Skip to main content
Top
Gepubliceerd in:

01-05-2015 | Original Paper

Repetitive Behavior in Rubinstein–Taybi Syndrome: Parallels with Autism Spectrum Phenomenology

Auteurs: Jane Waite, Joanna Moss, Sarah R. Beck, Caroline Richards, Lisa Nelson, Kate Arron, Cheryl Burbidge, Katy Berg, Chris Oliver

Gepubliceerd in: Journal of Autism and Developmental Disorders | Uitgave 5/2015

Log in om toegang te krijgen
share
DELEN

Deel dit onderdeel of sectie (kopieer de link)

  • Optie A:
    Klik op de rechtermuisknop op de link en selecteer de optie “linkadres kopiëren”
  • Optie B:
    Deel de link per e-mail

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.
Bijlagen
Alleen toegankelijk voor geautoriseerde gebruikers
Voetnoten
1
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.
 
Literatuur
go back to reference 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.CrossRef 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.CrossRef
go back to reference American Psychiatric Association. (2013). Diagnostic and statistical manual of mental disorders (5th ed.). Arlington, VA: American Psychiatric Publishing.CrossRef American Psychiatric Association. (2013). Diagnostic and statistical manual of mental disorders (5th ed.). Arlington, VA: American Psychiatric Publishing.CrossRef
go back to reference 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.CrossRefPubMed 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.CrossRefPubMed
go back to reference 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.CrossRef 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.CrossRef
go back to reference 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.CrossRefPubMed 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.CrossRefPubMed
go back to reference 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.CrossRefPubMed 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.CrossRefPubMed
go back to reference 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.CrossRefPubMed 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.CrossRefPubMed
go back to reference 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.CrossRefPubMed 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.CrossRefPubMed
go back to reference 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. 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.
go back to reference Haas-Givler, B. (1994). Observations on the behavioral and personality characteristics of children with Smith-Magenis syndrome. Spectrum, PRISMS. Haas-Givler, B. (1994). Observations on the behavioral and personality characteristics of children with Smith-Magenis syndrome. Spectrum, PRISMS.
go back to reference 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.CrossRef 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.CrossRef
go back to reference 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.CrossRef 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/​1931586080262762​7.CrossRef
go back to reference Kendall, M. G., & Stuart, A. (1958). The advanced theory of statistics. New York: Hafner. Kendall, M. G., & Stuart, A. (1958). The advanced theory of statistics. New York: Hafner.
go back to reference 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.CrossRefPubMed 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.CrossRefPubMed
go back to reference 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.CrossRefPubMed 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.CrossRefPubMed
go back to reference 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.CrossRefPubMed 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.CrossRefPubMed
go back to reference 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.CrossRef 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.CrossRef
go back to reference 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. 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.
go back to reference 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.CrossRefPubMed 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.CrossRefPubMed
go back to reference 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.CrossRefPubMed 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.CrossRefPubMed
go back to reference 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.CrossRefPubMed 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​.CrossRefPubMed
go back to reference Motulsky, H. (2010). Intuitive biostatistics. Oxford: University Press. Motulsky, H. (2010). Intuitive biostatistics. Oxford: University Press.
go back to reference Nelson, C. (2010). Mood and sociability in Cornelia de Lange syndrome. Unpublished doctorial dissertation, University of Birmingham, Birmingham, UK. Nelson, C. (2010). Mood and sociability in Cornelia de Lange syndrome. Unpublished doctorial dissertation, University of Birmingham, Birmingham, UK.
go back to reference 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. 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.
go back to reference Palmer, J., & Jenkins, J. (1982). Reliability of the Wessex SPI/SSL behaviour rating schedule. British Journal of Mental Subnormality, 28(55), 88–96. Palmer, J., & Jenkins, J. (1982). Reliability of the Wessex SPI/SSL behaviour rating schedule. British Journal of Mental Subnormality, 28(55), 88–96.
go back to reference Powis, L. (2014). Rubinstein-Taybi syndrome: From behaviour to cognition. Unpublished doctoral thesis, University of Birmingham, UK. Powis, L. (2014). Rubinstein-Taybi syndrome: From behaviour to cognition. Unpublished doctoral thesis, University of Birmingham, UK.
go back to reference 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.CrossRefPubMed 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.CrossRefPubMed
go back to reference Rutter, M., Bailey, A., Lord, C., & Berument, S. K. (2003). The Social Communication Questionnaire. Los Angeles: Western Psychological Services. Rutter, M., Bailey, A., Lord, C., & Berument, S. K. (2003). The Social Communication Questionnaire. Los Angeles: Western Psychological Services.
go back to reference 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.CrossRefPubMed 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.CrossRefPubMed
go back to reference 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. 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.
go back to reference 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.CrossRefPubMed 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.CrossRefPubMed
go back to reference 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. 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.
go back to reference 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. 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.
go back to reference 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.CrossRefPubMedCentralPubMed 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.CrossRefPubMedCentralPubMed
go back to reference 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.CrossRefPubMed 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/​0264329080268592​1.CrossRefPubMed
go back to reference 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.CrossRefPubMed 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.CrossRefPubMed
go back to reference World Health Organisation. (1993). The ICD-10 classification of mental and behavioural disorders: Diagnostic criteria for research. Geneva: WHO. World Health Organisation. (1993). The ICD-10 classification of mental and behavioural disorders: Diagnostic criteria for research. Geneva: WHO.
go back to reference 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.PubMedCentralPubMed 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​.PubMedCentralPubMed
Metagegevens
Titel
Repetitive Behavior in Rubinstein–Taybi Syndrome: Parallels with Autism Spectrum Phenomenology
Auteurs
Jane Waite
Joanna Moss
Sarah R. Beck
Caroline Richards
Lisa Nelson
Kate Arron
Cheryl Burbidge
Katy Berg
Chris Oliver
Publicatiedatum
01-05-2015
Uitgeverij
Springer US
Gepubliceerd in
Journal of Autism and Developmental Disorders / Uitgave 5/2015
Print ISSN: 0162-3257
Elektronisch ISSN: 1573-3432
DOI
https://doi.org/10.1007/s10803-014-2283-7