Publication Type Case Report
Authors Pons R, Andreu A, Checcarelli N, Vilà M, Engelstad K, Sue C, Shungu D, Haggerty R, de Vivo D, DiMauro S
Journal J Pediatr
Volume 144
Issue 1
Pagination 81-5
Date Published 01/01/2004
ISSN 0022-3476
Keywords Autistic Disorder, DNA, Mitochondrial, Mitochondrial Diseases
Abstract OBJECTIVES: To further characterize mtDNA defects associated with autistic features, especially the A3243G mtDNA mutation and mtDNA depletion.Study design Five patients with autistic spectrum disorders and family histories of mitochondrial DNA diseases were studied. We performed mtDNA analysis in all patients and magnetic resonance spectroscopy in three. RESULTS: Three patients manifested isolated autistic spectrum features and two had additional neurologic symptoms. Two patients harbored the A3243G mutation. In two others, the A3243G mutation was not found in accessible tissues but was present in tissues from their mothers. The fifth patient had 72% mtDNA depletion in skeletal muscle. CONCLUSIONS: Autistic spectrum disorders with or without additional neurologic features can be early presentations of the A3243G mtDNA mutation and can be a prominent clinical manifestation of mtDNA depletion. Mitochondrial dysfunction should be considered in patients who have autistic features and associated neurologic findings or who have evidence of maternal inheritance.
DOI 10.1016/j.jpeds.2003.10.023
PubMed ID 14722523
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