From prodromal stages to clinical trials: The promise of digital speech biomarkers in Parkinson's disease
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Cited by 3 publications
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A methodological framework and exemplar protocol for the collection and analysis of repeated speech samples (Preprint)
BACKGROUND Speech and language biomarkers have the potential to be regular, objective assessments of symptom severity in several neurological and mental health conditions, both in-clinic and remotely using mobile devices. However, the complex nature of speech and often subtle changes associated with health mean that findings are highly dependent on methodological and cohort choices. These are often not reported adequately in studies investigating speech-based health assessment, which (i) hinders the progress of methodological speech research, (ii) prevents replication, and (iii) makes the definitive identification of robust biomarkers problematic. OBJECTIVE 1. To facilitate replicable speech research by presenting an adaptable speech collection and analytical method and design checklist for other researchers to adapt for their own experiments. 2. To develop and apply an exemplar protocol that reduces and controls for confounding factors in repeated recordings of healthy speech, including device choice, speech elicitation task and non-pathological variability. METHODS We developed a collection protocol based on a thematic literature review. Our protocol comprises the elicitation of (1) read speech, (2) held vowels, and (3) a picture description. With a focus towards remote applications, we collected speech with different devices: a freestanding condenser microphone, three smartphones and a headset. We developed and report in detail a pipeline to extract a set of 14 exemplar speech features, also chosen via a thematic literature review, that cover timing, prosodic, quality, articulatory, and spectral characteristics of speech. RESULTS We collected healthy speech from 28 individuals three times in one day, repeated at the same times 8-11 weeks later, and from 25 individuals on three days in one week at fixed times. Participant characteristics collected included sex, age, native language status, and the participant’s voice use habits. Before each recording, we collected information on recent voice use, food and drink intake, and emotional state. Recording times were also documented. Values of the extracted features are presented providing a resource of normative values. CONCLUSIONS Speech data collection, processing, analysis and reporting towards clinical research and practice varies widely, motivating this report and speech collection protocol design checklist. Greater harmonization of study protocols and consistent reporting are urgently required to translate speech processing into clinical research and practice.
A methodological framework and exemplar protocol for the collection and analysis of repeated speech samples (Preprint)
BACKGROUND Speech and language biomarkers have the potential to be regular, objective assessments of symptom severity in several neurological and mental health conditions, both in-clinic and remotely using mobile devices. However, the complex nature of speech and often subtle changes associated with health mean that findings are highly dependent on methodological and cohort choices. These are often not reported adequately in studies investigating speech-based health assessment, which (i) hinders the progress of methodological speech research, (ii) prevents replication, and (iii) makes the definitive identification of robust biomarkers problematic. OBJECTIVE 1. To facilitate replicable speech research by presenting an adaptable speech collection and analytical method and design checklist for other researchers to adapt for their own experiments. 2. To develop and apply an exemplar protocol that reduces and controls for confounding factors in repeated recordings of healthy speech, including device choice, speech elicitation task and non-pathological variability. METHODS We developed a collection protocol based on a thematic literature review. Our protocol comprises the elicitation of (1) read speech, (2) held vowels, and (3) a picture description. With a focus towards remote applications, we collected speech with different devices: a freestanding condenser microphone, three smartphones and a headset. We developed and report in detail a pipeline to extract a set of 14 exemplar speech features, also chosen via a thematic literature review, that cover timing, prosodic, quality, articulatory, and spectral characteristics of speech. RESULTS We collected healthy speech from 28 individuals three times in one day, repeated at the same times 8-11 weeks later, and from 25 individuals on three days in one week at fixed times. Participant characteristics collected included sex, age, native language status, and the participant’s voice use habits. Before each recording, we collected information on recent voice use, food and drink intake, and emotional state. Recording times were also documented. Values of the extracted features are presented providing a resource of normative values. CONCLUSIONS Speech data collection, processing, analysis and reporting towards clinical research and practice varies widely, motivating this report and speech collection protocol design checklist. Greater harmonization of study protocols and consistent reporting are urgently required to translate speech processing into clinical research and practice.
Reflexive eye saccadic parameters in Parkinson’s disease
IntroductionAbnormal reactive saccade, with reduced saccadic gain, impaired smooth pursuit, and unwarranted reactions are clinically used to assess people with Parkinson’s disease (PwPD). However, there are inconsistent findings related to other saccade parameters such as latency and transition times. This study aimed to identify differences in the reflexive saccade parameters of early stage PwPD and aged-matched control (AMC).MethodsIn this observational study, the reactive eye-gaze was recorded for 70 participants (42 PwPD) and parameters of reflexive saccades and eye-gaze fluctuations were extracted. These parameters were then statistically analyzed using the Mann–Whitney U-test.ResultsResults showed that PwPD had significantly shorter latency than AMC for reflexive saccadic movement away from the center of the screen. The overshoot as a fraction of the screen width, a measure of the inaccuracy in reaching the target, was also significantly higher for PwPD. PwPD had greater horizontal and vertical eye gaze fluctuation with a steady target. The numbers of invalid saccades, i.e., when the gaze goes in the opposite direction from the target movement or is considered anticipatory, were similar for both groups; PwPD with 33.43% and AMC with 25.71%.DiscussionThis study shows that there are significant differences in the reflexive saccade of PwPD and AMC measured using an inexpensive eye-tracking device. The presence of invalid saccade trials, and differences between towards and away from screen center, both of which were not considered in earlier studies, may explain the discrepancies between earlier studies. The outcome of this study has the potential to be made a device that would assist neurologists in the assessment of PwPD.
The Newborn Screening Programme Revisited: An Expert Opinion on the Challenges of Rett Syndrome
Genomic sequencing has the potential to revolutionise newborn screening (NBS) programmes. In 2024, Genomics England began to recruit for the Generation Study (GS), which uses whole genome sequencing (WGS) to detect genetic changes in 500 genes in more than 200 rare conditions. Ultimately, its purpose is to facilitate the earlier identification of rare conditions and thereby improve health-related outcomes for individuals. The adoption of rare conditions into the GS was guided by four criteria: (1) the gene causing the condition can be reliably detected; (2) if undiagnosed, the rare condition would have a serious impact; (3) early or presymptomatic testing would substantially improve outcomes; and (4) interventions for conditions screened are accessible to all. Rett syndrome (RTT, OMIM 312750), a paediatric neurodevelopment disorder, was not included in the list of rare conditions in the GS. In this opinion article, we revisit the GS and discuss RTT from the perspective of these four criteria. We begin with an introduction to the GS and then summarise key points about the four principles, presenting challenges and opportunities for individuals with RTT. We provide insight into how data could be collected during the presymptomatic phase, which could facilitate early diagnosis and improve our understanding of the prodromal stage of RTT. Although many features of RTT present a departure from criteria adopted by the GS, advances in RTT research, combined with advocacy from parent-based organisations, could facilitate its entry into future newborn screening programmes.
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