Encyclopedia of Clinical Neuropsychology

2018 Edition
| Editors: Jeffrey S. Kreutzer, John DeLuca, Bruce Caplan

Angelman Syndrome

  • Kristen SmithEmail author
  • Bonita P. “Bonnie” Klein-Tasman
Reference work entry
DOI: https://doi.org/10.1007/978-3-319-57111-9_1510

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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References and Readings

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Copyright information

© Springer International Publishing AG, part of Springer Nature 2018

Authors and Affiliations

  • Kristen Smith
    • 1
    Email author
  • Bonita P. “Bonnie” Klein-Tasman
    • 2
  1. 1.Department of Psychology and the Neuroscience InstituteGeorgia State UniversityAtlantaUSA
  2. 2.Department of PsychologyUniversity of Wisconsin-MilwaukeeMilwaukeeUSA