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Characterizing Sleep Problems in 16p11.2 Deletion and Duplication.

Dana Kamara^1,2, Paul De Boeck³, Luc Lecavalier⁴

¹St. Jude Children's Research Hospital, 262 Danny Thomas Place, Mail Stop 740, Memphis, TN, 38105, USA. dana.kamara@stjude.org.

Journal of Autism and Developmental Disorders

|October 11, 2021

Summary

This summary is machine-generated.

Individuals with 16p11.2 copy number variants (CNVs) experience significant sleep disturbances. These sleep issues were observed in both carriers and their non-carrier family members, warranting further investigation.

Keywords:

16p11.2 Autism spectrum disorder Genetics Neurodevelopmental disorder Sleep

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Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants

Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants

Published on: February 21, 2015

Area of Science:

Genetics
Neurodevelopmental Disorders
Sleep Medicine

Background:

16p11.2 copy number variants (CNVs) are linked to neurodevelopmental disorders.
Phenotypes associated with 16p11.2 deletions and duplications are under investigation.
Sleep disturbances in individuals with 16p11.2 CNVs are not well-characterized.

Purpose of the Study:

To investigate the prevalence and nature of sleep disturbances in individuals with 16p11.2 CNVs.
To compare sleep disturbance levels between 16p11.2 carriers and community controls.
To examine sleep patterns in both youth and adult carriers.

Main Methods:

Utilized data from the Simons Foundation Autism Research Initiative (SFARI) database.
Analyzed a national sample of 692 individuals with 16p11.2 CNVs (345 youth, 347 adults).
Employed factor analyses and multilevel models on derived sleep questionnaires.

Main Results:

16p11.2 carriers exhibited significantly elevated sleep disturbance compared to community controls.
Non-carrier family members also demonstrated increased sleep disturbance.
No significant differences in sleep duration were found between carriers and controls.

Conclusions:

Sleep disturbances are a notable feature in individuals with 16p11.2 CNVs.
The findings suggest potential familial or environmental factors contributing to sleep issues.
Further research is necessary to fully understand and address sleep problems in this population.