976 recherche sur le mot-clé 'Development'

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

Deficits in adults with autism spectrum disorders when processing multiple objects in dynamic scenes / Kirsten O'HEARN in Autism Research, 4-2 (April 2011)  

Public ISBD [article]  inAutism Research > 4-2 (April 2011) . - p.132-142 Titre : Deficits in adults with autism spectrum disorders when processing multiple objects in dynamic scenes Type de document : texte imprimé Auteurs : Kirsten O'HEARN, Auteur ; Laura LAKUSTA, Auteur ; Elizabeth SCHROER, Auteur ; Nancy J. MINSHEW, Auteur ; Beatriz LUNA, Auteur Année de publication : 2011 Article en page(s) : p.132-142 Langues : Anglais (eng) Mots-clés : ASD  change detection  development  developmental disorder  people perception  social cognition Index. décimale : PER Périodiques Résumé : People with autism spectrum disorders (ASD) process visual information in a manner that is distinct from typically developing individuals. They may be less sensitive to people's goals and, more generally, focus on visual details instead of the entire scene. To examine these differences, people with and without ASD were asked to detect changes in dynamic scenes with multiple elements. Participants viewed a brief video of a person or an inanimate object (the “figure”) moving from one object to another; after a delay, they reported whether a second video was the same or different. Possible changes included the figure, the object the figure was moving from, or the object the figure was moving toward (the “goal”). We hypothesized that individuals with ASD would be less sensitive to changes in scenes with people, particularly elements that might be the person's goal. Alternately, people with ASD might attend to fewer elements regardless of whether the scene included a person. Our results indicate that, like controls, people with ASD noticed a change in the “goal” object at the end of a person's movement more often than the object at the start. However, the group with ASD did not undergo the developmental improvement that was evident typically when detecting changes in both the start and end objects. This atypical development led to deficits in adults with ASD that were not specific to scenes with people or to “goals.” Improvements in visual processing that underlie mature representation of scenes may not occur in ASD, suggesting that late developing brain processes are affected. En ligne : http://dx.doi.org/10.1002/aur.179 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=121 [article] Deficits in adults with autism spectrum disorders when processing multiple objects in dynamic scenes [texte imprimé] / Kirsten O'HEARN, Auteur ; Laura LAKUSTA, Auteur ; Elizabeth SCHROER, Auteur ; Nancy J. MINSHEW, Auteur ; Beatriz LUNA, Auteur . - 2011 . - p.132-142. Langues : Anglais (eng) in Autism Research > 4-2 (April 2011) . - p.132-142 Mots-clés : ASD  change detection  development  developmental disorder  people perception  social cognition Index. décimale : PER Périodiques Résumé : People with autism spectrum disorders (ASD) process visual information in a manner that is distinct from typically developing individuals. They may be less sensitive to people's goals and, more generally, focus on visual details instead of the entire scene. To examine these differences, people with and without ASD were asked to detect changes in dynamic scenes with multiple elements. Participants viewed a brief video of a person or an inanimate object (the “figure”) moving from one object to another; after a delay, they reported whether a second video was the same or different. Possible changes included the figure, the object the figure was moving from, or the object the figure was moving toward (the “goal”). We hypothesized that individuals with ASD would be less sensitive to changes in scenes with people, particularly elements that might be the person's goal. Alternately, people with ASD might attend to fewer elements regardless of whether the scene included a person. Our results indicate that, like controls, people with ASD noticed a change in the “goal” object at the end of a person's movement more often than the object at the start. However, the group with ASD did not undergo the developmental improvement that was evident typically when detecting changes in both the start and end objects. This atypical development led to deficits in adults with ASD that were not specific to scenes with people or to “goals.” Improvements in visual processing that underlie mature representation of scenes may not occur in ASD, suggesting that late developing brain processes are affected. En ligne : http://dx.doi.org/10.1002/aur.179 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=121

Development of the Childhood Nonverbal Communication Scale / Mohammad Majid ORYADI-ZANJANI in Journal of Autism and Developmental Disorders, 50-4 (April 2020)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 50-4 (April 2020) . - p.1238-1248 Titre : Development of the Childhood Nonverbal Communication Scale Type de document : texte imprimé Auteurs : Mohammad Majid ORYADI-ZANJANI, Auteur Article en page(s) : p.1238-1248 Langues : Anglais (eng) Mots-clés : Autism spectrum disorders  Developmental disorders  Developmental screening tool  Nonverbal communication development  Persian-speaking children  The childhood nonverbal communication scale Index. décimale : PER Périodiques Résumé : The aim of this study was to develop and validate the Childhood Nonverbal Communication Scale (CNCS) to assess nonverbal communication skills in children from birth to 18 months old. An extensive review of existing research provided evidence used to generate items representative of nonverbal communication behaviors. The final version of the CNCS includes 37 items divided in two dimensions (CNCS-1 and CNCS-2) showing high content validity (item-rated content validity index >/= 0.75). The scale was administered to 428 Iranian Persian-speaking children 3 to 18 months old with normal development. According to the findings, the CNCS showed strong internal consistency (KR-20 = 0.965). Further, it had good convergent validity based on a significant correlation between total scores and the results of the Persian version of the Production of Infant Scale Evaluation (PRISE-P) (r = 0.5, P < 0.01). Therefore, the CNCS is a promising tool for measuring nonverbal communication in Iranian children from birth to 18 months of age. En ligne : http://dx.doi.org/10.1007/s10803-019-04356-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=421 [article] Development of the Childhood Nonverbal Communication Scale [texte imprimé] / Mohammad Majid ORYADI-ZANJANI, Auteur . - p.1238-1248. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 50-4 (April 2020) . - p.1238-1248 Mots-clés : Autism spectrum disorders  Developmental disorders  Developmental screening tool  Nonverbal communication development  Persian-speaking children  The childhood nonverbal communication scale Index. décimale : PER Périodiques Résumé : The aim of this study was to develop and validate the Childhood Nonverbal Communication Scale (CNCS) to assess nonverbal communication skills in children from birth to 18 months old. An extensive review of existing research provided evidence used to generate items representative of nonverbal communication behaviors. The final version of the CNCS includes 37 items divided in two dimensions (CNCS-1 and CNCS-2) showing high content validity (item-rated content validity index >/= 0.75). The scale was administered to 428 Iranian Persian-speaking children 3 to 18 months old with normal development. According to the findings, the CNCS showed strong internal consistency (KR-20 = 0.965). Further, it had good convergent validity based on a significant correlation between total scores and the results of the Persian version of the Production of Infant Scale Evaluation (PRISE-P) (r = 0.5, P < 0.01). Therefore, the CNCS is a promising tool for measuring nonverbal communication in Iranian children from birth to 18 months of age. En ligne : http://dx.doi.org/10.1007/s10803-019-04356-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=421

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

Developmental milestones and cognitive trajectories in school-aged children with 16p11.2 deletion / Jente VERBESSELT in Journal of Neurodevelopmental Disorders, 17 (2025)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 17 (2025) Titre : Developmental milestones and cognitive trajectories in school-aged children with 16p11.2 deletion Type de document : texte imprimé Auteurs : Jente VERBESSELT, Auteur ; Jeroen BRECKPOT, Auteur ; Inge ZINK, Auteur ; Ann SWILLEN, Auteur Langues : Anglais (eng) Mots-clés : Humans  Child  Adolescent  Female  Male  Chromosomes, Human, Pair 16/genetics  Child, Preschool  Intellectual Disability/physiopathology/genetics  Longitudinal Studies  Chromosome Deletion  Chromosome Disorders/physiopathology/complications/genetics  Intelligence  Cognition/physiology  Child Development/physiology  Developmental Disabilities/genetics/physiopathology  Fecal Incontinence/physiopathology  Intelligence Tests  Autistic Disorder  16p11.2 deletion syndrome  Cognition  Copy number variants  Deep phenotyping  Developmental trajectories  Early development  in accordance with the Declaration of Helsinki and approved by the Ethics  Committee Research of University Hospitals Leuven (protocol code S54485, 6  December 2012 and 26 March 2021). Patients and their parents were directly  informed about the aims of the research project, and all participants signed  informed consent. Consent for publication: Not applicable. Competing interests:  The authors declare no conflict of interest. Index. décimale : PER Périodiques Résumé : BACKGROUND: 16p11.2 deletion syndrome (16p11.2DS) is a recurrent CNV that occurs de novo in approximately 70% of cases and confers risk for neurodevelopmental disorders, including intellectual disability (ID) and autism spectrum disorders (ASD). The current study focusses on developmental milestones, cognitive profiles and longitudinal cognitive trajectories. METHODS: In-person assessments, digital medical records and parental interviews on developmental history of 24 children (5-16 years) with a confirmed BP4-BP5 16p11.2DS were reviewed and analysed for developmental milestones (motor, language, continence). Standardised intelligence tests were administered in all children, and longitudinal IQ-data were available for a subgroup (79%, 19/24). RESULTS: Motor, language, and continence milestones were delayed. Average IQ was in the borderline range (IQ 71) with 46% (11/24) having borderline IQ (IQ 70-84). Both intra- and interindividual variability were found across the five cognitive domains with significant discrepancies between verbal and non-verbal skills in 55% (11/20). Longitudinal IQ-data indicate that school-aged children with 16p11.2DS perform statistically significantly lower at the second time point (p < 0.001) with 58% showing a growing into deficit trajectory. CONCLUSION: Delayed motor, language and continence milestones are common in 16p11.2DS carriers. School-aged children with 16p11.2DS show increasing cognitive impairments over time, pointing to the need for early diagnosis, regular cognitive follow-up and individualised intervention. The high prevalence of disharmonic IQ-profiles highlights the importance of expanding the focus beyond full-scale IQ (FSIQ) outcomes. Future studies in larger cohorts including carrier relatives are needed to gain more insight into the penetrance and phenotypic variability of 16p11.2DS. En ligne : https://dx.doi.org/10.1186/s11689-025-09615-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576 [article] Developmental milestones and cognitive trajectories in school-aged children with 16p11.2 deletion [texte imprimé] / Jente VERBESSELT, Auteur ; Jeroen BRECKPOT, Auteur ; Inge ZINK, Auteur ; Ann SWILLEN, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 17 (2025) Mots-clés : Humans  Child  Adolescent  Female  Male  Chromosomes, Human, Pair 16/genetics  Child, Preschool  Intellectual Disability/physiopathology/genetics  Longitudinal Studies  Chromosome Deletion  Chromosome Disorders/physiopathology/complications/genetics  Intelligence  Cognition/physiology  Child Development/physiology  Developmental Disabilities/genetics/physiopathology  Fecal Incontinence/physiopathology  Intelligence Tests  Autistic Disorder  16p11.2 deletion syndrome  Cognition  Copy number variants  Deep phenotyping  Developmental trajectories  Early development  in accordance with the Declaration of Helsinki and approved by the Ethics  Committee Research of University Hospitals Leuven (protocol code S54485, 6  December 2012 and 26 March 2021). Patients and their parents were directly  informed about the aims of the research project, and all participants signed  informed consent. Consent for publication: Not applicable. Competing interests:  The authors declare no conflict of interest. Index. décimale : PER Périodiques Résumé : BACKGROUND: 16p11.2 deletion syndrome (16p11.2DS) is a recurrent CNV that occurs de novo in approximately 70% of cases and confers risk for neurodevelopmental disorders, including intellectual disability (ID) and autism spectrum disorders (ASD). The current study focusses on developmental milestones, cognitive profiles and longitudinal cognitive trajectories. METHODS: In-person assessments, digital medical records and parental interviews on developmental history of 24 children (5-16 years) with a confirmed BP4-BP5 16p11.2DS were reviewed and analysed for developmental milestones (motor, language, continence). Standardised intelligence tests were administered in all children, and longitudinal IQ-data were available for a subgroup (79%, 19/24). RESULTS: Motor, language, and continence milestones were delayed. Average IQ was in the borderline range (IQ 71) with 46% (11/24) having borderline IQ (IQ 70-84). Both intra- and interindividual variability were found across the five cognitive domains with significant discrepancies between verbal and non-verbal skills in 55% (11/20). Longitudinal IQ-data indicate that school-aged children with 16p11.2DS perform statistically significantly lower at the second time point (p < 0.001) with 58% showing a growing into deficit trajectory. CONCLUSION: Delayed motor, language and continence milestones are common in 16p11.2DS carriers. School-aged children with 16p11.2DS show increasing cognitive impairments over time, pointing to the need for early diagnosis, regular cognitive follow-up and individualised intervention. The high prevalence of disharmonic IQ-profiles highlights the importance of expanding the focus beyond full-scale IQ (FSIQ) outcomes. Future studies in larger cohorts including carrier relatives are needed to gain more insight into the penetrance and phenotypic variability of 16p11.2DS. En ligne : https://dx.doi.org/10.1186/s11689-025-09615-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576

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

Permalink

Early diagnosis of autism spectrum disorder: stability and change in clinical diagnosis and symptom presentation / Whitney GUTHRIE in Journal of Child Psychology and Psychiatry, 54-5 (May 2013)  

Permalink

Parent-child interaction at age 5 months: genetic and environmental contributions and associations with later socio-communicative development / Petra WARREYN ; Angelica RONALD ; Mark J. TAYLOR ; Terje FALCK-YTTER in Journal of Child Psychology and Psychiatry, 66-3 (March 2025)  

Permalink

Protein-truncating variants and deletions of SHANK2 are associated with autism spectrum disorder and other neurodevelopmental concerns / Hailey SILVER in Journal of Neurodevelopmental Disorders, 17 (2025)  

Permalink

Using development and psychopathology principles to inform the Research Domain Criteria (RDoC) framework / Elisabeth CONRADT in Development and Psychopathology, 33-5 (December 2021)  

Permalink