Sunday, July 01, 2007

Rare seizure disorder is often mistaken for Autism and Cerebral Palsy

As Healthwatch Reporter Kellye Lynn reports, Angelman Syndrome is often mistaken for autism or cerebral palsy.AS was first described in 1965 when a physician noticed similar characteristics in three children. They had stiffness in their walks, difficulty with speech, occasional seizures and they would often laugh excessively.Justin Kushner is a 10-year-old boy who has been diagnosed with AS. But doctors say he has defied the odds.

"They told us he would never walk, talk, [or] go to the bathroom on his own," said Kushner's mother Melissa Kushner. "They told us we would probably wind up putting him in a home and my husband and I would get a divorce."Although it has not been easy for the Kushner family, Justin's case has been manageable and they avoided some of the pitfalls encountered with children who are misdiagnosed or never treated."Angelman's children have developmental delay, profound speech delay, a happy appearance and odd hand changes where their arms will go up," said Dr. Eric Kossoff from the Johns Hopkins Children's Center.

Seizures have also been common occurrences for many AS patients.Dr. Kossoff estimates about one in every 15,000 children and young adults have AS.Biologists have determined the disorder is caused by a genetic abnormality--specifically a change in chromosome 15, which is inherited from the mother.Experts also say AS is often missed in infancy because the developmental problems are not as evident.Most children with AS get diagnosed between the ages of three and seven with a blood test.

Although there is no known cure, Dr. Kossoff says seizure medications and occupational and speech therapy have been very effective."With a good parent and good care, these children can live long healthy lives," said Dr. Kossoff.Nearly a decade after being diagnosed with AS, Justin Kushner is feeding himself, forming words and going to school.Most children with AS have a normal life span. Diagnosing the syndrome as early as possible can help the child have a better quality of life.


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