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Cited by 120Genetic Syndromes and ImprintingGenomic variations and chromosomal abnormalitiesBehavioral and Psychological Studies

Behaviour problems in Angelman syndrome

Summers, J. A., Allison, D. B., Lynch, P. S., Sandier, L.·1995·Journal of Intellectual Disability Research
DOI 10.1111/j.1365-2788.1995.tb00477.x
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Abstract

Angelman syndrome (AS) is a genetic disorder that is associated with a deletion on chromosome 15, and is characterized by abnormalities or impairments in neurological, motor and intellectual functioning. While behaviour problems have been reported in clients with AS, relatively little is known about their developmental course and outcome. In this study, data on the nature and prevalence of behaviour problems among clients with AS were gathered from two sources: (1) a review of published case reports; and (2) parent responses to a survey of behaviour problems in a small (n = 11) sample of children with AS. Data from both sources showed that behaviour problems were present in males and females of all ages, and included language deficits, excessive laughter, hyperactivity, short attention span, problems with eating and sleeping, aggression, noncompliance, mouthing of objects, tantrums, and repetitive and stereotyped behaviour. Identification and treatment of severe behaviour problems in clients with AS may improve their adaptive functioning.

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  • Enhanced ERBB4 signaling has been implicated in Angelman syndrome, an autism spectrum disorder marked by behavioral traits such as increased desire for social interaction, developmental delay, severe speech impairment, and a happy demeanour.

    “Enhanced ERBB4 signaling has been implicated in Angelman syndrome, an autism spectrum disorder marked by behavioral traits such as increased desire for social interaction, developmental delay, severe speech impairment, and a happy demeanour, although aggressive behavior has sometimes been reported [83–85].”

    From Self-domestication in Homo sapiens: Insights from comparative genomics (2017) · cites this paper as [85]

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Authors
Summers, J. A., Allison, D. B., Lynch, P. S., & Sandier, L.
Affiliations
  • Kennedy Krieger Institute (US)
  • St. Luke's-Roosevelt Hospital Center (US)
Corresponding author
Summers, J. A.
ORCID
Venue
Journal of Intellectual Disability Research
Publisher
Wiley
Published
1995-04
Volume
39
Issue
2
Pages
97-106
ISSN
  • 0964-2633 (ISSN-L)
  • 1365-2788
DOI
10.1111/j.1365-2788.1995.tb00477.x
OpenAlex
W1989435604
Cited by
120
References
46
Citations by year
2026: 1 · 2024: 4 · 2023: 5 · 2022: 3 · 2021: 5 · 2020: 2 · 2019: 5 · 2018: 2 · 2017: 5 · 2016: 3 · 2015: 2 · 2014: 6 · 2013: 3 · 2012: 5
FWCI
0.24
Type
journal article
Language
en
Open access
closed
Licence
onlinelibrary.wiley.com/termsAndConditions#vor (vor, 4837 d)
Locations
  • Journal of Intellectual Disability Research (publishedVersion)
  • PubMed (publishedVersion)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Syndromes and Imprinting
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
  • Social Sciences › Psychology › Developmental and Educational Psychology › Behavioral and Psychological Studies
Keywords
Angelman syndrome, behavioral problems, intellectual disability, language deficits, hyperactivity, aggression, non-compliance, stereotypy, tantrums, adaptive behavior, developmental course
MeSH terms
Adolescent, Adult, Aggression, Child, Child, Preschool, Feeding Behavior, Female, Humans, Infant, Language Disorders, Laughter, Male, Seizures, Sleep Wake Disorders, Stereotyped Behavior, Angelman Syndrome

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