1
40
2
-
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/10.1002/mds.22115" target="_blank" rel="noreferrer noopener">http://doi.org/10.1002/mds.22115</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
Movement disorders in Rett syndrome: An analysis of 60 patients with detected MECP2 mutation and correlation with mutation type
Publisher
An entity responsible for making the resource available
Movement Disorders
Date
A point or period of time associated with an event in the lifecycle of the resource
2008
Subject
The topic of the resource
Neurosciences & Neurology; dystonia; Rett syndrome; females; rigidity; stereotypies; chorea; Parkinson; tremor; tone and motor problems; trajectory; characteristics; movement disorders
Creator
An entity primarily responsible for making the resource
Temudo T; Ramos E; Dias K; Barbot C; Vieira J P; Moreira A; Calado E; Carrilho I; Oliveira G; Levy A; Fonseca M; Cabral A; Cabral P; Monteiro J P; Borges L; Gomes R; Santos M; Sequeiros J; Maciel P
Description
An account of the resource
Rett syndrome (RS) is one of the best human models to study movement disorders. Patients evolve from a hyperkinetic to a hypokinetic state, and a large series of abnormal movements may be observed along their lives Such as stereotypies, tremor, chorea, myoclonus. ataxia, dystonia, and rigidity. The aim of this work was to analyze movement disorders in RS patients with a detected MECP2 mutation, as well as their correlation with genotype, in a clinically and genetically well-characterized sample of patients, and thus Contribute to redefine the clinical profile of this disease. In this study, we included 60 patients with detected MECP2 mutations. These were categorized and grouped for analysis, according to (1) type of change (missense or truncating. including nonsense and frameshift but also large deletions) and (2) location of the mutation. Differences were found concerning the frequency of independent gait. dystonia, type of tremor. and global score severity when comparing the group of patient S with missense and truncating, Mutations. We also found differences in the presence. distribution, severity, or type of movement disorders in the two groups of patients according to the median duration of the disease (less than 60 months: 60 months or more). We conclude that movement disorders seem to reflect the severity and rate of progression of Rett disorder, patients with truncating mutations presenting a higher rate and more severe dystonia and rigid-akinetic syndrome. when comparing groups with similar time of disease evolution. (C) 2008 Movement Disorder Society.
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1002/mds.22115" target="_blank" rel="noreferrer noopener">10.1002/mds.22115</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).
2008
Barbot C
Borges L
Cabral A
Cabral P
Calado E
Carrilho I
characteristics
CHOREA
Dias K
Dystonia
females
Fonseca M
Gomes R
Levy A
Maciel P
Monteiro J P
Moreira A
Movement Disorders
Neurosciences & Neurology
Oliveira G
Parkinson
Ramos E
Rett syndrome
rigidity
Santos M
Sequeiros J
stereotypies
Temudo T
tone and motor problems
Trajectory
tremor
Vieira J P
-
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/10.1212/01.wnl.0000259086.34769.78" target="_blank" rel="noreferrer noopener">http://doi.org/10.1212/01.wnl.0000259086.34769.78</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
Stereotypies in Rett syndrome - Analysis of 83 patients with and without detected MECP2 mutations
Publisher
An entity responsible for making the resource available
Neurology
Date
A point or period of time associated with an event in the lifecycle of the resource
2007
Subject
The topic of the resource
Neurosciences & Neurology; behaviors; hand movements; regression; normal human infants; stage; tone and motor problems; Rett syndrome; trajectory; characteristics; hair pulling; stereotypy
Creator
An entity primarily responsible for making the resource
Temudo T; Oliveira P; Santos M; Dias K; Vieira J; Moreira A; Calado E; Carrilho I; Oliveira G; Levy A; Barbot C; Fonseca M; Cabral A; Dias A; Cabral P; Monteiro J; Borges L; Gomes R; Barbosa C; Mira G; Eusebio F; Sequeiros J; Maciel P
Description
An account of the resource
Background: Hand stereotypies are considered a hallmark of Rett syndrome (RTT) and are usually described as symmetric movements at the midline. However, related pathologies may show the same type of involuntary movement. Furthermore, patients with RTT also have stereotypies with other localizations that are less well characterized. Methods: We analyzed stereotypies in 83 patients with RTT, 53 with and 30 without a mutation detected in the MECP2 gene. Patients were observed and videotaped always by the same pediatric neurologist. Stereotypies were classified, and data were submitted to statistical analysis for comparison of mutation-positive and -negative patients and analysis of their evolution with the disease. Results: All the patients showed hand stereotypies that coincided with or preceded the loss of purposeful hand movements in 62% of the patients with MECP2 mutations. The hair pulling stereotypy was more frequent in the group with detected mutations, whereas hand washing was not. Hand gaze was absent in all RTT patients with MECP2 mutations. Patients with MECP2 mutations also had more varied stereotypies, and the number of stereotypies displayed by each patient decreased significantly with age in this group. In all patients, stereotypies other than manual tended to disappear with the evolution of the disease. Conclusions: Although symmetric midline hand stereotypies were not specific to patients with an MECP2 mutation, some of the other stereotypies seemed to be more characteristic of this group. In patients younger than 10 years and meeting the necessary diagnostic criteria of Rett syndrome, the association of hand stereotypies without hand gaze, bruxism, and two or more of the other stereotypies seemed to be highly indicative of the presence of an MECP2 mutation.
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1212/01.wnl.0000259086.34769.78" target="_blank" rel="noreferrer noopener">10.1212/01.wnl.0000259086.34769.78</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).
2007
Barbosa C
Barbot C
behaviors
Borges L
Cabral A
Cabral P
Calado E
Carrilho I
characteristics
Dias A
Dias K
Eusebio F
Fonseca M
Gomes R
hair pulling
hand movements
Levy A
Maciel P
Mira G
Monteiro J
Moreira A
Neurology
Neurosciences & Neurology
normal human infants
Oliveira G
Oliveira P
Regression
Rett syndrome
Santos M
Sequeiros J
stage
stereotypy
Temudo T
tone and motor problems
Trajectory
Vieira J