1 / 11

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

zanna
Télécharger la présentation

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 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

More Related