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/10.1016/j.ridd.2017.01.006" target="_blank" rel="noreferrer noopener">http://doi.org/10.1016/j.ridd.2017.01.006</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
Incontinence and psychological symptoms in individuals with Mowat-Wilson Syndrome
Publisher
An entity responsible for making the resource available
Research in Developmental Disabilities
Date
A point or period of time associated with an event in the lifecycle of the resource
2017
Subject
The topic of the resource
children; Rehabilitation; Enuresis; Education & Educational Research; phenotype; features; urinary-incontinence; angelman-syndrome; Fecal incontinence; hirschsprungs-disease; Mowat-Wilson Syndrome; Psychopathology; Urinary incontinence; constipation; behavioral problems; bowel incontinence; trajectory; characteristics; fecal incontinence
Creator
An entity primarily responsible for making the resource
Niemczyk J; Einfeld S; Mowat D; Equit M; Wagner C; Curfs L; von Gontard A
Description
An account of the resource
Background: Mowat-Wilson Syndrome (MWS) is caused by deletion/mutation of the ZEB2 gene on chromosome 2q22. MWS is characterized by a distinctive facial appearance, severe intellectual disability and other anomalies, e.g. seizures and/or Hirschsprung disease (HSCR). Most individuals have a sociable demeanor, but one third show psychological problems. Aims: The aim was to investigate incontinence and psychological problems in MWS. Methods and procedures: 26 children (4-12 years), 13 teens (13-17 years) and 8 adults (>18 years) were recruited through a MWS support group. The Parental Questionnaire: Enuresis/Urinary Incontinence, as well as the Developmental Behaviour Checklist (DBC) were completed by parents or care-givers. Outcomes and results: 97.7% of persons with MWS had incontinence (nocturnal enuresis 74.4%; daytime urinary incontinence 76.2%; fecal incontinence 81.4%). Incontinence remained high over age groups (children 95.8%, teens 100%, adults 100%). 46.2% of children, 25% of teens and 37.5% of adults exceeded the clinical cut-off on the DBC. The ability to use the toilet for micturition improved with age. Conclusions and implications: MWS incontinence rates are very high. All had physical disabilities including anomalies of the genitourinary and gastrointestinal tract. Due to the high prevalence rates, a screening for incontinence and psychological problems in MWS is recommended. (C) 2017 Elsevier Ltd. All rights reserved.
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1016/j.ridd.2017.01.006" target="_blank" rel="noreferrer noopener">10.1016/j.ridd.2017.01.006</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
angelman-syndrome
behavioral problems
bowel incontinence
characteristics
Children
Constipation
Curfs L
Education & Educational Research
Einfeld S
enuresis
Equit M
features
fecal incontinence
hirschsprungs-disease
Mowat D
Mowat-Wilson syndrome
Niemczyk J
Phenotype
psychopathology
Rehabilitation
Research in Developmental Disabilities
Trajectory
urinary incontinence
urinary-incontinence
von Gontard A
Wagner C
-
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
An entity responsible for making the resource available
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