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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
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Treatment of Symptoms in Children with Q3 Conditions Scoping Review Results
Text
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URL Address
<a href="http://doi.org/10.1007/s10545-011-9421-6" target="_blank" rel="noreferrer noopener">http://doi.org/10.1007/s10545-011-9421-6</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
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Females experience a more severe disease course in batten disease
Publisher
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Journal of Inherited Metabolic Disease
Date
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2012
Subject
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behavior; tone and motor; NCL3; trajectory; characteristics
Creator
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Cialone J; Adams H; Augustine E F; Marshall F J; Kwon J M; Newhouse N; Vierhile A; Levy E; Dure L S; Rose K R; Ramirez-Montealegre D; De Blieck E A; Mink J W
Description
An account of the resource
Juvenile neuronal ceroid lipofuscinosis (JNCL; CLN3 disease; Batten disease) is an autosomal recessive neurodegenerative disease of childhood. Symptoms typically present at school age with vision loss followed by progressive cognitive decline, motor dysfunction, seizures, and behavior problems. Studies on sex differences in JNCL have yielded mixed results, but parent anecdotes suggest that females experience a more precipitous disease course. Therefore, we sought to determine if sex-based differences exist in JNCL. We used data from the Unified Batten Disease Rating Scale (UBDRS), the Batten Disease Support and Research Association (BDSRA) database, and the PedsQL quality of life (QoL) survey to evaluate sex-based differences in functional independence and time from symptom onset to death. On average, females had JNCL symptom onset one year later and death one year earlier than did males. Despite a later age at onset, females had lower functional capability, earlier loss of independent function, and lower physical QoL. Future research in sex differences in JNCL may help to further understand the biological mechanisms underpinning the disease course and may point to targeted therapies. © SSIEM and Springer 2011.
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1007/s10545-011-9421-6" target="_blank" rel="noreferrer noopener">10.1007/s10545-011-9421-6</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).
2012
Adams H
Augustine E F
Behavior
characteristics
Cialone J
De Blieck E A
Dure L S
Journal Of Inherited Metabolic Disease
Kwon J M
Levy E
Marshall F J
Mink J W
NCL3
Newhouse N
Ramirez-Montealegre D
Rose K R
tone and motor
Trajectory
Vierhile 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
Treatment of Symptoms in Children with Q3 Conditions Scoping Review Results
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.
URL Address
<a href="http://doi.org/10.1212/WNL.0b013e318237f649" target="_blank" rel="noreferrer noopener">http://doi.org/10.1212/WNL.0b013e318237f649</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
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Quantifying physical decline in juvenile neuronal ceroid lipofuscinosis (Batten disease)
Publisher
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Neurology
Date
A point or period of time associated with an event in the lifecycle of the resource
2011
Subject
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Cross-Sectional Studies; Disease Progression; Young Adult; Child; Humans; Adult; Prospective Studies; Adolescent; Child Preschool; Regression Analysis; Reproducibility of Results; Analysis of Variance; Neuropsychological Tests; Mutation; Disabled Persons; Genotype; Homozygote; Membrane Glycoproteins; Molecular Chaperones; Neuronal Ceroid-Lipofuscinoses; tone and motor problems; NCL3; tool development; scale development; UBDRS
Creator
An entity primarily responsible for making the resource
Kwon J M; Adams H; Rothberg P G; Augustine E F; Marshall F J; Deblieck E A; Vierhile A; Beck C A; Newhouse N J; Cialone J; Levy E; Ramirez-Montealegre D; Dure L S; Rose K R; Mink J W
Description
An account of the resource
OBJECTIVE: To use the Unified Batten Disease Rating Scale (UBDRS) to measure the rate of decline in physical and functional capability domains in patients with juvenile neuronal ceroid lipofuscinosis (JNCL) or Batten disease, a neurodegenerative lysosomal storage disorder. We have evaluated the UBDRS in subjects with JNCL since 2002; during that time, the scale has been refined to improve reliability and validity. Now that therapies are being proposed to prevent, slow, or reverse the course of JNCL, the UBDRS will play an important role in quantitatively assessing clinical outcomes in research trials. METHODS: We administered the UBDRS to 82 subjects with JNCL genetically confirmed by CLN3 mutational analysis. Forty-four subjects were seen for more than one annual visit. From these data, the rate of physical impairment over time was quantified using multivariate linear regression and repeated-measures analysis. RESULTS: The UBDRS Physical Impairment subscale shows worsening over time that proceeds at a quantifiable linear rate in the years following initial onset of clinical symptoms. This deterioration correlates with functional capability and is not influenced by CLN3 genotype. CONCLUSION: The UBDRS is a reliable and valid instrument that measures clinical progression in JNCL. Our data support the use of the UBDRS to quantify the rate of progression of physical impairment in subjects with JNCL in clinical trials.
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1212/WNL.0b013e318237f649" target="_blank" rel="noreferrer noopener">10.1212/WNL.0b013e318237f649</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).
2011
Adams H
Adolescent
Adult
Analysis of Variance
Augustine E F
Beck C A
Child
Child Preschool
Cialone J
Cross-sectional Studies
Deblieck E A
Disabled Persons
Disease Progression
Dure L S
Genotype
Homozygote
Humans
Kwon J M
Levy E
Marshall F J
Membrane Glycoproteins
Mink J W
Molecular Chaperones
Mutation
NCL3
Neurology
Neuronal Ceroid-Lipofuscinoses
Neuropsychological Tests
Newhouse N J
Prospective Studies
Ramirez-Montealegre D
Regression Analysis
Reproducibility of Results
Rose K R
Rothberg P G
scale development
tone and motor problems
tool development
UBDRS
Vierhile A
Young Adult