Researcher in Developmental & Behavioral Neuroanatomy
October 02, 2009
Newly published findings renew concern
for children who had mitochondrial pathology at the time of a
vaccination. The carefully designed study found that some such children
regressed into autism.
Titled "Fever Plus Mitochondrial Disease Could Be Risk Factors for
Autistic Regression", the study reports associations among fever,
mitochondrial profiles, vaccination, and autistic regression (1).
These findings augment insights from Hannah Poling, who had
mitochondria pathology markers and who regressed after a
multiple-vaccinations incident (2-3). Importantly, Hannah and her
mother have a specific mitochondrial genetic marker, even as her mother
remains a high-achieving, well-spoken, non-autistic individual.
Apparently, the mitochondria variant shared by mother and daughter was
insufficient to induce autism in the absence of a sufficient
environmental trigger which, for Hannah, was her being injected with
five vaccines in one day.
The new study by Black et al is oriented towards classically defined mitochondrial disease and
focused upon autistic children with thoroughly evaluated mitochondria
issues. Importantly, the researchers mention that many children are
never evaluated for markers of mitochondria pathology, which can be
difficult to ascertain (1).
In contrast, non-classical mitochondria
dysfunction (MtD) is not necessarily genetic in origin but has
signs and symptoms very similar to those of classic mitochondrial
disease. MtD is elaborated in a free-online, clinician-oriented review
by autism specialists Jeffrey Bradstreet, M.D., and Dan Rossignol, M.D.
(4) These experienced clinicians delineate differences between and
similarities of classic mitochondria disease and mitochondria
dysfunction. Their review offers an important point: "Biomarkers for
mitochondrial dysfunction have been identified, but seem widely
under-utilized despite available therapeutic interventions." (4)
As Black et al discuss their own findings (1), their rhetoric seems to
imply that fever in the context of
mitochondrial disease was crucial for the vaccination-related
regressions. However, as cited below, if an anti-pyrogen such as
acetaminophen (Tylenol) was given somewhat concurrently to the
vaccination that caused regression, then glutathione depletion and/or
fever suppression may have been etiologic co-factors in the children
who regressed. In other words, was the association among fever,
vaccination, and regression into autism dependent upon treatment of the
fever (in the context of mitochondria-related suboptimality)?
Due to the new findings' importance, we repeat: among the autistic
children who regressed into autism, fever and vaccination together were
more significant than was vaccination without fever (1). This finding
and the way it's worded in the study prompt concern for anti-pyrogens
such such as Tylenol, which utilizes and may deplete glutathione (5-8).
Such studies subserve a question: Were the closely watched children
given Tylenol or some other fever-reducing remedy?
Concern regarding treatment of fever is warranted because Tylenol
diminishes glutathione (eg, 9), which is suboptimal in many autistic
children (10-20) and which helps detoxify thimerosal (21-23).
Problematically, thimerosal inhibits a glutathione transferase (24);
and, not surprisingly, thimerosal injections of infants are associated,
among boys, with increased rates of special education services and with
But lets return to the important new study by Black et al (1), paying
close attention to the role of fever and possibly the role of
anti-pyrogens such as Tylenol, which has been linked with autism (eg,
27-29). Here are several excerpts:
"In this pilot study, autistic regression was identified in
60.7% (17 of 28) of the study participants representing a statistically
significant increase over the estimated 25% reported in the general
population of autistic spectrum disorders patients (w2, P < .0001;
Table 2). Autistic regression was not identified in 39.3% (11 of 28).
The 17 individuals with autistic regression could be divided into 2
groups, those who regressed with fever (70.6%, 12 of 17) and those who
regressed without identifiable linkage to fever or vaccinations (29.4%,
5 of 17). Autistic regression and fever was not associated with
vaccination in 8 of 12 (66.7%) and was associated with a febrile
response to vaccination in 4 of 12 (33.3%). Information about the
precise vaccine schedule associated with a febrile response was not
available. No individual showed regression with vaccination unless a
febrile response was present." (1)
The Black et al paper (1) ought prompt additional studies with similar
focus, larger numbers - and, we hope, future studies will include data
regarding Tylenol and other anti-pyretics.
In the following excerpts, notice how the description of mitochondrial
disease offered by Black et al is akin to the concept "mitochondrial
dysfunction" offered by Rossignol & Bradstreet:
"The clinical suspicion of mitochondrial disease in autistic
spectrum disorders is increased when patients have additional clinical
features that include hypotonia and motor delay, fatigue with activity,
metabolic abnormalities, poor growth, epilepsy, and affected siblings.
Increases in metabolites such as lactate, pyruvate, and alanine in
blood, urine, or cerebrospinal fluid can be important findings that
support a diagnosis of mitochondrial disease. However, metabolic
testing is often normal in mitochondrial disease, even in patients with
severe disorders.... Although hypotonia, motor developmental delay, and
fatigue are observed, the muscle histology shows only nonspecific
changes. This finding is consistent with routine histopathologic
assessments of most patients with mitochondrial disease who rarely have
diagnostic features such as cytochrome c oxidase-deficient fibers and
ragged-red fibers." (1)
"The biochemical heterogeneity observed in the autistic
spectrum disorder group is similar to the biochemical heterogeneity
observed in other groups of patients with mitochondrial disease.
Diagnosis of mitochondrial disease is complex, requiring a multifaceted
and well-coordinated clinical and laboratory approach. In most
individuals, no single test is sufficient for the diagnosis of
mitochondrial disease." (1)
"Classical mitochondrial diseases occur in a subset of
individuals with autism and are usually caused by genetic anomalies or
mitochondrial respiratory pathway deficits. However, in many cases of
autism, there is evidence of mitochondrial dysfunction (MtD) without
the classic features associated with mitochondrial disease. MtD appears
to be more common in autism and presents with less severe signs and
symptoms. It is not associated with discernable mitochondrial pathology
in muscle biopsy specimens despite objective evidence of lowered
mitochondrial functioning." (4)
Important insights with clinical significance can occur if
mitochonddrial evaluations occur:
"In all patients with mitochondrial disease, identification of
treatable metabolic changes such as deficiencies in coenzyme Q10 and
defects in cerebral folate metabolism is important. Patients with
mitochondrial disease are at increased risk of developing a defect in
cerebral folate metabolism... Cerebral folate deficiencies are also
reported in autistic spectrum disorders..." (1, p4)
"Unfortunately, many children with abnormal development caused by
mitochondrial diseases are not diagnosed..." (1; p4), yet most children
are virtually forced to abide by one-size-fits-all vaccination
Conclusion: The researchers who participated in Black et al are to be
congratulated. Their findings add importantly to peer-reviewed
literature about vaccinations and autistic regression in the presence
of signs and symptoms of classical mitochondrial disorder and, we add,
possibly MtD. Furthermore, the study calls attention to an important
issue: Had the anti-pyretic Tylenol been given to the children who
regressed in response to vaccination while having fever and signs
and/or symptoms of mitochondrial pathology?
More generally, as explained by William Egan, M.D., of the FDA's Center
for Biologics Evaluation & Research, policy regarding vaccinations
had long been to avoid the vaccinating of sick or recently sick
children. However, so as to increase vaccination rates (ie, coverage),
that policy had been changed to one of recommended that sick and
recently sick children be vaccinated (30).
Unfortunately, that policy change and the vaccinating of sick or
recently sick children -- particularly when multiple vaccines are
injected during the same incident -- may have been etiologically
significant in many cases wherein the child regressed into autism. And
why this policy change may be been significant can be found (i) in
peer-reviewed studies about glutathione (GSH), weak alleles of
GSH-related genes, and Tylenol (eg, 9-24, 27-29), and (ii) amid
specific children's clinical lab data consistent with MtD (4).
Furthermore, as informed by the tragedy of Hannah Poling's
vaccination-induced regression, these various risk factors may be all
the more important among infants and toddlers who have at least some
signs and symptoms of MtD but have not been properly evaluated prior to
Science - even clinical lab science - is running far ahead of
vaccination policies determined and enforced by zealotistic
practitioners of vaccinology.
Perhaps infants and toddlers ought be screened for weak alleles
and for indications of mitochondrial dysfunction.
1. Fever Plus Mitochondrial Disease Could
Be Risk Factors for Autistic Regression
John Shoffner, MD, Lauren Hyams, PhD... and Keith Hyland, PhD1
Journal of Child Neurology 000(00) 1-6 2009.