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Experimental Brain Research Jan 2022The anatomical relationship between speech apraxia (SA) and oral apraxia (OA) is still unclear. To shed light on this matter we studied 137 patients with acute ischaemic...
The anatomical relationship between speech apraxia (SA) and oral apraxia (OA) is still unclear. To shed light on this matter we studied 137 patients with acute ischaemic left-hemisphere stroke and performed support vector regression-based, multivariate lesion-symptom mapping. Thirty-three patients presented with either SA or OA. These two symptoms mostly co-occurred (n = 28), except for few patients with isolated SA (n = 2) or OA (n = 3). All patient with either SA or OA presented with aphasia (p < 0.001) and these symptoms were highly associated with apraxia (p < 0.001). Co-occurring SA and OA were predominantly associated with insular lesions, while the insula was completely spared in the five patients with isolated SA or OA. Isolated SA occurred in case of frontal lesions (prefrontal gyrus and superior longitudinal fasciculus), while isolated OA occurred in case of either temporoparietal or striatocapsular lesions. Our study supports the notion of a predominant, but not exclusive, role of the insula in verbal and non-verbal oral praxis, and indicates that frontal regions may contribute exclusively to verbal oral praxis, while temporoparietal and striatocapsular regions contribute to non-verbal oral praxis. However, since tests for SA and OA so far intrinsically also investigate aphasia and apraxia, refined tests are warranted.
Topics: Aphasia; Apraxias; Humans; Magnetic Resonance Imaging; Speech; Stroke
PubMed: 34652492
DOI: 10.1007/s00221-021-06224-3 -
American Journal of Speech-language... Jan 2023Apraxia of speech (AOS) and childhood apraxia of speech (CAS) are motor-based speech disorders that have been well studied in Indo-European languages. There is limited... (Review)
Review
PURPOSE
Apraxia of speech (AOS) and childhood apraxia of speech (CAS) are motor-based speech disorders that have been well studied in Indo-European languages. There is limited understanding of these disorders in speakers of Sino-Tibetan languages, such as Chinese. The purpose of this study is to review methods used in research studies for the assessment and diagnosis of AOS and CAS in Chinese speakers.
METHOD
This scoping review followed the Preferred Reporting Items for Systematic Reviews and Meta-Analyses Extension for Scoping Reviews guidelines. Articles with a focus on AOS or CAS in Chinese speakers were systematically searched in seven English and six Chinese databases. Three reviewers performed independent screening, data extraction, and quality assessment after obtaining 100% agreement on the prescreening exercise. A qualitative analysis was conducted to rate the quality of diagnoses, ranging from high (Level I) to low (Level III), with Level IV assigned to studies for which the appropriate rating was unclear due to insufficient evidence.
RESULTS
Twenty-eight AOS articles and five CAS articles were identified. A variety of assessment and diagnostic methods were reported. No study of Chinese speakers with AOS or CAS received a rating of Level I. The highest level achieved was Level IIIa for both AOS and CAS studies.
CONCLUSIONS
There is no reliable and valid test or method for the diagnosis of AOS or CAS in Chinese speakers. The current gold standard of diagnosis is based upon expert perceptual judgment. Further single-language and cross-linguistic investigations of AOS and CAS and the future development of assessment and diagnostic methods are recommended.
Topics: Adult; Child; Humans; Apraxias; East Asian People; Speech; Speech Disorders; Speech Production Measurement
PubMed: 36378894
DOI: 10.1044/2022_AJSLP-21-00355 -
Dysphagia Feb 2023Aim of this study was to investigate the effect of post-stroke oral apraxia on dysphagia in patients with subacute stroke. We retrospectively analyzed the clinical data...
Aim of this study was to investigate the effect of post-stroke oral apraxia on dysphagia in patients with subacute stroke. We retrospectively analyzed the clinical data of 130 supratentorial stroke patients from January 2015 to February 2021 who underwent a formal limb and oral apraxia test and videofluoroscopic swallowing study (VFSS), and we compared the patients in two groups: the apraxia and non-apraxia (oral apraxia score > 45 and ≤ 45 points, respectively). All the patients participated in the standardized testing battery. The test variables were videofluoroscopic dysphagia scale (VDS), oral transit time (OTT), pharyngeal delay time (PDT), pharyngeal transit time, and penetration-aspiration scale (PAS); we conducted multivariable regression analysis with those parameters to confirm the significance of oral apraxia as a clinical determinant of post-stroke dysphagia. The mean oral apraxia scores were 38.4 and 47.6 points in the apraxia and non-apraxia groups, respectively (p < 0.001). The apraxia group had a higher proportion of delayed OTT for the 2-mL-thick liquid than the non-apraxia group (17.6% and 4.2%, respectively; p = 0.011). Oral apraxia was a significant determinant of VDS (p < 0.001), delayed OTT of 2-mL-thick liquids (p = 0.028), delayed PDT of cup drinking for thin liquid (p = 0.044), and PAS scores (p = 0.003). The presence of oral apraxia was significantly associated with dysphagia, especially with the VFSS parameters of the oral phase (thick liquid), pharyngeal phase (cup drinking for thin liquid) of swallowing, and increased risk of aspiration in subacute stroke patients. Thus, a formal assessment of oral apraxia is needed for stroke patients with dysphagia.
Topics: Humans; Deglutition Disorders; Retrospective Studies; Deglutition; Stroke; Apraxias
PubMed: 35508738
DOI: 10.1007/s00455-022-10458-w -
American Journal of Speech-language... Mar 2023The purpose of this study was to examine the interrater reliability and validity of the Apraxia of Speech Rating Scale (ASRS-3.5) as an index of the presence and...
PURPOSE
The purpose of this study was to examine the interrater reliability and validity of the Apraxia of Speech Rating Scale (ASRS-3.5) as an index of the presence and severity of apraxia of speech (AOS) and the prominence of several of its important features.
METHOD
Interrater reliability was assessed for 27 participants. Validity was examined in a cohort of 308 participants (120 with and 188 without progressive AOS) through item analysis; item-Total score correlations; correlations among ASRS Total score and component subscores and independent clinical ratings of AOS, dysarthria and aphasia severity, intelligibility, and articulatory errors, as well as years postonset and age; and regression models assessing item and Total score prediction of AOS presence.
RESULTS
Interrater reliability was good or excellent for most items and excellent for the Total score. Item and Total score analyses revealed good separation of participants with versus without AOS. Inter-item and item-Total score correlations were generally moderately high as were correlations between the ASRS Total score and independent ratings of AOS severity, intelligibility, and articulatory errors. The Total score was not meaningfully correlated with ratings of aphasia and dysarthria severity, years postonset, or age. Total scores below 7 and above 10 revealed excellent diagnostic sensitivity and specificity for AOS. The presence of eight or more abnormal features was also highly predictive of AOS presence.
CONCLUSIONS
The ASRS-3.5 is a reliable and valid scale for identifying the presence and severity of AOS and its predominant features. It has excellent sensitivity to AOS presence and excellent specificity relative to aphasia and dysarthria in patients with neurodegenerative disease.
SUPPLEMENTAL MATERIAL
https://doi.org/10.23641/asha.21817584.
Topics: Humans; Speech; Neurodegenerative Diseases; Reproducibility of Results; Dysarthria; Apraxias; Aphasia
PubMed: 36630926
DOI: 10.1044/2022_AJSLP-22-00148 -
Journal of Stroke and Cerebrovascular... Feb 2023Limb apraxia, a complication of stroke, causes difficulties in performing activities of daily living (ADL). To date, there are no studies on the effectiveness of limb... (Meta-Analysis)
Meta-Analysis Review
OBJECTIVE
Limb apraxia, a complication of stroke, causes difficulties in performing activities of daily living (ADL). To date, there are no studies on the effectiveness of limb apraxia interventions. We conducted a meta-analysis to assess the effectiveness of limb apraxia interventions in reducing its severity and improving ADL.
METHODS
We conducted a search of randomized controlled trials (RCTs) related to limb apraxia till December 2021 using the databases of PubMed, Embase, CINAHL, and the Cochrane Library. We measured the outcome variables in the subgroups of total apraxia (TA), ideational apraxia (IA), ideomotor apraxia (IMA), and ADL. The Physiotherapy Evidence Database (PEDro) scale was used to assess the quality.
RESULTS
Five RCTs were selected, and of the 310 participants, 155 were in the experimental and 155 in the control group. A random-effects model was used for the effect size distribution. The limb apraxia intervention methods included gesture and strategy training (three and two studies, respectively). The effect sizes of the outcome variables in the subgroups were small for the TA and IA, with 0.475 (95% confidence interval [CI]: -0.151-1.102; p = 0.137) and 0.289 (95% CI: -0.144-0.722; p = 0.191), respectively. IMA had a medium effect size of 0.731 (95% CI: -0.062-1.525; p = 0.071), not statistically significant, whereas ADL effect size was small and statistically significant, 0.416 (95% CI: 0.159-0.673; p = 0.002).
CONCLUSIONS
Gesture and strategy training had statistically significant effects on ADL as limb apraxia interventions. Therefore, the effectiveness of the apraxia interventions needs to be further evaluated through continuous RCTs.
Topics: Humans; Activities of Daily Living; Stroke Rehabilitation; Randomized Controlled Trials as Topic; Stroke; Apraxias
PubMed: 36512886
DOI: 10.1016/j.jstrokecerebrovasdis.2022.106921 -
Parkinsonism & Related Disorders Jul 2021Apraxia is a core clinical feature of corticobasal syndrome (CBS). Among the subtypes of apraxia, ideomotor and imitation apraxia are frequently found in CBS. However,...
INTRODUCTION
Apraxia is a core clinical feature of corticobasal syndrome (CBS). Among the subtypes of apraxia, ideomotor and imitation apraxia are frequently found in CBS. However, little is known about the brain networks that are characteristic of each apraxia subtype or their clinical implication. In this study, we used F-fluorodeoxyglucose positron emission tomography (FDG-PET) to explore the specific patterns of glucose hypometabolism that are characteristic of apraxia subtypes by focusing on ideomotor and imitation apraxia.
METHODS
We compared the areas of glucose hypometabolism in the brains of 52 patients with CBS and 13 healthy controls, both as a whole and according to apraxia subtypes. In addition, we investigated the relationship between the apraxia subtypes and the clinical phenotype of CBS.
RESULTS
In patients with CBS, common hypometabolism was observed in the frontal gyrus, precentral gyrus and caudate regardless of apraxia subtypes. In particular, ideomotor apraxia was associated with hypometabolism in the angular gyrus, while imitation apraxia was associated with hypometabolism in the posterior part including the postcentral gyrus, precuneus, and posterior cingulate gyrus. Patients who showed both ideomotor and imitation apraxia were more likely to show the typical features of CBS and progressive supranuclear palsy compared with patients showing only one type of apraxia.
CONCLUSION
Group comparison analysis using FDG-PET revealed distinct pathways of ideomotor and imitation apraxia in CBS. These findings add to our understanding of the brain networks underlying apraxia in association with the clinical features of CBS.
Topics: Aged; Apraxia, Ideomotor; Apraxias; Caudate Nucleus; Cerebral Cortex; Corticobasal Degeneration; Female; Fluorodeoxyglucose F18; Humans; Imitative Behavior; Male; Middle Aged; Nerve Net; Positron-Emission Tomography
PubMed: 34166866
DOI: 10.1016/j.parkreldis.2021.06.006 -
Dementia and Geriatric Cognitive... 2022Ideomotor apraxia, a disorder of skilled movements affecting limbs and/or face, can be seen in patients with Parkinson's disease (PD), yet tests of apraxia in PD are...
INTRODUCTION
Ideomotor apraxia, a disorder of skilled movements affecting limbs and/or face, can be seen in patients with Parkinson's disease (PD), yet tests of apraxia in PD are rare. The aim of this project was to evaluate the psychometric properties and validity of the Dementia Apraxia Test (DATE) in a PD sample.
METHODS
118 PD patients were included. Besides DATE performance, motor and non-motor burden, cognition, and activity of daily living (ADL) function were assessed. Patients were classified as cognitively impaired (n = 41) or non-cognitively impaired (n = 77).
RESULTS
Interrater reliability of the DATE (sub-)scores between video ratings and on-site ratings by the investigator was good (0.81 ≤ rk ≤ 0.87). Items were mostly easy to perform, especially the buccofacial apraxia items, which had also low discriminatory power. DATE scores were associated with cognition and ADL function. DATE performance was confounded by motor impairment and patients' age; however, when analysed for both cognitive groups separately, the correlation between DATE and motor performance was not significant.
DISCUSSION/CONCLUSION
The DATE seems to be an objective and predominantly valid apraxia screening tool for PD patients, with a few items needing revision. Due to the potential effect of motor impairment and age, standardized scores adjusting for these confounders are needed.
Topics: Alzheimer Disease; Apraxias; Dementia; Humans; Neuropsychological Tests; Parkinson Disease; Reproducibility of Results
PubMed: 35850108
DOI: 10.1159/000525618 -
Journal of AAPOS : the Official... Apr 2022Wieacker-Wolff syndrome is an X-linked condition caused by variants of the ZC4H2 gene that results in in utero muscular weakness that manifests clinically as...
Wieacker-Wolff syndrome is an X-linked condition caused by variants of the ZC4H2 gene that results in in utero muscular weakness that manifests clinically as arthrogryposis congenita as well as facial and bulbar weakness. We report the case of a young girl with a de novo pathogenic deletion in the ZC4H2 gene and clinical features consistent with Wieacker-Wolff syndrome. Common eye manifestations of the syndrome reported in the literature include ptosis, strabismus, and oculomotor apraxia. The overall incidence of these manifestations is 56%.
Topics: Apraxias; Contracture; Female; Genetic Diseases, X-Linked; Humans; Intracellular Signaling Peptides and Proteins; Muscular Atrophy; Nuclear Proteins; Ophthalmoplegia
PubMed: 35121145
DOI: 10.1016/j.jaapos.2021.10.010 -
International Journal of Environmental... Dec 2022A 55-year-old male patient with a known medical history of diabetes mellitus type 2 and treated lymphoma was first admitted with a sudden left-sided facial asymmetry and...
A 55-year-old male patient with a known medical history of diabetes mellitus type 2 and treated lymphoma was first admitted with a sudden left-sided facial asymmetry and mouth deviation to the left side with no other neurological symptoms. A Computerized Tomography (CT) scan of the brain showed acute infarct and small left basal ganglia old lacunar infarction. He was discharged on a dual antiplatelet. One week later, the patient's condition had worsened and, therefore, was admitted with an impression of ischemic stroke. A bedside swallowing assessment, VFSS, and FEES study were conducted to diagnose this case. The bedside assessment did not reveal any sensory or motor deficits in his oral cavity and the FEES examination was also unable to rule out pharyngeal dysphagia. However, a videofluoroscopic swallowing study (VFSS) revealed a significant dysfunction of oral preparation and oral phases and presented difficulty initiating the pharyngeal phase. Given these features, we believe that this swallowing difficulty is caused by swallowing apraxia. This case provides additional information and understanding on management from the swallowing side.
Topics: Male; Humans; Middle Aged; Ischemic Stroke; Deglutition; Deglutition Disorders; Fluoroscopy; Pharynx; Stroke
PubMed: 36498400
DOI: 10.3390/ijerph192316329 -
Ophthalmic Genetics Oct 2022Bi-allelic mutations in LAMA1 (laminin 1) (OMIM # 150320) cause Poretti-Boltshauser Syndrome (PTBHS), a rare non-progressive cerebellar dysplasia disorder with...
PURPOSE
Bi-allelic mutations in LAMA1 (laminin 1) (OMIM # 150320) cause Poretti-Boltshauser Syndrome (PTBHS), a rare non-progressive cerebellar dysplasia disorder with ophthalmic manifestations including oculomotor apraxia, high myopia, and retinal dystrophy. Only 38 variants, nearly all loss of function have been reported. Here, we describe novel LAMA1 variants and detailed retinal manifestations in two unrelated families.
METHODS
Whole-genome sequencing was conducted on three siblings of a consanguineous family with myopia and retinal dystrophy and on a child from an unrelated non-consanguineous couple. Clinical evaluation included full ophthalmic examination, detailed colour, autofluorescence retinal imaging, retinal optical coherence tomography (OCT), fluorescein angiography under anesthesia, and pattern and full-field electroretinography.
RESULTS
Genetic analysis revealed a novel homozygous LAMA1 frameshift variant, c.1492del p.(Arg498Glyfs *25), in the affected siblings in family 1 and a novel frameshift c.3065del p.(Gly1022Valfs *2) and a deletion spanning exons 17-23 in an unrelated individual in family 2. Two of the three siblings and the unrelated child had oculomotor apraxia in childhood; none of the siblings had symptoms of other neurological dysfunction as adults. All four had myopia. The affected siblings had a qualitatively similar retinopathy of wide-ranging severity. The unrelated patient had a severe abnormality of retinal vascular development, which resulted in vitreous haemorrhage and neovascular glaucoma in the left eye and a rhegmatogenous retinal detachment in the right eye.
CONCLUSIONS
This report describes the detailed retinal structural and functional consequences of LAMA1 deficiency in four patients from two families, and these exhibit significant variability with evidence of both retinal dystrophy and abnormal and incomplete retinal vascularisation.
Topics: Adult; Apraxias; Child; Electroretinography; Humans; Mutation; Myopia; Pedigree; Retinal Dystrophies; Tomography, Optical Coherence
PubMed: 35616092
DOI: 10.1080/13816810.2022.2076283