Calculating genetic risk for dysfunction in pleiotropic biological processes using whole exome sequencing data / Olivia J. VEATCH in Journal of Neurodevelopmental Disorders, 14 (2022)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 14 (2022) Titre : Calculating genetic risk for dysfunction in pleiotropic biological processes using whole exome sequencing data Type de document : texte imprimé Auteurs : Olivia J. VEATCH, Auteur ; Diego R. MAZZOTTI, Auteur ; Robert T. SCHULTZ, Auteur ; Ted ABEL, Auteur ; Jacob J. MICHAELSON, Auteur ; Edward S. BRODKIN, Auteur ; Birkan TUNC, Auteur ; Susan G. ASSOULINE, Auteur ; Thomas NICKL-JOCKSCHAT, Auteur ; Beth A. MALOW, Auteur ; James S. SUTCLIFFE, Auteur ; Allan I. PACK, Auteur Langues : Anglais (eng) Mots-clés : Adolescent  Autism Spectrum Disorder/complications/genetics  Biological Phenomena  Child  Exome/genetics  Humans  Sleep Wake Disorders/complications/genetics  Exome Sequencing  Autism spectrum disorders  Genetic risk scores  Pleiotropy  Sleep duration  Systems biology Index. décimale : PER Périodiques Résumé : BACKGROUND: Numerous genes are implicated in autism spectrum disorder (ASD). ASD encompasses a wide-range and severity of symptoms and co-occurring conditions; however, the details of how genetic variation contributes to phenotypic differences are unclear. This creates a challenge for translating genetic evidence into clinically useful knowledge. Sleep disturbances are particularly prevalent co-occurring conditions in ASD, and genetics may inform treatment. Identifying convergent mechanisms with evidence for dysfunction that connect ASD and sleep biology could help identify better treatments for sleep disturbances in these individuals. METHODS: To identify mechanisms that influence risk for ASD and co-occurring sleep disturbances, we analyzed whole exome sequence data from individuals in the Simons Simplex Collection (n = 2380). We predicted protein damaging variants (PDVs) in genes currently implicated in either ASD or sleep duration in typically developing children. We predicted a network of ASD-related proteins with direct evidence for interaction with sleep duration-related proteins encoded by genes with PDVs. Overrepresentation analyses of Gene Ontology-defined biological processes were conducted on the resulting gene set. We calculated the likelihood of dysfunction in the top overrepresented biological process. We then tested if scores reflecting genetic dysfunction in the process were associated with parent-reported sleep duration. RESULTS: There were 29 genes with PDVs in the ASD dataset where variation was reported in the literature to be associated with both ASD and sleep duration. A network of 108 proteins encoded by ASD and sleep duration candidate genes with PDVs was identified. The mechanism overrepresented in PDV-containing genes that encode proteins in the interaction network with the most evidence for dysfunction was cerebral cortex development (GO:0,021,987). Scores reflecting dysfunction in this process were associated with sleep durations; the largest effects were observed in adolescents (p = 4.65 × 10(-3)). CONCLUSIONS: Our bioinformatic-driven approach detected a biological process enriched for genes encoding a protein-protein interaction network linking ASD gene products with sleep duration gene products where accumulation of potentially damaging variants in individuals with ASD was associated with sleep duration as reported by the parents. Specifically, genetic dysfunction impacting development of the cerebral cortex may affect sleep by disrupting sleep homeostasis which is evidenced to be regulated by this brain region. Future functional assessments and objective measurements of sleep in adolescents with ASD could provide the basis for more informed treatment of sleep problems in these individuals. En ligne : https://dx.doi.org/10.1186/s11689-022-09448-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574 [article] Calculating genetic risk for dysfunction in pleiotropic biological processes using whole exome sequencing data [texte imprimé] / Olivia J. VEATCH, Auteur ; Diego R. MAZZOTTI, Auteur ; Robert T. SCHULTZ, Auteur ; Ted ABEL, Auteur ; Jacob J. MICHAELSON, Auteur ; Edward S. BRODKIN, Auteur ; Birkan TUNC, Auteur ; Susan G. ASSOULINE, Auteur ; Thomas NICKL-JOCKSCHAT, Auteur ; Beth A. MALOW, Auteur ; James S. SUTCLIFFE, Auteur ; Allan I. PACK, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 14 (2022) Mots-clés : Adolescent  Autism Spectrum Disorder/complications/genetics  Biological Phenomena  Child  Exome/genetics  Humans  Sleep Wake Disorders/complications/genetics  Exome Sequencing  Autism spectrum disorders  Genetic risk scores  Pleiotropy  Sleep duration  Systems biology Index. décimale : PER Périodiques Résumé : BACKGROUND: Numerous genes are implicated in autism spectrum disorder (ASD). ASD encompasses a wide-range and severity of symptoms and co-occurring conditions; however, the details of how genetic variation contributes to phenotypic differences are unclear. This creates a challenge for translating genetic evidence into clinically useful knowledge. Sleep disturbances are particularly prevalent co-occurring conditions in ASD, and genetics may inform treatment. Identifying convergent mechanisms with evidence for dysfunction that connect ASD and sleep biology could help identify better treatments for sleep disturbances in these individuals. METHODS: To identify mechanisms that influence risk for ASD and co-occurring sleep disturbances, we analyzed whole exome sequence data from individuals in the Simons Simplex Collection (n = 2380). We predicted protein damaging variants (PDVs) in genes currently implicated in either ASD or sleep duration in typically developing children. We predicted a network of ASD-related proteins with direct evidence for interaction with sleep duration-related proteins encoded by genes with PDVs. Overrepresentation analyses of Gene Ontology-defined biological processes were conducted on the resulting gene set. We calculated the likelihood of dysfunction in the top overrepresented biological process. We then tested if scores reflecting genetic dysfunction in the process were associated with parent-reported sleep duration. RESULTS: There were 29 genes with PDVs in the ASD dataset where variation was reported in the literature to be associated with both ASD and sleep duration. A network of 108 proteins encoded by ASD and sleep duration candidate genes with PDVs was identified. The mechanism overrepresented in PDV-containing genes that encode proteins in the interaction network with the most evidence for dysfunction was cerebral cortex development (GO:0,021,987). Scores reflecting dysfunction in this process were associated with sleep durations; the largest effects were observed in adolescents (p = 4.65 × 10(-3)). CONCLUSIONS: Our bioinformatic-driven approach detected a biological process enriched for genes encoding a protein-protein interaction network linking ASD gene products with sleep duration gene products where accumulation of potentially damaging variants in individuals with ASD was associated with sleep duration as reported by the parents. Specifically, genetic dysfunction impacting development of the cerebral cortex may affect sleep by disrupting sleep homeostasis which is evidenced to be regulated by this brain region. Future functional assessments and objective measurements of sleep in adolescents with ASD could provide the basis for more informed treatment of sleep problems in these individuals. En ligne : https://dx.doi.org/10.1186/s11689-022-09448-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574

Cognitive, Adaptive, and Psychosocial Differences Between High Ability Youth With and Without Autism Spectrum Disorder / Alissa F. DOOBAY in Journal of Autism and Developmental Disorders, 44-8 (August 2014)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 44-8 (August 2014) . - p.2026-2040 Titre : Cognitive, Adaptive, and Psychosocial Differences Between High Ability Youth With and Without Autism Spectrum Disorder Type de document : texte imprimé Auteurs : Alissa F. DOOBAY, Auteur ; Megan FOLEY-NICPON, Auteur ; Saba R. ALI, Auteur ; Susan G. ASSOULINE, Auteur Article en page(s) : p.2026-2040 Langues : Anglais (eng) Mots-clés : Autism  Gifted  Intelligence  Adaptive functioning  Psychosocial Index. décimale : PER Périodiques Résumé : Research on Autism Spectrum Disorder (ASD) is thriving; however, scant empirical research has investigated how ASD manifests in high ability youth. Further research is necessary to accurately differentiate high ability students with ASD from those without the disorder, and thus decrease the risk of misdiagnosis. The purpose of the present study is to provide an empirical account of the intellectual, adaptive, and psychosocial functioning of high ability youth with and without ASD utilizing a group study design. Forty youth with high cognitive ability and ASD and a control group of 41 youth with high cognitive ability and no psychological diagnosis were included in the study. In comparison to the control group, the ASD group showed poorer functioning on measures of processing speed, adaptive skills, and broad psychological functioning, as perceived by parents and teachers. These findings have significant implications for diagnosing ASD among those with high ability, and the development of related psychological and educational interventions to address talent domains and areas of concern. En ligne : http://dx.doi.org/10.1007/s10803-014-2082-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=236 [article] Cognitive, Adaptive, and Psychosocial Differences Between High Ability Youth With and Without Autism Spectrum Disorder [texte imprimé] / Alissa F. DOOBAY, Auteur ; Megan FOLEY-NICPON, Auteur ; Saba R. ALI, Auteur ; Susan G. ASSOULINE, Auteur . - p.2026-2040. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 44-8 (August 2014) . - p.2026-2040 Mots-clés : Autism  Gifted  Intelligence  Adaptive functioning  Psychosocial Index. décimale : PER Périodiques Résumé : Research on Autism Spectrum Disorder (ASD) is thriving; however, scant empirical research has investigated how ASD manifests in high ability youth. Further research is necessary to accurately differentiate high ability students with ASD from those without the disorder, and thus decrease the risk of misdiagnosis. The purpose of the present study is to provide an empirical account of the intellectual, adaptive, and psychosocial functioning of high ability youth with and without ASD utilizing a group study design. Forty youth with high cognitive ability and ASD and a control group of 41 youth with high cognitive ability and no psychological diagnosis were included in the study. In comparison to the control group, the ASD group showed poorer functioning on measures of processing speed, adaptive skills, and broad psychological functioning, as perceived by parents and teachers. These findings have significant implications for diagnosing ASD among those with high ability, and the development of related psychological and educational interventions to address talent domains and areas of concern. En ligne : http://dx.doi.org/10.1007/s10803-014-2082-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=236

Identifying High Ability Children with DSM-5 Autism Spectrum or Social Communication Disorder: Performance on Autism Diagnostic Instruments / Megan FOLEY-NICPON in Journal of Autism and Developmental Disorders, 47-2 (February 2017)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 47-2 (February 2017) . - p.460-471 Titre : Identifying High Ability Children with DSM-5 Autism Spectrum or Social Communication Disorder: Performance on Autism Diagnostic Instruments Type de document : texte imprimé Auteurs : Megan FOLEY-NICPON, Auteur ; Staci L. FOSENBURG, Auteur ; Kristin G. WURSTER, Auteur ; Susan G. ASSOULINE, Auteur Article en page(s) : p.460-471 Langues : Anglais (eng) Mots-clés : ASD  Autism  High ability  SCD  DSM-5 Index. décimale : PER Périodiques Résumé : This study was a replication of Mazefsky et al.’s (Journal of Autism and Developmental Disabilities 43:1236–1242, 2013) investigation among a sample of 45 high ability children and adolescents diagnosed with ASD under DSM-IV-TR. Items from the ADOS and ADI-R were mapped onto DSM-5 diagnostic criteria for ASD and SCD to determine whether participants would meet either diagnosis under DSM-5. If the ADOS were administered alone, 62% of individuals diagnosed with ASD would no longer meet criteria under DSM-5; however, when the ADI-R and ADOS scores were combined, 100% of individuals would continue to meet ASD diagnosis. The ADOS was determined to be an insufficient measure for SCD due to the small number of algorithm items measuring SCD diagnostic criteria, suggesting the development of SCD measures is required. En ligne : http://dx.doi.org/10.1007/s10803-016-2973-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=303 [article] Identifying High Ability Children with DSM-5 Autism Spectrum or Social Communication Disorder: Performance on Autism Diagnostic Instruments [texte imprimé] / Megan FOLEY-NICPON, Auteur ; Staci L. FOSENBURG, Auteur ; Kristin G. WURSTER, Auteur ; Susan G. ASSOULINE, Auteur . - p.460-471. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 47-2 (February 2017) . - p.460-471 Mots-clés : ASD  Autism  High ability  SCD  DSM-5 Index. décimale : PER Périodiques Résumé : This study was a replication of Mazefsky et al.’s (Journal of Autism and Developmental Disabilities 43:1236–1242, 2013) investigation among a sample of 45 high ability children and adolescents diagnosed with ASD under DSM-IV-TR. Items from the ADOS and ADI-R were mapped onto DSM-5 diagnostic criteria for ASD and SCD to determine whether participants would meet either diagnosis under DSM-5. If the ADOS were administered alone, 62% of individuals diagnosed with ASD would no longer meet criteria under DSM-5; however, when the ADI-R and ADOS scores were combined, 100% of individuals would continue to meet ASD diagnosis. The ADOS was determined to be an insufficient measure for SCD due to the small number of algorithm items measuring SCD diagnostic criteria, suggesting the development of SCD measures is required. En ligne : http://dx.doi.org/10.1007/s10803-016-2973-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=303

Parent, Teacher, and Self Perceptions of Psychosocial Functioning in Intellectually Gifted Children and Adolescents with Autism Spectrum Disorder / Megan FOLEY-NICPON in Journal of Autism and Developmental Disorders, 40-8 (August 2010)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 40-8 (August 2010) . - p.1028-1038 Titre : Parent, Teacher, and Self Perceptions of Psychosocial Functioning in Intellectually Gifted Children and Adolescents with Autism Spectrum Disorder Type de document : texte imprimé Auteurs : Megan FOLEY-NICPON, Auteur ; Alissa F. DOOBAY, Auteur ; Susan G. ASSOULINE, Auteur Année de publication : 2010 Article en page(s) : p.1028-1038 Langues : Anglais (eng) Mots-clés : High-functioning-autism Asperger-syndrome Psychosocial-functioning Intellectually-gifted Behavioral-assessment-scales-for-children second-edition Index. décimale : PER Périodiques Résumé : Parent, teacher, and self-perceptions of 54 high ability students with autism spectrum disorder (ASD) were assessed through administration of the Behavioral Assessment Scales for Children, Second Edition. Parent reports resulted in clinically elevated scores on the Atypicality, Attention Problems, Depression, Hyperactivity, Withdrawal, Activities of Daily Living, Adaptability, and Social Skills subscales, and teacher reports resulted in clinically elevated scores on the Atypicality, Depression, Withdrawal, and Adaptability subscales. Self-report scores were in the average range. Parents and teachers of adolescents reported greater adaptability and fewer symptoms of atypicality than parents and teachers of children. Psychosocial functioning appears impacted in high ability students with ASD and developmental differences in severity may exist. En ligne : http://dx.doi.org/10.1007/s10803-010-0952-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=108 [article] Parent, Teacher, and Self Perceptions of Psychosocial Functioning in Intellectually Gifted Children and Adolescents with Autism Spectrum Disorder [texte imprimé] / Megan FOLEY-NICPON, Auteur ; Alissa F. DOOBAY, Auteur ; Susan G. ASSOULINE, Auteur . - 2010 . - p.1028-1038. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 40-8 (August 2010) . - p.1028-1038 Mots-clés : High-functioning-autism Asperger-syndrome Psychosocial-functioning Intellectually-gifted Behavioral-assessment-scales-for-children second-edition Index. décimale : PER Périodiques Résumé : Parent, teacher, and self-perceptions of 54 high ability students with autism spectrum disorder (ASD) were assessed through administration of the Behavioral Assessment Scales for Children, Second Edition. Parent reports resulted in clinically elevated scores on the Atypicality, Attention Problems, Depression, Hyperactivity, Withdrawal, Activities of Daily Living, Adaptability, and Social Skills subscales, and teacher reports resulted in clinically elevated scores on the Atypicality, Depression, Withdrawal, and Adaptability subscales. Self-report scores were in the average range. Parents and teachers of adolescents reported greater adaptability and fewer symptoms of atypicality than parents and teachers of children. Psychosocial functioning appears impacted in high ability students with ASD and developmental differences in severity may exist. En ligne : http://dx.doi.org/10.1007/s10803-010-0952-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=108

Predicting the Academic Achievement of Gifted Students with Autism Spectrum Disorder / Susan G. ASSOULINE in Journal of Autism and Developmental Disorders, 42-9 (September 2012)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 42-9 (September 2012) . - p.1781-1789 Titre : Predicting the Academic Achievement of Gifted Students with Autism Spectrum Disorder Type de document : texte imprimé Auteurs : Susan G. ASSOULINE, Auteur ; Megan FOLEY-NICPON, Auteur ; Lori DOCKERY, Auteur Année de publication : 2012 Article en page(s) : p.1781-1789 Langues : Anglais (eng) Mots-clés : Autism  Cognitive ability  Academic achievement  Gifted Index. décimale : PER Périodiques Résumé : We are not well informed regarding the ability-achievement relationship for twice-exceptional individuals (very high cognitive ability and a diagnosed disability, e.g., autism spectrum disorder [ASD]). The research question for this investigation (N = 59) focused on the predictability of achievement among variables related to ability and education in a twice-exceptional sample of students (cognitive ability of 120 [91st percentile], or above, and diagnosed with ASD). We determined that WISC-IV Working Memory and Processing Speed Indices were both significantly positively correlated with achievement in math, reading, and written language. WISC Perceptual Reasoning Index was uniquely predictive of Oral Language test scores. Unexpected findings were that ASD diagnosis, Verbal Comprehension Index, and forms of academic acceleration were not related to the dependent variables. En ligne : http://dx.doi.org/10.1007/s10803-011-1403-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=180 [article] Predicting the Academic Achievement of Gifted Students with Autism Spectrum Disorder [texte imprimé] / Susan G. ASSOULINE, Auteur ; Megan FOLEY-NICPON, Auteur ; Lori DOCKERY, Auteur . - 2012 . - p.1781-1789. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 42-9 (September 2012) . - p.1781-1789 Mots-clés : Autism  Cognitive ability  Academic achievement  Gifted Index. décimale : PER Périodiques Résumé : We are not well informed regarding the ability-achievement relationship for twice-exceptional individuals (very high cognitive ability and a diagnosed disability, e.g., autism spectrum disorder [ASD]). The research question for this investigation (N = 59) focused on the predictability of achievement among variables related to ability and education in a twice-exceptional sample of students (cognitive ability of 120 [91st percentile], or above, and diagnosed with ASD). We determined that WISC-IV Working Memory and Processing Speed Indices were both significantly positively correlated with achievement in math, reading, and written language. WISC Perceptual Reasoning Index was uniquely predictive of Oral Language test scores. Unexpected findings were that ASD diagnosis, Verbal Comprehension Index, and forms of academic acceleration were not related to the dependent variables. En ligne : http://dx.doi.org/10.1007/s10803-011-1403-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=180

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