Health Issues in Adults with Angelman Syndrome
Research Investigates Health Issues in Adults with Angelman Syndrome
Dr. Ron Thibert, the well-known Angelman syndrome clinician and champion of the low-glycemic index dietary seizure treatment, and Dr. Anna Larson, both of Massachusetts General Hospital, published the findings from their clinical investigation into health issues that adults with AS experience.
The research team conducted standardized phone interviews with caregivers for 110 adolescents and adults with AS aged 16 to 50 years old. The impact of age, gender, and genotype on specific outcomes in neurology, orthopedics, internal medicine, and psychiatry were investigated, but did not address treatment. Further work should continue to refine the observable characteristics of older individuals with AS. Primary areas of clinical management identified in this research include seizures, sleep, aspiration risk, GERD, constipation, dental care, vision, obesity, scoliosis, bone density, mobility, communication, behavior, and anxiety.
The following is a summary of their findings.
- Present in 41% of individuals
- Epilepsy severity may assume a bimodal age distribution: seizures are typically most severe in early childhood but may recur in adulthood
- Present in 72% of individuals
- Late-adolescent and adult sleep patterns are improved when compared to the degree of sleep dysfunction present during infancy and childhood
- However, prevalence of poor sleep in adults remains quite high
- Present in 85% of individuals
Overweight / Obesity
- Present in 32% of individuals, with obesity disproportionately affecting women
- Affects 50% of individuals with an average age of diagnosis at 12 years old
- 24% of those diagnosed with scoliosis required surgery, an intervention disproportionately affecting men
- 68% are able to walk independently
- 13% are able to speak 5 or more words
- 52% of individuals exhibit self-injurious behavior