Autism is a medical disorder

_{(download printable pdf version of this article here)}

Studies and clinical experience have shown that many children on the autistic spectrum have a range of health problems, often concerning the gut and immune system, but involving other areas and body systems as well. These problems are characterized by some people as simply comorbid; that is, they exist independently of the autism. There is absolutely no evidence to indicate that is the case, and growing clinical and research evidence to show the opposite: these serious, often chronic health problems are in fact the cause of what we have chosen to call autism. Furthermore, by treating medical health problems in autism with biomedical interventions, one can often address the root genetic and environmental causes of autistic symptoms.

Autism is defined and diagnosed solely on the basis of symptoms. That is, a paediatrician or other professional will note that the child has failed "to develop peer relationships appropriate to developmental level" (a criterion from the DSM-IV). If a child's symptoms meet enough of these criteria, a diagnosis of autism is given. What has to be understood though is that these 'autistic' behaviours are most often merely surface manifestations of underlying biomedical problems. For example, a very common biomedical problem found in children with autism is a chronic inflammatory state. This chronic inflammation can directly and negatively influence levels of hormones and/or neurotransmitters: they can cause heightened adrenergic/fear responses, fluctuations in levels of serotonin, and increased levels of glutamate (an excitatory neurotransmitter). All of these physical changes will have negative consequences on behaviours, cognitive function, sensory processing abilities, capacity to react to surroundings and ability to communicate.

In just the same way, the cognitive and emotional functions of someone with 'autism' will be affected negatively by physical problems that may not directly involve hormones or neurotransmitters. Many children endure ongoing problems that include constipation or impaction, irritable or painful bowel and other problems related to poor gut function; impaired blood flow to the brain (confirmed in autism through SPECT scans); abnormal glucose metabolism; low cellular energy production, with mitochondrial abnormalities having been confirmed in a large proportion of children and adults with autism; high levels of bacterial toxins circulating the blood (which correlate to severity of autism); impairments/delays in sensory processing; and inability to properly digest food, which results in reduction of available nutrients. Each of these conditions can affect cognitive and emotional function--imagine the children who suffer from all of them. 

While there is currently no universal 'cure' for autism, all of these medical abnormalities are potentially treatable, and when they are successfully addressed their effects on cognitive and emotional function are also addressed. In other words, those surface systems that are the basis of an autism diagnosis diminish, sometimes disappear entirely. 

One of the most disturbing health issues common in ASD is seizures. Latest research shows that one in three children with ASD will develop seizures in childhood or during adolescence. Medical problems such as epilepsy contribute to the fact that there is more than double the risk of early death in individuals with autism compared to healthy population.  

How these medical problems, which can be many and varied, further develop to affect behaviour and learning will vary from child to child, as will effective treatments for them. Addressing identified health needs often has positive effects on what are perceived to be `autistic' behaviours and symptoms. While there is currently no agreed upon medical standard of care for autism that addresses all of these potential medical problems, many children are now improving thanks to biomedical interventions, some so much that they are losing their diagnosis of autism. If one looks at current research carefully, there is no debate:  autism is treatable. Yet, sadly, every one of the hundreds of families that our charity Treating Autism represents believes that children and adults with autism are having their medical problems overlooked or even actively dismissed.  Clearly, whenever this happens, these people are having their human rights violated.

Treating Autism survey on biomedical approach to treating autism

In a survey conducted by Treating Autism of over 200 families using biomedical interventions to treat autism 95% found it beneficial and of those, 24% found it "life changing". Read more on our survey results on our website (on page 3 of Useful Document section).

Perhaps what is most astonishing about these survey results is the fact that parents have had such good outcomes with very little support. Few practitioners are both willing and able to provide biomedical treatments for children with autism. And even those practitioners who are willing are not being provided the support they deserve in the form of sufficient appropriate research. It is not difficult to imagine that with more of the right type of support and treatments, these numbers would be even more astounding.

Many parents have shared those inspiring stories of hope, improvements and even complete recovery from autism with us (see Stories of Hope on treatingautism.co.uk).

But Do Biomedical Treatments for Autism Actually Work?

In spite of evidence that we can provide--survey results, children with 'lifelong disorders' who no longer have them, astounded specialists who have never seen such progress, etc.--we parents are often faced with the mantra that "there is no firm evidence that biomedical treatments for autism work."

That accusation is only partially true. On the one hand there are many very promising smaller-scale and case studies showing that some treatments do have enourmous potential for a large proportion of affected children and adults, resulting in greatly reduced severity of symptoms and improved functioning and quality of life. There are also many documented cases of individuals whose symptoms have improved to such degree that they no longer meet diagnostic criteria of autism. On the other hand there is at this point in time no definite, large, placebo-controlled double-blinded study that establishes beyond doubt that any single biomedical intervention is an effective treatment for everyone affected by autism. Why is this true? And why will it likely be true for a very long time to come? 

There are a few answers to those questions, but one important one is the fact that we cannot define what autism is--or, perhaps more accurately, what 'autisms' really are. Neither can we yes say with certainty what biomedical treatment really means.

'Autism' (or ADHD for that matter), as I argued above, is an artificially constructed, descriptive term. Autism has no substance. It is merely a descriptive term for a collection of observable symptoms. Autism is defined and diagnosed solely by those surface symptoms. Take away those symptoms and this thing-without-substance-called-autism disappears.

And those symptoms are only surface manifestations of some of the body's biology gone awry.

Even if we assume, for the sake of argument, that those body systems are not functioning properly because of faulty genes, there is STILL something dysfunctional on the very basic physiological level that is causing a child to exhibit symptoms of that thing-with-no substance-called-autism.

So let's suppose for a moment that all symptoms of autism are caused by faulty genes, the exact pathology will still differ greatly from child to child. For example, a great majority of monogenetic SLO Syndrome kids exhibit symptoms of autism, but so do most of Timothy Syndrome individuals, and very many PKU kids, and very many Fragile X, most of Retts individuals etc. In those monogenetic disorder individuals their symptoms of autism are not caused by the (dys)functioning of the same gene--in fact these disorders all involve different genes. Nor are the same downstream pathways involved of fundamental relevance.  Given that the autism of these children is the result of different genes and different downstream pathways, we would certainly not attempt to address their autism in the same way!

For example SLOS is a monogenetic disorder of dysregulated cholesterol metabolism and membrane caveolin signalling. The affected children are very sick and the great majority of them also have autism (as well as gastrointestinal and immune dysfunction). There is lots anecdotal evidence that SLOS children, when treated with supplemental cholesterol, also lose their autism symptoms. In this case supplemental cholesterol IS their biomedical Intervention for autism. Or, to put it more accurately, supplemental cholesterol is the biomedical intervention for their dysregulated cholesterol metabolism, and at the same stroke it can end the symptoms of autism. (And let's be reminded, once again, that there is nothing to ANY autism apart from the surface symptoms. The thing is without substance or dimension.

Timothy Syndrome is a result of a monogenetic mutation affecting calcium trafficking via cell membrane. The great majority of those affected also have autism. There is good reason to believe (some promising research in this area) that blocking calcium channels, or correcting some of the downstream pathways that are thrown out of balance due to dysfunctioning of those calcium channels, might work towards reducing autism symptoms in these cases.

Now to the point: if we were to design a study to test whether cholesterol supplementation improves symptoms of autism, should we include Timothy syndrome kids alongside SLO kids? Would you also throw some Rett's and Fragile X kids into the mix? Similarly, if calcium blockers are shown to treat autism in Timothy syndrome individuals, would you automatically assume that it will work the same way for autism in kids with Fragile X?

There is every reason to believe that 'idiopathic' autism (that is, autism from unknown causes, not the types I have mentioned above) is a mixture of genetic susceptibility to a variety of environmental insults. This means that the exact pathology will be different in each case--in other words, although children with autism share symptoms (otherwise they would not be labelled autistic) they may have arrived there by a great many different paths. This is no doubt why some children are so severely affected and others not. The best we can hope for at the moment is to get a clearer idea of different 'subgroups' of autism, and to get clear biomarkers for those subgroups. Some will be overlapping and fluctuating, no doubt, which is exactly why we need to do the research. Only then it will become possible to design meaningful treatment studies that can 'prove' anything beyond doubt.

Having said that, while there is little we know little about exact pathology and how it differs between individuals, what we DO know is that there is lots and lots that is medically very abnormal in our children There are plenty of good quality studies providing evidence of a whole-body, systemic disease process in autism (references below.

Perhaps just as importantly, we know that there are kids who have already recovered.  Studying what changed the health of these children could give us crucial answers to the question of what caused their autism in the first place.  The ongoing study by NIH on recovered children will hopefully be a starting point to addressing this question. But the will to undertake in-depth research has to be more widespread. Autism is a complex medical disorder, likely of many etiologies. It's a simple concept to grasp, but one that medical professionals, researchers, and government officials have been incomprehensibly and inexcusably slow to embrace.

 

Summary of abnormal biomedical findings in autism:

generalised immune dysfunction and inflammation including microgliosis and astrogliosis (inflammation of brain microglia and astrocytes) and raised inflammation in the CSF, vascular endothelial inflammation, abnormal vasoconstriction and permeability, reduced blood flow to brain, oxidative stress, systemic glutathione depletion, mitochondrial dysfunction, autoimmune reactivity, mast cell activation, cardiovascular abnormalities (raised median diastolic blood pressure, abnormal QRS complex), increased intestinal permeability, microbial translocation (presence of bacterial toxins in the blood), hyperplasia of intestinal epithelial cells, pancreatic enzyme deficiency, disaccharide intolerance and malabsorption, autonomic/vagal stem dysfunction, abnormal cytokine profiles, antibodies to folate receptors, increased presence of polyomaviruses in the brain, incresed bacterial and viral infections, abnormal gene methylation, celebral folate deficiency. 

This website contains a comprehensive summary of research into abnormal biological markers in individuals with autism. The findings are organized under nine headings: Neurological abnormalities; Seizures; Gastrointestinal problems; Neurotransmitter abnormalities; Hormonal abnormalities; Auditory, visual, tactile and oral sensory processing disorders and motor difficulties; Reduced cerebral blood flow and cerebral edema; Abnormality of the immune function and chronic inflammation; Oxidative stress; and Mitochondrial dysfunction.

Summary of biomedical interventions for treating autism

A quick summary of biomedical interventions can be viewed here. For a more detailed exploration of the subject we recommend visiting our Interventions section. We also highly recommend some of the books and videos listed below.

Those and many other books and DVDs are available to our members via Treating Autism library loan. (for the full list of our books and DVDs, as well as details on how to join us and start borrowing from our library visit our Membership page)

Further reading

Changing the Course of Autism, by Dr Bryan Jepson

The Myth of Autism, by Dr Micheal Goldberg

Healing the New Childhood Epidemics, by Dr Kenneth Bock

Autism: Effective Biomedical Treatments - Individuality in an Epidemic, by Jon Pangborn PhD and Dr Sidney Baker MD

Special Diets for Special Kids, by Lisa Lewis

The Puzzle of Autism, by Dr Amy Yasko & Dr Garry Gordon

Treating Autism: Parent stories of Hope & Success, by Dr Steve Edelson

Further viewing

Autism Research Institute free online conference webcasts: http://www.autism.com/pro_webcasts.asp

What if this is not autism? Conference webcast by Dr M Goldberg at Tarzana Medical Centre http://tinyurl.com/7sqadj3

The Immune System & Autism interview with T Theoharides MD PhD http://autismmedia.org/media3.html

AutismRecoveryVideos.org www.recoveryvideos.com

References

Concurrent medical conditions and health care use and needs among children with learning and behavioral developmental disabilities. Schieve LA et al, Centers for Disease Control and Prevention (2012) National Health Interview Survey, 2006-2010; Research in Developmental Disabilities 33 (2012) 467-476

Treating Autism  members survey  on parents' experiences (download from page 3 of our 'useful documents' section or write to request a copy of results mail@treatingautism.co.uk)

Nutritional and metabolic status of children with autism vs. neurotypical children, and the association with autism severity. Adams JB et al (2011) Nutrition & Metabolism. 8:34

*************

Genetic Heritability and Shared Environmental Factors Among Twin Pairs With Autism
Hallmayer et al. (2011) Arch Gen Psychiatry; 68: 1095-1102

*************

Neuroglial activation and neuroinflammation in the brain of patients with autism.
Vargas DL et al. (2005). Ann Neurol. 57(1):67-81.

Elevated immune response in the brain of autistic patients.
Li X et al. (Feb 2009) J Neuroimmunol. 207(1-2):111-6.

Aberrant NF-KappaB Expression in Autism Spectrum Condition: A Mechanism for Neuroinflammation.
Young AM at al.  (2011). Front Psychiatry. 2: 27.

IL-6 is increased in the cerebellum of autistic brain and alters neural cell adhesion, migration and synaptic formation.
Wei H et al (2011) J Neuroinflammation.; 8: 52.

A study of nuclear transcription factor-kappa B in childhood autism.
Naik US et al (2011) PLoS One. May 9;6(5):e19488.

Abnormal regional cerebral blood flow in childhood autism.
Ohnishi T (Sep 2000) Brain 123(9):1838-44.

Impaired Carbohydrate Digestion and Transport and Mucosal Dysbiosis in the Intestines of Children with Autism and Gastrointestinal Disturbances. Williams BL et al. (2011) PLoS ONE 6(9): e24585.

Gastrointestinal flora and gastrointestinal status in children with autism -- comparisons to typical children and correlation with autism severity. Adams JB et al. (2011) BMC Gastroenterol.2011 Mar 16;11:22.

Intestinal disaccharidase activity in patients with autism: effect of age, gender, and intestinal inflammation. Autism.
Kushak RI et al (2011) May; 15(3):285-94. BMC Gastroenterology, 11:22 

Intestinal lymphocyte populations in children with regressive autism: evidence for extensive mucosal immunopathology.
Ashwood P et al. (2003). J Clin Immunol. 23(6):504-17.

Abnormal intestinal permeability in children with autism.
D'Eufemia P et al. (1996). Acta Paediatr. 85(9):1076-9.

Gastrointestinal abnormalities in children with autistic disorder.
Horvath K et al (1999). J Pediatr. 1999 Nov;135(5):559-63.

Colonic CD8 and gamma delta T-cell infiltration with epithelial damage in children with autism.
Furlano RI et al (2001). J Pediatr.138(3):366-72.

Urinary Metabolic Phenotyping Differentiates Children with Autism from Their Unaffected Siblings and Age-Matched Controls
J Nicholoson J et al. (2010) ournal of Proteome Research

Metabolic biomarkers of increased oxidative stress and impaired methylation capacity in children with autism.
James SJ et al. (2004). Am J Clin Nutr. 80(6):1611-7.

Altered vascular phenotype in autism: correlation with oxidative stress.
Yao Y et al. (2006). Arch Neurol. 63(8):1161-4.

Brain region-specific changes in oxidative stress and neurotrophin levels in autism spectrum disorders (ASD).
Sajdel-Sulkowska EM  et al. (2011) Cerebellum. Mar;10(1):43-8.

Brain region-specific deficit in mitochondrial electron transport chain complexes in children with autism.
Chauhan A et al. (2011) J Neurochem. 117(2):209-20.

Oxidative stress in autism Pathophysiology.
Chauhan A,  (2006) 13(3):171-81.

Noradrenergic Moderation of Working Memory Impairments in Adults with Autism Spectrum Disorder.
Bodner KE et al.  (2012) J Int Neuropsychol Soc. Mar 14:1-9.

Plasma antioxidant capacity is reduced in Asperger syndrome.
Parellada M et al. (2012) J Psychiatr Res. 2012 Mar;46(3):394-401. Epub 2012 Jan 4.

Low-grade endotoxemia in patients with severe autism.
Emanuele E et al. (2010). Neurosci Lett. 471(3):162-5.

Innate immunity associated with inflammatory responses and cytokine production against common dietary proteins in patients with autism spectrum disorder. Jyonouchi H  et al. (2002) Neuropsychobiology; 46(2):76-84.

Reduced cardiac parasympathetic activity in children with autism.
Ming X et al. (2005). Brain Dev. 27(7):509-16.

Ferritin and iron levels in children with autistic disorder.
Hergüner S et al.  (2011) Eur J Pediatr. Jun 4. [

Folate receptor autoimmunity and cerebral folate deficiency in low-functioning autism with neurological deficits. Ramaekers VT et al. (2007) Neuropediatrics 38(6):276-81.

Cerebral folate receptor autoimmunity in autism spectrum disorders.
Frye RE et al (2012) Molecular Psychiatry. Molecular Psychiatry advance online publication 10 January 2012

Increased serum levels of glutamate in adult patients with autism.
Shinohe et al. (2006). Prog Neuropsychopharmacol Biol Psychiatry 30(8):1472-7. 

Altered calcium homeostasis in autism-spectrum disorders: evidence from biochemical and genetic studies of the mitochondrial aspartate/glutamate carrier AGC1. Palmieri L et al. (2010). Mol Psychiatry 15(1):38-52.

Postmortem brain abnormalities of the glutamate neurotransmitter system in autism.
Purcell AE et al. (2001). Neurology 57(9):1618-28.

Association of autism with polyomavirus infection in postmortem brains.
Lintas C et al. J Neurovirol. 010 Mar;16(2):141-9.

Association between HSV-2 infection and serum anti-rat brain antibodies in patients with autism
Mora M et al. Invest Clin.2009 Sep;50(3):315-26.

Evidence for Mycoplasma ssp., Chlamydia pneunomiae, and human herpes virus-6 coinfections in the blood of patients with autistic spectrum disorders. Nicolson GL et al. J Neurosci Res. 2007 Apr;85(5):1143-8.

Serological association of measles virus and human herpesvirus-6 with brain autoantibodies in autism.
Singh VK et al. Clin Immunol Immunopathol. 1998 Oct;89(1):105-8

Late onset autism and anti-NMDA-receptor encephalitis
The Lancet, Vol 378. Issue 9785, Page 98, 2 July 2011

Mitochondrial DNA and anti-mitochondrial antibodies in serum of autistic children.
Zhang B  et al (2010) J Neuroinflammation. Nov 17;7:80.

Increased serum osteopontin levels in autistic children: Relation to the disease severity.
AL-ayadhia LY et al (2011) Brain, Behaviour and Immunity, first published online April 2011.

The relationship between the increased frequency of serum antineuronal antibodies and the severity of autism in children
Mostafaa et al (2012) Eur J Paediatr Neurol.  Jan 5

A systematic review of two outcomes in autism spectrum disorder - epilepsy and mortality.
Woolfenden S  et al. (2012) Dev Med Child Neurol. Apr;54(4):306-12.

Mortality and causes of death in autism spectrum disorders: An update.
Mouridsen SE (2008) Autism; 12; 403

*************

Effect of a vitamin/mineral supplement on children and adults with autism.
Adams JB. et al. BMC Pediatrics. 2011 Dec 12;11:111.

A prospective double-blind, randomized clinical trial of levocarnitine to treat autism spectrum disorders.
Geier DA et al. (2011) Med Sci Monit. Jun;17(6):PI15-23.

A Randomized Controlled Pilot Trial of Oral N-Acetylcysteine in Children with Autism.
Hardan AY et all (2012) Biol Psychiatry. Feb 17

Omega 3 fatty acid treatment in autism.
Meiri G  et  al. (2009) J Child Adolesc Psychopharmacol. Aug;19(4):449-51.

Role of polyunsaturated fatty acids in the management of Egyptian children with autism.
Meguid NA et al (2008) Clin Biochem. 2008 Jun 12. 

Omega-3 fatty acids supplementation in children with autism: a double-blind randomized, placebo-controlled pilot study.
Amminger GP et al. (2007) Biol Psychiatry. 15;61(4):551-3.

Dysregulated innate immune responses in young children with autism spectrum disorders: their relationship to gastrointestinal symptoms and dietary intervention. Jyonouchi H et al (2005) Neuropsychobiology.;51(2):77-85.

A randomised, controlled study of dietary intervention in autistic syndromes.
Knivsberg AM et a. (2002) Nutr Neurosci. Sep; 5(4):251-61.

Gluten- and casein-free diets for autistic spectrum disorder.
Millward C et al (2004) Cochrane Database Syst Rev. (2):CD003498.

Improvement of neurobehavioral disorders in children supplemented with magnesium-vitamin B6. II. Pervasive developmental disorder-autism. Mousain-Bosc M et al. (2006) Magnes Res. Mar;19(1):53-62.             

Efficacy of methylcobalamin and folinic acid treatment on glutathione redox status in children with autism.
James SJ et al. (2008) Am J Clin Nutr. Dec 3.

Hyperbaric oxygen therapy in Thai autistic children.
Chungpaibulpatana J et a. (2008) J Med Assoc Thai. 2008 Aug;91(8):1232-8.

The effects of hyperbaric oxygen therapy on oxidative stress, inflammation, and symptoms in children with autism: an open-label pilot study. Rossignol DA et al (2007) BMC Pediatrics 2007, 7:3

Pilot study of the effect of methyl B12 treatment on behavioral and biomarker measures in children with autism.
Bertoglio K (2010) J Altern Complement Med May;16(5):555-60.

Effect of propranolol on word fluency in autism.
Beversdorf D et al. (2011) Cogn Behav Neurol. Mar;24(1):11-7.

Open trial effects of beta-blockers on speech and social behaviors in 8 autistic adults.
Ratey JJ et al. (1987) J Autism Dev Disord. Sep;17(3):439-46.

Autism: an emerging 'neuroimmune disorder' in search of therapy.
Theoharides TC (2009) Expert Opin Pharmacother. 2009 Sep;10(13):2127-43.

Novel and emerging treatments for autism spectrum disorders: a systematic review.
Rossignol D (2009) Ann Clin Psychiatry. Oct-Dec;21(4):213-36.

Tetrahydrobiopterin as a novel therapeutic intervention for autism.
Frye RE et al. (2010) Neurotherapeutics. 2010 Jul;7(3):241-9.

Biomarker-guided interventions of clinically relevant conditions associated with autism spectrum disorders and attention deficit hyperactivity disorder Bradstreet JJ et al. Altern Med Rev.  2010 Apr;15(1):15-32.

*************

Identification of Characteristics Associated With Symptom Remission in Autism
NIH study, ongoing http://tinyurl.com/7tf2o4p

Retrospective analysis of clinical records in 38 cases of recovery from autism.
Granpeesheh D et al  (2009) Annals of Clinical Psychiatry;21(4):195204

Eight case reports of learning recovery in children with pervasive developmental disorders after early intervention.
Butter et al. (2006) Behavioral Interventions. 21:227-243.

Residual language deficits in optimal outcome children with a history of autism.
Kelley E et al. J Autism Dev Disorder 2006 Aug;36(6):807-28.

The recovery of a child with autism spectrum disorder through biomedical interventions.
O'Hara NH et al. (2008) Altern Ther Health Med. 2008 Nov-Dec;14(6):42-4.

Autism is a Treatable Medical Condition Kenneth Bock, MD, FAAFP, conference presentation, ARI Oct 2011: http://tinyurl.com/7uqvh9z

 

 

This article was written by a parent who has researched biomedical aspects of autism for seven years. Her son, formerly diagnosed with moderate autism, is now thriving and no longer meets diagnostic critera for autism thanks to biomedical interventions. Thanks to Anita from Treating Autism for editing and suggestions.

 

(download printable pdf version of this article here)