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Celiac disease screening in 100 Turkish children with Down syndrome
Yasemin Alanay1, Koray Boduroğlu, Ergül Tunçbilek
1Clinical Genetics Unit, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Insights
This study screened 100 children with Down syndrome (DS) for celiac disease. Only 1% tested positive for antiendomysium antibody (EMA), suggesting a lower prevalence than previously observed in DS populations.
Area of Science:
- Pediatrics
- Gastroenterology
- Genetics
Background:
- Children with Down syndrome (DS) have an increased risk of celiac disease.
- Current screening strategies for celiac disease in DS patients require evaluation.
Purpose of the Study:
- To screen children with Down syndrome for celiac disease.
- To determine the prevalence of celiac disease markers in this population.
- To inform future screening strategies for DS patients.
Main Methods:
- Serological screening of 100 children with DS (age >2 years) using antiendomysium antibody (EMA) IgA.
- Exclusion of IgA deficiency by measuring serum IgA.
- Clinical assessment including physical examination, growth measurements, and gastrointestinal symptom interviews.
Main Results:
- One out of 100 (1%) children with DS was EMA IgA-positive; biopsy consent was refused.
- No IgA deficiency was detected in the study group.
- Reported gastrointestinal symptoms included abdominal distention (13%), anorexia (9%), and vomiting (7%).
Conclusions:
- The observed 1% EMA-positivity rate is the lowest reported among Down syndrome patients.
- This finding necessitates a discussion regarding potential modifications to current celiac disease screening protocols for DS individuals.
- Further research may be warranted to confirm these findings in larger cohorts.
Abstract:
The aim of this study was to screen a group of children with Down syndrome (DS) for celiac disease, and to define future strategies for screening the patients followed at our center. One hundred children over the age of two years with Down syndrome were serologically screened using antiendomysium antibody (EMA) IgA and serum IgA in order to exclude a concomitant IgA deficiency. Clinical assessment included detailed physical examination, measurement of weight and height plotted on growth charts for DS children followed by an interview of the patients and parents about gastrointestinal symptoms. Only one patient out of 100 (1%) was detected to be EMA IgA-positive. The child's family refused consent for the biopsy procedure. None of the patients had IgA deficiency. Abdominal distention was present in 13 (13%) patients, and anorexia in 9 (9%), vomiting in 7 (7%) and alopecia areata in 2 (2%) patients were also noted. Despite the small number of patients in our group, this result yielding 1% EMA-positivity is the lowest yet determined among DS patients. It has led us to discuss whether or not a change in our screening strategy is necessary.
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