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Autism Spectrum Disorder, Developmental and Psychiatric Features in 16p11.2 Duplication / LeeAnne GREEN SNYDER in Journal of Autism and Developmental Disorders, 46-8 (August 2016)
[article]
Titre : Autism Spectrum Disorder, Developmental and Psychiatric Features in 16p11.2 Duplication Type de document : Texte imprimé et/ou numérique Auteurs : LeeAnne GREEN SNYDER, Auteur ; Debra D’ANGELO, Auteur ; Qixuan CHEN, Auteur ; Raphael BERNIER, Auteur ; Robin P. GOIN-KOCHEL, Auteur ; Arianne S. WALLACE, Auteur ; Jennifer GERDTS, Auteur ; Stephen M. KANNE, Auteur ; Leandra N. BERRY, Auteur ; Lisa BLASKEY, Auteur ; Emily KUSCHNER, Auteur ; Timothy ROBERTS, Auteur ; Elliot SHERR, Auteur ; Christa L. MARTIN, Auteur ; David H. LEDBETTER, Auteur ; John E. SPIRO, Auteur ; Wendy K. CHUNG, Auteur ; Ellen HANSON, Auteur Article en page(s) : p.2734-2748 Langues : Anglais (eng) Mots-clés : 16p11.2 duplication Genetics Neuropsychological Autism Intellectual disability Cognitive Index. décimale : PER Périodiques Résumé : The 16p11.2 duplication (BP4–BP5) is associated with Autism Spectrum Disorder (ASD), although significant heterogeneity exists. Quantitative ASD, behavioral and neuropsychological measures and DSM-IV diagnoses in child and adult carriers were compared with familial non-carrier controls, and to published results from deletion carriers. The 16p11.2 duplication phenotype ranges widely from asymptomatic presentation to significant disability. The most common diagnoses were intellectual disability, motor delays and Attention Deficit Hyperactivity Disorder in children, and anxiety in adults. ASD occurred in nearly 20 % of child cases, but a majority of carriers did not show the unique social features of ASD. The 16p11.2 duplication phenotype is characterized by wider variability than the reciprocal deletion, likely reflecting contributions from additional risk factors. En ligne : http://dx.doi.org/10.1007/s10803-016-2807-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=291
in Journal of Autism and Developmental Disorders > 46-8 (August 2016) . - p.2734-2748[article] Autism Spectrum Disorder, Developmental and Psychiatric Features in 16p11.2 Duplication [Texte imprimé et/ou numérique] / LeeAnne GREEN SNYDER, Auteur ; Debra D’ANGELO, Auteur ; Qixuan CHEN, Auteur ; Raphael BERNIER, Auteur ; Robin P. GOIN-KOCHEL, Auteur ; Arianne S. WALLACE, Auteur ; Jennifer GERDTS, Auteur ; Stephen M. KANNE, Auteur ; Leandra N. BERRY, Auteur ; Lisa BLASKEY, Auteur ; Emily KUSCHNER, Auteur ; Timothy ROBERTS, Auteur ; Elliot SHERR, Auteur ; Christa L. MARTIN, Auteur ; David H. LEDBETTER, Auteur ; John E. SPIRO, Auteur ; Wendy K. CHUNG, Auteur ; Ellen HANSON, Auteur . - p.2734-2748.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 46-8 (August 2016) . - p.2734-2748
Mots-clés : 16p11.2 duplication Genetics Neuropsychological Autism Intellectual disability Cognitive Index. décimale : PER Périodiques Résumé : The 16p11.2 duplication (BP4–BP5) is associated with Autism Spectrum Disorder (ASD), although significant heterogeneity exists. Quantitative ASD, behavioral and neuropsychological measures and DSM-IV diagnoses in child and adult carriers were compared with familial non-carrier controls, and to published results from deletion carriers. The 16p11.2 duplication phenotype ranges widely from asymptomatic presentation to significant disability. The most common diagnoses were intellectual disability, motor delays and Attention Deficit Hyperactivity Disorder in children, and anxiety in adults. ASD occurred in nearly 20 % of child cases, but a majority of carriers did not show the unique social features of ASD. The 16p11.2 duplication phenotype is characterized by wider variability than the reciprocal deletion, likely reflecting contributions from additional risk factors. En ligne : http://dx.doi.org/10.1007/s10803-016-2807-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=291 Evaluating heterogeneity in ASD symptomatology, cognitive ability, and adaptive functioning among 16p11.2 CNV carriers / Caitlin M. HUDAC in Autism Research, 13-8 (August 2020)
[article]
Titre : Evaluating heterogeneity in ASD symptomatology, cognitive ability, and adaptive functioning among 16p11.2 CNV carriers Type de document : Texte imprimé et/ou numérique Auteurs : Caitlin M. HUDAC, Auteur ; Joanna BOVE, Auteur ; Shelley BARBER, Auteur ; Michael DUYZEND, Auteur ; Ari WALLACE, Auteur ; Christa Lese MARTIN, Auteur ; David H. LEDBETTER, Auteur ; Ellen HANSON, Auteur ; Robin P GOIN-KOCHEL, Auteur ; LeeAnne GREEN SNYDER, Auteur ; Wendy K. CHUNG, Auteur ; Evan E. EICHLER, Auteur ; Raphael BERNIER, Auteur Article en page(s) : p.1300-1310 Langues : Anglais (eng) Mots-clés : 16p11.2 deletion 16p11.2 duplication adaptive functioning autism spectrum disorder cognitive functioning individual variability/heterogeneity Index. décimale : PER Périodiques Résumé : Individuals with 16p11.2 copy number variant (CNV) show considerable phenotypic heterogeneity. Although autism spectrum disorder (ASD) is reported in approximately 20-23% of individuals with 16p11.2 CNVs, ASD-associated symptoms are observed in those without a clinical ASD diagnosis. Previous work has shown that genetic variation and prenatal and perinatal birth complications influence ASD risk and symptom severity. This study examined the impact of genetic and environmental risk factors on phenotypic heterogeneity among 16p11.2 CNV carriers. Participants included individuals with a 16p11.2 deletion (N = 96) or duplication (N = 77) with exome sequencing from the Simons VIP study. The presence of prenatal factors, perinatal events, additional genetic events, and gender was studied. Regression analyses examined the contribution of each risk factor on ASD symptomatology, cognitive functioning, and adaptive abilities. For deletion carriers, perinatal and additional genetic events were associated with increased ASD symptomatology and decrements in cognitive and adaptive functioning. For duplication carriers, secondary genetic events were associated with greater cognitive impairments. Being female sex was a protective factor for both deletion and duplication carriers. Our findings suggest that ASD-associated risk factors contribute to the variability in symptom presentation in individuals with 16p11.2 CNVs. LAY SUMMARY: There are a wide range of autism spectrum disorder (ASD) symptoms and abilities observed for individuals with genetic changes of the 16p11.2 region. Here, we found perinatal complications contributed to more severe ASD symptoms (deletion carriers) and additional genetic mutations contributed to decreased cognitive abilities (deletion and duplication carriers). A potential protective factor was also observed for females with 16p11.2 variations. Autism Res 2020, 13: 1300-1310. © 2020 International Society for Autism Research, Wiley Periodicals, Inc. En ligne : http://dx.doi.org/10.1002/aur.2332 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=430
in Autism Research > 13-8 (August 2020) . - p.1300-1310[article] Evaluating heterogeneity in ASD symptomatology, cognitive ability, and adaptive functioning among 16p11.2 CNV carriers [Texte imprimé et/ou numérique] / Caitlin M. HUDAC, Auteur ; Joanna BOVE, Auteur ; Shelley BARBER, Auteur ; Michael DUYZEND, Auteur ; Ari WALLACE, Auteur ; Christa Lese MARTIN, Auteur ; David H. LEDBETTER, Auteur ; Ellen HANSON, Auteur ; Robin P GOIN-KOCHEL, Auteur ; LeeAnne GREEN SNYDER, Auteur ; Wendy K. CHUNG, Auteur ; Evan E. EICHLER, Auteur ; Raphael BERNIER, Auteur . - p.1300-1310.
Langues : Anglais (eng)
in Autism Research > 13-8 (August 2020) . - p.1300-1310
Mots-clés : 16p11.2 deletion 16p11.2 duplication adaptive functioning autism spectrum disorder cognitive functioning individual variability/heterogeneity Index. décimale : PER Périodiques Résumé : Individuals with 16p11.2 copy number variant (CNV) show considerable phenotypic heterogeneity. Although autism spectrum disorder (ASD) is reported in approximately 20-23% of individuals with 16p11.2 CNVs, ASD-associated symptoms are observed in those without a clinical ASD diagnosis. Previous work has shown that genetic variation and prenatal and perinatal birth complications influence ASD risk and symptom severity. This study examined the impact of genetic and environmental risk factors on phenotypic heterogeneity among 16p11.2 CNV carriers. Participants included individuals with a 16p11.2 deletion (N = 96) or duplication (N = 77) with exome sequencing from the Simons VIP study. The presence of prenatal factors, perinatal events, additional genetic events, and gender was studied. Regression analyses examined the contribution of each risk factor on ASD symptomatology, cognitive functioning, and adaptive abilities. For deletion carriers, perinatal and additional genetic events were associated with increased ASD symptomatology and decrements in cognitive and adaptive functioning. For duplication carriers, secondary genetic events were associated with greater cognitive impairments. Being female sex was a protective factor for both deletion and duplication carriers. Our findings suggest that ASD-associated risk factors contribute to the variability in symptom presentation in individuals with 16p11.2 CNVs. LAY SUMMARY: There are a wide range of autism spectrum disorder (ASD) symptoms and abilities observed for individuals with genetic changes of the 16p11.2 region. Here, we found perinatal complications contributed to more severe ASD symptoms (deletion carriers) and additional genetic mutations contributed to decreased cognitive abilities (deletion and duplication carriers). A potential protective factor was also observed for females with 16p11.2 variations. Autism Res 2020, 13: 1300-1310. © 2020 International Society for Autism Research, Wiley Periodicals, Inc. En ligne : http://dx.doi.org/10.1002/aur.2332 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=430