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All About: Angelman Syndrome

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All About: Angelman Syndrome

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    1. All About: Angelman Syndrome Molly Segal

    2. Angelman Syndrome Otherwise known as AS.

    3. Mode of Inheritance Angelman syndrome is a chromosomal condition. It is related to chromosome 15. It affects about 1 out of every 12,000 to 20,000 people.

    4. Pedigree

    5. Symptoms of the Disorder and Detection Developmental delay, or mental retardation. Severe speech impediment. Seizures Small head size (microcephaly) Problems with movement and balance (ataxia) Short attention span Often very happy, a lot of smiling and laughing. Usually have fair skin with light colored hair Hand flapping/clapping of the hands is common.

    7. Detection Signs are often detected in early childhood, while the developmental delay can be detected as early as 6 to 12 months.

    8. Diagnostic Testing Besides the symptoms, the tests that can be done to diagnose the disorder include: Molecular genetic testing Cytogenetic analysis DNA methylation analysis

    9. Prognosis The survival rate for AS has appeared to be a fairly normal life-span.

    10. Additional Health Problems/Treatment Anticonvulsant medications can be prescribed for the seizures that occur. Behavioral therapy and modification is often helpful. Also, educational training and enrichment programs should be available. Thoraco-lumbar jackets or surgical rod stabilization can help with severe scoliosis and curvature. orthotic bracing or surgery is often used to correct subluxed or pronated ankles or tight Achilles tendons

    11. Current Research There are studies that have been taking place over the past 5-10 years in which they are trying to establish genotype-phenotype correlations which will hopefully assist in future clinical care for AS patients.

    12. Genetic Counseling What would a genetic counselor tell parents who had the disorder or were carriers of the disorder about the chances their children would have the disorder? The parents of a proband are unaffected. Genetic testing for parents depends on the cause of AS in the proband. The mother of a child with deletions should get chromosomal analysis to determine if she has a balanced subtle chromosomal rearrangement.

    14. Credits http://www.genetests.org/query?dz=angelman http://www.noah-health.org/en/genetic/ http://ghr.nlm.nih.gov/condition=angelmansyndrome http://www.geneclinics.org/profiles/angelman/

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