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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/10.1016/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
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Incontinence and psychological symptoms in individuals with Mowat-Wilson Syndrome
Publisher
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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
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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.33126" target="_blank" rel="noreferrer noopener">http://doi.org/10.1002/ajmg.a.33126</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 Course of Cognitive, Adaptive, and Behavioral Characteristics in Costello Syndrome
Publisher
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American Journal of Medical Genetics Part A
Date
A point or period of time associated with an event in the lifecycle of the resource
2009
Subject
The topic of the resource
cognitive; Genetics & Heredity; phenotype; features; functioning; HRAS; longitudinal assessment; MAP kinase pathway; p.G12A; p.G12S; p.G13C; p.T581; behavioral; tone and motor; costello syndrome; trajectory; characteristics; disability
Creator
An entity primarily responsible for making the resource
Axelrad M E; Schwartz D D; Fehlis J E; Hopkins E; Stabley D L; Sol-Church K; Gripp K W
Description
An account of the resource
Costello syndrome is a rare rasopathy caused by germline mutations in the oncogene HRAS resulting in increased signal transduction through the Ras/mitogen-activated protein kinase pathway. In contrast to the more common rasopathies, such as neurofibromatosis type 1 and Noonan syndrome, limited information is available on standardized cognitive testing in this cohort. Past research indicated a mean average IQ in the mild mental retardation range, with strengths in fluid reasoning (FR) and weakness in expressive language, as well as static skills over time. Here we report on standardized IQ and adaptive functioning in 18 individuals with Costello syndrome, nine males and nine females, and longitudinal development for 11 who had previous testing. The overall IQ, ranging from severe mental retardation to the average range, with a mean in the mildly mentally retarded range, was again found to be stable, but an interesting pattern in the development of nonverbal FR was identified. Participants showed an improvement in nonverbal FR, followed by stable skills thereafter, suggesting a "late bloomer" effect in late childhood/early adolescence. Overall adaptive functioning fell into the range of Intellectual Disability for 70% of subjects, with Socialization as a relative strength and Daily Living Skills an area of relative difficulty. Interestingly, females were found to be higher functioning than males in all domains, including Communication, Daily Living Skills and Socialization. Caregivers reported significantly more behavioral concerns in males, including internalizing, externalizing, and other maladaptive behaviors. In contrast, no gender differences were found in cognitive or visuomotor functioning. (C) 2009 Wiley-Liss, Inc.
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1002/ajmg.a.33126" target="_blank" rel="noreferrer noopener">10.1002/ajmg.a.33126</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
American Journal of Medical Genetics Part A
Axelrad M E
behavioral
characteristics
cognitive
costello syndrome
Disability
features
Fehlis J E
functioning
Genetics & Heredity
Gripp K W
Hopkins E
HRAS
longitudinal assessment
MAP kinase pathway
p.G12A
p.G12S
p.G13C
p.T581
Phenotype
Schwartz D D
Sol-Church K
Stabley D L
tone and motor
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
-
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/10.1589/jpts.22.387" target="_blank" rel="noreferrer noopener">http://doi.org/10.1589/jpts.22.387</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
What Problematic Behaviors are Observed among Mentally Handicapped Children Receiving Pediatric Physical Therapy?
Publisher
An entity responsible for making the resource available
Journal of Physical Therapy Science
Date
A point or period of time associated with an event in the lifecycle of the resource
2010
Subject
The topic of the resource
Rehabilitation; features; fragile-x-syndrome; Aberrant Behavior Checklist; Japanese manuals of; Pediatric physical therapy; prader-willi; Problematic behaviors; behavioral problems; Mowat-Wilson syndrome; Pena Shokeir syndrome; tuberous sclerosis; West syndrome; trajectory; characteristics; irritability; lethargy
Creator
An entity primarily responsible for making the resource
Uesugi M; Naruse S; Inoue Y; Koeda H; Gotou M; Nanba Y; Tokuhisa K
Description
An account of the resource
[Purpose] This study aimed to examine problematic behaviors of mentally handicapped children receiving pediatric physical therapy, through applying the Japanese version of the Aberrant Behavior Checklist(ABC-J) to persons receiving pediatric physical therapy. [Subjects] Subjects were 26 handicapped children who had received pediatric physical therapy (18 males and 8 females, aged from 1 year and 4 months to 19 years and 10 months). The raters were 5 physical therapists and 1 occupational therapist. [Methods] The subjects were rated using ABC-J. [Results] Twenty-four of 26 subjects showed "Irritability", 23 subjects showed "Lethargy", 13 subjects showed "Stereotypy", 23 subjects showed "Hyperactivity", 12 subjects showed "Inappropriate speech". [Conclusion] "Irritability" "Lethargy" and "Hyperactivity" showed comparatively a stronger tendencies. However, all items were graded high in comparison with reports for Down syndrome. The results of this study suggest that the subjects of pediatric physical therapy show problem in problematic behaviors.
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1589/jpts.22.387" target="_blank" rel="noreferrer noopener">10.1589/jpts.22.387</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
Aberrant Behavior Checklist
behavioral problems
characteristics
features
fragile-x-syndrome
Gotou M
Inoue Y
Irritability
Japanese manuals of
Journal of Physical Therapy Science
Koeda H
lethargy
Mowat-Wilson syndrome
Nanba Y
Naruse S
Pediatric Physical Therapy
Pena Shokeir syndrome
prader-willi
Problematic behaviors
Rehabilitation
Tokuhisa K
Trajectory
Tuberous Sclerosis
Uesugi M
West syndrome