The Prevalence and Phenomenology of Repetitive Behavior in Genetic Syndromes

J Moss, Christopher Oliver, Kate Arron, C Burbidge, K Berg

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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.
Original languageEnglish
Pages (from-to)572-588
JournalJournal of Autism and Developmental Disorders
Issue number4
Publication statusPublished - 27 Nov 2008


  • Compulsive behavior
  • Behavioral phenotype
  • Repetitive behavior
  • Autism spectrum disorder
  • Stereotyped behavior


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