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Gastrointestinal complications of Russell-Silver syndrome: a pilot study
Jeff Anderson1, David Viskochil, Molly O'Gorman
1Department of Internal Medicine and Pediatrics, University of North Carolina, Durham, North Carolina 27713, USA. jeffery-anderson@med.unc.edu
Insights
Russell-Silver syndrome (RSS) is linked to frequent gastrointestinal issues. This study found 77% of RSS patients experienced symptoms like reflux and feeding difficulties, suggesting a need for better management.
Area of Science:
- Genetics and Pediatrics
- Gastroenterology
Background:
- Russell-Silver syndrome (RSS) is a genetic disorder characterized by growth retardation and distinct facial features.
- Gastrointestinal (GI) problems are noted in RSS but not widely recognized as major features.
- The frequency and specific types of GI complications in RSS require further investigation.
Purpose of the Study:
- To test the hypothesis that GI complications are more common in RSS than previously reported.
- To identify and characterize the spectrum of GI issues associated with Russell-Silver syndrome.
Main Methods:
- A pilot study was conducted using surveys distributed by the MAGIC support group for RSS.
- Surveys collected data on RSS diagnostic criteria and GI symptoms from 135 individuals.
- Strict diagnostic guidelines were applied to confirm RSS in 65 subjects before analyzing GI data.
Main Results:
- Of 65 confirmed RSS cases, 50 (77%) reported significant GI symptoms.
- The most prevalent GI complications included failure to thrive (63%), gastroesophageal reflux disease (34%), food aversion (32%), and esophagitis (25%).
- A significant association was found between RSS and gastrointestinal issues, particularly reflux-related problems.
Conclusions:
- Gastrointestinal complications, especially gastroesophageal reflux, esophagitis, and food aversion, are highly prevalent in Russell-Silver syndrome.
- These findings suggest that GI issues should be a key consideration in the diagnostic and management protocols for RSS patients.
- Further research is warranted to fully understand the pathophysiology and optimize treatment strategies for GI complications in RSS.
Abstract:
Russell-Silver syndrome (RSS) is a genetic syndrome with clinical manifestations of intrauterine and postnatal growth retardation, normal head circumference, body asymmetry, and distinctive facial appearance. We followed an infant diagnosed with RSS who had occurrence of multiple gastrointestinal complications. Although there are a number of published reports describing gastrointestinal problems associated with RSS, specific gastrointestinal diseases have not been recognized as major features. We hypothesize that gastrointestinal complications may be more frequent in RSS cases than previously reported. To address our hypothesis, we developed a pilot study of RSS cases to identify and characterize associated gastrointestinal complications. Surveys were distributed by MAGIC, a support group for individuals with RSS. Surveys included information on the objective and subjective characteristics used to diagnose RSS, as well as descriptions of gastrointestinal problems. Completed surveys were returned on 135 individuals. We used strict diagnostic guidelines to determine affected status of children reported in our survey. Of the 135 surveys completed, 65 were determined to have clear-cut RSS. The diagnoses were made without knowledge of the gastrointestinal symptoms of any of the subjects. Of the 65 subjects with "clear cut" RSS, 50 (77%) had gastrointestinal symptoms. Major specific symptoms included gastroesophageal reflux disease (34%), esophagitis (25%), food aversion (32%), and failure to thrive (63%). A common theme in gastrointestinal complications of RSS is significant gastroesophageal reflux that includes esophagitis and food aversion. Results of this survey suggest that there is an association of gastrointestinal complications with RSS that should be addressed in diagnosis as well as management protocols for children with this condition.