical populations presenting varying degrees of cognitive and behavioral impairments. METHODS: Resting state EEG signal complexity, alpha peak frequency (APF) and power spectral density (PSD) were compared between 47 participants with FXS (aged between 5-20), 49 participants with ASD (aged between 6-17), and 52 neurotypical (NT) controls with a similar age distribution using MANCOVAs with age as covariate when appropriate. MANCOVAs controlling for age, when appropriate, and nonverbal intelligence quotient (NVIQ) score were subsequently performed to determine the impact of cognitive functioning on EEG alterations. RESULTS: Our results showed that FXS participants manifested decreased signal complexity and APF compared to ASD participants and NT controls, as well as altered power in the theta, alpha and low gamma frequency bands. ASD participants showed exaggerated beta power compared to FXS participants and NT controls, as well as enhanced low and high gamma power compared to NT controls. However, ASD participants did not manifest altered signal complexity or APF. Furthermore, when controlling for NVIQ, results of decreased complexity in higher scales and lower APF in FXS participants compared to NT controls and ASD participants were not replicated. CONCLUSIONS: These findings suggest that signal complexity and APF might reflect cognitive functioning, while altered power in the low gamma frequency band might be associated with neurodevelopmental conditions, particularly FXS and ASD. En ligne : https://dx.doi.org/10.1186/s11689-024-09570-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576

Project GIVE: using a virtual genetics service platform to reduce health inequities and improve access to genomic care in an underserved region of Texas / Blake VUOCOLO in Journal of Neurodevelopmental Disorders, 16 (2024)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 16 (2024) Titre : Project GIVE: using a virtual genetics service platform to reduce health inequities and improve access to genomic care in an underserved region of Texas Type de document : texte imprimé Auteurs : Blake VUOCOLO, Auteur ; Roberta SIERRA, Auteur ; Daniel BROOKS, Auteur ; Christopher HOLDER, Auteur ; Lauren URBANSKI, Auteur ; Keila RODRIGUEZ, Auteur ; Jose David GAMEZ, Auteur ; Surya Narayan MULUKUTLA, Auteur ; Ana HERNANDEZ, Auteur ; Alberto ALLEGRE, Auteur ; Humberto HIDALGO, Auteur ; Sarah RODRIGUEZ, Auteur ; Sandy MAGALLAN, Auteur ; Jeremy GIBSON, Auteur ; Juan Carlos BERNINI, Auteur ; Melanie WATSON, Auteur ; Robert NELSON, Auteur ; Lizbeth MELLIN-SANCHEZ, Auteur ; Nancy GARCIA, Auteur ; Lori BERRY, Auteur ; Hongzheng DAI, Auteur ; Claudia SOLER-ALFONSO, Auteur ; Kent CARTER, Auteur ; Brendan LEE, Auteur ; Seema R. LALANI, Auteur Langues : Anglais (eng) Mots-clés : Adolescent  Child  Female  Humans  Male  Electronic Health Records  Genetic Services/organization & administration  Genomics  Health Inequities  Health Services Accessibility/organization & administration  Healthcare Disparities  Medically Underserved Area  Telemedicine  Texas  Consultagene  Genome sequencing  Medically underserved population  Virtual access to genomics Index. décimale : PER Périodiques Résumé : BACKGROUND: The utilization of genomic information to improve health outcomes is progressively becoming more common in clinical practice. Nonetheless, disparities persist in accessing genetic services among ethnic minorities, individuals with low socioeconomic status, and other vulnerable populations. The Rio Grande Valley (RGV) at the Texas-Mexico border is predominantly Hispanic/Latino with a high poverty rate and very limited access to genetic services. Funded by the National Center for Advancing Translational Sciences, Project GIVE (Genetic Inclusion by Virtual Evaluation) was launched in 2022 to reduce the time to diagnosis and increase provider knowledge of genomics in this region, with the goal of improving pediatric health outcomes. We describe our experience of establishing a virtual pediatric genomic service in this region to expeditiously identify, recruit, and evaluate pediatric patients with undiagnosed diseases. METHODS: We have utilized an innovative electronic health record (EHR) agnostic virtual telehealth and educational platform called Consultagene to receive referrals from healthcare providers in the RGV. Using this portal, genetic services, including virtual evaluation and genome sequencing (GS), are being delivered to children with rare diseases. The study has also integrated effective methods to involve and educate community providers through in-person meetings and Continuing Professional Education (CPE) events. RESULTS: The recruitment efforts have proven highly successful with the utilization of Consultagene in this medically underserved region. The project's ongoing engagement efforts with local healthcare providers have resulted in progressively more referrals to the study over time, thus improving inclusion and access to genomic care in the RGV. Additionally, the curated CPE content has been well received by healthcare providers in the region. CONCLUSIONS: Project GIVE study has allowed advanced genetic evaluation and delivery of GS through the virtual Consultagene portal, effectively circumventing the recognized socioeconomic and logistical barriers to accessing genetic services within this border community. En ligne : https://dx.doi.org/10.1186/s11689-024-09560-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576 [article] Project GIVE: using a virtual genetics service platform to reduce health inequities and improve access to genomic care in an underserved region of Texas [texte imprimé] / Blake VUOCOLO, Auteur ; Roberta SIERRA, Auteur ; Daniel BROOKS, Auteur ; Christopher HOLDER, Auteur ; Lauren URBANSKI, Auteur ; Keila RODRIGUEZ, Auteur ; Jose David GAMEZ, Auteur ; Surya Narayan MULUKUTLA, Auteur ; Ana HERNANDEZ, Auteur ; Alberto ALLEGRE, Auteur ; Humberto HIDALGO, Auteur ; Sarah RODRIGUEZ, Auteur ; Sandy MAGALLAN, Auteur ; Jeremy GIBSON, Auteur ; Juan Carlos BERNINI, Auteur ; Melanie WATSON, Auteur ; Robert NELSON, Auteur ; Lizbeth MELLIN-SANCHEZ, Auteur ; Nancy GARCIA, Auteur ; Lori BERRY, Auteur ; Hongzheng DAI, Auteur ; Claudia SOLER-ALFONSO, Auteur ; Kent CARTER, Auteur ; Brendan LEE, Auteur ; Seema R. LALANI, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 16 (2024) Mots-clés : Adolescent  Child  Female  Humans  Male  Electronic Health Records  Genetic Services/organization & administration  Genomics  Health Inequities  Health Services Accessibility/organization & administration  Healthcare Disparities  Medically Underserved Area  Telemedicine  Texas  Consultagene  Genome sequencing  Medically underserved population  Virtual access to genomics Index. décimale : PER Périodiques Résumé : BACKGROUND: The utilization of genomic information to improve health outcomes is progressively becoming more common in clinical practice. Nonetheless, disparities persist in accessing genetic services among ethnic minorities, individuals with low socioeconomic status, and other vulnerable populations. The Rio Grande Valley (RGV) at the Texas-Mexico border is predominantly Hispanic/Latino with a high poverty rate and very limited access to genetic services. Funded by the National Center for Advancing Translational Sciences, Project GIVE (Genetic Inclusion by Virtual Evaluation) was launched in 2022 to reduce the time to diagnosis and increase provider knowledge of genomics in this region, with the goal of improving pediatric health outcomes. We describe our experience of establishing a virtual pediatric genomic service in this region to expeditiously identify, recruit, and evaluate pediatric patients with undiagnosed diseases. METHODS: We have utilized an innovative electronic health record (EHR) agnostic virtual telehealth and educational platform called Consultagene to receive referrals from healthcare providers in the RGV. Using this portal, genetic services, including virtual evaluation and genome sequencing (GS), are being delivered to children with rare diseases. The study has also integrated effective methods to involve and educate community providers through in-person meetings and Continuing Professional Education (CPE) events. RESULTS: The recruitment efforts have proven highly successful with the utilization of Consultagene in this medically underserved region. The project's ongoing engagement efforts with local healthcare providers have resulted in progressively more referrals to the study over time, thus improving inclusion and access to genomic care in the RGV. Additionally, the curated CPE content has been well received by healthcare providers in the region. CONCLUSIONS: Project GIVE study has allowed advanced genetic evaluation and delivery of GS through the virtual Consultagene portal, effectively circumventing the recognized socioeconomic and logistical barriers to accessing genetic services within this border community. En ligne : https://dx.doi.org/10.1186/s11689-024-09560-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576

Commonly used genomic arrays may lose information due to imperfect coverage of discovered variants for autism spectrum disorder / Michael YAO in Journal of Neurodevelopmental Disorders, 16 (2024)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 16 (2024) Titre : Commonly used genomic arrays may lose information due to imperfect coverage of discovered variants for autism spectrum disorder Type de document : texte imprimé Auteurs : Michael YAO, Auteur ; Jason DANIELS, Auteur ; Luke GROSVENOR, Auteur ; Valerie MORRILL, Auteur ; Jason I. FEINBERG, Auteur ; Kelly M. BAKULSKI, Auteur ; Joseph PIVEN, Auteur ; Heather C. HAZLETT, Auteur ; Mark D. SHEN, Auteur ; Craig NEWSCHAFFER, Auteur ; Kristen LYALL, Auteur ; Rebecca J. SCHMIDT, Auteur ; Irva HERTZ-PICCIOTTO, Auteur ; Lisa A. CROEN, Auteur ; M. Daniele FALLIN, Auteur ; Christine LADD-ACOSTA, Auteur ; Heather VOLK, Auteur ; Kelly BENKE, Auteur Langues : Anglais (eng) Mots-clés : Humans  Autism Spectrum Disorder/genetics  Genome-Wide Association Study  Multifactorial Inheritance  Genetic Predisposition to Disease  Male  Female  Genotype  Polymorphism, Single Nucleotide  Autism spectrum disorder (ASD)  Information Loss  Polygenic scores (PGS) Index. décimale : PER Périodiques Résumé : BACKGROUND: Common genetic variation has been shown to account for a large proportion of ASD heritability. Polygenic scores generated for autism spectrum disorder (ASD-PGS) using the most recent discovery data, however, explain less variance than expected, despite reporting significant associations with ASD and other ASD-related traits. Here, we investigate the extent to which information loss on the target study genome-wide microarray weakens the predictive power of the ASD-PGS. METHODS: We studied genotype data from three cohorts of individuals with high familial liability for ASD: The Early Autism Risk Longitudinal Investigation (EARLI), Markers of Autism Risk in Babies-Learning Early Signs (MARBLES), and the Infant Brain Imaging Study (IBIS), and one population-based sample, Study to Explore Early Development Phase I (SEED I). Individuals were genotyped on different microarrays ranging from 1 to 5 million sites. Coverage of the top 88 genome-wide suggestive variants implicated in the discovery was evaluated in all four studies before quality control (QC), after QC, and after imputation. We then created a novel method to assess coverage on the resulting ASD-PGS by correlating a PGS informed by a comprehensive list of variants to a PGS informed with only the available variants. RESULTS: Prior to imputations, None of the four cohorts directly or indirectly covered all 88 variants among the measured genotype data. After imputation, the two cohorts genotyped on 5-million arrays reached full coverage. Analysis of our novel metric showed generally high genome-wide coverage across all four studies, but a greater number of SNPs informing the ASD-PGS did not result in improved coverage according to our metric. LIMITATIONS: The studies we analyzed contained modest sample sizes. Our analyses included microarrays with more than 1-million sites, so smaller arrays such as Global Diversity and the PsychArray were not included. Our PGS metric for ASD is only generalizable to samples of European ancestries, though the coverage metric can be computed for traits that have sufficiently large-sized discovery findings in other ancestries. CONCLUSIONS: We show that commonly used genotyping microarrays have incomplete coverage for common ASD variants, and imputation cannot always recover lost information. Our novel metric provides an intuitive approach to reporting information loss in PGS and an alternative to reporting the total number of SNPs included in the PGS. While applied only to ASD here, this metric can easily be used with other traits. En ligne : https://dx.doi.org/10.1186/s11689-024-09571-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576 [article] Commonly used genomic arrays may lose information due to imperfect coverage of discovered variants for autism spectrum disorder [texte imprimé] / Michael YAO, Auteur ; Jason DANIELS, Auteur ; Luke GROSVENOR, Auteur ; Valerie MORRILL, Auteur ; Jason I. FEINBERG, Auteur ; Kelly M. BAKULSKI, Auteur ; Joseph PIVEN, Auteur ; Heather C. HAZLETT, Auteur ; Mark D. SHEN, Auteur ; Craig NEWSCHAFFER, Auteur ; Kristen LYALL, Auteur ; Rebecca J. SCHMIDT, Auteur ; Irva HERTZ-PICCIOTTO, Auteur ; Lisa A. CROEN, Auteur ; M. Daniele FALLIN, Auteur ; Christine LADD-ACOSTA, Auteur ; Heather VOLK, Auteur ; Kelly BENKE, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 16 (2024) Mots-clés : Humans  Autism Spectrum Disorder/genetics  Genome-Wide Association Study  Multifactorial Inheritance  Genetic Predisposition to Disease  Male  Female  Genotype  Polymorphism, Single Nucleotide  Autism spectrum disorder (ASD)  Information Loss  Polygenic scores (PGS) Index. décimale : PER Périodiques Résumé : BACKGROUND: Common genetic variation has been shown to account for a large proportion of ASD heritability. Polygenic scores generated for autism spectrum disorder (ASD-PGS) using the most recent discovery data, however, explain less variance than expected, despite reporting significant associations with ASD and other ASD-related traits. Here, we investigate the extent to which information loss on the target study genome-wide microarray weakens the predictive power of the ASD-PGS. METHODS: We studied genotype data from three cohorts of individuals with high familial liability for ASD: The Early Autism Risk Longitudinal Investigation (EARLI), Markers of Autism Risk in Babies-Learning Early Signs (MARBLES), and the Infant Brain Imaging Study (IBIS), and one population-based sample, Study to Explore Early Development Phase I (SEED I). Individuals were genotyped on different microarrays ranging from 1 to 5 million sites. Coverage of the top 88 genome-wide suggestive variants implicated in the discovery was evaluated in all four studies before quality control (QC), after QC, and after imputation. We then created a novel method to assess coverage on the resulting ASD-PGS by correlating a PGS informed by a comprehensive list of variants to a PGS informed with only the available variants. RESULTS: Prior to imputations, None of the four cohorts directly or indirectly covered all 88 variants among the measured genotype data. After imputation, the two cohorts genotyped on 5-million arrays reached full coverage. Analysis of our novel metric showed generally high genome-wide coverage across all four studies, but a greater number of SNPs informing the ASD-PGS did not result in improved coverage according to our metric. LIMITATIONS: The studies we analyzed contained modest sample sizes. Our analyses included microarrays with more than 1-million sites, so smaller arrays such as Global Diversity and the PsychArray were not included. Our PGS metric for ASD is only generalizable to samples of European ancestries, though the coverage metric can be computed for traits that have sufficiently large-sized discovery findings in other ancestries. CONCLUSIONS: We show that commonly used genotyping microarrays have incomplete coverage for common ASD variants, and imputation cannot always recover lost information. Our novel metric provides an intuitive approach to reporting information loss in PGS and an alternative to reporting the total number of SNPs included in the PGS. While applied only to ASD here, this metric can easily be used with other traits. En ligne : https://dx.doi.org/10.1186/s11689-024-09571-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576

Association between rare, genetic variants linked to autism and ultrasonography fetal anomalies in children with autism spectrum disorder / Ohad REGEV in Journal of Neurodevelopmental Disorders, 16 (2024)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 16 (2024) Titre : Association between rare, genetic variants linked to autism and ultrasonography fetal anomalies in children with autism spectrum disorder Type de document : texte imprimé Auteurs : Ohad REGEV, Auteur ; Apurba SHIL, Auteur ; Tal BRONSHTEIN, Auteur ; Amnon HADAR, Auteur ; Gal MEIRI, Auteur ; Dikla ZIGDON, Auteur ; Analya MICHAELOVSKI, Auteur ; Reli HERSHKOVITZ, Auteur ; Idan MENASHE, Auteur Langues : Anglais (eng) Mots-clés : Humans  Autism Spectrum Disorder/genetics/diagnostic imaging  Female  Male  Ultrasonography, Prenatal  Child  Exome Sequencing  Pregnancy  Cross-Sectional Studies  Child, Preschool  Genetic Variation  Genetic Predisposition to Disease  Autism spectrum disorder  Congenital anomalies  Fetal development  Genetic mutations  Prenatal ultrasound  Ultrasonography fetal anomalies  Whole-exome sequencing Index. décimale : PER Périodiques Résumé : BACKGROUND: Recent evidence suggests that certain fetal anomalies detected upon prenatal ultrasound screenings are associated with autism spectrum disorder (ASD). In this cross-sectional study, we aimed to identify genetic variants associated with fetal ultrasound anomalies (UFAs) in children with ASD. METHODS: The study included all children with ASD who are registered in the database of the Azrieli National Center of Autism and Neurodevelopment and for whom both prenatal ultrasound and whole exome sequencing (WES) data were available. We applied our in-house integrative bioinformatics pipeline, AutScore, to these WES data to prioritize rare, gene-disrupting variants (GDVs) probably contributing to ASD susceptibily. Univariate statistics and multivariable regression were used to assess the associations between UFAs and GDVs identified in these children. RESULTS: The study sample comprised 126 children, of whom 43 (34.1%) had at least one UFA detected in the prenatal ultrasound scan. A total of 87 candidate ASD genetic variants were detected in 60 children, with 24 (40%) children carrying multiple variants. Children with UFAs were more likely to have loss-of-function (LoF) mutations (aOR = 2.55, 95%CI: 1.13-5.80). This association was particularly noticeable when children with structural anomalies or children with UFAs in their head and brain scans were compared to children without UFAs (any mutation: aOR = 8.28, 95%CI: 2.29-30.01; LoF: aOR = 5.72, 95%CI: 2.08-15.71 and any mutation: aOR = 6.39, 95%CI: 1.34-30.47; LoF: aOR = 4.50, 95%CI: 1.32-15.35, respectively). GDVs associated with UFAs were enriched in genes highly expressed across all tissues (aOR = 2.76, 95%CI: 1.14-6.68). There was a weak, but significant, correlation between the number of mutations and the number of abnormalities detected in the same children (r = 0.21, P = 0.016). CONCLUSIONS: The results provide valuable insights into the potential genetic basis of prenatal organogenesis abnormalities associated with ASD and shed light on the complex interplay between genetic factors and fetal development. En ligne : https://dx.doi.org/10.1186/s11689-024-09573-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576 [article] Association between rare, genetic variants linked to autism and ultrasonography fetal anomalies in children with autism spectrum disorder [texte imprimé] / Ohad REGEV, Auteur ; Apurba SHIL, Auteur ; Tal BRONSHTEIN, Auteur ; Amnon HADAR, Auteur ; Gal MEIRI, Auteur ; Dikla ZIGDON, Auteur ; Analya MICHAELOVSKI, Auteur ; Reli HERSHKOVITZ, Auteur ; Idan MENASHE, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 16 (2024) Mots-clés : Humans  Autism Spectrum Disorder/genetics/diagnostic imaging  Female  Male  Ultrasonography, Prenatal  Child  Exome Sequencing  Pregnancy  Cross-Sectional Studies  Child, Preschool  Genetic Variation  Genetic Predisposition to Disease  Autism spectrum disorder  Congenital anomalies  Fetal development  Genetic mutations  Prenatal ultrasound  Ultrasonography fetal anomalies  Whole-exome sequencing Index. décimale : PER Périodiques Résumé : BACKGROUND: Recent evidence suggests that certain fetal anomalies detected upon prenatal ultrasound screenings are associated with autism spectrum disorder (ASD). In this cross-sectional study, we aimed to identify genetic variants associated with fetal ultrasound anomalies (UFAs) in children with ASD. METHODS: The study included all children with ASD who are registered in the database of the Azrieli National Center of Autism and Neurodevelopment and for whom both prenatal ultrasound and whole exome sequencing (WES) data were available. We applied our in-house integrative bioinformatics pipeline, AutScore, to these WES data to prioritize rare, gene-disrupting variants (GDVs) probably contributing to ASD susceptibily. Univariate statistics and multivariable regression were used to assess the associations between UFAs and GDVs identified in these children. RESULTS: The study sample comprised 126 children, of whom 43 (34.1%) had at least one UFA detected in the prenatal ultrasound scan. A total of 87 candidate ASD genetic variants were detected in 60 children, with 24 (40%) children carrying multiple variants. Children with UFAs were more likely to have loss-of-function (LoF) mutations (aOR = 2.55, 95%CI: 1.13-5.80). This association was particularly noticeable when children with structural anomalies or children with UFAs in their head and brain scans were compared to children without UFAs (any mutation: aOR = 8.28, 95%CI: 2.29-30.01; LoF: aOR = 5.72, 95%CI: 2.08-15.71 and any mutation: aOR = 6.39, 95%CI: 1.34-30.47; LoF: aOR = 4.50, 95%CI: 1.32-15.35, respectively). GDVs associated with UFAs were enriched in genes highly expressed across all tissues (aOR = 2.76, 95%CI: 1.14-6.68). There was a weak, but significant, correlation between the number of mutations and the number of abnormalities detected in the same children (r = 0.21, P = 0.016). CONCLUSIONS: The results provide valuable insights into the potential genetic basis of prenatal organogenesis abnormalities associated with ASD and shed light on the complex interplay between genetic factors and fetal development. En ligne : https://dx.doi.org/10.1186/s11689-024-09573-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576

Clinical, developmental and serotonemia phenotyping of a sample of 70 Italian patients with Phelan-McDermid Syndrome / Lisa ASTA in Journal of Neurodevelopmental Disorders, 16 (2024)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 16 (2024) Titre : Clinical, developmental and serotonemia phenotyping of a sample of 70 Italian patients with Phelan-McDermid Syndrome Type de document : texte imprimé Auteurs : Lisa ASTA, Auteur ; Arianna RICCIARDELLO, Auteur ; Francesca CUCINOTTA, Auteur ; Laura TURRIZIANI, Auteur ; Maria BONCODDO, Auteur ; Fabiana BELLOMO, Auteur ; Jessica ANGELINI, Auteur ; Martina GNAZZO, Auteur ; Giulia SCANDOLO, Auteur ; Giulia PISANÒ, Auteur ; Francesco PELAGATTI, Auteur ; Fethia CHEHBANI, Auteur ; Michela CAMIA, Auteur ; Antonio M. PERSICO, Auteur Langues : Anglais (eng) Mots-clés : Humans  Male  Female  Italy  Phenotype  Child  Chromosome Deletion  Chromosomes, Human, Pair 22/genetics  Adolescent  Child, Preschool  Adult  Young Adult  Chromosome Disorders/physiopathology/complications/blood  Autism Spectrum Disorder/blood/physiopathology/complications  Nerve Tissue Proteins/blood/genetics  Intellectual Disability/etiology/blood  Shank3  22q13 deletion syndrome  Autism spectrum disorder  Hyperserotonemia  Intellectual disability  Macrocephaly  Neuroinflammation  Phelan-McDermid syndrome  Phenotype  Serotonin Index. décimale : PER Périodiques Résumé : BACKGROUND: Phelan-McDermid syndrome (PMS) is caused by monoallelic loss or inactivation at the SHANK3 gene, located in human chr 22q13.33, and is often associated with Autism Spectrum Disorder (ASD). OBJECTIVES: To assess the clinical and developmental phenotype in a novel sample of PMS patients, including for the first time auxometric trajectories and serotonin blood levels. METHODS: 70 Italian PMS patients were clinically characterized by parental report, direct medical observation, and a thorough medical and psychodiagnostic protocol. Serotonin levels were measured in platelet-rich plasma by HPLC. RESULTS: Our sample includes 59 (84.3%) cases with chr. 22q13 terminal deletion, 5 (7.1%) disruptive SHANK3 mutations, and 6 (8.6%) ring chromosome 22. Intellectual disability was present in 69 (98.6%) cases, motor coordination disorder in 65 (92.9%), ASD in 20 (28.6%), and lifetime bipolar disorder in 12 (17.1%). Prenatal and postnatal complications were frequent (22.9%-48.6%). Expressive and receptive language were absent in 49 (70.0%) and 19 (27.1%) cases, respectively. Decreased pain sensitivity was reported in 56 (80.0%), hyperactivity in 49 (80.3%), abnormal sleep in 45 (64.3%), congenital dysmorphisms in 35 (58.3%), chronic stool abnormalities and especially constipation in 29 (41.4%). Parents reported noticing behavioral abnormalities during early childhood immediately after an infective episode in 34 (48.6%) patients. Brain MRI anomalies were observed in 53 (79.1%), EEG abnormalities in 16 (23.5%), kidney and upper urinary tract malformations in 18 (28.1%). Two novel phenotypes emerged: (a) a subgroup of 12/44 (27.3%) PMS patients displays smaller head size at enrollment (mean age 11.8 yrs) compared to their first year of neonatal life, documenting a deceleration of head growth (p < 0.001); (b) serotonin blood levels are significantly lower in 21 PMS patients compared to their 21 unaffected siblings (P < 0.05), and to 432 idiopathic ASD cases (p < 0.001). CONCLUSIONS: We replicate and extend the description of many phenotypic characteristics present in PMS, and report two novel features: (1) growth trajectories are variable and head growth appears to slow down during childhood in some PMS patients; (2) serotonin blood levels are decreased in PMS, and not increased as frequently occurs in ASD. Further investigations of these novel features are under way. En ligne : https://dx.doi.org/10.1186/s11689-024-09572-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576 [article] Clinical, developmental and serotonemia phenotyping of a sample of 70 Italian patients with Phelan-McDermid Syndrome [texte imprimé] / Lisa ASTA, Auteur ; Arianna RICCIARDELLO, Auteur ; Francesca CUCINOTTA, Auteur ; Laura TURRIZIANI, Auteur ; Maria BONCODDO, Auteur ; Fabiana BELLOMO, Auteur ; Jessica ANGELINI, Auteur ; Martina GNAZZO, Auteur ; Giulia SCANDOLO, Auteur ; Giulia PISANÒ, Auteur ; Francesco PELAGATTI, Auteur ; Fethia CHEHBANI, Auteur ; Michela CAMIA, Auteur ; Antonio M. PERSICO, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 16 (2024) Mots-clés : Humans  Male  Female  Italy  Phenotype  Child  Chromosome Deletion  Chromosomes, Human, Pair 22/genetics  Adolescent  Child, Preschool  Adult  Young Adult  Chromosome Disorders/physiopathology/complications/blood  Autism Spectrum Disorder/blood/physiopathology/complications  Nerve Tissue Proteins/blood/genetics  Intellectual Disability/etiology/blood  Shank3  22q13 deletion syndrome  Autism spectrum disorder  Hyperserotonemia  Intellectual disability  Macrocephaly  Neuroinflammation  Phelan-McDermid syndrome  Phenotype  Serotonin Index. décimale : PER Périodiques Résumé : BACKGROUND: Phelan-McDermid syndrome (PMS) is caused by monoallelic loss or inactivation at the SHANK3 gene, located in human chr 22q13.33, and is often associated with Autism Spectrum Disorder (ASD). OBJECTIVES: To assess the clinical and developmental phenotype in a novel sample of PMS patients, including for the first time auxometric trajectories and serotonin blood levels. METHODS: 70 Italian PMS patients were clinically characterized by parental report, direct medical observation, and a thorough medical and psychodiagnostic protocol. Serotonin levels were measured in platelet-rich plasma by HPLC. RESULTS: Our sample includes 59 (84.3%) cases with chr. 22q13 terminal deletion, 5 (7.1%) disruptive SHANK3 mutations, and 6 (8.6%) ring chromosome 22. Intellectual disability was present in 69 (98.6%) cases, motor coordination disorder in 65 (92.9%), ASD in 20 (28.6%), and lifetime bipolar disorder in 12 (17.1%). Prenatal and postnatal complications were frequent (22.9%-48.6%). Expressive and receptive language were absent in 49 (70.0%) and 19 (27.1%) cases, respectively. Decreased pain sensitivity was reported in 56 (80.0%), hyperactivity in 49 (80.3%), abnormal sleep in 45 (64.3%), congenital dysmorphisms in 35 (58.3%), chronic stool abnormalities and especially constipation in 29 (41.4%). Parents reported noticing behavioral abnormalities during early childhood immediately after an infective episode in 34 (48.6%) patients. Brain MRI anomalies were observed in 53 (79.1%), EEG abnormalities in 16 (23.5%), kidney and upper urinary tract malformations in 18 (28.1%). Two novel phenotypes emerged: (a) a subgroup of 12/44 (27.3%) PMS patients displays smaller head size at enrollment (mean age 11.8 yrs) compared to their first year of neonatal life, documenting a deceleration of head growth (p < 0.001); (b) serotonin blood levels are significantly lower in 21 PMS patients compared to their 21 unaffected siblings (P < 0.05), and to 432 idiopathic ASD cases (p < 0.001). CONCLUSIONS: We replicate and extend the description of many phenotypic characteristics present in PMS, and report two novel features: (1) growth trajectories are variable and head growth appears to slow down during childhood in some PMS patients; (2) serotonin blood levels are decreased in PMS, and not increased as frequently occurs in ASD. Further investigations of these novel features are under way. En ligne : https://dx.doi.org/10.1186/s11689-024-09572-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576

X- vs. Y-chromosome influences on human behavior: a deep phenotypic comparison of psychopathology in XXY and XYY syndromes / Lukas SCHAFFER in Journal of Neurodevelopmental Disorders, 16 (2024)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 16 (2024) Titre : X- vs. Y-chromosome influences on human behavior: a deep phenotypic comparison of psychopathology in XXY and XYY syndromes Type de document : texte imprimé Auteurs : Lukas SCHAFFER, Auteur ; Srishti RAU, Auteur ; Isabella G. LARSEN, Auteur ; Liv CLASEN, Auteur ; Allysa WARLING, Auteur ; Ethan T. WHITMAN, Auteur ; Ajay NADIG, Auteur ; Cassidy MCDERMOTT, Auteur ; Anastasia XENOPHONTOS, Auteur ; Kathleen WILSON, Auteur ; Jonathan BLUMENTHAL, Auteur ; Erin TORRES, Auteur ; Armin RAZNAHAN, Auteur Langues : Anglais (eng) Mots-clés : Humans  Male  Female  Klinefelter Syndrome/genetics/diagnosis  Adult  Phenotype  XYY Karyotype/genetics  Adolescent  Chromosomes, Human, Y/genetics  Mental Disorders/genetics/diagnosis  Young Adult  Chromosomes, Human, X/genetics  Child  Middle Aged Index. décimale : PER Périodiques Résumé : BACKGROUND: Do different genetic disorders impart different psychiatric risk profiles? This question has major implications for biological and translational aspects of psychiatry, but has been difficult to tackle given limited access to shared batteries of fine-grained clinical data across genetic disorders. METHODS: Using a new suite of generalizable analytic approaches, we examine gold-standard diagnostic ratings, scores on 66 dimensional measures of psychopathology, and measures of cognition and functioning in two different sex chromosome aneuploidies (SCAs)-Klinefelter (XXY/KS) and XYY syndrome (n = 102 and 64 vs. n = 74 and 60 matched XY controls, total n = 300). We focus on SCAs for their high collective prevalence, informativeness regarding differential X- vs. Y-chromosome effects, and potential relevance for normative sex differences. RESULTS: We show that XXY/KS elevates rates for most psychiatric diagnoses as previously reported for XYY, but disproportionately so for anxiety disorders. Fine-mapping across all 66 traits provides a detailed profile of psychopathology in XXY/KS which is strongly correlated with that of XYY (r = .75 across traits) and robust to ascertainment biases, but reveals: (i) a greater penetrance of XYY than KS/XXY for most traits except mood/anxiety problems, and (ii) a disproportionate impact of XYY vs. XXY/KS on social problems. XXY/KS and XYY showed a similar coupling of psychopathology with adaptive function and caregiver strain, but not IQ. CONCLUSIONS: This work provides new tools for deep-phenotypic comparisons of genetic disorders in psychiatry and uses these to detail unique and shared effects of the X- and Y-chromosome on human behavior. En ligne : https://dx.doi.org/10.1186/s11689-024-09574-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576 [article] X- vs. Y-chromosome influences on human behavior: a deep phenotypic comparison of psychopathology in XXY and XYY syndromes [texte imprimé] / Lukas SCHAFFER, Auteur ; Srishti RAU, Auteur ; Isabella G. LARSEN, Auteur ; Liv CLASEN, Auteur ; Allysa WARLING, Auteur ; Ethan T. WHITMAN, Auteur ; Ajay NADIG, Auteur ; Cassidy MCDERMOTT, Auteur ; Anastasia XENOPHONTOS, Auteur ; Kathleen WILSON, Auteur ; Jonathan BLUMENTHAL, Auteur ; Erin TORRES, Auteur ; Armin RAZNAHAN, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 16 (2024) Mots-clés : Humans  Male  Female  Klinefelter Syndrome/genetics/diagnosis  Adult  Phenotype  XYY Karyotype/genetics  Adolescent  Chromosomes, Human, Y/genetics  Mental Disorders/genetics/diagnosis  Young Adult  Chromosomes, Human, X/genetics  Child  Middle Aged Index. décimale : PER Périodiques Résumé : BACKGROUND: Do different genetic disorders impart different psychiatric risk profiles? This question has major implications for biological and translational aspects of psychiatry, but has been difficult to tackle given limited access to shared batteries of fine-grained clinical data across genetic disorders. METHODS: Using a new suite of generalizable analytic approaches, we examine gold-standard diagnostic ratings, scores on 66 dimensional measures of psychopathology, and measures of cognition and functioning in two different sex chromosome aneuploidies (SCAs)-Klinefelter (XXY/KS) and XYY syndrome (n = 102 and 64 vs. n = 74 and 60 matched XY controls, total n = 300). We focus on SCAs for their high collective prevalence, informativeness regarding differential X- vs. Y-chromosome effects, and potential relevance for normative sex differences. RESULTS: We show that XXY/KS elevates rates for most psychiatric diagnoses as previously reported for XYY, but disproportionately so for anxiety disorders. Fine-mapping across all 66 traits provides a detailed profile of psychopathology in XXY/KS which is strongly correlated with that of XYY (r = .75 across traits) and robust to ascertainment biases, but reveals: (i) a greater penetrance of XYY than KS/XXY for most traits except mood/anxiety problems, and (ii) a disproportionate impact of XYY vs. XXY/KS on social problems. XXY/KS and XYY showed a similar coupling of psychopathology with adaptive function and caregiver strain, but not IQ. CONCLUSIONS: This work provides new tools for deep-phenotypic comparisons of genetic disorders in psychiatry and uses these to detail unique and shared effects of the X- and Y-chromosome on human behavior. En ligne : https://dx.doi.org/10.1186/s11689-024-09574-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576

Changes in the prevalence of intellectual disability among 10-year-old children in Sweden during 2011 through 2021: a total population study / Maki MORINAGA in Journal of Neurodevelopmental Disorders, 16 (2024)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 16 (2024) Titre : Changes in the prevalence of intellectual disability among 10-year-old children in Sweden during 2011 through 2021: a total population study Type de document : texte imprimé Auteurs : Maki MORINAGA, Auteur ; Viktor H. AHLQVIST, Auteur ; Michael LUNDBERG, Auteur ; Anna-Clara HOLLANDER, Auteur ; Dheeraj RAI, Auteur ; Cecilia MAGNUSSON, Auteur Langues : Anglais (eng) Mots-clés : Humans  Sweden/epidemiology  Intellectual Disability/epidemiology  Female  Male  Prevalence  Child  Attention Deficit Disorder with Hyperactivity/epidemiology  Comorbidity  Registries  Autistic Disorder/epidemiology  Cohort Studies  Autism spectrum disorder  Epidemiology  Intellectual disability  Low birth weight  Prematurity  Sociodemographic factors Index. décimale : PER Périodiques Résumé : BACKGROUND: Recent studies have suggested an increasing prevalence of intellectual disability diagnoses in some countries. Our aim was to describe the trend in the prevalence of intellectual disability diagnoses in Sweden and explore whether associated sociodemographic and perinatal factors can explain changes in the prevalence. METHODS: We used a register-based nationwide cohort of residents in Sweden born between 2001 and 2011. We calculated the prevalence of intellectual disability diagnoses by age 10 for each birth cohort and the prevalence ratios in relation to the baseline year 2011, overall and by severity of intellectual disability, and comorbidity of autism and attention-deficit/hyperactivity disorder. The prevalence ratios were stratified and adjusted for associated sociodemographic and perinatal factors. RESULTS: Among 1,096,800 individuals, 8,577 were diagnosed with intellectual disability by age 10. Among these, 3,949 (46%) and 2,768 (32%) were also diagnosed with autism and attention-deficit/hyperactivity disorder, respectively, and 4% were diagnosed with profound, 8% severe, 20% moderate, 52% mild, and 16% other/unspecific intellectual disability. The recorded age-10 prevalence of intellectual disability diagnoses increased from 0.64% (95% confidence interval 0.59-0.69%) in 2011 to 1.00% (0.94-1.06%) in 2021, corresponding to an annual prevalence ratio of 1.04 (1.04-1.05). The increase was, however, restricted to mild, moderate, and other/unspecific intellectual disability diagnoses, while the trends for profound and severe intellectual disability diagnoses were stable. The increasing trend was perhaps less pronounced among females and children with diagnosed attention-deficit/hyperactivity disorder, but independent of the co-occurrence of autism. The prevalence ratios did not change with stratification or adjustment for other associated demographic and perinatal factors. CONCLUSION: The recorded prevalence of diagnosed mild and moderate intellectual disability among 10-year-olds in Sweden has increased over the recent decade. This increase could not be explained by changes in associated sociodemographic or perinatal factors, including birth weight, gestational age, and parental age, migration status, and education at the child's birth. The increase instead may be due to changes in diagnostic practices in Sweden over time. En ligne : https://dx.doi.org/10.1186/s11689-024-09576-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576 [article] Changes in the prevalence of intellectual disability among 10-year-old children in Sweden during 2011 through 2021: a total population study [texte imprimé] / Maki MORINAGA, Auteur ; Viktor H. AHLQVIST, Auteur ; Michael LUNDBERG, Auteur ; Anna-Clara HOLLANDER, Auteur ; Dheeraj RAI, Auteur ; Cecilia MAGNUSSON, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 16 (2024) Mots-clés : Humans  Sweden/epidemiology  Intellectual Disability/epidemiology  Female  Male  Prevalence  Child  Attention Deficit Disorder with Hyperactivity/epidemiology  Comorbidity  Registries  Autistic Disorder/epidemiology  Cohort Studies  Autism spectrum disorder  Epidemiology  Intellectual disability  Low birth weight  Prematurity  Sociodemographic factors Index. décimale : PER Périodiques Résumé : BACKGROUND: Recent studies have suggested an increasing prevalence of intellectual disability diagnoses in some countries. Our aim was to describe the trend in the prevalence of intellectual disability diagnoses in Sweden and explore whether associated sociodemographic and perinatal factors can explain changes in the prevalence. METHODS: We used a register-based nationwide cohort of residents in Sweden born between 2001 and 2011. We calculated the prevalence of intellectual disability diagnoses by age 10 for each birth cohort and the prevalence ratios in relation to the baseline year 2011, overall and by severity of intellectual disability, and comorbidity of autism and attention-deficit/hyperactivity disorder. The prevalence ratios were stratified and adjusted for associated sociodemographic and perinatal factors. RESULTS: Among 1,096,800 individuals, 8,577 were diagnosed with intellectual disability by age 10. Among these, 3,949 (46%) and 2,768 (32%) were also diagnosed with autism and attention-deficit/hyperactivity disorder, respectively, and 4% were diagnosed with profound, 8% severe, 20% moderate, 52% mild, and 16% other/unspecific intellectual disability. The recorded age-10 prevalence of intellectual disability diagnoses increased from 0.64% (95% confidence interval 0.59-0.69%) in 2011 to 1.00% (0.94-1.06%) in 2021, corresponding to an annual prevalence ratio of 1.04 (1.04-1.05). The increase was, however, restricted to mild, moderate, and other/unspecific intellectual disability diagnoses, while the trends for profound and severe intellectual disability diagnoses were stable. The increasing trend was perhaps less pronounced among females and children with diagnosed attention-deficit/hyperactivity disorder, but independent of the co-occurrence of autism. The prevalence ratios did not change with stratification or adjustment for other associated demographic and perinatal factors. CONCLUSION: The recorded prevalence of diagnosed mild and moderate intellectual disability among 10-year-olds in Sweden has increased over the recent decade. This increase could not be explained by changes in associated sociodemographic or perinatal factors, including birth weight, gestational age, and parental age, migration status, and education at the child's birth. The increase instead may be due to changes in diagnostic practices in Sweden over time. En ligne : https://dx.doi.org/10.1186/s11689-024-09576-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576

Associations between genotype, phenotype and behaviours measured by the Rett syndrome behaviour questionnaire in Rett syndrome / Jenny DOWNS in Journal of Neurodevelopmental Disorders, 16 (2024)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 16 (2024) Titre : Associations between genotype, phenotype and behaviours measured by the Rett syndrome behaviour questionnaire in Rett syndrome Type de document : texte imprimé Auteurs : Jenny DOWNS, Auteur ; Kingsley WONG, Auteur ; Helen LEONARD, Auteur Langues : Anglais (eng) Mots-clés : Humans  Rett Syndrome/physiopathology/genetics/complications  Female  Male  Child  Adult  Cross-Sectional Studies  Child, Preschool  Phenotype  Adolescent  Middle Aged  Young Adult  Surveys and Questionnaires  Genotype  Methyl-CpG-Binding Protein 2/genetics  Australia  Sleep Wake Disorders/physiopathology  Behaviour  Outcome measure  Phenotype  Rett syndrome  Taysha  Clinical Trials with Anavex and Newron  All remuneration has been made to  her department. HL: Consultancy for Marinus, Acadia, Avexis and Orion  Clinical  Trials with Anavex and Newron  All remuneration has been made to her department.  KW: Has no competing interests. Index. décimale : PER Périodiques Résumé : INTRODUCTION: Rett syndrome (RTT) is a rare neurodevelopmental disorder with developmental impairments, comorbidities, and abnormal behaviours such as hand stereotypies and emotional features. The Rett Syndrome Behaviour Questionnaire (RSBQ) was developed to describe the behavioural and emotional features of RTT. Little is known how RSBQ scores are associated with genetic and clinical characteristics in RTT. This study investigated relationships between genotype, age, walking, hand function, sleep, and RSBQ total and subscale scores in RTT. METHODS: This is a cross-sectional analysis of data collected in the Australian Rett Syndrome Database and the International Rett Syndrome Phenotype Database. Parent caregivers completed the RSBQ and Sleep Disturbance Scale for Children [subscales for disorders of initiating and maintaining sleep (DIMS), disorders of excessive somnolence (DOES)], and provided information on age, variant type, functional abilities (mobility, hand function), seizure frequency and gastrointestinal problems. Associations between the RSBQ scores and the independent variables were modelled using linear regression. RESULTS: Data were available for 365 individuals with RTT [median (range) age 17.8 (2.9-51.9) years, 2 males]. Compared to adults, 2- to 12-year-old children had higher mean Total, Night-time Behaviour and Fear/Anxiety scores. Compared to individuals with a C-terminal deletion, individuals with the p.Arg255* variant had higher mean Total and Night-time Behaviours scores, whereas the p.Arg294* variant had higher mean Mood scores. Individuals with intermediate mobility and hand function abilities had a higher mean Total score. Total RSBQ and subscale scores were similar across categories for seizures, constipation, and reflux, but were higher with abnormal DIMS and abnormal DOES scores. CONCLUSION: Except for associations with sleep, the RSBQ measures the behavioural phenotype rather than clinical severity in RTT, as traditionally conceptualised in terms of functional abilities and comorbidities. When designing clinical trials, the RSBQ needs to be complemented by other outcome measures to assess specific core functions and associated comorbidities in RTT. En ligne : https://dx.doi.org/10.1186/s11689-024-09575-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576 [article] Associations between genotype, phenotype and behaviours measured by the Rett syndrome behaviour questionnaire in Rett syndrome [texte imprimé] / Jenny DOWNS, Auteur ; Kingsley WONG, Auteur ; Helen LEONARD, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 16 (2024) Mots-clés : Humans  Rett Syndrome/physiopathology/genetics/complications  Female  Male  Child  Adult  Cross-Sectional Studies  Child, Preschool  Phenotype  Adolescent  Middle Aged  Young Adult  Surveys and Questionnaires  Genotype  Methyl-CpG-Binding Protein 2/genetics  Australia  Sleep Wake Disorders/physiopathology  Behaviour  Outcome measure  Phenotype  Rett syndrome  Taysha  Clinical Trials with Anavex and Newron  All remuneration has been made to  her department. HL: Consultancy for Marinus, Acadia, Avexis and Orion  Clinical  Trials with Anavex and Newron  All remuneration has been made to her department.  KW: Has no competing interests. Index. décimale : PER Périodiques Résumé : INTRODUCTION: Rett syndrome (RTT) is a rare neurodevelopmental disorder with developmental impairments, comorbidities, and abnormal behaviours such as hand stereotypies and emotional features. The Rett Syndrome Behaviour Questionnaire (RSBQ) was developed to describe the behavioural and emotional features of RTT. Little is known how RSBQ scores are associated with genetic and clinical characteristics in RTT. This study investigated relationships between genotype, age, walking, hand function, sleep, and RSBQ total and subscale scores in RTT. METHODS: This is a cross-sectional analysis of data collected in the Australian Rett Syndrome Database and the International Rett Syndrome Phenotype Database. Parent caregivers completed the RSBQ and Sleep Disturbance Scale for Children [subscales for disorders of initiating and maintaining sleep (DIMS), disorders of excessive somnolence (DOES)], and provided information on age, variant type, functional abilities (mobility, hand function), seizure frequency and gastrointestinal problems. Associations between the RSBQ scores and the independent variables were modelled using linear regression. RESULTS: Data were available for 365 individuals with RTT [median (range) age 17.8 (2.9-51.9) years, 2 males]. Compared to adults, 2- to 12-year-old children had higher mean Total, Night-time Behaviour and Fear/Anxiety scores. Compared to individuals with a C-terminal deletion, individuals with the p.Arg255* variant had higher mean Total and Night-time Behaviours scores, whereas the p.Arg294* variant had higher mean Mood scores. Individuals with intermediate mobility and hand function abilities had a higher mean Total score. Total RSBQ and subscale scores were similar across categories for seizures, constipation, and reflux, but were higher with abnormal DIMS and abnormal DOES scores. CONCLUSION: Except for associations with sleep, the RSBQ measures the behavioural phenotype rather than clinical severity in RTT, as traditionally conceptualised in terms of functional abilities and comorbidities. When designing clinical trials, the RSBQ needs to be complemented by other outcome measures to assess specific core functions and associated comorbidities in RTT. En ligne : https://dx.doi.org/10.1186/s11689-024-09575-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576

Early onset and increasing disparities in neurodevelopmental delays from birth to age 6 in children from low socioeconomic backgrounds / Tae Hwan HAN in Journal of Neurodevelopmental Disorders, 16 (2024)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 16 (2024) Titre : Early onset and increasing disparities in neurodevelopmental delays from birth to age 6 in children from low socioeconomic backgrounds Type de document : texte imprimé Auteurs : Tae Hwan HAN, Auteur ; Kyu Young CHAE, Auteur ; Boeun HAN, Auteur ; Ju Hee KIM, Auteur ; Eun Kyo HA, Auteur ; Seonkyeong RHIE, Auteur ; Man Yong HAN, Auteur Langues : Anglais (eng) Mots-clés : Humans  Female  Male  Child, Preschool  Retrospective Studies  Infant  Child  Developmental Disabilities/epidemiology/etiology  Republic of Korea/epidemiology  Infant, Newborn  Social Class  Child Development/physiology  Neurodevelopmental Disorders/epidemiology/etiology  Health Status Disparities  Birthweight  Cognition  Environmental factors  Neurodevelopmental delay  Socioeconomic status  personal relationships that could have appeared to influence the work reported in  this paper. The authors declare no competing interests. Index. décimale : PER Périodiques Résumé : OBJECTIVE: To analyze the complex relationship between socioeconomic status (SES) and neurodevelopmental achievements by investigating the temporal dynamics of these associations from birth to age 6. METHODS: This retrospective cohort study was conducted over 6 years using population-based data from the National Health Insurance Service and integrated data from the National Health Screening Program for Infants and Children. Participants were children born between 2009 and 2011 in Korea without neurodevelopmental delays with potential developmental implications. We analyzed results from the Korean Developmental Screening Test, administered at age 6, which covered overall assessment and six domains of gross and fine motor function, cognition, language, sociality, and self-care. The secondary outcome was to determine when neurodevelopmental outcomes began after birth and how these differences changed over time. RESULTS: Of 276,167 individuals (49.2% males), 66,325, 138,980, and 60,862 had low, intermediate, and high SES, respectively. Neurodevelopmental delays observed across all developmental domains were more prevalent in the low-SES group than in the high-SES group. Disparities in neurodevelopment according to these statuses were apparent as early as age 2 and tended to increase over time (interaction, P < 0.001). The cognition and language domains exhibited the most substantial disparities between SES levels. These disparities persisted in subgroup analyses of sex, birthweight, head circumference, birth data, and breastfeeding variables. CONCLUSIONS: Low SES was significantly associated with an increased risk of adverse neurodevelopmental outcomes in preschool children, particularly those affecting cognitive and language domains. These differences manifested in early childhood and widened over time. En ligne : https://dx.doi.org/10.1186/s11689-024-09577-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576 [article] Early onset and increasing disparities in neurodevelopmental delays from birth to age 6 in children from low socioeconomic backgrounds [texte imprimé] / Tae Hwan HAN, Auteur ; Kyu Young CHAE, Auteur ; Boeun HAN, Auteur ; Ju Hee KIM, Auteur ; Eun Kyo HA, Auteur ; Seonkyeong RHIE, Auteur ; Man Yong HAN, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 16 (2024) Mots-clés : Humans  Female  Male  Child, Preschool  Retrospective Studies  Infant  Child  Developmental Disabilities/epidemiology/etiology  Republic of Korea/epidemiology  Infant, Newborn  Social Class  Child Development/physiology  Neurodevelopmental Disorders/epidemiology/etiology  Health Status Disparities  Birthweight  Cognition  Environmental factors  Neurodevelopmental delay  Socioeconomic status  personal relationships that could have appeared to influence the work reported in  this paper. The authors declare no competing interests. Index. décimale : PER Périodiques Résumé : OBJECTIVE: To analyze the complex relationship between socioeconomic status (SES) and neurodevelopmental achievements by investigating the temporal dynamics of these associations from birth to age 6. METHODS: This retrospective cohort study was conducted over 6 years using population-based data from the National Health Insurance Service and integrated data from the National Health Screening Program for Infants and Children. Participants were children born between 2009 and 2011 in Korea without neurodevelopmental delays with potential developmental implications. We analyzed results from the Korean Developmental Screening Test, administered at age 6, which covered overall assessment and six domains of gross and fine motor function, cognition, language, sociality, and self-care. The secondary outcome was to determine when neurodevelopmental outcomes began after birth and how these differences changed over time. RESULTS: Of 276,167 individuals (49.2% males), 66,325, 138,980, and 60,862 had low, intermediate, and high SES, respectively. Neurodevelopmental delays observed across all developmental domains were more prevalent in the low-SES group than in the high-SES group. Disparities in neurodevelopment according to these statuses were apparent as early as age 2 and tended to increase over time (interaction, P < 0.001). The cognition and language domains exhibited the most substantial disparities between SES levels. These disparities persisted in subgroup analyses of sex, birthweight, head circumference, birth data, and breastfeeding variables. CONCLUSIONS: Low SES was significantly associated with an increased risk of adverse neurodevelopmental outcomes in preschool children, particularly those affecting cognitive and language domains. These differences manifested in early childhood and widened over time. En ligne : https://dx.doi.org/10.1186/s11689-024-09577-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576

The effect of anxiety and autism symptom severity on restricted and repetitive behaviors over time in children with fragile X syndrome / Lauren J. MOSKOWITZ in Journal of Neurodevelopmental Disorders, 16 (2024)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 16 (2024) Titre : The effect of anxiety and autism symptom severity on restricted and repetitive behaviors over time in children with fragile X syndrome Type de document : texte imprimé Auteurs : Lauren J. MOSKOWITZ, Auteur ; Elizabeth A. WILL, Auteur ; Conner J. BLACK, Auteur ; Jane E. ROBERTS, Auteur Langues : Anglais (eng) Mots-clés : Humans  Fragile X Syndrome/complications/physiopathology  Male  Female  Child  Autism Spectrum Disorder/complications/physiopathology  Anxiety/etiology  Severity of Illness Index  Longitudinal Studies  Child, Preschool  Stereotyped Behavior/physiology  Adolescent  Comorbidity  Anxiety  Autism  Compulsive behavior  Fragile X syndrome  Restricted interests  Restricted repetitive behaviors  Ritualistic/sameness behavior  Self-injurious behaviors  Sensory-motor behaviors Index. décimale : PER Périodiques Résumé : BACKGROUND: Restricted and repetitive behaviors (RRBs) are highly prevalent and reduce function in individuals with fragile X syndrome (FXS). As transdiagnostic features of intellectual disability, elevated rates of RRBs in FXS could represent various underlying known co-occurring conditions in FXS such as anxiety or autism spectrum disorder (ASD), yet this distinction has not been investigated. Further, delineating whether RRBs are more indicative of anxiety or ASD in FXS may clarify phenotypic profiles within FXS and improve differential assessment. METHODS: We longitudinally examined the potentially independent or multiplicative effect of ASD and anxiety symptom severity on RRBs in 60 children with FXS. Anxiety was measured using the Child Behavior Checklist (CBCL), ASD severity was measured using the Childhood Autism Rating Scale (CARS), and RRBs were measured using the Repetitive Behavior Scale - Revised (RBS-R). We estimated a series of moderated regression models with anxiety and ASD symptoms at the initial assessment (Time 1) as predictors of RRBs at the outcome assessment two years later (Time 2), along with an anxiety-by-ASD interaction term to determine the potential multiplicative effect of these co-occurring conditions on RRBs. RESULTS: Results identified a significant interaction between ASD and anxiety symptom severity at the initial assessment that predicted elevated sensory-motor RRBs two years later. Increased sensory-motor RRBs were predicted by elevated ASD symptoms only when anxiety symptom severity was low. Likewise, increased sensory-motor RRBs were predicted by elevated anxiety symptoms only when ASD symptom severity was low. Interestingly, this relationship was isolated to Sensory-Motor RRBs, with evidence that it could also apply to total RRBs. CONCLUSIONS: Findings suggest that ASD and anxiety exert independent and differential effects on Sensory-Motor RRBs when at high severity levels and a multiplicative effect when at moderate levels, which has important implications for early and targeted interventions. En ligne : https://dx.doi.org/10.1186/s11689-024-09569-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576 [article] The effect of anxiety and autism symptom severity on restricted and repetitive behaviors over time in children with fragile X syndrome [texte imprimé] / Lauren J. MOSKOWITZ, Auteur ; Elizabeth A. WILL, Auteur ; Conner J. BLACK, Auteur ; Jane E. ROBERTS, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 16 (2024) Mots-clés : Humans  Fragile X Syndrome/complications/physiopathology  Male  Female  Child  Autism Spectrum Disorder/complications/physiopathology  Anxiety/etiology  Severity of Illness Index  Longitudinal Studies  Child, Preschool  Stereotyped Behavior/physiology  Adolescent  Comorbidity  Anxiety  Autism  Compulsive behavior  Fragile X syndrome  Restricted interests  Restricted repetitive behaviors  Ritualistic/sameness behavior  Self-injurious behaviors  Sensory-motor behaviors Index. décimale : PER Périodiques Résumé : BACKGROUND: Restricted and repetitive behaviors (RRBs) are highly prevalent and reduce function in individuals with fragile X syndrome (FXS). As transdiagnostic features of intellectual disability, elevated rates of RRBs in FXS could represent various underlying known co-occurring conditions in FXS such as anxiety or autism spectrum disorder (ASD), yet this distinction has not been investigated. Further, delineating whether RRBs are more indicative of anxiety or ASD in FXS may clarify phenotypic profiles within FXS and improve differential assessment. METHODS: We longitudinally examined the potentially independent or multiplicative effect of ASD and anxiety symptom severity on RRBs in 60 children with FXS. Anxiety was measured using the Child Behavior Checklist (CBCL), ASD severity was measured using the Childhood Autism Rating Scale (CARS), and RRBs were measured using the Repetitive Behavior Scale - Revised (RBS-R). We estimated a series of moderated regression models with anxiety and ASD symptoms at the initial assessment (Time 1) as predictors of RRBs at the outcome assessment two years later (Time 2), along with an anxiety-by-ASD interaction term to determine the potential multiplicative effect of these co-occurring conditions on RRBs. RESULTS: Results identified a significant interaction between ASD and anxiety symptom severity at the initial assessment that predicted elevated sensory-motor RRBs two years later. Increased sensory-motor RRBs were predicted by elevated ASD symptoms only when anxiety symptom severity was low. Likewise, increased sensory-motor RRBs were predicted by elevated anxiety symptoms only when ASD symptom severity was low. Interestingly, this relationship was isolated to Sensory-Motor RRBs, with evidence that it could also apply to total RRBs. CONCLUSIONS: Findings suggest that ASD and anxiety exert independent and differential effects on Sensory-Motor RRBs when at high severity levels and a multiplicative effect when at moderate levels, which has important implications for early and targeted interventions. En ligne : https://dx.doi.org/10.1186/s11689-024-09569-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576

The utility of wearable electroencephalography combined with behavioral measures to establish a practical multi-domain model for facilitating the diagnosis of young children with attention-deficit/hyperactivity disorder / I-Chun CHEN in Journal of Neurodevelopmental Disorders, 16 (2024)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 16 (2024) Titre : The utility of wearable electroencephalography combined with behavioral measures to establish a practical multi-domain model for facilitating the diagnosis of young children with attention-deficit/hyperactivity disorder Type de document : texte imprimé Auteurs : I-Chun CHEN, Auteur ; Che-Lun CHANG, Auteur ; Meng-Han CHANG, Auteur ; Li-Wei KO, Auteur Langues : Anglais (eng) Mots-clés : Humans  Attention Deficit Disorder with Hyperactivity/diagnosis/physiopathology  Electroencephalography/instrumentation  Wearable Electronic Devices  Male  Female  Child, Preschool  Child  Machine Learning  Deep Learning  Artificial intelligence (AI)  Attention-deficit/hyperactivity disorders (ADHD)  Conners' kiddie continuous performance test second edition (K-CPT-2)  Electroencephalography (EEG)  Preschool children  Rating scales  Wearable technology  by the Research Ethics Committee of the National Health Research Institutes in  Taiwan (EC1070401-F). Written informed consent from parents and assent from  children were obtained prior to study entry. Consent for publication Written  informed consents from participating parents and assents from children were  obtained. Competing interests The authors declare no competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: A multi-method, multi-informant approach is crucial for evaluating attention-deficit/hyperactivity disorders (ADHD) in preschool children due to the diagnostic complexities and challenges at this developmental stage. However, most artificial intelligence (AI) studies on the automated detection of ADHD have relied on using a single datatype. This study aims to develop a reliable multimodal AI-detection system to facilitate the diagnosis of ADHD in young children. METHODS: 78 young children were recruited, including 43 diagnosed with ADHD (mean age: 68.07 ± 6.19 months) and 35 with typical development (mean age: 67.40 ± 5.44 months). Machine learning and deep learning methods were adopted to develop three individual predictive models using electroencephalography (EEG) data recorded with a wearable wireless device, scores from the computerized attention assessment via Conners' Kiddie Continuous Performance Test Second Edition (K-CPT-2), and ratings from ADHD-related symptom scales. Finally, these models were combined to form a single ensemble model. RESULTS: The ensemble model achieved an accuracy of 0.974. While individual modality provided the optimal classification with an accuracy rate of 0.909, 0.922, and 0.950 using the ADHD-related symptom rating scale, the K-CPT-2 score, and the EEG measure, respectively. Moreover, the findings suggest that teacher ratings, K-CPT-2 reaction time, and occipital high-frequency EEG band power values are significant features in identifying young children with ADHD. CONCLUSIONS: This study addresses three common issues in ADHD-related AI research: the utility of wearable technologies, integrating databases from diverse ADHD diagnostic instruments, and appropriately interpreting the models. This established multimodal system is potentially reliable and practical for distinguishing ADHD from TD, thus further facilitating the clinical diagnosis of ADHD in preschool young children. En ligne : https://dx.doi.org/10.1186/s11689-024-09578-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576 [article] The utility of wearable electroencephalography combined with behavioral measures to establish a practical multi-domain model for facilitating the diagnosis of young children with attention-deficit/hyperactivity disorder [texte imprimé] / I-Chun CHEN, Auteur ; Che-Lun CHANG, Auteur ; Meng-Han CHANG, Auteur ; Li-Wei KO, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 16 (2024) Mots-clés : Humans  Attention Deficit Disorder with Hyperactivity/diagnosis/physiopathology  Electroencephalography/instrumentation  Wearable Electronic Devices  Male  Female  Child, Preschool  Child  Machine Learning  Deep Learning  Artificial intelligence (AI)  Attention-deficit/hyperactivity disorders (ADHD)  Conners' kiddie continuous performance test second edition (K-CPT-2)  Electroencephalography (EEG)  Preschool children  Rating scales  Wearable technology  by the Research Ethics Committee of the National Health Research Institutes in  Taiwan (EC1070401-F). Written informed consent from parents and assent from  children were obtained prior to study entry. Consent for publication Written  informed consents from participating parents and assents from children were  obtained. Competing interests The authors declare no competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: A multi-method, multi-informant approach is crucial for evaluating attention-deficit/hyperactivity disorders (ADHD) in preschool children due to the diagnostic complexities and challenges at this developmental stage. However, most artificial intelligence (AI) studies on the automated detection of ADHD have relied on using a single datatype. This study aims to develop a reliable multimodal AI-detection system to facilitate the diagnosis of ADHD in young children. METHODS: 78 young children were recruited, including 43 diagnosed with ADHD (mean age: 68.07 ± 6.19 months) and 35 with typical development (mean age: 67.40 ± 5.44 months). Machine learning and deep learning methods were adopted to develop three individual predictive models using electroencephalography (EEG) data recorded with a wearable wireless device, scores from the computerized attention assessment via Conners' Kiddie Continuous Performance Test Second Edition (K-CPT-2), and ratings from ADHD-related symptom scales. Finally, these models were combined to form a single ensemble model. RESULTS: The ensemble model achieved an accuracy of 0.974. While individual modality provided the optimal classification with an accuracy rate of 0.909, 0.922, and 0.950 using the ADHD-related symptom rating scale, the K-CPT-2 score, and the EEG measure, respectively. Moreover, the findings suggest that teacher ratings, K-CPT-2 reaction time, and occipital high-frequency EEG band power values are significant features in identifying young children with ADHD. CONCLUSIONS: This study addresses three common issues in ADHD-related AI research: the utility of wearable technologies, integrating databases from diverse ADHD diagnostic instruments, and appropriately interpreting the models. This established multimodal system is potentially reliable and practical for distinguishing ADHD from TD, thus further facilitating the clinical diagnosis of ADHD in preschool young children. En ligne : https://dx.doi.org/10.1186/s11689-024-09578-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576

Predicting neurodevelopmental disorders using machine learning models and electronic health records - status of the field / Shyam Sundar RAJAGOPALAN in Journal of Neurodevelopmental Disorders, 16 (2024)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 16 (2024) Titre : Predicting neurodevelopmental disorders using machine learning models and electronic health records - status of the field Type de document : texte imprimé Auteurs : Shyam Sundar RAJAGOPALAN, Auteur ; Kristiina TAMMIMIES, Auteur Langues : Anglais (eng) Mots-clés : Humans  Machine Learning  Electronic Health Records  Neurodevelopmental Disorders/diagnosis/epidemiology  Attention Deficit Disorder with Hyperactivity/diagnosis/epidemiology  Autism Spectrum Disorder/diagnosis/epidemiology  Electronic Health Record  Machine Learning  Neurodevelopmental Disorder  Population Register  for publication Not applicable. Competing interests The authors declare that  there are no competing interests. Index. décimale : PER Périodiques Résumé : Machine learning (ML) is increasingly used to identify patterns that could predict neurodevelopmental disorders (NDDs), such as autism spectrum disorder (ASD) and attention-deficit hyperactivity disorder (ADHD). One key source of multilevel data for ML prediction models includes population-based registers and electronic health records. These can contain rich information on individual and familial medical histories and socio-demographics. This review summarizes studies published between 2010-2022 that used ML algorithms to develop predictive models for NDDs using population-based registers and electronic health records. A literature search identified 1191 articles, of which 32 were retained. Of these, 47% developed ASD prediction models and 25% ADHD models. Classical ML methods were used in 82% of studies and in particular tree-based prediction models performed well. The sensitivity of the models was lower than 75% for most studies, while the area under the curve (AUC) was greater than 75%. The most important predictors were patient and familial medical history and sociodemographic factors. Using private in-house datasets makes comparing and validating model generalizability across studies difficult. The ML model development and reporting guidelines were adopted only in a few recently reported studies. More work is needed to harness the power of data for detecting NDDs early. En ligne : https://dx.doi.org/10.1186/s11689-024-09579-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576 [article] Predicting neurodevelopmental disorders using machine learning models and electronic health records - status of the field [texte imprimé] / Shyam Sundar RAJAGOPALAN, Auteur ; Kristiina TAMMIMIES, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 16 (2024) Mots-clés : Humans  Machine Learning  Electronic Health Records  Neurodevelopmental Disorders/diagnosis/epidemiology  Attention Deficit Disorder with Hyperactivity/diagnosis/epidemiology  Autism Spectrum Disorder/diagnosis/epidemiology  Electronic Health Record  Machine Learning  Neurodevelopmental Disorder  Population Register  for publication Not applicable. Competing interests The authors declare that  there are no competing interests. Index. décimale : PER Périodiques Résumé : Machine learning (ML) is increasingly used to identify patterns that could predict neurodevelopmental disorders (NDDs), such as autism spectrum disorder (ASD) and attention-deficit hyperactivity disorder (ADHD). One key source of multilevel data for ML prediction models includes population-based registers and electronic health records. These can contain rich information on individual and familial medical histories and socio-demographics. This review summarizes studies published between 2010-2022 that used ML algorithms to develop predictive models for NDDs using population-based registers and electronic health records. A literature search identified 1191 articles, of which 32 were retained. Of these, 47% developed ASD prediction models and 25% ADHD models. Classical ML methods were used in 82% of studies and in particular tree-based prediction models performed well. The sensitivity of the models was lower than 75% for most studies, while the area under the curve (AUC) was greater than 75%. The most important predictors were patient and familial medical history and sociodemographic factors. Using private in-house datasets makes comparing and validating model generalizability across studies difficult. The ML model development and reporting guidelines were adopted only in a few recently reported studies. More work is needed to harness the power of data for detecting NDDs early. En ligne : https://dx.doi.org/10.1186/s11689-024-09579-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576

Investigating social orienting in children with Phelan-McDermid syndrome and 'idiopathic' autism / Antonia SAN JOSE CACERES in Journal of Neurodevelopmental Disorders, 16 (2024)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 16 (2024) Titre : Investigating social orienting in children with Phelan-McDermid syndrome and 'idiopathic' autism Type de document : texte imprimé Auteurs : Antonia SAN JOSE CACERES, Auteur ; Emma WILKINSON, Auteur ; Jennifer COOKE, Auteur ; Victoria BASKETT, Auteur ; Charlotte BLACKMORE, Auteur ; Daisy Victoria CRAWLEY, Auteur ; Allison DURKIN, Auteur ; Danielle HALPERN, Auteur ; Maria NUNEZ, Auteur ; Page SIPER, Auteur ; Declan G. MURPHY, Auteur ; Jennifer FOSS-FEIG, Auteur ; Alexander KOLEVZON, Auteur ; Eva LOTH, Auteur Langues : Anglais (eng) Mots-clés : Humans  Male  Female  Child  Chromosome Deletion  Chromosome Disorders/physiopathology/complications  Autistic Disorder/physiopathology/complications  Chromosomes, Human, Pair 22  Child, Preschool  Adolescent  Social Interaction  Social Behavior  United Kingdom  Auditory social orienting  Idiopathic autism  Pms  Phelan-McDermid syndrome  was approved by the National Research Ethics Service (NRES) Committee London –  Queen Square, under reference 15/LO/0305. All volunteers and their families gave  appropriate consent/assent to participate in the study. In the US, the project  was approved by the Institutional Review Board at the Mount Sinai Hospital. All  participants and their families gave appropriate consent to participate in the  study. Consent for publication NA. Competing interests AK receives research  support from AMO Pharma and consults to Ovid Therapeutics, Acadia, and Alkermes.  ASJC has been a consultant for F. Hoffmann-La Roche Ltd, consults for Servier and  Signant Health, and she has been involved in clinical trials conducted by  Servier. The present work is unrelated to the above grants and relationships. All  other authors have no competing interests to declare (EL, JC, JFF, PS, EW, DH,  AD, DVC, VB, CB, DGM, MN). Index. décimale : PER Périodiques Résumé : BACKGROUND: Phelan-McDermid syndrome (PMS) is a rare genetic syndrome characterized by developmental delay/intellectual disability, absent or delayed speech, physical dysmorphic features and high rates of autistic features. However, it is currently unknown whether people with PMS have similar neurocognitive atypicalities to those previously identified in idiopathic autism. Disruption in social orienting has previously been suggested as an early hallmark feature of idiopathic autism that impacts social learning and social interaction. METHODS: This study used a semi-naturalistic task to explore orienting to social versus non-social stimuli and its relation to clinical features in individuals diagnosed with PMS, autism, and neurotypical children recruited in the United States and the United Kingdom. RESULTS: At the group level, autistic and neurotypical children responded on average more often to social than non-social stimuli, while children with PMS responded similarly to both stimulus types. Both clinical groups responded significantly less often to social stimuli than neurotypical children. In addition, we found considerable variability in orienting responses within each group that were of clinical relevance. In the autism group, non-social orienting was associated with mental age, while in the PMS group social and non-social orienting were related to strength of autistic features. CONCLUSIONS: These findings do not support specific social motivation difficulties in either clinical group. Instead, they highlight the importance of exploring individual differences in orienting responses in Phelan-McDermid Syndrome in relation to autistic features. TRIAL REGISTRATION: NA. En ligne : https://dx.doi.org/10.1186/s11689-024-09564-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576 [article] Investigating social orienting in children with Phelan-McDermid syndrome and 'idiopathic' autism [texte imprimé] / Antonia SAN JOSE CACERES, Auteur ; Emma WILKINSON, Auteur ; Jennifer COOKE, Auteur ; Victoria BASKETT, Auteur ; Charlotte BLACKMORE, Auteur ; Daisy Victoria CRAWLEY, Auteur ; Allison DURKIN, Auteur ; Danielle HALPERN, Auteur ; Maria NUNEZ, Auteur ; Page SIPER, Auteur ; Declan G. MURPHY, Auteur ; Jennifer FOSS-FEIG, Auteur ; Alexander KOLEVZON, Auteur ; Eva LOTH, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 16 (2024) Mots-clés : Humans  Male  Female  Child  Chromosome Deletion  Chromosome Disorders/physiopathology/complications  Autistic Disorder/physiopathology/complications  Chromosomes, Human, Pair 22  Child, Preschool  Adolescent  Social Interaction  Social Behavior  United Kingdom  Auditory social orienting  Idiopathic autism  Pms  Phelan-McDermid syndrome  was approved by the National Research Ethics Service (NRES) Committee London –  Queen Square, under reference 15/LO/0305. All volunteers and their families gave  appropriate consent/assent to participate in the study. In the US, the project  was approved by the Institutional Review Board at the Mount Sinai Hospital. All  participants and their families gave appropriate consent to participate in the  study. Consent for publication NA. Competing interests AK receives research  support from AMO Pharma and consults to Ovid Therapeutics, Acadia, and Alkermes.  ASJC has been a consultant for F. Hoffmann-La Roche Ltd, consults for Servier and  Signant Health, and she has been involved in clinical trials conducted by  Servier. The present work is unrelated to the above grants and relationships. All  other authors have no competing interests to declare (EL, JC, JFF, PS, EW, DH,  AD, DVC, VB, CB, DGM, MN). Index. décimale : PER Périodiques Résumé : BACKGROUND: Phelan-McDermid syndrome (PMS) is a rare genetic syndrome characterized by developmental delay/intellectual disability, absent or delayed speech, physical dysmorphic features and high rates of autistic features. However, it is currently unknown whether people with PMS have similar neurocognitive atypicalities to those previously identified in idiopathic autism. Disruption in social orienting has previously been suggested as an early hallmark feature of idiopathic autism that impacts social learning and social interaction. METHODS: This study used a semi-naturalistic task to explore orienting to social versus non-social stimuli and its relation to clinical features in individuals diagnosed with PMS, autism, and neurotypical children recruited in the United States and the United Kingdom. RESULTS: At the group level, autistic and neurotypical children responded on average more often to social than non-social stimuli, while children with PMS responded similarly to both stimulus types. Both clinical groups responded significantly less often to social stimuli than neurotypical children. In addition, we found considerable variability in orienting responses within each group that were of clinical relevance. In the autism group, non-social orienting was associated with mental age, while in the PMS group social and non-social orienting were related to strength of autistic features. CONCLUSIONS: These findings do not support specific social motivation difficulties in either clinical group. Instead, they highlight the importance of exploring individual differences in orienting responses in Phelan-McDermid Syndrome in relation to autistic features. TRIAL REGISTRATION: NA. En ligne : https://dx.doi.org/10.1186/s11689-024-09564-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576

Effects of a ciliary neurotrophic factor (CNTF) small-molecule peptide mimetic in an in vitro and in vivo model of CDKL5 deficiency disorder / Nicola MOTTOLESE in Journal of Neurodevelopmental Disorders, 16 (2024)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 16 (2024) Titre : Effects of a ciliary neurotrophic factor (CNTF) small-molecule peptide mimetic in an in vitro and in vivo model of CDKL5 deficiency disorder Type de document : texte imprimé Auteurs : Nicola MOTTOLESE, Auteur ; Manuela LOI, Auteur ; Stefania TRAZZI, Auteur ; Marianna TASSINARI, Auteur ; Beatrice UGUAGLIATI, Auteur ; Giulia CANDINI, Auteur ; Khalid IQBAL, Auteur ; Giorgio MEDICI, Auteur ; Elisabetta CIANI, Auteur Langues : Anglais (eng) Mots-clés : Animals  Spasms, Infantile/drug therapy/genetics  Epileptic Syndromes/drug therapy  Mice  Disease Models, Animal  Protein Serine-Threonine Kinases/genetics/metabolism  Mice, Knockout  Ciliary Neurotrophic Factor/pharmacology  Brain-Derived Neurotrophic Factor/metabolism/drug effects  Humans  Neurons/drug effects/metabolism  Neurogenesis/drug effects  Male  Cdkl5 KO mice  Brain development  Cntf  Dendritic pathology  Neuroinflammation  Neuronal survival  were conducted in accordance with the Italian and European Community law for the  use of experimental animals and with the approval of the National Bioethical  Committee (approval number: n° 184/2022-PR). Consent for publication: Not  applicable. Competing interests: KI is cofounder and Chief Scientific Officer of  Phanes Biotech Inc. and has several patents on the composition and the use of  P021 and is in the process of developing P021 as a therapeutic drug for the  treatment of Alzheimer’s disease and related neurodegenerative disorders. Other  authors declare no conflicts of interest related to this article. Index. décimale : PER Périodiques Résumé : BACKGROUND: Mutations in the X-linked CDKL5 gene underlie a severe epileptic encephalopathy, CDKL5 deficiency disorder (CDD), characterized by gross motor impairment, autistic features and intellectual disability. Absence of Cdkl5 negatively impacts neuronal proliferation, survival, and maturation in in vitro and in vivo models, resulting in behavioral deficits in the Cdkl5 KO mouse. While there is no targeted therapy for CDD, several studies showed that treatments enabling an increase in brain BDNF levels give rise to structural and behavioral improvements in Cdkl5 KO mice. P021, a tetra-peptide derived from the biologically active region of the human ciliary neurotrophic factor (CNTF), was found to enhance neurogenesis and synaptic plasticity by promoting an increase in BDNF expression in preclinical models of brain disorders, such as Alzheimer's disease and Down syndrome, resulting in a beneficial therapeutic effect. Considering the positive actions of P021 on brain development and cognition associated with increased BDNF expression, the present study aimed to evaluate the possible beneficial effect of treatment with P021 in an in vitro and in vivo model of CDD. METHODS: We used SH-CDKL5-KO cells as an in vitro model of CDD to test the efficacy of P021 on neuronal proliferation, survival, and maturation. In addition, both young and adult Cdkl5 KO mice were used to evaluate the in vivo effects of P021, on neuroanatomical and behavioral defects. RESULTS: We found that P021 treatment was effective in restoring neuronal proliferation, survival, and maturation deficits, as well as alterations in the GSK3β signaling pathway, features that characterize a human neuronal model of CDKL5 deficiency. Unexpectedly, chronic in vivo P021 treatment failed to increase BDNF levels and did not improve neuroanatomical defects in Cdkl5 KO mice, resulting in limited behavioral benefit. CONCLUSIONS: At present, it remains to be understood whether initiating the treatment prenatally, or prolonging the duration of treatment will be necessary in order to achieve similar results in vivo in CDD mice to those obtained in vitro. En ligne : https://dx.doi.org/10.1186/s11689-024-09583-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576 [article] Effects of a ciliary neurotrophic factor (CNTF) small-molecule peptide mimetic in an in vitro and in vivo model of CDKL5 deficiency disorder [texte imprimé] / Nicola MOTTOLESE, Auteur ; Manuela LOI, Auteur ; Stefania TRAZZI, Auteur ; Marianna TASSINARI, Auteur ; Beatrice UGUAGLIATI, Auteur ; Giulia CANDINI, Auteur ; Khalid IQBAL, Auteur ; Giorgio MEDICI, Auteur ; Elisabetta CIANI, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 16 (2024) Mots-clés : Animals  Spasms, Infantile/drug therapy/genetics  Epileptic Syndromes/drug therapy  Mice  Disease Models, Animal  Protein Serine-Threonine Kinases/genetics/metabolism  Mice, Knockout  Ciliary Neurotrophic Factor/pharmacology  Brain-Derived Neurotrophic Factor/metabolism/drug effects  Humans  Neurons/drug effects/metabolism  Neurogenesis/drug effects  Male  Cdkl5 KO mice  Brain development  Cntf  Dendritic pathology  Neuroinflammation  Neuronal survival  were conducted in accordance with the Italian and European Community law for the  use of experimental animals and with the approval of the National Bioethical  Committee (approval number: n° 184/2022-PR). Consent for publication: Not  applicable. Competing interests: KI is cofounder and Chief Scientific Officer of  Phanes Biotech Inc. and has several patents on the composition and the use of  P021 and is in the process of developing P021 as a therapeutic drug for the  treatment of Alzheimer’s disease and related neurodegenerative disorders. Other  authors declare no conflicts of interest related to this article. Index. décimale : PER Périodiques Résumé : BACKGROUND: Mutations in the X-linked CDKL5 gene underlie a severe epileptic encephalopathy, CDKL5 deficiency disorder (CDD), characterized by gross motor impairment, autistic features and intellectual disability. Absence of Cdkl5 negatively impacts neuronal proliferation, survival, and maturation in in vitro and in vivo models, resulting in behavioral deficits in the Cdkl5 KO mouse. While there is no targeted therapy for CDD, several studies showed that treatments enabling an increase in brain BDNF levels give rise to structural and behavioral improvements in Cdkl5 KO mice. P021, a tetra-peptide derived from the biologically active region of the human ciliary neurotrophic factor (CNTF), was found to enhance neurogenesis and synaptic plasticity by promoting an increase in BDNF expression in preclinical models of brain disorders, such as Alzheimer's disease and Down syndrome, resulting in a beneficial therapeutic effect. Considering the positive actions of P021 on brain development and cognition associated with increased BDNF expression, the present study aimed to evaluate the possible beneficial effect of treatment with P021 in an in vitro and in vivo model of CDD. METHODS: We used SH-CDKL5-KO cells as an in vitro model of CDD to test the efficacy of P021 on neuronal proliferation, survival, and maturation. In addition, both young and adult Cdkl5 KO mice were used to evaluate the in vivo effects of P021, on neuroanatomical and behavioral defects. RESULTS: We found that P021 treatment was effective in restoring neuronal proliferation, survival, and maturation deficits, as well as alterations in the GSK3β signaling pathway, features that characterize a human neuronal model of CDKL5 deficiency. Unexpectedly, chronic in vivo P021 treatment failed to increase BDNF levels and did not improve neuroanatomical defects in Cdkl5 KO mice, resulting in limited behavioral benefit. CONCLUSIONS: At present, it remains to be understood whether initiating the treatment prenatally, or prolonging the duration of treatment will be necessary in order to achieve similar results in vivo in CDD mice to those obtained in vitro. En ligne : https://dx.doi.org/10.1186/s11689-024-09583-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576

Cortical Vision Impairment (CVI)-informed assessment and treatment of challenging behavior in a child with SCN2A-related disorder / Benjamin R. THOMAS in Journal of Neurodevelopmental Disorders, 16 (2024)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 16 (2024) Titre : Cortical Vision Impairment (CVI)-informed assessment and treatment of challenging behavior in a child with SCN2A-related disorder Type de document : texte imprimé Auteurs : Benjamin R. THOMAS, Auteur ; Natasha N. LUDWIG, Auteur ; Danielle PELLETIER, Auteur ; Melanie BAUER, Auteur ; Rebecca HOMMER, Auteur ; Constance SMITH-HICKS, Auteur ; Julia T. O'CONNOR, Auteur Langues : Anglais (eng) Mots-clés : Child  Humans  Autism Spectrum Disorder/complications/genetics/therapy  Behavior Therapy/methods  Epilepsy/complications/genetics/therapy  Intellectual Disability/complications/genetics/therapy  NAV1.2 Voltage-Gated Sodium Channel/genetics  Problem Behavior  Vision Disorders/complications/genetics/therapy  Applied behavior analysis  Autism spectrum disorder  Cortical visual impairment  Functional behavior assessment  Functional vision assessment  Parent training  SCN2A-related disorder  this study were in accordance with the ethical standards of the institutional  review board and with the 1964 Helsinki declaration and its later amendments or  comparable ethical standards. Informed consent was obtained for all individual  participants included in the report. Competing interests: The authors declare no  competing interests. Index. décimale : PER Périodiques Résumé : This report presents results of parent-implemented behavioral treatments for a child with cortical visual impairment (CVI), intellectual disability (ID), epilepsy, and autism spectrum disorder (ASD) associated with a pathogenic variant in the SCN2A gene (i.e., SCN2A-Related Disorder). Treatment evaluations were informed by combined results of functional behavior assessment (FBA) and functional vision assessment (FVA) which yielded CVI-related accommodations. The treatment of escape-maintained challenging behavior involved the evaluation of behavioral prompting strategies in accordance with CVI-related accommodations, extinction (EXT), and differential reinforcement modifications. The treatment for behavior problems maintained by access to food (tangible-edible) included functional communication training (FCT), EXT, and schedule thinning with schedule-correlated visual signals. Overall, integrating child-specific CVI-related accommodations was essential for developing effective behavioral interventions for this child. FVAs are accessible and practical for uptake by behavior analysts in vision-informed assessment and treatment of challenging behavior. En ligne : https://dx.doi.org/10.1186/s11689-024-09580-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576 [article] Cortical Vision Impairment (CVI)-informed assessment and treatment of challenging behavior in a child with SCN2A-related disorder [texte imprimé] / Benjamin R. THOMAS, Auteur ; Natasha N. LUDWIG, Auteur ; Danielle PELLETIER, Auteur ; Melanie BAUER, Auteur ; Rebecca HOMMER, Auteur ; Constance SMITH-HICKS, Auteur ; Julia T. O'CONNOR, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 16 (2024) Mots-clés : Child  Humans  Autism Spectrum Disorder/complications/genetics/therapy  Behavior Therapy/methods  Epilepsy/complications/genetics/therapy  Intellectual Disability/complications/genetics/therapy  NAV1.2 Voltage-Gated Sodium Channel/genetics  Problem Behavior  Vision Disorders/complications/genetics/therapy  Applied behavior analysis  Autism spectrum disorder  Cortical visual impairment  Functional behavior assessment  Functional vision assessment  Parent training  SCN2A-related disorder  this study were in accordance with the ethical standards of the institutional  review board and with the 1964 Helsinki declaration and its later amendments or  comparable ethical standards. Informed consent was obtained for all individual  participants included in the report. Competing interests: The authors declare no  competing interests. Index. décimale : PER Périodiques Résumé : This report presents results of parent-implemented behavioral treatments for a child with cortical visual impairment (CVI), intellectual disability (ID), epilepsy, and autism spectrum disorder (ASD) associated with a pathogenic variant in the SCN2A gene (i.e., SCN2A-Related Disorder). Treatment evaluations were informed by combined results of functional behavior assessment (FBA) and functional vision assessment (FVA) which yielded CVI-related accommodations. The treatment of escape-maintained challenging behavior involved the evaluation of behavioral prompting strategies in accordance with CVI-related accommodations, extinction (EXT), and differential reinforcement modifications. The treatment for behavior problems maintained by access to food (tangible-edible) included functional communication training (FCT), EXT, and schedule thinning with schedule-correlated visual signals. Overall, integrating child-specific CVI-related accommodations was essential for developing effective behavioral interventions for this child. FVAs are accessible and practical for uptake by behavior analysts in vision-informed assessment and treatment of challenging behavior. En ligne : https://dx.doi.org/10.1186/s11689-024-09580-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576

Attenuated processing of vowels in the left temporal cortex predicts speech-in-noise perception deficit in children with autism / Kirill A. FADEEV in Journal of Neurodevelopmental Disorders, 16 (2024)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 16 (2024) Titre : Attenuated processing of vowels in the left temporal cortex predicts speech-in-noise perception deficit in children with autism Type de document : texte imprimé Auteurs : Kirill A. FADEEV, Auteur ; Ilacai V. ROMERO REYES, Auteur ; Dzerassa E. GOIAEVA, Auteur ; Tatiana S. OBUKHOVA, Auteur ; Tatiana M. OVSIANNIKOVA, Auteur ; Andrey O. PROKOFYEV, Auteur ; Anna M. RYTIKOVA, Auteur ; Artem Y. NOVIKOV, Auteur ; Vladimir V. KOZUNOV, Auteur ; Tatiana A. STROGANOVA, Auteur ; Elena V. OREKHOVA, Auteur Langues : Anglais (eng) Mots-clés : Humans  Male  Speech Perception/physiology  Magnetoencephalography  Child  Temporal Lobe/physiopathology  Noise  Acoustic Stimulation  Evoked Potentials, Auditory/physiology  Autism Spectrum Disorder/physiopathology/complications  Adolescent  Auditory Cortex/physiopathology  Autistic Disorder/physiopathology/complications  Auditory processing disorder  Autism spectrum disorder (ASD)  Children  Formant structure  Magnetoencephalography (MEG)  Periodicity pitch  Speech-in-noise perception  Sustained processing negativity (SPN)  Vowels  of the Moscow State University of Psychology and Education approved this  investigation. All children gave verbal consent to participate in the study and  their caregivers gave written consent to participate. Consent for publication:  All children gave verbal consent to participate in the study and their caregivers  gave written consent for publication of anonymized data. Competing interests: The  authors declare no competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Difficulties with speech-in-noise perception in autism spectrum disorders (ASD) may be associated with impaired analysis of speech sounds, such as vowels, which represent the fundamental phoneme constituents of human speech. Vowels elicit early (< 100 ms) sustained processing negativity (SPN) in the auditory cortex that reflects the detection of an acoustic pattern based on the presence of formant structure and/or periodic envelope information (f0) and its transformation into an auditory "object". METHODS: We used magnetoencephalography (MEG) and individual brain models to investigate whether SPN is altered in children with ASD and whether this deficit is associated with impairment in their ability to perceive speech in the background of noise. MEG was recorded while boys with ASD and typically developing boys passively listened to sounds that differed in the presence/absence of f0 periodicity and formant structure. Word-in-noise perception was assessed in the separate psychoacoustic experiment using stationary and amplitude modulated noise with varying signal-to-noise ratio. RESULTS: SPN was present in both groups with similarly early onset. In children with ASD, SPN associated with processing formant structure was reduced predominantly in the cortical areas lateral to and medial to the primary auditory cortex, starting at ~ 150-200 ms after the stimulus onset. In the left hemisphere, this deficit correlated with impaired ability of children with ASD to recognize words in amplitude-modulated noise, but not in stationary noise. CONCLUSIONS: These results suggest that perceptual grouping of vowel formants into phonemes is impaired in children with ASD and that, in the left hemisphere, this deficit contributes to their difficulties with speech perception in fluctuating background noise. En ligne : https://dx.doi.org/10.1186/s11689-024-09585-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576 [article] Attenuated processing of vowels in the left temporal cortex predicts speech-in-noise perception deficit in children with autism [texte imprimé] / Kirill A. FADEEV, Auteur ; Ilacai V. ROMERO REYES, Auteur ; Dzerassa E. GOIAEVA, Auteur ; Tatiana S. OBUKHOVA, Auteur ; Tatiana M. OVSIANNIKOVA, Auteur ; Andrey O. PROKOFYEV, Auteur ; Anna M. RYTIKOVA, Auteur ; Artem Y. NOVIKOV, Auteur ; Vladimir V. KOZUNOV, Auteur ; Tatiana A. STROGANOVA, Auteur ; Elena V. OREKHOVA, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 16 (2024) Mots-clés : Humans  Male  Speech Perception/physiology  Magnetoencephalography  Child  Temporal Lobe/physiopathology  Noise  Acoustic Stimulation  Evoked Potentials, Auditory/physiology  Autism Spectrum Disorder/physiopathology/complications  Adolescent  Auditory Cortex/physiopathology  Autistic Disorder/physiopathology/complications  Auditory processing disorder  Autism spectrum disorder (ASD)  Children  Formant structure  Magnetoencephalography (MEG)  Periodicity pitch  Speech-in-noise perception  Sustained processing negativity (SPN)  Vowels  of the Moscow State University of Psychology and Education approved this  investigation. All children gave verbal consent to participate in the study and  their caregivers gave written consent to participate. Consent for publication:  All children gave verbal consent to participate in the study and their caregivers  gave written consent for publication of anonymized data. Competing interests: The  authors declare no competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Difficulties with speech-in-noise perception in autism spectrum disorders (ASD) may be associated with impaired analysis of speech sounds, such as vowels, which represent the fundamental phoneme constituents of human speech. Vowels elicit early (< 100 ms) sustained processing negativity (SPN) in the auditory cortex that reflects the detection of an acoustic pattern based on the presence of formant structure and/or periodic envelope information (f0) and its transformation into an auditory "object". METHODS: We used magnetoencephalography (MEG) and individual brain models to investigate whether SPN is altered in children with ASD and whether this deficit is associated with impairment in their ability to perceive speech in the background of noise. MEG was recorded while boys with ASD and typically developing boys passively listened to sounds that differed in the presence/absence of f0 periodicity and formant structure. Word-in-noise perception was assessed in the separate psychoacoustic experiment using stationary and amplitude modulated noise with varying signal-to-noise ratio. RESULTS: SPN was present in both groups with similarly early onset. In children with ASD, SPN associated with processing formant structure was reduced predominantly in the cortical areas lateral to and medial to the primary auditory cortex, starting at ~ 150-200 ms after the stimulus onset. In the left hemisphere, this deficit correlated with impaired ability of children with ASD to recognize words in amplitude-modulated noise, but not in stationary noise. CONCLUSIONS: These results suggest that perceptual grouping of vowel formants into phonemes is impaired in children with ASD and that, in the left hemisphere, this deficit contributes to their difficulties with speech perception in fluctuating background noise. En ligne : https://dx.doi.org/10.1186/s11689-024-09585-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576

Brain volumes, cognitive, and adaptive skills in school-age children with Down syndrome / Rebecca GRZADZINSKI in Journal of Neurodevelopmental Disorders, 16 (2024)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 16 (2024) Titre : Brain volumes, cognitive, and adaptive skills in school-age children with Down syndrome Type de document : texte imprimé Auteurs : Rebecca GRZADZINSKI, Auteur ; Kattia MATA, Auteur ; Ambika S. BHATT, Auteur ; Alapika JATKAR, Auteur ; Dea GARIC, Auteur ; Mark D. SHEN, Auteur ; Jessica B. GIRAULT, Auteur ; Tanya ST JOHN, Auteur ; Juhi PANDEY, Auteur ; Lonnie ZWAIGENBAUM, Auteur ; Annette ESTES, Auteur ; Audrey M. SHEN, Auteur ; Stephen DAGER, Auteur ; Robert SCHULTZ, Auteur ; Kelly BOTTERON, Auteur ; Natasha MARRUS, Auteur ; Martin STYNER, Auteur ; Alan EVANS, Auteur ; Sun Hyung KIM, Auteur ; Robert MCKINSTRY, Auteur ; Guido GERIG, Auteur ; Joseph PIVEN, Auteur ; Heather HAZLETT, Auteur ; IBIS NETWORK, Auteur Langues : Anglais (eng) Mots-clés : Humans  Down Syndrome/diagnostic imaging/physiopathology/pathology  Male  Female  Child  Magnetic Resonance Imaging  Adaptation, Psychological/physiology  Cognition/physiology  Brain/diagnostic imaging/pathology/physiopathology  Autism Spectrum Disorder/diagnostic imaging/physiopathology/pathology  Organ Size  Cerebellum/diagnostic imaging/pathology/physiopathology  Adaptive  Autism spectrum disorder  Brain volumes  Cognitive  Cortical volumes  Down syndrome  Intellectual disability  Mri  Neurobehavioral/behavioral profiles  Neurodevelopmental disorder  Neuroimaging  School-age children  in this work was approved by the local Institutional Review Board. Consent for  publication: All authors have reviewed the manuscript and approved it for  publication. Competing interests: The authors declare no competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Down syndrome (DS) is the most common congenital neurodevelopmental disorder, present in about 1 in every 700 live births. Despite its prevalence, literature exploring the neurobiology underlying DS and how this neurobiology is related to behavior is limited. This study fills this gap by examining cortical volumes and behavioral correlates in school-age children with DS. METHODS: School-age children (mean = 9.7 years ± 1.1) underwent comprehensive assessments, including cognitive and adaptive assessments, as well as an MRI scan without the use of sedation. Children with DS (n = 35) were compared to available samples of typically developing (TD; n = 80) and ASD children (n = 29). ANOVAs were conducted to compare groups on cognitive and adaptive assessments. ANCOVAs (covarying for age, sex, and total cerebral volume; TCV) compared cortical brain volumes between groups. Correlations between behavioral metrics and cortical and cerebellar volumes (separately for gray (GM) and white matter (WM)) were conducted separately by group. RESULTS: As expected, children with DS had significantly lower cognitive skills compared to ASD and TD children. Daily Living adaptive skills were comparable between ASD children and children with DS, and both groups scored lower than TD children. Children with DS exhibited a smaller TCV compared to ASD and TD children. Additionally, when controlling for TCV, age, and sex, children with DS had significantly smaller total GM and tissue volumes. Cerebellum volumes were significantly correlated with Daily Living adaptive behaviors in the DS group only. CONCLUSIONS: Despite children with DS exhibiting lower cognitive skills and smaller brain volume overall than children with ASD, their deficits in Socialization and Daily Living adaptive skills are comparable. Differences in lobar volumes (e.g., Right Frontal GM/WM, Left Frontal WM, and Left and Right Temporal WM) were observed above and beyond overall differences in total volume. The correlation between cerebellum volumes and Daily Living adaptive behaviors in the DS group provides a novel area to explore in future research. En ligne : https://dx.doi.org/10.1186/s11689-024-09581-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576 [article] Brain volumes, cognitive, and adaptive skills in school-age children with Down syndrome [texte imprimé] / Rebecca GRZADZINSKI, Auteur ; Kattia MATA, Auteur ; Ambika S. BHATT, Auteur ; Alapika JATKAR, Auteur ; Dea GARIC, Auteur ; Mark D. SHEN, Auteur ; Jessica B. GIRAULT, Auteur ; Tanya ST JOHN, Auteur ; Juhi PANDEY, Auteur ; Lonnie ZWAIGENBAUM, Auteur ; Annette ESTES, Auteur ; Audrey M. SHEN, Auteur ; Stephen DAGER, Auteur ; Robert SCHULTZ, Auteur ; Kelly BOTTERON, Auteur ; Natasha MARRUS, Auteur ; Martin STYNER, Auteur ; Alan EVANS, Auteur ; Sun Hyung KIM, Auteur ; Robert MCKINSTRY, Auteur ; Guido GERIG, Auteur ; Joseph PIVEN, Auteur ; Heather HAZLETT, Auteur ; IBIS NETWORK, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 16 (2024) Mots-clés : Humans  Down Syndrome/diagnostic imaging/physiopathology/pathology  Male  Female  Child  Magnetic Resonance Imaging  Adaptation, Psychological/physiology  Cognition/physiology  Brain/diagnostic imaging/pathology/physiopathology  Autism Spectrum Disorder/diagnostic imaging/physiopathology/pathology  Organ Size  Cerebellum/diagnostic imaging/pathology/physiopathology  Adaptive  Autism spectrum disorder  Brain volumes  Cognitive  Cortical volumes  Down syndrome  Intellectual disability  Mri  Neurobehavioral/behavioral profiles  Neurodevelopmental disorder  Neuroimaging  School-age children  in this work was approved by the local Institutional Review Board. Consent for  publication: All authors have reviewed the manuscript and approved it for  publication. Competing interests: The authors declare no competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Down syndrome (DS) is the most common congenital neurodevelopmental disorder, present in about 1 in every 700 live births. Despite its prevalence, literature exploring the neurobiology underlying DS and how this neurobiology is related to behavior is limited. This study fills this gap by examining cortical volumes and behavioral correlates in school-age children with DS. METHODS: School-age children (mean = 9.7 years ± 1.1) underwent comprehensive assessments, including cognitive and adaptive assessments, as well as an MRI scan without the use of sedation. Children with DS (n = 35) were compared to available samples of typically developing (TD; n = 80) and ASD children (n = 29). ANOVAs were conducted to compare groups on cognitive and adaptive assessments. ANCOVAs (covarying for age, sex, and total cerebral volume; TCV) compared cortical brain volumes between groups. Correlations between behavioral metrics and cortical and cerebellar volumes (separately for gray (GM) and white matter (WM)) were conducted separately by group. RESULTS: As expected, children with DS had significantly lower cognitive skills compared to ASD and TD children. Daily Living adaptive skills were comparable between ASD children and children with DS, and both groups scored lower than TD children. Children with DS exhibited a smaller TCV compared to ASD and TD children. Additionally, when controlling for TCV, age, and sex, children with DS had significantly smaller total GM and tissue volumes. Cerebellum volumes were significantly correlated with Daily Living adaptive behaviors in the DS group only. CONCLUSIONS: Despite children with DS exhibiting lower cognitive skills and smaller brain volume overall than children with ASD, their deficits in Socialization and Daily Living adaptive skills are comparable. Differences in lobar volumes (e.g., Right Frontal GM/WM, Left Frontal WM, and Left and Right Temporal WM) were observed above and beyond overall differences in total volume. The correlation between cerebellum volumes and Daily Living adaptive behaviors in the DS group provides a novel area to explore in future research. En ligne : https://dx.doi.org/10.1186/s11689-024-09581-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576

Effects of elastic therapeutic taping on reducing drooling in children with neurological disorders: a systematic review of randomized controlled trials / Krystal Tsz Ting LAM in Journal of Neurodevelopmental Disorders, 16 (2024)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 16 (2024) Titre : Effects of elastic therapeutic taping on reducing drooling in children with neurological disorders: a systematic review of randomized controlled trials Type de document : texte imprimé Auteurs : Krystal Tsz Ting LAM, Auteur ; Alex Tsz Wai HUNG, Auteur ; Kendy LAU, Auteur ; Eric Kam Pui LEE, Auteur Langues : Anglais (eng) Mots-clés : Humans  Sialorrhea/therapy/etiology  Child  Randomized Controlled Trials as Topic  Nervous System Diseases/complications  Child, Preschool  Adolescent  Drooling  Elastic therapeutic taping  Kinesio-taping  Neurological disorders  for publication: Not applicable. Competing interests: The authors declare no  competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND & AIMS: Effective treatment for anterior drooling in children with neurological disorders can lead to improved social interactions, reduced physical complications such as perioral infections, and enhanced quality of life for both patients and their parents. Elastic therapeutic taping (ETT) has emerged a novel intervention for drooling, but its evidence was limited. This study systematically reviewed the effectiveness of ETT on reducing anterior drooling in children with neurological disorders. METHODS: Multiple electronic databases, such as Ovid MEDLINE, Embase, and Cochrane Library were searched from inception till 30th October 2024. Randomized controlled trials (RCTs) were included if they: (a) used ETT as a treatment for drooling or swallowing difficulties; (b) included participants aged < 18 years old; (c) included participants with anterior drooling and neurological disorders; (d) compared effects of ETT alone or combined with other treatments (e.g. oral motor therapy (OMT)) with no taping, sham taping or other treatments, and (e) published in English. The Cochrane Risk-of-Bias tool was used to assess risk of bias for the included studies. RESULTS: Seven parallel-arm RCTs, which were conducted in South/southwest Asia, Africa, South America and Middle East, were included. In total, 220 children aged 1 to 11 were included, of which 97 received solely ETT in 4 studies, while 24 received ETT plus OMT in 2 studies. ETT combined with OMT was more effective in reducing drooling in the included 2 RCTs, though the results of ETT alone were inconsistent, likely due to heterogeneity observed in control conditions, application methods, and outcome measures. No side effects were reported in all studies. CONCLUSIONS: This review suggests that ETT combined with OMT is effective in reducing drooling in children with neurological disorders, with no evidence of side effects. TRIAL REGISTRATION: (PROSPERO no.: CRD42023488664). En ligne : https://dx.doi.org/10.1186/s11689-024-09584-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576 [article] Effects of elastic therapeutic taping on reducing drooling in children with neurological disorders: a systematic review of randomized controlled trials [texte imprimé] / Krystal Tsz Ting LAM, Auteur ; Alex Tsz Wai HUNG, Auteur ; Kendy LAU, Auteur ; Eric Kam Pui LEE, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 16 (2024) Mots-clés : Humans  Sialorrhea/therapy/etiology  Child  Randomized Controlled Trials as Topic  Nervous System Diseases/complications  Child, Preschool  Adolescent  Drooling  Elastic therapeutic taping  Kinesio-taping  Neurological disorders  for publication: Not applicable. Competing interests: The authors declare no  competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND & AIMS: Effective treatment for anterior drooling in children with neurological disorders can lead to improved social interactions, reduced physical complications such as perioral infections, and enhanced quality of life for both patients and their parents. Elastic therapeutic taping (ETT) has emerged a novel intervention for drooling, but its evidence was limited. This study systematically reviewed the effectiveness of ETT on reducing anterior drooling in children with neurological disorders. METHODS: Multiple electronic databases, such as Ovid MEDLINE, Embase, and Cochrane Library were searched from inception till 30th October 2024. Randomized controlled trials (RCTs) were included if they: (a) used ETT as a treatment for drooling or swallowing difficulties; (b) included participants aged < 18 years old; (c) included participants with anterior drooling and neurological disorders; (d) compared effects of ETT alone or combined with other treatments (e.g. oral motor therapy (OMT)) with no taping, sham taping or other treatments, and (e) published in English. The Cochrane Risk-of-Bias tool was used to assess risk of bias for the included studies. RESULTS: Seven parallel-arm RCTs, which were conducted in South/southwest Asia, Africa, South America and Middle East, were included. In total, 220 children aged 1 to 11 were included, of which 97 received solely ETT in 4 studies, while 24 received ETT plus OMT in 2 studies. ETT combined with OMT was more effective in reducing drooling in the included 2 RCTs, though the results of ETT alone were inconsistent, likely due to heterogeneity observed in control conditions, application methods, and outcome measures. No side effects were reported in all studies. CONCLUSIONS: This review suggests that ETT combined with OMT is effective in reducing drooling in children with neurological disorders, with no evidence of side effects. TRIAL REGISTRATION: (PROSPERO no.: CRD42023488664). En ligne : https://dx.doi.org/10.1186/s11689-024-09584-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576

Specialization of the brain for language in children with Fragile X Syndrome: a functional Near Infrared Spectroscopy study / Elizabeth SMITH in Journal of Neurodevelopmental Disorders, 16 (2024)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 16 (2024) Titre : Specialization of the brain for language in children with Fragile X Syndrome: a functional Near Infrared Spectroscopy study Type de document : texte imprimé Auteurs : Elizabeth SMITH, Auteur ; Kelli C. DOMINICK, Auteur ; Lauren M. SCHMITT, Auteur ; Ernest V. PEDAPATI, Auteur ; Craig A. ERICKSON, Auteur Langues : Anglais (eng) Mots-clés : Humans  Spectroscopy, Near-Infrared  Male  Female  Fragile X Syndrome/physiopathology/complications  Child  Child, Preschool  Auditory Cortex/physiopathology  Speech Perception/physiology  Language  Acoustic Stimulation  Brain/physiopathology  Functional Laterality/physiology  Auditory cortex  Fragile X syndrome  Functional near infrared spectroscopy  Speech perception  Review Board at Cincinnati Children’s Hospital Medical Center (CCHMC) and was  performed in accordance with the protections set forth in the Declaration of  Helsinki. Participant’s parents or legal guardians provided written informed  consent for participation. Consent for publication: Participant’s parents or  legal guardians provided written informed consent for publication of deidentified  data. Competing interests: The authors declare no competing interests. Index. décimale : PER Périodiques Résumé : Specialization of the brain for language is early emerging and essential for language learning in young children. Fragile X Syndrome (FXS) is a neurogenetic disorder marked by high rates of delays in both expressive and receptive language, but neural activation patterns during speech and language processing are unknown. We report results of a functional Near Infrared Spectroscopy (fNIRS) study of responses to speech and nonspeech sounds in the auditory cortex in a sample of 2- to 10-year-old children with FXS and typically developing controls (FXS n = 23, TDC n = 15, mean age = 6.44 and 7.07 years, respectively). Specifically, we measured changes in oxygenated and deoxygenated hemoglobin in the auditory cortex during blocks of speech and nonspeech matched noise in children with FXS and sex-and-age-matched controls. Similar to controls, children with FXS showed hemodynamic change consistent with neural activation of the primary auditory regions for speech as well as leftward lateralization for speech sound processing, strength of which was associated with higher verbal abilities in FXS. However, while controls showed neural differentiation of speech and nonspeech in the left auditory cortex, children with FXS did not demonstrate differentiation of the two conditions in this study. In addition, the children with FXS showed a greater neural activation to the nonspeech condition overall. Overall, these results suggest that basic patterns of neural activation for speech are present in FXS in childhood, but neural response to nonspeech sounds may differ in FXS when compared to controls. En ligne : https://dx.doi.org/10.1186/s11689-024-09582-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576 [article] Specialization of the brain for language in children with Fragile X Syndrome: a functional Near Infrared Spectroscopy study [texte imprimé] / Elizabeth SMITH, Auteur ; Kelli C. DOMINICK, Auteur ; Lauren M. SCHMITT, Auteur ; Ernest V. PEDAPATI, Auteur ; Craig A. ERICKSON, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 16 (2024) Mots-clés : Humans  Spectroscopy, Near-Infrared  Male  Female  Fragile X Syndrome/physiopathology/complications  Child  Child, Preschool  Auditory Cortex/physiopathology  Speech Perception/physiology  Language  Acoustic Stimulation  Brain/physiopathology  Functional Laterality/physiology  Auditory cortex  Fragile X syndrome  Functional near infrared spectroscopy  Speech perception  Review Board at Cincinnati Children’s Hospital Medical Center (CCHMC) and was  performed in accordance with the protections set forth in the Declaration of  Helsinki. Participant’s parents or legal guardians provided written informed  consent for participation. Consent for publication: Participant’s parents or  legal guardians provided written informed consent for publication of deidentified  data. Competing interests: The authors declare no competing interests. Index. décimale : PER Périodiques Résumé : Specialization of the brain for language is early emerging and essential for language learning in young children. Fragile X Syndrome (FXS) is a neurogenetic disorder marked by high rates of delays in both expressive and receptive language, but neural activation patterns during speech and language processing are unknown. We report results of a functional Near Infrared Spectroscopy (fNIRS) study of responses to speech and nonspeech sounds in the auditory cortex in a sample of 2- to 10-year-old children with FXS and typically developing controls (FXS n = 23, TDC n = 15, mean age = 6.44 and 7.07 years, respectively). Specifically, we measured changes in oxygenated and deoxygenated hemoglobin in the auditory cortex during blocks of speech and nonspeech matched noise in children with FXS and sex-and-age-matched controls. Similar to controls, children with FXS showed hemodynamic change consistent with neural activation of the primary auditory regions for speech as well as leftward lateralization for speech sound processing, strength of which was associated with higher verbal abilities in FXS. However, while controls showed neural differentiation of speech and nonspeech in the left auditory cortex, children with FXS did not demonstrate differentiation of the two conditions in this study. In addition, the children with FXS showed a greater neural activation to the nonspeech condition overall. Overall, these results suggest that basic patterns of neural activation for speech are present in FXS in childhood, but neural response to nonspeech sounds may differ in FXS when compared to controls. En ligne : https://dx.doi.org/10.1186/s11689-024-09582-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576

Objective approach to diagnosing attention deficit hyperactivity disorder by using pixel subtraction and machine learning classification of outpatient consultation videos / Yi-Hung CHIU in Journal of Neurodevelopmental Disorders, 16 (2024)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 16 (2024) Titre : Objective approach to diagnosing attention deficit hyperactivity disorder by using pixel subtraction and machine learning classification of outpatient consultation videos Type de document : texte imprimé Auteurs : Yi-Hung CHIU, Auteur ; Ying-Han LEE, Auteur ; San-Yuan WANG, Auteur ; Chen-Sen OUYANG, Auteur ; Rong-Ching WU, Auteur ; Rei-Cheng YANG, Auteur ; Lung-Chang LIN, Auteur Langues : Anglais (eng) Mots-clés : Humans  Attention Deficit Disorder with Hyperactivity/diagnosis/classification  Machine Learning  Child  Male  Female  Video Recording  Outpatients  Adolescent  Attention deficit hyperactivity disorder  Machine learning  Nolan  Pelham questionnaire  Pixel subtraction  Swanson  Video analysis  consent was obtained from the participants' family members or legal guardians  after the study procedures had been explained. Informed consent was also obtained  for publication of their children’s images. This study was approved by the  Institutional Review Board of Kaohsiung Medical University Hospital  (KMUIRB-SV(I)- 20190060). Consent for publication: Not applicable. Competing  interests: The authors declare no competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Attention deficit hyperactivity disorder (ADHD) is a common childhood neurodevelopmental disorder, affecting between 5% and 7% of school-age children. ADHD is typically characterized by persistent patterns of inattention or hyperactivity-impulsivity, and it is diagnosed on the basis of the criteria outlined in the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition, through subjective observations and information provided by parents and teachers. Diagnosing ADHD in children is challenging, despite several assessment tools, such as the Swanson, Nolan, and Pelham questionnaire, being widely available. Such scales provide only a subjective understanding of the disorder. In this study, we employed video pixel subtraction and machine learning classification to objectively categorize 85 participants (43 with a diagnosis of ADHD and 42 without) into an ADHD group or a non-ADHD group by quantifying their movements. METHODS: We employed pixel subtraction movement quantization by analyzing movement features in videos of patients in outpatient consultation rooms. Pixel subtraction is a technique in which the number of pixels in one frame is subtracted from that in another frame to detect changes between the two frames. A difference between the pixel values indicates the presence of movement. In the current study, the patients' subtracted image sequences were characterized using three movement feature values: mean, variance, and Shannon entropy value. A classification analysis based on six machine learning models was performed to compare the performance indices and the discriminatory power of various features. RESULTS: The results revealed that compared with the non-ADHD group, the ADHD group had significantly larger values for all movement features. Notably, the Shannon entropy values were 2.38 ± 0.59 and 1.0 ± 0.38 in the ADHD and non-ADHD groups, respectively (P < 0.0001). The Random Forest machine learning classification model achieved the most favorable results, with an accuracy of 90.24%, sensitivity of 88.85%, specificity of 91.75%, and area under the curve of 93.87%. CONCLUSION: Our pixel subtraction and machine learning classification approach is an objective and practical method that can aid to clinical decisions regarding ADHD diagnosis. En ligne : https://dx.doi.org/10.1186/s11689-024-09588-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576 [article] Objective approach to diagnosing attention deficit hyperactivity disorder by using pixel subtraction and machine learning classification of outpatient consultation videos [texte imprimé] / Yi-Hung CHIU, Auteur ; Ying-Han LEE, Auteur ; San-Yuan WANG, Auteur ; Chen-Sen OUYANG, Auteur ; Rong-Ching WU, Auteur ; Rei-Cheng YANG, Auteur ; Lung-Chang LIN, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 16 (2024) Mots-clés : Humans  Attention Deficit Disorder with Hyperactivity/diagnosis/classification  Machine Learning  Child  Male  Female  Video Recording  Outpatients  Adolescent  Attention deficit hyperactivity disorder  Machine learning  Nolan  Pelham questionnaire  Pixel subtraction  Swanson  Video analysis  consent was obtained from the participants' family members or legal guardians  after the study procedures had been explained. Informed consent was also obtained  for publication of their children’s images. This study was approved by the  Institutional Review Board of Kaohsiung Medical University Hospital  (KMUIRB-SV(I)- 20190060). Consent for publication: Not applicable. Competing  interests: The authors declare no competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Attention deficit hyperactivity disorder (ADHD) is a common childhood neurodevelopmental disorder, affecting between 5% and 7% of school-age children. ADHD is typically characterized by persistent patterns of inattention or hyperactivity-impulsivity, and it is diagnosed on the basis of the criteria outlined in the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition, through subjective observations and information provided by parents and teachers. Diagnosing ADHD in children is challenging, despite several assessment tools, such as the Swanson, Nolan, and Pelham questionnaire, being widely available. Such scales provide only a subjective understanding of the disorder. In this study, we employed video pixel subtraction and machine learning classification to objectively categorize 85 participants (43 with a diagnosis of ADHD and 42 without) into an ADHD group or a non-ADHD group by quantifying their movements. METHODS: We employed pixel subtraction movement quantization by analyzing movement features in videos of patients in outpatient consultation rooms. Pixel subtraction is a technique in which the number of pixels in one frame is subtracted from that in another frame to detect changes between the two frames. A difference between the pixel values indicates the presence of movement. In the current study, the patients' subtracted image sequences were characterized using three movement feature values: mean, variance, and Shannon entropy value. A classification analysis based on six machine learning models was performed to compare the performance indices and the discriminatory power of various features. RESULTS: The results revealed that compared with the non-ADHD group, the ADHD group had significantly larger values for all movement features. Notably, the Shannon entropy values were 2.38 ± 0.59 and 1.0 ± 0.38 in the ADHD and non-ADHD groups, respectively (P < 0.0001). The Random Forest machine learning classification model achieved the most favorable results, with an accuracy of 90.24%, sensitivity of 88.85%, specificity of 91.75%, and area under the curve of 93.87%. CONCLUSION: Our pixel subtraction and machine learning classification approach is an objective and practical method that can aid to clinical decisions regarding ADHD diagnosis. En ligne : https://dx.doi.org/10.1186/s11689-024-09588-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576