Autism Studies and Related Medical Conditions, January 2009 - TACA

and Statistical Manual of Mental Disorders (4th edn), the Autism Diagnostic
Interview-Revised, and the Childhood Autism Rating Scale. Clinical history and a
laboratory investigation was performed. In parallel, a systematic multi-source
search of children known to have autism was carried out in a restricted region.
The global prevalence of ASD per 10,000 was 9.2 in mainland, and 15.6 in the
Azores, with intriguing regional differences. A diversity of associated medical
conditions was documented in 20%, with an unexpectedly high rate of
mitochondrial respiratory chain disorders.
Oliveira, G., L. Diogo, et al. (2005). "Mitochondrial dysfunction in autism spectrum
disorders: a population-based study." Dev Med Child Neurol 47(3): 185-9.
A minority of cases of autism has been associated with several different organic
conditions, including bioenergetic metabolism deficiency. In a population-based
study, we screened associated medical conditions in a group of 120 children with
autism (current age range 11y 5mo to 14y 4mo, mean age 12y 11mo [SD
9.6mo], male:female ratio 2.9:1). Children were diagnosed using Diagnostic and
Statistical Manual of Mental Disorders criteria, the Autism Diagnostic Interview--
Revised, and the Childhood Autism Rating Scale; 76% were diagnosed with
typical autism and 24% with atypical autism. Cognitive functional level was
assessed with the Griffiths scale and the Wechsler Intelligence Scale for Children
and was in the normal range in 17%. Epilepsy was present in 19 patients.
Plasma lactate levels were measured in 69 patients, and in 14 we found
hyperlactacidemia. Five of 11 patients studied were classified with definite
mitochondrial respiratory chain disorder, suggesting that this might be one of the
most common disorders associated with autism (5 of 69; 7.2%) and warranting
further investigation.
Poling, J. S., R. E. Frye, et al. (2006). "Developmental regression and mitochondrial
dysfunction in a child with autism." J Child Neurol 21(2): 170-2.
Autistic spectrum disorders can be associated with mitochondrial dysfunction. We
present a singleton case of developmental regression and oxidative
phosphorylation disorder in a 19-month-old girl. Subtle abnormalities in the
serum creatine kinase level, aspartate aminotransferase, and serum bicarbonate
led us to perform a muscle biopsy, which showed type I myofiber atrophy,
increased lipid content, and reduced cytochrome c oxidase activity. There were
marked reductions in enzymatic activities for complex I and III. Complex IV
(cytochrome c oxidase) activity was near the 5% confidence level. To determine
the frequency of routine laboratory abnormalities in similar patients, we
performed a retrospective study including 159 patients with autism (Diagnostic
and Statistical Manual of Mental Disorders-IV and Childhood Autism Rating Scale)
not previously diagnosed with metabolic disorders and 94 age-matched controls
with other neurologic disorders. Aspartate aminotransferase was elevated in 38%
of patients with autism compared with 15% of controls (P