ANGELMAN SYNDROME

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       Angelman syndrome is a complex genetic disorder that affect the nervous system. Characteristic features of this condition include developmental delay or mental retardation, severe speech impairment, seizures, small head size ( microcephaly ), and problems with movement can be noted by 6 until to 12 months of age, and other common signs and symptoms usually become apparent in early childhood people with angelman syndrome typically have a happy, excitable demeanor with frequent smiling and laughter, a short attention span, and hand flapping movements. Some affected individuals also have unusually fair skin in light colored hair.

Angelman syndrome is related to chromosome 15. Mutation in the UBE3A gene cause Angelman syndrome. The OCA2 gene is associated with this syndrome. People normally inherit one copy of the UBE3A gene from each parent. But copies of this gene are active in many of the body’s tissues. In the brain, however, only the copy inherited from a person’s mother is active. This parent-specific gene activation is called genomic imprinting. If the maternal copy of the UBE3A gene is lost because of a chromosomal  change or gene mutation, a person will have no active copies of the gene in the brain.

            Young adult with Angelman Syndrome are usually socially adept and respond to most personal cues and interactions. Because of their interest people, they establish rewarding  friendship and communicate a broad repertoire of feelings and sentiments, enriching the relationship to families and friends. There is a wide range in the developmental outcome that not all individuals with AS attain the above noted skills. A few will be more impaired in terms of their mental retardation and lack of attention.

            Fortunately, most children with AS do not have the severe problems, but even for the less impaired child, inattentiveness and hyperactivity during early childhood often give the impression that profound functional impairment is only outcome possible. 

             The severe developmental delay in AS mandates that a full range of early training and enrichment programs be made available. Unstable or  non-ambulatory children may also benefit from physical therapy. I think that occupational therapy may help improve fine motor and oral-motor control. Special adaptive chairs or positioners may be required at various times, especially for hypotonic and extremely ataxic children. Speech and communication therapy is essential and should focus on non verbal methods of communication.