Assessment & Research

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

Kamara et al. (2023) · Journal of autism and developmental disorders 2023
★ The Verdict

People with 16p11.2 CNVs, and even their unaffected relatives, have more sleep problems than typical peers, so screen and treat sleep in this genetic group.

✓ Read this if BCBAs working with clients who have 16p11.2 deletions or duplications
✗ Skip if BCBAs who only serve typically developing clients without genetic diagnoses

01Research in Context

01

What this study did

Kamara et al. (2023) asked parents about sleep in people with 16p11.2 deletions or duplications. They also asked parents of relatives who do not carry the change. Everyone filled out the same sleep survey.

The team compared scores to norms from the general public. They looked at sleep quality, not just hours of sleep.

02

What they found

Carriers and their non-carrier relatives both had more sleep troubles than typical peers. Total sleep time was the same, but falling or staying asleep was harder.

The problems showed up in both kids and adults. If a client has this genetic change, expect night waking, bedtime resistance, or daytime tiredness.

03

How this fits with other research

de Leeuw et al. (2024) studied the same genetic group and found high rates of social and behavior issues. Together, the two papers paint a full picture: expect both daytime behavior needs and nighttime sleep needs.

Smith et al. (2022) showed that these carriers also have sensory problems. Sleep, sensory, and behavior troubles often travel together, so screen all three areas.

Annaz et al. (2011) saw a similar sleep pattern in Williams syndrome. The takeaway: many genetic conditions share sleep risk, so always ask about bedtime.

04

Why it matters

If your client has a 16p11.2 deletion or duplication, add sleep questions to your intake. Poor rest can worsen problem behavior and slow skill gains. A simple bedtime checklist or referral to a sleep clinic can boost daytime ABA success.

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Add a five-question sleep screener to your intake for any client with a 16p11.2 CNV.

02At a glance

Intervention
not applicable
Design
other
Sample size
692
Population
developmental delay, mixed clinical
Finding
positive
Magnitude
medium

03Original 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.

Journal of autism and developmental disorders, 2023 · doi:10.1111/j.1365-2869.2004.00405.x