Angelman Syndrome through the Lifespan

Quick Overview

Angelman Syndrome is typically diagnosed between 6 to 12 months of age, with symptoms including developmental delay, low muscle tone, feeding problems, and seizures. Communication difficulties, sleep problems, and behavioural issues are common. In adulthood, seizures and sleep problems tend to improve, but gastrointestinal issues persist. Orthopaedic issues may improve due to better treatments. Challenging behaviours, including aggression and self-injury, are common, often triggered by anxiety and frustration. Around 80-90% of children with Angelman Syndrome have seizures, but this decreases in adulthood. Approximately two-thirds of individuals with Angelman Syndrome can walk independently. Physical therapy is recommended throughout their lives to maintain mobility. There is optimism for the future with advancements in treatments and therapies.

Introduction and Housekeeping Notes

The speakers introduce themselves and provide some housekeeping notes for the conference. There will be two breaks during the day.

Outcome Measure Study

There is a study at the conference on a possible outcome measure for clinical trials.

Diagnosis and Symptoms in Infancy

• Angelman Syndrome is not recognized during pregnancy and is typically diagnosed around 6 to 12 months of age.
• Common symptoms in infancy include developmental delay, low muscle tone, feeding problems, reflux disease, and cortical visual impairment.
• Tremors and myoclonus can also be present in infancy.
• Early social emergence and characteristic EEG features are seen in infants with Angelman Syndrome.
• Seizures typically start around age two.
• Other features include strabismus, flattening of the back of the head, hypopigmentation, and failure to thrive.
• Infants with Angelman Syndrome may have difficulty with temperature regulation, particularly heat intolerance.
• Microcephaly is a characteristic feature that is typically present by age two.

Communication and Behavioral Challenges in Infancy

• Communication difficulties in Angelman Syndrome are primarily related to expressive language and apraxia.
• Sleep problems are common in this age range, with abnormal sleep-wake cycles reported.
• GI concerns, such as constipation and reflux, are prevalent in this age range.
• Anxiety and behavioral issues, such as separation anxiety and aggression, can be present in infants with Angelman Syndrome.
• Hyperactivity, impulsivity, distractibility, and stereotypy are other behavioral impacts seen in this age range.
• Growth patterns in Angelman Syndrome include lower height and weight, as well as the potential for scoliosis and pronation of the feet.

Adulthood and Improvements

• Seizures tend to improve in adulthood, with about 25% of adults still experiencing seizures.
• Sleep tends to improve in adulthood, with an average of 7.4 to 8 hours of sleep per night.
• GI issues, such as constipation and reflux, remain present in adulthood.
• Many individuals with Angelman Syndrome experience constipation and reflux.
• Orthopedic issues may improve in adults due to better treatments and therapies.
• Knee contractures and tendon lengthening surgery are common in adults with Angelman Syndrome.
• Scoliosis is common, with varying degrees of severity and the need for surgical intervention.
• Approximately 16% of adults with Angelman Syndrome have osteoporosis.
• Individuals with Angelman Syndrome have an increased risk for fractures due to decreased bone density.
• Challenging behaviors, including aggression, self-injury, and obsessive behaviors, are common in individuals with Angelman Syndrome.
• Anxiety and frustration are significant emotional triggers for challenging behaviors.
• Seizure medications may also be used to treat anxiety in individuals with Angelman Syndrome.
• Approximately 80-90% of children with Angelman Syndrome have seizures, but the frequency decreases in adulthood.
• Sleep tends to improve in individuals with Angelman Syndrome as they get older, but issues with sleep consolidation may persist.
• Gastrointestinal issues, such as constipation and reflux, remain a concern throughout the lifespan.
• Approximately two-thirds of individuals with Angelman Syndrome are able to walk independently.
• Non-epileptic myoclonus, characterized by severe twitching, can be a significant quality of life issue.
• Treatment options for non-epileptic myoclonus include adjusting seizure medications, identifying triggers, and using medications such as benzos and anti-myoclonus drugs.
• The natural history study for Angelman Syndrome may offer options for remote participation through telemedicine.
• Physical therapy is recommended for individuals with Angelman Syndrome throughout their lives to maintain mobility and prevent contractures.
• Some individuals with Angelman Syndrome may develop a crouch gait, which may be addressed through intensive physical therapy, braces, and aquatic therapy.

Conclusion

Overall, there is room for optimism in the future with advancements in treatments and therapies for Angelman Syndrome.