title: Behavioural phenotype of Cornelia de Lange syndrome: case-control study.
abstract: BACKGROUND
  Cornelia de Lange syndrome is associated with abnormalities on chromosomes 5, 10 and X.
  
  
  OBJECTIVE
  To delineate the behavioural phenotype of Cornelia de Lange syndrome with specific reference to autistic-spectrum disorder.
  
  
  METHODS
  A total of 54 individuals with Cornelia de Lange syndrome (mean age 13.88 years; s.d.=8.58) and 46 comparable individuals with intellectual disability (mean age 13.74 years; s.d.=7.99) were assessed on measures of autistic-spectrum disorder, and adaptive, compulsive and disordered behaviour.
  
  
  RESULTS
  There was no difference between the groups in global behaviour disorder. Severe autism was significantly more prevalent in the syndrome group (32.1%) than the comparison group (7.1%). In addition, the syndrome group also evidenced significantly higher levels of compulsive behaviour.
  
  
  CONCLUSIONS
  These data suggest that autistic-spectrum disorder is part of the behavioural phenotype of Cornelia de Lange syndrome and that compulsive behaviours are evident. Future research should investigate this behavioural phenotype using contemporary diagnostic algorithms for autism with detailed examination of the phenomenology of compulsive behaviours.
authors.affiliation: Centre for Neurodevelopmental Disorders, School of Psychology, University of Birmingham, Edgbaston, Birmingham B15 2TT, UK. c.oliver@bham.ac.uk
authors.forename: Chris
authors.initials: C
authors.lastname: Oliver
authors.forename: Kate
authors.initials: K
authors.lastname: Arron
authors.forename: Jenny
authors.initials: J
authors.lastname: Sloneem
authors.forename: Scott
authors.initials: S
authors.lastname: Hall
mesh_terms: D000293:Adolescent; D000328:Adult; D001321:Autistic Disorder / Q000523:psychology*; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D003147:Communication Disorders / Q000523:psychology; D003192:Compulsive Behavior / Q000523:psychology*; D003635:De Lange Syndrome / Q000523:psychology*; D005260:Female; D006801:Humans; D008297:Male; D010641:Phenotype; D011795:Surveys and Questionnaires; D055815:Young Adult