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A PowerPoint by: Alexandra Vidaeff.  Dr. Harry Angelman, a pediatrician working in Warrington, England, first reported three children with the condition.

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Presentation on theme: "A PowerPoint by: Alexandra Vidaeff.  Dr. Harry Angelman, a pediatrician working in Warrington, England, first reported three children with the condition."— Presentation transcript:

1 A PowerPoint by: Alexandra Vidaeff

2  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  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  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)

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7  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

8  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

9  Sons of Actor Colin Ferrell, Author Ian Rankin, and Professional Baseball Player Dave Henderson all have Angelman Syndrome

10  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

11  syndrome syndrome  programs/angelman_syndrome/ube3a_gene. htm programs/angelman_syndrome/ube3a_gene. htm  drome drome


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