Dysphagia and swallowing-related quality of life in Friedreich ataxia

Dysphagia in Friedreich ataxia (FRDA) and its impact on quality of life is not adequately understood. The objective of this study was to characterise dysphagia in FRDA and to determine the impact of swallowing dysfunction on activities, participation, and sense of well-being. Thirty-six individuals with a confirmed diagnosis of FRDA were assessed via a clinical bedside examination (CBE), the Royal Brisbane Hospital outcome measure for swallowing, an oral-motor examination and the Australian therapy outcome measures for speech and swallowing (AusTOMS). Data on swallowing function, diet modification and swallowing strategies were collated. Thirty-three (91.67 %) participants exhibited clinical signs of dysphagia according to the CBE, and all participants received ratings indicating swallowing difficulties on at least one other measure. Dysphagia in FRDA is characterised by oral and pharyngeal stage impairment relating to incoordination, weakness and spasticity. A significant positive correlation was found between the severity of impairment, activity, participation and distress/well-being on the AusTOMS, suggesting that swallowing function decreases with overall reductions in quality of life. A significant correlation was found between activity on the AusTOMS and disease duration (r = -0.283, p = 0.012). No significant correlations were found between dysphagia severity and GAA repeat length, age of onset or disease severity. Participants employing diet modification and swallowing strategies demonstrated higher dysphagia severity, activity limitations and participation restrictions. These data advocate a holistic approach to dysphagia management in FRDA. Early detection of swallowing impairment and consideration of the potential impact dysphagia has on quality of life should be key aspects in disease management

Voice in Friedreich Ataxia

BACKGROUND: Friedreich Ataxia (FRDA) is the most common hereditary ataxia, with dysarthria as one of its key clinical signs. OBJECTIVE: To describe the voice profile of individuals with FRDA to inform outcome marker development and goals of speech therapy. METHODS: Thirty-six individuals with FRDA and 30 age-matched controls provided sustained vowel and connected speech samples. Speech and voice samples were analyzed acoustically using the Analysis of Dysphonia in Speech and Voice program and perceptually using the Consensus Auditory-Perceptual Evaluation of Voice form. Correlations between dysphonia and overall dysarthria severity, demographic, clinical, and genetic information were explored. RESULTS: Individuals with FRDA presented with mild dysphonia characterized by hoarseness (combined roughness and breathiness), increased strain, and altered pitch variability (increased in vowel productions; slightly decreased on reading samples). Acoustically, individuals with FRDA had significantly higher scores on the Cepstral Spectral Index of Dysphonia during vowel production. A combination of perceptual and acoustic measures of dysphonia used in this study was quite effective in categorizing the FRDA versus control participants, with >80% overall accuracy. CONCLUSIONS: Although dysphonia severity in FRDA did not correlate significantly with overall disease severity, speaking rate and syllabic duration significantly correlated with age at disease onset and disease duration, and also have an effect on listener perception of dysphonia. The relationship between dysphonia and dysarthria in FRDA suggests that reducing overall dysphonia severity via therapeutic techniques that improve phonatory stability and increase speaking rate is a viable target for speech therapy

Articulatory Kinematics in the Dysarthria Associated with Friedreich's Ataxia

Electromagnetic articulography (EMA) was used to investigate the tongue kinematics in the dysarthria associated with Friedreich's ataxia (FRDA). The subject group consisted of four individuals diagnosed with FRDA. Five nonneurologically impaired individuals, matched for age and gender, served as controls. Each participant was assessed using the AG-200 EMA system during six repetitions of the tongue tip sentence Tess told Dan to stay fit and the tongue back sentence Karl got a croaking frog. Results revealed reduced speed measures (i.e., maximum acceleration / deceleration / velocity), greater movement durations and increased articulatory distances for the approach phases of consonant productions. The approach phase, involving movement up to the palate, was more affected than the release phase. It is suggested that deviant lingual kinematics could be the outcome of disturbances to cerebellar function, or possibly in combination with disturbances to upper motor neuron systems

Women in Turkish family businesses: drivers, contributions and challenges

The number and importance of women in family businesses have increased in the recent years. This is reflected in the growing academic and practitioner interest in the topic. In this paper, we have explored the role of women in family business in the context of Turkey by examining the key drivers for their active involvement, their contribution and the challenges they face. The conceptual framework of the article presents key drivers and challenges identified in the extant literature and introduces additional angles on the problematisation of the topic, mainly issues of succession, conflict and balance of work-life relationships. Drawing on empirical material collected through semi-structured interviews with participant Turkish women, we have highlighted importance of cultural dynamics in analysing drivers, contributions and challenges