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Angelman Syndrome

Angelman Syndrome. A PowerPoint by: Alexandra Vidaeff. History. Dr. Harry Angelman, a pediatrician working in Warrington, England, first reported three children with the condition in 1965 Observed each of the handicapped children had a variety of disabilities, but with a common cause

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Angelman Syndrome

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  1. Angelman Syndrome A PowerPoint by: Alexandra Vidaeff

  2. History • Dr. Harry Angelman, a pediatrician working in Warrington, England, first reported three children with the condition in 1965 • Observed each of the handicapped children had a variety of disabilities, but with a common cause • Laughing and jerky movements • Published an article which led to case reports in the US in the early 1980s • In 1987, it was noted that one of the causes was a small piece of chromosome 15 missing

  3. Genetics • Results from the loss of function of a gene called UBE3A • People normally inherit one copy of the UBE3A gene from each parent • Both copies are turned on in many of the body’s tissues • In certain areas of the brain, only the maternal copy is active • This is caused by genomic imprinting • If the maternal copy of the UBE3A gene is lost because of a chromosomal change or a gene mutation, a person will have no active copies of the gene in some parts of the brain

  4. Genetics Continued • Several different genetic mechanisms can inactivate or delete the maternal copy of the UBE3A gene • Most cases (about 70%) occur when a segment of the maternal chromosome 15 containing this gene is deleted • In other cases (about 11%), Angelman Syndrome is caused by a mutation in the maternal copy of the UBE3A gene • In a small percentage of cases, a person inherits two copies of chromosome 15 from the father, instead of a copy from each parent (paternal uniparental disomy)

  5. Symptoms • Delayed Development • Intellectual Disability • Severe Speech Impediment • Problems with Movement and Balance • Recurrent Seizures • Small Head Size • Distinctive Facial Features • Frequent smiling, laughing, and hand-flapping movements • Hyperactivity, short attention span • Difficulty sleeping

  6. Lifestyle • Healthy and active lifestyle • Normal lifespan • Generally happy and contented people • Profound desire for personal interaction with others • Communication may be difficult at first • Many people with Angelman Syndrome improve their living skills with support • Unlikely that individuals with Angelman Syndrome will live independently

  7. Famous People Affected • Sons of Actor Colin Ferrell, Author Ian Rankin, and Professional Baseball Player Dave Henderson all have Angelman Syndrome

  8. Treatment • Currently no cure • Early diagnosis and early intervention is the best treatment • Epilepsy can be controlled by anticonvulsant medications •  Physical and occupational therapies, communication therapy, and behavioral therapies are important in allowing individuals with Angelman Syndrome to reach their maximum developmental potential • No methods to prevent Angelman Syndrome

  9. Works Cited • http://ghr.nlm.nih.gov/condition/angelman-syndrome • http://www.peds.ufl.edu/divisions/genetics/programs/angelman_syndrome/ube3a_gene.htm • http://en.wikipedia.org/wiki/Angelman_syndrome

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