1. Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities
- Author
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D’Angelo, Debra, Lebon, Sébastien, Chen, Qixuan, Martin-Brevet, Sandra, Snyder, LeeAnne Green, Hippolyte, Loyse, Hanson, Ellen, Maillard, Anne M, Faucett, W Andrew, Macé, Aurélien, Pain, Aurélie, Bernier, Raphael, Chawner, Samuel JRA, David, Albert, Andrieux, Joris, Aylward, Elizabeth, Baujat, Genevieve, Caldeira, Ines, Conus, Philippe, Ferrari, Carrina, Forzano, Francesca, Gérard, Marion, Goin-Kochel, Robin P, Grant, Ellen, Hunter, Jill V, Isidor, Bertrand, Jacquette, Aurélia, Jønch, Aia E, Keren, Boris, Lacombe, Didier, Le Caignec, Cédric, Martin, Christa Lese, Männik, Katrin, Metspalu, Andres, Mignot, Cyril, Mukherjee, Pratik, Owen, Michael J, Passeggeri, Marzia, Rooryck-Thambo, Caroline, Rosenfeld, Jill A, Spence, Sarah J, Steinman, Kyle J, Tjernagel, Jennifer, Van Haelst, Mieke, Shen, Yiping, Draganski, Bogdan, Sherr, Elliott H, Ledbetter, David H, van den Bree, Marianne BM, Beckmann, Jacques S, Spiro, John E, Reymond, Alexandre, Jacquemont, Sébastien, and Chung, Wendy K
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Biological Psychology ,Psychology ,Intellectual and Developmental Disabilities (IDD) ,Behavioral and Social Science ,Mental Health ,Pediatric ,Clinical Research ,Brain Disorders ,Autism ,Aetiology ,2.1 Biological and endogenous factors ,Mental health ,Adolescent ,Adult ,Autism Spectrum Disorder ,Autistic Disorder ,Case-Control Studies ,Cerebellum ,Child ,Child ,Preschool ,Chromosome Deletion ,Chromosome Disorders ,Chromosome Duplication ,Chromosomes ,Human ,Pair 16 ,Cognition ,Cohort Studies ,Comorbidity ,DNA Copy Number Variations ,Developmental Disabilities ,Epilepsy ,Female ,Humans ,Intellectual Disability ,Male ,Microcephaly ,Middle Aged ,Nervous System Malformations ,Schizophrenia ,Schizophrenic Psychology ,Young Adult ,Cardiff University Experiences of Children With Copy Number Variants (ECHO) Study ,16p11.2 European Consortium ,Simons Variation in Individuals Project (VIP) Consortium ,Other Medical and Health Sciences ,Cognitive Sciences ,Clinical sciences ,Clinical and health psychology - Abstract
ImportanceThe 16p11.2 BP4-BP5 duplication is the copy number variant most frequently associated with autism spectrum disorder (ASD), schizophrenia, and comorbidities such as decreased body mass index (BMI).ObjectivesTo characterize the effects of the 16p11.2 duplication on cognitive, behavioral, medical, and anthropometric traits and to understand the specificity of these effects by systematically comparing results in duplication carriers and reciprocal deletion carriers, who are also at risk for ASD.Design, setting, and participantsThis international cohort study of 1006 study participants compared 270 duplication carriers with their 102 intrafamilial control individuals, 390 reciprocal deletion carriers, and 244 deletion controls from European and North American cohorts. Data were collected from August 1, 2010, to May 31, 2015 and analyzed from January 1 to August 14, 2015. Linear mixed models were used to estimate the effect of the duplication and deletion on clinical traits by comparison with noncarrier relatives.Main outcomes and measuresFindings on the Full-Scale IQ (FSIQ), Nonverbal IQ, and Verbal IQ; the presence of ASD or other DSM-IV diagnoses; BMI; head circumference; and medical data.ResultsAmong the 1006 study participants, the duplication was associated with a mean FSIQ score that was lower by 26.3 points between proband carriers and noncarrier relatives and a lower mean FSIQ score (16.2-11.4 points) in nonproband carriers. The mean overall effect of the deletion was similar (-22.1 points; P 100) compared with the deletion group (P
- Published
- 2016