Seizures and their Treatments in Angelman Syndrome 2020

Quick Overview

Dr. Ron Thibert, an expert in Angelman Syndrome (AS), discusses the types of seizures associated with AS, including tonic-clonic, myoclonic, absence, and atonic seizures. He also explains the EEG patterns observed in AS, such as the Notch Delta pattern. Treatment options for seizures in AS include medication, diet therapy, and surgical interventions. Medications like Keppra, Lamictal, and Clobazam are effective, but caution is needed with Depakote due to Angelman-specific side effects. Newer medications like Briviact and Epidiolex may also be beneficial. Diet therapy, such as the ketogenic diet and low glycemic index diet, can be effective, with the latter reducing seizures in one-third of patients by 90% or more. Surgical options are limited, but Vagus Nerve Stimulation (VNS) can reduce seizures. Early dietary therapy may delay seizure onset and improve developmental outcomes. Nonconvulsive status and non-epileptic myoclonus are also discussed. The Angelman Syndrome Clinic at MGH offers comprehensive care, and upcoming sessions by other experts are announced.

Introduction

Seizures are a common issue in individuals with Angelman Syndrome (AS). In this talk, Dr. Ron Thibert, an experienced researcher working with the AS population for over 10 years, discusses the different types of seizures and epilepsy syndromes associated with AS. He also explores various treatment options for managing seizures in AS.

Importance of Virtual Walk Event

Dr. Thibert highlights the significance of signing up for the virtual walk event on September 5th. This event provides an opportunity to support the AS community and raise awareness about the syndrome.

Interactive Session

During the session, attendees have the chance to ask questions and engage with Dr. Thibert, allowing for a more interactive and informative experience.

Types of Seizures in Angelman Syndrome

AS is associated with generalized seizures, including tonic-clonic, myoclonic, absence, and atonic seizures. Dr. Thibert explains the characteristics and impact of each seizure type on individuals with AS.

EEG Patterns in Angelman Syndrome

Dr. Thibert discusses the EEG patterns commonly observed in AS, including the Notch Delta pattern. Understanding these patterns can aid in the diagnosis and management of seizures in individuals with AS.

Treatment Options for Seizures

Treatment options for seizures in AS include medication, diet therapy, and surgical interventions. Dr. Thibert emphasizes the importance of addressing other symptoms and conditions, such as sleep issues and constipation, to improve seizure control.

Medications for Seizures in Angelman Syndrome

Dr. Thibert provides an overview of various seizure medications used in AS, including both broad-spectrum and non-broad spectrum options. Commonly used medications such as Keppra, Lamictal, and Clobazam have shown effectiveness in treating seizures in AS. However, caution is advised when using Depakote due to its potential Angelman-specific side effects.

Newer Medications

Dr. Thibert mentions newer medications, such as Briviact and Epidiolex, which may be effective in treating seizures in AS. These medications offer potential alternatives for individuals who do not respond well to traditional treatments.

Diet Therapy for Seizures in Angelman Syndrome

The ketogenic diet and low glycemic index diet are alternative treatment options for seizures in AS. Dr. Thibert highlights the effectiveness of the low glycemic index diet in AS, with one-third of patients experiencing a 90% or more reduction in seizures. This diet seems to work better in AS compared to the general population, although its efficacy may be reduced during nonconvulsive status or illness.

Surgical Options

Due to the nature of AS, surgical options for seizures are limited. However, Vagus Nerve Stimulation (VNS) is a surgical intervention that has shown promise in reducing seizures in AS. Dr. Thibert explains the procedure, which involves implanting a stimulator under the chest to send impulses to the brain.

Early Intervention and Developmental Outcomes

Starting dietary therapy, such as the ketogenic diet, early in individuals with AS may delay the onset of seizures or make them milder. Additionally, dietary therapy has been associated with improved developmental outcomes in some cases.

Nonconvulsive Status and Non-Epileptic Myoclonus

Dr. Thibert discusses nonconvulsive status, a type of prolonged seizure or series of seizures that do not stop, occurring in 50-90% of individuals with AS. He also addresses non-epileptic myoclonus, a movement disorder that can occur in AS, typically starting after puberty. Treatment options for these conditions are explored.

EEG Monitoring and Blinking Spells

The frequency of EEG monitoring in individuals with well-controlled seizures depends on individual circumstances and changes in symptoms. Dr. Thibert also explains that blinking spells and staring episodes can be signs of seizures, but they can also be related to tics or stereotypies. An EEG can help determine if these episodes are indeed seizures.

Angelman Syndrome Clinic at MGH

Dr. Thibert highlights the services provided by the Angelman Syndrome Clinic at MGH. The clinic offers tailored visits based on individual needs, ranging from urgent visits with a single specialist to comprehensive visits with multiple specialists. Specialists in neurology, gastroenterology, psychiatry, occupational therapy, physical therapy, and neuropsychology are available to provide comprehensive care.

Upcoming Sessions

Dr. Thibert informs attendees about upcoming sessions by other experts in the field. Dr. Jessica Duis will discuss the Angelman Syndrome diet, Dr. Stormy Chamberlain will cover research and clinical trials, and Dr. Becky Burdine will explore the genetics of Angelman Syndrome.

By attending this talk, individuals will gain valuable insights into seizures and their treatments in Angelman Syndrome, empowering them to make informed decisions regarding the management of seizures in individuals with AS.