March 5, 2008

Developmental Regression and Mitochondrial Dysfunction in a Child With Autism

After David Kirby's disclosure of the court papers in the Hannah Poling case last week, it became clear that the child in this study was the same child whose autism claim was conceded by the DOJ to be paid by the Vaccine Injury Compensation Fund.

What I didn't know until today was that her father, Jon Poling, MD, PhD, was the lead author on the paper.

For your consideration:

Developmental Regression and Mitochondrial Dysfunction in a Child With Autism
Jon S. Poling, MD, PhD
Department of Neurology and Neurosurgery Johns Hopkins Hospital Baltimore, MD

Richard E. Frye, MD, PhD
Department of Neurology Boston Children's Hospital Boston, MA

John Shoffner, MD
Horizon Molecular Medicine Georgia State University Atlanta, GA

Andrew W. Zimmerman, MD
Department of Neurology and Neurosurgery Johns Hopkins Hospital Kennedy Krieger Institute Baltimore, MD,

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 < .0001). The serum creatine kinase level also was abnormally elevated in 22 (47%) of 47 patients with autism. These data suggest that further metabolic evaluation is indicated in autistic patients and that defects of oxidative phosphorylation might be prevalent. (J Child Neurol 2006;21:170—172; DOI 10.2310/7010.2006.00032).


Pickel said...

I found the mytochondrial (sp) stuff really intriguing. What is your take on it?

Jeffrey Dach MD said...

The Most Bitter Debate

Senator John McCain's recent comments linking autism with vaccines, and the recent revelations about the Hannah Poling case at the Vaccine Court have rekindled the debate about autism and vaccines. Hannah had an underlying mitochondrial disorder which raises the question of a link between autism, vaccines and mitochondrial disorders.

The association between autism and mitochondrial mutations was confirmed by Ricardo Segurado Am J Psychiatry 162:2182-2184, November 2005, and others.

Read more at:

John McCain Links Autism and Vaccines

Autism Vaccines by Jeffrey Dach MD

Jeffrey Dach MD
4700 Sheridan Suite T
Hollywood Fl 33021
my web site