Behaviour problems in Angelman syndrome

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.

The Prevalence and Phenomenology of Repetitive Behavior in Genetic Syndromes

“…(Summers, Allison, Lynch & Sandler, 1995). However, the presence of hand stereotypies was not found to be distinctive within this group.…”

The behavioural phenotype of Angelman syndrome

“…Whilst evidence for a behavioural phenotype for people with Angelman syndrome has begun to emerge (Summers, Allison, Lynch & Sandler, 1995), there are still very few studies that are methodologically robust and the majority of reports comprise of case studies. A search of MEDLINE (1966 to present day) and psycINFO (1887 to present day) was carried out using the keywords 'Angelman syndrome','Happy Puppet', and '15q deletion'.…”

Clinical and genetic aspects of Angelman syndrome

“…Conversational speech does not develop even in high functioning individuals. 37 Effective fluent use of sign language does not occur. 38 Cognitive abilities are profoundly affected.…”