Journal of Autism and Developmental Disorders

, Volume 39, Issue 4, pp 572–588 | Cite as

The Prevalence and Phenomenology of Repetitive Behavior in Genetic Syndromes

  • Joanna Moss
  • Chris OliverEmail author
  • Kate Arron
  • Cheryl Burbidge
  • Katy Berg
Original Paper


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.


Behavioral phenotype Autism spectrum disorder Repetitive behavior Compulsive behavior Stereotyped behavior 



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.


  1. Abrahams, B. S., & Geschwind, D. H. (2008). Advances in autism genetics: On the threshold of a new neurobiology. Nature Reviews Genetics, 9, 341–355.PubMedCrossRefGoogle Scholar
  2. American Psychiatric Association. (1987, 1994). Diagnostic and statistical manual of mental disorders. Fourth edition (DSM-IV). Washington DC: American Psychiatric Association.Google Scholar
  3. Ando, H., & Yoshimura, I. (1979). Prevalence of maladaptive behavior in retarded children as a function of IQ and age. Journal of Abnormal Child Psychology, 6, 345–349. doi: 10.1007/BF00924737.CrossRefGoogle Scholar
  4. Backes, M., Genc, B., Schreck, J., Doerler, W., Lehmkuhl, G., & von Gontard, A. (2000). Cognitive and behavioral profile of Fragile X boys: Correlations to molecular data. American Journal of Medical Genetics, 95, 150–156. doi:10.1002/1096-8628(20001113)95:2<150::AID-AJMG11>3.0.CO;2-1.PubMedCrossRefGoogle Scholar
  5. Baron-Cohen, S. (1989). Do autistic children have obsessions and compulsions? The British Journal of Clinical Psychology, 28, 193–199.PubMedGoogle Scholar
  6. Baumgardner, T. L., Reiss, A. L., Freund, L. S., & Abrams, M. T. (1995). Specification of the neurobehavioral phenotype in males with Fragile X syndrome. Pediatrics, 95, 744–752.PubMedGoogle Scholar
  7. Berument, S. K., Rutter, M., Lord, C., Pickles, A., & Bailey, A. (1999). Autism Screening Questionnaire: Diagnostic validity. The British Journal of Psychiatry, 175, 444–451.PubMedCrossRefGoogle Scholar
  8. Bodfish, J. W., Symons, F. J., & Lewis, M. H. (1998). The Repetitive Behavior Scales-Revised. Western Carolina Research Reports.Google Scholar
  9. Buckley, R. H., Dinno, N., & Weber, P. (1998). Angelman syndrome: Are the estimates too low. American Journal of Medical Genetics, 80, 385–390. doi:10.1002/(SICI)1096-8628(19981204)80:4<385::AID-AJMG15>3.0.CO;2-9.PubMedCrossRefGoogle Scholar
  10. Burbidge, C., & Oliver, C. (2008). The Activity Questionnaire. Manual for administration and score interpretation. University of Birmingham.Google Scholar
  11. Burd, L., Vesely, B., Martsolf, J., & Kerbeshian, J. (1990). Prevalence study of Prader-Willi syndrome in North Dakota. American Journal of Medical Genetics, 37, 97–99. doi: 10.1002/ajmg.1320370122.PubMedCrossRefGoogle Scholar
  12. Cassidy, S. B., Dykens, E. M., & Williams, C. A. (2000). Prader-Willi and Angelman syndromes: Sister imprinted disorders. American Journal of Medical Genetics, 97, 136–146. doi:10.1002/1096-8628(200022)97:2<136::AID-AJMG5>3.0.CO;2-V.PubMedCrossRefGoogle Scholar
  13. Clarke, D., & Boer, H. (1998). Problem behaviors associated with deletion Prader-Willi, Smith-Magenis and Cri Du Chat syndromes. American Journal of Mental Retardation, 103, 264–271. doi:10.1352/0895-8017(1998)103<0264:PBAWDP>2.0.CO;2.PubMedCrossRefGoogle Scholar
  14. Clarke, D. J., Boer, H., Chung, M. C., Sturmey, P., & Webb, T. (1996). Maladaptive behaviour in Prader-Willi syndrome in adult life. Journal of Intellectual Disability Research, 40, 159–165. PubMedCrossRefGoogle Scholar
  15. Cornish, K., Bramble, D., Munir, F., & Pigram, J. (1999). Cognitive functioning in children with typical cri du chat (5p-) syndrome. Developmental Medicine and Child Neurology, 41, 263–266. doi: 10.1017/S0012162299000559.PubMedCrossRefGoogle Scholar
  16. Cornish, K., & Pigram, J. (1996). Developmental and behavioural characteristics of Cri du Chat syndrome. Archives of Disease in Childhood, 75, 448–450.PubMedCrossRefGoogle Scholar
  17. Deardorff, M. A., Kaur, M., Yaeger, D., Rampuria, A., Korolev, S., Pie, J., Gil-Rodriguez, C., et al. (2007). Mutations in cohesin complex members SMC 3 and SMC1A cause a mild variant of Cornelia de Lange syndrome with pre-dominant mental retardation. American Journal of Human Genetics, 80, 485–494.PubMedCrossRefGoogle Scholar
  18. Dykens, E. M. (1995). Measuring behavioral phenotypes: Provocations from the ‘new genetics’. American Journal of Mental Retardation, 99, 522–532.PubMedGoogle Scholar
  19. Dykens, E. M., Finucane, B. M., & Gayley, C. (1997). Brief report: Cognitive and behavioral profiles in persons with Smith-Magenis syndrome. Journal of Autism and Developmental Disorders, 27, 203–209. doi: 10.1023/A:1025800126086.PubMedCrossRefGoogle Scholar
  20. Dykens, E. M., Hodapp, R. M., & Finucane, B. M. (2000). Genetics and mental retardation syndromes. Baltimore, MD: Paul H Brookes Publishing Co.Google Scholar
  21. Dykens, E. M., & Kasari, C. (1997). Maladaptive behavior in children with Prader-Willi Syndrome, Down Syndrome, and nonspecific mental retardation. American Journal of Mental Retardation, 102, 228–237. doi:10.1352/0895-8017(1997)102<0228:MBICWP>2.0.CO;2.PubMedCrossRefGoogle Scholar
  22. Dykens, E. M., Leckman, J. F., & Cassidy, S. B. (1996). Obsessions and compulsions in Prader-Willi Syndrome. Journal of Child Psychology and Psychiatry and Allied Disciplines, 37, 1003–1014. doi: 10.1111/j.1469-7610.1996.tb01496.x.CrossRefGoogle Scholar
  23. Dykens, E. M., & Smith, A. C. M. (1998). Distinctiveness and correlates of maladaptive behaviour in children and adolescents with Smith-Magenis syndrome. Journal of Intellectual Disability Research, 42, 481–489. doi: 10.1046/j.1365-2788.1998.4260481.x.PubMedCrossRefGoogle Scholar
  24. Evans, D. W., Leckman, J. F., Carter, A., Reznick, J. S., Henshaw, D., King, R. A. et al. (1997). Ritual, habit and perfectionism: The prevalence and development of compulsive-like behaviour in normal young children. Child Development, 68, 58–68.PubMedCrossRefGoogle Scholar
  25. Fazzi, E., Lanners, J., Danova, S., Ferrarri-Ginevra, O., Gheza, C., Luparia, A., et al. (1999). Stereotyped behaviours in blind children. Brain and Development, 21, 522–528. doi: 10.1016/S0387-7604(99)00059-5.PubMedCrossRefGoogle Scholar
  26. Finucane, B. M., Konar, D., Guvler, B. H., Kurtz, M. B., Weinstein, M., & Scott, C. I. (1994). The spasmodic uper-body squeeze: A characteristic behavior in Smith-Magenis syndrome. Developmental Medicine and Child Neurology, 36, 70–83.Google Scholar
  27. Gedye, A. (1992). Recognising obsessive-compulsive disorder in clients with developmental disabilities.The Habilitative Mental Healthcare Newsletter, 11, 73–77.Google Scholar
  28. Goodman, W. K., Price, L. H., & Rasmussen, S. A. (1990). Children’s Yale Brown Obsessive Compulsive Scale. New Haven Connecticut: Nfer Nelson.Google Scholar
  29. Greisberg, S., & McKay, D. (2003). Neuropsychology of obsessive-compulsive disorder: A review and treatment implications. Clinical Psychology Review, 23, 95–117. doi: 10.1016/S0272-7358(02)00232-5.PubMedCrossRefGoogle Scholar
  30. Guess, D. (1966). The influence of visual and ambulation restrictions on stereotyped behavior. American Journal of Mental Deficiency, 70, 542–547.PubMedGoogle Scholar
  31. Hagerman, R. J., Jackson, A. W., Levitas, A., Rimland, B., & Braden, M. (1986). An analysis of autism in fifty males with the Fragile X syndrome. American Journal of Medical Genetics, 23, 359–374. doi: 10.1002/ajmg.1320230128.PubMedCrossRefGoogle Scholar
  32. Hagerman, R. J., & Lampe, M. E. (1999). Fragile X syndrome. In S. Goldstein & C. R. Reynolds (Eds.), Handbook of neurodevelopmental and genetic disorders in children. New York: Guilford Press.Google Scholar
  33. Hodapp, R. M., & Dykens, E. M. (2001). Strengthening behavioral research on genetic mental retardation syndromes. American Journal of Mental Retardation, 106, 4–15. doi:10.1352/0895-8017(2001)106<0004:SBROGM>2.0.CO;2.PubMedCrossRefGoogle Scholar
  34. Hyman, P., Oliver, C., & Hall, S. (2002). Self-injurious behavior, self-restraint, and compulsive behaviors in Cornelia de Lange syndrome. American Journal of Mental Deficiency, 107, 146–154.Google Scholar
  35. Kenworthy, L., & Charnas, L. (1995). Evidence for a discrete behavioral phenotype in the oculocerebrorenal syndrome of Lowe. American Journal of Medical Genetics, 59, 283–290. doi: 10.1002/ajmg.1320590304.PubMedCrossRefGoogle Scholar
  36. Kenworthy, L., Park, T., & Charnas, L. (1993). Cognitive and behavioral profile of the oculocerebrorenal syndrome of Lowe. American Journal of Medical Genetics, 46, 297–303. doi: 10.1002/ajmg.1320460312.PubMedCrossRefGoogle Scholar
  37. Krantz, I. D., McCallum, J., DeScipio, C., Kaur, M., Gillis, L. A., Yaeger, D., et al. (2004). Cornelia de Lange syndrome is caused by mutations in NIBPL, the human homolog of Drosophila melanogaster Nipped-B. Nature Genetics, 6, 631–635. doi: 10.1038/ng1364.CrossRefGoogle Scholar
  38. Kushlick, A., Blunden, R., & Cox, G. (1973). A method for rating behavior characteristics for use in large scale studies of mental handicap. Psychological Medicine, 3, 466–478.PubMedGoogle Scholar
  39. Ledbetter, D. H., Mascarello, J. T., Riccardo, V. M., Harper, V. D., Aairhart, S. D., & Strobel, R. J. (1982). Chromosome 15 abnormalities and the Prader-Willi syndrome: A follow up report of 40 cases. American Journal of Human Genetics, 34, 278–285.PubMedGoogle Scholar
  40. Lewis, M. H., & Bodfish, J. W. (1998). Repetitive behavior disorders in autism. Mental Retardation and Developmental Disabilities, 4, 80–89. doi:10.1002/(SICI)1098-2779(1998)4:2<80::AID-MRDD4>3.0.CO;2-0.CrossRefGoogle Scholar
  41. Lewis, M. H., Tanimura, Y., Lee, L. W., & Bodfish, J. W. (2007). Animal models of restricted repetitive behaviour in autism. Behavioural Brain Research, 176, 66–74. doi: 10.1016/j.bbr.2006.08.023.PubMedCrossRefGoogle Scholar
  42. Magenis, R. E., Brown, M. G., Lacy, D. A., Budden, S., & LaFranchi, S. (1987). Is Angelman syndrome an alternate result of del (15)(q11q13)? American Journal of Medical Genetics, 28, 829–838. doi: 10.1002/ajmg.1320280407.PubMedCrossRefGoogle Scholar
  43. Mazzocco, M. M. (2000). Advances in research on the Fragile X syndrome. Mental Retardation and Developmental Disabilities Research Reviews, 6, 96–106. doi:10.1002/1098-2779(2000)6:2<96::AID-MRDD3>3.0.CO;2-H.PubMedCrossRefGoogle Scholar
  44. Mazzocco, M. M., Pulsifer, M., Fiumara, A., Cocuzza, M., Nigro, E., Incorpora, G., et al. (1998). Brief Report: Autistic behaviors among children with Fragile X or Rett syndrome: Implications for the classification of Pervasive Developmental Disorder. Journal of Autism and Developmental Disorders, 28, 321–328. doi: 10.1023/A:1026012703449.PubMedCrossRefGoogle Scholar
  45. McClintock, K., Hall, S., & Oliver, C. (2003). Risk markers associated with challenging behaviours in people with intellectual disabilities: A meta-analytic study. Journal of Intellectual Disability Research, 47, 405–416. doi: 10.1046/j.1365-2788.2003.00517.x.PubMedCrossRefGoogle Scholar
  46. Moss, J., & Oliver, C. (2008). The Repetitive Behaviour Scale. Manual for administration and scorer interpretation. University of Birmingham.Google Scholar
  47. Musio, A., Selicorni, A., Focorelli, M., Gervasini, C., Milani, D., Russo, S., et al. (2006). X-Linked Cornelia de Lange syndrome owing to SMC1L1 mutations. Nature Genetics, 38, 528–530. doi: 10.1038/ng1779.PubMedCrossRefGoogle Scholar
  48. Neibuhr, E. (1978). The Cri-du-Chat syndrome. Human Genetics, 42, 143–156. doi: 10.1007/BF00283634.CrossRefGoogle Scholar
  49. Nussbaum, R. L., & Suchy, S. F. (2001). The Oculocerebrorenal syndrome of Lowe (Lowe syndrome). In C. R. Schriver, W. S. Sly, B. Childs, A. L. Beaudit, D. Valle, K. W. Kinzler & B. Vogelstein (Eds.), The metabolic and molecular basis of inherited disease (pp. 6257–6266). New York: McGraw-Hill.Google Scholar
  50. Opitz, J. M. (1985). Editorial comment: The Brachmann-de Lange syndrome. American Journal of Medical Genetics, 22, 89–102. doi: 10.1002/ajmg.1320220110.PubMedCrossRefGoogle Scholar
  51. Palmer, J., & Jenkins, J. (1982). The ‘Wessex’ behaviour rating system for mentally handicapped people: Reliability study. British Journal of Mental Subnormality, 28, 88–96.Google Scholar
  52. Petty, J., & Oliver, C. (2005). Self-injurious behaviour in people with intellectual disability. Current Opinion in Psychiatry, 18, 484–489.PubMedCrossRefGoogle Scholar
  53. Rachman, S., & Hodgson, R. (1980). Obsessions and compulsions. Engelwood Cliffs, NJ: Prentice Hall.Google Scholar
  54. Rojhan, J., Tasse, M. J., & Sturmey, P. (1997). The stereotyped behaviour scale for adolescents and adults with mental retardation. American Journal of Mental Retardation, 102, 137–146. CrossRefGoogle Scholar
  55. Ross, E., Arron, K., & Oliver, C. (2008). The Mood Interest and Pleasure Questionnaire. Manual for administration and scoring. University of Birmingham.Google Scholar
  56. Ross Collins, M. S., & Cornish, K. (2002). A survey of the prevalence of stereotypy, self-injury and aggression in children and young adults with Cri du Chat syndrome. Journal of Intellectual Disability Research, 46, 133–140. doi: 10.1046/j.1365-2788.2002.00361.x.CrossRefGoogle Scholar
  57. Sarimski, K. (1997). Communication, social-emotional development and parenting stress in Cornelia de Lange Syndrome. Journal of Intellectual Disability Research, 41, 70–75. doi: 10.1111/j.1365-2788.1997.tb00678.x.PubMedCrossRefGoogle Scholar
  58. Smith, A., & Gropman, A. (2001). Smith Magenis syndrome. In S. B. Cassidy & J. E. Allanson (Eds.), Management of genetic syndromes. New York: Wiley-Liss, Inc.Google Scholar
  59. Steinhausen, H. C., von Gontard, A., Spohr, H. L., Hauffa, B. P., Eiholzer, M. B., Willms, J., et al. (2002). Behavioral phenotype in four mental retardation syndromes: Fetal alcohol syndrome, Prader-Willi syndrome, Fragile X syndrome and Tuberosis Sclerosis. American Journal of Medical Genetics, 111, 381–387. doi: 10.1002/ajmg.10627.PubMedCrossRefGoogle Scholar
  60. Summers, J. A., Allison, D. B., Lynch, P. S., & Sandler, L. (1995). Behaviour problems in Angelman syndrome. Journal of Intellectual Disability Research, 39, 97–106.PubMedCrossRefGoogle Scholar
  61. Tonkin, E. T., Wang, T., Lisgo, S., Bambshad, M. J., & Strachan, T. (2004). NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome. Nature Genetics, 6, 636–641. doi: 10.1038/ng1363.CrossRefGoogle Scholar
  62. Turner, M. (1997). Toward an executive dysfunction account of repetitive behaviour. In J. Russell (Ed.), Autism as an executive disorder (pp. 57–100). Oxford: Oxford University Press.Google Scholar
  63. Vitiello, B., Spreat, S., & Behar, D. (1989). Obsessive-compulsive disorder in mentally retarded patients. The Journal of Nervous and Mental Disease, 177, 232–236. doi: 10.1097/00005053-198904000-00007.PubMedCrossRefGoogle Scholar
  64. Walz, N. C., & Benson, B. A. (2002). Behavioral phenotypes in children with Down syndrome, Prader-Willi syndrome, or Angelman syndrome. Journal of Developmental and Physical Disabilities, 14, 307–321. doi: 10.1023/A:1020326701399.CrossRefGoogle Scholar
  65. Wigren, M., & Hansen, S. (2003). Rituals and compulsivity in Prader-Willi syndrome: Profile and stability. Journal of Intellectual Disability Research, 47, 428–438. doi: 10.1046/j.1365-2788.2003.00515.x.PubMedCrossRefGoogle Scholar
  66. Wilding, J., Cornish, K., & Munir, F. (2002). Further delineation of the executive deficit in males with Fragile X syndrome. Neuropsychologia, 40, 1343–1349. doi: 10.1016/S0028-3932(01)00212-3.PubMedCrossRefGoogle Scholar

Copyright information

© Springer Science+Business Media, LLC 2008

Authors and Affiliations

  • Joanna Moss
    • 1
    • 2
  • Chris Oliver
    • 1
    Email author
  • Kate Arron
    • 1
  • Cheryl Burbidge
    • 1
    • 3
  • Katy Berg
    • 1
    • 4
  1. 1.Centre for Neurodevelopmental Disorders, School of PsychologyUniversity of BirminghamBirminghamUK
  2. 2.Department of Psychology, Institute of PsychiatryKings College LondonLondonUK
  3. 3.Department of PsychologySolihull NHS TrustSolihullUK
  4. 4.Department of Psychology, Royal HollowayUniversity of LondonLondonUK

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