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/10.1007/s00455-017-9804-4" target="_blank" rel="noreferrer noopener">http://doi.org/​10.1007/s00455-017-9804-4</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 Dysphagia in Friedreich Ataxia Publisher An entity responsible for making the resource available Dysphagia Date A point or period of time associated with an event in the lifecycle of the resource 2017 Subject The topic of the resource Quality of life; speech; management; Otorhinolaryngology; Swallowing; adults; Gait disorders/ataxia; interrater reliability; molecular-genetics; pathogenesis; pathology; penetration-aspiration scale; Trinucleotide repeat diseases; Videofluoroscopy; feeding difficulties; Friedreich's ataxia; trajectory; characteristics; dysphagia; penetration; aspiration Creator An entity primarily responsible for making the resource Keage M J; Delatycki M B; Gupta I;Corben L A; Vogel A P Description An account of the resource The objective of the study was to comprehensively characterise dysphagia in Friedreich ataxia (FRDA) and identify predictors of penetration/aspiration during swallowing. We also investigated the psychosocial impact of dysphagia on individuals with FRDA. Sixty participants with FRDA were screened for dysphagia using a swallowing quality of life questionnaire (Swal-QOL) and case history. Individuals reporting dysphagia underwent a standardised oromotor assessment (Frenchay Dysarthria Assessment, 2, FDA-2) and videofluoroscopic study of swallowing (VFSS). Data were correlated with disease parameters (age at symptom onset, age at assessment, disease duration, FXN intron 1 GAA repeat sizes, and Friedreich Ataxia Rating Scale (FARS) score). Predictors of airway penetration/aspiration were explored using logistic regression analysis. Ninety-eight percent (59/60) of participants reported dysphagia, of whom 35 (58.3%) underwent FDA-2 assessment, and 38 (63.3%) underwent VFSS. Laryngeal, respiratory, and tongue dysfunction was observed on the FDA-2. A Penetration-Aspiration Scale score above 3 (deemed significant airway compromise based on non-clinical groups) was observed on at least one consistency in 13/38 (34.2%) participants. All of those who aspirated (10/38, 26.3%) did so silently, with no overt signs of airway entry such as reflexive cough. Significant correlations were observed between dysphagic symptoms and disease duration and severity. No reliable predictors of penetration or aspiration were identified. Oropharyngeal dysphagia is commonly present in individuals with FRDA and worsens with disease duration and severity. Individuals with FRDA are at risk of aspiration at any stage of the disease and should be reviewed regularly. Instrumental analysis remains the only reliable method to detect aspiration in this population. Dysphagia significantly affects the quality of life of individuals with FRDA. Identifier An unambiguous reference to the resource within a given context <a href="http://doi.org/10.1007/s00455-017-9804-4" target="_blank" rel="noreferrer noopener">10.1007/s00455-017-9804-4</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 adults aspiration characteristics Corben L A Delatycki M B Dysphagia feeding difficulties Friedreich's ataxia Gait disorders/ataxia Gupta I interrater reliability Keage M J Management molecular-genetics Otorhinolaryngology pathogenesis Pathology penetration penetration-aspiration scale Quality Of Life Speech Swallowing Trajectory Trinucleotide repeat diseases Videofluoroscopy Vogel A P 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/10.1136/adc.2004.065482" target="_blank" rel="noreferrer noopener">http://doi.org/​10.1136/adc.2004.065482</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 Sleep disturbance in Sanfilippo syndrome: a parental questionnaire study Publisher An entity responsible for making the resource available Archives of Disease in Childhood Date A point or period of time associated with an event in the lifecycle of the resource 2005 Subject The topic of the resource Treatment Outcome; Infant Newborn; Humans; Adolescent; Child Preschool; Infant; Questionnaires; Age of Onset; Incidence; Behavior Therapy; Melatonin/therapeutic use; Mucopolysaccharidosis III/psychology; Sleep Disorders/epidemiology/etiology/therapy; Q3 Literature Search; child; adult; Adolescent; Adult; Age of Onset; Behavior Therapy; Child; Preschool; Humans; Incidence; Infant; sleep disturbance/disorders; MPS III; trajectory; characteristics; melatonin; benzodiazepines Creator An entity primarily responsible for making the resource Fraser J; Gason A A; Wraith J E; Delatycki M B Description An account of the resource AIMS: To determine the incidence, manifestations, and best management of sleep disturbance in Sanfilippo syndrome (mucopolysaccharidosis (MPS) type III). METHODS: Families were ascertained through the MPS societies of Australasia, the UK, and the USA. Questionnaires were sent by mail and were answered anonymously. Identical questions regarding sleep disturbance were asked about unaffected siblings to provide control data. Sleep disturbance was quantified by a total sleep disturbance score. RESULTS: A total of 141 responses were received; 91.5% of children with Sanfilippo syndrome had sleep disturbance and this was significantly higher than for their unaffected sibs; 77.5% of parents had used medication for this problem, with melatonin and antihistamines being most commonly used. Melatonin and benzodiazepines were reported as the most efficacious. Many different environmental modifications had been employed for this problem and some parents reported success with behavioural therapies. CONCLUSIONS: Sleep disturbance is common, severe, and difficult to manage in Sanfilippo syndrome. Based on the parental responses and its safety profile, melatonin is the first line drug that should be tried. Behavioural therapy should be tried in all with Sanfilippo syndrome and sleep disturbance. Identifier An unambiguous reference to the resource within a given context <a href="http://doi.org/10.1136/adc.2004.065482" target="_blank" rel="noreferrer noopener">10.1136/adc.2004.065482</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). 2005 Adolescent Adult Age of Onset Archives of Disease in Childhood Behavior Therapy Benzodiazepines characteristics Child Child Preschool Delatycki M B Fraser J Gason A A Humans Incidence Infant Infant Newborn melatonin Melatonin/therapeutic use MPS III Mucopolysaccharidosis III/psychology Preschool Q3 Scoping Review Results Questionnaires Sleep Disorders/epidemiology/etiology/therapy sleep disturbance/disorders Trajectory Treatment Outcome Wraith J 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/10.1007/s00415-009-5352-7" target="_blank" rel="noreferrer noopener">http://doi.org/​10.1007/s00415-009-5352-7</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 A comparison of three measures of upper limb function in Friedreich ataxia Publisher An entity responsible for making the resource available Journal of Neurology Date A point or period of time associated with an event in the lifecycle of the resource 2010 Subject The topic of the resource tone and motor problems; Friedreich's ataxia; trajectory; characteristics Creator An entity primarily responsible for making the resource Corben L A; Tai G; Wilson C; Collins V; Churchyard A J; Delatycki M B Description An account of the resource Friedreich Ataxia (FRDA) is the commonest inherited ataxia. Clinical trials of pharmaceuticals are increasingly being conducted in this condition. This requires the most accurate outcome measures to enable trials to be conducted with a minimum number of subjects in the shortest time frame and to minimize the risk of false negative results. Upper limb function is a major area of morbidity in FRDA. We therefore have compared the performance of three tests of upper limb function in FRDA: the Nine Hole Peg Test (9HPT), Box and Blocks Test (BBT) and Jebsen Taylor Hand Function Test (JTHFT). This study was undertaken to ascertain the best test for inclusion in a Friedreich Ataxia Functional Composite (FAFC) test for use in clinical studies and therapeutic trials. The three tests were administered to the dominant and non-dominant upper limbs of 38 individuals with genetically proven FRDA on two occasions, 12 months apart. The results of testing were correlated with the following disease parameters; age at disease onset, disease duration and score for the Friedreich Ataxia Rating Scale (FARS). The responsiveness to change of each test was assessed by measuring the effect size and calculations of the number of subjects required for similarly powered therapeutic trials. Results for all tests correlated significantly with disease duration and FARS score. The only test scores that changed significantly over 12 months were those for the non-dominant 9HPT and BBT. Scores for these two tests also had the largest effect sizes and required the fewest subjects for similarly powered therapeutic trials. We conclude, therefore, that the non-dominant 9HPT and BBT are the best tests for inclusion in a FAFC. Since the 9HPT has already been suggested for inclusion in a FAFC, we recommend that this test is used but that it is the non-dominant limb that is tested. Identifier An unambiguous reference to the resource within a given context <a href="http://doi.org/10.1007/s00415-009-5352-7" target="_blank" rel="noreferrer noopener">10.1007/s00415-009-5352-7</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 characteristics Churchyard A J Collins V Corben L A Delatycki M B Friedreich's ataxia Journal Of Neurology Tai G tone and motor problems Trajectory Wilson 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/10.1212/WNL.0b013e318297ef18" target="_blank" rel="noreferrer noopener">http://doi.org/​10.1212/WNL.0b013e318297ef18</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 Increased prevalence of sleep-disordered breathing in Friedreich ataxia Publisher An entity responsible for making the resource available Neurology Date A point or period of time associated with an event in the lifecycle of the resource 2013 Subject The topic of the resource reliability; Neurosciences & Neurology; disease; scale; adults; apnea syndrome; daytime sleepiness; breathing difficulties; Friedreich's ataxia; trajectory; characteristics; obstructive sleep apnea Creator An entity primarily responsible for making the resource Corben L A; Ho M; Copland J; Tai G; Delatycki M B Description An account of the resource Objectives: We sought to document the prevalence and nature of sleep-disordered breathing (SDB) in individuals with Friedreich ataxia (FRDA) as well as establish the relationship, if any, between SDB and clinical parameters of FRDA. Methods: Eighty-two individuals with FRDA were administered the Epworth Sleepiness Scale on an annual basis for up to 3 years. Individuals were referred for a sleep study if they had an Epworth Sleepiness Scale score >8 or had clinical symptoms suggestive of SDB. Results: From this cohort, 21 individuals underwent a sleep study and 17 were diagnosed with obstructive sleep apnea syndrome, giving a minimum prevalence of 21%, which is greater than that found in the general population (3%-7%). Moreover, the presence of obstructive sleep apnea was significantly correlated with the duration of disease and clinical severity of FRDA. Conclusion: It is recommended that individuals with FRDA undergo regular screening for obstructive sleep apnea to identify the need for a sleep study and subsequent treatment if SDB is diagnosed. Identifier An unambiguous reference to the resource within a given context <a href="http://doi.org/10.1212/WNL.0b013e318297ef18" target="_blank" rel="noreferrer noopener">10.1212/WNL.0b013e318297ef18</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). 2013 adults apnea syndrome breathing difficulties characteristics Copland J Corben L A daytime sleepiness Delatycki M B Disease Friedreich's ataxia Ho M Neurology Neurosciences & Neurology obstructive sleep apnea Reliability Scale Tai G Trajectory