BIOMEDICAL
Children with Autism
are Treatable
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
24 THE AUTISM FILE | www.autismfile.com | info@autismfile.com REPRINTED WITH PERMISSION © THE AUTISM FILE
BY ELIZABETH MUMPER, MD
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 (Valicenti-
McDermott, 2006), metabolic abnormalities
(James, 2004), immune dysregulation with
allergy/autoimmunity (Jyonouchi, 2005)
and detoxification problems (Nataf, 2006).
Successful medical rehabilitation of children
Figure 1: Concepts articulated by Martha Herbert, MD, PHD, pediatric neurologist at Harvard.
The emergence of a new autism model
Older model
Genetically determined
  Environmental triggers
Brain based

Hard-wired
 
Behavioral treatments
 Medical and behavioral
Is autism a
BRAIN DISORDER?
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.
Newer model
 Genetically influenced
 Both brain and body
Metabolic abnormalities

play big role


treatments
Improvements frequent;


some recoveries
OR is it A DISORDER THAT
AFFECTS THE BRAIN?
ISSUE 29 2009
 Vicious Cycles
Food Increased Increased Chronic viral TH1 to TH2
Gut Dysfunctional Environmental and fungal
sensitivities inflammation oxidative enzymes damage toxins shift
Malabsorption stress from toxins infections

Abnormal Abnormal Impaired Increased

intestinal Methylation detoxification Autoimmunity
permeability biochemistry and allergy

Figure 2: Vicious cycles in some children with autism

Central Importance of Methylation/Redox Metabolic Pathways

Methionine
Key
MTHFR = Methylene
THF SAM tetrahydrofolate
reductase
Cellular
5, 10 -ch2 THF 1 MS 2 Methylation
MS = Methionine synthase
SAH Reactions BHMT = Betaine-homocysteine
B12
methyltransferase
5-CH3 THF SAHH SAM = S-adenosyl methionine
Purines and Adenosine
Thymidylate SAH = S-adenosyl
Homocysteine homocysteine
SAHH = S-adenosyl-
DNA SYNTHESIS Cystathionine homocysteine hydrolase
3 CBS = Cystathionine beta
Cysteine synthase
GSH = Glutahione (reduced)
GSH GSSG GSSG = 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
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.

ISSUE 29 2009 REPRINTED WITH PERMISSION © THE AUTISM FILE info@autismfile.com | www.autismfile.com | THE AUTISM FILE 25