Speech Characteristics in Friedreich’s Ataxia May Be Markers for Future Clinical Trials

While speech difficulties in patients with Friedreich’s ataxia are not linked to the severity of disease, certain speech aspects associated with age at disease onset and disease duration may be valuable for accessing the disease even at mild levels of severity, according to the study “Voice in Friedreich’s Ataxia” recently published in the Journal of Voice.

Findings also suggested that some types of speaking difficulties might be reduced with speech therapy and be used as markers for future clinical trials.

Although plenty of studies have explored speech problems among Friedreich’s ataxia (FA) patients, researchers at the University of Melbourne in Australia noted the absence of a set of comprehensive measures of acoustics and perceptions in speech. Such measures could help develop markers to assess the progress of FA and the patient’s response to speech therapy. They could also guide the development of speech therapy protocols.

The research team recruited 36 patients and 30 healthy controls who provided the team with speech and vowel samples. The acoustics of the recorded samples were analyzed using computer software.

Perceptual analysis was done using the Consensus Auditory-Perceptual Evaluation of Voice form. For judges, the team recruited five graduate students trained in assessing speech disorders. The judges were unaware whether a speech sample belonged to a patient or healthy subject.

The study found that individuals with FA had mild but significant speech impairment. Problems were characterized by hoarseness, increased strain, and abnormal pitch variability. The pitch was found to be increased while speaking vowels but decreased while reading.

People with Friedreich’s ataxia had abnormal levels in several acoustic measurements. Age of onset and disease duration impacted the speed of speech and the duration of syllables. Researchers suggest that the stability of sounds and the speaking rate may be improved by speech therapy.

In contrast, the team found no associations between speech and genetic severity or overall disease severity.

A model that accounted for both acoustic and perceptual parameters that differed the most between patients and controls was able to identify FA patients from healthy controls more than 80 percent of the time.

Researchers agreed that although the impact of  Friedreich’s ataxia progression on voice is currently unknown, understanding how the speech phenotype evolves over time could aid clinical practice and possibly lead to the development of sensitive clinical markers for treatment trials.