Gastrointestinal Dysfunction in Angelman Syndrome

Quick Overview

The presentation at the ASF Family Conference focused on gastrointestinal (GI) dysfunction in individuals with Angelman Syndrome, highlighting the neurological basis for these issues. Due to the extensive nerve connections to the GI tract, individuals often experience low muscle tone, leading to common problems such as constipation and reflux. The discussion covered various treatments, including the use of medications like MiraLAX, erythromycin, and newer options like Dupixent for eosinophilic esophagitis. The speakers also addressed dietary strategies, such as using MCT oil and ensuring adequate fluid intake, to manage symptoms. Questions from the audience revealed concerns about the safety and side effects of treatments like MiraLAX, and the potential for cyclic vomiting linked to anxiety or migraines. The session underscored the importance of personalised treatment plans and the need for ongoing management of GI issues throughout the lives of those with Angelman Syndrome.

The 2024 ASF Family Conference featured an insightful talk on gastrointestinal (GI) dysfunction in Angelman Syndrome, led by experts Dr. Ron Thibert, Amanda Tourjee, and Heidi Pfeifer. This session delved into the complexities of GI issues prevalent in individuals with Angelman Syndrome, offering both a scientific overview and practical advice for managing these challenges.

Understanding the Root Causes

Angelman Syndrome is primarily characterised by neurological and psychiatric symptoms due to abnormal gene expression in the nervous system. However, GI dysfunction is a notable exception, largely because the GI tract is heavily innervated, making it almost an extension of the nervous system. The low muscle tone seen in Angelman Syndrome extends to the intestines, leading to slower movement of food through the GI tract. This results in common issues such as constipation and reflux, as the slow transit allows more water to be absorbed, causing stool to harden.

Common GI Issues

The most prevalent GI problems in Angelman Syndrome include constipation and reflux, affecting over 80% and 50% of individuals, respectively. Cyclic vomiting, although less common, is more frequent in Angelman Syndrome than in the general population. This condition involves episodes of vomiting without typical illness symptoms like fever or diarrhoea and is thought to have a migraine component. Eosinophilic esophagitis, a severe form of food allergy, is also more common in Angelman Syndrome, requiring dietary adjustments and sometimes medication like Dupixent.

Dietary and Medication Considerations

Diet plays a crucial role in managing GI issues. Many individuals with Angelman Syndrome are picky eaters and may not consume enough fluids, exacerbating constipation and reflux. Medications such as Onfi, Klonopin, and Valium, while necessary for other symptoms, can further slow the GI tract. The session highlighted the importance of balancing medication with dietary strategies, such as using MCT oil and ensuring adequate fibre and fluid intake.

Addressing Constipation

The discussion provided practical advice on managing constipation, a significant concern for many families. MiraLAX is commonly used to soften stool, but its effectiveness can vary. Some individuals may require additional interventions like Ex-Lax or Smooth Move Tea to stimulate bowel movements. The experts emphasised the importance of tailoring treatment to each individual’s needs, considering factors like fluid intake and dietary habits.

Managing Reflux and Cyclic Vomiting

Reflux can worsen sleep and behavioural issues, making its management crucial. The session suggested using proton pump inhibitors as a trial to see if symptoms improve. For cyclic vomiting, medications like Topamax or periactin can be effective, treating the condition as a migraine variant.

Weight Management Challenges

Weight management is another challenge, with individuals with deletions often being underweight and those with UPD or imprinting centre defects tending towards hyperphagia. Strategies for managing weight include ensuring a balanced diet and, in some cases, implementing behavioural interventions to manage excessive eating.

Conclusion

The session concluded with a Q&A, addressing concerns about the safety of long-term MiraLAX use, the role of medications like erythromycin for motility, and the potential for GI issues to affect seizures. The experts underscored the importance of a comprehensive approach to managing GI dysfunction in Angelman Syndrome, integrating medical, dietary, and behavioural strategies to improve quality of life.