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More about Angelman Syndrome
When the maternal copy is missing or not functioning properly, the distinctive symptoms emerge. Developmental delay becomes apparent in the second half of the first year of life, with most children achieving limited or no meaningful speech.
Keep reading about Angelman Syndrome
Physical characteristics may include a wide mouth, pointed chin, and fair skin and hair. The seizure disorder typically appears in the second or third year of life and can be quite resistant to treatment.
Children with Angelman Syndrome often have a characteristic happy appearance with frequent smiling and laughter that can seem inappropriate to the situation. Despite their intellectual disabilities, many children develop meaningful connections with caregivers and family members. Life expectancy is generally normal or near-normal, though seizure management requires ongoing attention. Management is multidisciplinary, involving pediatric neurologists, therapists, and developmental specialists.
What are the symptoms of Angelman Syndrome?
These are common symptoms of Angelman Syndrome, and how strong they are varies from person to person.
- Severe developmental delay and intellectual disability
- Little or no speech, with limited communication abilities
- Ataxia (unsteady gait and jerky movements)
- Seizures, typically beginning between 2 and 3 years of age
- Frequent smiling, laughing, and happy demeanor
- Attention deficit and hyperactivity
Who gets Angelman Syndrome?
Angelman Syndrome typically manifests in infancy and early childhood, usually diagnosed between 6 months and 3 years of age. It affects males and females equally and occurs across all ethnic and racial groups. Most cases are caused by spontaneous genetic mutations, though some families have a hereditary pattern.
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Which new Angelman Syndrome medicines are in trials?
Investigational medicines Trial Friend tracks for Angelman Syndrome, with trial results, safety findings and where each one stands.
How to get help paying for Angelman Syndrome treatment
Charity funds and drugmaker programs for Angelman Syndrome, checked at the source.
No charity fund for this condition is open right now. Funds reopen when they receive new donations; the foundations let you sign up to be told when one opens.
Side effects people have reported to the FDA
Side effects people have reported to the FDA
Real-world side effect reports from the FDA Adverse Event Reporting System (FAERS). Includes both FDA-approved drugs and investigational therapies from active clinical trials. Click any drug to see what patients reported.
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Diagnosis and genetic testing
Genetic testing for Angelman Syndrome
Genetic testing can confirm a diagnosis, guide treatment decisions, and identify family members who may be at risk.
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Trusted Angelman Syndrome resources
Reputable organizations and medical references for learning more about Angelman Syndrome, including disease registries, foundation resources, and clinical guidelines.