Question:
In addition to DS, ASD, and the autoimmune conditions I mentioned in my prior question, my son had a history of reflux, which resolved around age 8. Around the time the reflux resolved, he developed intermittent constipation and diarrhea that has not been resolved with any combination of Miralax, Senna syrup, and ExLax. I have been reading a lot about the microbiome and stool transplantation. I know that stool transplantation is used to treat chronic C. Diff but I wondered whether it was indicated for any other GI conditions in individuals in DS with or without autism.
Answer:
Constipation is a common co-occurring condition in people with Down syndrome (1). Constipation is just one of the many manifestations of dysfunction of motility (the movement of food and liquid through the gastrointestinal tract) that can be found in people with Down syndrome. The dysfunction can impact multiple areas of the gastrointestinal tract including the:
- Mouth and pharynx: dysphagia or swallowing dysfunction
- Esophagus and stomach: achalasia (2), gastroparesis (3) and gastroesophageal reflux disease (4)
- Small intestine: irritable bowel syndrome (5) and pseudo-obstruction (6)
- Large bowel: constipation and incontinence
Treating constipation
There are a number of ways to address constipation including diet, exercise, and fiber supplements (1). Medications can be added when these options are not successful. Constipation can be very challenging to treat in some individuals with Down syndrome.
What is fecal microbiota transplantation (FMT) (stool transplantation) used for?
FMT is the transplanting of filtrated stool from a healthy donor to another person for the purpose of addressing a specific health problem. The stool can be given in pill form, given via a colonoscopy, or given via a nasoduodenal tube (tube placed in the nose and threaded through the stomach to the small intestine).
As noted by the person asking the question, it can be used for recurrent and difficult-to-treat Clostridia difficile (C. diff) infections. C. diff is a bacterium commonly found in the gastrointestinal (GI) tract. At times, it can overgrow and lead to an infection in the GI tract that can cause significant diarrhea. The overgrowth typically occurs after taking an antibiotic to treat an infection (for example, pneumonia or bladder or skin infections). A negative consequence of taking an antibiotic can be that, in addition to treating the infection, it also reduces “good” bacteria or alters the typical bacteria found in the GI tract (the “gut flora”). This reduction or change in bacteria can allow for the overgrowth of C. diff. This is usually treated with other antibiotics that specifically attack C. diff. However, in some individuals, C. diff can be very difficult to treat, and occasionally fecal transplantation is recommended after failed trials of antibiotics. There are limited reports on the use of fecal transplantation in people with Down syndrome to treat C. diff. (7, 8).
For the purpose of treating resistant C. diff, the use of fecal transplant is considered investigational per the United States Food and Drug Administration (FDA) (9). The FDA website provides warnings about the potential for transmitting infections through the stool and recommends carefully screening the stool for a variety of potential infectious organisms prior to it being given to a patient (10). An updated warning in April 2020 recommended to also screen for COVID-19 (11).
Are there other indications for FMT?
Use of FMT to treat gastrointestinal symptoms and behavioral challenges in people with Down syndrome and autism is being studied. Some studies have found differences in the gut flora of people with Down syndrome or autism while others have not (12,13,14). More study is needed to understand the implications of those findings. A number of studies have also been done on individuals in the general population assessing use of FMT for treating a variety of gastrointestinal symptoms (15-20). However, the FDA website does not indicate that there are any approved or recommended uses of FMT other than the investigational use of FMT to treat resistant C. diff.
Resources
- Constipation in Down Syndrome
- Achalasia
- Gastroparesis
- Gastroesophageal Reflux Disease
- Irritable Bowel Syndrome
- Intestinal Pseudo-Obstruction
- Serial Microbiota Analysis After Fecal Microbiota Transplantation in a Child with Down’s Syndrome
- Faecal Transplants for Children with Recurrent Infections
- Investigational status of Fecal Microbiota Transplantation
- Fecal Microbiota for Transplantation: FDA Safety Alert
- Fecal Microbiota for Transplantation: FDA New Safety Information
- Gut Microbiota in Autism and Mood Disorders
- Gut Microbiome in Down Syndrome
- The Gut Microbiota and Dysbiosis in Autism Spectrum Disorders
- Gut Microbiota and Chronic Constipation: A Review and Update
- Microbial Treatment in Chronic Constipation
- Fecal Microbiota Transplantation Beyond Clostridioides Difficile Infections
- Treatment of Slow Transit Constipation With Fecal Microbiota Transplantation: A Pilot Study
- Faecal Microbiota Transplantation Versus Placebo for Moderate-to-Severe Irritable Bowel Syndrome: A Double-Blind, Randomised, Placebo-Controlled, Parallel-Group, Single-Centre Trial
- The Effect of Fecal Microbiota Transplantation on Psychiatric Symptoms Among Patients with Irritable Bowel Syndrome, Functional Diarrhea and Functional Constipation: An Open-Label Observational Study