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Dublin Core
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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/10.1097/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
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2012
Subject
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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
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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
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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
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<a href="http://doi.org/10.1097/MPG.0b013e31824b6159" target="_blank" rel="noreferrer noopener">10.1097/MPG.0b013e31824b6159</a>
Rights
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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