Sleep problems in youth with WAGR syndrome
Gavriela B Kalish-Schur1, Mahalakshmi Somayaji2, Lisa J Meltzer3
1Julia R. Masterman Laboratory and Demonstration School, Philadelphia, PA, 19130, USA.
Sleep Medicine
|February 27, 2025
Summary
Youth with WAGR syndrome experience significant sleep disturbances and sleep-disordered breathing. Further research is needed to confirm these findings in diverse populations.
Area of Science:
- Pediatric Genetics
- Sleep Medicine
- Rare Diseases
Background:
- WAGR syndrome is an ultra-rare genetic condition linked to BDNF deletion.
- Children with WAGR syndrome may have an increased risk of sleep problems.
- Limited data exist on sleep patterns in this population.
Purpose of the Study:
- To compare sleep disturbances and sleep-disordered breathing in youth with WAGR syndrome versus healthy controls.
- To assess the prevalence of sleep issues in WAGR syndrome.
- To investigate potential links between BDNF deletion status and sleep outcomes.
Main Methods:
- Online surveys were administered to parents of youth with WAGR syndrome and healthy controls.
- Validated instruments included the PROMIS Pediatric Sleep Disturbance item bank and the PSQ-SRBD scale.
- Demographic data and sleep-related information were collected.
Main Results:
- Youth with WAGR syndrome reported significantly higher sleep disturbance scores (p=0.03) and sleep-related breathing disorder scores (p<0.001) compared to controls.
- Nearly all youth with WAGR syndrome (93%) had elevated scores for sleep-related breathing disorders.
- Melatonin use for sleep was more common in the WAGR syndrome group (47% vs 11%).
- One-third of WAGR syndrome youth had a diagnosis of obstructive sleep apnea.
Conclusions:
- Sleep disturbances and sleep-disordered breathing are highly prevalent in youth with WAGR syndrome.
- These findings highlight a significant unmet need for sleep assessment and management in this population.
- Larger studies with polysomnography are recommended to validate these results.
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