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Evaluating heterogeneity in ASD symptomatology, cognitive ability, and adaptive functioning among 16p11.2 CNV carriers.
Hudac, Caitlin M; Bove, Joanna; Barber, Shelley; Duyzend, Michael; Wallace, Ari; Martin, Christa Lese; Ledbetter, David H; Hanson, Ellen; Goin-Kochel, Robin P; Green-Snyder, LeeAnne; Chung, Wendy K; Eichler, Evan E; Bernier, Raphael A.
Afiliación
  • Hudac CM; Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, Washington, USA.
  • Bove J; Center for Youth Development and Intervention and Department of Psychology at University of Alabama, Tuscaloosa, Alabama, USA.
  • Barber S; Department of Medicine, University of Washington, Seattle, Washington, USA.
  • Duyzend M; Department of School Psychology, University of Washington, Seattle, Washington, USA.
  • Wallace A; Department of Genome Sciences, University of Washington, Seattle, Washington, USA.
  • Martin CL; Department of School Psychology, University of Washington, Seattle, Washington, USA.
  • Ledbetter DH; Autism and Developmental Medicine Institute, Geisinger, Danville, Pennsylvania, USA.
  • Hanson E; Autism and Developmental Medicine Institute, Geisinger, Danville, Pennsylvania, USA.
  • Goin-Kochel RP; Developmental Medicine, Children's Hospital Boston/Harvard Medical School, Boston, Massachusetts, USA.
  • Green-Snyder L; Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.
  • Chung WK; Simons Foundation, New York, New York, USA.
  • Eichler EE; Department of Pediatrics, Columbia University Irving Medical Center, New York, New York, USA.
  • Bernier RA; Department of Medicine, Columbia University Irving Medical Center, New York, New York, USA.
Autism Res ; 13(8): 1300-1310, 2020 08.
Article en En | MEDLINE | ID: mdl-32597026
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.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Cromosomas Humanos Par 16 / Trastorno del Espectro Autista / Heterocigoto Tipo de estudio: Diagnostic_studies / Risk_factors_studies Límite: Adult / Child / Female / Humans / Male / Pregnancy Idioma: En Revista: Autism Res Asunto de la revista: PSIQUIATRIA / TRANSTORNOS MENTAIS Año: 2020 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Estados Unidos

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Cromosomas Humanos Par 16 / Trastorno del Espectro Autista / Heterocigoto Tipo de estudio: Diagnostic_studies / Risk_factors_studies Límite: Adult / Child / Female / Humans / Male / Pregnancy Idioma: En Revista: Autism Res Asunto de la revista: PSIQUIATRIA / TRANSTORNOS MENTAIS Año: 2020 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Estados Unidos