Abstract
Syndrome specific repetitive behavior profiles have been described previously. A detailed profile is absent for Rubinstein–Taybi syndrome (RTS). The Repetitive Behaviour Questionnaire and Social Communication Questionnaire were completed for children and adults with RTS (N = 87), Fragile-X (N = 196) and Down (N = 132) syndromes, and individuals reaching cut-off for autism spectrum disorder (N = 228). Total and matched group analyses were conducted. A phenotypic profile of repetitive behavior was found in RTS. The majority of behaviors in RTS were not associated with social-communication deficits or degree of disability. Repetitive behavior should be studied at a fine-grained level. A dissociation of the triad of impairments might be evident in RTS.
Similar content being viewed by others
Notes
The Autism Screening Questionnaire (ASQ) was used in the FXS group while the SCQ was used for the other groups. Item 20 (social chat) differed between the versions for nonverbal participants so to ensure consistency this item was treated as missing data and prorated for nonverbal participants by computing the mean score for other completed items within the communication subscale. The use of the prorated item did not alter the significance or direction of results.
References
Alarcón, J. M., Malleret, G., Touzani, K., Vronskaya, S., Ishii, S., Kandel, E. R., et al. (2004). Chromatin acetylation, memory, and LTP are impaired in CBP ± mice: A model for the cognitive deficit in Rubinstein–Taybi syndrome and its amelioration. Neuron, 4(6), 947–959. doi:10.1016/j.neuron.2004.05.021.
American Psychiatric Association. (2013). Diagnostic and statistical manual of mental disorders (5th ed.). Arlington, VA: American Psychiatric Publishing.
Arron, K., Oliver, C., Berg, K., Moss, J., & Burbidge, C. (2011). Prevalence and phenomenology of self-injurious and aggressive behaviour in genetic syndromes. Journal of Intellectual Disability Research, 55(2), 109–120. doi:10.1111/j.1365-2788.2010.01337.x.
Bachara, G. H., & Phelan, W. J. (1980). Rhythmic movement in deaf children. Perceptual and Motor Skills, 50(3), 933–934. doi:10.2466/pms.1980.50.3.933.
Bartak, L., & Rutter, M. (1976). Differences between mentally retarded and normally intelligent autistic children. Journal of Autism and Childhood Schizophrenia, 6(2), 109–120. doi:10.1007/BF01538054.
Baxter, G., & Beer, J. (1992). Rubinstein Taybi syndrome. Psychological Reports, 70(2), 451–456. doi:10.2466/pr0.1992.70.2.451.
Berg, K., Arron, K., Burbidge, C., Moss, J., & Oliver, C. (2007). Carer-reported contemporary health problems in people with severe and profound intellectual disability and genetic syndromes. Journal of Policy and Practice in Intellectual Disabilities, 4(2), 120–128. doi:10.1111/j.1741-1130.2007.00109.x.
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. doi:10.1192/bjp.175.5.444.
Bodfish, J. W., Symons, F. J., Parker, D. E., & Lewis, M. H. (2000). Varieties of repetitive behavior in Autism: Comparisons to mental retardation. Journal of Autism and Developmental Disorders, 30(3), 237–243. doi:10.1023/A:1005596502855.
Burbidge, C., Oliver, C., Moss, J., Arron, K., Berg, K., Hill, L., et al. (2010). The association between repetitive behaviours, impulsivity and hyperactivity in people with intellectual disability. Journal of Intellectual Disability Research, 54(12), 1078–1092. doi:10.1111/j.1365-2788.2010.01338.x.
Cornish, K. M., & Pigram, J. (1996). Developmental and behavioural characteristics of Cri du Chat syndrome. Archives of Disease in Childhood, 75(5), 448–450. doi:10.1136/adc.75.5.448.
Cullen, B., Coen, R. F., Lynch, C. A., Cunningham, C. J., Coakley, D., Robertson, I. H., et al. (2005). Repetitive behaviour in Alzheimer’s disease: description, correlates and functions. International Journal of Geriatric Psychiatry, 20(7), 686–693. doi:10.1002/gps.1344.
Gabriels, R. L., Cuccaro, M. L., Hill, D. E., Ivers, B. J., & Goldson, E. (2005). Repetitive behaviors in autism: Relationships with associated clinical features. Research in Developmental Disabilities, 26(2), 169–181. doi:10.1016/j.ridd.2004.05.003.
Galéra, C., Taupiac, E., Fraisse, S., Naudion, S., Toussaint, E., Rooryck-Thambo, C., et al. (2009). Socio-behavioral characteristics of children with Rubinstein–Taybi syndrome. Journal of Autism and Developmental Disorders, 39(9), 1252–1260. doi:10.1007/s10803-009-0733-4.
Goots, E. E., & Liemohn, W. P. (1977). Behavioral characteristics of three children with the broad thumb-hallux (Rubinstein–Taybi) syndrome. Biological Psychiatry, 12(3), 413–423.
Haas-Givler, B. (1994). Observations on the behavioral and personality characteristics of children with Smith-Magenis syndrome. Spectrum, PRISMS.
Happe, F., & Ronald, A. (2008). The fractionable Autism triad: A review of evidence from behavioural, genetic, cognitive and neural research. Neuropsychology Review, 18(4), 287–304. doi:10.1007/s11065-008-9076-8.
Hatton, D. D., Sideris, J., Skinner, M., Mankowski, J., Bailey, D. B., Roberts, J., et al. (2006). Autistic behavior in children with fragile X syndrome: prevalence, stability, and the impact of FMRP. American Journal of Medical Genetics Part A, 140(17), 1804–1813. doi:10.1002/ajmg.a.31286.
Hennekam, R. C. (2006). Rubinstein–Taybi syndrome. European Journal of Human Genetics, 14(9), 981–985. doi:10.1038/sj.ejhg.5201594.
Hepburn, S. L., & MacLean, W. E. (2009). Maladaptive and repetitive behaviors in children with Down syndrome and autism spectrum disorders: Implications for screening. Journal of Mental Health Research in Intellectual Disabilities, 2(2), 67–88. doi:10.1080/19315860802627627.
Hermelin, B., & O’connor, N. (1963). The response and self-generated behaviour of severely disturbed children and severely subnormal controls. British Journal of Social and Clinical Psychology, 2(1), 37–43. doi:10.1111/j.2044-8260.1963.tb00373.x.
Kendall, M. G., & Stuart, A. (1958). The advanced theory of statistics. New York: Hafner.
Kushlick, A., Blunden, R., & Cox, G. (1973). A method for rating behaviour characteristics for use in large scale studies of mental handicap. Psychological Medicine, 3(4), 466–478. doi:10.1017/S0033291700054271.
Lacombe, D., Saura, R., Taine, L., & Battin, J. (1992). Confirmation of assigment of a locus for Rubinstein–Taybi syndrome gene to 16p13. 3. American Journal of Medical Genetics, 44(1), 126–128. doi:10.1002/ajmg.1320440134.
Lawrence, N. S., Wooderson, S., Mataix-Cols, D., David, R., Speckens, A., & Phillips, M. L. (2006). Decision making and set shifting impairments are associated with distinct symptom dimensions in obsessive–compulsive disorder. Neuropsychology, 20(4), 409. doi:10.1037/0894-4105.20.4.409.
Lopez, B. R., Lincoln, A. J., Ozonoff, S., & Lai, Z. (2005). Examining the relationship between executive functions and restricted, repetitive symptoms of autistic disorder. Journal of Autism and Developmental Disorders, 35(4), 445–460. doi:10.1007/s10803-005-5035-x.
Lord, C. M. (1995). Follow-up of two-year-olds referred for possible Autism. Journal of Child Psychology and Psychiatry, 36(8), 1365–1382. doi:10.1111/j.1469-7610.1995.tb01669.x.
Lord, C., & Pickles, A. (1996). Language level and nonverbal social-communicative behaviors in autistic and language-delayed children. Journal of the American Academy of Child and Adolescent Psychiatry, 35(11), 1542–1550. doi:10.1097/00004583-199611000-00024.
Lord, C., Rutter, M., & Couteur, A. (1994). Autism diagnostic interview-revised: A revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders. Journal of Autism and Developmental Disorders, 24(5), 659–685. doi:10.1007/BF02172145.
Lysaker, P. H., Whitney, K. A., & Davis, L. W. (2009). Associations of executive functon with concurrent and prospective reports of obessive-compulsive disorder symptoms in schizophrenia. Journal of Neuropsychiatry and Clinical Neuroscience, 21(1), 38–42. doi:10.1176/appi.neuropsych.21.1.38.
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(6), 405–416.
Moss, J., Kaur, G., Jephcott, L., Berg, K., Cornish, K., & Oliver, C. (2008). Prevalence of autism spectrum phenomenology in Cornelia de Lange and Cri du Chat syndromes. American Journal on Mental Retardation, 113(4), 278–291. doi:10.1352/0895-8017(2008)113[278:POASPI]2.0.CO;2.
Moss, J., Oliver, C., Arron, K., Burbidge, C., & Berg, K. (2009). The prevalence and phenomenology of repetitive behavior in genetic syndromes. Journal of Autism and Developmental Disorders, 39(4), 572–588. doi:10.1007/s10803-008-0655-6.
Moss, J., Oliver, C., Richards, C., Nelson, L., & Hall, S. S. (2013a). Delineating the profile of Autism Spectrum Disorder characteristics in Cornelia de Lange and Fragile X syndromes. American Journal on Intellectual and Developmental Disabilities, 118, 55–73. doi:10.1352/1944-7558-118.1.55.
Moss, J., Richards, C., Nelson, L., & Oliver, C. (2013b). Prevalence of autism spectrum disorder symptomatology and related behavioural characteristics in individuals with Down syndrome. Autism, 17(4), 390–404. doi:10.1177/1362361312442790.
Motulsky, H. (2010). Intuitive biostatistics. Oxford: University Press.
Murdoch, H. (1996). Stereotyped behaviors in deaf and hard of hearing children. American Annals of the Deaf, 141(5), 379–386. doi:10.1353/aad.2012.0231.
Nelson, C. (2010). Mood and sociability in Cornelia de Lange syndrome. Unpublished doctorial dissertation, University of Birmingham, Birmingham, UK.
Oliver, C., Berg, K., Burbidge, C, Arron, K., & Moss, J. (2011). Delineation of behavioural phenotypes in genetic syndromes. Comparison of autism spectrum disorder, affect and hyperactivity. Journal of Autism and Developmental Disorder, 41(8), 1019–1032. doi:10.1007/s10803-010-1125-5.
Palmer, J., & Jenkins, J. (1982). Reliability of the Wessex SPI/SSL behaviour rating schedule. British Journal of Mental Subnormality, 28(55), 88–96.
Powis, L. (2014). Rubinstein-Taybi syndrome: From behaviour to cognition. Unpublished doctoral thesis, University of Birmingham, UK.
Richler, J., Bishop, S. L., Kleinke, J. R., & Lord, C. (2007). Restricted and repetitive behaviors in young children with autism spectrum disorders. Journal of Autism and Developmental Disorders, 37(1), 73–85. doi:10.1007/s10803-006-0332-6.
Rutter, M., Bailey, A., Lord, C., & Berument, S. K. (2003). The Social Communication Questionnaire. Los Angeles: Western Psychological Services.
Smith, E. A., & Van Houten, R. (1996). A comparison of the characteristics of self-stimulatory behaviors in “normal” children and children with developmental delays. Research in Developmental Disabilities, 17(4), 253–268. doi:10.1016/0891-4222(96)00007-8.
Stevens, C. A., Carey, J. C., & Blackburn, B. L. (1990). Rubinstein–Taybi syndrome: A natural history study. American Journal of Medical Genetics, 6(Suppl.), 30–37. doi:10.1111/1540-5834.00002.
Tröster, H., Brambring, M., & Beelman, A. (1991). Prevalence and situational causes of stereotyped behaviors in blind infants and preschoolers. Journal of Abnormal Child Psychology, 19(5), 569–590. doi:10.1007/BF00925821.
Turner, M. A. (1997). Towards an executive dysfunction account of repetitive behaviour in Autism. In J. Russell (Ed.), Autism as an executive disorder (pp. 57–100). Oxford: Oxford University Press.
Turner, M. (1999). Annotation: Repetitive behaviour in autism: A review of psychological research. Journal of Child Psychology and Psychiatry, 40(6), 839–849. doi:10.1111/1469-7610.00502.
Udwin, O., & Dennis, J. (1995). Psychological and behavioural phenotypes in genetically determined syndromes: A review of research findings. In G. O’Brien & W. Yule (Eds.), Behavioral phenotypes (pp. 90–208). London: Mac Keith Press.
Watt, N., Wetherby, A. M., Barber, A., & Morgan, L. (2008). Repetitive and stereotyped behaviors in children with Autism Spectrum Disorders in the second year of life. Journal of Autism and Developmental Disorders, 38(8), 1518–1533. doi:10.1007/s10803-007-0532-8.
Weeber, E. J., & Sweatt, J. D. (2002). Molecular neurobiology of human cognition. Neuron, 33(6), 845–848. doi:10.1016/S0896-6273(02)00634-7.
Wilde, L., Silva, D., & Oliver, C. (2013). The nature of social preference and interactions in Smith-Magenis syndrome. Research in Developmental Disabilities, 34(12), 4355–4365. doi:10.1016/j.ridd.2013.09.014.
Wood, M. A., Kaplan, M. P., Park, A., Blanchard, E. J., Oliveira, A. N., Lombardi, T. L., et al. (2005). Transgenic mice expressing a truncated form of CREB-binding protein (CBP) exhibit deficits in hippocampal synaptic plasticity and memory storage. Learning and Memory, 12(2), 111–119. doi:10.1101/lm.86605.
Woodcock, K., Oliver, C., & Humphreys, G. (2009a). Associations between repetitive questioning, resistance to change, temper outbursts and anxiety in Prader–Willi and Fragile-X syndromes. Journal of Intellectual Disability Research, 53(3), 265–278. doi:10.1111/j.1365-2788.2008.01122.x.
Woodcock, K. A., Oliver, C., & Humphreys, G. W. (2009b). Task switching deficits and repetitive behaviour in genetic neurodevelopmental disorders: Data from children with Prader–Willi syndrome chromosome 15 q11-q13 deletion and boys with Fragile-X syndrome. Cognitive Neuropsychology, 26(2), 172–194. doi:10.1080/02643290802685921.
Woodcock, K. A., Oliver, C., & Humphreys, G. W. (2009c). A specific pathway can be identified between genetic characteristics and behaviour profiles in Prader–Willi syndrome via cognitive, environmental and physiological mechanisms. Journal of Intellectual Disability Research, 53(6), 493–500. doi:10.1111/j.1365-2788.2009.01167.x.
World Health Organisation. (1993). The ICD-10 classification of mental and behavioural disorders: Diagnostic criteria for research. Geneva: WHO.
Yerys, B. E., Wallace, G. L., Harrison, B., Celano, M. J., Giedd, J. N., & Kenworthy, L. E. (2009). Set-shifting in children with autism spectrum disorders reversal shifting deficits on the Intradimensional/Extradimensional Shift Test correlate with repetitive behaviors. Autism, 13(5), 523–538. doi:10.1177/1362361309335716.
Acknowledgments
We are grateful to our funding body, Cerebra, and to the Rubinstein Taybi Syndrome Support Group, Fragile X Society, Down Syndrome Association, and National Autistic Society. We are grateful to Gemma Warren who assisted with data collection and analysis.
Conflict of interest
The authors have no financial or other interests related to the research in this manuscript.
Author information
Authors and Affiliations
Corresponding author
Electronic supplementary material
Below is the link to the electronic supplementary material.
Rights and permissions
About this article
Cite this article
Waite, J., Moss, J., Beck, S.R. et al. Repetitive Behavior in Rubinstein–Taybi Syndrome: Parallels with Autism Spectrum Phenomenology. J Autism Dev Disord 45, 1238–1253 (2015). https://doi.org/10.1007/s10803-014-2283-7
Published:
Issue Date:
DOI: https://doi.org/10.1007/s10803-014-2283-7