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Journal of Child Neurology
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Article

Fever Plus Mitochondrial Disease Could Be Risk Factors for Autistic Regression

John Shoffner, MD1*, Lauren Hyams, PhD2, Genevieve Niedziela-Langley, BS2, Stephanie Cossette, BS2, Lauren Mylacraine, BS2, Jeffrey Dale, BS2, Lisa Ollis, BS2, Sara Kuoch, BS2, Kevin Bennett, Audra Aliberti, BS2, and Keith Hyland, PhD2

1 Medical Neurogenetics and Georgia State University, Atlanta, Georgia
2 Medical Neurogenetics, LLC, Atlanta, Georgia

* To whom correspondence should be addressed. E-mail: jshoffner{at}medicalneurogenetics.com.


  Abstract
Autistic spectrum disorders encompass etiologically heterogeneous persons, with many genetic causes. A subgroup of these individuals has mitochondrial disease. Because a variety of metabolic disorders, including mitochondrial disease show regression with fever, a retrospective chart review was performed and identified 28 patients who met diagnostic criteria for autistic spectrum disorders and mitochondrial disease. Autistic regression occurred in 60.7% (17 of 28), a statistically significant increase over the general autistic spectrum disorder population (P < .0001). Of the 17 individuals with autistic regression, 70.6% (12 of 17) regressed with fever and 29.4% (5 of 17) regressed without identifiable linkage to fever or vaccinations. None showed regression with vaccination unless a febrile response was present. Although the study is small, a subgroup of patients with mitochondrial disease may be at risk of autistic regression with fever. Although recommended vaccinations schedules are appropriate in mitochondrial disease, fever management appears important for decreasing regression risk.

First published on September 22, 2009
Journal of Child Neurology 2009, doi:10.1177/0883073809342128
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