Health and sleep problems in Cornelia de Lange Syndrome: a case control study

SS Hall, Kate Arron, Jennifer Sloneem, Christopher Oliver

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45 Citations (Scopus)
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Background Self-injury, sleep problems and health problems are commonly reported in Cornelia de Lange Syndrome (CdLS) but there are no comparisons with appropriately matched participants. The relationship between these areas and comparison to a control group is warranted. Method 54 individuals with CdLS were compared with 46 participants with intellectual disability (ID) of mixed aetiology who were similar in terms of degree of ID, mobility, age and gender using informant-based measures of health problems, sleep and self-injury. Results Participants with CdLS experienced significantly more current and lifetime health problems with eye problems and gastrointestinal disorders prominent. Although 55% of those with CdLS experienced sleep problems this prevalence was not different from the comparison group. Sleep disorder was not associated with self-injury in the CdLS group, skin problems were associated with severity of self-injury but not presence. Discussion People with CdLS experience a range of significant health problems and have more health concerns than others with the same degree of ID. Although this has been well documented in the past, the current high prevalence of health concerns indicates the need for regular health assessment and appropriate intervention.
Original languageEnglish
Pages (from-to)458-468
Number of pages11
JournalJournal of Intellectual Disability Research
Publication statusPublished - 1 Jan 2008


  • behavioural phenotype
  • Cornelia de Lange syndrome
  • challenging behaviour
  • sleep
  • health
  • intellectual disability


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