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Angelman syndrome in adulthood.
Anna M Larson1, Julianna E Shinnick, Elias A Shaaya
1Pediatric Epilepsy Program, Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts.
American Journal of Medical Genetics. Part A
|November 28, 2014
Summary
Angelman syndrome (AS) affects adults with significant health issues, including seizures, sleep problems, and constipation. Management should focus on neurological, orthopedic, and behavioral challenges throughout their lives.
Area of Science:
- Neurogenetics
- Clinical Neurology
- Developmental Pediatrics
Background:
- Angelman syndrome (AS) is a rare neurogenetic disorder.
- Understanding the long-term health needs of adults with AS is crucial for effective management.
- Genotype-phenotype correlations in AS require further characterization, especially in later life.
Purpose of the Study:
- To investigate primary health issues in adolescents and adults with Angelman syndrome.
- To characterize the natural history of AS in older individuals.
- To explore genotype-phenotype correlations impacting adult health outcomes.
Main Methods:
- Caregiver-reported data collected via standardized phone interviews.
- Study included 110 adolescents and adults with AS (mean age 24 years).
- Analysis examined the impact of age, sex, and genotype on neurological, orthopedic, internal medicine, and psychiatric outcomes.
Main Results:
- High prevalence of seizures (41%), sleep dysfunction (72%), constipation (85%), and overweight/obesity (32%).
- Scoliosis affected 50%, with surgery needed for 24%; obesity disproportionately affected women, scoliosis surgery disproportionately affected men.
- Mobility (68% walk independently) and communication (13% speak >5 words) varied; 52% exhibited self-injurious behavior.
Conclusions:
- AS management requires addressing persistent seizures, sleep disturbances, and gastrointestinal issues into adulthood.
- Epilepsy may show a bimodal severity pattern, with potential recurrence in adulthood.
- Key clinical areas for adults with AS include seizures, sleep, aspiration, GERD, constipation, obesity, scoliosis, mobility, communication, and behavior.
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