Down Syndrome and Celiac Disease 

Updated March, 2021 

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What is Down syndrome? 

Down syndrome is a genetic disorder characterized by a full or partial extra copy of chromosome 21 in all or some of the cells in an individual’s body and is the most common chromosomal disorder.  Chromosomes usually come in pairs of two, one from each parent, and are responsible for our inherited traits.  This additional chromosome, or portion of a chromosome, causes the common features of DS:    delayed language; impaired long and short-term memory; small head; small neck; decreased muscle tone; upward slant in eyelids; single crease in palm; flattened face. 

While some people with Down syndrome may possess all these traits, others may express very few.  Although most individuals with Down syndrome have mild to moderate cognitive delays, intellectual disabilities can range from very mild to severe. In addition to physical traits and cognitive function, DS can impact other areas of the body such as the heart and gastrointestinal tract.  

What causes Down syndrome? 

Older maternal age is the only factor known to increase the chance ocertain types of Down syndrome, especially after the age of 35. However, approximately 80% of children with Down syndrome are born to a mother under the age of 35, suggesting a largely unexplained syndrome.   

Due to advancements with antibiotics, clinical treatment, and corrective heart surgeries, adults with Down syndrome are living longer.  80% of adults with Down syndrome live until age 60, and some may live longer, which increases the need for related knowledge and awareness 

Screening for Down syndrome 

Testing for Down syndrome is typically offered in prenatal care appointments, but can only analyze risk of having a baby with Down syndrome.  These tests can help parents make informed decisions about higher sensitivity diagnostic tests.  For newborns, a baby’s appearance will often prompt healthcare providers to test for Down syndrome through a blood test that analyzes chromosomes.  

What is the connection between Down syndrome and celiac disease? 

Down syndrome is closely linked with autoimmune diseases, including celiac disease, but this connection is often overlooked.  Many people quickly justify gastrointestinal symptoms, cognitive behavior, and other medical ailments as simply part of the syndrome. However, experts believe that the incidence of celiac disease in individuals who have Down syndrome is approximately 5-10%. This compare to about a 1% prevalence of celiac disease in the general population. This prevalence warrants consideration of medical screening for celiac disease for those with Down syndrome. 

Celiac disease can cause a variety of symptoms or produce no overt symptoms at all.  Patients with Down syndrome generally present a symptomatic form of celiac disease, but many of these symptoms overlap with those experienced by children who have Down syndrome without celiac disease. 

Down syndrome symptoms 

Celiac disease symptoms 

Although the genetic causality of each of these medical conditions is clear, further studies are needed to understand the underlying mechanism.  (Note that genetic characteristics are necessary for the development of celiac disease, but other factors are also involved.) 

Celiac disease testing for those with Down syndrome 

Delayed diagnosis of celiac disease can lead to malnutrition, decreased growth, and serious health complications. Since celiac disease is more common in children with Down syndrome, screening is important for management of the diseaseDue to the higher prevalence of celiac disease among those with Down syndrome, the National Down Syndrome Society (NDDS) recommends that all children with Down syndrome between the ages of two and three undergo testing for celiac disease. Many in the medical field recommend celiac testing testing for those with Down syndrome, but it is important to explicitly ask about having your child tested.   

At first, children should be screened for celiac disease through a simple blood test that detects celiac disease antibodies. If a child tests positive for these antibodies, a small intestine endoscopy is generally  used to confirm celiac diagnosis. However, this may not be advised for very young children; discuss this with your healthcare provider. 

The NDSS additionally encourages doctors to screen adults with Down syndrome, especially if bowel changes, weight loss, and poor nutrition are reported. Once diagnosed with celiac disease, treatment includes removing all wheat, barley, and rye from a person’s diet and avoiding cross-contact with these foods as well. Note that it is important not to remove gluten from the diet before testing, as doing so can lead to invalid celiac disease testing results. 

Learn more about celiac disease and testing through our educational bulletins:  

Celiac Disease

Celiac Disease Testing in Children

 

Nutritional concerns with Down syndrome and celiac disease 

There are no specific nutrient deficiencies identified for those with both Down syndrome and celiac disease other than those frequently seen in celiac disease or those which result from poor dietary choices. Refer to common nutrient deficiencies associated with celiac disease in this educational bulletin: Nutrient Deficiencies and the Gluten-Free Diet 

How do I support a gluten-free diet for my child with Down syndrome? 

Providing your child with a gluten-free diet can feel overwhelming at first. Focus on changes that empower you and your child.   

Use these GIG educational bulletins and other resources as a guide to gluten-free living for your child:  

Celiac Disease in Children

Support for Children

Resources for Parents

 

For more information about Down syndrome, visit NDSS: https://www.ndss.org/

 

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References 

Du Y, Shan L, Cao Z, Fen J, Cheng Y. (2018) Prevalence of celiac disease in patients with Down syndrome: a meta-analysisOncotarget Jan 12; 9(4): 5387-5396.https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5797057/#!po=4.54545 

Ferrari S, Stagi S. (2021) Autoimmunity and Genetic Syndromes: A Focus on Down SyndromeGenes (Basil). Feb 13;12(2):268. https://pubmed.ncbi.nlm.nih.gov/33668420/  

 

 

Originally written for GIG by Madison Service, Bastyr University Dietetic Intern (2019) 

This article has been assessed and approved by a Registered Dietitian Nutritionist