Autism Studies and Related Medical Conditions, January 2009 - TACA

observation suggests that certain mitochondrial point mutations could be the
basis for autism in some individuals.
Lerman-Sagie, T., E. Leshinsky-Silver, et al. (2004). "Should autistic children be
evaluated for mitochondrial disorders?" J Child Neurol 19(5): 379-81.
Autism is etiologically heterogeneous; medical conditions are implicated in only a
minority of cases, whereas metabolic disorders are even less common. Recently,
there have been articles describing the association of autism with mitochondrial
abnormalities. We critically review the current literature and conclude that
mitochondrial disorders are probably a rare and insignificant cause of pure
autism; however, evidence is accumulating that both autosomal recessive and
maternally inherited mitochondrial disorders can present with autistic features.
Most patients will present with multisystem abnormalities associated with autistic
behavior. Finding biochemical or structural mitochondrial abnormalities in an
autistic child does not necessarily imply a primary mitochondrial disorder but can
also be secondary to technical inaccuracies or another genetic disorder. Clinicians
should be careful in diagnosing a mitochondrial disorder in an autistic child
because it has important implications for accurate genetic counseling, prognosis,
and therapy.
Lombard, J. (1998). "Autism: a mitochondrial disorder?" Med Hypotheses 50(6): 497-
500.
Autism is a developmental disorder characterized by disturbance in language,
perception and socialization. A variety of biochemical, anatomical and
neuroradiographical studies imply a disturbance of brain energy metabolism in
autistic patients. The underlying etiology of a disturbed bioenergetic metabolism
in autism is unknown. A likely etiological possibility may involve mitochondrial
dysfunction with concomitant defects in neuronal oxidative phosphorylation
within the central nervous system. This hypothesis is supported by a frequent
association of lactic acidosis and carnitine deficiency in autistic patients.
Mitochondria are vulnerable to a wide array of endogenous and exogenous
factors which appear to be linked by excessive nitric oxide production. Strategies
to augment mitochondrial function, either by decreasing production of
endogenous toxic metabolites, reducing nitric oxide production, or stimulating
mitochondrial enzyme activity may be beneficial in the treatment of autism.
Oliveira, G., A. Ataide, et al. (2007). "Epidemiology of autism spectrum disorder in
Portugal: prevalence, clinical characterization, and medical conditions." Dev Med Child
Neurol 49(10): 726-33.
The objective of this study was to estimate the prevalence of autistic spectrum
disorder (ASD) and identify its clinical characterization, and medical conditions in
a paediatric population in Portugal. A school survey was conducted in elementary
schools, targeting 332,808 school-aged children in the mainland and 10,910 in
the Azores islands. Referred children were directly assessed using the Diagnostic
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