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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
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/10.1111/1469-7610.00236" target="_blank" rel="noreferrer noopener">http://doi.org/10.1111/1469-7610.00236</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
The Rett Syndrome Behaviour Questionnaire (RSBQ): refining the behavioural phenotype of Rett syndrome
Publisher
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Journal of Child Psychology and Psychiatry
Date
A point or period of time associated with an event in the lifecycle of the resource
2002
Subject
The topic of the resource
Psychology; children; adolescents; epidemiology; diagnosis; questionnaire; Rett syndrome; behavioural phenotype; Psychiatry; mecp2 mutations; intellectual disability; mental-retardation; cpg-binding protein-2; MECP2; mental retardation; population prevalence; psychopathology; x-chromosome inactivation; behavioral problems; breathing difficulties; sleep disturbance; tone and motor problems; tool development; scale development; RSBQ
Creator
An entity primarily responsible for making the resource
Mount R H; Charman T; Hastings R P; Reilly S; Cass H
Description
An account of the resource
Background: Although physical features, including loss of hand skills, deceleration of head growth, spasticity and scoliosis, are cardinal features of Rett syndrome (RS), a number of behavioural features are also associated with the disorder, including hand stereotypies, hyperventilation and breath holding. No study has tested the specificity of these behavioural features to individuals with RS, compared to individuals with severe to profound mental retardation (SMR). Method: A novel checklist of characteristic RS behavioural and emotional features, the Rett Syndrome Behaviour Questionnaire (RSBQ), was developed to test the type and specificity of behavioural features of RS against those found in girls with SMR. Results: After controlling for the effects of RS-related physical disabilities, the RSBQ discriminated between the groups. Some aspects of the behaviours found to be specific to RS are included in the necessary or supportive RS diagnostic criteria, notably hand behaviours and breathing problems. Additional behavioural features were also more frequently reported in the RS than the SMR group, including mood fluctuations and signs of fear/anxiety, inconsolable crying and screaming at night, and repetitive mouth and tongue movements and grimacing. Conclusions: Full validation of the scale requires confirmation of its discriminatory power and reliability with independent samples of individuals with RS and SMR. Further delineation of the specific profile of behaviours seen in RS may help in identification of the function of the MECP2 gene and in improved differential diagnosis and management of individuals with RS.
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1111/1469-7610.00236" target="_blank" rel="noreferrer noopener">10.1111/1469-7610.00236</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).
2002
Adolescents
behavioral problems
behavioural phenotype
breathing difficulties
Cass H
Charman T
Children
cpg-binding protein-2
Diagnosis
Epidemiology
Hastings R P
Intellectual Disability
Journal Of Child Psychology And Psychiatry
mecp2
mecp2 mutations
Mental Retardation
mental-retardation
Mount R H
population prevalence
Psychiatry
Psychology
psychopathology
Questionnaire
Reilly S
Rett syndrome
RSBQ
scale development
sleep disturbance
tone and motor problems
tool development
x-chromosome inactivation
-
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
A name given to the resource
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
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1007/s10882-016-9478-0" target="_blank" rel="noreferrer noopener">10.1007/s10882-016-9478-0</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).
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
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/ajmg.a.37027" target="_blank" rel="noreferrer noopener">http://doi.org/10.1002/ajmg.a.37027</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
A national survey of Rett syndrome: age, clinical characteristics, current abilities, and health
Publisher
An entity responsible for making the resource available
American Journal of Medical Genetics Part A
Date
A point or period of time associated with an event in the lifecycle of the resource
2015
Subject
The topic of the resource
breathing difficulties; constipation; feeding difficulties; tone and motor problems; Rett syndrome; trajectory; characteristics; epilepsy; weight; gastrointestinal problems; bowel problems
Creator
An entity primarily responsible for making the resource
Cianfaglione R; Clarke A; Kerr M; Hastings R P; Oliver C; Felce D
Description
An account of the resource
As part of a wider study to investigate the behavioral phenotype of a national sample of girls and women with Rett syndrome (RTT) in comparison to a well-chosen contrast group and its relationship to parental well-being, the development, clinical severity, current abilities and health of 91 participants were analyzed in relation to diagnostic, clinical and genetic mutation categories. Early truncating mutations or large deletions were associated with greater severity. Early regression was also associated with greater severity. All three were associated with lower current abilities. Epilepsy and weight, gastrointestinal and bowel problems were common co-morbidities. Participants with classic RTT had greater health problems than those with atypical RTT. A substantial minority of respondents reported fairly frequent signs of possible pain experienced by their relative with RTT. Overall, the study provides new data on the current abilities and general health of people with RTT and adds to the evidence that the severity of the condition and variation of subsequent disability, albeit generally within the profound range, may be related to gene mutation. The presence of certain co-morbidities represents a substantial ongoing need for better health. The experience of pain requires further investigation.
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1002/ajmg.a.37027" target="_blank" rel="noreferrer noopener">10.1002/ajmg.a.37027</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
American Journal of Medical Genetics Part A
bowel problems
breathing difficulties
characteristics
Cianfaglione R
Clarke A
Constipation
Epilepsy
feeding difficulties
Felce D
gastrointestinal problems
Hastings R P
Kerr M
Oliver C
Rett syndrome
tone and motor problems
Trajectory
weight
-
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/10.1186/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
A name given to the resource
A national survey of Rett syndrome: behavioural characteristics
Publisher
An entity responsible for making the resource available
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
An unambiguous reference to the resource within a given context
<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