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Behavioural phenotype of Cornelia de Lange syndrome


A postal questionnaire was used to study 49 individuals with Cornelia de Lange syndrome (including both the classical and the mild forms) to ascertain behavioural phenotype. Ages ranged from early childhood to adulthood (mean age, 10.2 years; SD, 7.8) and the degree of mental retardation from borderline (10%), through mild (8%), moderate (18%), and severe (20%) to profound (43%). A wide variety of symptoms occurred frequently, notably hyperactivity (40%), self injury (44%), daily aggression (49%), and sleep disturbance (55%). These correlated closely with the presence of an autistic like syndrome and with the degree of mental retardation. The frequency and severity of disturbance, continuing beyond childhood, is important when planning the amount and duration of support required by parents.

  • Behaviour disturbance is common in Cornelia de Lange syndrome and becomes more frequent as mental retardation becomes more severe

  • Typical features include hyperactivity, self injury, aggressive behaviour, and sleep disturbance

  • Self injury was more frequent in those over 12 years age

  • An autistic syndrome was a frequent finding, particularly in those with severe mental retardation

  • Cornelia de Lange syndrome
  • behaviour
  • mental retardation
  • autism

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