Measurement of Sleep Behaviors in Chromosome 15q11.2-13.1 Duplication (Dup15q Syndrome).
Epilepsy status changes how you read sleep scores in dup15q—always check seizures first.
01Research in Context
What this study did
The team asked the caregivers of kids with dup15q syndrome to fill out the Children’s Sleep Habits Questionnaire.
They also noted if the child had epilepsy.
This was a simple survey study—no fancy gadgets, just paper forms.
What they found
Caregivers said most kids had big sleep problems.
But here’s the twist: kids with epilepsy scored even worse on the same form.
So epilepsy, not just dup15q, drives the high sleep-disturbance numbers.
How this fits with other research
Udhnani et al. (2025) looked at autistic adults and found sleep trouble vanished once anxiety and depression were counted out.
That seems to clash with Barstein et al. (2021), but the difference is epilepsy.
In dup15q, seizures—not autism—push the scores up, while in the adult study mood ruled the night.
Wong et al. (2023) saw the same pattern in FOXG1 syndrome: over half the kids had sleep issues, backing up that rare genetic disorders often come with poor sleep.
Paavonen et al. (2008) also showed more than half of kids with Asperger syndrome had sleep problems, so the story keeps repeating across diagnoses.
Why it matters
Before you trust a high CSHQ score in a child with dup15q, ask about seizures.
If epilepsy is active, treat that first; the sleep data may then look very different.
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02At a glance
03Original abstract
Duplication of chromosome 15q11.2-q13.1 (dup15q syndrome) results in hypotonia, intellectual disability (ID), and autism symptomatology. Clinical electroencephalography has shown abnormal sleep physiology, but no studies have characterized sleep behaviors. The present study used the Children's Sleep Habits Questionnaire (CSHQ) in 42 people with dup15q syndrome to examine the clinical utility of this questionnaire and quantify behavioral sleep patterns in dup15q syndrome. Individuals with fully completed forms (56%) had higher cognitive abilities than those with partially completed forms. Overall, caregivers indicated a high rate of sleep disturbance, though ratings differed by epilepsy status. Results suggest that clinicians should use caution when using standardized questionnaires and consider epilepsy status when screening for sleep problems in dup15q syndrome.
American journal on intellectual and developmental disabilities, 2021 · doi:10.1352/1944-7558-126.6.505