1
40
5
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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
The topic of the resource
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
An entity primarily responsible for making the resource
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
An unambiguous reference to the resource within a given context
<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/10.1002/ppul.20866" target="_blank" rel="noreferrer noopener">http://doi.org/10.1002/ppul.20866</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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Autonomic Dysregulation in Young Girls With Rett Syndrome During Nighttime in-Home Recordings
Publisher
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Pediatric Pulmonology
Date
A point or period of time associated with an event in the lifecycle of the resource
2008
Subject
The topic of the resource
Pediatrics; patterns; autonomic dysregulation; cardiorespiratory dysregulation; disorder; disturbances; dysfunction; hyperventilation; mecp2 mutations; mice; nervous-system; Respiratory System; breathing difficulties; Rett syndrome; trajectory; characteristics; irregular breathing; increased breathing frequency
Creator
An entity primarily responsible for making the resource
Weese-Mayer D E; Lieske S P; Boothby C M; Kenny A S; Bennett H L; Ramirez J M
Description
An account of the resource
This study was designed to specifically characterize the autonomic phenotype of cardiorespiratory dysregulation during the nighttime in young girls with MECP2 mutation-confirmed Rett Syndrome (RS), studied in their home environment. Computerized breath-to-breath and beat-to-beat characterization of at-home continuously recorded respiratory inductance plethysmography of chest/abdomen and ECG (VivoMetrics, Inc.) was obtained during overnight recordings in 47 girls with MECP2 mutation-confirmed RS and 47 age-, gender-, and ethnicity-matched screened controls (ages 2-7 years). We determined that although the breathing and heart rate appear more regular during the night compared to the day, young girls with RS demonstrate apparent nocturnal irregularities. Comparing daytime versus nighttime, breathing was more irregular, with an increased breathing frequency (and irregularity), mean amplitude of respiratory inductance plethysmography sum (AMP)/T-I, and heart rate and decreased AMP in girls with RS. Comparing girls with RS versus controls during nighttime recording, breathing was more irregular, with an increased breathing frequency (and irregularity), mean AMP/T-I, and heart rate. An increased uncoupling between measures of breathing and heart rate control indicates malregulation in the autonomic nervous system, and is apparent during the day as well as the night. This uncoupling may represent a mechanism that renders the girls with RS more vulnerable to sudden death. Pediatr Pulmonol. 2008;43:1045-1060. (C) 2008 Wiley-Liss, Inc.
Identifier
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<a href="http://doi.org/10.1002/ppul.20866" target="_blank" rel="noreferrer noopener">10.1002/ppul.20866</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
autonomic dysregulation
Bennett H L
Boothby C M
breathing difficulties
cardiorespiratory dysregulation
characteristics
Disorder
disturbances
dysfunction
hyperventilation
increased breathing frequency
irregular breathing
Kenny A S
Lieske S P
mecp2 mutations
Mice
nervous-system
Patterns
Pediatric Pulmonology
Pediatrics
Ramirez J M
Respiratory System
Rett syndrome
Trajectory
Weese-Mayer D E
-
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
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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/10.1002/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
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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/10.1007/s00455-014-9587-9" target="_blank" rel="noreferrer noopener">http://doi.org/10.1007/s00455-014-9587-9</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
Co-occurrence of Dystonic and Dyskinetic Tongue Movements with Oral Apraxia in Post-regression Dysphagia in Classical Rett Syndrome Years of Life 1 Through 5
Publisher
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Dysphagia
Date
A point or period of time associated with an event in the lifecycle of the resource
2015
Subject
The topic of the resource
Deglutition; disorders; girls; phenotype; dysfunction; mecp2 mutations; Classical Rett syndrome; Dysphagia; Early Pseudostationary stage; Fluoroscopy; genotype; Otorhinolaryngology; Swallowing; Videofluoroscopic study of swallowing; women; feeding difficulties; tone and motor; Rett syndrome; trajectory; characteristics; dysmotility; dystonia; dyskinesia
Creator
An entity primarily responsible for making the resource
Abraham S S; Taragin B; Djukic A
Description
An account of the resource
We do not know the natural history of dysphagia in classical Rett syndrome (RTT) by stage or age. This study investigated swallowing physiology in 23 females ages 1:7 to 5:8 (years, months) with classical Rett syndrome to determine common and distinguishing features of dysphagia in post-regression early Pseudostationary Stage III. In-depth analysis of videofluoroscopic swallowing studies (VFSS) found dysmotility of oral stage events across subjects implicating oral apraxia. Impaired motility was further compromised by recurrent dystonic and dyskinetic movements that co-occurred with oral apraxia during oral ingestion in 78 % (n = 18) of the subjects with RTT. Of this group, 44 % displayed rocking and/or rolling lingual pattern, 56 % had recurrent oral tongue retroflexions, and/or elevated posturing of the tongue tip, and, 72 % displayed multi-wave oropharyngeal transfer pattern. The proportion of subjects whose swallowing motility was disrupted by aberrant involuntary tongue movements did not differ significantly between bolus types (liquid, puree, and solid) trialed. Liquid ingestion was significantly more efficient in subjects using bottles with nipples than their counterparts who used spouted or straw cups. Dystonic and dyskinetic tongue movements disrupted liquid ingestion in subjects using cups with spouts or straws significantly more than those using bottles. Analysis of food ingestion revealed that significantly more subjects were able to orally form, transport, and transfer a puree bolus into the pharynx than they were a solid bolus. A significantly larger number of subjects aspirated and penetrated liquid than they did puree or solid. No significant relationship was found between subjects with airway contamination and those with dystonic and dyskinetic tongue movements. Subjects' rocking and rolling lingual patterns were consistent with those evidenced in adults with Parkinson's disease. Subjects' tongue retroflexions were classified as provisionally unique to RTT. VFSS pre-planning, fluoroscopic procedures, and therapeutic strategies specific to this specialty population were derived.
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1007/s00455-014-9587-9" target="_blank" rel="noreferrer noopener">10.1007/s00455-014-9587-9</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
Abraham S S
characteristics
Classical Rett syndrome
Deglutition
Disorders
Djukic A
dysfunction
Dyskinesia
dysmotility
Dysphagia
Dystonia
Early Pseudostationary stage
feeding difficulties
Fluoroscopy
Genotype
girls
mecp2 mutations
Otorhinolaryngology
Phenotype
Rett syndrome
Swallowing
Taragin B
tone and motor
Trajectory
Videofluoroscopic study of swallowing
Women