Gastrointestinal Manifestations in Rubinstein-Taybi Syndrome

Area of Science:

• Pediatric Gastroenterology
• Clinical Genetics
• Developmental Pediatrics

Background:

• Rubinstein-Taybi syndrome (RTS) is a rare genetic disorder with diverse impairments.
• Gastrointestinal (GI) issues in RTS are not well-documented, despite anecdotal evidence of high prevalence.
• Existing data on GI symptoms in RTS comes from case reports and small patient series.

Purpose of the Study:

• To characterize the spectrum and prevalence of GI and nutritional comorbidities in children with RTS.
• To investigate the timing of GI symptom onset relative to genetic diagnosis in RTS patients.
• To evaluate the impact of interventions, including gastrostomy tube placement, on nutritional status and feeding in RTS.

Main Methods:

• Retrospective analysis of 85 children with RTS seen at a tertiary pediatric center (2013-2023).
• Review of patient records for reported GI symptoms, clinic evaluations, diagnostic procedures, and nutritional support.
• Analysis of growth parameters (weight, BMI z-scores) before and after interventions.

Main Results:

• Over half of RTS patients (54%) experienced GI symptoms, often preceding genetic diagnosis.
• Constipation was the most frequent symptom, followed by reflux, dysphagia, vomiting, and feeding difficulties.
• Nearly half of patients required gastrostomy tube support, leading to improved weight and BMI z-scores, with some transitioning to oral feeding.

Conclusions:

• Children with Rubinstein-Taybi syndrome have a significant burden of GI and nutritional problems.
• Early identification and comprehensive, multidisciplinary management are essential for addressing GI comorbidities in RTS.
• Interventions like gastrostomy tubes can improve nutritional outcomes in RTS patients with severe feeding issues.