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 Hospital Medical Center’s Angelman Syndrome Research and Treatment Center, led by Logan Wink MD, 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, included, but not limited to 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.

Cognitive characteristics:

  • Severe developmental disability
  • Speech impairment that is usually limited to no verbal speech

Physical characteristics:

  • Protruding tongue
  • Wide mouth and wide-spaced teeth
  • Hypopigmented skin, light hair and eyes, as compared to family members

Behavioral characteristics:

  • Movement or balance problems
  • Frequent laughter/smiling
  • Excessive chewing/drooling
  • Fascination with water
  • Sleep disturbance

Research

Through participation in clinical trials, The Angelman Syndrome Research and Treatment Center supports ongoing efforts to the contribution of scientific research in order to provide better outcomes for patients and families affected by AS. Learn more about Dr. Logan Wink’s Angelman Syndrome lab and current studies.

Schedule an appointment / Make a referral

For referrals, questions, or to receive more information about research studies, contact Cincinnati Children’s Angelman Syndrome Research and Treatment Center’s coordinators via email at angleman@cchmc.org  

Normal business hours are between 8 am and 5 pm Monday through Friday.