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. 2023 Apr;53(4):1462-1475.
doi: 10.1007/s10803-021-05311-2. Epub 2021 Oct 11.

Characterizing Sleep Problems in 16p11.2 Deletion and Duplication

Dana Kamara  1   2 , Paul De Boeck  3 , Luc Lecavalier  4 , Emily Neuhaus  5 , Theodore P Beauchaine  6
Affiliations

Characterizing Sleep Problems in 16p11.2 Deletion and Duplication

Dana Kamara et al. J Autism Dev Disord. 2023 Apr.

Abstract

Studies of 16p11.2 copy number variants (CNVs) provide an avenue to identify mechanisms of impairment and develop targeted treatments for individuals with neurodevelopmental disorders. 16p11.2 deletion and duplication phenotypes are currently being ascertained; however, sleep disturbances are minimally described. In this study, we examine sleep disturbance in a well-characterized national sample of 16p11.2 CNVs, the Simons Foundation Autism Research Initiative (SFARI) database of youth and adults (n = 692). Factor analyses and multilevel models of derived sleep questionnaires for youth (n = 345) and adults (n = 347) indicate that 16p11.2 carriers show elevated sleep disturbance relative to community controls. Non-carrier family members also show elevated sleep disturbance. However, sleep duration does not differ between carriers and controls. Further studies of sleep in 16p11.2 are needed.

Keywords: 16p11.2; Autism spectrum disorder; Genetics; Neurodevelopmental disorder; Sleep.

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