1 40 1 Text A resource consisting primarily of words for reading. Examples include books, letters, dissertations, poems, newspapers, articles, archives of mailing lists. Note that facsimiles or images of texts are still of the genre Text. Citation List Month Backlog URL Address <a href="http://doi.org/10.1542/peds.2004-0718" target="_blank" rel="noreferrer">http://doi.org/10.1542/peds.2004-0718</a> Dublin Core The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/. Title A name given to the resource Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial disease Publisher An entity responsible for making the resource available Pediatrics Date A point or period of time associated with an event in the lifecycle of the resource 2004 Subject The topic of the resource Child; Female; Humans; infant; Male; Mutation; Survival Analysis; adolescent; Preschool; Non-U.S. Gov't; Research Support; infant; Newborn; retrospective studies; Age of Onset; DNA; Cardiomyopathies/etiology/mortality; Electron Transport; Electron Transport Chain Complex Proteins/deficiency; Mitochondrial; Mitochondrial Diseases/complications/genetics/mortality; Neuromuscular Diseases/etiology/mortality Creator An entity primarily responsible for making the resource Scaglia F; Towbin JA; Craigen WJ; Belmont JW; Smith EO; Neish SR; Ware SM; Hunter JV; Fernbach SD; Vladutiu GD; Wong LJ; Vogel H Description An account of the resource OBJECTIVES: The aim of this study was to elucidate the frequency of major clinical manifestations in children with mitochondrial disease and establish their clinical course, prognosis, and rates of survival depending on their clinical features. METHODS: We performed a retrospective review of the medical records of 400 patients who were referred for evaluation of mitochondrial disease. By use of the modified Walker criteria, only patients who were assigned a definite diagnosis were included in the study. RESULTS: A total of 113 pediatric patients with mitochondrial disease were identified. A total of 102 (90%) patients underwent a muscle biopsy as part of the diagnostic workup. A significant respiratory chain (RC) defect, according to the diagnostic criteria, was found in 71% of the patients who were evaluated. In this cohort, complex I deficiency (32%) and combined complex I, III, and IV deficiencies (26%) were the most common causes of RC defects, followed by complex IV (19%), complex III (16%), and complex II deficiencies (7%). Pathogenic mitochondrial DNA abnormalities were found in 11.5% of the patients. A substantial fraction (40%) of patients with mitochondrial disorders exhibited cardiac disease, diagnosed by Doppler echocardiography; however, the majority (60%) of patients had predominant neuromuscular manifestations. No correlation between the type of RC defect and the clinical presentation was observed. Overall, the mean age at presentation was 40 months. However, the mean age at presentation was 33 months in the cardiac group and 44 months in the noncardiac group. Twenty-six (58%) patients in the cardiac group exhibited hypertrophic cardiomyopathy, 29% had dilated cardiomyopathy, and the remainder (13%) had left ventricular noncompaction. Patients with cardiomyopathy had an 18% survival rate at 16 years of age. Patients with neuromuscular features but no cardiomyopathy had a 95% survival at the same age. CONCLUSIONS: This study gives strong support to the view that in patients with RC defects, cardiomyopathy is more common than previously thought and tends to follow a different and more severe clinical course. Although with a greater frequency than previously reported, mitochondrial DNA mutations were found in a minority of patients, emphasizing that most mitochondrial disorders of childhood follow a Mendelian pattern of inheritance. 2004 Identifier An unambiguous reference to the resource within a given context <a href="http://doi.org/10.1542/peds.2004-0718" target="_blank" rel="noreferrer">10.1542/peds.2004-0718</a> Rights Information about rights held in and over the resource Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s). Type The nature or genre of the resource Journal Article 2004 Adolescent Age of Onset Backlog Belmont JW Cardiomyopathies/etiology/mortality Child Craigen WJ DNA Electron Transport Electron Transport Chain Complex Proteins/deficiency Female Fernbach SD Humans Hunter JV Infant Journal Article Male Mitochondrial Mitochondrial Diseases/complications/genetics/mortality Mutation Neish SR Neuromuscular Diseases/etiology/mortality Newborn Non-U.S. Gov't Pediatrics Preschool Research Support Retrospective Studies Scaglia F Smith EO Survival Analysis Towbin JA Vladutiu GD Vogel H Ware SM Wong LJ