Browse Items · Pediatric Palliative Care Library

Functional and gait assessment in children and adolescents affected by Friedreich's ataxia: A one-year longitudinal study

Friedreich's ataxia is the most common autosomal recessive form of neurodegenerative ataxia. We present a longitudinal study on the gait pattern of children and adolescents affected by Friedreich's ataxia using Gait Analysis and the Scale for the…

Measuring Friedreich ataxia: Interrater reliability of a neurologic rating scale

Measuring the severity of neurologic dysfunction in patients with inherited ataxias, including Friedreich ataxia (FA), is difficult because of the variable rate of progression, the variable age at onset and the variety of neural systems that may be…

Urinary, bowel and sexual symptoms in a cohort of patients with Friedreich's ataxia

Background: Pelvic symptoms are distressing symptoms experienced by patients with Friedreich's Ataxia (FRDA). The aim of this study was to describe the prevalence of lower urinary tract symptoms (LUTS), bowel and sexual symptoms in FRDA.Methods:…

Tags: 2017, Bogdanova-Mihaylova P, bowel incontinence, bowel symptoms, characteristics, Emmanuel A, Friedreich's ataxia, Giunti P, Lad M, lower UTI symptoms, Murphy S, Orphanet Journal Of Rare Diseases, Pandolfo M, Panicker J, Parkinson M H, Rai M, Trajectory, urinary incontinence, Walsh R A

Dysphagia in Friedreich Ataxia

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…

Video game-based coordinative training improves ataxia in children with degenerative ataxia

Objective: Degenerative ataxias in children present a rare condition where effective treatments are lacking. Intensive coordinative training based on physiotherapeutic exercises improves degenerative ataxia in adults, but such exercises have…

Tags: 2012, ataxia, balance, Friedreich's ataxia, Giese M A, Ilg W, Neurology, physical intervention, Schatton C, Schicks J, Schols L, Synofzik M, tone and motor problems, video game-based coordinative training

Robotic and clinical evaluation of upper limb motor performance in patients with Friedreich's Ataxia: an observational study

Background: Friedreich's ataxia (FRDA) is the most common hereditary autosomal recessive form of ataxia. In this disease there is early manifestation of gait ataxia, and dysmetria of the arms and legs which causes impairment in daily activities that…

Characterizing gait, locomotor status, and disease severity in children and adolescents with Friedreich ataxia

BACKGROUND AND PURPOSE: The purpose of this study was to describe gait parameters in children and adolescents with a diagnosis of Friedreich ataxia (FA) and examine the relationship between disease severity, measured by the Friedreich Ataxia Rating…

Tags: 2009, characteristics, Croarkin E, DiProspero N, Friedreich's ataxia, Harris-Love M, Journal of Neurologic Physical Therapy, Maring J, Pfalzer L, Siegel K, tone and motor problems, Trajectory

A comparison of three measures of upper limb function in Friedreich ataxia

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…

Tags: 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

Increased prevalence of sleep-disordered breathing in Friedreich ataxia

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:…

Tags: 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

International Cooperative Ataxia Rating Scale (ICARS): Appropriate for studies of Friedreich's ataxia?

Clinicians require scientifically rigorous, clinically meaningful rating scales to evaluate the health impact of disease and treatment that cannot be measured using conventional laboratory instruments. This study evaluated the psychometric properties…

Tags: 2005, Cano S J, Cooper J M, Friedreich's ataxia, Hart P E, Hobart J C, Korlipara L V P, Movement Disorders, scale development, Schapira A H V, tone and motor problems, tool development

Comparison of three clinical rating scales in Friedreich ataxia (FRDA)

To test the validity and reliability of the scale for the assessment and rating of ataxia (SARA) in Friedreich ataxia (FRDA). SARA is limited to eight items and can be performed rapidly. Ninety-six patients with a molecular genetic diagnosis of FRDA…

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