In California, where incidence is the highest, 1 in 26 8-year-olds has a diagnosis of autism. Missouri, which has the lowest incidence, has a rate of 1 in 60. According to the U.S. Centers for Disease Control and Prevention, the dramatic uptick is in part due to improved and more comprehensive identification and diagnosis.
Mitochondrial Dysfunction in AutismAccording to an October 2020 scientific review in the journal Seminars in Pediatric Neurology, “Several lines of evidence implicate mitochondria in the pathophysiology of autism spectrum disorder (ASD).” For years, autism was believed to be due to genetics, but empirical studies have proven genetic predispositions play a very small role.
More recent investigations looking at mitochondrial biomarkers and electron transport chain activity suggest mitochondrial abnormalities may be involved in as many as 80% of cases.
The authors point to “novel abnormalities” in mitochondrial function that have been found in autistic children, and the fact that treatments targeting mitochondrial dysfunction, such as L-carnitine supplementation and a ketogenic diet, have been fruitful.
- Carnitine (low levels being an indication of dysfunction)
- Creatine kinase
- Gastrointestinal disorders
- Seizures and/or epilepsy
- Motor delay and/or ataxia and/or muscle weakness
- Unusual neurodevelopmental regression, including multiple regressions or regression later than commonly associated with ASD
Mitochondrial OveractivityWhile classic mitochondrial disease is defined, at least in part, by severe deficits in electron transport chain activity, in children with ASD, mitochondrial dysfunction tends to involve overactivity. According to the authors:
“... we have shown that about one-third of LCLs [lymphoblastoid cell lines] derived from children with ASD repeatedly show elevated respiratoryiou rates, approximately 200% of controls, for respiratory parameters associated with adenosine triphosphate production.
We have also demonstrated the consequences of elevated respiratory rates; specifically, this subset of ASD LCLs are more sensitive to acute exposure to reactive oxygen species (ROS) such that respiratory rates drop precipitously with acute increases in ROS.
We hypothesized these changes represent an adaptive response to previous environmental exposures, a phenomenon known as mitoplasticity.
To support this hypothesis, we demonstrated that elevated respiratory rates can be induced in LCLs with prolonged exposure (96 hours) to mild ROS, a microenvironment that simulates the effect of environmental toxicants on mitochondria.
Additionally, we have demonstrated that this subset of LCLs respond differently to environmental agents associated with ASD, including trichloroacetaldehyde hydrate and ethylmercury, and enteric short chain fatty acids propionate and butyrate, as compared to ASD LCLs which do not demonstrate these high respiratory rates at baseline.”
Important Nutritional SupplementsTwo helpful treatments have already been mentioned: L-carnitine supplementation and ketogenic diets. Studies evaluating ketogenic diets and ASD have found them to be well-tolerated by a majority of children.
- B vitamins, including niacin (B3), riboflavin (B2), biotin (B7), thiamine (B1), pyridoxine (B6), pantothenic acid (B5), methylcobalamin (B12), reduced folate (B9)
- L-carnitine or acetyl-L-carnitine
- Alpha-lipoic acid
- Vitamin C
- Coenzyme Q10 or the reduced form, ubiquinol
- Creatine monohydrate
- Vitamin E
- N-acetyl-L-cysteine (NAC)
Benefits of L-Carnitine and CoQ10Of these, L-carnitine has been most widely studied. As explained in this paper:
“Two medium sized (n = 30, 30) double-blind placebo-controlled studies using L-carnitine treatment (50 mg/kg/d for 3 months and 100 mg/kg/d for 6 months) found that scores on the Childhood Autism Rating Scale (CARS) improved with L-carnitine as compared to placebo with one study finding that greater symptomatic improvement was correlated with a greater increase in blood carnitine levels.
A small (n = 10) 8-week open-label trial of L-carnitine used particularly high doses (up to 400 mg/kg/d in 3 divided doses, maximum of 6000 mg/d) ...
Several parental rated measures showed improvements in behavior and hyperactivity before correction for multiple comparisons and improvements in language correlated with post-treatment blood carnitine levels. Children with ASD and genetic mutations in the carnitine pathway also appear to response to L-carnitine.”CoQ10 has also been evaluated in clinical trials. In one, 50 mg of ubiquinol was given twice a day for three months. Children who attained a CoQ10 blood level above 2.5 umol/L saw improvements in communication, interactions, sleep and food rejection.10
Autism and AutoimmunityPrevious research also suggests ASD may have an autoimmunity component. As explained in a 2009 paper titled “Autoimmunity in Autism”:
“Increasing evidence of autoimmune phenomena in individuals with autism could represent the presence of altered or inappropriate immune responses in this disorder, and this immune system dysfunction may represent novel targets for treatment.
Furthermore, in recent studies, antibodies directed against the fetal brain have been detected in some mothers of children with autism; these antibodies have the ability to alter behavioral outcomes in the offspring of animal models.”Research published in 2013 found that more than 1 in 10 mothers of autistic children had antibodies associated with autoimmunity that adversely reacted with proteins in the brain of the baby, resulting in ASD. The authors point out that any activation of the mother’s immune system “might lead to an increased risk of a child with ASD.”
Toxic Chemicals Implicated in AutismNot surprisingly, exposure to toxic chemicals in utero has also been identified as a potentially causative factor. According to the National Academy of Sciences, an estimated 3% of all neurobehavioral disorders in children are caused by toxic exposures.
“When they looked at diagnoses of autism spectrum disorder that also came with intellectual disabilities, they found on average 30% higher rates among children who were exposed to the pesticides while in utero. Exposure in the first year of life increased the risk of autism by up to 50% compared to those not exposed to certain pesticides.”
Glyphosate Is Likely a Key CulpritStephanie Seneff, Ph.D., who has spent a large portion of her career studying glyphosate, believes it is a significant cause or contributor to autism. She’s shown glyphosate:
- Disrupts your gut microbiome
- Impairs peristalsis — a feature that is exceedingly common in children with autism
- Inhibits bile acid release by impairing gallbladder contraction — Many autistic children have very pale stool, suggestive of low bile acid levels
- Impairs digestive enzymes — Many autistic children also have undigested particles in their stool, which suggests a lack of digestive enzymes. And, indeed, glyphosate affects your digestive enzymes, particularly trypsin, pepsin and lipase
The Roles of GI Inflammation and Maternal Gut BacteriaAnother potential trigger is maternal gut inflammation. Research published in early December 2021 found that when pregnant mice were challenged with immune activation, it changed their gut microbiota. This altered microbiota in turn primed the offspring for intestinal inflammation that resulted in neurodevelopmental disorders. MIT News reported the findings, noting:
“Infection during pregnancy with elevated levels of the cytokine IL-17a may yield microbiome alterations that prime offspring for aberrant immune responses ...
When a mother experiences an infection during pregnancy and her immune system produces elevated levels of the molecule Interleukin-17a (IL-17a), this can not only alter brain development in her fetus, but also alter her microbiome such that after birth the newborn’s immune system can become primed for future inflammatory attacks.
In four studies beginning in 2016,24 study co-senior authors Gloria Choi of MIT and Jun Huhof Harvard University traced how elevated IL-17a during pregnancy acts on neural receptors in a specific region of the fetal brain to alter circuit development, leading to autism-like behavioral symptoms in mouse models.
Their new research ... shows how IL-17a can act to also alter the trajectory of immune system development. ‘We’ve shown that IL-17a acting on the fetal brain can induce autism-like behavioral phenotypes such as social deficits,’ says Choi ...
‘Now we are showing that the same IL-17a in mothers, through changes in the microbiome community, produces co-morbid symptoms such as a primed immune system.’
The researchers caution that the study findings are yet to be confirmed in humans, but that they do offer a hint that central nervous and immune system problems in individuals with autism-spectrum disorders share an environmental driver: maternal infection during pregnancy.”
Autism Is a Multifactorial ConditionA number of other culprits could also be named, such as retroviruses and electromagnetic field (EMF) exposure. According to Judy Mikovits, Ph.D., a retrovirus family known as xenotropic murine leukemia virus-related viruses (XMRV) may play a causal role in autism.
Disturbingly, one source for XMRVs is contaminated childhood vaccines. Mikovits details the history of this in her book, “Plague: One Scientist’s Intrepid Search for the Truth About Human Retroviruses and Chronic Fatigue Syndrome (ME/CFS), Autism and Other Disease.”
There’s no single answer to this problem. Since many different toxins can contribute, preventing autism must include the elimination of most toxic exposures.
Sources and References
- Autism Society
- National Autism Association
- Yahoo News! December 7, 2021
- Seminars in Pediatric Neurology October 2020; 35: 100829
- Seminars in Pediatric Neurology October 2020; 35: 100829, Table 2
- Curr Opin Investig Drugs May 2009; 10(5): 463-473
- Molecular Psychiatry August 20, 2013; 18: 1171-1177
- Science Daily August 29, 2021
- Environmental Health Perspectives July 1, 2012; 120(7
- Science Daily April 25, 2012
- Journal of Molecular and Genetic Medicine, 2015;9:187
- Medical Sciences, 2018;6(2):29
- BMJ 2019;364:l962
- Time March 20, 2019
- Scientific Reports 9, Article number: 5987 (2019)
- Immunity December 7, 2021 DOI: 10.1016/j.immuni.2021.11.005
- MIT News December 9, 2021
- The Picower Institute
- Autoimmun Rev July 2020; 19(7): 102572
- Biomedicine & Pharmacotherapy October 2021; 142: 111980
- Plague: One Scientist's Intrepid Search for the Truth About Human Retroviruses and Chronic Fatigue Syndrome (ME/CFS), Autism [...], by Judy Mikovits