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Text
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URL Address
<a href="http://doi.org/10.1542/peds.2006-1866" target="_blank" rel="noreferrer">http://doi.org/10.1542/peds.2006-1866</a>
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Title
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Long-term outcome and clinical spectrum of 73 pediatric patients with mitochondrial diseases
Publisher
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Pediatrics
Date
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2007
Subject
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Child; Female; Humans; infant; Male; Cohort Studies; Follow-Up Studies; Severity of Illness Index; Survival Analysis; Longitudinal Studies; Probability; Time Factors; Proportional Hazards Models; Preschool; infant; Q3 Literature Search; Newborn; AIM; IM; retrospective studies; cause of death; DNA; Mitochondrial Diseases/ge [Genetics]; Mitochondrial/ge [Genetics]; MELAS Syndrome/di [Diagnosis]; Mitochondrial Encephalomyopathies/di [Diagnosis]; DNA Fragmentation; HEREDITARY; Leber/di [Diagnosis]; Leber/ge [Genetics]; Leber/mo [Mortality]; MELAS Syndrome/mo [Mortality]; MELAS Syndrome/th [Therapy]; Mitochondrial Diseases/di [Diagnosis]; Mitochondrial Diseases/mo [Mortality]; Mitochondrial Encephalomyopathies/mo [Mortality]; Mitochondrial Encephalomyopathies/th [Therapy]; Mitochondrial Myopathies/di [Diagnosis]; Mitochondrial Myopathies/ge [Genetics]; Mitochondrial Myopathies/mo [Mortality]; Optic Atrophy
Creator
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Debray FG; Lambert M; Chevalier I; Robitaille Y; Decarie JC; Shoubridge EA; Robinson BH; Mitchell GA
Description
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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. 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. 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 5 years (n = 32), 62% had Functional Independence Measure quotients of >0.75. 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 >5 years have only mild impairment or normal functional outcome.
2007
Identifier
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<a href="http://doi.org/10.1542/peds.2006-1866" target="_blank" rel="noreferrer">10.1542/peds.2006-1866</a>
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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
2007
AIM
Backlog
Cause Of Death
Chevalier I
Child
Cohort Studies
Debray FG
Decarie JC
DNA
DNA Fragmentation
Female
Follow-up Studies
HEREDITARY
Humans
IM
Infant
Journal Article
Lambert M
Leber/di [Diagnosis]
Leber/ge [Genetics]
Leber/mo [Mortality]
Longitudinal Studies
Male
MELAS Syndrome/di [Diagnosis]
MELAS Syndrome/mo [Mortality]
MELAS Syndrome/th [Therapy]
Mitchell GA
Mitochondrial Diseases/di [Diagnosis]
Mitochondrial Diseases/ge [Genetics]
Mitochondrial Diseases/mo [Mortality]
Mitochondrial Encephalomyopathies/di [Diagnosis]
Mitochondrial Encephalomyopathies/mo [Mortality]
Mitochondrial Encephalomyopathies/th [therapy]
Mitochondrial Myopathies/di [Diagnosis]
Mitochondrial Myopathies/ge [Genetics]
Mitochondrial Myopathies/mo [Mortality]
Mitochondrial/ge [Genetics]
Newborn
Optic Atrophy
Pediatrics
Preschool
Probability
Proportional Hazards Models
Q3 Scoping Review Results
Retrospective Studies
Robinson BH
Robitaille Y
Severity Of Illness Index
Shoubridge EA
Survival Analysis
Time Factors