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Dublin Core
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Title
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Treatment of Symptoms in Children with Q3 Conditions Scoping Review Results
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<a href="http://doi.org/10.1016/j.jns.2006.05.054" target="_blank" rel="noreferrer noopener">http://doi.org/10.1016/j.jns.2006.05.054</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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Niemann-Pick C disease in Spain: clinical spectrum and development of a disability scale
Publisher
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Journal of the Neurological Sciences
Date
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2006
Subject
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Adolescent; Adult; Age of Onset; Carrier Proteins/ge [Genetics]; Cerebellar Ataxia/di [Diagnosis]; Cerebellar Ataxia/ep [Epidemiology]; Cerebellar Diseases/di [Diagnosis]; Cerebellar Diseases/ep [Epidemiology]; Child; Preschool; Comorbidity; Disability; Evaluation; Dysarthria/di [Diagnosis]; Dysarthria/ep [Epidemiology]; Female; Genetic Predisposition to Disease/ge [Genetics]; Infant; feeding difficulties; sleep disturbance; tone and motor problems; NPC; tool development; scale development
Creator
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Iturriaga C; Pineda M; Fernandez-Valero E M; Vanier M T; Coll M J
Description
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OBJECTIVES: To describe the clinical evolution of Niemann-Pick C disease to identify possible factors involved in the diagnosis and severity of the disease. METHODS: A clinical database and a severity scale was created to evaluate 45 patients diagnosed with Niemann-Pick type C in the last 28 years in Spain. RESULTS: Complete clinical data were obtained from 30 patients, all were confirmed to have mutations in the NPC1 gene. Regarding clinical form, 3 were perinatal, 7 severe infantile, 6 late infantile, 11 juvenile and 3 adult. Biochemical phenotype was classic in 26. Splenomegaly was present in 28 patients (93%) with a wide range of age at detection. The first symptom of neurological disease was clumsiness, followed in 2-4 years by cerebellar signs. Ophthalmoplegia appeared 2-4 years later and became complete 1-2 years after onset. Dysarthria appeared by the time of complete ophthalmoplegia. Diagnosis was made before the onset of neurological signs in patients with the severe infantile form, at the time of onset of cerebellar signs in the late infantile form and complete ophthalmoplegia in late onset forms. CONCLUSIONS: In our series, splenomegaly is present in 96% of patients, even in late onset forms during the first years of life. Clumsiness in children with otherwise normal motor development precedes the onset of ataxia by 2-4 years in Niemann Pick type C. A disability scale could be useful for monitoring evolution, establishing possible phenotypic correlations and evaluating future therapies.
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<a href="http://doi.org/10.1016/j.jns.2006.05.054" target="_blank" rel="noreferrer noopener">10.1016/j.jns.2006.05.054</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).
2006
Adolescent
Adult
Age of Onset
Carrier Proteins/ge [Genetics]
cerebellar ataxia/di [Diagnosis]
Cerebellar Ataxia/ep [Epidemiology]
Cerebellar Diseases/di [Diagnosis]
Cerebellar Diseases/ep [Epidemiology]
Child
Coll M J
Comorbidity
Disability
Dysarthria/di [Diagnosis]
Dysarthria/ep [Epidemiology]
Evaluation
feeding difficulties
Female
Fernandez-Valero E M
Genetic Predisposition to Disease/ge [Genetics]
Infant
Iturriaga C
Journal Of The Neurological Sciences
NPC
Pineda M
Preschool
scale development
sleep disturbance
tone and motor problems
tool development
Vanier M T