Mitochondrial disease in autism spectrum disorder patients: a cohort analysis.

<h4>Background</h4>Previous reports indicate an association between autism spectrum disorders (ASD) and disorders of mitochondrial oxidative phosphorylation. One study suggested that children with both diagnoses are clinically indistinguishable from children with idiopathic autism. There...

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Autores principales:	Jacqueline R Weissman, Richard I Kelley, Margaret L Bauman, Bruce H Cohen, Katherine F Murray, Rebecca L Mitchell, Rebecca L Kern, Marvin R Natowicz
Formato:	article
Lenguaje:	EN
Publicado:	Public Library of Science (PLoS) 2008
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/02399116ca0048f98c0eddff16715387
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spelling	oai:doaj.org-article:02399116ca0048f98c0eddff167153872021-11-25T06:18:23ZMitochondrial disease in autism spectrum disorder patients: a cohort analysis.1932-620310.1371/journal.pone.0003815https://doaj.org/article/02399116ca0048f98c0eddff167153872008-01-01T00:00:00Zhttps://www.ncbi.nlm.nih.gov/pmc/articles/pmid/19043581/?tool=EBIhttps://doaj.org/toc/1932-6203<h4>Background</h4>Previous reports indicate an association between autism spectrum disorders (ASD) and disorders of mitochondrial oxidative phosphorylation. One study suggested that children with both diagnoses are clinically indistinguishable from children with idiopathic autism. There are, however, no detailed analyses of the clinical and laboratory findings in a large cohort of these children. Therefore, we undertook a comprehensive review of patients with ASD and a mitochondrial disorder.<h4>Methodology/principal findings</h4>We reviewed medical records of 25 patients with a primary diagnosis of ASD by DSM-IV-TR criteria, later determined to have enzyme- or mutation-defined mitochondrial electron transport chain (ETC) dysfunction. Twenty-four of 25 patients had one or more major clinical abnormalities uncommon in idiopathic autism. Twenty-one patients had histories of significant non-neurological medical problems. Nineteen patients exhibited constitutional symptoms, especially excessive fatigability. Fifteen patients had abnormal neurological findings. Unusual developmental phenotypes included marked delay in early gross motor milestones (32%) and unusual patterns of regression (40%). Levels of blood lactate, plasma alanine, and serum ALT and/or AST were increased at least once in 76%, 36%, and 52% of patients, respectively. The most common ETC disorders were deficiencies of complex I (64%) and complex III (20%). Two patients had rare mtDNA mutations of likely pathogenicity.<h4>Conclusions/significance</h4>Although all patients' initial diagnosis was idiopathic autism, careful clinical and biochemical assessment identified clinical findings that differentiated them from children with idiopathic autism. These and prior data suggest a disturbance of mitochondrial energy production as an underlying pathophysiological mechanism in a subset of individuals with autism.Jacqueline R WeissmanRichard I KelleyMargaret L BaumanBruce H CohenKatherine F MurrayRebecca L MitchellRebecca L KernMarvin R NatowiczPublic Library of Science (PLoS)articleMedicineRScienceQENPLoS ONE, Vol 3, Iss 11, p e3815 (2008)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Jacqueline R Weissman Richard I Kelley Margaret L Bauman Bruce H Cohen Katherine F Murray Rebecca L Mitchell Rebecca L Kern Marvin R Natowicz Mitochondrial disease in autism spectrum disorder patients: a cohort analysis.
description	<h4>Background</h4>Previous reports indicate an association between autism spectrum disorders (ASD) and disorders of mitochondrial oxidative phosphorylation. One study suggested that children with both diagnoses are clinically indistinguishable from children with idiopathic autism. There are, however, no detailed analyses of the clinical and laboratory findings in a large cohort of these children. Therefore, we undertook a comprehensive review of patients with ASD and a mitochondrial disorder.<h4>Methodology/principal findings</h4>We reviewed medical records of 25 patients with a primary diagnosis of ASD by DSM-IV-TR criteria, later determined to have enzyme- or mutation-defined mitochondrial electron transport chain (ETC) dysfunction. Twenty-four of 25 patients had one or more major clinical abnormalities uncommon in idiopathic autism. Twenty-one patients had histories of significant non-neurological medical problems. Nineteen patients exhibited constitutional symptoms, especially excessive fatigability. Fifteen patients had abnormal neurological findings. Unusual developmental phenotypes included marked delay in early gross motor milestones (32%) and unusual patterns of regression (40%). Levels of blood lactate, plasma alanine, and serum ALT and/or AST were increased at least once in 76%, 36%, and 52% of patients, respectively. The most common ETC disorders were deficiencies of complex I (64%) and complex III (20%). Two patients had rare mtDNA mutations of likely pathogenicity.<h4>Conclusions/significance</h4>Although all patients' initial diagnosis was idiopathic autism, careful clinical and biochemical assessment identified clinical findings that differentiated them from children with idiopathic autism. These and prior data suggest a disturbance of mitochondrial energy production as an underlying pathophysiological mechanism in a subset of individuals with autism.
format	article
author	Jacqueline R Weissman Richard I Kelley Margaret L Bauman Bruce H Cohen Katherine F Murray Rebecca L Mitchell Rebecca L Kern Marvin R Natowicz
author_facet	Jacqueline R Weissman Richard I Kelley Margaret L Bauman Bruce H Cohen Katherine F Murray Rebecca L Mitchell Rebecca L Kern Marvin R Natowicz
author_sort	Jacqueline R Weissman
title	Mitochondrial disease in autism spectrum disorder patients: a cohort analysis.
title_short	Mitochondrial disease in autism spectrum disorder patients: a cohort analysis.
title_full	Mitochondrial disease in autism spectrum disorder patients: a cohort analysis.
title_fullStr	Mitochondrial disease in autism spectrum disorder patients: a cohort analysis.
title_full_unstemmed	Mitochondrial disease in autism spectrum disorder patients: a cohort analysis.
title_sort	mitochondrial disease in autism spectrum disorder patients: a cohort analysis.
publisher	Public Library of Science (PLoS)
publishDate	2008
url	https://doaj.org/article/02399116ca0048f98c0eddff16715387
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Mitochondrial disease in autism spectrum disorder patients: a cohort analysis.

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