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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
PubMed

Insights

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.
Abstract

Keywords:
BDNFMelatoninSleepWAGR syndrome

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