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/10.1002/ajmg.a.37502" target="_blank" rel="noreferrer noopener">http://doi.org/10.1002/ajmg.a.37502</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
Sleep disturbance in Mowat-Wilson syndrome
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
2016
Subject
The topic of the resource
Middle Aged; Male; Severity of Illness Index; Surveys and Questionnaires; Child; Humans; Adult; Adolescent; Female; Child Preschool; Australia; Mutation; Facies; Hirschsprung Disease/di [Diagnosis]; Intellectual Disability/di [Diagnosis]; Microcephaly/di [Diagnosis]; Sleep Initiation and Maintenance Disorders/di [Diagnosis]; 0 (Homeodomain Proteins); 0 (Repressor Proteins); 0 (ZEB2 protein human); Behavior Rating Scale; Gene Expression; Hirschsprung Disease/co [Complications]; Hirschsprung Disease/ge [Genetics]; Hirschsprung Disease/pp [Physiopathology]; Homeodomain Proteins/ge [Genetics]; Intellectual Disability/co [Complications]; Intellectual Disability/ge [Genetics]; Intellectual Disability/pp [Physiopathology]; Microcephaly/co [Complications]; Microcephaly/ge [Genetics]; Microcephaly/pp [Physiopathology]; Mowat-Wilson syndrome; Repressor Proteins/ge [Genetics]; Sleep Initiation and Maintenance Disorders/co [Complications]; Sleep Initiation and Maintenance Disorders/ge [Genetics]; Sleep Initiation and Maintenance Disorders/pp [Physiopathology]; sleep disturbance/disorders; Mowat-Wilson syndrome; trajectory; characteristics
Creator
An entity primarily responsible for making the resource
Evans E; Mowat D; Wilson M; Einfeld S
Description
An account of the resource
Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome caused by a heterozygous mutation or deletion of the ZEB2 gene. It is characterized by a distinctive facial appearance in association with intellectual disability (ID) and variable other features including agenesis of the corpus callosum, seizures, congenital heart defects, microcephaly, short stature, hypotonia, and Hirschsprung disease. The current study investigated sleep disturbance in people with MWS. In a series of unstructured interviews focused on development and behaviors in MWS, family members frequently reported sleep disturbance, particularly early-morning waking and frequent night waking. The Sleep Disturbance Scale for Children (SDSC) was therefore administered to a sample of 35 individuals with MWS, along with the Developmental Behaviour Checklist (DBC) to measure behavioral and emotional disturbance. A high level of sleep disturbance was found in the MWS sample, with 53% scoring in the borderline range and 44% in the clinical disorder range for at least one subscale of the SDSC. Scores were highest for the Sleep-wake transition disorders subscale, with 91% of participants reaching at least the borderline disorder range. A significant positive association was found between total scores on the SDSC and the DBC Total Behaviour Problem Score. These results suggest that sleep disorders should be screened for in people with MWS, and where appropriate, referrals to sleep specialists made for management of sleep problems.Copyright © 2015 Wiley Periodicals, Inc.
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1002/ajmg.a.37502" target="_blank" rel="noreferrer noopener">10.1002/ajmg.a.37502</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).
0 (Homeodomain Proteins)
0 (Repressor Proteins)
0 (ZEB2 protein human)
2016
Adolescent
Adult
American Journal of Medical Genetics Part A
Australia
Behavior Rating Scale
characteristics
Child
Child Preschool
Einfeld S
Evans E
Facies
Female
Gene Expression
Hirschsprung Disease/co [Complications]
Hirschsprung Disease/di [Diagnosis]
Hirschsprung Disease/ge [Genetics]
Hirschsprung Disease/pp [Physiopathology]
Homeodomain Proteins/ge [Genetics]
Humans
Intellectual Disability/co [Complications]
Intellectual Disability/di [Diagnosis]
Intellectual Disability/ge [Genetics]
Intellectual Disability/pp [Physiopathology]
Male
Microcephaly/co [Complications]
Microcephaly/di [Diagnosis]
Microcephaly/ge [Genetics]
Microcephaly/pp [Physiopathology]
Middle Aged
Mowat D
Mowat-Wilson syndrome
Mutation
Repressor Proteins/ge [Genetics]
Severity Of Illness Index
sleep disturbance/disorders
Sleep Initiation and Maintenance Disorders/co [Complications]
Sleep Initiation and Maintenance Disorders/di [Diagnosis]
Sleep Initiation and Maintenance Disorders/ge [Genetics]
Sleep Initiation and Maintenance Disorders/pp [Physiopathology]
Surveys And Questionnaires
Trajectory
Wilson M