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The Prevalence and Phenomenology of Repetitive Behavior in Genetic Syndromes

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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.

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Notes

  1. Only males aged five and upwards were contacted through the Fragile X Society due to an error during administrative procedures. Females with Fragile X syndrome were not included in the study due to reported differences in phenotypic characteristics (Dykens et al. 2000).

  2. FXS and LS groups excluded from analysis due to the X linked nature of the syndromes and exclusion of females in the FXS group.

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Acknowledgements

We are grateful to the Angelman Syndrome Support Education and Research Trust, Cri du Chat Syndrome Support Group, Fragile X Society, Prader-Willi Syndrome Association, Lowe Syndrome Trust UK, Lowe Syndrome Association USA, Smith-Magenis Syndrome Foundation and the Cornelia de Lange Syndrome Foundation (UK and Ireland). Michelle Hooker and Sarah Duffay assisted with data collection.

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  1. Joanna Moss

    Present address: Department of Psychology, Institute of Psychiatry, Kings College London, London, UK

  2. Cheryl Burbidge

    Present address: Department of Psychology, Solihull NHS Trust, Solihull, UK

  3. Katy Berg

    Present address: Department of Psychology, Royal Holloway, University of London, London, UK

Authors and Affiliations

  1. Centre for Neurodevelopmental Disorders, School of Psychology, University of Birmingham, Edgbaston, Birmingham, B15 2TT, UK

    Joanna Moss, Chris Oliver, Kate Arron, Cheryl Burbidge & Katy Berg

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Moss, J., Oliver, C., Arron, K. et al. The Prevalence and Phenomenology of Repetitive Behavior in Genetic Syndromes. J Autism Dev Disord 39, 572–588 (2009). https://doi.org/10.1007/s10803-008-0655-6

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