Clinical Expert Panel session at the 2022 ASF Family Conference

Quick Overview

The Clinical Expert Panel at the 2022 ASF Family Conference provided insights into managing Angelman syndrome. The panel discussed common medical issues across different age groups, including feeding, growth, seizures, sleep, and constipation. Gastrointestinal issues were highlighted, with recommendations for daily preventive measures and dietary changes. The role of diet in managing reflux and constipation was discussed, with low-glycemic diets recommended. Seizures were briefly discussed, with the need for a baseline EEG and preventive medication emphasised. Other medical considerations included the potential improvement in symptoms when on antibiotics, the possibility of immune deficiency, and the importance of connecting with specialist clinics. The benefits of speech and motor therapy were discussed, with physical therapy and stretching exercises recommended. The panel emphasised the importance of specialised care and regular assessments, and discussed the changes in medication and additional support needed during puberty.

Introduction

The Clinical Expert Panel session at the 2022 ASF Family Conference featured a Q&A with a panel of clinicians who specialize in Angelman syndrome. The panel included Dr. Jessica Duis, Dr. Ron Thibert, Dr. Elizabeth Berry-Kravis, and Dr. Mark Nespeca. The session provided valuable insights into common medical issues across different age groups, the importance of early intervention and support services, and practical tips for managing these issues.

Common Medical Issues in Angelman Syndrome

The session began with an overview of common medical issues in Angelman syndrome across different age groups. Dr. Duis emphasized the importance of genetic information and psychosocial support for newly diagnosed families. The panel discussed medical issues in early childhood, including feeding, growth and development, seizures, sleep, and constipation. Dr. Thibert explained how these medical issues change in school-age children and adolescents, including an increased risk of seizures, improved sleep, and worsening anxiety and myoclonus. Dr. Berry-Kravis and Dr. Nespeca discussed medical issues in adulthood, including living arrangements, seizures, behavior, and sleep.

Gastrointestinal Issues

GI issues, such as constipation, reflux, and cyclic vomiting, were discussed in detail. The panel recommended daily preventive measures for constipation, such as magnesium supplements or Oxy-Powder. Reflux was highlighted as a common issue and may require medication or dietary changes. Cyclic vomiting was mentioned as a potential complication of gagging and anxiety, and treatment options were discussed. The panel emphasized the importance of recognizing and addressing GI issues, as they can impact other aspects of a person’s life. The use of oils in the diet was recommended for individuals on low-glycemic or ketogenic diets, and practical tips for incorporating oils into meals were provided.

Diet and Reflux/Constipation Management

The panel discussed the role of diet in managing reflux and constipation. They recommended the use of low-glycemic diets and mentioned the publication “Management of Angelman Syndrome: Evidence-Based Practice Guidelines” as a valuable resource for clinicians and families. The panel also provided practical tips for incorporating oils into meals, such as adding them to yogurt or using them in bottles or sippy cups.

Seizures and Other Medical Considerations

The panel briefly discussed seizures in Angelman syndrome, including the types of seizures that may occur and the importance of video documentation. They emphasized the need for a baseline EEG and preventive medication for seizures. The panel recommended getting an EEG if there are any suggestive symptoms of seizures and highlighted the value of videos in aiding diagnosis. The use of diet, particularly low-glycemic diets, was mentioned as a potential preventive measure for seizures.

Other Medical Considerations

The panel addressed various other medical considerations in Angelman syndrome. They stated that small, benign arachnoid cysts usually do not require monitoring. The potential improvement in symptoms when an individual with Angelman syndrome is on antibiotics was discussed, which may be related to GI symptoms or aspiration. The possibility of immune deficiency or chronic aspiration was mentioned as a consideration for individuals frequently on antibiotics. The panel also highlighted the importance of connecting with clinics that specialize in Angelman syndrome for adults, as well as the need for standard tests and evaluations to create a baseline. Medication evaluation, iron deficiency, and holistic assessments of health and care needs were also discussed.

Speech and Motor Therapy

The panel discussed the benefits of speech therapy, including oral motor skills and swallowing, for individuals with Angelman syndrome, especially in relation to reflux. They also addressed motor issues in Angelman syndrome, such as delays in motor development, ataxic gait, and later onset of flexion contractures and mobility challenges. Physical therapy and stretching exercises were recommended to improve mobility and prevent contractures. The panel noted that pandemic isolation and reduced activity may have worsened motor issues in individuals with Angelman syndrome.

Support and Advocacy

The panel emphasized the importance of specialized care in areas such as GI, seizures, sleep, and behavior, while general knowledge may be sufficient for other aspects of care. They highlighted the need for regular assessments and monitoring in these areas, as well as the importance of having a team of healthcare providers who are knowledgeable about Angelman syndrome and can address specific symptoms and needs. The panel also discussed the changes in medication and additional support that may be needed during puberty to address seizures, behavior, and hormonal changes in individuals with Angelman syndrome.

Overall, the Clinical Expert Panel session provided valuable insights and practical advice for managing medical issues in Angelman syndrome across different age groups. The panel’s expertise and recommendations will undoubtedly benefit clinicians and families in providing the best possible care for individuals with Angelman syndrome.