Long-term outcome and clinical spectrum of 73 pediatric patients with mitochondrial diseases

Title

Long-term outcome and clinical spectrum of 73 pediatric patients with mitochondrial diseases

Creator

Debray FG; Lambert M; Chevalier I; Robitaille Y; Decarie JC; Shoubridge EA; Robinson BH; Mitchell GA

Publisher

Pediatrics

Date

2007

Subject

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

Description

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

Rights

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

Journal Article

Citation List Month

Backlog

Pages

722-733

Issue

4

Volume

119

Citation

Debray FG; Lambert M; Chevalier I; Robitaille Y; Decarie JC; Shoubridge EA; Robinson BH; Mitchell GA, “Long-term outcome and clinical spectrum of 73 pediatric patients with mitochondrial diseases,” Pediatric Palliative Care Library, accessed September 28, 2021, https://pedpalascnetlibrary.omeka.net/items/show/13984.

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