Angelman syndrome is commonly mistaken for other disorders

4:05 PM, Aug 1, 2013   |    comments
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ARLINGTON, Va. (WUSA9) -- It is a disorder that is widely misunderstood, and sometimes mistaken for other conditions. 

Angelman syndrome is caused by a spontaneous genetic defect that doesn't run in families.  Many kids who have the neuro-genetic disorder were initially misdiagnosed.

At the age of 18 months, Arlington twins Anika and Sophia Bjorklund were diagnosed with cerebral palsy.  They started therapy and were fully walking by the time they were two-and-a-half years of age.

But at that point, their parents and doctors noticed something still seemed awry.

Fransesca Bjorklund, Anika and Sophia's mother says, "We started to realize that they weren't progressing quite like the other cerebral palsy children."

The twins also had trouble sleeping and suffered from seizures.

"The doctors and I talked about doing genetic testing at that point," adds Bjorklund.

Both of the girls were finally diagnosed with Angelman syndrome.  It is a neuro-genetic disorder that has some of the characteristics of cerebral palsy, and the developmental delays of autism.  That also why it is commonly misdiagnosed.

David Mittermaier, President of Capital ABA says, "Cerebral palsy often leads to a general life-long struggle with general gross motor skills.  Whereas Angelman starts out with gross motor skill defict and then leads to more vocal and communication deficits."

Mittermaier adds that Angelman syndrome is often misunderstood, even in the medical community.  One tell-tale characteristic that can help differentiate the syndrome from others: children with Angelman typically have happy, excitable demeanors with frequent smiles or outbursts of laughter.

Once properly identified, targeted therapies like Applied Behavorial Analysis, or ABA, can help a child with developmental delays and speech impairments.

"The most important part is to narrow the intervention focus into the area of deficit that you can attack.  Attack it early, attack it strong, and wait for the progress to come," adds Mittermaier.

With the right diagnosis for her twins, Fransesca is seeing a lot of progress as a result of the ABA therapy.  The girls also get medication to help them sleep at night and control their seizuress.

Bjorklund says, "It's really helped them increase their attention span and we've also seen progression in terms of their ability to learn new skills."

Most children are properly diagnosed 2 or 3 years late, which experts say is a lot of lost time for progression through therapy.

So far this year, over 1 million dollars have been raised by the Angelman Syndrome Foundation.  A fundraising walk was held in Columbia, Md. in May.  It was one of 28 different fundraising events nationwide.

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