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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
A name given to the resource
Treatment of Symptoms in Children with Q3 Conditions Scoping Review Results
Text
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URL Address
<a href="http://doi.org/10.1016/j.brs.2016.07.009" target="_blank" rel="noreferrer noopener">http://doi.org/10.1016/j.brs.2016.07.009</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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Deep Brain Stimulation in Rare Inherited Dystonias
Publisher
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Brain Stimulation
Date
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2016
Subject
The topic of the resource
adolescent; clinical assessment; disease duration; time to treatment; dystonic disorder/su [Surgery]; priority journal; follow up; school child; outcome assessment; Dystonia; clinical effectiveness; gabapentin/dt [Drug Therapy]; human; article; child; adult; clinical article; aged; surgery; middle aged; disease severity; dystonia; phenotype; rating scale; ataxia telangiectasia/di [Diagnosis]; ataxia telangiectasia/dt [Drug Therapy]; atypical dopa responsive dystonia/di [Diagnosis]; atypical dopa responsive dystonia/dt [Drug Therapy]; baclofen/dt [Drug Therapy]; benzodiazepine derivative/dt [Drug Therapy]; brain depth stimulation; Burke Fahn Marsden Dystonia Rating Scale; cerebellar ataxia/di [Diagnosis]; cerebellar ataxia/dt [Drug Therapy]; chorea/di [Diagnosis]; chorea/dt [Drug Therapy]; clobazam/dt [Drug Therapy]; clonazepam/dt [Drug Therapy]; Deep brain stimulation; diazepam/dt [Drug Therapy]; dystonia/di [Diagnosis]; dystonia/dt [Drug Therapy]; dystonic disorder/th [Therapy]; entacapone/cb [Drug Combination]; entacapone/dt [Drug Therapy]; escitalopram/dt [Drug Therapy]; extrapyramidal syndrome/di [Diagnosis]; extrapyramidal syndrome/dt [Drug Therapy]; haloperidol/dt [Drug Therapy]; Inherited dystonia; levodopa/dt [Drug Therapy]; lorazepam/dt [Drug Therapy]; methylmalonic aciduria/di [Diagnosis]; methylmalonic aciduria/dt [Drug Therapy]; mirtazapine/dt [Drug Therapy]; motor dysfunction assessment; nemaline myopathy/di [Diagnosis]; nemaline myopathy/dt [Drug Therapy]; neuronal ceroid lipofuscinosis/di [Diagnosis]; neuronal ceroid lipofuscinosis/dt [Drug Therapy]; olanzapine/dt [Drug Therapy]; pramipexole/cb [Drug Combination]; pramipexole/dt [Drug Therapy]; preoperative care; risperidone/dt [Drug Therapy]; selegiline/cb [Drug Combination]; selegiline/dt [Drug Therapy]; tetrabenazine/dt [Drug Therapy]; therapy effect; tizanidine/dt [Drug Therapy]; trazodone/dt [Drug Therapy]; Treatment; trihexyphenidyl/cb [Drug Combination]; trihexyphenidyl/dt [Drug Therapy]; trisomy/di [Diagnosis]; trisomy/dt [Drug Therapy]; Wilson disease/di [Diagnosis]; Wilson disease/dt [Drug Therapy]; woodhouse sakati syndrome/di [Diagnosis]; woodhouse sakati syndrome/dt [Drug Therapy]; x trisomy/di [Diagnosis]; x trisomy/dt [Drug Therapy]; tone and motor problems; ataxia telangiectasia; MCM deficiency; NCL; Nemaline myopathy; surgical intervention; Deep Brain Stimulation
Creator
An entity primarily responsible for making the resource
Beaulieu-Boire I; Aquino C C; Fasano A; Poon Y Y; Fallis M; Lang A E; Hodaie M; Kalia S K; Lozano A; Moro E
Description
An account of the resource
Background Rare causes of inherited movement disorders often present with a debilitating phenotype of dystonia, sometimes combined with parkinsonism and other neurological signs. Since these disorders are often resistant to medications, DBS may be considered as a possible treatment. Methods Patients with identified genetic diseases (ataxia-telangiectasia, chorea-achantocytosis, dopa-responsive dystonia, congenital nemaline myopathy, methylmalonic aciduria, neuronal ceroid lipofuscinosis, spinocerebellar ataxia types 2 and 3, Wilson's disease, Woodhouse-Sakati syndrome, methylmalonic aciduria, and X trisomy) and disabling dystonia underwent bilateral GPi DBS (bilateral thalamic Vim nucleus in 1 case). The primary outcome was the difference in the Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS) between baseline, 1 year and last available follow-up. Preoperative factors such as age at surgery, disease duration at surgery, proportion of life lived with dystonia and severity of dystonia were correlated to the primary outcome. Results Eleven patients were operated between February 2003 and December 2013. Age and duration of disease at time of surgery were 30+/-19 and 12.5+/-15.7 years, respectively. DBS effects on dystonia severity were variable but overall marginally effective, with a mean improvement of 7.9% (p=0.39) at 1-year follow-up and 16.7% (p=0.46) at last follow-up (mean 47.3+/-19.9 months after surgery). No preoperative factors were identified to predict the surgical outcome. Conclusion Our findings support the current knowledge that DBS is modestly effective in treating rare inherited dystonias with a combined phenotype. However, the BFMDRS might not be the best tool to measure outcome in these severely affected patients. Copyright © 2016 Elsevier Inc.
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1016/j.brs.2016.07.009" target="_blank" rel="noreferrer noopener">10.1016/j.brs.2016.07.009</a>
Rights
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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).
2016
Adolescent
Adult
Aged
Aquino C C
Article
ataxia telangiectasia
ataxia telangiectasia/di [Diagnosis]
ataxia telangiectasia/dt [Drug Therapy]
atypical dopa responsive dystonia/di [Diagnosis]
atypical dopa responsive dystonia/dt [Drug Therapy]
Baclofen/dt [drug Therapy]
Beaulieu-Boire I
benzodiazepine derivative/dt [Drug Therapy]
Brain Depth Stimulation
Brain Stimulation
Burke Fahn Marsden Dystonia Rating Scale
cerebellar ataxia/di [Diagnosis]
cerebellar ataxia/dt [Drug Therapy]
Child
chorea/di [Diagnosis]
chorea/dt [Drug Therapy]
Clinical Article
clinical assessment
Clinical Effectiveness
clobazam/dt [Drug Therapy]
clonazepam/dt [Drug Therapy]
deep brain stimulation
diazepam/dt [Drug Therapy]
disease duration
Disease Severity
Dystonia
dystonia/di [Diagnosis]
dystonia/dt [Drug Therapy]
Dystonic Disorder/su [surgery]
dystonic disorder/th [Therapy]
entacapone/cb [Drug Combination]
entacapone/dt [Drug Therapy]
escitalopram/dt [Drug Therapy]
extrapyramidal syndrome/di [Diagnosis]
extrapyramidal syndrome/dt [Drug Therapy]
Fallis M
Fasano A
Follow Up
gabapentin/dt [Drug Therapy]
haloperidol/dt [Drug Therapy]
Hodaie M
Human
Inherited dystonia
Kalia S K
Lang A E
levodopa/dt [Drug Therapy]
lorazepam/dt [Drug Therapy]
Lozano A
MCM deficiency
methylmalonic aciduria/di [Diagnosis]
methylmalonic aciduria/dt [Drug Therapy]
Middle Aged
mirtazapine/dt [Drug Therapy]
Moro E
motor dysfunction assessment
NCL
Nemaline myopathy
nemaline myopathy/di [Diagnosis]
nemaline myopathy/dt [Drug Therapy]
neuronal ceroid lipofuscinosis/di [Diagnosis]
neuronal ceroid lipofuscinosis/dt [Drug Therapy]
olanzapine/dt [Drug Therapy]
outcome assessment
Phenotype
Poon Y Y
pramipexole/cb [Drug Combination]
pramipexole/dt [Drug Therapy]
Preoperative Care
Priority Journal
Rating Scale
risperidone/dt [Drug Therapy]
School Child
selegiline/cb [Drug Combination]
selegiline/dt [Drug Therapy]
Surgery
surgical intervention
tetrabenazine/dt [Drug Therapy]
therapy effect
time to treatment
tizanidine/dt [Drug Therapy]
tone and motor problems
trazodone/dt [Drug Therapy]
Treatment
trihexyphenidyl/cb [Drug Combination]
trihexyphenidyl/dt [Drug Therapy]
Trisomy/di [diagnosis]
trisomy/dt [Drug Therapy]
Wilson disease/di [Diagnosis]
Wilson disease/dt [Drug Therapy]
woodhouse sakati syndrome/di [Diagnosis]
woodhouse sakati syndrome/dt [Drug Therapy]
x trisomy/di [Diagnosis]
x trisomy/dt [Drug Therapy]