Hypokinetic dysarthria (HD) is a difficult-to-treat symptom affecting quality of life in patients with Parkinson's disease (PD). Levodopa may partially alleviate some symptoms of HD in PD, but the neural correlates of these effects are not fully understood. The aim of our study was to identify neural mechanisms by which levodopa affects articulation and prosody in patients with PD. Altogether 20 PD patients participated in a task fMRI study (overt sentence reading). Using a single dose of levodopa after an overnight withdrawal of dopaminergic medication, levodopa-induced BOLD signal changes within the articulatory pathway (in regions of interest; ROIs) were studied. We also correlated levodopa-induced BOLD signal changes with the changes in acoustic parameters of speech. We observed no significant changes in acoustic parameters due to acute levodopa administration. After levodopa administration as compared to the OFF dopaminergic condition, patients showed task-induced BOLD signal decreases in the left ventral thalamus (p = 0.0033). The changes in thalamic activation were associated with changes in pitch variation (R = 0.67, p = 0.006), while the changes in caudate nucleus activation were related to changes in the second formant variability which evaluates precise articulation (R = 0.70, p = 0.003). The results are in line with the notion that levodopa does not have a major impact on HD in PD, but it may induce neural changes within the basal ganglia circuitries that are related to changes in speech prosody and articulation.
- MeSH
- antiparkinsonika škodlivé účinky MeSH
- dysartrie etiologie komplikace MeSH
- kvalita života MeSH
- levodopa * škodlivé účinky MeSH
- lidé MeSH
- magnetická rezonanční tomografie metody MeSH
- Parkinsonova nemoc * komplikace diagnostické zobrazování farmakoterapie MeSH
- poruchy řeči diagnostické zobrazování etiologie MeSH
- řeč fyziologie MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
INTRODUCTION: Hypokinetic dysarthria (HD) is a common motor speech symptom of Parkinson's disease (PD) which does not respond well to PD treatments. We investigated short-term effects of transcranial direct current stimulation (tDCS) on HD in PD using acoustic analysis of speech. Based on our previous studies we focused on stimulation of the right superior temporal gyrus (STG) - an auditory feedback area. METHODS: In 14 PD patients with HD, we applied anodal, cathodal and sham tDCS to the right STG using a cross-over design. A protocol consisting of speech tasks was performed prior to and immediately after each stimulation session. Linear mixed models were used for the evaluation of the effects of each stimulation condition on the relative change of acoustic parameters. We also performed a simulation of the mean electric field induced by tDCS. RESULTS: Linear mixed model showed a statistically significant effect of the stimulation condition on the relative change of median duration of silences longer than 50 ms (p = 0.015). The relative change after the anodal stimulation (mean = -5.9) was significantly lower as compared to the relative change after the sham stimulation (mean = 12.8), p = 0.014. We also found a correlation between the mean electric field magnitude in the right STG and improvement of articulation precision after anodal tDCS (R = 0.637; p = 0.019). CONCLUSIONS: The exploratory study showed that anodal tDCS applied over the auditory feedback area may lead to shorter pauses in a speech of PD patients.
- MeSH
- dysartrie etiologie terapie patofyziologie MeSH
- klinické křížové studie MeSH
- lidé středního věku MeSH
- lidé MeSH
- Parkinsonova nemoc * terapie komplikace patofyziologie MeSH
- pilotní projekty MeSH
- přímá transkraniální stimulace mozku * MeSH
- řeč fyziologie MeSH
- senioři MeSH
- spánkový lalok patofyziologie MeSH
- výsledek terapie MeSH
- Check Tag
- lidé středního věku MeSH
- lidé MeSH
- mužské pohlaví MeSH
- senioři MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
Mitochondrial membrane protein-associated neurodegeneration (MPAN) is an ultraorphan neurogenetic disease from the group of neurodegeneration with brain iron accumulation (NBIA) disorders. Here we report cross-sectional and longitudinal data to define the phenotype, to assess disease progression and to estimate sample sizes for clinical trials. We enrolled patients with genetically confirmed MPAN from the Treat Iron-Related Childhood-Onset Neurodegeneration (TIRCON) registry and cohort study, and from additional sites. Linear mixed-effect modelling (LMEM) was used to calculate annual progression rates for the Unified Parkinson's Disease Rating Scale (UPDRS), Barry-Albright Dystonia (BAD) scale, Schwab and England Activities of Daily Living (SE-ADL) scale and the Pediatric Quality of Life Inventory (PedsQL). We investigated 85 MPAN patients cross-sectionally, with functional outcome data collected in 45. Median age at onset was 9 years and the median diagnostic delay was 5 years. The most common findings were gait disturbance (99%), pyramidal involvement (95%), dysarthria (90%), vision disturbances (82%), with all but dysarthria presenting early in the disease course. After 16 years with the disease, 50% of patients were wheelchair dependent. LMEM showed an annual progression rate of 4.5 points in total UPDRS. The total BAD scale score showed no significant progression over time. The SE-ADL scale and the patient- and parent-reported PedsQL showed a decline of 3.9%, 2.14 and 2.05 points, respectively. No patient subpopulations were identified based on longitudinal trajectories. Our cross-sectional results define the order of onset and frequency of symptoms in MPAN, which will inform the diagnostic process, help to shorten diagnostic delay and aid in counselling patients, parents and caregivers. Our longitudinal findings define the natural history of MPAN, reveal the most responsive outcomes and highlight the need for an MPAN-specific rating approach. Our sample size estimations inform the design of upcoming clinical trials.
- MeSH
- činnosti denního života MeSH
- dítě MeSH
- dysartrie MeSH
- dystonické poruchy * MeSH
- dystonie * MeSH
- fenotyp MeSH
- kohortové studie MeSH
- kvalita života MeSH
- lidé MeSH
- membránové proteiny genetika MeSH
- mitochondriální membrány MeSH
- mutace genetika MeSH
- neurodegenerativní nemoci * genetika MeSH
- opožděná diagnóza MeSH
- průřezové studie MeSH
- Check Tag
- dítě MeSH
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
BACKGROUND AND PURPOSE: In our previous study, repeated sessions of repetitive transcranial magnetic stimulation (rTMS) over the auditory feedback area were shown to improve hypokinetic dysarthria (HD) in Parkinson's disease (PD) and led to changes in functional connectivity within the left-sided articulatory networks. We analyzed data from this previous study and assessed the effects of rTMS for HD in PD on the diffusion parameters of the left anterior arcuate fasciculus (AAF), which connects the auditory feedback area with motor regions involved in articulation. METHODS: Patients were assigned to 10 sessions of real or sham 1-Hz stimulation over the right posterior superior temporal gyrus. Stimulation effects were evaluated using magnetic resonance diffusion tensor imaging and by a speech therapist using a validated tool (Phonetics score of the Dysarthric Profile) at baseline, immediately after 2 weeks of stimulation, and at follow-up visits at Weeks 6 and 10 after the baseline. RESULTS: Altogether, data from 33 patients were analyzed. A linear mixed model revealed significant time-by-group interaction (p = 0.006) for the relative changes of fractional anisotropy of the AAF; the value increases were associated with the temporal evolution of the Phonetics score (R = 0.367, p = 0.028) in the real stimulation group. CONCLUSIONS: Real rTMS treatment for HD in PD as compared to sham stimulation led to increases of white matter integrity of the auditory-motor loop during the 2-month follow-up period. The changes were related to motor speech improvements.
- Klíčová slova
- sociální rehabilitace,
- MeSH
- dysartrie etiologie MeSH
- lidé MeSH
- posuzování pracovní neschopnosti MeSH
- rehabilitace po cévní mozkové příhodě * metody psychologie MeSH
- sociální práce * metody MeSH
- sociální zabezpečení MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- kazuistiky MeSH
- přehledy MeSH
BACKGROUND: Symmetric biphasic pulses have been shown to acutely increase the therapeutic window of ventralis intermedius deep brain stimulation (Vim-DBS) for essential tremor (ET) compared to cathodic pulses. Acute supratherapeutic stimulation can induce ataxic side effects in Vim-DBS. OBJECTIVE: To investigate the effect on tremor, ataxia and dysarthria of 3 h of biphasic stimulation in patients with DBS for ET. METHODS: A randomized, doubled-blind, cross-over design was used to compare standard cathodic pulses with symmetric biphasic pulses (anode-first) during a 3-h period per pulse shape. During each 3-h period, all stimulation parameters were identical, except for the pulse shape. Tremor (Fahn-Tolosa-Marin Tremor Rating Scale), ataxia (International Cooperative Ataxia Rating Scale) and speech (acoustic and perceptual measures) were assessed hourly during the 3-h periods. RESULTS: Twelve ET patients were included. During the 3-h stimulation period, tremor control was equivalent between the two pulse shapes. Biphasic pulses elicited significantly less ataxia than cathodic pulses (p = 0.006). Diadochokinesis rate of speech was better for the biphasic pulse (p = 0.048), but other measures for dysarthria were not significantly different between the pulses. CONCLUSION: Symmetric biphasic pulses induce less ataxia than conventional pulses after 3 h of stimulation DBS in ET patients.
- MeSH
- ataxie etiologie MeSH
- dysartrie etiologie MeSH
- elektrody MeSH
- esenciální tremor * terapie etiologie MeSH
- hluboká mozková stimulace * škodlivé účinky MeSH
- lidé MeSH
- nuclei ventrales thalami chirurgie MeSH
- tremor etiologie MeSH
- výsledek terapie MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
- randomizované kontrolované studie MeSH
Parkinson's disease (PD) is a neurodegenerative condition with constantly increasing prevalence rates, affecting strongly life quality in terms of neuromotor and cognitive performance. PD symptoms include voice and speech alterations, known as hypokinetic dysarthria (HD). Unstable phonation is one of the manifestations of HD. Repetitive transcranial magnetic stimulation (rTMS) is a rehabilitative treatment thathas been shown to improve some motor and non-motor symptoms of persons with PD (PwP). This study analyzed the phonation functional behavior of 18 participants (13 males, 5 females) with PD diagnosis before (one pre-stimulus) and after (four post-stimulus) evaluation sessions of rTMS treatment, to assess the extent of changes in their phonation stability. Participants were randomized 1:1 to receive either rTMS or sham stimulation. Voice recordings of a sustained vowel [a:] taken immediately before and after the treatment, and at follow-up evaluation sessions (immediately after, at six, ten, and fourteen weeks after the baseline assessment) were processed by inverse filtering to estimate a biomechanical correlate of vocal fold tension. This estimate was further band-pass filtered into EEG-related frequency bands. Log-likelihood ratios (LLRs) between pre- and post-stimulus amplitude distributions of each frequency band showed significant differences in five cases actively stimulated. Seven cases submitted to the sham protocol did not show relevant improvements in phonation instability. Conversely, four active cases did not show phonation improvements, whereas two sham cases did. The study provides early preliminary insights into the capability of phonation quality assessment by monitoring neuromechanical activity from acoustic signals in frequency bands aligned with EEG ones.
- MeSH
- dysartrie MeSH
- elektroencefalografie MeSH
- fonace MeSH
- lidé MeSH
- Parkinsonova nemoc * MeSH
- pilotní projekty MeSH
- transkraniální magnetická stimulace metody MeSH
- Check Tag
- lidé MeSH
- mužské pohlaví MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- randomizované kontrolované studie MeSH
V kazuistice popisujeme případ 83leté polymorbidní geriatrické pacientky, u níž byla nově diagnostikována myasthenia gravis s predominantním okulobulbárním postižením. Pacientka se prezentovala minimální dysfagií a dysartrií dlouhodobějšího charakteru, k jejichž přechodné akcentaci došlo vlivem operační zátěže. Klíčovým momentem na cestě k diagnóze bylo opětovné zhoršení dysfagických potíží po podání antibiotik interferujících s neuromuskulárním přenosem. Diagnostika byla značně komplikována vlivem četných interních komorbidit, které modifikovaly celkový klinický obraz. Definitivní potvrzení diagnózy přinesla pozitivita autoprotilátek anti-AChR.
In the case report, we describe the case of an 83-year-old polymorbid geriatric patient with newly diagnosed myasthenia gravis with predominant oculobulbar involvement. The patient presented with long-term mild dysphagia and dysarthria with an acute exacerbation after surgery. An episode of worsening dysphagia after the administration of antibiotics interfering with neuromuscular transmission represented an important moment leading to the correct diagnosis. The diagnostic process was complicated by a number of internal comorbidities which modified the entire clinical manifestation. The definitive diagnosis was established on the basis of positivity of anti-AChR autoantibodies.
- MeSH
- antibakteriální látky škodlivé účinky MeSH
- cholinesterasové inhibitory MeSH
- diferenciální diagnóza MeSH
- dysartrie etiologie MeSH
- lidé MeSH
- myasthenia gravis * diagnóza farmakoterapie patologie MeSH
- náhrada kyčelního kloubu MeSH
- pooperační komplikace MeSH
- poruchy polykání etiologie MeSH
- pyridostigmin-bromid terapeutické užití MeSH
- senioři nad 80 let MeSH
- Check Tag
- lidé MeSH
- senioři nad 80 let MeSH
- ženské pohlaví MeSH
- Publikační typ
- kazuistiky MeSH
PURPOSE: This study aimed to evaluate whether long-term averaged spectrum (LTAS) descriptors for reading and monologue are suitable to detect worsening of dysarthria in patients with Parkinson's disease (PD) treated with subthalamic nucleus deep brain stimulation (STN-DBS) with potential effect of ON and OFF stimulation conditions and types of connected speech. METHOD: Four spectral moments based on LTAS were computed for monologue and reading passage collected from 23 individuals with PD treated with bilateral STN-DBS and 23 age- and gender-matched healthy controls. Speech performance of patients with PD was compared in ON and OFF STN-DBS conditions. RESULTS: All LTAS spectral moments including mean, standard deviation, skewness, and kurtosis across both monologue and reading passage were able to significantly distinguish between patients with PD in both stimulation conditions and control speakers. The spectral mean was the only LTAS measure sensitive to capture better speech performance in STN-DBS ON, as compared to the STN-DBS OFF stimulation condition (p < .05). Standardized reading passage was more sensitive compared to monologue in detecting dysarthria severity via LTAS descriptors with an area under the curve of up to 0.92 obtained between PD and control groups. CONCLUSIONS: Our findings confirmed that LTAS is a suitable approach to objectively describe changes in speech impairment severity due to STN-DBS therapy in patients with PD. We envisage these results as an important step toward a continuum development of technological solutions for the automated assessment of stimulation-induced dysarthria. SUPPLEMENTAL MATERIAL: https://doi.org/10.23641/asha.21644798.
Předkládané kazuistiky seznamují s možnostmi využití pomůcek alternativní a augmentativní komunikace u dětí s kombinovaným postižením a symptomatickou poruchou řeči. Představíme a porovnáme náhradní způsoby komunikace u dvou chlapců s vývojovou anartrií. První případová studie se věnuje dítěti se syndromem Lesch-Nyhan, druhá chlapci s vývojovou poruchou centrálního nervového systému. Naším cílem je ukázat hledání cest k funkční komunikaci a rozvoji dítěte, které není schopné mluvené řeči.
We introduce the application of alternative and augmentative communication aids in children with combined disabilities and symptomatic speech disorders. We will briefly introduce and compare alternative routes of communication in two boys with developmental anarthria. The first case study is devoted to a child with Lesch-Nyhan syndrome, the second to a boy with a developmental disorder of the central nervous system. Our goal is to map the avenues for functional communication and the development of a child unable to speak.
- MeSH
- dítě MeSH
- dysartrie * terapie MeSH
- komunikace MeSH
- Leschův-Nyhanův syndrom komplikace terapie MeSH
- lidé MeSH
- mladiství MeSH
- pomůcky pro komunikaci postižených * MeSH
- poruchy řeči * terapie MeSH
- řečová terapie metody MeSH
- výsledek terapie MeSH
- Check Tag
- dítě MeSH
- lidé MeSH
- mladiství MeSH
- mužské pohlaví MeSH
- Publikační typ
- kazuistiky MeSH
