40 recherche sur le mot-clé 'neurodevelopmental disorder'

Composite Sleep Problems Observed Across Smith-Magenis Syndrome, MBD5-Associated Neurodevelopmental Disorder, Pitt-Hopkins Syndrome, and ASD / Anusha GANDHI in Journal of Autism and Developmental Disorders, 51-6 (June 2021)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 51-6 (June 2021) . - p.1852-1865 Titre : Composite Sleep Problems Observed Across Smith-Magenis Syndrome, MBD5-Associated Neurodevelopmental Disorder, Pitt-Hopkins Syndrome, and ASD Type de document : texte imprimé Auteurs : Anusha GANDHI, Auteur ; Dihong ZHOU, Auteur ; Joseph ALAIMO, Auteur ; Edwin CHON, Auteur ; Michael D. FOUNTAIN, Auteur ; Sarah H. ELSEA, Auteur Article en page(s) : p.1852-1865 Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorder/genetics/physiopathology  Child  Child, Preschool  DNA-Binding Proteins  Facies  Female  Humans  Hyperventilation/genetics/physiopathology  Intellectual Disability/genetics/physiopathology  Male  Neurodevelopmental Disorders/genetics/physiopathology  Sleep/genetics  Sleep Wake Disorders/genetics/psychology  Smith-Magenis Syndrome/genetics/physiopathology  Autism spectrum disorder  MBD5-associated neurodevelopmental disorder  Neurodevelopmental disorder  Pitt–Hopkins syndrome  Sleep disturbance  Smith–Magenis syndrome Index. décimale : PER Périodiques Résumé : Caregivers of preschool and elementary school age children with Smith-Magenis syndrome (SMS), MBD5-associated neurodevelopmental disorder (MAND), and Pitt-Hopkins syndrome (PTHS) were surveyed to assess sleep disturbance and to identify disorder-specific sleep problems. Because of overlapping features of these rare genetic neurodevelopmental syndromes, data were compared to reports of sleep disturbance in children with autism spectrum disorder (ASD). While similarities were observed with ASD, specific concerns between disorders differed, including mean nighttime sleep duration, daytime sleepiness, night wakings, parasomnias, restless sleep, and bedwetting. Overall, sleep disturbance in PTHS is significant but less severe than in SMS and MAND. The complexity of these conditions and the challenges of underlying sleep disturbance indicate the need for more support, education, and ongoing management of sleep for these individuals. En ligne : http://dx.doi.org/10.1007/s10803-020-04666-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=452 [article] Composite Sleep Problems Observed Across Smith-Magenis Syndrome, MBD5-Associated Neurodevelopmental Disorder, Pitt-Hopkins Syndrome, and ASD [texte imprimé] / Anusha GANDHI, Auteur ; Dihong ZHOU, Auteur ; Joseph ALAIMO, Auteur ; Edwin CHON, Auteur ; Michael D. FOUNTAIN, Auteur ; Sarah H. ELSEA, Auteur . - p.1852-1865. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 51-6 (June 2021) . - p.1852-1865 Mots-clés : Autism Spectrum Disorder/genetics/physiopathology  Child  Child, Preschool  DNA-Binding Proteins  Facies  Female  Humans  Hyperventilation/genetics/physiopathology  Intellectual Disability/genetics/physiopathology  Male  Neurodevelopmental Disorders/genetics/physiopathology  Sleep/genetics  Sleep Wake Disorders/genetics/psychology  Smith-Magenis Syndrome/genetics/physiopathology  Autism spectrum disorder  MBD5-associated neurodevelopmental disorder  Neurodevelopmental disorder  Pitt–Hopkins syndrome  Sleep disturbance  Smith–Magenis syndrome Index. décimale : PER Périodiques Résumé : Caregivers of preschool and elementary school age children with Smith-Magenis syndrome (SMS), MBD5-associated neurodevelopmental disorder (MAND), and Pitt-Hopkins syndrome (PTHS) were surveyed to assess sleep disturbance and to identify disorder-specific sleep problems. Because of overlapping features of these rare genetic neurodevelopmental syndromes, data were compared to reports of sleep disturbance in children with autism spectrum disorder (ASD). While similarities were observed with ASD, specific concerns between disorders differed, including mean nighttime sleep duration, daytime sleepiness, night wakings, parasomnias, restless sleep, and bedwetting. Overall, sleep disturbance in PTHS is significant but less severe than in SMS and MAND. The complexity of these conditions and the challenges of underlying sleep disturbance indicate the need for more support, education, and ongoing management of sleep for these individuals. En ligne : http://dx.doi.org/10.1007/s10803-020-04666-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=452

Biophysical classification of a CACNA1D de novo mutation as a high-risk mutation for a severe neurodevelopmental disorder / Nadja T. HOFER in Molecular Autism, 11 (2020)  

Public ISBD [article]  inMolecular Autism > 11 (2020) . - 4 p. Titre : Biophysical classification of a CACNA1D de novo mutation as a high-risk mutation for a severe neurodevelopmental disorder Type de document : texte imprimé Auteurs : Nadja T. HOFER, Auteur ; Petronel TULUC, Auteur ; Nadine J. ORTNER, Auteur ; Yuliia V. NIKONISHYNA, Auteur ; Monica L. FERNÁNDES-QUINTERO, Auteur ; Klaus R. LIEDL, Auteur ; Bernhard E. FLUCHER, Auteur ; Helen COX, Auteur ; Jörg STRIESSNIG, Auteur Article en page(s) : 4 p. Langues : Anglais (eng) Mots-clés : Autism spectrum disorder  cacna1d  Gain-of-function mutation  L-type Ca2+-channels  Neurodevelopmental disorder Index. décimale : PER Périodiques Résumé : BACKGROUND: There is increasing evidence that de novo CACNA1D missense mutations inducing increased Cav1.3 L-type Ca(2+)-channel-function confer a high risk for neurodevelopmental disorders (autism spectrum disorder with and without neurological and endocrine symptoms). Electrophysiological studies demonstrating the presence or absence of typical gain-of-function gating changes could therefore serve as a tool to distinguish likely disease-causing from non-pathogenic de novo CACNA1D variants in affected individuals. We tested this hypothesis for mutation S652L, which has previously been reported in twins with a severe neurodevelopmental disorder in the Deciphering Developmental Disorder Study, but has not been classified as a novel disease mutation. METHODS: For functional characterization, wild-type and mutant Cav1.3 channel complexes were expressed in tsA-201 cells and tested for typical gain-of-function gating changes using the whole-cell patch-clamp technique. RESULTS: Mutation S652L significantly shifted the voltage-dependence of activation and steady-state inactivation to more negative potentials (~ 13-17 mV) and increased window currents at subthreshold voltages. Moreover, it slowed tail currents and increased Ca(2+)-levels during action potential-like stimulations, characteristic for gain-of-function changes. To provide evidence that only gain-of-function variants confer high disease risk, we also studied missense variant S652W reported in apparently healthy individuals. S652W shifted activation and inactivation to more positive voltages, compatible with a loss-of-function phenotype. Mutation S652L increased the sensitivity of Cav1.3 for inhibition by the dihydropyridine L-type Ca(2+)-channel blocker isradipine by 3-4-fold.Conclusions and limitationsOur data provide evidence that gain-of-function CACNA1D mutations, such as S652L, but not loss-of-function mutations, such as S652W, cause high risk for neurodevelopmental disorders including autism. This adds CACNA1D to the list of novel disease genes identified in the Deciphering Developmental Disorder Study. Although our study does not provide insight into the cellular mechanisms of pathological Cav1.3 signaling in neurons, we provide a unifying mechanism of gain-of-function CACNA1D mutations as a predictor for disease risk, which may allow the establishment of a more reliable diagnosis of affected individuals. Moreover, the increased sensitivity of S652L to isradipine encourages a therapeutic trial in the two affected individuals. This can address the important question to which extent symptoms are responsive to therapy with Ca(2+)-channel blockers. En ligne : http://dx.doi.org/10.1186/s13229-019-0310-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=427 [article] Biophysical classification of a CACNA1D de novo mutation as a high-risk mutation for a severe neurodevelopmental disorder [texte imprimé] / Nadja T. HOFER, Auteur ; Petronel TULUC, Auteur ; Nadine J. ORTNER, Auteur ; Yuliia V. NIKONISHYNA, Auteur ; Monica L. FERNÁNDES-QUINTERO, Auteur ; Klaus R. LIEDL, Auteur ; Bernhard E. FLUCHER, Auteur ; Helen COX, Auteur ; Jörg STRIESSNIG, Auteur . - 4 p. Langues : Anglais (eng) in Molecular Autism > 11 (2020) . - 4 p. Mots-clés : Autism spectrum disorder  cacna1d  Gain-of-function mutation  L-type Ca2+-channels  Neurodevelopmental disorder Index. décimale : PER Périodiques Résumé : BACKGROUND: There is increasing evidence that de novo CACNA1D missense mutations inducing increased Cav1.3 L-type Ca(2+)-channel-function confer a high risk for neurodevelopmental disorders (autism spectrum disorder with and without neurological and endocrine symptoms). Electrophysiological studies demonstrating the presence or absence of typical gain-of-function gating changes could therefore serve as a tool to distinguish likely disease-causing from non-pathogenic de novo CACNA1D variants in affected individuals. We tested this hypothesis for mutation S652L, which has previously been reported in twins with a severe neurodevelopmental disorder in the Deciphering Developmental Disorder Study, but has not been classified as a novel disease mutation. METHODS: For functional characterization, wild-type and mutant Cav1.3 channel complexes were expressed in tsA-201 cells and tested for typical gain-of-function gating changes using the whole-cell patch-clamp technique. RESULTS: Mutation S652L significantly shifted the voltage-dependence of activation and steady-state inactivation to more negative potentials (~ 13-17 mV) and increased window currents at subthreshold voltages. Moreover, it slowed tail currents and increased Ca(2+)-levels during action potential-like stimulations, characteristic for gain-of-function changes. To provide evidence that only gain-of-function variants confer high disease risk, we also studied missense variant S652W reported in apparently healthy individuals. S652W shifted activation and inactivation to more positive voltages, compatible with a loss-of-function phenotype. Mutation S652L increased the sensitivity of Cav1.3 for inhibition by the dihydropyridine L-type Ca(2+)-channel blocker isradipine by 3-4-fold.Conclusions and limitationsOur data provide evidence that gain-of-function CACNA1D mutations, such as S652L, but not loss-of-function mutations, such as S652W, cause high risk for neurodevelopmental disorders including autism. This adds CACNA1D to the list of novel disease genes identified in the Deciphering Developmental Disorder Study. Although our study does not provide insight into the cellular mechanisms of pathological Cav1.3 signaling in neurons, we provide a unifying mechanism of gain-of-function CACNA1D mutations as a predictor for disease risk, which may allow the establishment of a more reliable diagnosis of affected individuals. Moreover, the increased sensitivity of S652L to isradipine encourages a therapeutic trial in the two affected individuals. This can address the important question to which extent symptoms are responsive to therapy with Ca(2+)-channel blockers. En ligne : http://dx.doi.org/10.1186/s13229-019-0310-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=427

Protocadherin Mutations in Neurodevelopmental Disorders / Duyen PHAM  

Public ISBD in Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability / Carlo SALA Titre : Protocadherin Mutations in Neurodevelopmental Disorders Type de document : texte imprimé Auteurs : Duyen PHAM, Auteur ; Chuan TAN, Auteur ; Claire HOMAN, Auteur ; Lachlan JOLLY, Auteur ; Jozef GECZ, Auteur Année de publication : 2016 Importance : p.221-231 Langues : Anglais (eng) Mots-clés : Adhesion molecule  Mutation  Neurodevelopmental disorder  PCDH19  Protocadherin Index. décimale : SCI-D SCI-D - Neurosciences Résumé : Neurodevelopmental disorders such as intellectual disability (ID), epilepsy, autism spectrum disorders (ASDs), schizophrenia (SZ), and bipolar disorder (BD) include cognitive, neurological, and/or psychiatric dysfunction and can be caused by impairment of the brain during development. These disorders are complex and highly heterogeneous and often coexist with other types of co-comorbidities. Mutations in genes encoding for cell adhesion molecules, specifically the delta-2-protocadherin (δ2-PCDH) family have been shown to be associated with a number of these disorders. These genes have crucial roles in early brain development, including neuronal migration, synaptogenesis, and axonal growth. Currently, little is known about how mutations in the protocadherin gene family contribute to the underlying pathogenesis of neurodevelopmental disorders. This review will discusses different neurodevelopmental disorders and the role of their respective associated published δ2-PCDHs mutations, in particular PCDH19, including new insights into novel mutations potentially contributing to these diseases. En ligne : http://dx.doi.org/10.1016/B978-0-12-800109-7.00014-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=301 in Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability / Carlo SALA Protocadherin Mutations in Neurodevelopmental Disorders [texte imprimé] / Duyen PHAM, Auteur ; Chuan TAN, Auteur ; Claire HOMAN, Auteur ; Lachlan JOLLY, Auteur ; Jozef GECZ, Auteur . - 2016 . - p.221-231. Langues : Anglais (eng) Mots-clés : Adhesion molecule  Mutation  Neurodevelopmental disorder  PCDH19  Protocadherin Index. décimale : SCI-D SCI-D - Neurosciences Résumé : Neurodevelopmental disorders such as intellectual disability (ID), epilepsy, autism spectrum disorders (ASDs), schizophrenia (SZ), and bipolar disorder (BD) include cognitive, neurological, and/or psychiatric dysfunction and can be caused by impairment of the brain during development. These disorders are complex and highly heterogeneous and often coexist with other types of co-comorbidities. Mutations in genes encoding for cell adhesion molecules, specifically the delta-2-protocadherin (δ2-PCDH) family have been shown to be associated with a number of these disorders. These genes have crucial roles in early brain development, including neuronal migration, synaptogenesis, and axonal growth. Currently, little is known about how mutations in the protocadherin gene family contribute to the underlying pathogenesis of neurodevelopmental disorders. This review will discusses different neurodevelopmental disorders and the role of their respective associated published δ2-PCDHs mutations, in particular PCDH19, including new insights into novel mutations potentially contributing to these diseases. En ligne : http://dx.doi.org/10.1016/B978-0-12-800109-7.00014-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=301

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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

Atypical brain network development of infants at elevated likelihood for autism spectrum disorder during the first year of life / Fen ZHANG in Autism Research, 15-12 (December 2022)  

Public ISBD [article]  inAutism Research > 15-12 (December 2022) . - p.2223-2237 Titre : Atypical brain network development of infants at elevated likelihood for autism spectrum disorder during the first year of life Type de document : texte imprimé Auteurs : Fen ZHANG, Auteur ; Floor MOERMAN, Auteur ; Haijing NIU, Auteur ; Petra WARREYN, Auteur ; Herbert ROEYERS, Auteur Article en page(s) : p.2223-2237 Langues : Anglais (eng) Mots-clés : Infant  Humans  Autism Spectrum Disorder  Neurodevelopmental Disorders  Brain/diagnostic imaging  Phenotype  autism spectrum disorder  brain network  functional connectivity  functional near-infrared spectroscopy  neurodevelopmental disorder Index. décimale : PER Périodiques Résumé : Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by behavioral features that appear early in life. Although studies have shown that atypical brain functional and structural connectivity are associated with these behavioral traits, the occurrence and initial alterations of brain networks have not been fully investigated. The current study aimed to map early brain network efficiency and information transferring in infants at elevated likelihood (EL) compared to infants at typical likelihood (TL) for ASD in the first year of life. This study used a resting-state functional near-infrared spectroscopy (fNIRS) approach to obtain the length and strength of functional connections in the frontal and temporal areas in 45 5-month-old and 38 10-month-old infants. Modular organization and small-world properties were detected in both EL and TL infants at 5 and 10 months. In 5-month-old EL infants, local and nodal efficiency were significantly greater than age-matched TL infants, indicating overgrown local connections. Furthermore, we used a support vector machine (SVM) model to classify infants with or without EL based on the obtained global properties of the network, achieving an accuracy of 77.6%. These results suggest that infants with EL for ASD exhibit inefficiencies in the organization of brain networks during the first year of life. En ligne : http://dx.doi.org/10.1002/aur.2827 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=488 [article] Atypical brain network development of infants at elevated likelihood for autism spectrum disorder during the first year of life [texte imprimé] / Fen ZHANG, Auteur ; Floor MOERMAN, Auteur ; Haijing NIU, Auteur ; Petra WARREYN, Auteur ; Herbert ROEYERS, Auteur . - p.2223-2237. Langues : Anglais (eng) in Autism Research > 15-12 (December 2022) . - p.2223-2237 Mots-clés : Infant  Humans  Autism Spectrum Disorder  Neurodevelopmental Disorders  Brain/diagnostic imaging  Phenotype  autism spectrum disorder  brain network  functional connectivity  functional near-infrared spectroscopy  neurodevelopmental disorder Index. décimale : PER Périodiques Résumé : Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by behavioral features that appear early in life. Although studies have shown that atypical brain functional and structural connectivity are associated with these behavioral traits, the occurrence and initial alterations of brain networks have not been fully investigated. The current study aimed to map early brain network efficiency and information transferring in infants at elevated likelihood (EL) compared to infants at typical likelihood (TL) for ASD in the first year of life. This study used a resting-state functional near-infrared spectroscopy (fNIRS) approach to obtain the length and strength of functional connections in the frontal and temporal areas in 45 5-month-old and 38 10-month-old infants. Modular organization and small-world properties were detected in both EL and TL infants at 5 and 10 months. In 5-month-old EL infants, local and nodal efficiency were significantly greater than age-matched TL infants, indicating overgrown local connections. Furthermore, we used a support vector machine (SVM) model to classify infants with or without EL based on the obtained global properties of the network, achieving an accuracy of 77.6%. These results suggest that infants with EL for ASD exhibit inefficiencies in the organization of brain networks during the first year of life. En ligne : http://dx.doi.org/10.1002/aur.2827 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=488

Impact of School Closures due to COVID-19 on Children with Neurodevelopmental Disorders in Japan / Naomi KAWAOKA in Journal of Autism and Developmental Disorders, 52-5 (May 2022)  

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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)  

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Autism is a prenatal disorder: Evidence from late gestation brain overgrowth / Frédérique BONNET-BRILHAULT in Autism Research, 11-12 (December 2018)  

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Common vs. Distinct Visuomotor Control Deficits in Autism Spectrum Disorder and Schizophrenia / Loïc CARMENT in Autism Research, 13-6 (June 2020)  

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Detection of small copy number variations (CNVs) in autism spectrum disorder (ASD) by custom array comparative genomic hybridization (aCGH) / Eloisa S. MOREIRA in Research in Autism Spectrum Disorders, 23 (March 2016)  

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