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We investigated autism spectrum disorder (ASD) symptomatology, hyperactivity and affect in seven genetic syndromes; Angelman (AS; n = 104), Cri du Chat (CdCS; 58), Cornelia de Lange (CdLS; 101), Fragile X (FXS; 191), Prader-Willi (PWS; 189), Smith-Magenis (SMS; 42) and Lowe (LS; 56) syndromes (age range 4–51). ASD symptomatology was heightened in CdLS and FXS. High levels of impulsivity were seen in SMS, AS, CdCS, FXS and adults with CdLS. Negative affect was prominent in adults with CdLS, while positive affect was prominent in adults with AS and FXS. Heightened levels of overactivity and impulsivity were identified in FXS, AS and SMS while low levels were identified in PWS. These findings confirm and extend previously reported behavioral phenotypes.
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Arron, K., Oliver, C., Berg, K., Moss, J., & Burbidge, C. (in press). Prevalence and phenomenology of self-injurious and aggressive behaviour in genetic syndromes. Journal of Intellectual Disability Research.
Barkley, R. A. (1997). Behavioral inhibition. Sustained attention and executive functions: Constructing a unifying theory of ADHD. Psychological Bulletin, 121, 65–94.
Burbidge, C., & Oliver, C. (2008). The activity questionnaire. University of Birmingham: Manual for administration and score interpretation.
Burbidge, C., Oliver, C., Moss, J., Arron, K., Berg, K., Hill, L., Trusler, K., Furniss, F., & Woodcock, K. A. (in press). The association between repetitive behaviours, impulsivity and hyperactivity in people with intellectual disability. Journal of Intellectual Disability Research.
Dykens, E. M. (1995). Measuring behavioral phenotypes: Provocations from the ‘new genetics’. American Journal on Mental Retardation, 99, 522–532. PubMed
Dykens, E. M., & Clarke, D. J. (1997). Correlates of maladaptive behavior in individuals with 5p-(cri du chat) syndrome. Developmental Medicine and Child Neurology, 39, 752–756. PubMed
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., & 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.
Hammond, P., Hutton, T. J., Allanson, J. E., Campbell, L. E., Hennekam, R. C., Holden, S., et al. (2004). 3D analysis of facial morphology. American Journal of Medical Genetics, 126, 339–348. CrossRef
Horsler, K., & Oliver, C. (2006a). Environmental influences on the behavioral phenotype of Angelman syndrome. American Journal on Mental Retardation, 11, 311–321. CrossRef
Jarrold, C., Baddeley, A. D., & Phillips, C. E. (2002). Verbal short-term memory in Down syndrome: A problem of memory, audition, or speech? Journal of Speech Language and Hearing Research, 45, 531–544. CrossRef
Kline, A. D., Krantz, I. D., Sommer, A., Kleiwer, M., Jackson, L. D., FitzPatrick, D. R., et al. (2007). Cornelia de Lange syndrome: Clinical review, diagnostic and scoring systems, and anticipatory guidance. American Journal of Medical Genetics (Part A), 143A, 1287–1296. CrossRef
Milner, K. M., Craig, E. E., Thompson, R. J., Veltman, M. W. M., Thomas, N. S., Roberts, S., Bellamy, M., Curran, S., Sporikou, C. M. J. & Bolton, P. (2005). Prader-Willi syndrome: intellectual abilities and behavioural features by genetic subtype. Journal of Child Psychology and Psychiatry, 46, 1089–1096.
Moore, D. G., Oates, J. M., Hobson, R. P., & Goodwin, J. (2002). Cognitive and social factors in the development of infants with Down syndrome. Down Syndrome Research and Practice, 8, 43–52. CrossRef
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, 572–588.
O’Brien, G., & Yule, W. (1995). Behavioural phenotypes. MacKeith Press: Cambridge.
Oliver, C., Arron, K., Hall, S., & Sloneem, J. (2008). The behavioural phenotype of Cornelia de Lange syndrome. British Journal of Psychiatry, 193, 466–470.
Oliver, C., & Hagerman, R. (2007). Trends and challenges in behavioural phenotype research. Journal of Intellectual Disability Research, 51, 649–652.
Palmer, J., & Jenkins, J. (1982). The ‘Wessex’ behaviour rating system for mentally handicapped people: Reliability study. British Journal of Mental Subnormality, 28, 88–96.
Ross, E., Arron, K. & Oliver, C. (2008). The mood interest and pleasure questionnaire: manual for administration and scoring. University of Birmingham.
Taylor, L., & Oliver, C. (2008). The behavioural phenotype of Smith-Magenis syndrome: Evidence for a gene-environment interaction. Journal of Intellectual Disability Research, 52, 830-841.
Thomas, M. S. C., & Karmiloff-Smith, A. (2005). Can developmental disorders reveal the component parts of the human language faculty? Language Learning and Development, 1, 65–92. CrossRef
Woodcock, K., Oliver, C., & Humphreys, G. W. (2009a). Hypothesis: A specific pathway can be identified between genetic and behaviour profiles in Prader-Willi syndrome via cognitive, environmental and physiological mechanisms. Journal of Intellectual Disability Research, 53, 493–500.
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, 172–194. PubMedCrossRef
- Delineation of Behavioral Phenotypes in Genetic Syndromes: Characteristics of Autism Spectrum Disorder, Affect and Hyperactivity
- Springer US