Angelman Syndrome, Life as an Angel: What is Angelman Syndrome?

Saturday, September 08, 2007

What is Angelman Syndrome?

What is it?
Angelman syndrome (AS) is a neurological disorder first described in 1965 by an English physician named Dr. Harry Angelman. Symptoms are usually evident after the age of three, and are characterized by severe congenital mental retardation, unusual facial appearance, and muscular abnormalities.

Who gets it?
While an exact count of cases of Angelman Syndrome in the United States is not available, the Angelman Syndrome Foundation has knowledge of around 1000 cases in the U.S. and Canada. Angelman Syndrome is found among all racial groups.

What are the symptoms?
Symptoms of Angelman syndrome include a stiff, unstable jerky gait, absent or diminished speech skills, hand flapping, excessive laughter/unusually happy demeanor, developmental delay, and small head size (microcephaly). Some patients may also develop epilepsy and have problems with balance.

Because it is difficult to detect the developmental problems associated with Angelman syndrome during infancy, children are usually diagnosed with the disorder between the ages of three and seven. Parents and doctors may notice a developmental delay between the ages of 6 and 12 months, but because the child does reach most developmental milestones during this stage, a diagnosis cannot be made. Brain scans are also normal at this time. By the age of two, however, the child with Angelman Syndrome will begin to show signs of microcephaly. By age three, clinical features of Angelman Syndrome are present, including speech impairment, movement or balance disorder, frequent laughter and smiling, easily excitable personality, hand flapping movements, and short attention span. Seizures may begin after the age of three. An abnormal electroencephalograph (EEG), a painless procedure in which wires are pasted to the scalp to record the brain's electrical activity, will also be found at this time. Some children with Angelman Syndrome will also have symptoms related to the mouth and jaw, including protruding tongue or tongue thrusting, sucking/swallowing disorders, feeding problems during infancy; a jaw that projects forward (prognathia), a wide mouth with wide-spaced teeth, frequent drooling, and excessive chewing/mouthing behaviors. Children may also have an imbalance of eye muscles so that one eye cannot focus with the other, called strabismus; under-pigmented skin, hair, and eye color; hyperactive lower limb deep tendon reflexes; uplifted, flexed arm position especially during movement; increased sensitivity to heat; sleep disturbances; and an attraction to/fascination with water.

Diagnosis/testing.
The diagnosis of Angelman syndrome rests upon a combination of clinical features and molecular genetic testing and/or cytogenetic analysis. Consensus clinical diagnostic criteria for AS have been developed. Analysis of parent-specific DNA methylation imprints in the 15q11.2-q13 chromosome region detects approximately 78% of individuals with AS, including those with a deletion, uniparental disomy, or an imprinting defect; fewer than 1% of individuals have a cytogenetically visible chromosome rearrangement (i.e., translocation or inversion). UBE3A sequence analysis detects mutations in an additional ~11% of individuals. Accordingly, molecular genetic testing (methylation analysis and UBE3A sequence analysis) identifies alterations in about 90% of individuals. The remaining 10% of individuals with classic phenotypic features of AS have a presently unidentified genetic mechanism and thus are not amenable to diagnostic testing.

What is the treatment?
Treatment of Angelman Syndrome is focused on providing physical therapy and adaptive devices to assist with gait and balance problems. Speech therapy is recommended for language problems. Patients with epilepsy are prescribed anticonvulsant medications.

Self-care tips
There is no known way to prevent Angelman Syndrome; however, the Foundation for Angelman Syndrome Therapeutics is very close to developing real treatments for this disorder. To learn more, go to www.CureAngelman.org Parents of children with these types of disorders usually find strength, valuable information, and comfort from support groups, often on Facebook.

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What is Angelman Syndrome?

About Brady

Read Brady's Story Here

I am 11yrs old and I have Angelman Syndrome. I may have this syndrome, but I dont let it hold me back. I love life and live it to the fullest every single day. My mom says that our research organization, Foundation for Angelman Syndrome Therapeutics, is working really hard on a treatment or even a cure for me and my friends. I am thankful to have 25 words but I look forward to the day that I can carry on long conversations and talk so much that everybody has to ask me to please be quiet for a few minutes :) Anyway, mom says Im awesome and super funny and I have to agree,lol.

See my complete profile

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