1 / 11

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

ulfah
Download Presentation

Angelman Syndrome

An Image/Link below is provided (as is) to download presentation Download Policy: Content on the Website is provided to you AS IS for your information and personal use and may not be sold / licensed / shared on other websites without getting consent from its author. Content is provided to you AS IS for your information and personal use only. Download presentation by click this link. While downloading, if for some reason you are not able to download a presentation, the publisher may have deleted the file from their server. During download, if you can't get a presentation, the file might be deleted by the publisher.

E N D

Presentation Transcript


  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

More Related