Epilepsy in Angelman Syndrome

Quick Overview

The 2024 ASF Family Conference featured a session on epilepsy in Angelman Syndrome, led by neurologists Dr. Ron Thibert, Dr. Robert Carson, and Dr. Mark Nespeca. They discussed the prevalence of seizures in individuals with Angelman Syndrome, noting that 70-90% experience them, typically starting between ages two and four. The session covered seizure types, including tonic, atonic, clonic, and myoclonic, and the classification changes in recent years. Treatment options were explored, focusing on broad-spectrum medications, dietary therapies like the ketogenic and low glycemic index diets, and surgical options such as VNS and RNS. The session also addressed non-convulsive status epilepticus and non-epileptic myoclonus, emphasising the importance of identifying triggers and having a seizure management plan. The neurologists highlighted the need for personalised treatment plans and the potential for medication adjustments as patients age. The session concluded with a Q&A, addressing specific concerns from attendees.

The 2024 ASF Family Conference featured a compelling session on epilepsy in Angelman Syndrome, led by esteemed neurologists Dr. Mark Nespeca, Dr. Ron Thibert, and Dr. Robert Carson. This session was particularly significant for families dealing with the challenges of seizures, a common issue in individuals with Angelman Syndrome.

Understanding Seizures in Angelman Syndrome

Dr. Mark Nespeca began the session by providing an overview of seizures, which affect a significant proportion of individuals with Angelman Syndrome. He explained that seizures typically develop between the ages of two and four, often serving as a major indicator for medical evaluation. The types of seizures can vary, including myoclonic, atonic, and generalized tonic-clonic seizures. Dr. Nespeca also highlighted the importance of understanding seizure terminology and classifications, which have evolved over the years.

Treatment Options and Challenges

Dr. Ron Thibert discussed various treatment options for managing seizures in Angelman Syndrome. He emphasised the importance of addressing potential triggers such as poor sleep, gastrointestinal issues, and anxiety, which can exacerbate seizures. The primary treatment methods include medication, diet therapy, and, in rare cases, surgical options. Dr. Thibert noted that while medications like Clobazam, Keppra, and Lamictal are commonly used, newer options like Epidiolex and Briviact are also proving effective.

Dietary therapies, particularly the ketogenic diet and low glycemic index treatment, have shown promise in managing seizures. Dr. Thibert shared insights from studies indicating that these diets can be more effective in individuals with Angelman Syndrome compared to the general epilepsy population.

Addressing Non-Epileptic Myoclonus and Movement Disorders

Dr. Robert Carson focused on what to do when standard treatments are ineffective and addressed non-epileptic myoclonus and movement disorders. He stressed the importance of having a seizure management plan and using rescue medications like benzodiazepines as a “fire extinguisher” for seizures. Dr. Carson also discussed the potential use of medications like trihexyphenidyl for movement disorders, although more research is needed in this area.

Audience Engagement and Practical Advice

The session concluded with a lively Q&A, where the neurologists addressed various concerns from the audience. Topics ranged from the impact of temperature on seizures to the potential of repetitive transcranial magnetic stimulation (rTMS) as an emerging treatment option. The experts provided practical advice on managing seizures during travel and the importance of understanding the specific reasons for medication use, whether for seizures, mood, or sleep.

Overall, the session offered valuable insights and guidance for families navigating the complexities of epilepsy in Angelman Syndrome, highlighting the importance of personalised treatment plans and ongoing research to improve outcomes.