Stormy Chamberlain, PhD, from the University of Connecticut’s Graduate Program in Genetics and Developmental Biology, provides an overview of Angelman syndrome and describes the diagnostic journey for many patients suffering from this rare disorder. 

Angelman syndrome is a rare neurodevelopmental disorder characterized by delayed development and cognitive disability. Common symptoms of Angelman syndrome include speech impairment, ataxia, seizures, sleep disorders, and microcephaly. Adults with Angelman syndrome tend to have coarse facial features, fair skin & hair color, and scoliosis. 

The most common cause of the syndrome is the loss of function in the UBE3A gene which is critical for neural communication but other genetic abnormalities may also lead to the disease.

According to Dr. Chamberlain, the diagnostic journey usually begins when parents and physicians notice a child is missing developmental milestones. A referral to a geneticist is often needed to diagnose the condition. Dr. Chamberlain claims that the diagnostic journey can be quite long if the typical causes of Angelman syndrome are not present. 

Currently, there are no approved therapies for Angelman syndrome and treatment primarily consists of behavioural interventions and pharmacologic management of symptoms. A recently announced collaboration between University of Connecticut and Ovid Therapeutics will hopefully lead to a treatment option for this rare condition.  

For more information on Angelman syndrome and other rare neurological disorders, visit checkrare.com/diseases/neurology.

 

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