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
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).
FXS and LS groups excluded from analysis due to the X linked nature of the syndromes and exclusion of females in the FXS group.
References
Abrahams, B. S., & Geschwind, D. H. (2008). Advances in autism genetics: On the threshold of a new neurobiology. Nature Reviews Genetics, 9, 341–355.
American Psychiatric Association. (1987, 1994). Diagnostic and statistical manual of mental disorders. Fourth edition (DSM-IV). Washington DC: American Psychiatric Association.
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.
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.
Baron-Cohen, S. (1989). Do autistic children have obsessions and compulsions? The British Journal of Clinical Psychology, 28, 193–199.
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.
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.
Bodfish, J. W., Symons, F. J., & Lewis, M. H. (1998). The Repetitive Behavior Scales-Revised. Western Carolina Research Reports.
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.
Burbidge, C., & Oliver, C. (2008). The Activity Questionnaire. Manual for administration and score interpretation. University of Birmingham.
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.
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.
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.
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.
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.
Cornish, K., & Pigram, J. (1996). Developmental and behavioural characteristics of Cri du Chat syndrome. Archives of Disease in Childhood, 75, 448–450.
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.
Dykens, E. M. (1995). Measuring behavioral phenotypes: Provocations from the ‘new genetics’. American Journal of Mental Retardation, 99, 522–532.
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.
Dykens, E. M., Hodapp, R. M., & Finucane, B. M. (2000). Genetics and mental retardation syndromes. Baltimore, MD: Paul H Brookes Publishing Co.
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.
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.
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.
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.
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.
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.
Gedye, A. (1992). Recognising obsessive-compulsive disorder in clients with developmental disabilities.The Habilitative Mental Healthcare Newsletter, 11, 73–77.
Goodman, W. K., Price, L. H., & Rasmussen, S. A. (1990). Children’s Yale Brown Obsessive Compulsive Scale. New Haven Connecticut: Nfer Nelson.
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.
Guess, D. (1966). The influence of visual and ambulation restrictions on stereotyped behavior. American Journal of Mental Deficiency, 70, 542–547.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
Moss, J., & Oliver, C. (2008). The Repetitive Behaviour Scale. Manual for administration and scorer interpretation. University of Birmingham.
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.
Neibuhr, E. (1978). The Cri-du-Chat syndrome. Human Genetics, 42, 143–156. doi:10.1007/BF00283634.
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.
Opitz, J. M. (1985). Editorial comment: The Brachmann-de Lange syndrome. American Journal of Medical Genetics, 22, 89–102. doi:10.1002/ajmg.1320220110.
Palmer, J., & Jenkins, J. (1982). The ‘Wessex’ behaviour rating system for mentally handicapped people: Reliability study. British Journal of Mental Subnormality, 28, 88–96.
Petty, J., & Oliver, C. (2005). Self-injurious behaviour in people with intellectual disability. Current Opinion in Psychiatry, 18, 484–489.
Rachman, S., & Hodgson, R. (1980). Obsessions and compulsions. Engelwood Cliffs, NJ: Prentice Hall.
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.
Ross, E., Arron, K., & Oliver, C. (2008). The Mood Interest and Pleasure Questionnaire. Manual for administration and scoring. University of Birmingham.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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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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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DOI: https://doi.org/10.1007/s10803-008-0655-6