Clinical measures of dysarthria in Friedreich Ataxia

Abstract

Dysarthria in Friedreich Ataxia (FA) is difficult to quantify. This study evaluated a series of performance measures for speech in 22 patients with genetically confirmed FA and 16 age-matched controls. Tests included the PATA examination, the PATAKA examination, the Oral Motor component of the Boston Aphasia examination, the Boston Cookie Theft description task, and the Assessment of Intelligibility of Dysarthric Speech. All measures, except the Cookie theft description task, demonstrated significantly lower scores for patients with FA when compared with controls and correlated with measures of disease progression. Thus, four of five measures capture speech dysfunction in FA and may provide feasible, inexpensive, quantitative testing for therapeutic monitoring in FA. Movement Disorder SocietyKey words: ataxia; sensory neuron; dysarthria; balance; clinical trial Friedreich ataxia (FA), an autosomal recessive neurodegenerative disorder, is characterized by ataxia, dysarthria, sensory loss, diabetes, and cardiomyopathy. 3 Scores from each measure are predicted by age and triplet repeat length in linear regression models, strengthening their link with the progressive nature of FA. However, no continuous measure of speech dysfunction is at present adequate for inclusion in such a composite measure. It is important to develop such a measure for assessment of laterstage patients because such patients frequently are too severely impaired to be assessed with most measures of arm and leg function.Although dysarthria is pervasive in FA, the exact neurologic components have been less well defined.4-9 Most speech dysfunction in FA reflects articulation deficits and is frequently classed with apraxic speech in that no true aphasia is present. Diagnostically, repetition of syllables (i.e., PATA), prolonged vowels, classification of changes in intonation, and rate of speech are traditionally used for characterization of ataxic speech. However, patient-related dysfunction may be more closely related to communicative ability and better measured by tests of intelligibility. 10,11 Previous studies show that PATA repetition does not correlate well with disease severity, suggesting that further measures need to be developed. In this work, we evaluated a series of performance measures for speech assessment in patients with FA to assess their reliability, ability to differentiate speech function in patients with FA from controls and correlation with disease progression. PATIENTS AND METHODS SubjectsPatients were recruited from the Children's Hospital of Philadelphia. The institutional review board approved all protocols. Control subjects had no medical history of dysarthria and were category matched by age with patients. Tests were administered by a research techni- In the AIDS, a standardized battery of speech samples was evaluated for intelligibility. In the first part, the subject pronounced 50 words selected from a standardized collection. To ensure consistency for all ages and reading levels, the examiner stated the wor...

The scale for the assessment and rating of ataxia correlates with dysarthria assessment in Friedreich's ataxia

“…Also, we were able to demonstrate a highly significant correlation between the mean total FDA score and ataxia severity, which was measured with SARA. Our findings are in line with Singh and Friedreich's ataxia coworkers [16] who applied a test battery of four speech items comprising the PATA, PATAKA, the oral motor examination, and the 'Assessment of the Intelligibility of Dysarthric Speech' (AIDS) test in FRDA patients. Further analyses of the total FDA score and GAA repeat length and disease duration, respectively, revealed a significant correlation with the GAA repeat length but not with disease duration.…”

“…ADS Adapted Dysarthria Score, FRDA Friedreich's ataxia, SCA Spinocerebellar ataxia, OPCA olivo-ponto-cerebellar atrophy continuity of loudness are prone to be impaired in brainstem disease as well as muscular dysfunction (e.g., myasthenia gravis, amyotrophic lateral sclerosis) [14] while clinical symptoms of cerebellar dysarthria predominantly comprise modulation of pitch or syllable stress [2,15]. Speech rate appears to be impaired in both conditions [15,16]. We found no impairment regarding the continuity of sound levels in SCA patients, whereas abnormal syllable stress was more common than in FRDA.…”

“…We used five linguistic fields of a patient's speech including speech rate (PATA test), syllable stress (e.g., inter-syllable pause duration), articulation (e.g., imprecise consonants), continuity of loudness (e.g., diadochokinetic/ vocal stability rate), and pitch variation (abrupt prosodic changes). The usefulness of these items has been repeatedly shown in earlier studies on articulation and speech assessment in neurologic conditions [13][14][15][16]. Articulation (''slurry speech'') and continuity of speech (i.e., pitch variation) are seriously impaired in brainstem disease and muscular dysfunction (e.g., myasthenia gravis, amyotrophic lateral sclerosis) [14], while classical features of cerebellar dysarthria predominantly comprise problems regarding the modulation of loudness or syllable stress [2,15].…”

“…Articulation (''slurry speech'') and continuity of speech (i.e., pitch variation) are seriously impaired in brainstem disease and muscular dysfunction (e.g., myasthenia gravis, amyotrophic lateral sclerosis) [14], while classical features of cerebellar dysarthria predominantly comprise problems regarding the modulation of loudness or syllable stress [2,15]. In both conditions, speech rate appears to be impaired [15,16]. The final assignment to a patient's prevailing type of dysarthria was done by integrating the values of these five ADS items.…”

Assessment of neurological efficacy of idebenone in pediatric patients with Friedreich's ataxia: data from a 6-month controlled study followed by a 12-month open-label extension study

“…The pronounced improvement of speech function is of particular interest, as FRDA patients clearly develop some degree of dysarthria early in the course of the disease and typically at a young age. In the future, more sophisticated language-assessment strategies [16,17] might help further to analyze the potential of idebenone treatment for this aspect of the disease, which has a clear impact on the patients' quality of life. This might allow the use of speech-and hearingrelated outcome measures as medically relevant endpoints for future clinical trials.…”