{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T18:04:47Z","timestamp":1791223487399,"version":"4.1.0"},"reference-count":44,"publisher":"American Academy of Pediatrics (AAP)","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2007,4,1]]},"abstract":"<jats:p>OBJECTIVES. We sought to determine the clinical spectrum, survival, and long-term functional outcome of a cohort of pediatric patients with mitochondrial diseases and to identify prognostic factors.<\/jats:p>\n                  <jats:p>METHODS. Medical charts were reviewed for 73 children diagnosed between 1985 and 2005. The functional status of living patients was assessed prospectively by using the standardized Functional Independence Measure scales.<\/jats:p>\n                  <jats:p>RESULTS. Patients fell into 7 phenotypic categories: neonatal-onset lactic acidosis (10%), Leigh syndrome (18%), nonspecific encephalopathy (32%), mitochondrial (encephalo)myopathy (19%), intermittent neurologic (5%), visceral (11%), and Leber hereditary optic neuropathy (5%). Age at first symptoms ranged from prenatal to 16 years (median: 7 months). Neurologic symptoms were the most common (90%). Visceral involvement was observed in 29% of the patients. A biochemical or molecular diagnosis was identified for 81% of the patients as follows: deficiency of complex IV (27%), of pyruvate dehydrogenase or complex I (25% each), of multiple complexes (13%), and of pyruvate carboxylase (5%) or complexes II+III (5%). A mitochondrial DNA mutation was found in 20% of patients. At present, 46% of patients have died (median age: 13 months), 80% of whom were &amp;lt;3 years of age. Multivariate analysis showed that age at first symptoms was a major independent predictor of mortality: patients with first symptoms before 6 months had a highly increased risk of mortality. Cardiac or visceral involvement and neurologic crises were not independent prognostic factors. Living patients showed a wide range of independence levels that correlated positively with age at first symptoms. Among patients aged &amp;gt;5 years (n = 32), 62% had Functional Independence Measure quotients of &amp;gt;0.75.<\/jats:p>\n                  <jats:p>CONCLUSIONS. Mitochondrial diseases in children span a wide range of symptoms and severities. Age at first symptoms is the strongest predictor mortality. Despite a high mortality rate in the cohort, 62% of patients aged &amp;gt;5 years have only mild impairment or normal functional outcome.<\/jats:p>","DOI":"10.1542\/peds.2006-1866","type":"journal-article","created":{"date-parts":[[2007,4,2]],"date-time":"2007-04-02T12:23:29Z","timestamp":1175516609000},"page":"722-733","source":"Crossref","is-referenced-by-count":164,"title":["Long-term Outcome and Clinical Spectrum of 73 Pediatric Patients With Mitochondrial Diseases"],"prefix":"10.1542","volume":"119","author":[{"given":"Franc\u0327ois-Guillaume","family":"Debray","sequence":"first","affiliation":[{"name":"Divisions of Medical Genetics"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie","family":"Lambert","sequence":"additional","affiliation":[{"name":"Divisions of Medical Genetics"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabelle","family":"Chevalier","sequence":"additional","affiliation":[{"name":"Pediatrics, Department of Pediatrics"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yves","family":"Robitaille","sequence":"additional","affiliation":[{"name":"Departments of Pathology"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean-Claude","family":"Decarie","sequence":"additional","affiliation":[{"name":"Medical Imaging, Centre Hospitalier Universitaire Sainte-Justine, Universite\u0301 de Montreal, Montreal, Quebec, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eric A.","family":"Shoubridge","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Montreal Neurological Institute, McGill University, Montreal, Quebec, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brian H.","family":"Robinson","sequence":"additional","affiliation":[{"name":"Metabolism Research Program, Research Institute, Departments of Pediatrics and Biochemistry, Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Grant A.","family":"Mitchell","sequence":"additional","affiliation":[{"name":"Divisions of Medical Genetics"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"417","published-online":{"date-parts":[[2007,4,1]]},"reference":[{"key":"2021120823324485100_R1","doi-asserted-by":"crossref","unstructured":"DiMauro S, Schon EA. 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