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Gepubliceerd in: Journal of Autism and Developmental Disorders 5/2007

01-05-2007 | Original Paper

Parent Report of Stereotyped Behaviors, Social Interaction, and Developmental Disturbances in Individuals with Angelman Syndrome

Auteur: Nicolay Chertkoff Walz

Gepubliceerd in: Journal of Autism and Developmental Disorders | Uitgave 5/2007

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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.
Literatuur
go back to reference Clarke, D. J., & Marston, G. (2000). Problem behaviors associated with 15q-Angelman syndrome. American Journal on Mental Retardation, 105, 25–31.PubMedCrossRef Clarke, D. J., & Marston, G. (2000). Problem behaviors associated with 15q-Angelman syndrome. American Journal on Mental Retardation, 105, 25–31.PubMedCrossRef
go back to reference 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.PubMedCrossRef 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.PubMedCrossRef
go back to reference Cook, E. H. (1998). Genetics of autism. Mental Retardation and Developmental Disabilities Research Reviews, 4, 113–120.CrossRef Cook, E. H. (1998). Genetics of autism. Mental Retardation and Developmental Disabilities Research Reviews, 4, 113–120.CrossRef
go back to reference 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.PubMedCrossRef 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.PubMedCrossRef
go back to reference 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.PubMedCrossRef 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.PubMedCrossRef
go back to reference Gilliam, J. E. (1995). Gilliam Autism Rating Scale. Austin: Pro-Ed. Gilliam, J. E. (1995). Gilliam Autism Rating Scale. Austin: Pro-Ed.
go back to reference 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.PubMedCrossRef 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.PubMedCrossRef
go back to reference 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.PubMedCrossRef 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.PubMedCrossRef
go back to reference 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.PubMedCrossRef 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.PubMedCrossRef
go back to reference 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.PubMedCrossRef 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.PubMedCrossRef
go back to reference 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.PubMedCrossRef 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.PubMedCrossRef
go back to reference 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.CrossRef 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.CrossRef
go back to reference 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.CrossRef 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.CrossRef
go back to reference 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.PubMedCrossRef 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.PubMedCrossRef
go back to reference 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.PubMedCrossRef 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.PubMedCrossRef
go back to reference Steffenburg, S., Gillberg, C. L., Steffenburg, U., & Kyllerman, M. (1996). Autism in Angelman syndrome: A population-based study. Pediatric Neurology, 14, 131–136.PubMedCrossRef Steffenburg, S., Gillberg, C. L., Steffenburg, U., & Kyllerman, M. (1996). Autism in Angelman syndrome: A population-based study. Pediatric Neurology, 14, 131–136.PubMedCrossRef
go back to reference Summers, J. A., & Feldman, M. A. (1999). Distinctive pattern of behavioral functioning in Angelman syndrome. American Journal of Mental Retardation, 104, 376–384.PubMedCrossRef Summers, J. A., & Feldman, M. A. (1999). Distinctive pattern of behavioral functioning in Angelman syndrome. American Journal of Mental Retardation, 104, 376–384.PubMedCrossRef
go back to reference 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.PubMedCrossRef 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.PubMedCrossRef
go back to reference Trillingsgaard, A., & Ostergaard, J. R. (2004). Autism in Angelman syndrome: An exploration of comorbidity. Autism, 8, 163–174.PubMedCrossRef Trillingsgaard, A., & Ostergaard, J. R. (2004). Autism in Angelman syndrome: An exploration of comorbidity. Autism, 8, 163–174.PubMedCrossRef
go back to reference 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.PubMedCrossRef 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.PubMedCrossRef
go back to reference 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.PubMedCrossRef 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.PubMedCrossRef
go back to reference 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.PubMed 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.PubMed
go back to reference 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.PubMedCrossRef 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.PubMedCrossRef
go back to reference 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.CrossRef 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.CrossRef
go back to reference Williams, C. A. (2005). Neurological aspects of the Angelman syndrome. Brain and Development, 27, 88–94.PubMedCrossRef Williams, C. A. (2005). Neurological aspects of the Angelman syndrome. Brain and Development, 27, 88–94.PubMedCrossRef
go back to reference 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.PubMed 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.PubMed
go back to reference 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. 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.
Metagegevens
Titel
Parent Report of Stereotyped Behaviors, Social Interaction, and Developmental Disturbances in Individuals with Angelman Syndrome
Auteur
Nicolay Chertkoff Walz
Publicatiedatum
01-05-2007
Gepubliceerd in
Journal of Autism and Developmental Disorders / Uitgave 5/2007
Print ISSN: 0162-3257
Elektronisch ISSN: 1573-3432
DOI
https://doi.org/10.1007/s10803-006-0233-8

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