Abstract
Research examining autistic symptoms in Angelman syndrome (AS) is limited. The goal of this study was to further characterize the nature of stereotyped behaviors, social interaction deficits, and developmental disturbances in individuals with AS. Parents of 248 individuals between the ages of 3 and 22 completed a survey of autistic symptomatology by mail, the Gilliam Autism Rating Scale. Results confirmed a high degree of developmental delay and limited expressive language skills. In terms of stereotyped behaviors and social interaction, areas of convergence and divergence between AS and behaviors typically associated with autism spectrum disorders are described. The relationship between child characteristics (age, gender, seizure disorder, genetic subtype) and autistic symptomatology are discussed.
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Clarke, D. J., & Marston, G. (2000). Problem behaviors associated with 15q-Angelman syndrome. American Journal on Mental Retardation, 105, 25–31.
Cohen, D., Pichard, N., Tordjman, S., Bauman, C., Burglen, L., Excoffier, E., et al. (2005). Specific genetic disorders and autism: Clinical contribution toward their identification. Journal of Autism and Developmental Disorders, 35, 103–116.
Cook, E. H. (1998). Genetics of autism. Mental Retardation and Developmental Disabilities Research Reviews, 4, 113–120.
Dykens, E. M., Sutcliffe, J. S., & Levitt, P. (2004). Autism and 15q11–q13 disorders: Behavioral, genetic, and pathophysiological issues. Mental Retardation and Developmental Disabilities Research Reviews, 10, 284–291.
Filipek, P. A., Accardo, P. J., Baranek, G. T., Cook, E. H., Dawson, G., Gordon, B., et al. (1999). The screening and diagnosis of autistic spectrum disorders. Journal of Autism and Developmental Disorders, 29, 439–483.
Gilliam, J. E. (1995). Gilliam Autism Rating Scale. Austin: Pro-Ed.
Hitchins, M. P., Rickard, S., Dhalla, F., deVries, B. B. A., Winter, R., Pembrey, M. E., et al. (2004). Investigation of UBE3A and MECP2 in Angelman syndrome and patients with features of AS. American Journal of Medical Genetics, 125, 167–172.
Lord, C., Risi, S., Lambrecht, L., Cook, E. H., Leventhal, B. L., DiLavore, P. A., et al. (2000). The Autism Diagnostic Observation Schedule-Generic: A standard measure of social and communication deficits associated with the spectrum of autism. Journal of Autism and Developmental Disorders, 30, 205–223.
Lossie, A. C., Whitney, M. M., Amidon, D., Dong, H. J., Chen, P., Theriaque, D., et al. (2001). Distinct phenotypes distinguish the molecular classes of Angelman syndrome. Journal of Medical Genetics, 38, 834–845.
Nurmi, E. L., Bradford, Y., Chen, Y., Hall, J., Arnone, B., Gardiner, M. B., et al. (2001). Linkage disequilibrium at the Angelman syndrome gene UBE3A in autism families. Genomics, 77, 105–113.
Penner, K. A., Johnston, J., Faircloth, B. H., Irish, P., & Williams, C. A. (1993). Communication, cognition, and social interaction in the Angelman syndrome. American Journal of Medical Genetics, 46, 34–39.
Peters, S. U., Beaudet, A. L., Madduri, N., & Bacino, C. A. (2004a). Autism in Angelman syndrome: Implications for autism research. Clinical Genetics, 66, 530–536.
Peters, S. U., Goddard-Finegold, J., Beaudet, A. L., Madduri, N., Turcich, M., & Bacino, C. A. (2004b). Cognitive and adaptive behavior profiles of children with Angelman syndrome. American Journal of Medical Genetics, 128, 110–113.
Schroer, R. J., Phelan, M. C., Michaelis, R. C., Crawford, E. C., Skinner, S. A., Cuccaro, M., et al. (1998). Autism and maternally derived aberrations of chromosome 15q. American Journal of Medical Genetics, 76, 327–336.
South, M., Williams, B. J., McMahon, W. M., Owley, R., Filipek, P. A., Shernoff, E., et al. (2002). Utility of the Gilliam Autism Rating Scale in research and clinical populations. Journal of Autism and Developmental Disorders, 32, 593–599.
Steffenburg, S., Gillberg, C. L., Steffenburg, U., & Kyllerman, M. (1996). Autism in Angelman syndrome: A population-based study. Pediatric Neurology, 14, 131–136.
Summers, J. A., & Feldman, M. A. (1999). Distinctive pattern of behavioral functioning in Angelman syndrome. American Journal of Mental Retardation, 104, 376–384.
Thompson, R. J., & Bolton, P. F. (2003). Case report: Angelman syndrome in an individual with a small SMC(15) and paternal uniparental disomy: A case report with reference to the assessment of cognitive functioning and autistic symptomatology. Journal of Autism and Developmental Disorders, 33, 171–176.
Trillingsgaard, A., & Ostergaard, J. R. (2004). Autism in Angelman syndrome: An exploration of comorbidity. Autism, 8, 163–174.
Veenstra-VanderWeele, J., Gonen, D., Leventhal, B. L., & Cook, E. H. (1999). Mutation screening of the UBE3A/E6-AP gene in autistic disorder. Molecular Psychiatry, 4, 64–67.
Volkmar, F. R., Lord, C., Bailey, A., Schultz, R. T., & Klin, A. (2004). Autism and pervasive developmental disorders. Journal of Child Psychology and Psychiatry, 45, 135–170.
Walz, N. C., & Baranek, G. T. (2006). Sensory processing patterns in individuals with Angelman syndrome. The American Journal of Occupational Therapy, 60(4), 472–479.
Walz, N. C., Beebe, D. W., & Byars, K. (2005). Sleep in individuals with Angelman syndrome: Parent perceptions of patterns and problems. American Journal on Mental Retardation, 110, 243–252.
Walz, N. C., & Benson, B. A. (2002). Behavioral phenotypes in children with Down syndrome, Prader-Willi syndrome, Angelman syndrome, or nonspecific mental retardation. Journal of Developmental and Physical Disabilities, 14, 307–321.
Williams, C. A. (2005). Neurological aspects of the Angelman syndrome. Brain and Development, 27, 88–94.
Williams, C. A., Beaudet, A. L., Clayton-Smith, J., Knoll, J. H., Kyllerman, M., Laan, L. A., Magenis, R. E., Moncia, A., Schinzel, A. A., Summers, J. A., & Wagstaff, J. (2006). Angelman syndrome 2005: Updated consensus for diagnostic criteria. American Journal of Medical Genetics, 140(5), 413–418.
Williams, C. A., Lossie, A., Driscoll, D., & the R.C. Philips Unit. (2001). Angelman syndrome: Mimicking conditions and phenotypes. American Journal of Medical Genetics, 101, 59–64.
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The research presented here was funded by a grant from the Angelman Syndrome Foundation.
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Walz, N.C. Parent Report of Stereotyped Behaviors, Social Interaction, and Developmental Disturbances in Individuals with Angelman Syndrome. J Autism Dev Disord 37, 940–947 (2007). https://doi.org/10.1007/s10803-006-0233-8
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DOI: https://doi.org/10.1007/s10803-006-0233-8