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40
6
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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/10.1002/mds.22595" target="_blank" rel="noreferrer noopener">http://doi.org/10.1002/mds.22595</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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Evolution of Stereotypies in Adolescents and Women with Rett Syndrome
Publisher
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Movement Disorders
Date
A point or period of time associated with an event in the lifecycle of the resource
2009
Subject
The topic of the resource
Neurosciences & Neurology; Rett syndrome; hand stereotypies; retardation; movement-disorders; adult age; movement disorder; tone and motor problems; trajectory; characteristics; stereotypy
Creator
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Vignoli A; La Briola F; Canevini M P
Description
An account of the resource
Stereotypies in Rett syndrome (RTT) are a diagnostic hallmark present in all stages of the disease, but descriptions of movement disorders in adults are very scant. Among 30 patients with RTT followed-up at San Paolo Hospital in Milan, we selected those aged >= 14 years and studied 12 patients (mean age 18.6 years, range: 14-31) with MECP2 mutations. Mean age at stereotypies onset was 19.4 months; stereotypies at onset tend to be maintained during evolution, while new stereotyped movements can be detected in the follow-up. All patients still present stereotypies involving separated or joined hands: most frequently mouthing, pill rolling, and twisting. We underline that stereotyped movements persist in older patients and can be useful to suspect RTT diagnosis in adult age in otherwise unclassified patients. (C) 2009 Movement Disorder Society
Identifier
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<a href="http://doi.org/10.1002/mds.22595" target="_blank" rel="noreferrer noopener">10.1002/mds.22595</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).
2009
adult age
Canevini M P
characteristics
hand stereotypies
La Briola F
movement disorder
Movement Disorders
movement-disorders
Neurosciences & Neurology
retardation
Rett syndrome
stereotypy
tone and motor problems
Trajectory
Vignoli 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
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.25057" target="_blank" rel="noreferrer noopener">http://doi.org/10.1002/mds.25057</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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Hand stereotypies distinguish Rett syndrome from autism disorder
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
2012
Subject
The topic of the resource
children; Neurosciences & Neurology; childhood; Rett syndrome; autism; mecp2; movements; hand stereotypies; motor stereotypies; stereotypies; developmental disorders; tone and motor problems; trajectory; characteristics; mouthing
Creator
An entity primarily responsible for making the resource
Goldman S; Temudo T
Description
An account of the resource
Background: Rett syndrome (RTT) and autism disorder (AD) are 2 neurodevelopmental disorders of early life that share phenotypic features, one being hand stereotypies. Distinguishing RTT from AD often represents a challenge, and given their distinct long-term prognoses, this issue may have far-reaching implications. With the advances in genetic testing, the contribution of clinical manifestations in distinguishing RTT from AD has been overlooked. Methods: A comparison of hand stereotypies in 20 children with RTT and 20 with AD was performed using detailed analyses of videotaped standardized observations. Results: Striking differences are observed between RTT and AD children. In RTT, hand stereotypies are predominantly complex, continuous, localized to the body midline, and involving mouthing. Conversely, in AD children, hand stereotypies are simple, bilateral, intermittent, and often involving objects. Conclusions: These results provide important clinical signs useful to the differential diagnosis of RTT versus AD, especially when genetic testing for RTT is not an option. (c) 2012 Movement Disorder Society
Identifier
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<a href="http://doi.org/10.1002/mds.25057" target="_blank" rel="noreferrer noopener">10.1002/mds.25057</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).
2012
Autism
characteristics
childhood
Children
Developmental disorders
Goldman S
hand stereotypies
mecp2
motor stereotypies
mouthing
Movement Disorders
movements
Neurosciences & Neurology
Rett syndrome
stereotypies
Temudo T
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/10.1016/j.pediatrneurol.2017.05.025" target="_blank" rel="noreferrer noopener">http://doi.org/10.1016/j.pediatrneurol.2017.05.025</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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Defining Hand Stereotypies in Rett Syndrome: A Movement Disorders Perspective
Publisher
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Pediatric Neurology
Date
A point or period of time associated with an event in the lifecycle of the resource
2017
Subject
The topic of the resource
Pediatrics; definitions; Neurosciences & Neurology; Rett syndrome; girls; autism; actigraphy; hand stereotypies; operational; regression; video analysis; tone and motor problems; tool development; scale development; hand stereotypies
Creator
An entity primarily responsible for making the resource
Dy M E; Waugh J L; Sharma N; O'Leary H; Kapur K; D'Gama A M; Sahin M; Urion D K; Kaufmann W E
Description
An account of the resource
INTRODUCTION: Hand stereotypies (HS) are a primary diagnostic criterion for Rett syndrome (WIT) but are difficult to characterize and quantify systematically. METHODS: We collected video on 27 girls (2-12 years of age) with classic RTT who participated in a mecasermin trial. The present study focused exclusively on video analyses, by reviewing two five-minute windows per subject to identify the two most common HS. Three raters with expertise in movement disorders independently rated the five-minute windows using standardized terminology to determine the level of agreement. We iteratively refined the protocol in three stages to improve descriptive accuracy, categorizing HS as "central" or "peripheral," "simple" or "complex," scoring each hand separately. Inter-rater agreement was analyzed using Kappa statistics. RESULTS: In the initial protocol evaluating HS by video, inter-rater agreement was 20.7%. In the final protocol, inter-rater agreement for the two most frequent HS was higher than the initial protocol at 50%. CONCLUSION: Phenotypic variability makes standardized evaluation of HS in RTT a challenge; we achieved only 50% level of agreement and only for the most frequent HS. Therefore, objective measures are needed to evaluate HS.
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1016/j.pediatrneurol.2017.05.025" target="_blank" rel="noreferrer noopener">10.1016/j.pediatrneurol.2017.05.025</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).
2017
Actigraphy
Autism
D'Gama A M
definitions
Dy M E
girls
hand stereotypies
Kapur K
Kaufmann W E
Neurosciences & Neurology
O'Leary H
operational
Pediatric Neurology
Pediatrics
Regression
Rett syndrome
Sahin M
scale development
Sharma N
tone and motor problems
tool development
Urion D K
video analysis
Waugh J L
-
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/10.1007/s10882-016-9478-0" target="_blank" rel="noreferrer noopener">http://doi.org/10.1007/s10882-016-9478-0</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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Direct Observation of the Behaviour of Females with Rett Syndrome
Publisher
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Journal of Developmental and Physical Disabilities
Date
A point or period of time associated with an event in the lifecycle of the resource
2016
Subject
The topic of the resource
behavior; breathing difficulties; tone and motor problems; Rett syndrome; trajectory; characteristics; hand stereotypies; stereotypy; self-injury
Creator
An entity primarily responsible for making the resource
Cianfaglione R; Meek A; Clarke A; Kerr M; Hastings R P; Felce D
Description
An account of the resource
The aim was to observe the behaviour of a sample of females with RTT and explore how it was organized in relation to environmental events. Ten participants, all with a less severe form of classic (n = 9) or atypical (n = 1) Rett syndrome (RTT), were filmed at home and at school or day centre. Analysis used real-time data capture software. Observational categories distinguished engagement in social and non-social pursuits, hand stereotypies, self-injury and the receipt of attention from a parent, teacher or carer. Associations between participant behaviour and intake variables and receipt of attention were explored. Concurrent and lagged conditional probabilities between behavioural categories and receipt of attention were calculated. Receipt of adult attention was high. Engagement in activity using the hands was associated with a less severe condition and greater developmental age. Engagement in activity, whether using the hands or not, and social engagement were positively associated with receipt of support. The extent of hand stereotypies varied greatly across participants but was independent of environmental events. Six participants self-injured. There was some evidence that self-injury was related to adult attention. Participants appeared to experience a carer and attention rich environment and their levels of engagement seemed high as a result. As in the more general literature, engagement in activity was related to personal development and to social support. Self-injury contrasted with hand stereotypies in having possible environmental function.
Identifier
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<a href="http://doi.org/10.1007/s10882-016-9478-0" target="_blank" rel="noreferrer noopener">10.1007/s10882-016-9478-0</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
Behavior
breathing difficulties
characteristics
Cianfaglione R
Clarke A
Felce D
hand stereotypies
Hastings R P
Journal of Developmental and Physical Disabilities
Kerr M
Meek A
Rett syndrome
self-injury
stereotypy
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
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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/10.1186/s11689-015-9104-y" target="_blank" rel="noreferrer noopener">http://doi.org/10.1186/s11689-015-9104-y</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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A national survey of Rett syndrome: behavioural characteristics
Publisher
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Journal of Neurodevelopmental Disorders
Date
A point or period of time associated with an event in the lifecycle of the resource
2015
Subject
The topic of the resource
behavior; breathing difficulties; tone and motor problems; Rett syndrome; trajectory; characteristics; hand stereotypies; stereotypy; breathing problems; sleep problems; anxiety; inappropriate fear
Creator
An entity primarily responsible for making the resource
Cianfaglione R; Clarke A; Kerr M; Hastings R P; Oliver C; Moss J; Heald M; Felce D
Description
An account of the resource
BACKGROUND: The aim was to gain a UK national sample of people with Rett syndrome (RTT) across the age range and compare their characteristics using a variety of relevant behavioural measures with a well-chosen contrast group. METHODS: The achieved sample was 91 girls and women, aged from 4 to 47 years, of whom 71 were known to be MECP2 positive. The contrast group (n = 66), matched for age, gender, language and self-help skills, comprised individuals with six other syndromes associated with intellectual disability. Parental questionnaire measures of RTT specific characteristics, impulsivity, overactivity, mood, interest and pleasure, repetitive behaviour and self-injury were administered. RESULTS: Hand stereotypies, breathing irregularities, night-time unrest and anxiety or inappropriate fear were commonly reported among the RTT sample. Problems of low mood were also reported as common. However, mood and interest and pleasure were no lower than found in the contrast group. In addition, self-injury was lower than in the contrast group and was associated with factors found to predict self-injury in other groups of people with severe intellectual disabilities. CONCLUSIONS: There is variability in the manifestation of problem behaviours potentially associated with the syndrome across individuals, with some more severely affected in most areas than others. Some of this variability appears to be underpinned by genetic mutation.
Identifier
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<a href="http://doi.org/10.1186/s11689-015-9104-y" target="_blank" rel="noreferrer noopener">10.1186/s11689-015-9104-y</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).
2015
anxiety
Behavior
breathing difficulties
breathing problems
characteristics
Cianfaglione R
Clarke A
Felce D
hand stereotypies
Hastings R P
Heald M
inappropriate fear
Journal of Neurodevelopmental Disorders
Kerr M
Moss J
Oliver C
Rett syndrome
sleep problems
stereotypy
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
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Stereotypical Hand Movements in 144 Subjects with Rett Syndrome from the Population-Based Australian Database
Publisher
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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
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<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