Angelman Syndrome (AS) is a neuro-genetic disorder, affecting approximately 1 in 15,000 individuals in the general population. AS is diagnosed through a DNA (blood) test. The exact cause of AS has yet to be discovered. Common characteristics of AS include developmental delay, speech impairment and movement disorders. Cincinnati Children’s Angelman Syndrome Research and Treatment Center serves males and females of all ages affected by AS.
Since a cure for AS has not been developed, current treatment focuses on the management of symptoms, typically using an interdisciplinary approach to provide an individualized level of treatment for each patient. The Angelman Syndrome Research and Treatment Center provides educational materials, medication management for behavioral symptoms, behavioral and cognitive assessments, and behavioral interventions. Referrals for other services including speech therapy, occupational therapy, and special education consultation, can be made within Cincinnati Children's.
Characterization / Symptoms
Physical and behavioral characteristics vary based upon the individual. Not all persons with AS will have all characteristics.
- Severe developmental disability
- Speech impairment that is usually limited to no verbal speech
- Protruding tongue
- Wide mouth and wide-spaced teeth
- Hypopigmented skin, light hair and eyes, as compared to family members
- Movement or balance problems
- Frequent laughter/smiling
- Excessive chewing/drooling
- Fascination with water
- Sleep disturbance