ASF Clinical Network Panel Q&A

Quick Overview

The ASF Clinical Network Panel at the 2024 ASF Family Conference brought together experts to discuss best practices in managing Angelman Syndrome across the lifespan. The panel included specialists in paediatric epilepsy, clinical genetics, and developmental behavioural paediatrics, who shared insights on various aspects of care, from early diagnosis to adulthood. Key topics included the importance of early intervention services, managing common issues like seizures, reflux, and constipation, and the role of structured environments in addressing behavioural challenges. The panel also highlighted the significance of communication aids and the need for ongoing physical therapy to prevent issues like scoliosis and crouched gait. As individuals transition into adulthood, maintaining routines and addressing anxiety become crucial. The panel encouraged participation in the Natural History Study to improve understanding and management of Angelman Syndrome and emphasised the importance of collaboration between families and healthcare providers to optimise care.

The ASF Clinical Network Panel Q&A session at the 2024 ASF Family Conference brought together leading experts in Angelman Syndrome (AS) to discuss best practices in managing the condition across the lifespan. The panel included renowned specialists such as Ron Thibert, Wen-Hann Tan, Robert Carson, Mark Nespeca, Cesar Ochoa, and Elizabeth Jalazo, who shared their insights and experiences in treating individuals with AS.

Introduction to the Panel

The session began with each panelist introducing themselves and sharing their journey into the world of Angelman Syndrome. Ron Thibert, a Pediatric Epilepsy Specialist, recounted his involvement since 2006, highlighting the evolution of his clinic and the extensive experience gained over the years. Wen-Hann Tan, a Clinical Geneticist, emphasised the importance of the Natural History Study and encouraged participation to gather more data. Robert Carson, Mark Nespeca, and Cesar Ochoa also shared their unique paths and contributions to the field, underscoring the collaborative effort in advancing AS care.

Managing Angelman Syndrome Across the Lifespan

Early Childhood Concerns

The panel addressed common concerns for newly diagnosed infants and toddlers, such as developmental delays, feeding issues, and the importance of early intervention services. Mark Nespeca highlighted the need for genetic counselling and seizure management, while Cesar Ochoa emphasised the significance of communication and behavioural guidance. The discussion also touched on the role of EEGs in early diagnosis and the management of reflux and constipation.

School Age Challenges

As children with AS enter school, the focus shifts to ensuring appropriate educational placements and managing seizures. Ron Thibert discussed the importance of seizure plans and the impact of illness on seizure frequency. Cesar Ochoa stressed the need for effective communication with schools and the role of behavioural specialists in addressing challenges. The panel also highlighted the importance of augmentative communication to mitigate frustration and behavioural issues.

Adolescence and Puberty

The transition into adolescence brings new challenges, including increased anxiety and the onset of puberty-related issues. Ron Thibert noted the potential for improved seizure control during puberty but warned of heightened anxiety and behavioural changes. The panel discussed strategies for managing separation anxiety and the importance of maintaining structure and routine.

Adult Considerations

The session briefly touched on adult issues, such as movement disorders and the importance of maintaining physical therapy to prevent conditions like crouched gait. The panel acknowledged the need for more data on bone density and the challenges of transitioning to adult care. They emphasised the importance of routine and structure in adult living environments and the potential benefits of new anti-obesity treatments.

Audience Engagement and Questions

The session concluded with an open Q&A, where audience members raised concerns about alternative therapies, the transition to adulthood, and the management of specific symptoms like cyclic vomiting and obesity. The panelists provided insights into complementary therapies, the importance of evidence-based practice, and the potential of new treatments.

Overall, the ASF Clinical Network Panel Q&A provided a comprehensive overview of the challenges and strategies in managing Angelman Syndrome across different life stages. The session underscored the importance of collaboration, research, and community support in improving the lives of individuals with AS and their families.