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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 -
Journal of Pediatric Rehabilitation... 2022The Radboud Dysarthria Assessment (RDA) was published in 2014. Adaptation into a pediatric version (p-RDA) was required because of relevant differences between children...
PURPOSE
The Radboud Dysarthria Assessment (RDA) was published in 2014. Adaptation into a pediatric version (p-RDA) was required because of relevant differences between children and adults. The purpose of this study was to assess the feasibility of the p-RDA and to test intra-rater and inter-rater reliability as well as the validity of the two severity scales (function and activity level).
METHODS
Video recordings were made of 35 participants with (suspected) dysarthria (age 4 to 17 years) while being assessed using the p-RDA. Intra-rater reliability was assessed by one, and inter-rater reliability by two experiments using the Intraclass Correlation Coefficient (ICC). Validity of the severity scales was tested by correlating the consensus scores with the independently rated scores on four communication scales, three mobility scales, and one self-care scale using Spearman correlation coefficients (rs).
RESULTS
The assessment was applicable for 89% of the tested sample, with good intra-rater and inter-rater reliability (ICC = 0.88-0.98 and 0.83-0.93). The p-RDA severity scales (function and activity level) correlated from substantially to strongly with the communication scales (rs = 0.69-0.82 and 0.77-0.92) and self-care scale (rs = 0.76-0.71) and correlated substantially with the mobility scales (rs = 0.49-0.60).
CONCLUSION
The feasibility, reliability and validity of the p-RDA are sufficient for clinical use.
Topics: Adolescent; Adult; Child; Child, Preschool; Dysarthria; Humans; Reproducibility of Results; Self Care
PubMed: 34744057
DOI: 10.3233/PRM-190671 -
European Journal of Case Reports in... 2022Tetanus is a vaccine-preventable disease caused by a neurotoxin produced by that proliferates in wound sites. Toxin interference with neuromuscular function leads to...
INTRODUCTION
Tetanus is a vaccine-preventable disease caused by a neurotoxin produced by that proliferates in wound sites. Toxin interference with neuromuscular function leads to spasms. Trismus, risus sardonicus and opisthotonus are classic features, but tetanus can begin with subtler symptoms.
CASE DESCRIPTION
An 80-year-old man presented with dysarthria. His medical history included hypertension and dyslipidaemia. No other neurological compromise was apparent on admission. Cranioencephalic computed tomography suggested pontine and mesencephalic ischaemia and stroke treatment was implemented. Two days later, the patient displayed dysphagia that required nasogastric intubation. The next day, he developed an apparent tonic seizure with respiratory distress refractory to diazepam and phenytoin, which required sedation and invasive mechanical ventilation. Ultimately, he manifested trismus and generalized spasms. Once the diagnosis of tetanus was established, he was given anti-tetanus immunoglobulin, tetanus toxoid vaccine and metronidazole. Magnetic resonance imaging did not reveal any brain injury. During his intensive care stay, he showed cardiovascular instability, developed nosocomial pneumonia, and required prolonged ventilator support and tracheostomy. He gradually improved during a 70-day hospital stay and regained his previous functional status.
DISCUSSION
Dysarthria in an older patient with known cerebrovascular risk factors in addition to possible brainstem ischaemia contributed to an incorrect diagnosis of acute ischaemic stroke. Early manifestations of tetanus can mimic focal deficits. The limitations of brainstem computed tomography should be kept in mind.
CONCLUSION
Older patients present a broader range of signs suggesting tetanus, including a higher frequency of bulbar symptoms, on presentation. A careful anamnesis including previous vaccination history is key for identifying high-risk patients and to widen the differential diagnosis to include tetanus.
LEARNING POINTS
Symptoms of tetanus include bulbar symptoms such as dysphagia and dysarthria in addition to muscle spasms.Older patients, especially if unvaccinated, are a vulnerable group in which a diagnosis of tetanus should be considered.One-slice non-contrast enhanced computed tomography of the brainstem is unreliable given the high frequency of technical artifacts.
PubMed: 35169580
DOI: 10.12890/2022_003131 -
The Laryngoscope Jun 2022To investigate the presence, degree, predictors, and trajectory of dysphagia, dysphonia, and dysarthria among adults hospitalized with COVID-19 across the Republic of... (Observational Study)
Observational Study
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.
Topics: Adult; COVID-19; Deglutition Disorders; Dysarthria; Dysphonia; Hoarseness; Humans; Ireland; Prospective Studies
PubMed: 34622966
DOI: 10.1002/lary.29900 -
European Annals of Otorhinolaryngology,... Aug 2022
Topics: Dysarthria; Humans; Tongue; Tongue Diseases
PubMed: 34625390
DOI: 10.1016/j.anorl.2021.07.013 -
Journal of Speech, Language, and... Jan 2023While dysarthria and dysphagia are known bulbar manifestations of amyotrophic lateral sclerosis (ALS), the relative prevalence of speech and swallowing impairments and...
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 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 ( = .01), and bulbar impairment profile distributions in rank order included (a) dysphagia - dysarthria (59%, = 52), (b) no dysphagia - dysarthria (19%, = 17), (c) no dysphagia - no dysarthria (13%, = 11), and (d) dysphagia - no dysarthria (9%, = 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 ( > .05). ALSFRS-R bulbar subscale scores were significantly lower in individuals with dysphagia versus no dysphagia (8.4 vs. 10.4, < .0001) and dysarthria versus no dysarthria (8.5 vs. 10.9, < .0001). Dysphagia and onset type ( = .003) and dysarthria and onset type were associated ( < .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.
Topics: Humans; Amyotrophic Lateral Sclerosis; Severity of Illness Index; Deglutition Disorders; Dysarthria; Deglutition
PubMed: 36525626
DOI: 10.1044/2022_JSLHR-22-00312 -
Developmental Medicine and Child... Apr 2021To investigate whether dysarthria syndromes acquired in adulthood can also be observed in children with cerebral palsy (CP) and, if so, whether they align with...
AIM
To investigate whether dysarthria syndromes acquired in adulthood can also be observed in children with cerebral palsy (CP) and, if so, whether they align with children's CP subtypes.
METHOD
Twenty-six children with CP participated (mean age 7y 8mo [SD 1y 2mo], 5y 1mo-9y 10mo; 16 males and 10 females). Speech samples were elicited in a computer-based game and were analysed using the auditory perceptual criteria of the Bogenhausen Dysarthria Scales (BoDyS). For statistical classification, three comparison groups of adults with standard dysarthria syndromes (i.e. spastic, hyperkinetic, and ataxic) were used. Their BoDyS data were entered into a mixture discriminant analysis, with data from the comparison groups as the training sample and those from the children with CP as the test sample. Results were related to findings in a group of adults with CP.
RESULTS
Among the children with CP, most had spastic (n=14), while fewer had ataxic (n=9) or hyperkinetic (n=3), dysarthria. However, syndrome allocations were significantly more ambiguous than in adults with CP. For 11 children, their dysarthria syndromes did not align with their CP subtype.
INTERPRETATION
Dysarthria syndromes are less clear cut in children than in adults with CP because of a number of developmental factors.
WHAT THIS PAPER ADDS
Children with cerebral palsy (CP) show diverse patterns of dysarthric symptoms. Dysarthria syndromes do not seem to manifest fully during childhood. Dysarthria syndrome and CP subtype may not align in children with CP.
Topics: Cerebral Palsy; Child; Child, Preschool; Dysarthria; Female; Humans; Male; Speech
PubMed: 32970343
DOI: 10.1111/dmcn.14679 -
Brain Sciences Mar 2022Communicative participation is restricted in many conditions associated with dysarthria. This position paper defines and describes the construct of communicative...
Communicative participation is restricted in many conditions associated with dysarthria. This position paper defines and describes the construct of communicative participation. In it, the emergence of this construct is reviewed, along with the predictors of and variables associated with communicative participation in the dysarthrias. In doing so, the features that make communicative participation unique and distinct from other measures of dysarthria are highlighted, through emphasizing how communicative participation cannot be predicted solely from other components of the World Health Organization's International Classification of Functioning, Disability and Health (ICF), including levels of impairment or activity limitations. Next, the empirical literature related to the measurement of communicative participation and how this research relates to dysarthria management is presented. Finally, the development of robust clinical measures of communicative participation and approaches to management is described from the point of view of the clinician. We argue that communicative participation should be a primary focus of treatment planning and intervention to provide patient-centered, holistic, and value-based clinical interventions which are responsive to the needs of individuals living with dysarthria.
PubMed: 35447952
DOI: 10.3390/brainsci12040420 -
BMJ Case Reports Mar 2020Severe hyperhomocysteinemia (>100 µmol/L) is often associated with inborn errors of homocysteine metabolism. It manifests typically in neonatal period with...
Severe hyperhomocysteinemia (>100 µmol/L) is often associated with inborn errors of homocysteine metabolism. It manifests typically in neonatal period with developmental delay, hypotonia, feeding problems or failure to thrive. Adult-onset forms are rare and include less severe manifestations. Early diagnosis is crucial because effective treatment is available. A 23-year-old man presented with a 3-week history of speech and gait impairment, and numbness in lower limbs. Neurological examination revealed dysarthria, decreased vibratory sensation in both legs and appendicular and gait ataxia. Brain MRI revealed T2-hyperintense symmetric white matter lesions and cortical atrophy. He had folate and vitamin B deficiency, a markedly elevated serum homocysteine and low methionine. Despite vitamin supplementation homocysteine levels remained elevated. Molecular studies of 5,10-methylenetetrahydrofolate reductase () gene revealed a new pathogenic mutation (c.1003C>T (p.Arg335Cys)) and a polymorphism (C677T (p.Ala222Val)) associated with hyperhomocysteinemia, both in homozygosity. The patient started betaine with clinical and biochemical improvement.
Topics: Age of Onset; Betaine; Dysarthria; Folic Acid; Gait Ataxia; Homocystinuria; Humans; Male; Methylenetetrahydrofolate Reductase (NADPH2); Muscle Spasticity; Psychotic Disorders; Tremor; Vitamin B 12; Young Adult
PubMed: 32161077
DOI: 10.1136/bcr-2019-232241 -
Journal of the International... May 2021To investigate the impact of cognitive impairment on spoken language produced by speakers with multiple sclerosis (MS) with and without dysarthria.
OBJECTIVE
To investigate the impact of cognitive impairment on spoken language produced by speakers with multiple sclerosis (MS) with and without dysarthria.
METHOD
Sixty speakers comprised operationally defined groups. Speakers produced a spontaneous speech sample to obtain speech timing measures of speech rate, articulation rate, and silent pause frequency and duration. Twenty listeners judged the overall perceptual severity of the samples using a visual analog scale that ranged from no impairment to severe impairment (speech severity). A 2 × 2 factorial design examined main and interaction effects of dysarthria and cognitive impairment on speech timing measures and speech severity in individuals with MS. Each speaker group with MS was further compared to a healthy control group. Exploratory regression analyses examined relationships between cognitive and biopsychosocial variables and speech timing measures and perceptual judgments of speech severity, for speakers with MS.
RESULTS
Speech timing was significantly slower for speakers with dysarthria compared to speakers with MS without dysarthria. Silent pause durations also significantly differed for speakers with both dysarthria and cognitive impairment compared to MS speakers without either impairment. Significant interactions between dysarthria and cognitive factors revealed comorbid dysarthria and cognitive impairment contributed to slowed speech rates in MS, whereas dysarthria alone impacted perceptual judgments of speech severity. Speech severity was strongly related to pause duration.
CONCLUSIONS
The findings suggest the nature in which dysarthria and cognitive symptoms manifest in objective, acoustic measures of speech timing and perceptual judgments of severity is complex.
Topics: Cognitive Dysfunction; Dysarthria; Humans; Language; Multiple Sclerosis; Speech Acoustics
PubMed: 33190658
DOI: 10.1017/S1355617720001113