Gastrointestinal dysmotility in Rett syndrome

Area of Science:

• Neurology
• Gastroenterology
• Genetics

Background:

• Rett syndrome is a rare neurodevelopmental disorder.
• Gastrointestinal (GI) dysmotility, including gastroesophageal reflux disease (GERD), constipation, and abdominal bloating, is common in Rett syndrome.
• Current management strategies for GI issues in Rett syndrome are often based on limited evidence.

Purpose of the Study:

• To develop evidence- and consensus-based clinical recommendations for the management of GERD, constipation, and abdominal bloating in individuals with Rett syndrome.
• To address the unique challenges in assessing and managing GI symptoms in patients with impaired communication.

Main Methods:

• A comprehensive literature review was conducted.
• An international, multidisciplinary expert panel utilized a modified Delphi process.
• Consensus was reached on 85 statements regarding clinical assessment and management.

Main Results:

• Consensus was achieved on 78 out of 85 statements.
• Recommendations emphasize a comprehensive assessment approach, considering communication impairments.
• A stepwise management strategy was identified, starting with conservative measures and progressing to pharmacological interventions or surgery if needed.

Conclusions:

• Gastrointestinal dysmotility is a frequent complication of Rett syndrome.
• These recommendations provide a framework to enhance clinical care for GI dysmotility in Rett syndrome.
• The study highlights the need for further research to strengthen the evidence base for managing these conditions.