{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,3]],"date-time":"2026-05-03T10:00:49Z","timestamp":1777802449334,"version":"3.51.4"},"reference-count":11,"publisher":"SAGE Publications","issue":"2","license":[{"start":{"date-parts":[[2006,2,1]],"date-time":"2006-02-01T00:00:00Z","timestamp":1138752000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Child Neurol"],"published-print":{"date-parts":[[2006,2]]},"abstract":"<jats:p>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 &lt; .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\u2014172; DOI 10.2310\/7010.2006.00032).<\/jats:p>","DOI":"10.1177\/08830738060210021401","type":"journal-article","created":{"date-parts":[[2007,6,21]],"date-time":"2007-06-21T22:00:05Z","timestamp":1182463205000},"page":"170-172","source":"Crossref","is-referenced-by-count":111,"title":["Developmental Regression and Mitochondrial Dysfunction in a Child With Autism"],"prefix":"10.1177","volume":"21","author":[{"given":"Jon S.","family":"Poling","sequence":"first","affiliation":[{"name":"Department of Neurology and Neurosurgery Johns Hopkins Hospital Baltimore, MD"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Richard E.","family":"Frye","sequence":"additional","affiliation":[{"name":"Department of Neurology Boston Children's Hospital Boston, MA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John","family":"Shoffner","sequence":"additional","affiliation":[{"name":"Horizon Molecular Medicine Georgia State University Atlanta, GA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrew W.","family":"Zimmerman","sequence":"additional","affiliation":[{"name":"Department of Neurology and Neurosurgery Johns Hopkins Hospital Kennedy Krieger Institute Baltimore, MD, ."}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2006,2,1]]},"reference":[{"key":"atypb1","doi-asserted-by":"publisher","DOI":"10.1177\/088307380201700607"},{"key":"atypb2","doi-asserted-by":"publisher","DOI":"10.1177\/088307380001500601"},{"key":"atypb3","doi-asserted-by":"publisher","DOI":"10.1002\/ana.10596"},{"key":"atypb4","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2003.10.023"},{"key":"atypb5","doi-asserted-by":"publisher","DOI":"10.1177\/088307389400900419"},{"key":"atypb6","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10633"},{"key":"atypb7","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(88)90218-8"},{"key":"atypb8","doi-asserted-by":"publisher","DOI":"10.1016\/0005-2728(90)90118-N"},{"key":"atypb9","unstructured":"Shoffner JM: Oxidative phosrphorylation diseases, in Scriver CR, Beaudet AL, Sly WS, Valle D (eds): The Metabolic and Molecular Bases of Inherited Disease. New York, McGraw-Hill, 2001, 2367\u20142423."},{"key":"atypb10","doi-asserted-by":"publisher","DOI":"10.1002\/mrdd.20027"},{"key":"atypb11","doi-asserted-by":"publisher","DOI":"10.1177\/088307380401900510"}],"container-title":["Journal of Child Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/08830738060210021401","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/08830738060210021401","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T20:32:51Z","timestamp":1777494771000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/08830738060210021401"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,2]]},"references-count":11,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2006,2]]}},"alternative-id":["10.1177\/08830738060210021401"],"URL":"https:\/\/doi.org\/10.1177\/08830738060210021401","relation":{},"ISSN":["0883-0738","1708-8283"],"issn-type":[{"value":"0883-0738","type":"print"},{"value":"1708-8283","type":"electronic"}],"subject":[],"published":{"date-parts":[[2006,2]]}}}