Living with Angelman syndrome
A complex genetic condition mainly affecting the nervous system, with delayed development, little or no speech, and a happy, excitable manner.
Understanding Angelman syndrome
Features include delayed development, intellectual disability, severe speech impairment, and problems with movement and balance. Most children have seizures and a small head. Delays show by age 6 to 12 months. Children typically have a happy, excitable manner, with frequent smiling, laughter, and hand-flapping, and many need less sleep than usual. Sleep problems tend to improve with age.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Delayed development
- Severe speech problems
- Trouble with balance and coordination (ataxia)
- Seizures
- Small head size (microcephaly)
- Acid reflux
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, genetic specialists and seizure and epilepsy specialists.
- 3Consider genetic testing
Changes in UBE3A are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Angelman Syndrome Foundation and Epilepsy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Seizure and epilepsy specialists (epileptologist)
- Expert care
- Expert lists: Angelman Syndrome Foundation, Epilepsy Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Angelman Syndrome Foundation and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the UBE3A gene cause this condition. GARD lists autosomal dominant inheritance.
Also known as: angelman's syndrome; angelman’s syndrome; as
Patient organizations
- Angelman Syndrome FoundationAngelman syndrome · United States
- Foundation for Angelman Syndrome TherapeuticsAngelman syndrome · United States
- Epilepsy FoundationEpilepsy · United States
You are more than your diagnosis
Perspectives from people navigating life with Angelman syndrome.
Explore research for Angelman syndrome
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Find actively recruiting studies for Angelman syndrome with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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