Sunday, April 13, 2008

A possible cause of Autism?

Dr. John Shoffner, an associate professor at Georgia State University presented findings from a retrospective analysis he did on 37 kids with autism. He found one in five kids on the autism spectrum have mitochondrial defects, meaning the muscles don't get the energy they need.

Dr. Shoffner is quoted in the Washington Post: "If you're talking about 20
percent of kids with autism, that's a whole lot of children, and may represent
an important segment of the autism spectrum disorder population. And we may be
getting a foothold into the underlying cause of autism spectrum disorders," he
said, adding, "This is a really important step forward that lets us put effort
into understanding the mechanisms of disease."

Of the kids in Shoffner's analysis, 65% showed mitochondrial defects. Shoffner said it's not fair to say 65% of kids with autism have the defect because the kids he studied had been referred to him because their doctors suspected something else was wrong.

Here's the full story from the Washington Post.

Remember Hannah Poling, the nine-year-old girl from Georgia who has autism and mitochondrial defects? The Court of Federal Claims conceded that her pre-existing mitochondrial disorder was aggravated by her immunization shots, and that her rare condition lead to her having autism-like symptoms. Dr Shoffner's analysis is bound to stir up some more talk on this issue. What does it mean if Hannah's "rare" condition isn't so rare? And Does mitochrondrial disease play a role in the development of autism?

-NewsAnchorMom Jen


Knight in Dragonland said...

While this is very interesting work, we need to be cautious because this was a special population of autistic children referred to Dr. Shoffner because "something else was wrong." Trying to apply this to a broader autistic population prematurely could result in a lot of unnecessary and very expensive testing. The following is from the Cleveland Clinic:

Mitochondrial disease is diagnosed by:

* Evaluating the patient's family history
* Performing a complete physical examination
* Performing a neurological examination
* Performing a metabolic examination that includes blood, urine, and optional cerebral spinal fluid tests
* Performing other tests, depending on the patient's specific condition and needs. These tests might include:
-- Magnetic resonance imaging (MRI) or scan (MRS) if neurological symptoms are present
-- Retinal exam or electroretinogram if vision symptoms are present
-- Electrocardiogram (EKG) or echocardiogram if heart disease symptoms are present
-- Audiogram or BAEP if hearing symptoms are present
-- Blood test to detect thyroid dysfunction if thyroid problems are present
-- Blood test to perform genetic DNA testing

More invasive tests, such as a skin or muscle biopsy, might be performed as needed and recommended by your doctor.

Certainly any autistic child with signs of specific neurologic deficits, suspected seizures or developmental regression should be evaluated by a neurologist. There are several neurodegenerative disorders (like mitochondrial diseases) and genetic defects (like tuberous sclerosis, neurofibromatosis and Fragile X syndrome) that can have autistic features as a part of their disease spectrum. I have several children in my practice with a history of hypoxic or traumatic brain injury who also have some autistic features. However, I wouldn't subject every child on the autism spectrum to this expensive battery of sometimes invasive testing based on Hannah Poling and this single study of 37 children.

Let me also take this opportunity to correct a frequently misquoted statistic. 1:150 children do NOT have autism. About 1 in 1000 children have full-blown autism ... and that number has remained fairly steady through the years. Perhaps 1:150 children (based on some estimates) can be placed on the autism SPECTRUM. That 1:150 figure includes very high-functioning individuals (high-functioning PDD or Asperger Syndrome) who can be productive and independent members of society and many others with relatively mild levels of impairment.

Caroline Rodgers said...

While determining exactly what percentage of autistics have mitochondrial disorders is important, it is urgent that we find out what is causing mitochondrial disorders in the first place. Most people will be surprised to learn there is evidence that ultrasound can irreversibly damage mitochondria (STEPHENS, R.H., TORBIT, C.A., GROTH, D.G., TAENZER, J.C., & EDMONDS, P.D. (1978) Mitochondrial changes resulting from ultrasound irradiation. In: White, D. & Lyons, E.A. ed.Ultrasound in medicine, New York, Plenum Press, Vol. 4, pp.591-594). Could prenatal ultrasound be causing genetic mutations that lead to autism and other brain disorders? said...

Caroline, I have always wondered about the increase in austism and ultrasounds. When I did my autism special, I noticed ultrasounds are one of the variables that have increased. I obviously don't know whether there is a connection,but it is interesting that you bring that idea up.
and Knight, It will also be interesting to see what comes out of the mitochondrial defect and autism analysis. Will there end up being a connection? It would be nice to have some answers.

Caroline Rodgers said...

News Anchor Mom, I am the author of "Questions about Prenatal Ultrasound and the Alarming Increase in Autism," which is available online at Many moms will be suprised to learn that significant changes in ultrasound techology and application that have occurred since 1991 have not been tested for safety. Earlier this month, the FDA issued a new warning regarding "keepsake" prenatal ultrasounds available at commercial establishments. My question is: if optional ultrasounds are not reliably safe, what are the real risks involved in those that happen under medical supervision? The current issue (April 2008) of the Journal of Ultrasound in Medicine reports that in two surveys among ultrasound operators, 78 to 80 percent of the respondents did not know where to find information regarding acoustic indices on their own machines.Fewer than 25 percent understood the all-important thermal index. It appears that the majority of people entrusted with conducting ultrasound scans do not know how to ensure that they are safely administered.

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