Professional paper

Clinical and Rehabilitation Aspects of Angelman Syndrome

Maja Rebrović Čančarević ; Centar za odgoj i obrazovanje, Rijeka, Hrvatska

Abstract

Angelman syndrome (AS) is a neurodevelopmental disorder characterized by progressive microcephaly and epilepsy. In terms of development, this syndrome implies developmental discrepancies and difficulties in acquiring speech and language, as well as unusual behaviour (e.g., spontaneous bouts of laughter). AS is a distinct disorder with a characteristic cognitive, behavioural, and neurological phenotype. It is linked with abnormalities in chromosome 15q11-13. The incidence of AS is estimated to be between 1 in 15,000 and 1 in 20,000 children. Developmental delays are first noted around the age of 6 months. However, the unique clinical features of Angelman syndrome do not become manifest until after age of 1 year. The following characteristics are associated with Angelman syndrome: strabismus, protruding tongue, frequent drooling, sucking and swallowing disorders, wide mouth, excessive chewing, hypopigmented skin, scoliosis, and abnormal sleep-wake cycles. Diagnosis is based on genetic testing and on establishing individual clinical features of Angelman syndrome. Education and rehabilitation methods in managing Angelman syndrome are early intervention, basic perceptive stimulation, behavioral modification, physical, speech and language, and occupational therapy. Speech and language therapy should focus on nonverbal methods of communication. Angelman syndrome is not a progressive ailment, and the prognosis for adulthood is good.

Keywords

Angelman syndrome; developmental discrepancies; early intervention; nonverbal communication

Hrčak ID:

150138

URI

https://hrcak.srce.hr/150138

Publication date:

28.12.2015.

Article data in other languages: croatian

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