By Dr. Elizabeth Mumper, TACA Physician Advisory Member
Parents have been telling their clinicians that gastrointestinal issues (GI) have plagued their children with autism for several decades. Unfortunately, in many cases, the reported symptoms were written off as part of the autism and may not have received the thorough attention and evaluations that were warranted.
McElhanon and her colleagues have searched the medical literature for relevant articles published between 1980 and 2012 (1.) The pool of studies that met criteria for analysis included 2,215 children. The authors discovered documentation through a careful meta-analysis that children with autism spectrum disorders experience significantly more general GI symptoms than comparison groups. In fact, children with autism are 4.42 times more likely to have gastrointestinal symptoms than other children.
In particular, children with autism are:
- 3.63 times more likely to have diarrhea
- 3.86 times more likely to have constipation
- 2.45 times more likely to have abdominal pain
At the first meeting of the Autism Research Institute sponsored Defeat Autism Now! Think Tank in 1995, smart people from around the globe met to discuss GI problems in children with autism and what to do about them. Thus was born a dynamic movement, comprised of dedicated clinicians, researchers and parents working together, to address the complex symptomatology, physiology, biochemistry and pathology of the gastrointestinal tracts of children with autism spectrum disorders. It became quickly apparent that other developmental and behavioral disorders shared an affiliation with GI tract symptoms and problems. Hence, the emphasis over the years was on the “gut-brain connection.”
Fast forward fifteen years later to 2010, when Dr. Tim Buie and many colleagues published “Evaluation, Diagnosis, and Treatment of Gastrointestinal Disorders in Individuals with ASDs: A Consensus Report” in the January 1, 2010 edition of Pediatrics, the most widely read pediatric medical journal. This is an excerpt from their abstract: “Autism Spectrum Disorders (ASDs) are common and clinically heterogeneous neurodevelopmental disorders (2.) Gastrointestinal disorders and associated symptoms are commonly reported in individuals with ASDs…The consensus expert opinion of the panel was that individuals with ASDs deserve the same thoroughness and standard of care in the diagnostic workup and treatment of gastrointestinal concerns as should occur for patients without ASDs. Care providers should be aware that problem behavior in patients with ASDs may be the primary or sole symptom of the underlying medical condition, including some gastrointestinal disorders.” The consensus panel went on to make 23 statements intended to provide guidance for clinical management and future research studies.
In my opinion, one of the most important statements was about pain presenting as behavioral symptoms: “The consensus expert opinion of the panel was that individuals with ASDs deserve the same thoroughness and standard of care in the diagnostic workup and treatment of gastrointestinal concerns as should occur for patients without ASDs. Care providers should be aware that problem behavior in patients with ASDs may be the primary or sole symptom of the underlying medical condition, including some gastrointestinal disorders.” The Buie consensus article was instrumental in enlightening physicians about the state of the science about gastrointestinal disease in children with autism and providing some guidance for management strategies.
However, the wheels of change in the way medicine is practiced move very slowly…
Let’s fast forward again to the present. In the body of the meta-analysis article, some interesting facts emerge:
- Children with autism have a fivefold risk of developing feeding problems compared to their peers
- Children with autism are at greater risk for suboptimal breastfeeding which may result in atypical colonization of the gut microbiome in ASD
- Atypical feeding patterns in ASD place the children at risk for long-term nutritional problems or medical complications that cannot be identified by the standard height and weight measurements
- In a treatment network of 14 academic medical centers in the U.S., feeding and GI problems were reported in 50% of patients who participated in the treatment protocols.
Research about feeding problems and gastrointestinal problems was recently elevated to priority status by the National Institutes of Health Interagency Coordinating Committee.
In the discussion section of the article, the authors state that the patterns found in the published literature corroborated anecdotal reports by parents and clinicians. Their analysis reinforces the expert consensus panel conclusion that children with ASD who are suspected of having GI problems should be evaluated, and that practitioners should consider a lower threshold for referring to a gastroenterologist for evaluation and treatment. The authors also reinforce the idea that problem behaviors like aggression, sleep disturbances, self-injury and irritability may be the ONLY signs of GI problems.
- However, they state that insufficient data is available in the medical literature to determine whether gastroesophageal reflux, gastroenteritis, food allergies or inflammatory bowel disease are more common among children with ASD.
o My clinical experience is that those problems are more common in the hundreds of children with autism I have seen, but, alas, that is anecdotal.
They state that dietary interventions (including the gluten free or casein free diet, nutritional supplements, enzymes and antimicrobial agents) have not been substantiated by empirical investigation.
o As a clinician, I will continue to utilize whatever tools in my tool box are indicated after a careful history, exam and laboratory investigation after considering the risk benefit ratio for the individual patient.
- They state that the MMR controversy, involving a potential link between parent reports of regression after MMR vaccine and potential gut pathology, probably deterred investigators from dedicating resources to examining gastrointestinal functioning in children with autism.
o Suffice it to say that, in my opinion, the whole MMR issue is widely misunderstood and not likely to be sorted out in my lifetime.
The authors acknowledged that the following factors may play important and interwoven roles:
- Immune abnormalities
- Dysfunction of the gut lining
- Problems with the movement of contents through the GI tract
- Feeding issues
- Abnormal toileting behaviors
- The gut microbiome (the population of gut germs that outnumber us 10 to 1)
The article abstract by McElhanon and her colleagues concludes: “Identified studies involved high methodological variability and lack of comprehensive data prohibited analysis of GI pathophysiologies (e.g., gastroesophageal reflux) typically associated with organic etiologies, limiting conclusions about the underpinnings of the observed association. Future research must address critical questions about the causes and long-term impact of GI symptoms in ASD. Such analyses will require more systematic research and clinical activities, including improved diagnostic screening, standardized assessment, and exploration of potential moderators (e.g., dietary restrictions).” In other words:
- Lots of different methods were used in the studies
- Conclusions could not be drawn about causes of the GI problems from which the children suffered
- More research is needed which will require lots of children to be assessed with the same tools looking at a variety of treatments which may be helpful
How did I feel after reading this article? Depressed and discouraged.
I am grateful to Dr. McElhanon and her colleagues for adding this meta-analysis to the literature. However, the history of the suffering of these children and their families as the standard wheels of medical research and practice continue to turn slowly is an indictment of how poorly our medical system is structured to care for people with complex chronic illness. As we wait for the well designed, carefully controlled, standard scientific studies to study one variable and draw conclusions, we are missing critical windows of opportunity for clinicians to address the symptoms of the individual patients who come to us for help. Furthermore, standard clinical trials are not well equipped to take into account multiple factors that comprise individuality in the patient, including, but not limited to:
- Genetic predispositions in multiple single nucleotide polymorphisms
- Individual variations in function of various enzymes
- The infinite variation in our personal microbiome composition
- Variations in nutrients eaten and absorbed
- Differences in detoxification capabilities
So I will continue to do what I can, as one individual, to:
- fight for a model in which the clinician pays attention to the symptoms of the patient seeking care in the context of individual variation in nutritional status, biochemistry, physiology, pathology, socioeconomic status, family circumstances and parental stress
- teach any clinicians I can reach through lecturing, mentoring and writing that our responsibility is to THINK about the whole picture and utilize what we have learned for the benefit of the patients and families who seek our care
- support worthy organizations who utilize emerging science (which includes clinical experience in critical masses) to challenge existing paradigms
- search for effective prevention and management strategies for the current tsunami of chronic illness, of which autism is but one example
Editor’s note: Parents can come to TACA for best practices, research and referrals for professionals who can help evaluate, test and treat issues that affect their children living with autism. Get started here http://www.tacanow.org.
1) Gastrointestinal Symptoms in Autism Spectrum Disorder: A Meta-analysis
William G. Sharp, PhD
Pediatrics Vol. 133 No. 5 May 1, 2014 pp. 872 -883 (doi: 10.1542/peds.2013-3995)
2) AAP Standards of Care https://www.tacanow.org/family-resources/aap-standards-of-care/
For more information on Dr. Mumper please see: http://www.tacanow.org/about-taca/physician-advisory-board/