Bibliographie

1. S. SENN, M. GERBAUX, Bernard DAN, M. KLEES, F. CHRISTIAENS and M. SZYPER, Speech in Angelman syndrome ;
2. L. M. G. CURFS and J. P. FRYNS, Speaking without words : Angelman's syndrome.

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 communication development in 11 children with Angelman's syndrome is described. The clinical observation that these children appear to have a greater ability with receptive rather than expressive language is investigated and these skills assessed using published communication schedules. In addition the understanding and the use of nonverbal communication such as natural gesture was studied. The data collected highlight the fact that these children have developed very few words and have difficulty in using gestural or sign systems. This has implications for speech and language therapists and the children's remedial programmes. Possible future longitudinal studies are suggested.

Persons with Angelman syndrome (AS) have mental retardation, epilepsy, and a characteristic "puppet-like" gait. Behaviorally, they are distinctive because they have no speech and have excessive laughter. A speech and communication evaluation of 7 persons with AS was performed to provide improved understanding of the speech deficit. Assessments included prelanguage and language development, oral motor abilities, and cognitive and social interaction skills. Results indicate that the typical lack of speech may not be due to mental retardation alone. Oral motor dyspraxia, and deficits in social interaction and attention were characteristic of AS and contributed to the lack of speech.

Angelman syndrome (AS) is a genetic disorder associated with a deletion on chromosome 15. Behavior problems among children with AS include sleep difficulties. Data are presented on the successful treatment of a sleep-wake schedule disorder (SWSD) in a 9-year-old boy with AS. The treatment program included behavioral and pharmacological components. During baseline, the child slept a mean of 1.9 hours per night and 1.3 hours during the day; night sleep was increased to a mean of 8.3 hours and day sleep was reduced to a mean of .08 hours after introduction of the full-treatment program. Medication was discontinued subsequently, and the child slept a mean of 7.8 hours during the night and .07 hours during the day. At 45-day follow-up, night sleep was maintained at 7.1 hours and day sleep remained stable at .29 hours. This is the first known report of an effective treatment of a SWSD in a child with AS.