Routine Screening for Celiac Disease in Children With Down Syndrome Improves Case Finding

Abstract

Objectives: Children with Down syndrome have an estimated 6-fold increased risk of developing celiac disease in the United States compared with the general population, yet the determination to screen for celiac disease in this population is not agreed upon. The objectives of this study are to assess the prevalence of celiac disease in children with Down syndrome in our center and compare features from this population identified clinically and through screening. Methods: This is a retrospective chart review of 1317 children with Down syndrome who received treatment at a single institution from 2011 to 2017. All participants (n = 90; 53.3% boys) met inclusion criteria of celiac disease diagnosis between 1 month and 22 years of age and Down syndrome. Clinical details were collected, which included the results from celiac disease screening tests, reason for diagnosis and/or testing, symptoms, nutrition notes, demographics, comorbidities, and outcomes. Results: Prevalence of celiac disease in our population of children with Down syndrome ages 3 years or older was 9.8%. Mean age at diagnosis was 9.24 years (SD = 4.98) with an average of 2.85 years (SD ± 3.52) lag from the onset of symptoms to diagnosis for children clinically identified in comparison with 1.69 years (SD ± 2.09) for children identified through routine screening. Eighty-two percentage of clinic patients received a diagnosis of celiac disease because of routine screening compared with clinical testing based on identified symptoms alone. Conclusion: Our results suggest the need for routine celiac disease screening in children with Down syndrome to improve case-finding and avoid diagnostic delay.

Autoimmunity and Genetic Syndromes: A Focus on Down Syndrome

“…Furthermore, many of the known classic symptoms of onset, such as constipation, short stature, and behavior problems, can occur more frequently among children with DS independently of celiac disease. Altogether, these problems can cause a delay in diagnosis, estimated for this study, of three years [36]. Despite the high prevalence and the difficulties in diagnosis, there is no agreement for screening guidelines, specifically on when to start.…”

“…As in the case of CD, an increased association between DS and the onset of diabetes mellitus has long been known. Specifically, subjects with DS have a 3-to 4-fold increased risk of developing T1D, which occurs more often at a younger age for them compared with the general population [29,36].…”

Celiac disease in children: A review of the literature

“…The North American Society for Paediatric Gastroenterology, Hepatology and Nutrition and The European Society for Paediatric Gastroenterology, Hepatology and Nutrition (ESPGHAN) recommend screening tests for celiac disease in children with Down syndrome due to the increased risk of developing celiac disease[ 28 ]. In a study conducted in 2020, involving 1317 pediatric patients with Down syndrome aged 3 and over, the prevalence of celiac disease was found to be 9.8% in children with Down syndrome[ 109 ]. If screening test for celiac disease is not done, the diagnosis of celiac disease is either overlooked or delayed in 82% of the patients with Down syndrome, thus causing increased morbidity[ 109 ].…”

COVID-19 and children with Down syndrome: is there any real reason to worry? Two case reports with severe course

“…Down syndrome (DS) is associated with several immune dysregulations [1]. Consequently, the risks of recurrent and severe infections, autoimmune diseases, and inflammatory conditions are commonly reported [2][3][4][5]. Immune disorders in DS account for a vast disease burden ranging from quality-of-life issues to more serious health issues and life-threatening issues.…”