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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).
Hannah Poling is a child who should not have needed early intervention.
She was born healthy and, for the first 18 months of her life, met and often exceeded every developmental milestone.
This changed dramatically when Hannah Poling was almost 19 months old and received nine vaccines (5 shots) in one visit to her pediatrician, on July 19, 2000.
Once Hannah’s parents realized she had autism, they immediately began to provide their daughter with intensive early intervention, first with their Early Start (Part C of IDEA) program in Ellicott City, Maryland, and then with the “Babies Can’t Wait” Special Education Preschool Program in Clarke County, Georgia.
At their March 6 press conference, the Polings expressed their thanks to all of the family, medical and education support they have received over the years, including: the physicians at Kennedy-Krieger Institute at Johns Hopkins; psychiatrists at the Marcus Institute; the Epilepsy Center at Scottish Rite Children’s Hospital; Hannah’s team of local doctors in Athens, GA; the educators and therapists with the Clarke County, GA, school system; and Hannah’s grandmothers, Doris and Fran, without whom “we would never have made it.” They also would like to “thank Auntie Marg,” the author of this article. Hannah’s Parents File in Vaccine Court
Believing vaccines caused Hannah’s autism, her parents filed in federal vaccine court. Their case was lumped with almost 5,000 other autism-vaccine cases that are still pending. Last November, they received a notice from the government conceding their case and therefore removing it from the omnibus autism-vaccine action.
Hannah’s father, Jon Poling, has MD and Ph.D. degrees from Georgetown University. He trained a neurology resident at Johns Hopkins University in Baltimore and is a practicing neurologist in Athens, GA. He has a special interest in treating patients with neuro-immunological disease.
Hannah’s mother, Terry Poling, is a registered nurse with specialized training in critical care as well as an attorney with a degree from Boston University of School of Law. She has left her professional practice but continues to use her training in both occupations to care for their daughter, Hannah Poling.
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1.Developmental regression and mitochondrial dysfunction in a child with autism.
Poling JS, Frye RE, Shoffner J, Zimmerman AW.
J Child Neurol. 2006 Feb;21(2):170-2.PMID: 16566887 [PubMed – indexed for MEDLINE]Free PMC ArticleFree textRelated citations
2.Mitochondrial disease in autism spectrum disorder patients: a cohort analysis.
Weissman JR, Kelley RI, Bauman ML, Cohen BH, Murray KF, Mitchell RL, Kern RL, Natowicz MR.
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Rollins S, Prayson RA, McMahon JT, Cohen BH.
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García-Peñas JJ.
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10.Developmental profile and regression in a child with autism: a single case study.
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