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Treatment of Symptoms in Children with Q3 Conditions Scoping Review Results
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<a href="http://doi.org/10.1017/cjn.2016.8" target="_blank" rel="noreferrer noopener">http://doi.org/10.1017/cjn.2016.8</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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The Incidence and Evolution of Parkinsonian Rigidity in Rett Syndrome: A Pilot Study
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Canadian Journal of Neurological Sciences
Date
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2016
Subject
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adolescent; age; pharmacokinetics; neck; major clinical study; priority journal; scoring system; pilot study; quantitative study; cohort analysis; cross-sectional study; dopamine; prospective study; human; article; child; female; adult; disease severity; speech; dystonia; Rett syndrome; methyl CpG binding protein 2; methyl CpG binding protein 2/ec [Endogenous Compound]; mecp2; rigidity; 5 hydroxyindoleacetic acid; ankle; cerebrospinal fluid; Dopamine; genetic susceptibility; homovanillic acid; homovanillic acid/ec [Endogenous Compound]; hva; incidence; missense mutation; mobilization; muscle rigidity; muscle tone; musculoskeletal disease assessment; parkinsonism; Rett syndrome rigidity distribution score; walking difficulty; tone and motor problems; trajectory; characteristics; rigidity
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Humphreys P; Barrowman N
Description
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Background: Patients with Rett syndrome (RTT) may demonstrate parkinsonian features. Here, we report a preliminary cross-sectional and prospective evaluation of the evolution, regional distribution, and eventual incidence of rigid tone in a cohort of MECP2 mutation-positive patients. Methods: In 51 participants, muscle tone rigidity in extremity regions and neck plus hypomimia were quantified using an RTT rigidity distribution (RTTRD) score with a range of 0 to 15. RTTRD scores were correlated with age, ability to walk and speak, mutation type, and, in a small subgroup (n=9), cerebrospinal fluid (CSF) homovanillic acid (HVA) and 5-hydroxyindole-acetic acid levels. Results: Participant ages ranged from 2 years and 5 months, to 54 years. Rigidity was found in 43/51 (84.3%); it appeared as early as age 3, increased in extent with age, and was present in all participants aged >13. Ankle region rigidity appeared first, followed by proximal legs, arms, neck, and face. Ambulatory participants (n=21) had lower RTTRD scores than nonambulatory (n=30; p=0.003). We found a trend to lower scores in participants with retained speech (n=13) versus those with none (n=38; p=0.074), and no difference in scores for those with truncating (n=25) versus missense mutations (n=22; p=0.387). RTTRD scores correlated negatively with CSF HVA levels (R=-0.83; p=0.005), but not with 5-hydroxyindole-acetic acid levels (R=-0.45; p=0.22). Conclusions: Although assessment of muscle tone is somewhat subjective and the RTTRD has not been validated, this study nevertheless suggests that parkinsonian rigidity in RTT is common and frequently increases in extent with age; its severity correlates directly with impaired ambulation and inversely with CSF HVA levels. Copyright © The Canadian Journal of Neurological Sciences Inc. 2016.
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<a href="http://doi.org/10.1017/cjn.2016.8" target="_blank" rel="noreferrer noopener">10.1017/cjn.2016.8</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).
2016
5 hydroxyindoleacetic acid
Adolescent
Adult
Age
ankle
Article
Barrowman N
Canadian Journal of Neurological Sciences
Cerebrospinal Fluid
characteristics
Child
Cohort Analysis
Cross-sectional Study
Disease Severity
Dopamine
Dystonia
Female
genetic susceptibility
homovanillic acid
homovanillic acid/ec [Endogenous Compound]
Human
Humphreys P
hva
Incidence
Major Clinical Study
mecp2
methyl CpG binding protein 2
methyl CpG binding protein 2/ec [Endogenous Compound]
missense mutation
mobilization
muscle rigidity
muscle tone
musculoskeletal disease assessment
neck
parkinsonism
Pharmacokinetics
Pilot Study
Priority Journal
Prospective Study
Quantitative Study
Rett syndrome
Rett syndrome rigidity distribution score
rigidity
scoring system
Speech
tone and motor problems
Trajectory
walking difficulty