Re: Digest Number 1887

[Guest guest]

Terri,

Welcome to the list. There are quite a few parents on the list who have

children with autism spectrum disorders. Have you seen the abstract

from Dr. Kelley's talk to the Mitochondrial Interest Group Minisymposium

in 2000?

Here is the website:

http://tango01.cit.nih.gov/sig/mito/webversion.pdf

Abnormalities of Mitochondrial Metabolism in Children with Austistic

Spectrum Disorders

Although developmental delay is a common characteristic of children with

disorders of mitochondrial metabolism, classical autism, Asperger

syndrome, and PDD have not common been associated with mitochondrial

disease. Because our institutions servers a large number of children

with developmental disabilities, we have and the opportunity to diagnose

many metabolic diseases among children with autistic spectrum disorders

including including defects of organic acid, sterol, and mitochondrial

metabolism. Among these, mitochondrial disease is the most common

diagnostic category and represents a clinically significant fraction of

autistic children. Although we find a variety of autistic phenotypes to

have associated mitochondrial abnormalities, the most common is

nonspecific PDD, typically of a form that language and cognitive

regression or stagnation during the second year. Most surprising among

multiplex families is that the biochemical and clinical markers of

mitochondrial disease often segregate in an autosomal dominant dominant

manner. Although no molecular lesion has yet been found in the

autosomal dominant families, the biochemical findings are most

consistent with abnormal complex I activity. Moreover, when identified

below the age of two years, affected children often respond to therapy

designed to augment complex I activity. We propose that, like the basal

ganglia, areas of the brain important in language development and

personal social interaction are especially vulnerable in the first two

years to injury mediated by defects of mitochondrial energy metabolism,

and that early and careful evaluation of autistic children from these

more subtle mitochondrial disturbances may rescue them from more severe

brain injury.

Were you given any recommendations to augment Complex I activity?