# Elucidating the causes and consequences of sleep disturbances in children with rare genetic syndromes

> **NIH NIH R21** · UNIVERSITY OF KANSAS MEDICAL CENTER · 2022 · $232,500

## Abstract

PROJECT SUMMARY
Medical management of children with genetically determined neurodevelopmental syndromes represents a
significant public health burden. While these syndromes are individually rare, they are collectively common.
Notably, sleep disturbances are some of the most prevalent co-occurring conditions in these patients. Sleep
quantity and quality is evidenced to be important to neurodevelopment and metabolism. Untreated sleep
disturbances may have long-term negative impacts on neurological function, quality of life and productivity.
While many factors contribute to sleep problems in children with neurodevelopmental syndromes, effective
treatment of these issues reduces severity of numerous other symptoms. This suggests that sleep is a
modifiable risk factor that, when effectively managed, may improve health outcomes and quality of life for these
patients and their families. Understanding the causes and consequences of sleep problems is crucial to
identifying effective approaches to treatment of sleep disturbances. This study proposes to focus on elucidating
the causes and consequences of sleep disturbances in children with Prader-Willi syndrome (PWS), a classical
genetic condition and known cause of early-onset morbid obesity. This will be one of the first studies to use
data derived from electronic health records (EHRs) to evaluate real-world clinical information collected in
children with rare genetic syndromes. We will develop an approach to integrate multiple types of EHR-derived
data to 1) define the types of sleep problems observed in children with PWS, 2) define the relationship
between sleep disordered breathing, symptom severity and expression of other important comorbidities—like
obesity—in PWS, and 3) determine if differences in the molecular genetic classes of PWS are associated with
differences in expression of sleep disturbances. The proposed project offers unprecedented opportunity to
improve our understanding of the relationship between sleep, neurodevelopment, obesity, and genetics in
children. An approach for extracting objective sleep measures from sleep study reports and genetic information
from genetic testing results will be established providing an avenue for identification of novel treatments of
sleep disturbances in children with rare genetic defects.

## Key facts

- **NIH application ID:** 10527175
- **Project number:** 1R21HD107535-01A1
- **Recipient organization:** UNIVERSITY OF KANSAS MEDICAL CENTER
- **Principal Investigator:** Merlin G Butler
- **Activity code:** R21 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2022
- **Award amount:** $232,500
- **Award type:** 1
- **Project period:** 2022-09-01 → 2024-08-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10527175

## Citation

> US National Institutes of Health, RePORTER application 10527175, Elucidating the causes and consequences of sleep disturbances in children with rare genetic syndromes (1R21HD107535-01A1). Retrieved via AI Analytics 2026-05-26 from https://api.ai-analytics.org/grant/nih/10527175. Licensed CC0.

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