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Neuromuscular Disorders : NMD Jun 2022Myoglobinopathy is a rare autosomal dominant myopathy that manifests in adulthood with proximal and axial weakness and variable respiratory and cardiac failure. Muscle...
Myoglobinopathy is a rare autosomal dominant myopathy that manifests in adulthood with proximal and axial weakness and variable respiratory and cardiac failure. Muscle pathology features associated with myoglobinopathy include characteristic sarcoplasmic bodies in skeletal and cardiac muscles. Here we present the first case of myoglobinopathy in an Asian individual. Although myoglobinopathy patients were reported not to have facial muscle weakness, our patient had orbicularis oculi muscle weakness, tongue weakness and atrophy, poor movement of the soft palate, and dysarthria. This is also the first reported case of tube feeding in a patient with myoglobinopathy. The patient started NPPV 18 years after onset, indicating that an older age of onset may have resulted in slow disease progression. Muscle selectivity, characteristic muscle pathology, and progressive cardiopulmonary dysfunction and dysphagia are hallmarks of this disease.
Topics: Adult; Dysarthria; Facial Muscles; Humans; Muscle Weakness; Muscle, Skeletal; Muscular Diseases
PubMed: 35527200
DOI: 10.1016/j.nmd.2022.02.010 -
American Journal of Speech-language... Jun 2021Purpose This study describes motor speech disorders and associated communication limitations in six variants of progressive supranuclear palsy (PSP). Method The...
Purpose This study describes motor speech disorders and associated communication limitations in six variants of progressive supranuclear palsy (PSP). Method The presence, nature, and severity of dysarthria and apraxia of speech (AOS) were documented, along with scores on the Apraxia of Speech Rating Scale-Version 3 (ASRS-3) for 77 (40 male and 37 female) patients with PSP. Clinician-estimated and patient-estimated communication limitations were rated using the Motor Speech Disorders Severity Rating (MSDSR) Scale and the Communicative Effectiveness Survey (CES), respectively. Descriptive statistics were calculated for each of these dependent variables. One-tailed tests were conducted to test mean differences in ASRS-3 and CES between participants with and without AOS and between participants with and without dysarthria. Spearman rank correlations were calculated between ASRS-3 scores and clinical judgments of AOS and dysarthria severity and between MSDSR and CES ratings. Results Nine participants (12%) had normal speech. Eighty-seven percent exhibited dysarthria; hypokinetic and mixed hypokinetic-spastic dysarthria were observed most frequently. AOS was observed in 19.5% of participants across all variants, but in only 10% exclusive of the PSP speech and language variant. Nearly half presented with AOS in which neither phonetic nor prosodic features clearly predominated. The mean ASRS-3 score for participants with AOS was significantly higher than for those without and correlated strongly with clinician judgment of AOS severity. Mean ASRS-3 was higher for participants with dysarthria than for those without but correlated weakly with dysarthria severity. Mean MSDSR and CES ratings were lower in participants with AOS compared to those without and moderately correlated with each other. Conclusions Motor speech disorders that negatively impact communicative effectiveness are common in PSP and occur in many variants. This is the first description of motor speech disorders across PSP variants, setting the stage for future research characterizing neuroanatomical correlates, progression of motor speech disorders, and benefits of targeted interventions. Supplemental Material https://doi.org/10.23641/asha.14111837.
Topics: Apraxias; Dysarthria; Female; Humans; Language; Male; Speech; Speech Disorders; Supranuclear Palsy, Progressive
PubMed: 33719524
DOI: 10.1044/2020_AJSLP-20-00126 -
Disability and Rehabilitation Dec 2023To cross-culturally adapt and validate the Radboud Dysarthria Assessment (RDA) and the speech component of the Radboud Oral Motor inventory for Parkinson's disease...
PURPOSE
To cross-culturally adapt and validate the Radboud Dysarthria Assessment (RDA) and the speech component of the Radboud Oral Motor inventory for Parkinson's disease (ROMP-speech) into the Arabic language among Lebanese subjects with dysarthria.
MATERIALS AND METHODS
This study included 50 participants with dysarthria. The Arabic versions of the RDA (A-RDA) and the ROMP-speech (A-ROMP-speech) were administered in addition to the Arabic Speech Intelligibility test, the Lebanese Voice Handicap Index-10 (VHI-10lb) and semantic verbal fluency tasks. The maximum performance tasks were analyzed using the Praat software. The A-RDA qualitative recording form and the A-ROMP-speech were assessed for construct validity and internal consistency. The convergent validity of the maximum performance tasks, the severity scale, and the A-ROMP-speech were evaluated.
RESULTS
Exploratory factor analysis of the qualitative recording form extracted 3 factors explaining 82.973% of the total variance, and it demonstrated high internal consistency (α = 0.912). The maximum performance tasks of the RDA correlated significantly with the corresponding Praat scores. The severity scale and the A-ROMP-speech correlated fairly to strongly with the Arabic Speech Intelligibility test (r=-0.695 and -0.736, < 0.001) and the VHI-10lb ( = 0.539 and 0.640, < 0.001).
CONCLUSION
The A-RDA and the A-ROMP-speech are valid and reliable dysarthria tools among Lebanese subjects.
PubMed: 38149715
DOI: 10.1080/09638288.2023.2297809 -
Journal of Speech, Language, and... Jun 2022The purpose of this study was to describe childhood dysarthria by means of auditory-perceptual analyses covering all speech subsystems. We aimed to identify the most...
PURPOSE
The purpose of this study was to describe childhood dysarthria by means of auditory-perceptual analyses covering all speech subsystems. We aimed to identify the most seriously affected auditory-perceptual dimensions in the observed dysarthria profiles and to detect specific markers of childhood dysarthria against the backdrop of typical speech development. Moreover, the relationship between the speech disorder and other relevant aspects of multiple disability was investigated.
METHOD
Thirty-one children with neurologic conditions were assessed with Bogenhausen Dysarthria Scales for Childhood Dysarthria, a German tool for the auditory-perceptual analysis of dysarthria in children. Nine relevant speech dimensions (, e.g., voice quality [VOQ]) and 29 individual symptoms (, e.g., breathy) were evaluated. Moreover, we documented motor, communicative, and cognitive-linguistic measures (i.e., Gross Motor Function Classification System [GMFCS], Communication Function Classification System [CFCS], Test for Reception of Grammar [TROG-D], and memory span). Recently published data from typically developing children were used for the purpose of age normalization.
RESULTS
Dysarthria severity was moderately correlated with GMFCS and CFCS but not with TROG-D and memory span. At the group level, respiration, articulation, and prosodic modulation were most severely affected, whereas voice function was only mildly affected or even spared in the majority of children. Four features were identified as most relevant markers of childhood dysarthria: conspicuous rhythm/stress pattern, hypernasality, strained-strangled voice, and reduced articulatory precision.
CONCLUSIONS
Childhood dysarthria is part of a complex multiple disability, but speech motor skills may still dissociate from gross-motor and cognitive-linguistic functions. Auditory-perceptual analyses incorporating age norms allow for a comprehensive description and identification of childhood dysarthria.
Topics: Child; Dysarthria; Humans; Speech; Speech Disorders; Speech Intelligibility; Speech Production Measurement; Voice Quality
PubMed: 35537116
DOI: 10.1044/2022_JSLHR-21-00608 -
Brain : a Journal of Neurology Apr 2024It is debated whether primary progressive apraxia of speech (PPAOS) and progressive agrammatic aphasia (PAA) belong to the same clinical spectrum, traditionally termed...
It is debated whether primary progressive apraxia of speech (PPAOS) and progressive agrammatic aphasia (PAA) belong to the same clinical spectrum, traditionally termed non-fluent/agrammatic variant primary progressive aphasia (nfvPPA), or exist as two completely distinct syndromic entities with specific pathologic/prognostic correlates. We analysed speech, language and disease severity features in a comprehensive cohort of patients with progressive motor speech impairment and/or agrammatism to ascertain evidence of naturally occurring, clinically meaningful non-overlapping syndromic entities (e.g. PPAOS and PAA) in our data. We also assessed if data-driven latent clinical dimensions with aetiologic/prognostic value could be identified. We included 98 participants, 43 of whom had an autopsy-confirmed neuropathological diagnosis. Speech pathologists assessed motor speech features indicative of dysarthria and apraxia of speech (AOS). Quantitative expressive/receptive agrammatism measures were obtained and compared with healthy controls. Baseline and longitudinal disease severity was evaluated using the Clinical Dementia Rating Sum of Boxes (CDR-SB). We investigated the data's clustering tendency and cluster stability to form robust symptom clusters and employed principal component analysis to extract data-driven latent clinical dimensions (LCD). The longitudinal CDR-SB change was estimated using linear mixed-effects models. Of the participants included in this study, 93 conformed to previously reported clinical profiles (75 with AOS and agrammatism, 12 PPAOS and six PAA). The remaining five participants were characterized by non-fluent speech, executive dysfunction and dysarthria without apraxia of speech or frank agrammatism. No baseline clinical features differentiated between frontotemporal lobar degeneration neuropathological subgroups. The Hopkins statistic demonstrated a low cluster tendency in the entire sample (0.45 with values near 0.5 indicating random data). Cluster stability analyses showed that only two robust subgroups (differing in agrammatism, executive dysfunction and overall disease severity) could be identified. Three data-driven components accounted for 71% of the variance [(i) severity-agrammatism; (ii) prominent AOS; and (iii) prominent dysarthria]. None of these data-driven LCDs allowed an accurate prediction of neuropathology. The severity-agrammatism component was an independent predictor of a faster CDR-SB increase in all the participants. Higher dysarthria severity, reduced words per minute and expressive and receptive agrammatism severity at baseline independently predicted accelerated disease progression. Our findings indicate that PPAOS and PAA, rather than exist as completely distinct syndromic entities, constitute a clinical continuum. In our cohort, splitting the nfvPPA spectrum into separate clinical phenotypes did not improve clinical-pathological correlations, stressing the need for new biological markers and consensus regarding updated terminology and clinical classification.
Topics: Humans; Aphasia, Broca; Dysarthria; Apraxias; Language; Speech; Aphasia, Primary Progressive; Primary Progressive Nonfluent Aphasia
PubMed: 37988272
DOI: 10.1093/brain/awad396 -
Journal of the Neurological Sciences Jan 2023Spinocerebellar ataxia type 31 (SCA31) is an autosomal dominant disease, classified amongst pure cerebellar ataxias (ADCA type 3). While SCA31 is the third most... (Review)
Review
Spinocerebellar ataxia type 31 (SCA31) is an autosomal dominant disease, classified amongst pure cerebellar ataxias (ADCA type 3). While SCA31 is the third most prevalent autosomal dominant ataxia in Japan, it is extremely rare in other countries. A literature review was conducted on PubMed, where we included all case reports and studies describing the clinical presentation of original SCA31 cases. The clinical and radiological features of 374 patients issued from 25 studies were collected. This review revealed that the average age of onset was 59.1 ± 3.3 years, with symptoms of slowly progressing ataxia and dysarthria. Other common clinical features were oculomotor dysfunction (38.8%), dysphagia (22.1%), hypoacousia (23.3%), vibratory hypoesthesia (24.3%), and dysreflexia (41.6%). Unfrequently, abnormal movements (7.4%), extrapyramidal symptoms (4.5%) and cognitive impairment (6.9%) may be observed. Upon radiological examination, clinicians can expect a high prevalence of cerebellar atrophy (78.7%), occasionally accompanied by brainstem (9.1%) and cortical (9.1%) atrophy. Although SCA31 is described as a slowly progressive pure cerebellar syndrome characterized by cerebellar signs such as ataxia, dysarthria and oculomotor dysfunction, this study evaluated a high prevalence of extracerebellar manifestations. Extracerebellar signs were observed in 52.5% of patients, primarily consisting of dysreflexia, vibratory hypoesthesia and hypoacousia. Nonetheless, we must consider the old age and longstanding disease course of patients as a confounding factor for extracerebellar sign development, as some may not be directly attributable to SCA31. Clinicians should consider SCA31 in patients with a hereditary, pure cerebellar syndrome and in patients with extracerebellar signs.
Topics: Humans; Middle Aged; Dysarthria; Hypesthesia; Spinocerebellar Ataxias; Cerebellar Ataxia; Atrophy
PubMed: 36563608
DOI: 10.1016/j.jns.2022.120527 -
Clinical Linguistics & Phonetics Aug 2021Impairment of vowel production in dysarthria has been highly valued. This study aimed to explore the vowel production of Mandarin-speakers with post-stroke spastic...
Impairment of vowel production in dysarthria has been highly valued. This study aimed to explore the vowel production of Mandarin-speakers with post-stroke spastic dysarthria in connected speech and to explore the influence of gender and tone on the vowel production. Multiple vowel acoustic metrics, including F1 range, F2 range, vowel space area (VSA), vowel articulation index (VAI) and formant centralization ratio (FCR), were analyzed from vowel tokens embedded in connected speech produced. The participants included 25 clients with spastic dysarthria secondary to stroke (15 males, 10 females) and 25 speakers with no history of neurological disease (15 males, 10 females). Variance analyses were conducted and the results showed that the main effects of population, gender, and tone on F2 range, VSA, VAI, and FCR were all significant. Vowel production became centralized in the clients with post-stroke spastic dysarthria. Vowel production was found to be more centralized in males compared to females. Vowels in neutral tone (T0) were the most centralized among the other tones. The quantitative acoustic metrics of F2 range, VSA, VAI, and FCR were effective in predicting vowel production in Mandarin-speaking clients with post-stroke spastic dysarthria, and hence may be used as powerful tools to assess the speech performance for this population.
Topics: Acoustics; Benchmarking; Dysarthria; Female; Humans; Male; Phonetics; Speech Acoustics; Speech Production Measurement
PubMed: 32985269
DOI: 10.1080/02699206.2020.1827295 -
Language, Speech, and Hearing Services... Oct 2022While there has been mounting research centered on the diagnosis of childhood apraxia of speech (CAS), little has focused on differentiating CAS from pediatric... (Review)
Review
PURPOSE
While there has been mounting research centered on the diagnosis of childhood apraxia of speech (CAS), little has focused on differentiating CAS from pediatric dysarthria. Because CAS and dysarthria share overlapping speech symptoms and some children have both motor speech disorders, differential diagnosis can be challenging. There is a need for clinical tools that facilitate assessment of both CAS and dysarthria symptoms in children. The goals of this tutorial are to (a) determine confidence levels of clinicians in differentially diagnosing dysarthria and CAS and (b) provide a systematic procedure for differentiating CAS and pediatric dysarthria in children.
METHOD
Evidence related to differential diagnosis of CAS and dysarthria is reviewed. Next, a web-based survey of 359 pediatric speech-language pathologists is used to determine clinical confidence levels in diagnosing CAS and dysarthria. Finally, a checklist of pediatric auditory-perceptual motor speech features is presented along with a procedure to identify CAS and dysarthria in children with suspected motor speech impairments. Case studies illustrate application of this protocol, and treatment implications for complex cases are discussed.
RESULTS
The majority (60%) of clinician respondents reported low or no confidence in diagnosing dysarthria in children, and 40% reported they tend not to make this diagnosis as a result. Going forward, clinicians can use the feature checklist and protocol in this tutorial to support the differential diagnosis of CAS and dysarthria in clinical practice.
CONCLUSIONS
Incorporating this diagnostic protocol into clinical practice should help increase confidence and accuracy in diagnosing motor speech disorders in children. Future research should test the sensitivity and specificity of this protocol in a large sample of children with varying speech sound disorders. Graduate programs and continuing education trainings should provide opportunities to practice rating speech features for children with dysarthria and CAS.
SUPPLEMENTAL MATERIAL
https://doi.org/10.23641/asha.19709146.
Topics: Apraxias; Child; Diagnosis, Differential; Dysarthria; Humans; Speech; Speech Disorders; Speech-Language Pathology
PubMed: 35523425
DOI: 10.1044/2022_LSHSS-21-00164 -
Muscle & Nerve Nov 2021Bulbar dysfunction is a common presentation of amyotrophic lateral sclerosis (ALS) and significantly impacts quality of life of people with ALS (PALS). The current paper... (Review)
Review
Bulbar dysfunction is a common presentation of amyotrophic lateral sclerosis (ALS) and significantly impacts quality of life of people with ALS (PALS). The current paper reviews measurements of dysarthria and dysphagia specific to ALS to identify efficient and valid assessment measures. Using such assessment measures will lead to improved management of bulbar dysfunction in ALS. Measures reviewed for dysarthria in PALS are organized into three categories: acoustic, kinematic, and strength. A set of criteria are used to evaluate the effectiveness of the measures' identification of speech impairments, measurement of functional verbal communication, and clinical applicability. Assessments reviewed for dysphagia in PALS are organized into six categories: patient reported outcomes, dietary intake, pulmonary function and airway defense capacity, bulbar function, dysphagia/aspiration screens, and instrumental evaluations. Measurements that have good potential for clinical use are highlighted in both topic areas. Additionally, areas of improvement for clinical practice and research are identified and discussed. In general, no single speech measure fulfilled all the criteria, although a few measures were identified as potential diagnostic tools. Similarly, few objective measures that were validated and replicated with large sample sizes were found for diagnosis of dysphagia in PALS. Importantly, clinical applicability was found to be limited; thus, a collaborative team focused on implementation science would be helpful to improve the clinical uptake of assessments. Overall, the review highlights the need for further development of clinically viable and efficient measurements that use a multidisciplinary approach.
Topics: Amyotrophic Lateral Sclerosis; Deglutition Disorders; Dysarthria; Humans; Quality of Life; Speech
PubMed: 34296769
DOI: 10.1002/mus.27361 -
The International Journal of... Dec 2023A case admitted with dysarthria and syncope and hyperintense lesion in the splenium of the corpus callosum, diagnosed as Legionnaires' disease by detecting Legionella...
PURPOSE/AIM OF THE STUDY
A case admitted with dysarthria and syncope and hyperintense lesion in the splenium of the corpus callosum, diagnosed as Legionnaires' disease by detecting Legionella antigen in the urine, and recovered only with antibiotic treatment is presented because it is rare in the literature.
MATERIALS AND METHODS
When a 64-year-old female patient was admitted to the emergency department with complaints of sudden loss of consciousness and fainting at home, she had speech impairment, and her pulse oxygen saturation in room air was 88%. In the neurological examination, there was no pathological finding except dysarthria in the patient with no motor deficit. The patient had no respiratory complaints and had a recent travel history. In laboratory examinations, hyponatremia was detected with increased C-reactive protein and liver enzymes. Consolidation was observed in the lower right zone on chest computed tomography. Ampicillin + sulbactam (4x1 gr, intravenous) and clarithromycin (2 × 500 mg orally) were initiated. On cranial magnetic resonance, a hyperintense lesion was observed in the splenium of the corpus callosum in the oval T2 sequence. serogroup 1 antigen in urine was reported as positive. On the fourth day of her hospitalization, the patient, whose CRP and liver enzyme values regressed, her hyponatremia improved, her pulse oxygen saturation increased to 92% in room air, and her speech became comprehensible, was discharged after oral antibiotic treatment was arranged. On the 12 day, the speech ability of the patient completely returned to normal.
CONCLUSION
Legionella infection should be suspected in the presence of pneumonia and corpus callosum splenium lesion.
PubMed: 38060476
DOI: 10.1080/00207454.2023.2292952