The prevalence and phenomenology of repetitive behavior in genetic syndromes

J Autism Dev Disord. 2009 Apr;39(4):572-88. doi: 10.1007/s10803-008-0655-6. Epub 2008 Nov 27.

Abstract

We investigated the prevalence and phenomenology of repetitive behavior in genetic syndromes to detail profiles of behavior. The Repetitive Behaviour Questionnaire (RBQ) provides fine-grained identification of repetitive behaviors. The RBQ was employed to examine repetitive behavior in Angelman (N = 104), Cornelia de Lange (N = 101), Cri-du-Chat (N = 58), Fragile X (N = 191), Prader-Willi (N = 189), Lowe (N = 56) and Smith-Magenis (N = 42) syndromes and individuals with intellectual disability of heterogeneous aetiology (N = 56). Repetitive behavior was variable across syndromes. Fragile X syndrome scored highly on all subscales. Angelman syndrome demonstrated a significantly lowered probability for most behaviors. Prader-Willi, Cri-du-Chat and Smith-Magenis syndrome evidenced unique profiles of repetitive behavior. There is extreme heterogeneity of repetitive behavior across genetic syndromes, highlighting syndrome specific profiles.

MeSH terms

  • Adolescent
  • Adult
  • Angelman Syndrome / epidemiology
  • Angelman Syndrome / psychology
  • Child
  • Child, Preschool
  • Cri-du-Chat Syndrome / epidemiology
  • Cri-du-Chat Syndrome / psychology
  • De Lange Syndrome / epidemiology
  • De Lange Syndrome / psychology
  • Female
  • Fragile X Syndrome / epidemiology
  • Fragile X Syndrome / psychology
  • Humans
  • Intellectual Disability / epidemiology*
  • Intellectual Disability / genetics
  • Intellectual Disability / psychology*
  • London
  • Male
  • Middle Aged
  • Phenotype
  • Prader-Willi Syndrome / epidemiology
  • Prader-Willi Syndrome / psychology
  • Prevalence
  • Stereotyped Behavior*
  • Surveys and Questionnaires
  • Syndrome
  • Young Adult