Speech and swallowing abnormalities in adults with POLG associated ataxia (POLG-A)

Vogel, Adam P.; Rommel, Natalie; Oettinger, Andreas; Horger, M.; Krumm, Patrick; Kraus, Eva-Maria; Schöls, Lüdger; Synofzik, Matthis

doi:10.1016/j.mito.2017.06.002

Cited by 20 publications

(13 citation statements)

References 35 publications

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“…Despite this occurrence, no significant relationship was established with ataxia severity (as measured by SARA scores) also in ataxic SCA2 subjects. These data differ to other investigations of dysphagia in ataxia 38 , with CADN scores typically varying in line with disease severity 34 . These results indicate that that dysphagia is independent to or discrete to overall ataxia dysfunction in SCA2 and reflects at least partially a distinct deterioration process within this multisystemic progressive disease (e.g.…”

Section: Discussioncontrasting

confidence: 99%

“…During the early-phase ataxic disease stages of SCA2, dysarthria is characterised by short phrases, irregular articulatory breakdowns, reduced speech agility and speech rate, resulting in reduced intelligibility. Timing deficits observed in early-stages of SCA2 resemble those observed in related ataxia disorders such as Friedreich ataxia 16,32,37 , POLG associated ataxia (POLG-A) 38 and autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) 39 .…”

Section: Discussionmentioning

confidence: 84%

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Features of speech and swallowing dysfunction in pre-ataxic spinocerebellar ataxia type 2

et al. 2020

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ObjectiveTo determine whether objective and quantitative assessment of dysarthria and dysphagia in spinocerebellar ataxia type 2 (SCA2), specifically at pre-ataxic and early disease phases, can act as sensitive disease markers.MethodsForty-six individuals (16 with pre-ataxic SCA2, 14 with early-stage ataxic SCA2, and 16 healthy controls) were recruited in Holguin, Cuba. All participants underwent a comprehensive battery of assessments including objective acoustic analysis, clinician-derived ratings of speech function and swallowing, and quality of life assessments of swallowing.ResultsReduced speech agility manifest at the pre-ataxic stage was observed during diadochokinetic tasks, with the magnitude of speech deficit augmented in the early ataxic stage. Speech rate was slower in early-stage ataxic SCA2 compared with pre-ataxic SCA2 and healthy controls. Reduced speech agility and speech rate correlated with disease severity and time to ataxia onset, verifying that speech deficits occur prior to ataxia onset and increase in severity as the disease progresses. Whereas dysphagia was observed in both pre-ataxic and ataxic SCA2, it was not associated with swallowing-related quality of life, disease severity, or time to ataxia onset.ConclusionsSpeech and swallowing deficits appear sensitive to disease progression in early-stage SCA2, with syllabic rate a viable marker. Findings provide insight into mechanisms of disease progression in early-stage SCA2, signaling an opportunity for stratifying early-stage SCA2 and identifying salient markers of disease onset as well as outcome measures in future early-stage therapeutic studies.

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Section: Discussioncontrasting

confidence: 99%

Section: Discussionmentioning

confidence: 84%

Features of speech and swallowing dysfunction in pre-ataxic spinocerebellar ataxia type 2

et al. 2020

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“…With this information in mind, these deficits are also observed in other hereditary ataxias including FRDA and POLG associated ataxia [84] with some studies proposing that specific speech subsystems devolve at different rates across the disease spectrum [74].…”

Section: A P Vogel Melbourne Australiamentioning

confidence: 89%

Consensus Paper: Neurophysiological Assessments of Ataxias in Daily Practice

Ilg

Branscheidt

Butala³

et al. 2018

Cerebellum

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The purpose of this consensus paper is to review electrophysiological abnormalities and to provide a guideline of neurophysiological assessments in cerebellar ataxias. All authors agree that standard electrophysiological methods should be systematically applied in all cases of ataxia to reveal accompanying peripheral neuropathy, the involvement of the dorsal columns, pyramidal tracts and the brainstem. Electroencephalography should also be considered, although findings are frequently non-specific. Electrophysiology helps define the neuronal systems affected by the disease in an individual patient and to understand the phenotypes of the different types of ataxia on a more general level. As yet, there is no established electrophysiological measure which is sensitive and specific of cerebellar dysfunction in ataxias. The authors agree that cerebellar brain inhibition (CBI), which is based on a paired-pulse transcranial magnetic stimulation (TMS) paradigm assessing cerebellar-cortical connectivity, is likely a useful measure of cerebellar function. Although its role in the investigation and diagnoses of different types of ataxias is unclear, it will be of interest to study its utility in this type of conditions. The authors agree that detailed clinical examination reveals core features of ataxia (i.e., dysarthria, truncal, gait and limb ataxia, oculomotor dysfunction) and is sufficient for formulating a differential diagnosis. Clinical assessment of oculomotor function, especially saccades and the vestibulo-ocular reflex (VOR) which are most easily examined both at the bedside and with quantitative testing techniques, is of particular help for differential diagnosis in many cases. Pure clinical measures, however, are not sensitive enough to reveal minute fluctuations or early treatment response as most relevant for pre-clinical stages of disease which might be amenable to study in future intervention trials. The authors agree that quantitative measures of ataxia are desirable as biomarkers. Methods are discussed that allow quantification of ataxia in laboratory as well as in clinical and real-life settings, for instance at the patients' home. Future studies are needed to demonstrate their usefulness as biomarkers in pharmaceutical or rehabilitation trials.

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“…The SWAL-QOL was considered a suitable reference test on which to validate CADN part one based on several features (i.e., validity, reliability, coverage of relevant domains, interpretability, similarity to CADN part one, and wider acceptance and use by the scientific community and clinicians) as determined by a systematic review of self-reported swallowing assessments in progressive neurological disorders [27]. A conservative but meaningful cut-off, sensitive to any swallowing dysfunction, was determined by examining the scoring breakdown of the SWAL-QOL and by considering outcomes from control data of 112 healthy individuals without neurological illness or physical disability (mean age 44.64y, SD= 17.14; education average 14.61 y, SD= 2.56) [45].…”

Section: Reference Tests and Clinically Meaningful Endpointsmentioning

confidence: 99%

Clinical assessment of dysphagia in neurodegeneration (CADN): development, validity and reliability of a bedside tool for dysphagia assessment

Vogel

Rommel

Sauer³

et al. 2017

J Neurol

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Screening assessments for dysphagia are essential in neurodegenerative disease. Yet there are no purpose-built tools to quantify swallowing deficits at bedside or in clinical trials. A quantifiable, brief, easy to administer assessment that measures the impact of dysphagia and predicts the presence or absence of aspiration is needed. The Clinical Assessment of Dysphagia in Neurodegeneration (CADN) was designed by a multidisciplinary team (neurology, neuropsychology, speech pathology) validated against strict methodological criteria in two neurodegenerative diseases, Parkinson's disease (PD) and degenerative ataxia (DA). CADN comprises two parts, an anamnesis (part one) and consumption (part two). Two-thirds of patients were assessed using reference tests, the SWAL-QOL symptoms subscale (part one) and videofluoroscopic assessment of swallowing (part two). CADN has 11 items and can be administered and scored in an average of 7 min. Test-retest reliability was established using correlation and Bland-Altman plots. 125 patients with a neurodegenerative disease were recruited; 60 PD and 65 DA. Validity was established using ROC graphs and correlations. CADN has sensitivity of 79 and 84% and specificity 71 and 69% for parts one and two, respectively. Significant correlations with disease severity were also observed (p < 0.001) for PD with small to large associations between disease severity and CADN scores for DA. Cutoff scores were identified that signal the presence of clinically meaningful dysphagia symptomatology and risk of aspiration. The CADN is a reliable, valid, brief, quantifiable, and easily deployed assessment of swallowing in neurodegenerative disease. It is thus ideally suited for both clinical bedside assessment and future multicentre clinical trials in neurodegenerative disease.

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Speech and swallowing abnormalities in adults with POLG associated ataxia (POLG-A)

Cited by 20 publications

References 35 publications

Features of speech and swallowing dysfunction in pre-ataxic spinocerebellar ataxia type 2

Features of speech and swallowing dysfunction in pre-ataxic spinocerebellar ataxia type 2

Consensus Paper: Neurophysiological Assessments of Ataxias in Daily Practice

Clinical assessment of dysphagia in neurodegeneration (CADN): development, validity and reliability of a bedside tool for dysphagia assessment

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