Angelman Syndrome in Adulthood
Dr. Ron Thibert, a Harvard professor and director of the Angelman Clinic at Mass General, discussed Angelman Syndrome in adulthood at the 2015 ASF Family Conference. The first generation of adults with Angelman Syndrome is emerging, with little information available about their ageing process. The Angelman Clinic has seen 170 patients, 30% of whom are 15 or older. A 2014 study found 60% of adults with Angelman Syndrome were seizure-free, though there’s a discrepancy between survey and clinic studies. Myoclonus, a movement disorder, is common in these patients. Seizure medications include valproic acid, clonazepam, and lamotrigine, but side effects can occur. Sleep problems, gastrointestinal issues, orthopaedic issues, and behavioural issues are also common. Seizures and sleep problems tend to improve with age. Medications can affect ambulation and balance, and alternatives should be considered if side effects are significant. Continuity of care, addressing sleep and gastrointestinal issues, and managing seizures and behavioural symptoms are crucial for improving quality of life.
Dr. Ron Thibert, a professor at Harvard and the director of the Angelman Clinic in Mass General, presented a keynote session on Angelman Syndrome in Adulthood at the 2015 ASF Family Conference.
The First Generation of Adults with Angelman Syndrome
The first generation of individuals with Angelman Syndrome are now reaching adulthood, and there is very little information available about what happens to them as they get older. Adult specialists typically do not have experience with Angelman Syndrome or developmental disabilities.
The Angelman Clinic at Mass General
The Angelman Clinic at Mass General is a multidisciplinary clinic that specializes in Angelman Syndrome. They have seen 170 people with Angelman Syndrome, with 30% of them being 15 years or older.
Seizure Rates in Adults with Angelman Syndrome
A study conducted in 2014 found that 60% of adults with Angelman Syndrome were seizure-free. However, there is a discrepancy between the survey study and the clinic study regarding seizure rates in adults with Angelman Syndrome.
Myoclonus and Movement Disorders
Myoclonus, a movement disorder, is common in teens and adults with Angelman Syndrome. These myoclonus episodes can last from seconds to hours and are not epileptic in nature. Seizures tend to decrease over time in individuals with Angelman Syndrome.
Seizure Medications and Side Effects
The most commonly used seizure medications for individuals with Angelman Syndrome are valproic acid, clonazepam, and lamotrigine. However, valproic acid can cause side effects such as increased tremor and decreased mobility.
Sleep problems are common in individuals with Angelman Syndrome and can be caused by medical issues, anxiety, and behavioral factors. Melatonin is commonly used to treat sleep problems in individuals with Angelman Syndrome. Behavioral techniques and medications can also be used.
Gastrointestinal issues such as constipation and reflux are common in individuals with Angelman Syndrome. These issues can worsen sleep problems, anxiety, myoclonus, and seizures, so it is important to address them.
Orthopedic issues, such as scoliosis, should be monitored in individuals with Angelman Syndrome. In a survey, 50% of individuals with Angelman Syndrome had scoliosis, mostly mild. 16% had osteopenia, which can lead to increased fractures. However, newer medications and more aggressive therapy may improve ambulation and bone health in the future.
In a survey, 72% of individuals with Angelman Syndrome were aggressive towards others, 52% were self-injurious, 48% were obsessive, and 47% seemed frustrated. Anxiety is a common issue and can present in various ways, including excessive swallowing and vomiting. Augmentative communication and literacy can help reduce anxiety by allowing individuals to express themselves better.
Overall Improvement in Adulthood
In Angelman Syndrome, seizures tend to improve as individuals get older, and sleep also improves in adulthood. Continuity of care is important to reduce anxiety and stress.
Medications like Depakote and Invega can affect ambulation and balance. It may be worth considering alternative medications if side effects are significant. Birth control pills can be helpful for seizures in individuals with Angelman Syndrome, and CBD oil shows promise as a treatment for seizures. Tenex may or may not be effective for anxiety in individuals with Angelman Syndrome.
In conclusion, Angelman Syndrome in adulthood presents unique challenges and requires specialized care. Continuity of care, addressing sleep and gastrointestinal issues, and managing seizures and behavioral symptoms are important for improving the quality of life for individuals with Angelman Syndrome.
- Title: Angelman Syndrome in Adulthood
- Author(s): Ron Thibert
- Author(s)’ affiliation: Massachusetts General Hospital
- Publication date: 2015-08-14
- Collection: 2015 ASF Family Conference