Children with Autism ARE TREATABLE by Elizabeth Mumper, MD

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BIOMEDICal
Children with Autism
arE TrEaTaBlE
BY ELIZABETH MUMPER, MD
Dr. Mumper is the Medical Director of the Autism Research Institute and founder of the Rimland Center.
A
t the Rimland Center, we embrace the paradigm shift away from considering autism as a static encephalopathy; the new paradigm conceptualizes autisms as systems disorders affecting multiple biological processes. Such a shift in clinical direction toward detection of medical conditions which are amenable to treatments often leads to improvement in clinical symptoms, including so-called autistic symptoms. In our work, we consider medical problems common in children with autism, including intestinal pathology and gastrointestinal symptoms, allergies and autoimmunity, metabolic abnormalities, oxidative stress and impaired detoxification. As Medical Director of the Clinician Seminars associated with Defeat Autism Now!, I teach a paradigm of systemic involvement (Herbert 2005). See Figure 1. Our approach relies on a unique model of parental collaboration with clinicians and scientists. Reports from parents about their children’s symptoms and responses to treatment are helpful in formulating hypotheses, designing research projects and testing treatment strategies. Our underlying premise is that each autistic child is an individual with unique biochemical, genomic, and medical profiles. This unique approach resulted from abandoning the belief that autism is fixed prenatally and unchangeable after birth in favor of the view that many subsets of autism arise from insults which occur either before or after birth and are potentially treatable. The classic developmental literature documents the value of early intervention (Rogers 1996). Clinical experience in biomedical treatments for children with autism suggests an inherent value to beginning interventions as soon as possible after diagnosis. Numerous studies have failed in the
quest to elucidate a specific genetic cause for autism (Rimland 2000; Herbert 2005). Therefore, we suggest considering an environmental trigger or triggers combined with a genetic susceptibility during vulnerable periods of development. Retrospective, objective reviews of home videos have confirmed developmental regressions as reported by parents (Werner and Dawson 2005). Vicious cycles identified in children with autism include: intestinal inflammation (Torrente, 2002), GI symptoms (ValicentiMcDermott, 2006), metabolic abnormalities (James, 2004), immune dysregulation with allergy/autoimmunity (Jyonouchi, 2005) and detoxification problems (Nataf, 2006). Successful medical rehabilitation of children
with autism usually requires attention to all four of these areas in addition to behavioral and educational strategies. See Figure 2. At the Rimland Center, we have a preference for avoiding atypical antipsychotic medications if possible and see significant improvements with nutritional, metabolic, immunomodulatory and detoxification strategies. We are heavily influenced by research at Hopkins that documents neuroinflammation with microglial activation in children with autism (Vargas, 2005). In the next issue, I will review the medical literature which further documents gastrointestinal, metabolic (see Figure 3), immune, detoxification and neuroinflammatory abnormalities in children with autism.
Figure 1: Concepts articulated by Martha Herbert, MD, PHD, pediatric neurologist at Harvard.
The emergence of a new autism model
Older model
 Genetically determined  Brain based  Hard-wired  Behavioral treatments
Is autism a BRAIN DISORDER?
Newer model
 Environmental triggers  Genetically influenced  Both brain and body  etabolic abnormalities M play ig role b  edical and behavioral M treatments  Improvements frequent; some recoveries
OR is it A DISORDER THAT AFFECTS THE BRAIN?
REPRINTED WITH PERMISSION © THE AUTISM FILE ISSUE 29 2009
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Vicious Cycles
Food sensitivities Malabsorption Gut inflammation Increased oxidative stress Dysfunctional enzymes Increased damage from toxins Environmental toxins Chronic viral and fungal infections TH1 to TH2 shift
Abnormal intestinal permeability
Abnormal Methylation biochemistry
Impaired detoxification
Increased Autoimmunity and allergy
Figure 2: Vicious cycles in some children with autism
Central Importance of Methylation/Redox Metabolic Pathways
Methionine THF 5, 10 -ch2 THF 1 5-CH3 THF MS B12 Purines and Thymidylate DNa SYNTHESIS 3 SaHH Homocysteine Cystathionine Cysteine GSH GSSG 2 SaH SaM Cellular Methylation reactions adenosine
Key MTHFR = Methylene tetrahydrofolate reductase MS = Methionine synthase BHMT = Betaine-homocysteine methyltransferase SAM SAH SAHH CBS GSH GSSG = S-adenosyl methionine = S-adenosyl homocysteine = S-adenosylhomocysteine hydrolase = Cystathionine beta synthase = Glutahione (reduced) = Oxidized glutathione
Figure 3: Methylation and transulfuration: a crucial biochemical crossroads which regulations gene expression and synthesis of neurotransmitters. Concept credited to Dr. S. Jill James.
Conflict of Interest Declaration Dr. Mumper has received lecture honoraria and administrative funding from the Autism Research Institute. Dr. Mumper has received research funding from the Autism Research Institute, the International Hyperbarics Institute and a private donor. She is a named expert in pending vaccine litigation. References
Herbert, M. R. (2005). “Large brains in autism: the challenge of pervasive abnormality.” Neuroscientist 11(5): 417-40. Herbert, M. R., J. P. Russo, et al. (2006). “Autism and environmental genomics.” Neurotoxicology 27(5): 671-84. James, S. J., P. Cutler, et al. (2004). “Metabolic biomarkers of increased oxidative stress and impaired methylation capacity in children with autism.” Am J Clin Nutr 80(6): 1611-7. Jyonouchi, H., L. Geng, et al. (2005). “Dysregulated innate immune responses in young children with autism spectrum disorders: their relationship to
ISSUE 29 2009
gastrointestinal symptoms and dietary intervention.” Neuropsychobiology 51(2): 77-85. Nataf, R., C. Skorupka, et al. (2006). “Porphyrinuria in childhood autistic disorder: implications for environmental toxicity.” Toxicol Appl Pharmacol 214(2): 99-108. Rimland, B. (2000). “Secretin treatment for autism.” N Engl J Med 342(16): 1216-7; author reply 1218. Rogers, S. J. (1996). “Brief report: early intervention in autism.” J Autism Dev Disord 26(2): 243-6. Torrente, F., P. Ashwood, et al. (2002). “Small intestinal enteropathy with epithelial IgG and complement deposition in children with regressive
autism.” Mol Psychiatry 7(4): 375-82, 334. Valicenti-McDermott, M., K. McVicar, et al. (2006). “Frequency of gastrointestinal symptoms in children with autistic spectrum disorders and association with family history of autoimmune disease.” J Dev Behav Pediatr 27(2 Suppl): S128-36. Vargas, D. L., C. Nascimbene, et al. (2005). “Neuroglial activation and neuroinflammation in the brain of patients with autism.” Ann Neurol 57(1): 67-81. Werner, E. and G. Dawson (2005). “Validation of the phenomenon of autistic regression using home videotapes.” Arch Gen Psychiatry 62(8): 889-95.
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