Updated on February 8, 2023
Diagnosing autism is a complex process that can take weeks or even months and depends heavily on the expertise of the clinician. This time-consuming and subjective process is driven by an absence of simple diagnostic testing; the physical, psychological, and behavioral symptoms experienced by patients with autism span a broad spectrum, and thus far researchers have been unable to identify a single peripheral marker that can be used to achieve diagnostic clarity. However, in recent years, research on autism and peripheral markers has expanded beyond the search for a single diagnostic test. Researchers have begun using peripheral markers to explore autism-related comorbidities and specific symptom manifestations in patients with the disorder. Of particular interest is a recently-developed blood-based peripheral marker that can be used to identify autism-associated ileocolitis. In the future, clinicians and patients might be able to use information from a test for this peripheral marker to develop an effective, patient-specific strategy for the nutritional support of gastrointestinal symptoms in patients with autism.
The association between autism and gastrointestinal symptoms is well-documented. Studies show that autistic children are significantly more likely to experience symptoms such as constipation, diarrhea, pain during defecation, abdominal pain, bloating, and food intolerance or sensitivity. In many cases, these symptoms arise from well-known inflammatory bowel diseases; according to one estimate, autistic children are 1.3 to 2.4 times more likely to be diagnosed with co-occurring Crohn’s disease or ulcerative colitis than children without autism. However, a significant proportion of the patient population suffers from a unique inflammatory bowel disease variant that only occurs in patients who have autism: autism-associated ileocolitis.
Ileocolitis is a type of inflammatory bowel disease that affects the ileum (the back end of the small intestine) and the colon (the front end of the large intestine). Like other inflammatory bowel conditions, ileocolitis can cause significant gastrointestinal symptoms, such as chronic diarrhea, abdominal cramping, weight loss/trouble gaining weight, and chronic fatigue. Although there is no cure, identifying this condition is important because it can help patients and clinicians develop an effective strategy to manage ongoing symptoms.
In 2016, a group of researchers from Wake Forest University in Winston-Salem, North Carolina, published a study characterizing a blood-based peripheral marker for autism-associated ileocolitis. Prior to this study, the researchers had successfully used histological analysis—that is, a careful assessment of the patient’s gastrointestinal tissues—to distinguish between the gastrointestinal tissues of patients with autism-associated ileocolitis and tissues from patients with another inflammatory bowel disease, such as Crohn’s disease or ulcerative colitis, as well as from patients who displayed gastrointestinal symptoms that were not associated with inflammation. In their initial work, the researchers developed a molecular profile of autism-associated ileocolitis, down to the level of gene expression, which offered both researchers and clinicians exciting opportunities to explore possible therapy options that could be uniquely effective for patients with ileocolitis-associated autism.
However, the researchers recognized that their original method for distinguishing autism-associated ileocolitis from other inflammatory bowel conditions was not feasible for widespread use in clinical settings. Their work had relied on diagnostic endoscopy to obtain gastrointestinal biopsy tissue, which is a difficult, expensive, and highly invasive procedure to perform on children. Therefore, the researchers set out to develop a peripheral biomarker that could effectively distinguish between autism-associated ileocolitis and other gastrointestinal conditions.
To accomplish this objective, the researchers collected samples from 21 children who were diagnosed with autism, experienced chronic gastrointestinal symptoms, and had histologic inflammation of the ileum and/or colon. For the control group, they obtained samples from 24 children without ASD who experienced gastrointestinal symptoms but did not have histologic inflammation of the ileum or colon. They then used principal component analysis (PCA) to compare the whole genome expression profiles of both groups of participants. Ultimately, they found 59 gene transcripts that were expressed differently in the children with autism-associated ileocolitis. Of these, nine gene transcripts were expressed in the peripheral blood of autistic individuals, making it possible to diagnose autism-associated ileocolitis with a simple blood test for these transcripts.
The therapeutic implications of the distinction between autism-associated ileocolitis and other inflammatory bowel conditions are not fully clear. However, determining the root cause of GI symptoms can help clinicians and patients develop an effective management approach. If inflammation is identified as the underlying culprit, then clinicians might recommend therapies that specifically target inflammatory pathways. There are a variety of diets, such as the Autoimmune Protocol Diet, designed specifically to address inflammation in the gut. For patients who want to avoid restrictive diets, nutritional supplements that can modulate the inflammatory response offer an appealing alternative. For example, curcumin is known to support the body’s natural inflammatory response. Butyric acid might also help maintain a normal inflammatory response through several mechanisms; not only do studies suggest that butyric acid can directly modulate inflammatory response pathways in the GI tract, but that it also elevates glutathione (GSH), a powerful antioxidant that limits damage from free radicals.
Peripheral markers for autism-related conditions can be extremely valuable for patients and clinicians who are looking to manage complex symptoms. As new peripheral markers are identified, simple tests might make it easier to develop effective therapies in the future. For clinicians, parents, and patients who want to explore whether supplementation can provide nutritional support for autism-related ileocolitis, there are already a number of supplements on the market designed with the unique needs of individuals with autism in mind.
The power of Tesseract supplements lies in the proprietary science of proven nutrients and unrivaled smart delivery, making them the most effective for supporting neurological health and gastrointestinal health.*
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