Measuring Friedreich ataxia: Interrater reliability of a neurologic rating scale
Adolescent; Adult; Age of Onset; Arm/pp [Physiopathology]; Brain Stem/pp [Physiopathology]; Disease Progression; Female; Friedreich Ataxia/di [Diagnosis]; Friedreich Ataxia/pp [Physiopathology]; Gait Disorders; Neurologic/di [Diagnosis]; Gait Disorders; Neurologic/et [Etiology]; Gait Disorders; tone and motor problems; Friedreich's ataxia; tool development; scale development; Friedrich's Ataxia 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 affected. The authors discuss the problems related to rating scales in the ataxias, report a neurologic rating scale for FA, and demonstrate acceptable interrater reliability of the instrument.
Subramony S H; May W; Lynch D; Gomez C; Fischbeck K; Hallett M; Taylor P; Wilson R; Ashizawa T; Cooperative Ataxia Group
Neurology
2005
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).
<a href="http://doi.org/10.1212/01.WNL.0000156802.15466.79" target="_blank" rel="noreferrer noopener">10.1212/01.WNL.0000156802.15466.79</a>
Health-related quality of life in children with Friedreich ataxia
Adolescent Child Female; Friedreich Ataxia/pp [Physiopathology]; Friedreich Ataxia/px [Psychology]; Friedreich ataxia; Health Status; Humans; Male; Quality of Life/px [Psychology]; tool development; scale development; fatigue; alertness
The use of health-related quality of life scales as outcome measures in clinical trials is increasing. Although such measures have been validated in adults with Friedreich ataxia, they have not been studied in children with this disorder. The health-related quality of life of children with Friedreich ataxia was assessed using the PedsQL 4.0 Generic Core Module and Multidimensional Fatigue Scale. The scores from the Friedreich ataxia cohort were compared to those of control groups (children without a chronic disease). Minimal missing responses support the feasibility of using the PedsQL 4.0 in the Friedreich ataxia population. The scales demonstrated internal consistency, and concordance was observed between child and proxy scores. Children with Friedreich ataxia and their proxies reported lower health-related quality of life than did controls in the Core and Fatigue scales. A modest relationship was seen between markers of disease status and health-related quality of life, providing support for the idea that children with Friedreich ataxia have a lower health-related quality of life than those without a chronic disease. Additional studies are needed to examine the relationship between health-related quality of life and disease markers and to further establish the validity of the PedsQL 4.0 in this population.Copyright 2010 Elsevier Inc. All rights reserved.
Paulsen E K; Friedman L S; Myers L M; Lynch D R
Pediatric Neurology
2010
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).
<a href="http://doi.org/10.1016/j.pediatrneurol.2010.01.002" target="_blank" rel="noreferrer noopener">10.1016/j.pediatrneurol.2010.01.002</a>
Progressive sensorineural hearing loss in children with mitochondrial encephalomyopathies
Child; Female; Humans; Male; Adult; Hearing Loss; Longitudinal Studies; Speech; adolescent; Preschool; IM; Auditory; Evoked Potentials; Acoustic Impedance Tests; Acoustic/ph [Physiology]; Audiometry; Brain Stem/ph [Physiology]; Friedreich Ataxia/di [Diagnosis]; Friedreich Ataxia/pp [Physiopathology]; Kearns-Sayer Syndrome/di [Diagnosis]; Kearns-Sayer Syndrome/pp [Physiopathology]; MELAS Syndrome/di [Diagnosis]; MELAS Syndrome/pp [Physiopathology]; Mitochondrial Encephalomyopathies/di [Diagnosis]; Mitochondrial Encephalomyopathies/pp [Physiopathology]; Otoacoustic Emissions; Pure-Tone; Reflex; Sensorineural/di [Diagnosis]; Sensorineural/pp [Physiopathology]; Spontaneous/ph [Physiology]
OBJECTIVE: Mitochondrial disorders are responsible for a variety of neurological syndromes. Specific mitochondrial DNA mutations have been identified recently in some of these rare disorders. Clinical symptoms may occur in different organs to various extent; often they are associated with progressive hearing loss. The aims of this study were to determine incidence, onset, and characteristics of hearing loss in children with mitochondrial encephalomyopathies and to investigate a possible correlation between the degree of hearing loss and neurological symptoms. In addition, we investigated the prognostic value of hearing loss as a predictor of the disease. STUDY DESIGN: From August 1992 to September 1998, 29 patients ranging in age from 5 to 23 years (mean years) were studied. These children were hospitalized for diagnostic purposes in the neuropediatric department. METHODS: The mitochondrial disorder was diagnosed by clinical and laboratory testings, including analysis of the mtDNA. Audiological evaluation consisted of measurements of pure-tone and speech audiometry, tympanometry, and acoustic refle- threshold testing, auditory brainstem response, and evoked as well as distortion-product otoacoustic emissions. RESULTS: A sensorineural hearing loss was identified in 12 children. Three of these were diagnosed as having classic Kearns-Sayre syndrome; five as having multisystem KSS; two as having the syndrome of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS); one as having KSS-MELAS overlap syndrome; and one as having Friedreich ataxia. Longitudinal testing was performed in seven children, and in all of them a progression of the hearing loss could be demonstrated. Audiological test results in all 12 children suggested cochlear as well as retrocochlear origin of the hearing loss presenting independently from the severity of hearing impairment. No correlation between the characteristics and degrees of hearing loss and the number and severity of clinical neurological symptoms could be found. CONCLUSIONS: The present study demonstrated a high incidence (42%) of sensorineural hearing loss in children with mitochondrial encephalomyopathies. The progressive nature of the hearing impairment was confirmed by a significant correlation between the duration in years and severity of hearing loss in the children. The hearing loss does not have a prognostic value for the progression of the disorder. Based on our findings, we recommend regular audiometric examinations in patients with mitochondrial disorders.
2001
Zwirner P; Wilichowski E
Laryngoscope
2001
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).
Journal Article
<a href="http://doi.org/10.1097/00005537-200103000-00024" target="_blank" rel="noreferrer">10.1097/00005537-200103000-00024</a>