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From the Murdoch Childrens Research Institute (Drs. Bernier and Thorburn); Metabolic Service (Drs. Boneh, Thorburn, and Cleary), Genetic Health Services Victoria; the Department of Paediatrics (Drs. Boneh, Chow and Thorburn), University of Melbourne; State Neuropathology Service (Dr. Dennett), Pathology Department, University of Melbourne; and the Department of Anatomical Pathology (Dr. Chow), Royal Children’s Hospital, Melbourne, Australia.
Address correspondence and reprint requests to Dr. D.R. Thorburn, Murdoch Childrens Research Institute, Royal Children’s Hospital, Flemington Road, Parkville VIC 3052, Australia; e-mail: thorburd{at}cryptic.rch.unimelb.edu.au
Background: Respiratory chain (RC) disorders are clinically, biochemically, and molecularly heterogeneous. The lack of standardized diagnostic criteria poses difficulties in evaluating diagnostic methodologies.
Objective: To assess proposed adult RC diagnostic criteria that classify patients into "definite," "probable," or "possible" categories.
Methods: The authors applied the adult RC diagnostic criteria retrospectively to 146 consecutive children referred for investigation of a suspected RC disorder. Data were collected from hospital, genetics, and laboratory records, and the diagnoses predicted by the adult criteria were compared with the previously assigned assessments.
Results: The authors identified three major difficulties in applying the adult criteria:lack of pediatric-specific criteria; difficulty in segregating continuous data into circumscribed major and minor criteria; and lack of additivity of clinical features or enzyme tests. They therefore modified the adult criteria to allow for pediatric clinical and histologic features and for more sensitive coding of RC enzyme and functional studies. Reanalysis of the patients’ data resulted in congruence between the diagnostic certainty previously assigned by the authors’ center and that defined by the new general RC diagnostic criteria in 99% of patients.
Conclusions: These general diagnostic criteria appear to improve the sensitivity of the adult criteria. They need further assessment in prospective clinical and epidemiologic studies.
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