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Angelman Syndrome

Angelman Syndrome. By Heather Standish. Description. Genetic condition caused by a defect in the mother’s chromosomes Characterized by mental retardation, happy demeanor, speech impairment and balance difficulties Happens in 1 out of every 15,000 to 20,000 births First discovered by Harry

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Angelman Syndrome

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  1. Angelman Syndrome By Heather Standish

  2. Description • Genetic condition caused by a defect in the mother’s chromosomes • Characterized by mental retardation, happy demeanor, speech impairment and balance difficulties • Happens in 1 out of every 15,000 to 20,000 births • First discovered by Harry Angelman in 1965

  3. Causes • Genetic abnormality in the mother’s 15th chromosome • Specifically caused by a mutation in the UBE3A gene or missing piece in chromosome 15 • UBE3A gene responsible for encoding an enzyme • 70% are caused by a missing piece • 11% by mutation • 3% by an imprinting defect • 1% by chromosome translocation or inversion • 8% have an unknown cause

  4. Detection Physical Symptoms: • Delayed physical skills and development • Abnormal sleep/wake patterns • Gaitaxia, or bad balance • Speech impairment • Protruding tongue • Strabismus, or crossed eyes • *Seizures in 80% by age 3*

  5. Detection (cont’d) Less obvious symptoms: • Difficulty feeding • Muscular hypotonia • 50% have microcephaly by age 1 • Happy or excited frequently for no apparent reason • Short attention span • Constipation • Scoliosis/tightening of tendons • Severe heartburn, vomiting, poor weight gain • Lighter skin

  6. Testing and Diagnosis • Diagnosed by physical examination, and both medical and developmental history Tests: • DNA methylation studies-detects 78% of cases • Fluorescence in situ hybridization-checks for abnormalities

  7. Treatment • *No specific treatment* • Drug therapy sleep and hyperactivity • Medication and diet change seizures • Physical/Occupational therapy • Target educational training communication

  8. Prevention • No known prevention • Genetic counseling may help • Easy to miss and requires specific testing • Extended family of a person with AS may have an increased risk of getting the condition

  9. More Info • http://www.angelman.org/ • http://ghr.nlm.nih.gov/condition=angelmansyndrome • http://www.angelmansyndrome.org/home.html • http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Angelman%20Syndrome • http://www.sciencedaily.com/releases/2009/05/090510142547.htm

  10. Sources • "Angelman syndrome." Jennifer Ann Roggenbuck, MS, CGC. The Gale Encyclopedia of Genetic Disorders. Ed. Brigham Narins. 2nd ed. Detroit: Thomson Gale, 2005. 2 vols. • Ainsworth, M.D.,FAPA, Patricia and Pamela Baker, Ph.D., FAAMR. Understanding Mental Retardation. Jackson: University Press of Mississippi, 2004. • http://www.ninds.nih.gov/disorders/angelman/angelman.htm • http://www.ncbi.nlm.nih.gov/pubmed/8471216 • MRDD.pdf

  11. Images • http://www.chatteringwall.com/wall_arts?page=19 • http://www.specialchild.com/archives/dz-001.html • http://www.armyofangels.org/ • http://www.babiestoday.com/articles/special-needs/angelman-syndrome-652/ • http://www.clpmag.com/issues/articles/2003-08_02.asp • http://members.westnet.com.au/agaltona/main1.html

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