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40
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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
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URL Address
<a href="http://doi.org/10.1002/aur.1774" target="_blank" rel="noreferrer noopener">http://doi.org/10.1002/aur.1774</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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Variations of Stereotypies in Individuals With Rett Syndrome: A Nationwide Cross-Sectional Study in Taiwan
Publisher
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Autism Research
Date
A point or period of time associated with an event in the lifecycle of the resource
2017
Subject
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Psychology; epilepsy; disorders; movement disorders; Rett syndrome; girls; autism; mecp2 mutations; MECP2; Behavioral Sciences; manifestations; CDKL5; chinese patients; ganglia; motor stereotypies; stereotypies; tone and motor problems; trajectory; characteristics; stereotypy; hair pulling; bruxism; retropulsion; lip protrusion
Creator
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Wong L C; Hung P L; Jan T Y; Lee W T
Description
An account of the resource
Individuals with Rett syndrome (RTT) can have variable manifestations of stereotypies. In this nation-wide cross-sectional study, we recruited all individuals with RTT in Taiwan diagnosed as RTT by neurologists based on genetic findings and diagnostic criteria. The data were collected using questionnaire. A total 43 cases of typical RTT and 15 cases of atypical RTT, aged from 2.1 to 40.1 years, were enrolled. They included 3 (5.2%) in stage II, 42 (72.4%) in stage III, and 13 (22.4%) in stage IV. All individuals presented with at least one stereotypy. Individuals with atypical RTT had more varied stereotypies (mean: 1466) compared to those with typical RTT (mean: 965) (P=0.003). Flapping (73.3%) and wringing (58.1%) were the most common hand stereotypies in atypical and typical RTT, respectively. Compared with typical RTT, hair pulling, bruxism, retropulsion, and protrusion of lips were more common in atypical RTT (P=0.003, P=0.006, P=0.003 and <0.001, respectively). The number of stereotypies did not differ among different stages, clinical severities, and hand functions. Although there were no age-related changes in stereotypies in atypical RTT, flapping (P=0.012), clapping (P=0.044), and mouthing with single hand (P=0.009) were significantly more prevalent in individuals aged <10 years with typical RTT, and they decreased after 10 years. In conclusion, our study showed that the stereotypical movements varied in typical and atypical RTT, implying the heterogeneous nature of the disease and the pathogenic mechanisms of RTT with atypical features. (C) 2017 International Society for Autism Research, Wiley Periodicals, Inc.
Identifier
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<a href="http://doi.org/10.1002/aur.1774" target="_blank" rel="noreferrer noopener">10.1002/aur.1774</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
Autism
Autism Research
Behavioral Sciences
bruxism
CDKL5
characteristics
chinese patients
Disorders
Epilepsy
Ganglia
girls
hair pulling
Hung P L
Jan T Y
Lee W T
lip protrusion
manifestations
mecp2
mecp2 mutations
motor stereotypies
Movement Disorders
Psychology
retropulsion
Rett syndrome
stereotypies
stereotypy
tone and motor problems
Trajectory
Wong L 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/j.1365-2133.2008.08507.x" target="_blank" rel="noreferrer noopener">http://doi.org/10.1111/j.1365-2133.2008.08507.x</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
Gastrointestinal complications of epidermolysis bullosa in children
Publisher
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British Journal of Dermatology
Date
A point or period of time associated with an event in the lifecycle of the resource
2008
Subject
The topic of the resource
constipation; epidermolysis bullosa; acquisita; alpha-6-beta-4; balloon-dilatation; colitis; colon interposition; crohns-disease; Dermatology; esophageal strictures; expression; gastro-oesophageal reflux; gastrointestinal; manifestations; oesophageal strictures; pyloric atresia; vii collagen; feeding difficulties; trajectory; characteristics; GI problems; gastrointestinal problems
Creator
An entity primarily responsible for making the resource
Freeman E B; Koglmeier J; Martinez A E; Mellerio J E; Haynes L; Sebire N J; Lindley K J; Shah N
Description
An account of the resource
Background Epidermolysis bullosa (EB) is a group of inherited disorders characterized by skin and mucous membrane fragility. Gastrointestinal (GI) complications have been described in many types of EB and are responsible for significant morbidity. Objectives To delineate the nature and frequency of GI complications in a large cohort of paediatric patients with EB and to postulate why some complications occur more commonly in some specific subtypes. Methods The case notes of 223 children with EB seen at a national referral centre were examined retrospectively for the presence of GI symptoms, investigations and interventions. Results GI complications were present in 130/223 (58%) of all patients. In EB simplex, constipation and gastro-oesophageal reflux (GOR) were frequently observed. In junctional EB, failure to thrive and protein-losing enteropathy (PLE) were the prominent GI manifestations. Constipation was common in patients with dystrophic EB (DEB) requiring laxatives and in some cases fibre supplementation. GOR affected three-quarters of those with recessive DEB, two-thirds also having significant oesophageal strictures. Over half of patients with recessive DEB required gastrostomy insertion. Diarrhoea affected a small but significant proportion of children with recessive DEB with macroscopic and/or microscopic changes of colitis in the majority. Conclusion GI problems in EB are very common with subtype specificity for some of these complications. The occurrence of diarrhoea, PLE and colitis in the context of EB has not been highlighted previously, and may arise secondarily to antigenic exposure in the gut lumen as a result of mucosal fragility.
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1111/j.1365-2133.2008.08507.x" target="_blank" rel="noreferrer noopener">10.1111/j.1365-2133.2008.08507.x</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).
2008
acquisita
alpha-6-beta-4
balloon-dilatation
British Journal of Dermatology
characteristics
colitis
colon interposition
Constipation
crohns-disease
Dermatology
epidermolysis bullosa
Esophageal strictures
expression
feeding difficulties
Freeman E B
gastro-oesophageal reflux
gastrointestinal
gastrointestinal problems
GI problems
Haynes L
Koglmeier J
Lindley K J
manifestations
Martinez A E
Mellerio J E
oesophageal strictures
pyloric atresia
Sebire N J
Shah N
Trajectory
vii collagen