1 40 4 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/10.1097/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 A name given to the resource Gastrointestinal and nutritional problems occur frequently throughout life in girls and women with Rett syndrome Publisher An entity responsible for making the resource available 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/10.1053/jada.2003.50026" target="_blank" rel="noreferrer noopener">http://doi.org/​10.1053/jada.2003.50026</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 Eating difficulties in girls with Rett syndrome compared with other developmental disabilities Publisher An entity responsible for making the resource available Journal of the American Dietetic Association Date A point or period of time associated with an event in the lifecycle of the resource 2003 Subject The topic of the resource Nutrition & Dietetics; feeding difficulties; Rett syndrome; trajectory; characteristics; feeding skills; irregular breathing problems Creator An entity primarily responsible for making the resource Isaacs J S; Murdock A; Lane J; Percy A K Description An account of the resource Rett syndrome arises from a mutation on the X chromosome and occurs with prevalence in the general population in 1:10,000 women. Its major nutritional consequences require that health providers recognize early signs of eating difficulties and slowing of growth parameters, Retrospective record review of 44 girls, in two equal-sized groups matched by age, showed that the Rett syndrome group was significantly different, with lower body weights, more respiratory difficulties, more gastrointestinal symptoms interfering with eating, more swallowing problems, less self-feeding, and lower texture tolerance for chewy and crunchy foods compared with the developmental disability group. Microcephaly was noted for half of the Rett, syndrome group compared with seven in the developmental disability group. Parents expressed concern about their child's difficulties in eating; eight of the Rett syndrome girls and 13 of the girls in the developmental disability group were reported to have a poor appetite. Distinctive features of Rett syndrome consistent with those in the literature were documented reasonably well in the nutrition assessment records. Detailed food intake information was analyzed for food texture characteristics to recognize early eating and texture tolerance problems. Recommendations were offered for conducting a thorough nutrition assessment of Rett syndrome patients, including analysis of the texture of consumed foods. Additional recommendations for improving nutrition services to those with Rett syndrome and other developmental disabilities include ruling out microcephaly, early identification of eating difficulties, with modifications in food texture as appropriate, and self-feeding goals. Identifier An unambiguous reference to the resource within a given context <a href="http://doi.org/10.1053/jada.2003.50026" target="_blank" rel="noreferrer noopener">10.1053/jada.2003.50026</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). 2003 characteristics feeding difficulties feeding skills irregular breathing problems Isaacs J S Journal of the American Dietetic Association Lane J Murdock A Nutrition & Dietetics Percy A K Rett syndrome 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/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 An entity responsible for making the resource available 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 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.870050303" target="_blank" rel="noreferrer noopener">http://doi.org/​10.1002/mds.870050303</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 syndrome and associated movement disorders 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 1990 Subject The topic of the resource Child; Humans; Adult; Adolescent; Female; Child Preschool; Infant; Movement Disorders/etiology/physiopathology; Rett Syndrome/complications/physiopathology; Stereotyped Behavior; tone and motor problems; Rett syndrome; trajectory; characteristics; stereotypy; gait disturbance Creator An entity primarily responsible for making the resource FitzGerald P M; Jankovic J; Percy A K Description An account of the resource Rett syndrome, a progressive neurodegenerative disorder described only in female subjects, is manifested by a wide spectrum of behavioral and motor abnormalities. We studied 32 patients with this disorder, ages 30 months to 28 years old, and characterized their extrapyramidal disturbance. The most common motor abnormalities were stereotyped movements and gait disturbance, seen in all patients. Bruxism, oculogyric crises, parkinsonism, and dystonia were also common, but myoclonus and choreoathetosis were seen only infrequently. The hyperkinetic movement disorders tended to dominate in younger patients, while bradykinetic disorders were more evident in the older patients. This study provides evidence that movement disorders seen in Rett syndrome reflect age-related neurodegenerative changes in the basal ganglia. Identifier An unambiguous reference to the resource within a given context <a href="http://doi.org/10.1002/mds.870050303" target="_blank" rel="noreferrer noopener">10.1002/mds.870050303</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). 1990 Adolescent Adult characteristics Child Child Preschool Female FitzGerald P M gait disturbance Humans Infant Jankovic J Movement Disorders Movement Disorders/etiology/physiopathology Percy A K Rett syndrome Rett Syndrome/complications/physiopathology Stereotyped Behavior stereotypy tone and motor problems Trajectory