Showing papers by "Sarah Curran published in 2020"
Cardiff University1, Syracuse University2, Semel Institute for Neuroscience and Human Behavior3, University of Washington4, Columbia University5, Children's Hospital of Philadelphia6, University of Pennsylvania7, University of Belgrade8, Centre for Addiction and Mental Health9, Trinity College, Dublin10, Baylor College of Medicine11, Boston Children's Hospital12, Centre Hospitalier Universitaire Sainte-Justine13, Université de Montréal14, State University of New York System15, University of Lausanne16, University of Toronto17, Seattle Children's18
TL;DR: Using clinical cut-offs, it is found that 54% of individuals with one of the 4 CNVs who did not meet full autism diagnostic criteria nonetheless had elevated levels of autistic traits, and a range of profile differences were identified.
Abstract: Objective Certain copy number variants (CNVs) greatly increase risk of autism. We conducted a genetics-first study to investigate whether heterogeneity in the clinical presentation of autism is underpinned by specific genotype-phenotype relationships. Methods This international study included 547 individuals (12.3 years (SD=4.2), 54% male) who were ascertained on the basis of having a genetic diagnosis of a rare CNV associated with high risk of autism (82 16p11.2 deletion carriers, 50 16p11.2 duplication carriers, 370 22q11.2 deletion carriers and 45 22q11.2 duplication carriers), as well as 2027 individuals (9.1 years (SD=4.9), 86% male) with autism of heterogeneous aetiology. The Autism Diagnostic Interview-Revised (ADI-R) and IQ testing were conducted. Results The four genetic variant groups differed in autism severity, autism subdomain profile as well as IQ profile. However, we found substantial variability in phenotypic outcome within individual genetic variant groups (74% to 97% of the variance depending on the trait), whereas variability between groups was low (1% to 21% depending on trait). We compared CNV carriers who met autism criteria, to individuals with heterogeneous autism, and a range of profile differences were identified. Using clinical cut-offs, we found that 54% of individuals with one of the 4 CNVs who did not meet full autism diagnostic criteria nonetheless had elevated levels of autistic traits. Conclusion Many CNV carriers do not meet full diagnostic criteria for autism, but nevertheless meet clinical cut-offs for autistic traits. Although we find profile differences between variants, there is considerable variability in clinical symptoms within the same variant.
31 citations