Sleep disorders in rare genetic syndromes: a meta-analysis of prevalence and profile

Georgie Agar, Chloe Brown, Daniel Sutherland, Sean Coulborn, Chris Oliver, Caroline Richards

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Sleep disorders are common in people with intellectual disability (ID) and autism, with growing evidence of diverse sleep profiles across ID associated genetic syndromes. Documenting the prevalence and profile of specific sleep disorders in syndromes will quantify syndrome-driven ‘risk’, inform prognosis and enhance understanding of aetiology of sleep disorders.

Following PRISMA guidelines for meta-analysis, we searched Ovid PsycINFO, Ovid MEDLINE, Ovid Embase, Web of Science and PubMed Central with use of syndrome-specific keywords and 60 sleep-related search terms. We screened and extracted papers that reported sleep disorder prevalence data for five or more individuals within a genetic syndrome, and applied quality criteria to produce a quality-effects prevalence model of six types of sleep disorder across nineteen syndromes. Relative risk estimates were calculated for the prevalence of each sleep disorder in each syndrome.

Two hundred and seventy three papers were identified, generating 463 prevalence estimates for Angelman, CHARGE, Cornelia de Lange, Down, fragile X, Prader–Willi, Rett, Smith–Magenis and Williams syndromes, mucopolysaccharidoses (MPS disorders), neurofibromatosis and tuberous sclerosis complex. Prevalence estimates were higher in genetic syndromes than published equivalents for typically developing individuals, with few exceptions. Between-syndrome differences for some disorders were evident; sleep-disordered breathing was most prevalent in MPS disorders (72–77%), while excessive daytime sleepiness was highest in Smith–Magenis syndrome (60%). Conversely, insomnia, which was reported at a higher rate than TD estimates in all syndromes except fragile X, was not associated with specific genetic risk. This suggests insomnia could emerge because of the individual’s environment or associated developmental delay, rather than any specific genetic syndromes.

Due to the broad scope of the meta-analysis, only syndromes previously identified as reporting preliminary sleep research were included. Other syndromes may also experience elevated prevalence rates of specific types of sleep disorder. Only English language papers were included.

Differing prevalence rates between types of sleep disorder suggest differing causal mechanisms, such as cranio-facial morphology in Down and Prader–Willi syndromes and the build-up of mucopolysaccharides in MPS disorders. Priorities for clinical assessment and intervention for sleep disorders are discussed.
Original languageEnglish
Article number18
JournalMolecular Autism
Issue number1
Publication statusPublished - 25 Feb 2021

Bibliographical note

Funding: Cerebra funded the study, and had no role in the design of the study, data extraction, analysis or interpretation, or in writing the manuscript.


  • Genetic syndromes
  • Intellectual disability
  • Meta-analysis
  • Prevalence
  • Sleep disorders
  • Sleep profile

ASJC Scopus subject areas

  • Molecular Biology
  • Developmental Neuroscience
  • Developmental Biology
  • Psychiatry and Mental health


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