Childhood Academic Performance: A Potential Marker of Genetic Liability to Autism / Janna GUILFOYLE in Journal of Autism and Developmental Disorders, 53-5 (May 2023)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 53-5 (May 2023) . - p.1989-2005 Titre : Childhood Academic Performance: A Potential Marker of Genetic Liability to Autism Type de document : texte imprimé Auteurs : Janna GUILFOYLE, Auteur ; Molly WINSTON, Auteur ; John SIDERIS, Auteur ; Gary E. MARTIN, Auteur ; Kritika NAYAR, Auteur ; Lauren BUSH, Auteur ; Tom WASSINK, Auteur ; Molly LOSH, Auteur Article en page(s) : p.1989-2005 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Autism spectrum disorder (ASD), a heritable neurodevelopmental disorder, confers genetic liability that is often expressed among relatives through subclinical, genetically-meaningful traits, or endophenotypes. For instance, relative to controls, parents of individuals with ASD differ in language-related skills, with differences emerging in childhood. To examine ASD-related endophenotypes, this study investigated developmental academic profiles among clinically unaffected siblings of individuals with ASD (n=29). Lower performance in language-related skills among siblings mirrored previously-reported patterns among parents, which were also associated with greater subclinical ASD-related traits in themselves and their parents, and with greater symptom severity in their sibling with ASD. Findings demonstrated specific phenotypes, derived from standardized academic testing, that may represent childhood indicators of genetic liability to ASD in first-degree relatives. En ligne : https://doi.org/10.1007/s10803-022-05459-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=501 [article] Childhood Academic Performance: A Potential Marker of Genetic Liability to Autism [texte imprimé] / Janna GUILFOYLE, Auteur ; Molly WINSTON, Auteur ; John SIDERIS, Auteur ; Gary E. MARTIN, Auteur ; Kritika NAYAR, Auteur ; Lauren BUSH, Auteur ; Tom WASSINK, Auteur ; Molly LOSH, Auteur . - p.1989-2005. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 53-5 (May 2023) . - p.1989-2005 Index. décimale : PER Périodiques Résumé : Autism spectrum disorder (ASD), a heritable neurodevelopmental disorder, confers genetic liability that is often expressed among relatives through subclinical, genetically-meaningful traits, or endophenotypes. For instance, relative to controls, parents of individuals with ASD differ in language-related skills, with differences emerging in childhood. To examine ASD-related endophenotypes, this study investigated developmental academic profiles among clinically unaffected siblings of individuals with ASD (n=29). Lower performance in language-related skills among siblings mirrored previously-reported patterns among parents, which were also associated with greater subclinical ASD-related traits in themselves and their parents, and with greater symptom severity in their sibling with ASD. Findings demonstrated specific phenotypes, derived from standardized academic testing, that may represent childhood indicators of genetic liability to ASD in first-degree relatives. En ligne : https://doi.org/10.1007/s10803-022-05459-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=501

Developmental Markers of Genetic Liability to Autism in Parents: A Longitudinal, Multigenerational Study / Molly LOSH in Journal of Autism and Developmental Disorders, 47-3 (March 2017)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 47-3 (March 2017) . - p.834-845 Titre : Developmental Markers of Genetic Liability to Autism in Parents: A Longitudinal, Multigenerational Study Type de document : texte imprimé Auteurs : Molly LOSH, Auteur ; Gary E. MARTIN, Auteur ; Michelle LEE, Auteur ; Jessica KLUSEK, Auteur ; John SIDERIS, Auteur ; Sheila BARRON, Auteur ; Thomas WASSINK, Auteur Article en page(s) : p.834-845 Langues : Anglais (eng) Mots-clés : Autism  Genetics  Endophenotype  Longitudinal  Broad autism phenotype  Language Index. décimale : PER Périodiques Résumé : Genetic liability to autism spectrum disorder (ASD) can be expressed in unaffected relatives through subclinical, genetically meaningful traits, or endophenotypes. This study aimed to identify developmental endophenotypes in parents of individuals with ASD by examining parents’ childhood academic development over the school-age period. A cohort of 139 parents of individuals with ASD were studied, along with their children with ASD and 28 controls. Parents’ childhood records in the domains of language, reading, and math were studied from grades K-12. Results indicated that relatively lower performance and slower development of skills (particularly language related skills), and an uneven rate of development across domains predicted ASD endophenotypes in adulthood for parents, and the severity of clinical symptoms in children with ASD. These findings may mark childhood indicators of genetic liability to ASD in parents, that could inform understanding of the subclinical expression of ASD genetic liability. En ligne : http://dx.doi.org/10.1007/s10803-016-2996-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=304 [article] Developmental Markers of Genetic Liability to Autism in Parents: A Longitudinal, Multigenerational Study [texte imprimé] / Molly LOSH, Auteur ; Gary E. MARTIN, Auteur ; Michelle LEE, Auteur ; Jessica KLUSEK, Auteur ; John SIDERIS, Auteur ; Sheila BARRON, Auteur ; Thomas WASSINK, Auteur . - p.834-845. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 47-3 (March 2017) . - p.834-845 Mots-clés : Autism  Genetics  Endophenotype  Longitudinal  Broad autism phenotype  Language Index. décimale : PER Périodiques Résumé : Genetic liability to autism spectrum disorder (ASD) can be expressed in unaffected relatives through subclinical, genetically meaningful traits, or endophenotypes. This study aimed to identify developmental endophenotypes in parents of individuals with ASD by examining parents’ childhood academic development over the school-age period. A cohort of 139 parents of individuals with ASD were studied, along with their children with ASD and 28 controls. Parents’ childhood records in the domains of language, reading, and math were studied from grades K-12. Results indicated that relatively lower performance and slower development of skills (particularly language related skills), and an uneven rate of development across domains predicted ASD endophenotypes in adulthood for parents, and the severity of clinical symptoms in children with ASD. These findings may mark childhood indicators of genetic liability to ASD in parents, that could inform understanding of the subclinical expression of ASD genetic liability. En ligne : http://dx.doi.org/10.1007/s10803-016-2996-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=304

Novel copy number variants in children with autism and additional developmental anomalies / Lea K. DAVIS in Journal of Neurodevelopmental Disorders, 1-4 (December 2009)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 1-4 (December 2009) . - p.292-301 Titre : Novel copy number variants in children with autism and additional developmental anomalies Type de document : texte imprimé Auteurs : Lea K. DAVIS, Auteur ; K.J. MEYER, Auteur ; D.S. RUDD, Auteur ; A.L. LIBRANT, Auteur ; E.A. EPPING, Auteur ; V.C. SHEFFIELD, Auteur ; Thomas H. WASSINK, Auteur Article en page(s) : p.292-301 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Autism is a neurodevelopmental disorder characterized by three core symptom domains: ritualistic-repetitive behaviors, impaired social interaction, and impaired communication and language development. Recent studies have highlighted etiologically relevant recurrent copy number changes in autism, such as 16p11.2 deletions and duplications, as well as a significant role for unique, novel variants. We used Affymetrix 250K GeneChip Microarray technology (either NspI or StyI) to detect microdeletions and duplications in a subset of children from the Autism Genetic Resource Exchange (AGRE). In order to enrich our sample for potentially pathogenic CNVs we selected children with autism who had additional features suggestive of chromosomal loss associated with developmental disturbance (positive criteria filter) but who had normal cytogenetic testing (negative criteria filter). We identified families with the following features: at least one child with autism who also had facial dysmorphology, limb or digit abnormalities, or ocular abnormalities. To detect changes in copy number we used a publicly available program, Copy Number Analyser for GeneChip(R) (CNAG) Ver. 2.0. We identified novel deletions and duplications on chromosomes 1q24.2, 3p26.2, 4q34.2, and 6q24.3. Several of these deletions and duplications include new and interesting candidate genes for autism such as syntaxin binding protein 5 (STXBP5 also known as tomosyn) and leucine rich repeat neuronal 1 (LRRN1 also known as NLRR1). Lastly, our data suggest that rare and potentially pathogenic microdeletions and duplications may have a substantially higher prevalence in children with autism and additional developmental anomalies than in children with autism alone. En ligne : http://dx.doi.org/10.1007/s11689-009-9013-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=342 [article] Novel copy number variants in children with autism and additional developmental anomalies [texte imprimé] / Lea K. DAVIS, Auteur ; K.J. MEYER, Auteur ; D.S. RUDD, Auteur ; A.L. LIBRANT, Auteur ; E.A. EPPING, Auteur ; V.C. SHEFFIELD, Auteur ; Thomas H. WASSINK, Auteur . - p.292-301. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 1-4 (December 2009) . - p.292-301 Index. décimale : PER Périodiques Résumé : Autism is a neurodevelopmental disorder characterized by three core symptom domains: ritualistic-repetitive behaviors, impaired social interaction, and impaired communication and language development. Recent studies have highlighted etiologically relevant recurrent copy number changes in autism, such as 16p11.2 deletions and duplications, as well as a significant role for unique, novel variants. We used Affymetrix 250K GeneChip Microarray technology (either NspI or StyI) to detect microdeletions and duplications in a subset of children from the Autism Genetic Resource Exchange (AGRE). In order to enrich our sample for potentially pathogenic CNVs we selected children with autism who had additional features suggestive of chromosomal loss associated with developmental disturbance (positive criteria filter) but who had normal cytogenetic testing (negative criteria filter). We identified families with the following features: at least one child with autism who also had facial dysmorphology, limb or digit abnormalities, or ocular abnormalities. To detect changes in copy number we used a publicly available program, Copy Number Analyser for GeneChip(R) (CNAG) Ver. 2.0. We identified novel deletions and duplications on chromosomes 1q24.2, 3p26.2, 4q34.2, and 6q24.3. Several of these deletions and duplications include new and interesting candidate genes for autism such as syntaxin binding protein 5 (STXBP5 also known as tomosyn) and leucine rich repeat neuronal 1 (LRRN1 also known as NLRR1). Lastly, our data suggest that rare and potentially pathogenic microdeletions and duplications may have a substantially higher prevalence in children with autism and additional developmental anomalies than in children with autism alone. En ligne : http://dx.doi.org/10.1007/s11689-009-9013-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=342

Systematic Screening for Subtelomeric Anomalies in a Clinical Sample of Autism / Thomas H. WASSINK in Journal of Autism and Developmental Disorders, 37-4 (April 2007)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 37-4 (April 2007) . - p.703-708 Titre : Systematic Screening for Subtelomeric Anomalies in a Clinical Sample of Autism Type de document : texte imprimé Auteurs : Thomas H. WASSINK, Auteur ; Molly LOSH, Auteur ; Joseph PIVEN, Auteur ; Val C. SHEFFIELD, Auteur ; Elizabeth ASHLEY, Auteur ; Erik R. WESTIN, Auteur ; Shivanand R. PATIL, Auteur Année de publication : 2007 Article en page(s) : p.703-708 Langues : Anglais (eng) Mots-clés : Autism Chromosomal-anomalies FISH Karyotyping Subtelomere Index. décimale : PER Périodiques Résumé : High-resolution karyotyping detects cytogenetic anomalies in 5–10% of cases of autism. Karyotyping, however, may fail to detect abnormalities of chromosome subtelomeres, which are gene rich regions prone to anomalies. We assessed whether panels of FISH probes targeted for subtelomeres could detect abnormalities beyond those identified by karyotyping in 104 individuals with Pervasive Developmental Disorders (PDDs) drawn from a general clinical population. Four anomalies were detected by karyotyping, while no additional anomalies were detected by subtelomere FISH or by probes targeted for 15q11.2q13 or 22q11.2 in subgroups of our sample. We conclude that while karyotyping may be more broadly indicated for autism than previously supposed, subtelomere FISH appears less likely to be a useful screening tool for unselected PDD populations. En ligne : http://dx.doi.org/10.1007/s10803-006-0196-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=973 [article] Systematic Screening for Subtelomeric Anomalies in a Clinical Sample of Autism [texte imprimé] / Thomas H. WASSINK, Auteur ; Molly LOSH, Auteur ; Joseph PIVEN, Auteur ; Val C. SHEFFIELD, Auteur ; Elizabeth ASHLEY, Auteur ; Erik R. WESTIN, Auteur ; Shivanand R. PATIL, Auteur . - 2007 . - p.703-708. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 37-4 (April 2007) . - p.703-708 Mots-clés : Autism Chromosomal-anomalies FISH Karyotyping Subtelomere Index. décimale : PER Périodiques Résumé : High-resolution karyotyping detects cytogenetic anomalies in 5–10% of cases of autism. Karyotyping, however, may fail to detect abnormalities of chromosome subtelomeres, which are gene rich regions prone to anomalies. We assessed whether panels of FISH probes targeted for subtelomeres could detect abnormalities beyond those identified by karyotyping in 104 individuals with Pervasive Developmental Disorders (PDDs) drawn from a general clinical population. Four anomalies were detected by karyotyping, while no additional anomalies were detected by subtelomere FISH or by probes targeted for 15q11.2q13 or 22q11.2 in subgroups of our sample. We conclude that while karyotyping may be more broadly indicated for autism than previously supposed, subtelomere FISH appears less likely to be a useful screening tool for unselected PDD populations. En ligne : http://dx.doi.org/10.1007/s10803-006-0196-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=973

Testing for association of the monoamine oxidase A promoter polymorphism with brain structure volumes in both autism and the fragile X syndrome / Thomas H. WASSINK in Journal of Neurodevelopmental Disorders, 6-1 (December 2014)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 6-1 (December 2014) . - p.6 Titre : Testing for association of the monoamine oxidase A promoter polymorphism with brain structure volumes in both autism and the fragile X syndrome Type de document : texte imprimé Auteurs : Thomas H. WASSINK, Auteur ; Heather C. HAZLETT, Auteur ; Lea K. DAVIS, Auteur ; Allan L. REISS, Auteur ; Joseph PIVEN, Auteur Article en page(s) : p.6 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : BACKGROUND: Autism and the fragile X syndrome (FXS) are related to each other genetically and symptomatically. A cardinal biological feature of both disorders is abnormalities of cerebral cortical brain volumes. We have previously shown that the monoamine oxidase A (MAOA) promoter polymorphism is associated with cerebral cortical volumes in children with autism, and we now sought to determine whether the association was also present in children with FXS. METHODS: Participants included 47 2-year-old Caucasian boys with FXS, some of whom also had autism, as well as 34 2-year-old boys with idiopathic autism analyzed in a previous study. The MAOA promoter polymorphism was genotyped and tested for relationships with gray and white matter volumes of the cerebral cortical lobes and cerebro-spinal fluid volume of the lateral ventricles. RESULTS: MAOA genotype effects in FXS children were the same as those previously observed in idiopathic autism: the low activity MAOA promoter polymorphism allele was associated with increased gray and white matter volumes in all cerebral lobes. The effect was most pronounced in frontal lobe gray matter and all three white matter regions: frontal gray, F = 4.39, P = 0.04; frontal white, F = 5.71, P = 0.02; temporal white, F = 4.73, P = 0.04; parieto-occipital white, F = 5.00, P = 0.03. Analysis of combined FXS and idiopathic autism samples produced P values for these regions <0.01 and effect sizes of approximately 0.10. CONCLUSIONS: The MAOA promoter polymorphism is similarly associated with brain structure volumes in both idiopathic autism and FXS. These data illuminate a number of important aspects of autism and FXS heritability: a genetic effect on a core biological trait of illness, the specificity/generalizability of the genetic effect, and the utility of examining individual genetic effects on the background of a single gene disorder such as FXS. En ligne : http://dx.doi.org/10.1186/1866-1955-6-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=346 [article] Testing for association of the monoamine oxidase A promoter polymorphism with brain structure volumes in both autism and the fragile X syndrome [texte imprimé] / Thomas H. WASSINK, Auteur ; Heather C. HAZLETT, Auteur ; Lea K. DAVIS, Auteur ; Allan L. REISS, Auteur ; Joseph PIVEN, Auteur . - p.6. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 6-1 (December 2014) . - p.6 Index. décimale : PER Périodiques Résumé : BACKGROUND: Autism and the fragile X syndrome (FXS) are related to each other genetically and symptomatically. A cardinal biological feature of both disorders is abnormalities of cerebral cortical brain volumes. We have previously shown that the monoamine oxidase A (MAOA) promoter polymorphism is associated with cerebral cortical volumes in children with autism, and we now sought to determine whether the association was also present in children with FXS. METHODS: Participants included 47 2-year-old Caucasian boys with FXS, some of whom also had autism, as well as 34 2-year-old boys with idiopathic autism analyzed in a previous study. The MAOA promoter polymorphism was genotyped and tested for relationships with gray and white matter volumes of the cerebral cortical lobes and cerebro-spinal fluid volume of the lateral ventricles. RESULTS: MAOA genotype effects in FXS children were the same as those previously observed in idiopathic autism: the low activity MAOA promoter polymorphism allele was associated with increased gray and white matter volumes in all cerebral lobes. The effect was most pronounced in frontal lobe gray matter and all three white matter regions: frontal gray, F = 4.39, P = 0.04; frontal white, F = 5.71, P = 0.02; temporal white, F = 4.73, P = 0.04; parieto-occipital white, F = 5.00, P = 0.03. Analysis of combined FXS and idiopathic autism samples produced P values for these regions <0.01 and effect sizes of approximately 0.10. CONCLUSIONS: The MAOA promoter polymorphism is similarly associated with brain structure volumes in both idiopathic autism and FXS. These data illuminate a number of important aspects of autism and FXS heritability: a genetic effect on a core biological trait of illness, the specificity/generalizability of the genetic effect, and the utility of examining individual genetic effects on the background of a single gene disorder such as FXS. En ligne : http://dx.doi.org/10.1186/1866-1955-6-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=346

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