Definition
Angelman syndrome is a neurodevelopmental disorder caused by one of several genetic mechanisms involving maternal chromosome 15, specifically the region 15q11.2-13 (Dagli et al. 2015). Common features include microcephaly, seizure disorder, impaired motor skills, and developmental delays. Absent or extremely limited expressive language skills are also commonly observed. Behaviorally, individuals with Angelman syndrome are known for a happy temperament, frequent laughter, inattention/hyperactivity, and stereotyped behaviors; these features have been identified as the most consistent features within this population (Clayton-Smith and Laan 2003).
Categorization
Deletion or mutation of genetic material on chromosome 15q11-13 can result in one of two distinct neurodevelopmental disorders, depending upon whether the genetic material is from the maternal or paternal chromosome. This parent of origin effect is known as “imprinting.” Note that the 15q11-13 region is differently...
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Aghakhanyan, G., Bonanni, P., Randazzo, G., Nappi, S., Tessarotto, F., De Martin, L., et al. (2016). From cortical and subcortical Grey matter abnormalities to neurobehavioral phenotype of Angelman syndrome: A voxel-based Morphometry study. PloS One, 11(9), e0162817. https://doi.org/10.1371/journal.pone.0162817.
Allen, K. D., Kuhn, B. R., DeHaai, K. A., & Wallace, D. P. (2013). Evaluation of a behavioral treatment package to reduce sleep problems in children with Angelman syndrome. Research in Developmental Disabilities, 34(1), 676–686.
Angelman, H. (1965). ‘Puppet’ children: A report on three cases. Developmental Medicine & Child Neurology, 7, 681–688.
Braam, W., Didden, R., Smits, M. G., & Curfs, L. M. (2008). Melatonin for chronic insomnia in Angelman syndrome: A randomized placebo-controlled trial. Journal of Child Neurology, 23, 649–654.
Buiting, K., Clayton-Smith, J., Driscol, D. J., Gillessen-Kaesbach, G., Kanber, D., Schwinger, E., et al. (2015). Clinical utility card for: Angelman syndrome. European journal of human genetics, 23, online.
Cassidy, S. B., Dykens, E., & Williams, C. A. (2000). Prader-Willi and Angelman syndromes: Sister imprinted disorders. American Journal of Medical Genetics, 97, 136–146.
Clarke, D. J., & Marston, G. (2000). Problem behaviors associated with 15q- Angelman syndrome. American Journal on Mental Retardation, 105, 25–31.
Clayton-Smith, J. (2001). Angelman syndrome: Evolution of the phenotype in adolescents and adults. Developmental Medicine & Child Neurology, 43, 476–480.
Clayton-Smith, J., & Laan, L. (2003). Angelman syndrome: A review of the clinical and genetic aspects. Journal of Medical Genetics, 40, 87–95.
Dagli, A. I., Mueller, J., & Williams, C. A. (2015). Angelman Syndrome. In: Pagon R. A., Adam, M. P., Ardinger, H. H., Wallace, S. E., Amemiya, A., Bean, L. J. H., . . . & Stephens, K. (Eds.). GeneReviews® [Internet]. Seattle: University of Washington, Seattle; 1993–2015. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1144/
Fichtner, C. S., & Tiger, J. H. (2015). Teaching discriminated social approaches to individuals with Angelman syndrome. Journal of Applied Behavior Analysis, 48, 734–748.
Gentile, J. K., Tan, W.-H., Horowitz, L. T., Bacino, C. A., Skinner, S. A., Barbieri-Welge, R., et al. (2010). A neurodevelopmental survey of Angelman syndrome with genotype-phenotype correlations. Journal of Developmental and Behavioral Pediatrics, 31(7), 592–601.
Harting, I., Seitz, A., Rating, D., Sartor, K., Zschocke, J., Janssen, B., et al. (2009). Abnormal myelination in Angelman syndrome. European Journal of Pediatric Neurology, 13(3), 271–275.
Heald, M., Allen, D., Villa, D., & Oliver, C. (2013). Discrimination training reduces high rate social approach behaviors in Angelman syndrome: Proof of principle. Research in Developmental Disabilities, 34, 1794–1803.
Levitas, A., Dykens, E., Finucane, B., & Kates, W. (2007). Behavioral phenotype of genetic disorders. In R. Fletcher, E. Loschen, C. Stavrakaki, & M. First (Eds.), Diagnostic manual - intellectual disability: A textbook of diagnoses of mental disorders in persons with intellectual disability. Kingston: NADD Press.
Miodrag, N., & Peters, S. (2015). Parent stress across molecular subtypes of children with Angelman syndrome. Journal of Intellectual Disability Research, 59, 816–826.
Moss, J., & Howlin, P. (2009). Autism spectrum disorders in genetic syndromes: Implications for diagnosis, intervention and understanding the wider autism spectrum disorder population. Journal of Intellectual Disabilities Research, 53, 852–873.
Peters, S. U., Goddard-Finegold, J., Beaudet, A. L., Madduri, N., Turcich, M., & Bacino, C. A. (2004). Cognitive and adaptive behavior profiles of children with Angelman syndrome. American Journal of Medical Genetics, 128, 110–113.
Peters, S. U., Horowitz, L., Barbieri-Welge, R., Lounds Taylor, J., & Hundley, R. J. (2012). Longitudinal follow-up of autism spectrum features and sensory behaviors in Angelman syndrome by deletion class. Journal of Child Psychology and Psychiatry, 53(2), 152–159.
Peters, S. U., Kaufmann, W. E., Bacino, C. A., Angerson, A. W., Adapa, P., Chu, Z., … & Wilde, E. A., (2011). Alterations in white matter pathways in Angelman syndrome. Developmental Medicine & Child Neurology, 53, 361–367.
Summers, J. A., Allison, D. B., Lynch, P. S., & Sandler, L. (1995). Behaviour problems in Angelman syndrome. Journal of Intellectual Disability Research, 39, 97–106.
Summers, J. A., & Feldman, M. A. (1999). Distinctive pattern of behavioral functioning in Angelman syndrome. American Journal on Mental Retardation, 104, 376–384.
Thibert, R. L., Conant, K. D., Braun, E. K., Bruno, P., Said, R. R., Nespeca, M. P., & Thiele, E. A. (2009). Epilepsy in Angelman syndrome: A questionnaire-based assessment of the natural history and current treatment options. Epilepsia, 50, 2369–2376.
Williams, C. A. (2005). Neurological aspects of the Angelman syndrome. Brain & Development, 27, 88–94.
Williams, C. A. (2010). The behavioral phenotype of the Angelman syndrome. American Journal of Medical Genetics, 154C, 432–437.
Williams, C. A., Beaudet, A. L., Clayton-Smith, J., Knoll, J. H., Kyllerman, M., Laan, L. A., et al. (2006). Angelman syndrome 2005: Updated consensus for diagnostic criteria. American Journal of Medical Genetics, 140, 413–418.
Williams, C. A., Driscoll, D. J., & Dagli, A. I. (2010). Clinical and genetic aspects of Angelman syndrome. Genetics in Medicine, 12(7), 385–395.
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Smith, K., Klein-Tasman, B.P.“. (2018). Angelman Syndrome. In: Kreutzer, J.S., DeLuca, J., Caplan, B. (eds) Encyclopedia of Clinical Neuropsychology. Springer, Cham. https://doi.org/10.1007/978-3-319-57111-9_1510
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DOI: https://doi.org/10.1007/978-3-319-57111-9_1510
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