Autism

“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.”

2010 American Academy of Pediatrics

This page is far from being ready but I gotta start somewhere. I have so much information to put here that it will take me awhile. In the meantime, the information may not seem coherent. But it will tie into the rest of my blog. There’s a large focus on the gut which appears to affect about half of those with ASD (48-84%), and yes, for a few cases, low level chronic carbon monoxide poisoning may be part of the equation. Likewise, the info listed below won’t apply to everyone with ASD (please don’t ever tell someone they can “fix” their kid with a diet).

This page is my response to three mindsets on ASD that I personally disagree with. Most espousing these mindsets will assure you that the research you see below does not exist. There’s been a lot of effort to say “Don’t look there, there’s nothing to see”. Yet here it is. The research won’t apply to everyone, and for whom it does, each response will vary. ASD is complex. Nothing here is medical advice. The research is fascinating, and piling up.

One thought, is that gastrointestinal (GI) issues and certain behaviors are just “part of the autism”. Parents are often told this by doctors. As a result, the individual may have a serious and painful condition that they are forced to live with, untreated. For my son it turned out to be severe gluten intolerance and Crohn’s disease. I was dropped by a pediatrician because I pushed for a referral to a gastroenterologist. The GI doc finally agreed to see us without the referral, fortunately, and my son received his diagnosis. Diet has managed his symptoms and improved his immune system.

To make matters worse, many people with ASD often struggle to communicate. For them, behavior can be the only way to express pain or severe discomfort. (such as head banging, aggressiveness) The behavior is viewed as just part of the autism and not explored further. Additionally, studies have proven a higher incidence of comorbid health issues in those with ASD (such as gi issues, allergies, autoimmunity, neurological disorders, etc). Even if this is “just part of the autism” doesn’t mean people should go without treatment. They have a right to proper medical care just like anyone else. It’s barbaric to think otherwise. There needs to be more research into these comorbidities and how to diagnose and treat them.

Another mindset I disagree with is that treating these comorbidities changes the person with ASD and therefore is morally wrong. Some parents have caught hell for treating their child’s medical issues. Treating medical issues doesn’t change who you are. If you have a painful tooth infection over a period of time, treating that tooth might take away the pain and give you more energy. But it doesn’t change YOU. If anything, energy that was previously zapped by pain and infection is freed for better use. True, often, better health means better brain function, but you still are who you are. And you deserve to be healthy, and not have health issues limit your freedom of choice in living your life. Especially painful/fatiguing health issues.

Note: I would add the majority of us in the “developed” world have brains and bodies that aren’t meeting their full potential due to our industrial food methods (see here).

The third mindset is that “it’s a gene”. The word “gene” is code for “it is written in stone”. You hear this word thrown around a lot in autism and autoimmunity. It runs in my family, therefore it’s genetic, cemented into my very being. While some genes appear to work that way, the field of epigenetics is teasing out that in many cases the gene contains a susceptibility that is reacting to the environment. And many times the environment can be changed, resulting in improved quality of life. (again, see my food page). Plus learning and therapy work better when you are not in discomfort from health issues, allowing your brain to access your strengths.

Apples fall from apple trees. My mom, brother, and son are all on the autism spectrum. My 1972 kindergarten report card notes issues with eye contact and shyness would have flagged me today as possibly being on the spectrum. I love my brain type and would never change it. Yet, I have the burden of the comorbidities and susceptibilities that come with my genes, and my quality of life can really suffer. When I am at my healthiest, my brain is fantastic and I enjoy life. I often say I would be dangerous if I had energy.

This page is put here in hopes that it can help others with similar issues. In fact, this entire website is devoted to that. I believe many of the same health issues behind ASD comorbidities are also driving the surge in autoimmunity, chronic inflammation, and mental health struggles.

I’ll admit some of the research is over my head. If you find this is also the case for you, here’s a tip for reading medical journal articles: Read the opening paragraphs (called an abstract) and then scroll down to the “discussion”. These two sections will summarize the article for you. The body in-between is where the technical science is discussed.

Current Studies

GEMMA Study at Massachusetts General for Children. GEMMA stands for Genome, Environment, Microbiome and Metabolome in Autism and enrolls infants who have a first-degree relative with autism spectrum disorder.

The CHIRP™ Study: Child Health Inventory for Resilience and Prevention. This study seeks to better understand the impact of the totality of modern living on children’s health.

Autism and GI Issues

Links added 9/8/2023

Gastrointestinal Symptoms in Autism Spectrum Disorder: A Meta-analysis. By the American Academy of Pediatrics. (2014)”Children with ASD experience significantly more general GI symptoms than comparison groups”. The comment below the abstract is worth the read.

Video: Gut-Brain Interaction in Autism: What Language Do They Speak, and Do They Understand Each Other? (2013/2014) Dr. Alessio Fasano

Dietary Considerations in Autism Spectrum Disorders: The Potential Role of Protein Digestion and Microbial Putrefaction in the Gut-Brain Axis. (2018) “A potential consequence of this pattern of conditions is that the fragile gut of some children with ASD is at risk for GI symptoms that may be amenable to improvement with specific dietary changes. There is growing evidence that shows an association between gut dysfunction and dysbiosis and ASD symptoms.”

Gluten Sensitivities Suspected Role in Autism (2012) “…Fasano reviewed small studies of gluten’s association with autism and keenly observed his own patients for patterns. This led him to the preliminary observation that a gluten-free diet may help about 20 per cent of the children with autism spectrum disorder or ASD.”

Impaired carbohydrate digestion and transport and mucosal dysbiosis in the intestines of children with autism and gastrointestinal disturbances. (2011) “Ileal transcripts encoding disaccharidases and hexose transporters were deficient in children with autism, indicating impairment of the primary pathway for carbohydrate digestion and transport in enterocytes.”

Association between autism spectrum disorder and inflammatory bowel disease: A systematic review and meta-analysis. (2022) “This systematic review and meta-analysis of eight observational datasets found that individuals with autism spectrum disorder (ASD) are more likely to develop any inflammatory bowel disease, ulcerative colitis, or Crohn’s disease”

Exploring the molecular mechanism of comorbidity of autism spectrum disorder and inflammatory bowel disease by combining multiple data sets. (2023) “This research reveals the shared pathogenesis of ASD and IBD”

Markers of Celiac Disease and Gluten Sensitivity in Children with Autism. (2013) “A subset of children with autism displays increased immune reactivity to gluten, the mechanism of which appears to be distinct from that in celiac disease. “

Intestinal disaccharidase activity in patients with autism: effect of age, gender, and intestinal inflammation. (2011) “Lactase deficiency not associated with intestinal inflammation or injury is common in autistic children and may contribute to abdominal discomfort, pain and observed aberrant behavior.”

Serum Zonulin Levels Are Higher Among Children with Autism Spectrum Disorders and Correlated with Social Impairment. (2021) “The positive correlation between serum zonulin levels and ASD severity may require precaution for impaired intestinal permeability in clinical practice”

Autism and Microbiome

(Links Added 9/21/2023)

A quasi-paired cohort strategy reveals the impaired detoxifying function of microbes in the gut of autistic children. (2020) “…eight were significantly deficient in ASD and participated in the degradation of a wide range of toxicants, including chloroalkane/chloroalkene, aminobenzoate, benzamide, styrene, naphthalene, xylene, and benzoate. These toxicants are widely used as insecticides and food additives. The deficiency in these critical enzymes suggests a wider range of impairment in detoxification in ASD”

Differential immune responses and microbiota profiles in children with autism spectrum disorders and co-morbid gastrointestinal symptoms. (2018)” children with ASD^GI produced elevated levels of mucosa relevant cytokines, including IL-5, IL15 and IL-17, after exposure to the TLR-4 agonist LPS when compared to children with ASD^NoGI.” (LPS is an exdotoxin produced by gram negative gut bacteria). ” preliminary data suggest a possible relationship between the microbiome, immune system and behavioral outcome in ASD.”

Alterations in Gut Vitamin and Amino Acid Metabolism are Associated with Symptoms and Neurodevelopment in Children with Autism Spectrum Disorder. (2021) “This study showed that gut metabolomic profiles significantly differed between young children with ASD and TD children. …mainly involved in vitamin and amino acid metabolism pathways, with the strongest enrichment identified for tryptophan metabolism, retinol metabolism, cysteine and methionine metabolism, and vitamin digestion and absorption. … and may contribute to the pathogenesis of ASD through the gut-brain axis.”

Autism, Gastrointestinal Symptoms and Modulation of Gut Microbiota by Nutritional Interventions. (2019) “Gut microbiome is able to communicate with brain activities through microbiota-derived signaling molecules, immune mediators, gut hormones as well as vagal and spinal afferent neurons. Since the diet induces changes in the intestinal microbiota and in the production of molecules, such as the SCFA, we wanted to investigate the role that nutritional intervention can have on GI microbiota composition and thus on its influence on behavior, GI symptoms and microbiota composition and report which are the beneficial effect on ASD conditions.”

Microbiota-related Changes in Bile Acid & Tryptophan Metabolism are Associated with Gastrointestinal Dysfunction in a Mouse Model of Autism. (2017) “Similar to human ASD, BTBR mice have “leaky” intestinal epithelium and delayed intestinal transit. We further identify deficient bacterial transformation of bile moieties and impaired tryptophan metabolism in the BTBR intestine as potential mechanisms underlying GI symptoms in these animals. Taking advantage of microbiota sequencing and physiological data, we associate these functional changes with a reduction in the relative abundance of Bifidobacterium and Blautia bacteria in the BTBR microbiota.”

MicrobialInfluence.com: This site is almost a couple of decades old but a tremendous source of research on the role of lipopolysaccharides (LPS) in various health conditions including autism. While the occasional link that doesn’t work, most links are to medical journals in PubMed. For some reason, all pages in MicrobialInfluence.com must be accesses individually. Here are the topics: Allergy, Ammonia, Anorexia, Arthritis, Autism, Autoimmunity, Behavior, Biofilms, Brain, Candida, Candida 2, Carbohydrates, Carbohydrates 2, Chronic Fatigue, Colon Cancer, Copper/Zinc, Detox, Digestion, Diet, Diet 2, Fat Malabsorption, Glutathione, Heavy Metals, Hypoglycemia, Inflammation, Kidneys, Leaky Gut, MS, Liver, NF-κB (nuclear factor-kappa B), Oxalates, Oxidative Stress, Thyroid, Thyroid 2

All in the Family

Alterations of the intestinal barrier in patients with autism spectrum disorders and in their first-degree relatives. “The results obtained support the leaky gut hypothesis and indicate that measuring IPT could help to identify a subgroup of patients with autism who could benefit from a gluten-free diet. The IPT alterations found in first-degree relatives suggest the presence of an intestinal (tight-junction linked) hereditary factor in the families of subjects with autism.”

Proband and Familial Autoimmune Diseases Are Associated With Proband Diagnosis of Autism Spectrum Disorders. (2019) “odds for ASD diagnosis among those with an AD (Autoimmune Disease) diagnosis themselves, or with first-degree relatives with an AD diagnosis”

Parental inflammatory bowel disease and autism in children. (2022) “triangulating evidence from a nationwide register-based cohort study, genetic correlation, PRS analyses, and MR, we found evidence suggesting associations between parental, particularly maternal, diagnoses of IBD, and autism in children. Links between maternal genetic liability to IBD and autism in children may reflect the influence of the maternal genotype on the prenatal/intrauterine environment”

Familial autoimmune thyroid disease as a risk factor for regression in children with Autism Spectrum Disorder: a CPEA Study.(2006) “Regression was significantly associated with a family history of autoimmune disorders. The only specific autoimmune disorder found to be associated with regression was autoimmune thyroid disease”

Maternal Thyroid Autoantibody and Elevated Risk of Autism in a National Birth Cohort. (2014) “The prevalence of maternal TPO-Ab+ (thyroid antibodies) was significantly increased in pregnancies giving rise to autism cases (6.15%) compared to controls (3.54%). The odds of autism were increased by nearly 80% among offspring of mothers who were TPO-Ab+ during pregnancy”

Miscellaneous

Blog: Questioning Answers. “News and views on autism research and other musings. Sometimes uncomfortable but rooted in peer-reviewed scientific research”. A blog by autism researcher Paul Whiteley Ph.D.

Thyroid dysfunction in children with autism spectrum disorder is associated with folate receptor α autoimmune disorder. (2017) “Folate receptor α (FRα) autoantibodies (FRAAs) are prevalent in autism spectrum disorder (ASD). FRAAs disrupt folate transport across the blood-brain barrier by binding to the FRα. Thyroid dysfunction is frequently found in children with ASD.”

Improving motor skills and psychosocial behaviors in children with autism spectrum disorder through an adapted judo program. (2022) “participation in an adapted judo program clearly helps to improve the motor skills and psychosocial behaviors of children with ASD.”

VIDEO: How Many Questions Can You Answer? Too Much Information Campaign from National Autistic Society. See also: Too Much Information