Bulbar ALS Research Articles

Utilizing neurodegenerative markers for the diagnostic evaluation of amyotrophic lateral sclerosis

BackgroundAmyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterized by progressive deterioration of upper and lower motor neurons. A definitive diagnostic test or biomarker for ALS is currently unavailable, leading to a diagnostic delay following the onset of initial symptoms. Our study focused on cerebrospinal fluid (CSF) concentrations of clusterin, tau protein, phosphorylated tau protein, and beta-amyloid1–42 in ALS patients and a control group.MethodsOur study involved 54 ALS patients and 58 control subjects. Among the ALS patients, 14 presented with bulbar-onset ALS, and 40 with limb-onset ALS. We quantified biomarker levels using enzyme-linked immunosorbent assay (ELISA) and compared the results using the Mann–Whitney U-test.ResultsSignificant elevations in neurodegenerative markers, including tau protein (p < 0.0001), phosphorylated tau protein (p < 0.0001), and clusterin (p = 0.038), were observed in ALS patients compared to controls. Elevated levels of tau protein and phosphorylated tau protein were also noted in both bulbar and limb-onset ALS patients. However, no significant difference was observed for beta-amyloid1–42. ROC analysis identified tau protein (AUC = 0.767) and p-tau protein (AUC = 0.719) as statistically significant predictors for ALS.ConclusionOur study demonstrates that neurodegenerative marker levels indicate an ongoing neurodegenerative process in ALS. Nonetheless, the progression of ALS cannot be predicted solely based on these markers. The discovery of a specific biomarker could potentially complement existing diagnostic criteria for ALS.

Relationship between phase angle preservation and delay of NIMV use after initiation of early enteral nutrition due to gastrostomy in patients with bulbar ALS

Relationship between phase angle preservation and delay of NIMV use after initiation of early enteral nutrition due to gastrostomy in patients with bulbar ALS

Clinical and demographical characteristics in a cohort of MND patients treated with riluzole. Differences between tablets and oral suspension

Objective: To describe the clinical and demographic characteristics of patients with MND treated with riluzole by comparing two dosage forms (oral suspension and tablets), as well as the impact on survival in patients with and without dysphagia according to the form of dosage. Methods: Retrospective and prospective cohort of patients diagnosed with MND at the multidisciplinary functional unit of Motor Neuron Disease in our center in the period between 1 of January 2011 and 31 of December 2020 (n = 742). A descriptive analysis (univariate and bivariate) was carried out and survival curves were estimated. Results: During the follow-up period, 402 males (54.18%) and 340 females (45.82%) were diagnosed with MND. Of these patients, 632 (97.23%) were being treated with 100mg riluzole: 282 (54.55%) patients took this in tablet form and 235 (45.45%) oral suspension. Riluzole in tablet form is taken more frequently by men than women, in younger age ranges, and mostly without dysphagia (78.31%). Also, it is the predominant dosage form for classic spinal ALS and respiratory phenotypes. Dosages via oral suspension are taken by patients in the older age ranges (over 64.8 years), mostly with dysphagia (53.67%) and more frequently with bulbar phenotypes such as classic bulbar ALS and PBP. Because of this, patients using oral suspension (most of them with dysphagia) had a poorer survival rate (at 90% CI) than patients using tablets (most of them without dysphagia). Conclusions: The most appropriate dosage form should be given according to the patient’s needs at each stage of the disease and, furthermore, oral suspension could improve adherence to treatment because it avoids having to change from one form (tablet) to the other (suspension) when swallowing disorders appear.

Brain metabolic differences between pure bulbar and pure spinal ALS: a 2-[18F]FDG-PET study

BackgroundMRI studies reported that ALS patients with bulbar and spinal onset showed focal cortical changes in corresponding regions of the motor homunculus. We evaluated the capability of brain 2-[18F]FDG-PET to disclose the metabolic features characterizing patients with pure bulbar or spinal motor impairment.MethodsWe classified as pure bulbar (PB) patients with bulbar onset and a normal score in the spinal items of the ALSFRS-R, and as pure spinal (PS) patients with spinal onset and a normal score in the bulbar items at the time of PET. Forty healthy controls (HC) were enrolled. We compared PB and PS, and each patient group with HC. Metabolic clusters showing a statistically significant difference between PB and PS were tested to evaluate their accuracy in discriminating the two groups. We performed a leave-one-out cross-validation (LOOCV) over the entire dataset. Four classifiers were considered: support vector machines (SVM), K-nearest neighbours, linear classifier, and decision tree. Then, we used a separate test set, including 10% of patients, with the remaining 90% composing the training set.ResultsWe included 63 PB, 271 PS, and 40 HC. PB showed a relative hypometabolism compared to PS in bilateral precentral gyrus in the regions of the motor cortex involved in the control of bulbar function. SVM showed the best performance, resulting in the lowest error rate in both LOOCV (4.19%) and test set (9.09 ± 2.02%).ConclusionsOur data support the concept of the focality of ALS onset and the use of 2-[18F]FDG-PET as a biomarker for precision medicine-oriented clinical trials.

Impact of Limb Phenotype on Tongue Denervation Atrophy, Dysphagia Penetrance, and Survival Time in a Mouse Model of ALS.

Current treatments for dysphagia in ALS do not target the underlying tongue weakness and denervation atrophy that is prevalent in spinal and bulbar ALS cases. To address this clinical gap, we studied the low copy number SOD1-G93A (LCN-SOD1) mouse model of ALS to quantify the impact of limb phenotype on tongue denervation atrophy, dysphagia penetrance, and survival time in preparation for future treatment-based studies. Two male LCN-SOD1 breeders and 125 offspring were followed for limb phenotype inheritance, of which 52 (30 LCN-SOD1 and 22 wild-type/WT, both sexes) underwent characterization of dysphagia penetrance (via videofluoroscopic swallow study; VFSS) and survival time at disease end-stage (15-20% body weight loss). From these, 16 mice (8/genotype) underwent postmortem histological analysis of the genioglossus for evidence of denervation atrophy. Results revealed that both breeders displayed a mixed (hindlimb and forelimb) ALS phenotype and sired equal proportions of hindlimb vs. mixed phenotype offspring. Dysphagia penetrance was complete for mixed (100%) versus incomplete for hindlimb (64%) phenotype mice; yet survival times were similar. Regardless of limb phenotype, LCN-SOD1 mice had significantly smaller genioglossus myofibers and more centralized myonuclei compared to WT mice (p < 0.05). These biomarkers of denervation atrophy were significantly correlated with VFSS metrics (lick and swallow rates, p < 0.05) but not survival time. In conclusion, both LCN-SOD1 phenotypes had significant tongue denervation atrophy, even hindlimb phenotype mice without dysphagia. This finding recapitulates human ALS, providing robust rationale for using this preclinical model to explore targeted treatments for tongue denervation atrophy and ensuing dysphagia.

CSF Heavy Neurofilament May Discriminate and Predict Motor Neuron Diseases with Upper Motor Neuron Involvement.

Objective: To assess whether phosphorylated neurofilament heavy chain (pNfH) can discriminate different upper motor neuron (UMN) syndromes, namely, ALS, UMN-predominant ALS, primary lateral sclerosis (PLS) and hereditary spastic paraparesis (hSP) and to test the prognostic value of pNfH in UMN diseases. Methods: CSF and serum pNfH were measured in 143 patients presenting with signs of UMN and later diagnosed with classic/bulbar ALS, UMNp-ALS, hSP, and PLS. Between-group comparisons were drawn by ANOVA and receiver operating characteristic (ROC) analysis was performed. The prognostic value of pNfH was tested by the Cox regression model. Results: ALS and UMNp-ALS patients had higher CSF pNfH compared to PLS and hSP (p < 0.001). ROC analysis showed that CSF pNfH could differentiate ALS, UMNp-ALS included, from PLS and hSP (AUC = 0.75 and 0.95, respectively), while serum did not perform as well. In multivariable survival analysis among the totality of UMN patients and classic/bulbar ALS, CSF pNfH independently predicted survival. Among UMNp-ALS patients, only the progression rate (HR4.71, p = 0.01) and presence of multifocal fasciculations (HR 15.69, p = 0.02) were independent prognostic factors. Conclusions: CSF pNfH is significantly higher in classic and UMNp-ALS compared to UMN diseases with a better prognosis such as PLS and hSP. Its prognostic role is confirmed in classic and bulbar ALS, but not among UMNp, where clinical signs remained the only independent prognostic factors.

Motor neuron disease beginning with frontotemporal dementia: clinical features and progression

Objective: To study disease characteristics, progression and outcome in a group of motor neuron disease (MND) patients beginning with frontotemporal dementia (FTD) by comparing them with patients with the typical motor-onset. Methods: 849 patients recruited from tertiary centers were studied according to FTD-onset and motor-onset. We studied clinical data, functional decline and survival. Results: Twenty six patients (3.1%) had FTD-onset of whom seven (26.9%) had coincident motor dysfunction. In those with isolated FTD-onset, motor symptoms developed after a median of 12 months (IQR: 4–18). FTD-onset patients were older at presentation; the bulbar-region was more frequently first affected than in the motor-onset group; there was a predominant upper motor neuron (UMN) phenotype; fasciculations were less common than in motor onset disease but facial and upper limb apraxia was more frequent; as well as ALS and FTD familial history. No differences were observed for gender, frequency of C9orf72 hexanucleotide repeat expansion, family history of Alzheimer’s and Parkinson’s diseases, median delay from motor symptoms to diagnosis, median ALSFRS-R rate of change, handedness, emotional lability, depression, weight loss, resting tremor, bradykinesia, sensory changes or neuropathy. Clinical and demographic features were similar between FTD-onset patients developing bulbar MND and bulbar-onset ALS patients. Once bulbar symptoms manifested functional progression and survival were similar to those of bulbar-onset ALS patients. Conclusions: MND patients with FTD-onset have a distinctive phenotype characterized by predominant UMN presentation and rapid progression to bulbar involvement. The main factor impacting functional decline and survival is the onset of bulbar dysfunction.

Evaluation of White Matter Tracts Fractional Anisotropy Using Tract-Based Spatial Statistics and Its correlation with Amyotrophic Lateral Sclerosis Functional Rating Scale Score in Patients with Motor Neuron Disease.

Background Motor neuron diseases cause progressive degeneration of upper and lower motor neurons. No Indian studies are available on diffusion tensor imaging (DTI) findings in these patients. Aims This study was done to identify white matter tracts that have reduced fractional anisotropy (FA) in motor neuron disease (MND) patients using tract-based spatial statistics and to correlate FA values with Amyotrophic Lateral Sclerosis Functional Rating Scale (ALSFRS-R) score. Settings and Design A case–control study in a tertiary care hospital. Materials and Methods We did DTI sequence (20 gradient directions, b -value 1,000) in 15 MND patients (10 men and 5 women; mean age: 46.5 ± 16.5 years; 11 amyotrophic lateral sclerosis [ALS], 2 monomelic amyotrophy, 1 progressive muscular atrophy, and 1 bulbar ALS) and 15 age- and sex-matched controls. The data set from each subject was postprocessed using FSL downloaded from the FMRIB Software Library, Oxford, United Kingdom (http://www.fmrib.ox.ac.uk/fsl). Statistical Analysis The statistical permutation tool “randomize” with 5,000 permutations was used to identify voxels that were different between the patient data set and the control data set. Mean FA values of these voxels were obtained separately for each tract as per “JHU white-matter tractography atlas.” SPSS was used to look to correlate tract-wise mean FA value with ALSFRS-R score. Results We found clusters of reduced FA values in multiple tracts in the brain of patients with MND. Receiver operating characteristic curves plotted for individual tracts, showed that bilateral corticospinal tract, bilateral anterior thalamic radiation, bilateral uncinate fasciculus, and right superior longitudinal fasciculus were the best discriminators (area under the curve > 0.8, p < 0.01). FA values did not correlate with ALFRS-R severity score. Conclusion In MND patients, not only the motor tracts, but several nonmotor association tracts are additionally affected, reflecting nonmotor pathological processes in ALS.

Speech network regional involvement in bulbar ALS: a multimodal structural MRI study

Objective: To examine gray (GM) and white matter (WM) structural changes in regions of the speech network (SpN) in ALS patients with varying degree of bulbar disease. Methods: T1 and DTI images were obtained for 19 ALS participants and 13 neurologically-intact controls. Surface-based, volumetric, and DTI metrics were obtained for 6 regions-of-interest (ROIs) including the primary motor cortex (PMC), pars triangularis (parsT), pars opercularis (ParsO), posterior superior temporal gyrus (pSTG), and transverse temporal (TT). Disease-effects and brain-behavioral correlates between neuroanatomy and clinical measures of bulbar, limb, and overall disability were examined using linear models. Results: Structural changes were observed in the right oral and limb PMC and left ParsT, TT, and pSTG in ALS. Bulbar motor dysfunction was associated with WM abnormalities in the right oral PMC and left pSTG, and GM changes in bilateral TT. In contrast, symptom progression rate predicted GM and WM changes in bilateral pars opercularis (part of Broca’s area). Grip strength and disease duration models were non-significant. Conclusions: The findings suggested that regions of the left-dominant SpN may be implicated in ALS and degeneration of these areas are related to bulbar disease severity. Involvement of regions that overlap across multiple connectomes such as Broca’s area, however, may be dependent on the rate of disease progression. The work contributes to our understanding of bulbar ALS subtype, which is crucial for predicting disease progression, delivering targeted clinical care, and appropriate recruitment into clinical trials.

The path to specialist multidisciplinary care in amyotrophic lateral sclerosis: A population- based study of consultations, interventions and costs.

BackgroundAmyotrophic Lateral Sclerosis (ALS) is a devastating neurological condition that requires coordinated, multidisciplinary clinical management. ALS is prone to misdiagnosis as its signs and symptoms may be non-specific, which may prolong patients’ journey to multidisciplinary ALS care.MethodsUsing chart review and national register data, we have detailed the journey of a national cohort of ALS patients (n = 155) from the time of first symptom to presentation at a multidisciplinary clinic (MDC). Key milestones were analysed, including frequency of consultations, clinical interventions, and associated economic cost.ResultsA majority of patients was male (60%), 65 years of age and over (54%), and had spinal onset ALS (72%). Time from onset of first symptoms to ALS diagnosis was a mean of 15.1 months (median, 11). There was a mean interval of 17.4 months (median 12.5) from first symptoms to arrival at the MDC, and a mean of 4.09 (median, 4) consultations with health care professionals. Electromyography and nerve conduction studies were among the most common interventions. Direct referral by a general practitioner (GP) to a neurologist was associated with reduced cost, but not reduced diagnostic delay. Bulbar ALS was associated with shorter time from symptom onset to diagnosis. Neurologist consultation in the first three consultations was associated with lower costs prior to the ALS clinic attendance but not a shorter time from first symptom to final diagnosis. Mean cost prior to attending the MDC was €3,486 per patient.ConclusionsExpedited referral to the multidisciplinary ALS clinic would have reduced costs by an estimated €2,072 per patient. Development of a standardised pathway with early referral to neurology of patients with suspected symptoms of ALS could limit unnecessary interventions and reduce cost of care.

V14. Complementary use of central and peripheral non-invasive imaging to distinguish between subtypes in amyotrophic lateral sclerosis

Background Diffusion tensor imaging (DTI) has successfully been used to investigate ALS-related changes in the central nervous system (CNS). Many studies reported, for example, decreased white matter integrity in the cortico-spinal tract (CST). Consequently, DTI has been proposed as a potential biomarker to support clinical diagnosis. While recent results look promising in principle, the reliability of DTI-based diagnosis seems currently insufficient for practical use. To enhance discriminative performance, one would ideally integrate information from complementary diagnostic modalities during classifier construction. Objective In a recent study, we observed ALS-related thinning of different peripheral nerves based on cross-sectional area (CSA) measurements using high-resolution ultrasound ( Schreiber et al., 2014 ). Here, we combined DTI-based measures of the CST with CSA of the upper limb peripheral nerves to improve imaging-based discrimination between different ALS subtypes and healthy controls. Methods 51 patients with ALS (14 classic, 10 upper motor neuron dominant (UMND), 14 lower motor neuron dominant (LMND), 8 bulbar, and 5 primary lateral sclerosis (PLS)) and 18 healthy controls underwent diffusion-weighted MRI at 3T and peripheral nerve ultrasound in order to determine the fractional anisotropy (FA) in the white matter underneath the motor cortex, posterior limb of the internal capsule, cerebral peduncle, pons and medulla oblongata as well as the CSA of the N. medianus and the N. ulnaris. Statistical comparisons were conducted using analysis of variance (ANOVA). Classifier construction was carried using linear discriminants after dimensionality reduction based on principal component analysis. Separate classifiers were constructed using FA, CSA, and both FA and CSA data, respectively. Results Compared to controls, ALS patients exhibited significant, distally pronounced reductions of the ulnar nerve CSA across all subtypes with the exception of PLS. In addition, DTI data revealed significant differences between ALS subtypes with pronounced impairment of the CST in UMND and PLS and modest impairment in LMND patients, while bulbar ALS is intermediately located within this spectrum. Classification performance was considerably higher exploiting both central and peripheral data compared to using either modality alone. Most notably, UMND and PLS patients could be accurately separated. Conclusion Combining central and peripheral data acquired through DTI and ultrasound, respectively, leads to improved discrimination not only between ALS and healthy controls, but also between ALS subtypes. This speaks to the complementary role of both methods regarding their contribution to classification performance. The potential of combining both imaging methods is particularly evident in the reliable separation of UMND and PLS patients, since early differentiation of these subtypes remains a difficult problem in clinical practice.

Apport de l’électromyogramme dans le diagnostic précoce des SLA à début bulbaire : comparaison des critères d’El Escorial, d’El Escorial modifiés et d’Awaji

IntroductionDiagnosis of bulbar ALS is difficult at the early stage of the disease. According to guidelines, early diagnosis is better in view to optimize the management of affected patients. To improve the sensitivity without losing specificity of the prior criteria, the Board of Awaji has proposed modified electrodiagnostic criteria for ALS. The aim of this study was to evaluate the contribution of needle electromyography in early diagnosis of bulbar ALS by comparing the El Escorial criteria (EEC), Revised El Escorial Criteria (R-EEC) and Awaji algorithm (AA). MethodsIn a retrospective study, we analysed clinical and electrophysiological data of 46 patients followed in our center for a bulbar-onset ALS seen for the first time between January 2007 and February 2011. All these patients had bulbar-onset ALS probable or certain at the last follow-up. All data were collected during the first clinical examination and the first electrophysiological study. ResultsMean age of the population was 69 (37–90years, sex ratio: 0.91). Using the EEC, 9 patients were diagnosed as definite or probable ALS at the first consultation. Applying the R-EEC, 13 patients were diagnosed as definite or probable ALS and using the AA, 23 patients were diagnosed as definite or probable ALS. The sensitivity of the EEC was 19.5%, the R-EEC was 28.2% and for AA was 49.98%. ConclusionAA are more sensitive in early diagnosis of bulbar ALS compared to R-EEC with the contribution of ENMG and when fasciculations are considered as evidence of spontaneous activity. Such an approach can contribute to accelerate an optimal management of the disease. AA are a breakthrough in the diagnosis of ALS especially in the bulbar-onset forms.

Isolated bulbar phenotype of amyotrophic lateral sclerosis

Typical bulbar-onset ALS generally portends a poor prognosis. To determine whether a relatively isolated bulbar phenotype (IBP) may have a better prognosis, patients with bulbar onset presentations were prospectively assessed, with IBP defined by an absence of limb progression over an initial six-month period. Clinical features and neurophysiological characteristics were compared. From a cohort of 300 consecutive referrals, 32 patients with bulbar onset disease (21 females, 11 males) were identified and compared to 23 age-matched control subjects. In total, patients were followed for 54 months. Twelve patients were identified with IBP (nine female, three male) and 20 had more typical bulbar ALS (12 female, eight male). Clinically, IBP was characterized by greater female predominance and upper motor neuron bulbar involvement. Compound motor action potential amplitudes were preserved in IBP compared to bulbar ALS (IBP, 7.1 mV; bulbar ALS, 4.2 mV, p <0.05), as was the neurophysiological index (IBP, 1.2; bulbar ALS 0.5, p <0.05). Furthermore, short interval intracortical inhibition was normal in IBP and reduced in typical bulbar ALS. In conclusion, patients with IBP were typically female with prominent upper motor neuron bulbar features and had normal cortical excitability. Biomarkers of cortical excitability may prove useful for further classifying ALS.

Efecto del soporte nutricional sobre la supervivencia en pacientes con esclerosis lateral amiotrófica

Introduction: Malnutrition affects morbidity and mor- tality of patients with ALS. The nutrition unit should evaluate these patients early and regularly providing the necessary steps in the evolution of the disease. Methods: A retrospective cohort study in which we analyzed 46 patients diagnosed with ALS, 21 of them received nutritional therapy. We studied age, mode of onset, date of entry into a nutritional protocol, placement of PEG and survival. We performed a test of Breslow comparing patients who were at nutritional protocol with those not receiving nutritional support, and those who received early nutritional therapy with those with delayed nutrition. Results: There was an increase in median survival for patients in nutritional therapy in bulbar ALS (452 vs 55 days) and in spinal ALS (1,798 vs 357 days) (p = 0.002). The median delay in the initiation of nutritional therapy in spinal ALS was 557 days while in bulbar ALS was 230 days. The survival in the spinal ALS of those who entered into nutritional protocol before the median survival was 325 days to 181 days (p = 0.09) while in bulbar ALS those who entered before had a median survival of 435 days to 177 days (p = 0.38). Conclusions: The entry of patients with ALS in a nutri- tional protocol increases survival. There is an advantage in the evolution of patients with early nutritional treat- ment.

Effect of nutritional support on survival in patients with amyotrophic lateral sclerosis

Malnutrition affects morbidity and mortality of patients with ALS. The nutrition unit should evaluate these patients early and regularly providing the necessary steps in the evolution of the disease. A retrospective cohort study in which we analyzed 46 patients diagnosed with ALS, 21 of them received nutritional therapy. We studied age, mode of onset, date of entry into a nutritional protocol, placement of PEG and survival. We performed a test of Breslow comparing patients who were at nutritional protocol with those not receiving nutritional support, and those who received early nutritional therapy with those with delayed nutrition. There was an increase in median survival for patients in nutritional therapy in bulbar ALS (452 vs 55 days) and in spinal ALS (1,798 vs 357 days) (p = 0.002). The median delay in the initiation of nutritional therapy in spinal ALS was 557 days while in bulbar ALS was 230 days. The survival in the spinal ALS of those who entered into nutritional protocol before the median survival was 325 days to 181 days (p = 0.09) while in bulbar ALS those who entered before had a median survival of 435 days to 177 days (p = 0.38). The entry of patients with ALS in a nutritional protocol increases survival. There is an advantage in the evolution of patients with early nutritional treatment.

An exploratory case-control study on spinal and bulbar forms of amyotrophic lateral sclerosis in the province of Rome

Several environmental and life-style factors reported as possibly associated with ALS have been analysed in the present study, focusing on the two clinical onsets of ALS. A case-control study (77 cases and 185 controls) has been performed in the province of Rome in the period 2005-2006. Increased risks were observed in bulbar cases for former smokers (OR: 4.55, 90% CI 1.72-12.08) and more than 24 pack-years, compared with spinal cases for employment in the construction sector and professional exposure to building materials (OR: 5.27, 90% CI 1.15-24.12) and metals (OR: 2.94, 90% CI 1.20-7.21). Overall and bulbar cases showed an increased risk for consumption of cold cuts and a decreased risk for vegetables intake. Regarding head injuries, differences were observed if the last injury occurred in the age range of 30-40 years, among all (OR: 14.2, 90% CI 1.04-194.42) and bulbar (OR: 17.4, 90% CI 1.70-178.5) cases, and less than 30 years among spinal cases (OR: 7.13, 90% CI 1.34-37.94). Moreover, a risk for a time period of 11-30 years since the last head injury suffered was found in bulbar cases (OR: 3.51, 90% CI 1.03-11.95). Some of the hypothesized risk factors for ALS have been found positively associated in this study, with different patterns between bulbar and spinal ALS.

Parotid Gland Injections of Botulinum Toxin A Are Effective in Treating Sialorrhea in Amyotrophic Lateral Sclerosis

: The objective of this study was to determine the safety and efficacy of botulinum toxin A in ameliorating refractory sialorrhea and improving quality of life in patients with amyotrophic lateral sclerosis. : Six patients with bulbar ALS received bilateral parotid gland injections of botulinum toxin A. : No adverse effects occurred. Tissue use decreased in 5 of 7 patients at a dose of 10 units and in 3 of 4 patients at a dose of 20 units. Self-reported quality of life did not change in most. : Parotid gland injections of botulinum toxin appear safe and may be helpful in some patients with ALS for the treatment of sialorrhea.

Assessment of tongue weakness and fatigue

Assessment of nonspeech tongue function is common in speech-language pathology. This paper reviews techniques used to determine tongue strength and endurance, and describes a constant-effort task. These techniques are intended to reveal and quantify the presence of weakness or fatigue of the tongue. The consequences of performing these tasks with and without a bite block, used to fix jaw position, are considered. Whether nonspeech tongue impairment is associated with speech dysfunction in Parkinson’s disease is another topic of interest. Past studies indicated reduced tongue strength and endurance in Parkinson’s disease, but these measures did not correlate with speech measures. It was hypothesized that weakness and fatigue need to be impaired to a “critical” level before speech is perceptibly affected. To examine whether experimentally induced tongue fatigue affects speech, normal speakers performed prolonged strenuous tongue exercise. Speech deteriorated following these exercises. A new investigation examines whether 1 hour of speech-like tongue exercise (rapid syllable repetitions) affects dysarthric speech. Preliminary data from 6 participants with Parkinson’s disease, 1 person with bulbar ALS, and 6 neurologically normal control subjects indicate that sentences sound more precise but less natural after the exercises. Surprisingly, results did not differ significantly between the groups. Continued collection of data and refinement of tasks will contribute to our understanding of the potential relationships between weakness, fatigue, and speech.

A Case of Invasive Thymoma

A 52 year-old man with a past medical history of an isolated seizure presented to the Veterans Affairs hospital complaining of weakness which was most prominent in the face and upper extremities. About 6 months prior to this admission he developed intermittent episodes of weakness when chewing and swallowing. He would often have to use his hands to close his jaw when eating or talking. He noticed that his voice had developed a nasal quality but he did not have slurred speech. He denied drooling, ptosis, cramping or muscle twitches. He was seen 6 months ago at another VA hospital where a neurologic workup was done. This included a cranial nerve EMG positive for denervation of cranial nerves, R arm and T- and L-spine. MRI and CT scans could not be done because the patient aspirated when supine. He was given a presumptive diagnosis of motor neuron disease, specifically bulbar ALS. At that time he was told he would need a PEG-feeding tube placed due to significant weight loss. The patient refused the feeding tube and did not follow up until 6 months later when the symptoms had worsened.

Value of spirometric investigations in amyotrophic lateral sclerosis.

The respiratory function has been studied in 37 patients with ALS. 15 of them (5 till death) were followed with serial spirometric tests. The data, as a whole, show a diminution of vital capacity, a diminution of forced expiratory volume per second, an increase of the residual volume and of the Motley index; blood gas analysis showed no significant alterations apart from slight hypoxemia. Patients with bulbar ALS presented marked abnormalities of the spirometric and blood gas analysis parameters. In the cases followed with serial spirometric tests VC, Motley index and FEV1 gradually deteriorated as the disease advanced. In the deceased patients a sudden and serious aggravation of these values occurred. This was especially true for FEV1 and Motley index during the 3 months preceding death. The variations in residual volume were less indicative. Finally, the influence of smoking and of pulmonary and bronchial pathology, present or past, was not significant.