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/10.1016/j.nmd.2006.08.006" target="_blank" rel="noreferrer">http://doi.org/10.1016/j.nmd.2006.08.006</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
A scale to monitor progression and treatment of mitochondrial disease in children.
Publisher
An entity responsible for making the resource available
Neuromuscular Disorders
Date
A point or period of time associated with an event in the lifecycle of the resource
2006
Subject
The topic of the resource
Child; Female; Humans; infant; Male; Great Britain; Prognosis; Disease Progression; Longitudinal Studies; Reproducibility of Results; Observer Variation; Predictive Value of Tests; Disability Evaluation; adolescent; Preschool; infant; Q3 Literature Search; Newborn; Pediatrics/methods; Mitochondrial Diseases/diagnosis/therapy; Mitochondrial Encephalomyopathies/diagnosis/therapy; Neurology/methods
Creator
An entity primarily responsible for making the resource
Phoenix C; Schaefer AM; Elson JL; Morava E; Bugiani M; Uziel G; Smeitink JA; Turnbull DM; McFarland R
Description
An account of the resource
Mitochondrial diseases affect all age groups, but those with childhood onset often seem to experience the greatest burden of disability. In some paediatric patients this can be explained by a cumulative disability acquired over many years. In others, additional factors, including the nature and severity of the molecular defect, must be considered. To date, no large-scale studies have attempted to document the natural history of paediatric mitochondrial disease. This is in part at least, because no assessment tool has been available to plot the temporal course of a disease with such a diverse clinical spectrum. This paper describes how a practical and semi-quantitative rating scale has been devised for children with mitochondrial disease, the Newcastle paediatric mitochondrial disease scale (NPMDS). The scale is multi-dimensional and reproducible, offering a tool through which mitochondrial disease progression can be objectively monitored. We anticipate that use of this tool will facilitate both longitudinal natural history studies and the assessment of future therapeutic interventions.
2006
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1016/j.nmd.2006.08.006" target="_blank" rel="noreferrer">10.1016/j.nmd.2006.08.006</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
2006
Adolescent
Backlog
Bugiani M
Child
Disability Evaluation
Disease Progression
Elson JL
Female
Great Britain
Humans
Infant
Journal Article
Longitudinal Studies
Male
McFarland R
Mitochondrial Diseases/diagnosis/therapy
Mitochondrial Encephalomyopathies/diagnosis/therapy
Morava E
Neurology/methods
Neuromuscular Disorders
Newborn
Observer Variation
Pediatrics/methods
Phoenix C
Predictive Value of Tests
Preschool
Prognosis
Q3 Scoping Review Results
Reproducibility of Results
Schaefer AM
Smeitink JA
Turnbull DM
Uziel G