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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/10.1097/MPG.0b013e31824b6159" target="_blank" rel="noreferrer noopener">http://doi.org/10.1097/MPG.0b013e31824b6159</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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Gastrointestinal and nutritional problems occur frequently throughout life in girls and women with Rett syndrome
Publisher
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Journal of Pediatric Gastroenterology and Nutrition
Date
A point or period of time associated with an event in the lifecycle of the resource
2012
Subject
The topic of the resource
Parents; Age Factors; Male; Young Adult; Surveys and Questionnaires; Child; Humans; Adult; Adolescent; Prevalence; Female; Child Preschool; Infant; Health Surveys; Mutation; Rett Syndrome/complications/genetics; Bone Diseases/complications/epidemiology; Child Nutrition Disorders/epidemiology/etiology/genetics; Gastrointestinal Diseases/epidemiology/etiology/genetics; Growth Disorders/epidemiology/etiology/genetics; Infant Nutrition Disorders/epidemiology/etiology/genetics; Methyl-CpG-Binding Protein 2/genetics; Nutrition Disorders/epidemiology/etiology/genetics; constipation; feeding difficulties; Rett syndrome; trajectory; characteristics; gastrointestinal dysmotility; dysmotility; dysphagia
Creator
An entity primarily responsible for making the resource
Lee H S; Geerts S; Glaze D G; Percy A K; Skinner S A; Motil K J; Lane J B; Neul J L; McNair L; Annese F; Barrish J O; Caeg E
Description
An account of the resource
OBJECTIVE: We conducted a nationwide survey to determine the prevalence of common gastrointestinal and nutritional disorders in Rett syndrome (RTT) based on parental reporting and related the occurrence of these problems to age and methyl-CpG-binding protein 2 (MECP2) gene status. METHODS: We designed a questionnaire that probed symptoms, diagnoses, diagnostic tests, and treatment interventions related to gastrointestinal and nutritional problems in RTT. The International Rett Syndrome Foundation distributed the questionnaire to 1666 family-based members and forwarded their responses for our review. We interrogated the Rare Disease Clinical Research Network database to supplement findings related to medications used to treat gastrointestinal problems in RTT. RESULTS: Parents of 983 female patients with RTT (59%) responded and identified symptoms and diagnoses associated with gastrointestinal dysmotility (92%), chewing and swallowing difficulties (81%), weight deficits or excess (47%), growth deficits (45%), low bone mineral content or fractures (37%), and biliary tract disorders (3%). Height-for-age, weight-for-age, and body mass index z scores decreased significantly with age; height- and weight-, but not body mass index-for-age z scores were significantly lower in female subjects with MECP2 mutations than in those without. Vomiting, nighttime awakening, gastroesophageal reflux, chewing difficulty, and choking with feeding were significantly less likely to occur with increasing age. Short stature, low bone mineral content, fractures, and gastrostomy placement were significantly more likely to occur with increasing age. Chewing difficulty, choking with feeding, and nighttime awakening were significantly less likely to occur, whereas short stature was significantly more likely to occur, in female subjects with MECP2 mutations than in those without. Diagnostic evaluations and therapeutic interventions were used less frequently than the occurrence of symptoms or diagnoses in the RTT cohort. CONCLUSIONS: Gastrointestinal and nutritional problems perceived by parents are prevalent throughout life in girls and women with RTT and may pose a substantial medical burden for their caregivers. Physician awareness of these features of RTT may improve the health and quality of life of individuals affected with this disorder.
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1097/MPG.0b013e31824b6159" target="_blank" rel="noreferrer noopener">10.1097/MPG.0b013e31824b6159</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).
2012
Adolescent
Adult
Age Factors
Annese F
Barrish J O
Bone Diseases/complications/epidemiology
Caeg E
characteristics
Child
Child Preschool
Child Nutrition Disorders/epidemiology/etiology/genetics
Constipation
dysmotility
Dysphagia
feeding difficulties
Female
Gastrointestinal Diseases/epidemiology/etiology/genetics
gastrointestinal dysmotility
Geerts S
Glaze D G
Growth Disorders/epidemiology/etiology/genetics
Health Surveys
Humans
Infant
Infant Nutrition Disorders/epidemiology/etiology/genetics
Journal Of Pediatric Gastroenterology And Nutrition
Lane J B
Lee H S
Male
McNair L
Methyl-CpG-Binding Protein 2/genetics
Motil K J
Mutation
Neul J L
Nutrition Disorders/epidemiology/etiology/genetics
Parents
Percy A K
Prevalence
Rett syndrome
Rett Syndrome/complications/genetics
Skinner S A
Surveys And Questionnaires
Trajectory
Young Adult
-
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/ana.410210410" target="_blank" rel="noreferrer noopener">http://doi.org/10.1002/ana.410210410</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
Rett's syndrome: Characterization of respiratory patterns and sleep
Publisher
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Annals of Neurology
Date
A point or period of time associated with an event in the lifecycle of the resource
1987
Subject
The topic of the resource
etiology; ataxia; major clinical study; central nervous system; priority journal; seizure; human; child; diagnosis; Rett syndrome; autism; dementia; heredity; hyperpnea; respiratory system; sleep; breathing difficulties; sleep disturbance; trajectory; characteristics; abnormal respiratory problems; abnormal sleep patterns
Creator
An entity primarily responsible for making the resource
Glaze D G; Frost Jr J D; Zoghbi H Y; Percy A K
Description
An account of the resource
Rett's syndrome is a progressive disorder that occurs in females and is characterized by autistic behavior, dementia, ataxia, loss of purposeful use of the hands, and seizures. Patients with Rett's syndrome have been observed to have stereotyped hand movements (hand-washing) and to exhibit intermittent hyperventilation. To characterize more precisely the sleep and respiratory patterns associated with this disorder, polygraphic studies were made during sleep and wakefulness in 11 patients with this syndrome. These studies showed abnormal respiratory patterns during wakefulness, and abnormal sleep and electroencephalographic characteristics. The patients had decreased percentages of rapid-eye-movement sleep, and during wakefulness, a pattern of disorganized breathing was observed in all 11 patients and consisted of hypoxia followed by a period of increased respiratory rate and effort. The occurrence of disorganized breathing and compensatory hyperpnea during wakefulness with regular, continuous breathing during sleep is characteristic of Rett's syndrome and suggests an altered or impaired voluntary/behavioral respiratory control system.
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1002/ana.410210410" target="_blank" rel="noreferrer noopener">10.1002/ana.410210410</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).
1987
abnormal respiratory problems
abnormal sleep patterns
Annals Of Neurology
ataxia
Autism
breathing difficulties
Central Nervous System
characteristics
Child
Dementia
Diagnosis
etiology
Frost Jr J D
Glaze D G
heredity
Human
hyperpnea
Major Clinical Study
Percy A K
Priority Journal
Respiratory System
Rett syndrome
Seizure
Sleep
sleep disturbance
Trajectory
Zoghbi H Y