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1. Richard E. Frye, MD, PhD
2. 
   
   Department of Neurology Boston Children’s Hospital Boston, MA

1. John Shoffner, MD
2. 
   
   Horizon Molecular Medicine Georgia State University Atlanta, GA

1. Andrew W. Zimmerman, MD
2. 
   
   Department of Neurology and Neurosurgery Johns Hopkins Hospital Kennedy Krieger Institute Baltimore, MD, zimmerman@kennedykrieger.org.

Abstract

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).

Autism, Vaccines and Early Intervention
– the Hannah Poling Case

Hannah Poling – from Birth to 19 Months of Age

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.

• Her favorite pal was her brother, 14 months older, whom she would watch with a smile. She would pull his hair, which he encouraged, and they would both go into fits of laughter.
• She loved playing patty cake and “Itsy Bitsy Spider” and would fill in the words.
• At 17 months, she was talking, following directions, pointing to body parts, and making appropriate animal noises upon request.
• At her July 19, 2000 visit, Hannah’s pediatrician noted that she “spoke well” and was “alert and active.” She could even whistle when asked.

 Hannah Receives 9 Vaccines at 18 Months of Age

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.

• She became immediately ill and, within six months spiraled into the solitary world of autism, losing speech, social reciprocity and motor skills, and showing various hyper- and hypo- sensitivities.
• As Hannah’s father said at a March 6, 2008 press conference in Atlanta, six months after receiving 9 vaccines, “we knew Hannah’s beautiful inquisitive mind wasn’t coming back.”

Early & Intense Intervention

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.

• As a toddler, Hannah had a full-time job – 40-45 hours a week of intense behavioral, speech, occupational and physical therapy.
• Today, at age 9, Hannah is exceptionally verbal and undoubtedly much higher functioning because she received early and intense services.

 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.

About Hannah’s Parents – MD, PhD, JD, RN

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.

• Dr. Poling has just written an important discussion of many of the complicated medical issues concerning his daughter. I’m attaching this piece for those interested in these medical issues.
• Dr. Poling is also lead author of a 2006 article in the Journal of Child Neurology that discusses these issues and describes Hannah as the case study. For an abstract, see http://jcn.sagepub.com/cgi/content/abstract/21/2/170.

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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More Research: 

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.

PLoS One. 2008;3(11):e3815. Epub 2008 Nov 26.PMID: 19043581 [PubMed – indexed for MEDLINE]Free PMC ArticleFree textRelated citations

3.Mitochondrial dysfunction in patients with hypotonia, epilepsy, autism, and developmental delay: HEADD syndrome.