Hi, everyone,

I am a member of another group for children affected by
Mitochondrial Disease. Our daughter is both autistic and has
Mitochondrial Disease Complex I. Many, many of the children are
like this. Please read the following very important information
that was passed on to us:

Dr. Marvin Natowicz is a neurogeneticist previously practicing at
Mass General Hosp., Boston and the Eunice Kennedy Shriver Center in
Waltham, MA where he was the Medical Director of Genetics. He is
now a member of the metabolic team at the Cleveland Clinic.
Natowicz is specifically interested in metabolic disorders in autism
and, in a 1999 Boston based "LADDERS" lecture, enumerated a number
of "red flags" which invite investigation into underlying metabolic
(including mito) disease in autism:

Red flags requiring further scrutiny by metabolic clinicians:

1. The autism is not classic and/or the diagnosis is not
straightforward when observed by credible specialists. Examples of
this are children who may score as autistic or PDD-NOS by DSM-IV
criteria because they have language, social and behavioral
deficits. However, professionals often say that they have "too much
eye contact" or a certain "eye quality" or are "too social" even
though their social skills are below expectations for developmental
age. Diagnosticians use terms like "atypical autism" or "features
of atypical autism," or they may say, it's "not quite autism" but
we're not sure what it is either. This is a "squishy" diagnosis.

2. Developmental regression: Because some 25-33% of autism is
regressive in the first year of life, some clinicians discard these
kids as unworthy of further scrutiny. Loss of previously attained
skills is always significant and should be carefully regarded by
medical professionals. Video documentation is very helpful.

3. Neurological regression: This might manifest as loss of
muscle strength or physical ability, easy fatigue or lethargy. Be
on the look out for intermittent loss.

4. Seizures: Some 33% or more of children with autism are
expected to show EEG abnormality or seizure activity in their
lifetime so many clinicians discard this very important marker for
metabolic stress.

5. Food intolerances or avoidance: If foods cause changes in
neurological status, this is significant for metabolic disorder. A
child who has typical or near typical muscle skills but becomes
frankly ataxic upon eating a certain food, may have a "leaky form"
or partial defect associated with a given metabolic disorder. For
example, children with less advanced maple syrup urine disease
(MSUD) can become clumsy after eating foods high in branched chain
amino acids (generally proteins). The disorder may be more apparent
under circumstances where there is a greater catabolic demand on the
body such as during fasting (i.e. overnight) or infection. For this
reason, first in the AM urine is often preferred for analysis. This
underscores the need to collect urine samples during times of
obvious unbalance or muscle loss.

6. Given the proper educational, behavioral and therapeutic
supports, children with autism are capable of learning. When
children do not learn (or lose cognitive skills), one may first
question whether the child is being taught appropriately. If the
answer is "yes" or if the educational piece is corrected and the
child still does not make progress, metabolic scrutiny is often
appropriate. When observed together with one or more other "red
flags," lack of learning in autism demands scrutiny.

7. Family history: a second affected sibling cries out for
metabolic scrutiny. I would venture to add here that families who
have a history of miscarriage along with an affected child, should
demand further metabolic work up in their child.

8. Unusual findings on physical examination including:
*growth retardation or excessive growth
*small head circumference esp. if this declines over time
relative to over-all-size
*significant motor dysfunction
*atypical biochemical findings [examples include but not
limited to low blood CO2, high blood ammonia, liver function
abnormalities, creatine phosphokinase (CPK) abnormalities indicative
of muscle injury, etc.. Some clinicians feel that values must be at
least 2 standard deviations from the mean in order to be
significant. Most agree that flagged values (i.e. any value outside
the normal reference range) warrent a repeat blood draw for
validation.]

For more information, contact www.umdf.org, www.mitosoc.org,
www.mitoaction.org.