Objectives: To assess the effect of a prospective screening strategy for the early diagnosis of coeliac disease (CD) in children with Down syndrome (DS).

Study Design: Blood samples were taken from 155 children with DS, as well as buccal swabs from nine of these children for the determination of HLA-DQ2 or HLA-DQ8 positivity. Independently of the IgA, anti-endomysium (EMA) and antitissue transglutaminase antibodies (TGA) were tested. An intestinal biopsy was performed to confirm CD.

Results: Sixty-three children (40.6%) were HLA-DQ2 or HLA-DQ8 positive and 91 were negative. Results of HLA-DQ typing of DNA isolated from blood and buccal swabs were identical. Eight of the positive HLA-DQ children were positive for EMA and TGA. CD was confirmed in seven of these by an intestinal biopsy and in one suggested by improvement on a gluten-free diet.

Conclusions: We found a prevalence of CD in children with DS of 5.2%, ie, 5–15 times higher than in the general population. We recommend HLA-DQ 2/8 typing from buccal swabs in the first year of life and starting serological screening the HLA-DQ-2 or DQ-8-positive children with DS at age 3 years. Early knowledge of the negative HLA-DQ2/8 status can avoid worry for CD for most children with DS.