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40
5
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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
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/10.1177/0883073811402688" target="_blank" rel="noreferrer noopener">http://doi.org/10.1177/0883073811402688</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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Change in gross motor abilities of girls and women with rett syndrome over a 3- to 4-year period
Publisher
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Journal of Child Neurology
Date
A point or period of time associated with an event in the lifecycle of the resource
2011
Subject
The topic of the resource
Age Factors; Disease Progression; Young Adult; Humans; Longitudinal Studies; Adult; Adolescent; Female; Retrospective Studies; Australia; Linear Models; Mutation/genetics; Methyl-CpG-Binding Protein 2/genetics; Arginine/genetics; Motor Skills/physiology; Movement Disorders/etiology/genetics; Rett Syndrome/complications/genetics; tone and motor problems; Rett syndrome; trajectory; characteristics
Creator
An entity primarily responsible for making the resource
Foley K R; Downs J; Bebbington A; Jacoby P; Girdler S; Kaufmann W E; Leonard H
Description
An account of the resource
Rett syndrome is a rare but severe neurological disorder typically associated with a mutation in the MECP2 gene. We describe change in gross motor function over 3 to 4 years for 70 subjects participating in the Australian Rett Syndrome Database. Linear regression was used to assess relationships with age, genotype, and general and complex gross motor skills scores measured on the Gross Motor Scale for Rett syndrome. Skills were slightly better or maintained in approximately 40% of subjects and slightly decreased in approximately 60%. Teenagers and women who walked in 2004 were less likely to lose complex skills than those younger. Girls with a p.R294X mutation were more likely to lose complex motor skills, otherwise skill changes were spread across the mutation categories. In conclusion, small changes were observed over this period with greater stability of skills in teenagers and women with the ability to walk.
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1177/0883073811402688" target="_blank" rel="noreferrer noopener">10.1177/0883073811402688</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
Adolescent
Adult
Age Factors
Arginine/genetics
Australia
Bebbington A
characteristics
Disease Progression
Downs J
Female
Foley K R
Girdler S
Humans
Jacoby P
Journal of Child Neurology
Kaufmann W E
Leonard H
Linear Models
Longitudinal Studies
Methyl-CpG-Binding Protein 2/genetics
Motor Skills/physiology
Movement Disorders/etiology/genetics
Mutation/genetics
Retrospective Studies
Rett syndrome
Rett Syndrome/complications/genetics
tone and motor problems
Trajectory
Young Adult
-
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/10.1111/j.1469-8749.2010.03636.x" target="_blank" rel="noreferrer noopener">http://doi.org/10.1111/j.1469-8749.2010.03636.x</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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Level of purposeful hand function as a marker of clinical severity in Rett syndrome
Publisher
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Developmental Medicine and Child Neurology
Date
A point or period of time associated with an event in the lifecycle of the resource
2010
Subject
The topic of the resource
Cross-Sectional Studies; Age Factors; Severity of Illness Index; Young Adult; Child; Humans; Adult; Adolescent; Female; Child Preschool; Phenotype; Video Recording; Mutation; Registries; Genotype; Motor Activity; Databases as Topic; Walking; Rett Syndrome; Methyl-CpG-Binding Protein 2; Hand; tone and motor problems; trajectory; characteristics
Creator
An entity primarily responsible for making the resource
Downs J; Bebbington A; Jacoby P; Williams A; Ghosh S; Kaufmann W E; Leonard H
Description
An account of the resource
AIM: We investigated relationships between hand function and genotype and aspects of phenotype in Rett syndrome. METHOD: Video assessment in naturalistic settings was supplemented by parent-reported data in a cross-sectional study of 144 females with a mean age of 14 years 10 months (SD 7 y 10 mo; range 2 y-31 y 10 mo), 110 of whom had a mutation of the methyl CpG binding protein 2 (MECP2) gene. Ordinal logistic regression was used to assess relationships between hand function and MECP2 mutation, age, a modified Kerr score, Functional Independence Measure for Children (WeeFIM), ambulation level, and frequency of hand stereotypies. RESULTS: Approximately two-thirds of participants demonstrated purposeful hand function, ranging from simple grasping skills to picking up and manipulating small objects. In participants with a confirmed MECP2 mutation, those with the p.R168X mutation had the poorest hand function on multivariate analysis with C-terminal deletion as the baseline (odds ratio [OR] 0.19; 95% confidence interval [CI] 0.04-0.95), whereas those with the p.R133C or p.R294X mutation had better hand function. Participants aged 19 years or older had lower hand function than those aged less than 8 years (OR 0.36; 95% CI 0.14-0.92). Factors that were associated with better hand function were lower Kerr scores for a 1-point increase in score (OR 0.77; 95% CI 0.69-0.86), higher WeeFIM scores for a 1-point increase in score (OR 1.08; 95% CI 1.04-1.12), and greater ambulation than those completely dependent on carers for mobility (OR 22.64; 95% CI 7.02-73.08). The results for participants with a confirmed pathogenic mutation were similar to results obtained when participants without a mutation were also included. INTERPRETATION: Our novel assessment of hand function in Rett syndrome correlated well with known profiles of common MECP2 mutations and overall clinical severity. This promising assessment could measure clinical responses to therapy.
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1111/j.1469-8749.2010.03636.x" target="_blank" rel="noreferrer noopener">10.1111/j.1469-8749.2010.03636.x</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).
2010
Adolescent
Adult
Age Factors
Bebbington A
characteristics
Child
Child Preschool
Cross-sectional Studies
Databases as Topic
Developmental Medicine and Child Neurology
Downs J
Female
Genotype
Ghosh S
Hand
Humans
Jacoby P
Kaufmann W E
Leonard H
Methyl-CpG-Binding Protein 2
Motor Activity
Mutation
Phenotype
Registries
Rett syndrome
Severity Of Illness Index
tone and motor problems
Trajectory
Video Recording
Walking
Williams A
Young Adult
-
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/10.1177/0883073810381920" target="_blank" rel="noreferrer noopener">http://doi.org/10.1177/0883073810381920</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
Longitudinal Hand Function in Rett Syndrome
Publisher
An entity responsible for making the resource available
Journal of Child Neurology
Date
A point or period of time associated with an event in the lifecycle of the resource
2011
Subject
The topic of the resource
tone and motor problems; Rett syndrome; trajectory; characteristics
Creator
An entity primarily responsible for making the resource
Downs J; Bebbington A; Kaufmann W E; Leonard H
Description
An account of the resource
Loss of hand function is a core feature of Rett syndrome. This article describes longitudinal hand function at 3 time points for 72 subjects participating in the Australian Rett Syndrome Database. Approximately 40% of subjects with some grasping abilities lost skill over the 3- to 4-year period between video assessments. In these subjects, a decrease in hand function was seen less frequently in girls 13 to 19 years old than in those younger than 8 years, in subjects with some mobility compared with those who were wheelchair bound, and in those who had previously been able to finger feed. Relationships with the magnitude of change reflected these findings. Change in hand function did not vary with clinical severity. The results for all subjects were similar to results obtained when analysis was restricted to those with a pathogenic mutation. Variability in the longitudinal course of hand function in Rett syndrome was observed.
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1177/0883073810381920" target="_blank" rel="noreferrer noopener">10.1177/0883073810381920</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
Bebbington A
characteristics
Downs J
Journal of Child Neurology
Kaufmann W E
Leonard H
Rett syndrome
tone and motor problems
Trajectory
-
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/10.1055/s-0028-1104575" target="_blank" rel="noreferrer noopener">http://doi.org/10.1055/s-0028-1104575</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
Gross motor profile in rett syndrome as determined by video analysis
Publisher
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Neuropediatrics
Date
A point or period of time associated with an event in the lifecycle of the resource
2008
Subject
The topic of the resource
tone and motor problems; Rett syndrome; trajectory; characteristics
Creator
An entity primarily responsible for making the resource
Downs J A; Bebbington A; Jacoby P; Msall M E; McIlroy O; Fyfe S; Bahi-Buisson N; Kaufmann W E; Leonard H
Description
An account of the resource
Movement impairment is a fundamental but variable component of the Rett syndrome phenotype. This study used video supplemented by parent report data to describe the gross motor profile in females with Rett syndrome (n=99) and to investigate the impact of age, genotype, scoliosis and hand stereotypies. Factor analysis enabled the calculation of general and complex gross motor skills scores. Most subjects were able to sit, slightly less than half were able to walk and a minority were able to transfer without assistance. General gross motor skills declined with age and were poorer in those who had surgically treated scoliosis but not conservatively managed scoliosis. Complex gross motor skills did not decline with age and were better in those without scoliosis. Those with a p.R133C, p.R294X, or a p.R255X mutation appear to have better motor skills overall than those with a p.R270X or large deletion mutation. Motor scores were not related to the frequency of hand stereotypies. This information is useful for the clinician and family when planning support strategies and interventions.
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1055/s-0028-1104575" target="_blank" rel="noreferrer noopener">10.1055/s-0028-1104575</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
Bahi-Buisson N
Bebbington A
characteristics
Downs J A
Fyfe S
Jacoby P
Kaufmann W E
Leonard H
McIlroy O
Msall M E
Neuropediatrics
Rett syndrome
tone and motor problems
Trajectory
-
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.22851" target="_blank" rel="noreferrer noopener">http://doi.org/10.1002/mds.22851</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
Stereotypical Hand Movements in 144 Subjects with Rett Syndrome from the Population-Based Australian Database
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
2010
Subject
The topic of the resource
behavior; Neurosciences & Neurology; Rett syndrome; phenotype; mecp2 mutations; features; genotype; females; severity; hand function; video recording; stereotypic movement disorder; tone and motor problems; trajectory; characteristics; hand stereotypies
Creator
An entity primarily responsible for making the resource
Carter P; Downs J; Bebbington A; Williams S; Jacoby P; Kaufmann W E; Leonard H
Description
An account of the resource
Stereotypic hand movements are a feature of Rett Syndrome but few studies have observed their nature systematically. Video data in familiar settings were obtained on subjects (n = 144) identified from an Australian population-based database. I-land stereotypies were demonstrated by most subjects (94.4%), 15 categories were observed and midline wringing was seen in approximately 60% of subjects. There was a median of two stereotypies per subject but this number decreased with age. Clapping and mouthing of hands were more prevalent in girls younger than 8 years and wringing was more prevalent in women 19 years or older. Clapping was commoner in those with p.R306C and early truncating mutations, and much rarer in those with p.R106W, p.R270X, p.R168X. and p.R255X. Stereotypies tended to be less frequent in those with more severe mutations. Otherwise, there were no clear relationships between our categories of stereotypies and mutation. Approximately a quarter each had predominantly right and left handed stereotypies and for the remaining half, no clear laterality was seen. Results were similar for all cases and when restricted to those with a pathogenic mutation. Hand stereolypies changed with increasing age but limited relationships with MECP2 mutations were identified. (C) 2009 Movement Disorder Society
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1002/mds.22851" target="_blank" rel="noreferrer noopener">10.1002/mds.22851</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).
2010
Bebbington A
Behavior
Carter P
characteristics
Downs J
features
females
Genotype
hand function
hand stereotypies
Jacoby P
Kaufmann W E
Leonard H
mecp2 mutations
Movement Disorders
Neurosciences & Neurology
Phenotype
Rett syndrome
severity
stereotypic movement disorder
tone and motor problems
Trajectory
Video Recording
Williams S