Dysarthria in Friedreich’s Ataxia: A Perceptual Analysis

Abstract

The aims of this study were to: (1) evaluate the perceptual speech dimensions, speech intelligibility and dysarthria severity of a group of individuals diagnosed with Friedreich’s ataxia (FRDA); (2) determine the presence of subgroups within FRDA dysarthria; (3) investigate the relationship between the speech outcome and the clinical factors of disease progression. The study included 38 individuals (21 female, 17 male) with a confirmed diagnosis of FRDA. A group of 20 non-neurologically impaired individuals served as controls. Perceptual analysis, investigating 30 different dimensions of speech, was conducted on a speech sample obtained from each participant. In addition, the Assessment of Intelligibility of Dysarthria Speech was administered. All FRDA participants presented with dysarthria with severities ranging from mild to moderate. Cluster analysis revealed 3 subgroups, the first presenting with mild dysarthric symptoms, the second with increased velopharyngeal involvement and the third characterized by increased laryngeal dysfunction. Dysarthria severity showed a significant correlation to disease duration but to no other clinical measure. The findings support the notion of subgroups in FRDA dysarthria, representing distinct impairments of the speech mechanism and perhaps reflective of differing evolutions beyond the cerebellum.

Consensus clinical management guidelines for Friedreich ataxia

“…periodic leg movements can be excluded.B [27]Secondary causes of RLS should be excluded, in particular, a drug history should be taken and serum ferritin measurement should be undertaken.B [27]Initial treatment of RLS should consider the needs of the patient, the severity of the symptoms, the relative significance of the reported effects of the treatment and the level of dysfunction attributable to RLS.A [28] 1.6 Mobility Recommendations Grade Mobility, balance, core stability, trunk control, spasticity, foot position and strength should be assessed by a suitably qualified physical therapist.GPPThe impact of spasticity of lower limbs on mobility should be evaluated when assessing gait.GPPFoot and ankle posture should be assessed by a suitably qualified physical therapist and treated proactively.D [5,29]Strategies such as an appropriate exercise program, aquatic physical therapy and stretches may be implemented to prolong ambulation and reduce the number of falls in people with FRDA.D [30,31]Individuals with FRDA dependent on a wheelchair for mobility may still benefit from rehabilitation to improve their mobility.D [31]Botulinum toxin and prescription of ankle-foot orthotics may be useful in reducing the impact of spasticity during mobility and will help maintain good foot alignment for mobility.GPPGait aid provision may prolong the capacity to walk. A heavy/weighted gait-aid may be a beneficial for some individuals with FRDA.GPPStanding frame and tilt table may be used to maintain foot alignment to enable independent transfers.GPPAn inpatient rehabilitation program may prolong mobility and transfer ability.D [31] 1.7 Dysarthria Recommendations Grade People with FRDA should undergo a comprehensive communication evaluation by a speech and language pathologist at the time of diagnosis or symptom onset and thereafter undertake review assessments to monitor performance.C [32]Instruction in environmental modification may be beneficial for individuals with motor speech difficulties.C [33]Participation in intensive and systematic behavior therapy may be beneficial to people with FRDA with dysarthria.C [33]Traditional non-systematic behavioral therapy may not be helpful for mitigating the effects of progressive dysarthria.GPP 1.8 Dysphagia Recommendations Grade People with FRDA should undergo a comprehensive swallowing evaluation by a speech and language pathologist ...…”

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.…”

Friedreich Ataxia: current status and future prospects

“…In addition to ataxia of stance and gait, patients develop appendicular and truncal ataxia. Dysarthria is another cerebellar feature present in 70% with abnormal pitch variation, loudness maintenance, breath support for speech, hypernasality and consonant imprecision due to laryngeal or velopharyngeal dysfunction [11]. Loss of deep tendon reflexes due to degeneration of dorsal root ganglia and peripheral neuropathy is an early and robust feature of FA.…”