Profiles of Dysarthria and Dysphagia in Individuals With Amyotrophic Lateral Sclerosis.

PURPOSE: While dysarthria and dysphagia are known bulbar manifestations of amyotrophic lateral sclerosis (ALS), the relative prevalence of speech and swallowing impairments and whether these bulbar symptoms emerge at the same time point or progress at similar rates is not yet clear. We, therefore, sought to determine the relative prevalence of speech and swallowing impairments in a cohort of individuals with ALS and to determine the impact of disease duration, severity, and onset type on bulbar impairments. METHOD: Eighty-eight individuals with a confirmed diagnosis of ALS completed the ALS Functional Rating Scale-Revised (ALSFRS-R), underwent videofluoroscopy (VF), and completed the Sentence Intelligibility Test (SIT) during a single visit. Demographic variables including disease duration and onset type were also obtained from participants. Duplicate, independent, and blinded ratings were completed using the Dynamic Imaging Grade of Swallowing Toxicity (DIGEST) scale and SIT to index dysphagia (DIGEST ≥ 1) and dysarthria (< 96% intelligible and/or < 150 words per minute) status. Descriptive statistics, Pearson chi-squared tests, independent-samples t tests, and odds ratios were performed. RESULTS: Dysphagia and dysarthria were instrumentally confirmed in 68% and 78% of individuals with ALS, respectively. Dysarthria and dysphagia were associated (p = .01), and bulbar impairment profile distributions in rank order included (a) dysphagia - dysarthria (59%, n = 52), (b) no dysphagia - dysarthria (19%, n = 17), (c) no dysphagia - no dysarthria (13%, n = 11), and (d) dysphagia - no dysarthria (9%, n = 8). Participants with dysphagia or dysarthria demonstrated 4.2 higher odds of exhibiting a bulbar impairment in the other domain than participants with normal speech and swallowing (95% CI [1.5, 12.2]). There were no differences in ALSFRS-R total scores or disease duration across bulbar impairment profiles (p > .05). ALSFRS-R bulbar subscale scores were significantly lower in individuals with dysphagia versus no dysphagia (8.4 vs. 10.4, p < .0001) and dysarthria versus no dysarthria (8.5 vs. 10.9, p < .0001). Dysphagia and onset type (p = .003) and dysarthria and onset type were associated (p < .0001). CONCLUSIONS: Over half of the individuals with ALS in this study demonstrated both dysphagia and dysarthria. Of those with only one bulbar impairment, speech was twice as likely to be the first bulbar symptom to degrade. Future studies are needed to confirm these findings and determine the longitudinal progression of bulbar impairments in this patient population.

Dysphagia, Dysphonia, and Dysarthria Outcomes Among Adults Hospitalized With COVID-19 Across Ireland.

OBJECTIVE: To investigate the presence, degree, predictors, and trajectory of dysphagia, dysphonia, and dysarthria among adults hospitalized with COVID-19 across the Republic of Ireland (ROI) during the first wave of the pandemic. STUDY DESIGN: Prospective observational cohort study. METHODS: Adults with confirmed COVID-19 who were admitted into 14 participating acute hospitals across ROI and referred to speech and language therapy between March 1st and June 30th, 2020 were recruited. Outcomes obtained at initial SLT evaluation and at discharge were oral intake status (Functional Oral Intake Scale), perceptual voice quality (GRBAS), and global dysarthria rating (Dysarthria Severity Scale). RESULTS: Data from 315 adults were analyzed. At initial SLT assessment, 84% required modified oral diets, and 31% required tube feeding. There were high rates of dysphonia (42%) and dysarthria (23%). History of intubation (OR 19.959, 95% CI 6.272, 63.513; P = .000), COVID-19 neurological manifestations (OR 3.592, 95% CI 1.733, 7.445; P = .001), and age (OR 1.034; 95% CI 1.002, 1.066; P = .036) were predictive of oral intake status. History of intubation was predictive of voice quality (OR 4.250, 95% CI 1.838, 9.827; P = .001) and COVID-19 neurological manifestations were predictive of dysarthria (OR 2.275; 95% CI 1.162, 4.456; P = .017). At discharge, there were significant improvements in oral intake (Z = -7.971; P = .000), voice quality (Z = -5.971; P = .000), and dysarthria severity (Z = -2.619; P = .009), although need for modified oral intake (59%), dysphonia (23%), and dysarthria (14%) persisted. CONCLUSION: Dysphagia, dysphonia, and dysarthria were widespread among adults hospitalized with COVID-19 and they persisted for many at discharge. Prompt SLT evaluation is required to minimize complications. LEVEL OF EVIDENCE: 3 Laryngoscope, 132:1251-1259, 2022.

Swallowing, Oral Motor, Motor Speech, and Language Impairments Following Acute Pediatric Ischemic Stroke.

BACKGROUND AND PURPOSE: Following adult stroke, dysphagia, dysarthria, and aphasia are common sequelae. Little is known about these impairments in pediatric stroke. We assessed frequencies, co-occurrence and associations of dysphagia, oral motor, motor speech, language impairment, and caregiver burden in pediatric stroke. METHODS: Consecutive acute patients from term birth-18 years, hospitalized for arterial ischemic stroke (AIS), and cerebral sinovenous thrombosis, from January 2013 to November 2018 were included. Two raters reviewed patient charts to detect documentation of in-hospital dysphagia, oral motor dysfunction, motor speech and language impairment, and caregiver burden, using a priori operational definitions for notation and assessment findings. Other variables abstracted included demographics, preexisting conditions, stroke characteristics, and discharge disposition. Impairment frequencies were obtained by univariate and bivariate analysis and associations by simple logistic regression. RESULTS: A total of 173 patients were stratified into neonates (N=67, mean age 2.9 days, 54 AIS, 15 cerebral sinovenous thrombosis) and children (N=106, mean age 6.5 years, 73 AIS, 35 cerebral sinovenous thrombosis). Derived frequencies of impairments included dysphagia (39% neonates, 41% children); oral motor (6% neonates, 41% children); motor speech (37% children); and language (31% children). Common overlapping impairments included oral motor and motor speech (24%) and dysphagia and motor speech (23%) in children. Associations were found only in children between stroke type (AIS over cerebral sinovenous thrombosis) and AIS severity (more severe deficit at presentation) for all impairments except feeding impairment alone. Caregiver burden was present in 58% patients. CONCLUSIONS: For the first time, we systematically report the frequencies and associations of dysphagia, oral motor, motor speech, and language impairment during acute presentation of pediatric stroke, ranging from 30% to 40% for each impairment. Further research is needed to determine long-term effects of these impairments and to design standardized age-specific assessment protocols for early recognition following stroke.

Dysphagia, dysarthria and aphasia following a first acute ischaemic stroke: incidence and associated factors.

BACKGROUND AND PURPOSE: Dysphagia, dysarthria and aphasia are common symptoms following acute stroke; however, limited data are available from recent prospective clinical trials. The aim of this study was to determine the incidence and associated factors of dysphagia, dysarthria and aphasia following a first acute ischaemic stroke in patients admitted to a comprehensive stroke center. METHODS: All first ischaemic stroke patients admitted to the Stroke Unit of Ghent University Hospital within 48 h after symptom onset were enrolled in this prospective study between March 2018 and October 2019. Dysphagia and communication screenings were performed within 3 days after admission. When dysphagia, dysarthria and/or aphasia were assumed, standardized assessments were performed. Incidence rates were calculated as point estimates (%) with 95% confidence intervals (CI). Associated factors were calculated via multivariate binary logistic regression analyses. RESULTS: Dysphagia, dysarthria and aphasia were present in 23% (95% CI, 17-31), 44% (95% CI, 37-52) and 23% (95% CI, 17-30), respectively of 151 first ischaemic stroke patients [67 female, mean age 67 (SD 14) years]. Separate multivariate binary logistic regression analyses showed that dysphagia, dysarthria and aphasia were significantly associated with age-adjusted stroke severity at baseline [odds ratio (OR), 1.16; 95% CI, 1.09-1.23; OR, 1.13; 95% CI, 1.07-1.20 and OR, 1.11; 95% CI, 1.05-1.17 respectively]. Corrected for stroke severity, the risk for aphasia increased by 4% per year of age (OR, 1.04; 95% CI, 1.00-1.07). Adjusted for age and stroke severity, aphasia was significantly associated with large artery atherosclerosis as stroke etiology (OR, 3.91; 95% CI, 1.18-12.98). CONCLUSIONS: This trial showed a high incidence of dysphagia, dysarthria and aphasia following acute ischaemic stroke. Stroke severity was an associated factor for all three symptoms.

Brain morphological changes in hypokinetic dysarthria of Parkinson's disease and use of machine learning to predict severity.

BACKGROUND: Up to 90% of patients with Parkinson's disease (PD) eventually develop the speech and voice disorder referred to as hypokinetic dysarthria (HD). However, the brain morphological changes associated with HD have not been investigated. Moreover, no reliable model for predicting the severity of HD based on neuroimaging has yet been developed. METHODS: A total of 134 PD patients were included in this study and divided into a training set and a test set. All participants underwent a structural magnetic resonance imaging (MRI) scan and neuropsychological evaluation. Individual cortical thickness, subcortical structure, and white matter volume were extracted, and their association with HD severity was analyzed. After feature selection, a machine-learning model was established using a support vector machine in the training set. The severity of HD was then predicted in the test set. RESULTS: Atrophy of the right precentral cortex and the right fusiform gyrus was significantly associated with HD. No association was found between HD and volume of white matter or subcortical structures. Favorable and optimal performance of machine learning on HD severity prediction was achieved using feature selection, giving a correlation coefficient (r) of .7516 and a coefficient of determination (R2 ) of .5649 (P < .001). CONCLUSION: The brain morphological changes were associated with HD. Excellent prediction of the severity of HD was achieved using machine learning based on neuroimaging.

Dysphagia and Dysarthria in Children with Neuromuscular Diseases, a Prevalence Study.

BACKGROUND: Dysphagia and dysarthria are frequently described in pediatric neuromuscular diseases (pNMD). The consequences can be substantial: failure to thrive, malnutrition, aspiration pneumonia, or communication problems. Early detection and identification of risk factors and etiology support preventing complications and morbidity, including impact on quality of life. Information about the prevalence of dysphagia and dysarthria in pNMD is scarce. OBJECTIVE: To describe the pooled prevalence of dysphagia and dysarthria in pNMD in the Netherlands. In addition, we describe the prevalence of dysphagia and dysarthria each, and the prevalence of chewing (oral) and swallowing problems per diagnostic group, based on their anatomic origin. METHODS: Data were collected from 295 children (mean age 11;0 years, range 2;6-18;0) with pNMD in 12 hospitals and rehabilitation centers in the Netherlands. A speech language therapist established whether dysphagia and dysarthria were present or not. RESULTS: In almost all the 14 diagnostic groups of pNMD, dysphagia and dysarthria were present. Pooled overall prevalence of dysphagia and dysarthria was 47.2% and 31.5%, respectively. Of 114 children with dysphagia, 90.0% had chewing problems, 43.0% showed swallowing problems and 33.3% showed both chewing and swallowing problems. CONCLUSIONS: The overall pooled prevalence of dysphagia and dysarthria was high in the population of pNMD. It can be argued that periodic monitoring of dysphagia and dysarthria and early referral to a speech language therapist should be a necessity from the start of the diagnosis in the whole pNMD population.

Post-stroke dysphagia rehabilitation in the old and oldest old: outcome and relevance for discharge home.

We assessed the outcome of dysphagia rehabilitation in all the 139 patients with post-stroke dysphagia admitted to our Neurorehabilitation Unit during 2 years (2017 and 2018), divided into two groups: old (aged 65-84 years) and oldest-old (aged 85 or above). We studied which factors predicted dysphagia improvement in the two groups. The potential association of improvement with type of discharge was also evaluated. On admission, 'old' patients had more frequently aphasia (P = 0.02) and less frequently dysarthria (P = 0.03); 'oldest old' had more severe pressure ulcers (P = 0.008), higher levels of c reacting protein (P = 0.01) and more heart problems (P = 0.004). None of these factors was associated with the outcome of dysphagia. We found no difference between the two groups in the severity of dysphagia, as measured with Dysphagia Outcome and Severity Scale on admission and discharge, but due to minor differences, the degree of improvement was higher in the 'old' group (P = 0.02). The number of patients discharged with improved swallowing was also comparable. Cognitive impairment had a negative predicting role in the 'old' group (odds ratio 0.270, 95% confidence interval 0.101-0.725, P = 0.007). Norton Scale score predicted dysphagia improvement in the 'oldest old' group (odds ratio 1.611, 95% confidence interval 1.102-2.355, P = 0.007). Dysphagia improvement was associated with discharge home in general (P = 0.011) and in the 'old' group (P = 0.04). Our data, though preliminary, could give a contribution to implement patient-specific rehabilitation strategies; these could increase swallowing improvement in post-stroke dysphagia.

Correlations between swallowing function and acoustic vowel space in stroke patients with dysarthria.

BACKGROUND: Dysphagia and dysarthria tend to coexist in stroke patients. Dysphagia can reduce patients' quality of life, cause aspiration pneumonia and increased mortality. OBJECTIVE: To evaluate correlations among swallowing function parameters and acoustic vowel space values in patients with stroke. METHODS: Data from stroke patients with dysarthria and dysphagia were collected. The formant parameter representing the resonance frequency of the vocal tract as a two-dimensional coordinate point was measured for the /a/, /ae/, /i/, and /u/vowels, and the quadrilateral vowel space area (VSA) and formant centralization ratio (FCR) were measured. Swallowing function was evaluated by a videofluoroscopic swallowing study (VFSS) using the videofluoroscopic dysphagia scale (VDS) and penetration aspiration scale (PAS). Pearson's correlation and linear regression analyses were used to assess the correlation of VSA and FCR to VDS and PAS scores. RESULTS: Thirty-one stroke patients with dysphagia and dysarthria were analyzed. VSA showed a negative correlation to VDS and PAS scores, while FCR showed a positive correlation to VDS score, but not to PAS score. VSA and FCR were significant factors for assessing dysphagia severity. CONCLUSIONS: VSA and FCR values were correlated with swallowing function and may be helpful in predicting dysphagia severity associated with stroke.

Prospective Investigation of Incidence and Co-Occurrence of Dysphagia, Dysarthria, and Aphasia Following Ischemic Stroke.

Purpose The high incidence of swallowing and communication disorders following stroke is well documented. However, many of these studies have used retrospective chart reviews to make estimates of incidence and co-occurrence. The current study prospectively examined the incidence and co-occurrence of dysphagia, dysarthria, and aphasia following a 1st occurrence of ischemic stroke at an academic medical center hospital. Method One hundred patients who experienced their 1st ischemic stroke were recruited for participation in this study. All participants received a clinical swallowing evaluation to assess for dysphagia, administration of the Frenchay Dysarthria Assessment-Second Edition ( Enderby & Palmer, 2008 ) and Western Aphasia Battery-Revised ( Kertesz, 2006 ) to screen for the presence of dysarthria and aphasia, respectively. Results Incidence rates of dysphagia, dysarthria, and aphasia were 32%, 26%, and 16%, respectively. Forty-seven percent of participants had at least 1 of these disorders, 28% had 2 of these disorders, and 4% had all 3. Although the incidence rates in this study were smaller in magnitude than incidence rates in previous research, the pattern of results is broadly similar (i.e., dysphagia had the highest incidence rate, followed by dysarthria and, lastly, aphasia). Conclusions This prospective study yielded slightly lower incidence rates than have been previously obtained from retrospective chart reviews. The high incidence and co-occurrence of devastating swallowing and communication disorders post-ischemic stroke provides clear motivation for speech-language pathology involvement in the early phase of stroke rehabilitation.

Speech and Language Impairments After Childhood Arterial Ischemic Stroke: Does Hemisphere Matter?

BACKGROUND: The association between left hemisphere stroke and acute speech and language impairment is well documented in adults. However, little is known about this association in childhood arterial ischemic stroke. Here we examined potential predictors of acute speech (dysarthria and apraxia) and language impairments after childhood arterial ischemic stroke, including site of lesion. METHODS: Children with radiologically confirmed acute arterial ischemic stroke, admitted to a tertiary pediatric hospital from 2004 to 2012, were identified from an institutional registry. We examined the prevalence of dysarthria, apraxia, and language impairment within two weeks of the stroke. Associations with age at stroke event, lesion side (left, right, or bilateral), and arterial territory affected (anterior, posterior, or both) were assessed using logistic regression. RESULTS: Sixty-two children with mean age eight years (range three to 17 years) were identified. Strokes were located in the left (32%), right (44%), or both hemispheres (24%). Dysarthria (74%) and language impairment (50%) were frequent. Verbal dyspraxia was less common (11%). There was little evidence that variables of interest, including site of lesion, were significantly associated with increased odds of dysarthria or language impairment (all P > 0.49). CONCLUSIONS: Regardless of age, children are at high risk of communication disorders after stroke. Unlike adults, left hemisphere stroke was not associated with either speech or language impairment in our cohort, suggesting there may be bihemispheric contribution to language function. Future studies are needed to examine whether the predictors examined here determine long-term outcomes.

Estimates of the Prevalence of Speech and Motor Speech Disorders in Youth With 22q11.2 Deletion Syndrome.

Purpose Speech sound disorders and velopharyngeal dysfunction are frequent features of 22q11.2 deletion syndrome (22q). We report the first estimate of the prevalence of motor speech disorders (MSDs) in youth with 22q. Method Seventeen children and adolescents with 22q completed an assessment protocol that included a conversational speech sample. Data reduction included phonetic transcription, perceptual speech ratings, prosody-voice coding, and acoustic analyses. Data analyses included 3 motor speech measures and a cross-classification analytic. Prevalence estimates of speech and MSDs in youth with 22q were compared with estimates in speakers with other complex neurodevelopmental disorders: Down syndrome, fragile X syndrome, and galactosemia. Results Results indicated that 58.8% of the participants with 22q met criteria for speech delay, and 82.4% of the participants met criteria for MSDs, including 29.4% with speech motor delay, 29.4% with childhood dysarthria, 11.8% with childhood apraxia of speech, and 11.8% with concurrent childhood dysarthria and childhood apraxia of speech. MSDs were not significantly associated with velopharyngeal dysfunction. Conclusions In summary, 82.4% of the participants with 22q met criteria for 1 of 4 MSDs, predominantly speech motor delay and childhood dysarthria. Cross-validation of the present findings would support viewing MSDs as a core phenotypic feature of 22q.

Otoneurological findings prevalent in hereditary ataxias.

Objective To describe and compare the vestibular findings most evident among the hereditary ataxias, as well as correlate their clinical features with the nervous structures affected in this disease. Methods Seventy-five patients were evaluated and underwent a case history, otorhinolaryngological and vestibular assessments. Results Clinically, the patients commonly had symptoms of gait disturbances (67.1%), dizziness (47.3%), dysarthria (46%) and dysphagia (36.8%). In vestibular testing, alterations were predominantly evident in caloric testing (79%), testing for saccadic dysmetria (51%) and rotational chair testing (47%). The presence of alterations occurred in 87% of these patients. A majority of the alterations were from central vestibular dysfunction (69.3%). Conclusion This underscores the importance of the contribution of topodiagnostic labyrinthine evaluations for neurodegenerative diseases as, in most cases, the initial symptoms are otoneurological; and these evaluations should also be included in the selection of procedures to be performed in clinical and therapeutic monitoring.

Relationship between dysarthria and oral-oropharyngeal dysphagia: The current evidence.

There is a high prevalence of dysphagia among patients with neuromuscular diseases and cerebrovascular diseases, and its consequences can be profound. However, the correlation between dysarthria and oral-oropharyngeal dysphagia remains unclear. We conducted a literature review to define the clinical presentation of both dysarthria and dysphagia in patients with neuromuscular and cerebrovascular diseases. We performed a systematic PubMed search of the English-language literature since 1995. Objective and subjective outcomes instruments were identified for both dysarthria and dysphagia. Studies that included the incidence of concomitant presentations were included. Inclusion and exclusion criteria were applied according to the PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) guidelines. Of the 1,056 articles we reviewed, we selected 24 for analysis. We found that dysarthria and dysphagia were common among patients with neuromuscular and cerebrovascular diseases. Overall, there was a higher prevalence of dysarthria than dysphagia. Of those patients with dysphagia, some reports found that 76 to 90% of patients with neuromuscular disease also had dysarthria. Dysarthria is a strong clinical clue to the presence of dysphagia. Existing subjective questionnaires may not reveal the presence of oropharyngeal dysphagia; objective measures are obviously more revealing. Further studies to correlate the degree of dysarthria and the severity of oral-oropharyngeal dysphagia are warranted.

Otoneurological findings prevalent in hereditary ataxias / Alterações otoneurológicas prevalentes nas ataxias hereditárias

ABSTRACT Objective To describe and compare the vestibular findings most evident among the hereditary ataxias, as well as correlate their clinical features with the nervous structures affected in this disease. Methods Seventy-five patients were evaluated and underwent a case history, otorhinolaryngological and vestibular assessments. Results Clinically, the patients commonly had symptoms of gait disturbances (67.1%), dizziness (47.3%), dysarthria (46%) and dysphagia (36.8%). In vestibular testing, alterations were predominantly evident in caloric testing (79%), testing for saccadic dysmetria (51%) and rotational chair testing (47%). The presence of alterations occurred in 87% of these patients. A majority of the alterations were from central vestibular dysfunction (69.3%). Conclusion This underscores the importance of the contribution of topodiagnostic labyrinthine evaluations for neurodegenerative diseases as, in most cases, the initial symptoms are otoneurological; and these evaluations should also be included in the selection of procedures to be performed in clinical and therapeutic monitoring.

RESUMO Objetivo Descrever e comparar os achados vestibulares mais evidentes entre a ataxia hereditária, bem como correlacionar seus aspectos clínicos com o estudo das estruturas nervosas afetadas nesta doença. Métodos 75 pacientes foram avaliados e submetidos aos seguintes procedimentos: anamnese, avaliação otorrinolaringológica e vestibular. Resultados Clinicamente, os pacientes apresentaram sintomas de distúrbios da marcha (67,1%), tonturas (47,3%), disartria (46%) e disfagia (36,8%). No teste vestibular, as alterações foram predominantemente evidentes no teste calórico (79%), dismetria sacádicas (51%) e no teste rotatório (47%). A presença de alterações ocorreu em 87% dos pacientes. A maioria das alterações observadas foram da disfunção vestibular central (69,3%). Conclusão O estudo ressalta a importância da contribuição da avaliação labiríntica no topodiagnóstico para doenças neurodegenerativas, uma vez que, na maioria dos casos, os sintomas iniciais são otoneurológicos, e essas avaliações também devem ser incluídas na seleção de procedimentos a serem realizados no monitoramento clínico e terapêutico.

Speech, Voice, and Communication.

Communication changes are an important feature of Parkinson's and include both motor and nonmotor features. This chapter will cover briefly the motor features affecting speech production and voice function before focusing on the nonmotor aspects. A description of the difficulties experienced by people with Parkinson's when trying to communicate effectively is presented along with some of the assessment tools and therapists' treatment options. The idea of clinical heterogeneity of PD and subtyping patients with different communication problems is explored and suggestions are made on how this may influence clinicians' treatment methods and choices so as to provide personalized therapy programmes. The importance of encouraging and supporting people to maintain social networks, employment, and leisure activities is stated as the key to achieving sustainability. Finally looking into the future, the emergence of new technologies is seen as providing further possibilities to support therapists in the goal of helping people with Parkinson's to maintain good communication skills throughout the course of the disease.

La ataxia espinocerebelosa 36 (SCA36): «Ataxia da Costa da Morte» / Spinocerebellar ataxia 36 (SCA36): «Costa da Morte ataxia»

Introducción-objetivos: Describir la historia del descubrimiento de la SCA36 y revisar los conocimientos actuales sobre esta entidad que, por un efecto fundador, ha pasado a ser la SCA más prevalente en Galicia (España). Desarrollo: La SCA36 es una enfermedad heredodegenerativa autosómica dominante, de inicio tardío y lenta progresión, que cursa con ataxia cerebelosa, hipoacusia neurosensorial y discreta afectación de neuronas motoras (atrofia y fasciculaciones linguales y signos piramidales leves). Ha sido descrita inicialmente en Japón (ataxia del río Asida) y en Galicia (ataxia da Costa da Morte). Se produce por una mutación (expansión intrónica de hexanucleótido) en el gen NOP56, localizado en 20p13. En los estudios de resonancia magnética se observa inicialmente atrofia vermiana superior, que se extenderá al resto del cerebelo y finalmente a la porción bulboprotuberancial del tronco cerebral, sin lesiones de sustancia blanca. Las velocidades de conducción nerviosa periférica son normales y en los estudios de potenciales evocados somatosensoriales se detecta retraso de la conducción al estimular en miembros inferiores. En los pacientes con hipoacusia, suele encontrarse en la audiometría una caída > 40dB a partir de 2.400Hz; también se observa ausencia de ondas I y II en los estudios de potenciales evocados auditivos. Conclusiones: La ataxia da Costa da Morte-SCA36 es la SCA más prevalente en Galicia (España). Dada la alta tasa de emigración de nuestra comunidad autónoma, se espera que se diagnostiquen nuevos casos en diversas latitudes, sobre todo en América Latina. Ahora está disponible el diagnóstico genético para pacientes con clínica y portadores asintomáticos. Dado el alto número de pacientes en riesgo de sufrir la enfermedad, continuamos con las investigaciones para aclarar los mecanismos moleculares patogénicos y poder encontrar una terapéutica (AU)

Introduction-objective: To describe the history of the discovery of SCA36 and review knowledge of this entity, which is currently the most prevalent hereditary ataxia in Galicia (Spain) owing to a founder effect. Development: SCA36 is an autosomal dominant hereditary ataxia with late onset and slow progression. It presents with cerebellar ataxia, sensorineural hearing loss, and discrete motor neuron impairment (tongue atrophy with denervation, discrete pyramidal signs). SCA36 was first described in Japan (Asida River ataxia) and in Galicia (Costa da Morte ataxia). The condition is caused by a genetic mutation (intronic hexanucleotide repeat expansion) in the NOP56 gene on the short arm of chromosome 20 (20p13). Magnetic resonance image study initially shows cerebellar vermian atrophy that subsequently extends to the rest of the cerebellum and finally to the pontomedullary region of the brainstem without producing white matter lesions. Peripheral nerve conduction velocities are normal, and sensorimotor evoked potential studies show delayed conduction of stimuli to lower limbs. In patients with hearing loss, audiometric studies show a drop of > 40dB in frequencies exceeding 2,500Hz. Auditory evoked potential studies may also show lack of waves I and II. Conclusions: Costa da Morte ataxia or SCA36 is the most prevalent SCA in the Spanish region of Galicia. Given the region's history of high rates of emigration, new cases may be diagnosed in numerous countries, especially in Latin America. Genetic studies are now available to patients and asymptomatic carriers. Since many people are at risk for this disease, we will continue our investigations aimed at elucidating the underlying pathogenic molecular mechanisms and discovering effective treatment (AU)

A survey of speech-language therapy provision for people with post-stroke dysarthria in the UK.

BACKGROUND: A large number of people who experience a stroke are affected by dysarthria. This may be in isolation or in association with aphasia and/or dysphagia. Despite evidence highlighting the psychological and social impact of having post-stroke dysarthria and a number of clinical guidelines that make recommendations for appropriate management, little is known currently about UK service delivery issues relating to speech and language therapy (SLT) assessment and treatment for this group. Such evidence is necessary in order to plan, develop and research services for people with post-stroke dysarthria. AIMS: To gain an overview of SLT practices in the management of people with dysarthria after stroke in the UK. METHODS & PROCEDURES: SLTs in the UK were asked to complete an online survey addressing referral patterns, caseload profiles, and their assessment and intervention methods for post-stroke dysarthria. In the absence of a national register of clinicians working with people with acquired dysarthria, a snowballing method was used to facilitate participant recruitment. Results were analysed using descriptive statistics. OUTCOMES & RESULTS: A total of 146 SLTs responded. The majority were employed by the National Health Service (NHS). Most patients were referred within 1 week post-stroke. Almost half the respondents did not regularly use formal assessments and the use of instrumentation was rare, including the use of video recording. The focus of therapy for mild, moderate and severe dysarthria did not differ significantly for clinicians. A little under half the respondents endorsed non-verbal oral exercises in rehabilitation. The survey demonstrated some appreciation of the centrality of regular intensive practice to effect change, but this was in a minority. CONCLUSIONS & IMPLICATIONS: Through this research it became clear that basic information regarding post-stroke dysarthria incidence, prevalence and core demographics is currently unavailable. More embedded NHS SLT reporting systems would make a significant contribution to this area. A more in-depth examination is required of the natural history of dysarthria over the months and years following stroke, of SLT practices in relation to post-stroke dysarthria, with investigations to understand more fully the choices SLTs make and how this relates to available evidence to support their clinical decision-making.

The evaluation of bulbar dysfunction in amyotrophic lateral sclerosis: survey of clinical practice patterns in the United States.

OBJECTIVE: Speech and swallowing impairments are highly prevalent in individuals with amyotrophic lateral sclerosis (ALS) and contribute to reduced quality of life, malnutrition, aspiration, pneumonia and death. Established practice parameters for bulbar dysfunction in ALS do not currently exist. The aim of this study was to identify current practice patterns for the evaluation of speech and swallowing function within participating Northeast ALS clinics in the United States. METHODS AND RESULTS: A 15-item survey was emailed to all registered NEALS centres. Thirty-eight sites completed the survey. The majority (92%) offered Speech-Language Pathology, augmentative and alternative communication (71%), and dietician (92%) health care services. The ALS Functional Rating Scale-Revised and body weight represented the only parameters routinely collected in greater then 90% of responding sites. Referral for modified barium swallow study was routinely utilised in only 27% of sites and the use of percutaneous gastrostomy tubes in ALS patient care was found to vary considerably. CONCLUSIONS: This survey reveals significant variability and inconsistency in the management of bulbar dysfunction in ALS across NEALS sites. We conclude that a great need exists for the development of bulbar practice guidelines in ALS clinical care to accurately detect and monitor bulbar dysfunction.

The Importance of Labyrinthine Examination in the Prognosis and Therapy for Balance in Spinocerebellar Ataxia.

INTRODUCTION: Spinocerebellar ataxias (SCAs) are a heterogeneous group of neurodegenerative diseases that are characterized by the presence of progressive cerebellar ataxia. OBJECTIVE: Identify vestibular disorders and demonstrate the importance of labyrinthine examination in the prognosis and therapy for balance in patients with SCAs. MATERIALS AND METHODS: The study had a retrospective cross-sectional design and evaluated 57 patients, mean age of 41.6 years and standard deviation of 13 years. Patients underwent the following procedures: anamnesis, ENT examination and vestibular exam using electronystagmography (ENG). RESULTS: The most frequent complaints were gait imbalance (71.9%), dysarthria (49.1%), dizziness (43.8%) and dysphagia (36.8%). 84.2% of the tests showed alterations. The most common tests with alterations were the caloric test (78.9%), slow saccades (61.4%) and the rotating chair test (49.1%). CONCLUSION: The clinical history of the patient and oculomotor alterations in the labyrinthine examination provide sufficient information for the proper use of virtual rehabilitation protocols in the treatment of imbalance, making it the most effective therapy method. It was evident that changes in ENG are related to the severity of the SCA or the clinical stage of the disease. The labyrinthine examination proved to be an important concomitant tool to clinical and genetic study.