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The gastrointestinal tract in Down syndrome
1Division of Pediatric Gastroenterology and Nutrition, New York Hospital, Cornell Medical Center, NY.
Progress in Clinical and Biological Research
|January 1, 1991
Summary
Down Syndrome (DS) is linked to various gastrointestinal anomalies. Research suggests multi-factorial inheritance and enhanced epithelial adhesiveness may explain these complex developmental defects in DS patients.
Area of Science:
- Developmental biology
- Genetics
- Gastroenterology
Background:
- Down Syndrome (DS) is associated with a high incidence of congenital gastrointestinal (GI) anomalies.
- Common GI lesions in DS include tracheo-esophageal fistula, duodenal obstruction, annular pancreas, imperforate anus, and Hirschsprung's disease.
- The precise morphogenetic mechanisms underlying these diverse GI abnormalities in DS remain unclear.
Purpose of the Study:
- To explore the underlying causes of gastrointestinal anomalies in Down Syndrome.
- To investigate potential common pathways and genetic factors contributing to these defects.
Main Methods:
- Review of existing literature on GI anomalies in Down Syndrome.
- Analysis of inheritance patterns suggesting multi-factorial traits.
- Consideration of in vitro experiments on fibroblast adhesiveness.
- Discussion of molecular genetic approaches and murine models.
Main Results:
- No single lesion is specific to Down Syndrome, indicating complex etiology.
- Potential contributing factors include failure of foregut canalization and neural crest cell migration.
- Enhanced epithelial adhesiveness is a proposed common pathway.
- GI developmental regulatory genes on chromosome 13q are implicated.
Conclusions:
- The etiology of GI anomalies in Down Syndrome is multifactorial and not fully understood.
- Further research using molecular genetics and animal models is crucial for elucidating these complex developmental processes.