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The interactions between sleep difficulties and clinical features in children with rare genetic syndromes: a

Rory O'Sullivan1,2, Paul Thompson3, Stacey Bissell4

  • 1School of Psychology, University of Birmingham, 52 Pritchatts Road, Birmingham, B15 2TT, UK. r.osullivan@bham.ac.uk.

BMC Pediatrics
|June 5, 2026
PubMed

Insights

Sleep difficulties are common in children with rare genetic syndromes, impacting anxiety, mood, and behavior. Addressing sleep issues may improve clinical outcomes and warrants further investigation into environmental factors.

Area of Science:

  • Pediatric Neurology
  • Sleep Medicine
  • Genetics

Background:

  • Sleep difficulties are prevalent in children with rare genetic syndromes.
  • These sleep issues are linked to challenging behaviors and mental health problems.
  • Limited research exists on sleep patterns in syndromes like KBG and Kleefstra syndrome.

Purpose of the Study:

  • To describe sleep difficulty profiles in understudied rare genetic syndromes.
  • To examine associations between sleep difficulties, clinical features, and demographics, controlling for interactions.
  • To clarify the role of sleep in children's clinical outcomes within rare genetic syndromes.

Main Methods:

  • Caregivers of 251 children (aged 1-18) with rare genetic syndromes completed questionnaires on sleep and clinical features.
  • Sleep profiles were described by syndrome and compared to typically developing children.
  • Structural equation modeling analyzed associations between sleep, clinical features, and demographics, controlling for interactions.

Main Results:

  • Elevated night wakings, bedtime resistance, sleep-disordered breathing, parasomnias, and short sleep duration were common across syndromes.
  • Sleep difficulties were positively associated with anxiety, depression, autism traits, hyperactivity, epilepsy, and physical health severity.
  • Socioeconomic status was associated with sleep difficulties.

Conclusions:

  • Sleep profiles in syndromes like Coffin-Siris, KBG, and Kleefstra syndrome require further investigation.
  • Sleep difficulties are significant predictors of clinical features, indicating sleep is a modifiable target for improving outcomes.
  • The link between sleep difficulties and socioeconomic status suggests environmental factors play a role and need examination.
Abstract

Keywords:
ADHDAutismBehaviours that challengeChildrenEpilepsyGenetic syndromeIntellectual disabilityMental healthSleepSocioeconomic status

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