Celiac Disease and Gluten Sensitivity in Down, Turner and Williams Syndrome EP018

The medical community has an obligation to protect vulnerable populations, speaking up for any group that may not be able to advocate for themselves, and patients with Down, Turner, and Williams syndrome certainly fall into this category. Yet one facet of their health – one that could vastly improve quality of life – often goes overlooked.

There is a high prevalence of celiac disease among individuals with Down, Turner, and Williams syndrome, and it is recommended that these patients get tested annually. Unfortunately, many of the symptoms of celiac disease are attributed to the syndrome instead, and gluten sensitivity goes undiagnosed.

Today Nadine shares several case studies as well as her own experience working with patients with developmental delays. She covers the high incidence of celiac disease and non-celiac gluten sensitivity in Down, Turner, and Williams syndrome patients, the signs and symptoms of gluten damage, and the importance of annual screening in this population.

What's Discussed:

The prevalence of celiac disease and non-celiac gluten sensitivity in individuals with Down, Tuner and Williams syndrome

• Annual testing is recommended
• Signs and symptoms can be eliminated with a gluten-free diet

Tiffany's story

• Williams syndrome patient
• Suffered from stage 4 liver failure and diabetes
• Endured cracked, bleeding skin and fluid in the abdomen
• Tested positive for celiac disease
• Gluten-free diet resolved most of her symptoms

Alternatives to the standard blood test that could reveal non-celiac gluten sensitivity in Down syndrome patients

• The anti-gliadin antibody (AGA) is an excellent biomarker
• In a study published in the World Journal of Gastroenterology, 41% of Down syndrome patients had AGA antibodies

The importance of testing family members

• A mother who is malnourished during pregnancy may have a child with Down, Turner or Williams syndrome
• Celiac disease may disrupt fetal development

The overlap of celiac disease and Down syndrome

• Study found that 18 of 284 subjects ages two to 15 tested positive for celiac disease
• In another study, 11 of 47 had positive blood tests

Symptoms of celiac disease and non-celiac gluten sensitivity

• Diarrhea
• Abdominal pain
• Gas
• Bloating
• Constipation
• Short stature
• Brittle bones
• Osteoporosis
• Osteopenia
• Thyroid issues
• Anemia
• Type 1 diabetes
• Skin rash
• Decreased appetite
• Yeast overgrowth
• Lichen planus
• Difficulty swallowing

Nadine's story of an autistic patient

• Sweet gentleman who lived in group home
• Suffered from diabetes, repeated infections and self-harm
• Paleo diet made him calmer, didn't irritate his throat
• He enjoyed an improved quality of life

Cases of asymptomatic celiac disease in children with Down syndrome

• Study published in the International Journal of Pediatrics
• Toddlers screened at around 24 months
• Biopsy proven celiac disease identified in 3-9% of children with Down syndrome
• Not all patients with positive screens receive a biopsy if asymptomatic
• One child in the study gained weight and energy on a gluten-free diet
• A second child had less constipation and diarrhea
• Follow-up study reported that 66% had health improvement

Resources Mentioned:

"Screening for Celiac Disease in Down's Syndrome Patients Revealed Cases of Subtotal Villous Atrophy Without Typical for Celiac Disease HLA-DQ and Tissue Transglutaminase Antibodies" from the World Journal of Gastroenterology

"Prevalence of Celiac Disease in Down's Syndrome" from the European Journal of Gastroenterology and Hepatology

"Asymptomatic Celiac Disease in Children with Trisomy 21 at 26 Months of Age or Less" from the International Journal of Pediatrics

Other Resources:

"Celiac Disease" from the Pediatric Gastroenterology Board Review Manual

"The Coexistence of Down Syndrome and a Triad Consisting of: Coeliac Disease, Insulin Dependent Diabetes Mellitus and Congenital Hypothyroidism" from Down Syndrome Research and Practice

"Coeliac Disease in Williams Syndrome" from the Journal of Medical Genetics

"Turner Syndrome and Celiac Disease: A Case-Control Study" from Pediatrics

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Books by Nadine:

Dough Nation: A Nurse's Memoir of Celiac Disease from Missed Diagnosis to Food and Health Activism