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Journal of Speech, Language, and... Aug 2019Background With respect to the clinical criteria for diagnosing childhood apraxia of speech (commonly defined as a disorder of speech motor planning and/or programming),... (Review)
Review
Background With respect to the clinical criteria for diagnosing childhood apraxia of speech (commonly defined as a disorder of speech motor planning and/or programming), research has made important progress in recent years. Three segmental and suprasegmental speech characteristics-error inconsistency, lengthened and disrupted coarticulation, and inappropriate prosody-have gained wide acceptance in the literature for purposes of participant selection. However, little research has sought to empirically test the diagnostic validity of these features. One major obstacle to such empirical study is the fact that none of these features is stated in operationalized terms. Purpose This tutorial provides a structured overview of perceptual, acoustic, and articulatory measurement procedures that have been used or could be used to operationalize and assess these 3 core characteristics. Methodological details are reviewed for each procedure, along with a short overview of research results reported in the literature. Conclusion The 3 types of measurement procedures should be seen as complementary. Some characteristics are better suited to be described at the perceptual level (especially phonemic errors and prosody), others at the acoustic level (especially phonetic distortions, coarticulation, and prosody), and still others at the kinematic level (especially coarticulation, stability, and gestural coordination). The type of data collected determines, to a large extent, the interpretation that can be given regarding the underlying deficit. Comprehensive studies are needed that include more than 1 diagnostic feature and more than 1 type of measurement procedure.
Topics: Apraxias; Humans; Speech; Speech Production Measurement
PubMed: 31465704
DOI: 10.1044/2019_JSLHR-S-CSMC7-19-0214 -
JAMA Neurology Apr 2018Ataxia with oculomotor apraxia type 1 (AOA1) is an autosomal recessive cerebellar ataxia due to mutations in the aprataxin gene (APTX) that is characterized by...
IMPORTANCE
Ataxia with oculomotor apraxia type 1 (AOA1) is an autosomal recessive cerebellar ataxia due to mutations in the aprataxin gene (APTX) that is characterized by early-onset cerebellar ataxia, oculomotor apraxia, axonal motor neuropathy, and eventual decrease of albumin serum levels.
OBJECTIVES
To improve the clinical, biomarker, and molecular delineation of AOA1 and provide genotype-phenotype correlations.
DESIGN, SETTING, AND PARTICIPANTS
This retrospective analysis included the clinical, biological (especially regarding biomarkers of the disease), electrophysiologic, imaging, and molecular data of all patients consecutively diagnosed with AOA1 in a single genetics laboratory from January 1, 2002, through December 31, 2014. Data were analyzed from January 1, 2015, through January 31, 2016.
MAIN OUTCOMES AND MEASURES
The clinical, biological, and molecular spectrum of AOA1 and genotype-phenotype correlations.
RESULTS
The diagnosis of AOA1 was confirmed in 80 patients (46 men [58%] and 34 women [42%]; mean [SD] age at onset, 7.7 [7.4] years) from 51 families, including 57 new (with 8 new mutations) and 23 previously described patients. Elevated levels of α-fetoprotein (AFP) were found in 33 patients (41%); hypoalbuminemia, in 50 (63%). Median AFP level was higher in patients with AOA1 (6.0 ng/mL; range, 1.1-17.0 ng/mL) than in patients without ataxia (3.4 ng/mL; range, 0.8-17.2 ng/mL; P < .01). Decreased albumin levels (ρ = -0.532) and elevated AFP levels (ρ = 0.637) were correlated with disease duration. The p.Trp279* mutation, initially reported as restricted to the Portuguese founder haplotype, was discovered in 53 patients with AOA1 (66%) with broad white racial origins. Oculomotor apraxia was found in 49 patients (61%); polyneuropathy, in 74 (93%); and cerebellar atrophy, in 78 (98%). Oculomotor apraxia correlated with the severity of ataxia and mutation type, being more frequent with deletion or truncating mutations (83%) than with presence of at least 1 missense variant (17%; P < .01). Mean (SD) age at onset was higher for patients with at least 1 missense mutation (17.7 [11.4] vs 5.2 [2.6] years; P < .001).
CONCLUSIONS AND RELEVANCE
The AFP level, slightly elevated in a substantial fraction of patients, may constitute a new biomarker for AOA1. Oculomotor apraxia may be an optional finding in AOA1 and correlates with more severe disease. The p.Trp279* mutation is the most frequent APTX mutation in the white population. APTX missense mutations may be associated with a milder phenotype.
Topics: Adolescent; Adult; Apraxias; Ataxia; Cogan Syndrome; DNA-Binding Proteins; Disability Evaluation; Female; Genetic Association Studies; Humans; International Cooperation; Male; Middle Aged; Mutation; Nuclear Proteins; Retrospective Studies; TRPC Cation Channels; Young Adult; alpha-Fetoproteins
PubMed: 29356829
DOI: 10.1001/jamaneurol.2017.4373 -
Revue Neurologique Apr 2021
Topics: Apraxias; Humans; Hyperglycemia; Seizures
PubMed: 33272562
DOI: 10.1016/j.neurol.2020.08.007 -
Journal of Cognitive Neuroscience Oct 2022Recent evidence in healthy participants suggests that a motor subcomponent of working memory (mWM) may exist. We investigated whether this mWM is impaired in patients...
Recent evidence in healthy participants suggests that a motor subcomponent of working memory (mWM) may exist. We investigated whether this mWM is impaired in patients with a motor-dominant left hemisphere (LH) stroke and apraxia. Furthermore, we hypothesized that a deficient mWM contributes to deficits in motor cognition, that is, apraxia, in LH stroke. The study included 52 patients with LH stroke and 25 age-matched controls. Patients were classified into LH stroke patients with and without apraxia based on deficits in gesture imitation and object use. All participants were examined using the block span test (visuospatial WM), the digit span test (verbal WM), and a novel mWM task. In the latter, participants were presented with static pictures depicting three different actions: actions with objects, meaningless actions, and meaningful actions. In the mWM task, LH stroke patients with apraxia performed worse than age-matched controls. Notably, LH stroke patients with apraxia showed more pronounced mWM deficits than those without apraxia. These results remained significant even after controlling for visuospatial and verbal WM deficits. Regression analyses revealed that LH stroke patients' mWM deficits predicted deficits in imitation. Data provide neuropsychological evidence for a motor subsystem of WM and suggest that deficits in mWM contribute to the severity of apraxia in LH stroke patients.
Topics: Apraxias; Humans; Imitative Behavior; Memory, Short-Term; Neuropsychological Tests; Stroke
PubMed: 35900867
DOI: 10.1162/jocn_a_01893 -
Neurological Sciences : Official... Apr 2020The concept and the term of constructional apraxia have been proposed by Karl Kleist and described in his impressive book "Gehirnpathologie", published in 1934. However,...
The concept and the term of constructional apraxia have been proposed by Karl Kleist and described in his impressive book "Gehirnpathologie", published in 1934. However, the first ever paper under the heading of constructional apraxia was written by Hans Strauss, one of Kleist's pupils, and published in 1924. Nowadays, the term constructional apraxia is still in use to refer to all disorders observed in drawing and assembling activities; its assessment, performed as it was in early studies, is part of common practice in behavioral neurology and neuropsychology. Nonetheless, the concept and the neural underpinnings of constructional apraxia have been deeply revisited with respect to the original proposal. Modern studies demonstrated that drawing and assembling are based on very large and complex brain networks extending in both hemispheres, including the left angular gyrus (as hypothesized by Kleist) but well beyond the original ideas about localization of constructional apraxia. From a clinical point of view, constructional apraxia has poor localizing value but provides valuable diagnostic information for conditions of cognitive impairment.
Topics: Adult; Apraxias; History, 20th Century; Humans; Space Perception
PubMed: 31820324
DOI: 10.1007/s10072-019-04186-7 -
Neuropsychologia Aug 2021Recent studies show that limb apraxia is a quite frequent, yet often underdiagnosed, higher motor impairment following stroke. Because it adversely affects every-day...
Recent studies show that limb apraxia is a quite frequent, yet often underdiagnosed, higher motor impairment following stroke. Because it adversely affects every-day life and personal independence, successful rehabilitation of apraxia is essential for personal well-being. Nevertheless, evidence of long-term efficacy of training schemes and generalization to untrained actions is still scarce. One possible reason for the tendency of this neurological disorder to persist may be a deficit in planning, conceptualisation and storage of complex motor acts. This pilot study aims at investigating explicit motor learning in apractic stroke patients. In particular, we addressed the ability of apractic patients to learn and to retain new explicit sequential finger movements across 10 training sessions over a 3-week interval. Nine stroke patients with ideomotor apraxia in its chronic stage participated in a multi-session training regimen and were included in data analyses. Patients performed an explicit finger sequence learning task (MSLT - motor sequence learning task), which is a well-established paradigm to investigate motor learning and memory processes. Patients improved task performance in terms of speed and accuracy across sessions. Specifically, they showed a noticeable reduction in the mean time needed to perform a correct sequence and the number of erroneous sequences. We found also a trend for improved performance at the Goldenberg apraxia test protocol: "imitation of meaningless hand and finger gestures" relative to when assessed before the MSLT training. Patients with ideomotor apraxia demonstrated the ability to acquire and maintain a novel sequence of movements; and, this training was associated with hints towards improvement of apraxia symptoms.
Topics: Apraxia, Ideomotor; Apraxias; Gestures; Hand; Humans; Pilot Projects
PubMed: 34181927
DOI: 10.1016/j.neuropsychologia.2021.107921 -
Speech rate increase in primary progressive apraxia of speech and its cost on articulatory accuracy.Clinical Linguistics & Phonetics Oct 2022Impaired articulation (e.g., articulatory accuracy) and prosody (e.g., slow speech rate) are considered primary diagnostic criterions for apraxia of speech both in...
Impaired articulation (e.g., articulatory accuracy) and prosody (e.g., slow speech rate) are considered primary diagnostic criterions for apraxia of speech both in neurodegenerative and post-stroke contexts. The primary aim of this study was to investigate the ability of participants with primary progressive apraxia of speech (PPAOS), a neurodegenerative disease characterised by initially isolated progressive apraxia of speech, to increase speech rate and the interaction between articulatory accuracy and speech rate. The secondary aim was to investigate the effect of syllable frequency and structure on this interaction. Four speakers with PPAOS, and four sex- and age-matched healthy speakers (HS) read eight two-syllable words embedded two times in a ten-syllable carrier phrase. Syllable frequency and structure were manipulated for the first syllable of the target words and controlled for the second syllable. All sentences were produced at three different target speech rates (conditions): habitual, regular (five syllables/second), and fast (seven syllables/second). Prosodic measures for target words and sentences were computed based on acoustic analysis of speech rate. Articulatory measures for words and sentences were rated based on a perceptual assessment of articulatory accuracy. Results show slower speech rate and reduced articulatory accuracy in speakers with PPAOS compared to HS. Results suggest that speakers with PPAOS also have limited ability to increase their speech rate. Finally, results suggest that articulatory complexity influences speech rate but that the cost of speech rate increase on articulatory accuracy varies greatly across speakers with PPAOS and is not necessarily related to the extent of the increase when measured in a highly structured sentence production task. Theoretical and clinical implications of these findings are discussed.
Topics: Apraxias; Humans; Language; Neurodegenerative Diseases; Speech; Speech Production Measurement
PubMed: 34355627
DOI: 10.1080/02699206.2021.1960622 -
American Journal of Speech-language... Nov 2020Purpose This study continued Phase I investigation of a modified Phonomotor Treatment (PMT) Program on motor planning in two individuals with apraxia of speech (AOS) and...
Purpose This study continued Phase I investigation of a modified Phonomotor Treatment (PMT) Program on motor planning in two individuals with apraxia of speech (AOS) and aphasia and, with support from prior work, refined Phase I methodology for treatment intensity and duration, a measure of communicative participation, and the use of effect size benchmarks specific to AOS. Method A single-case experimental design with multiple baselines across behaviors and participants was used to examine acquisition, generalization, and maintenance of treatment effects 8-10 weeks posttreatment. Treatment was distributed 3 days a week, and duration of treatment was specific to each participant (criterion based). Experimental stimuli consisted of target sounds or clusters embedded nonwords and real words, specific to each participants' deficit. Results Findings show improved repetition accuracy for targets in trained nonwords, generalization to targets in untrained nonwords and real words, and maintenance of treatment effects at 10 weeks posttreatment for one participant and more variable outcomes for the other participant. Conclusions Results indicate that a modified version of PMT can promote generalization and maintenance of treatment gains for trained speech targets via a multimodal approach emphasizing repeated exposure and practice. While these results are promising, the frequent co-occurrence of AOS and aphasia warrants a treatment that addresses both motor planning and linguistic deficits. Thus, the application of traditional PMT with participant-specific modifications for AOS embedded into the treatment program may be a more effective approach. Future work will continue to examine and maximize improvements in motor planning, while also treating anomia in aphasia.
Topics: Anomia; Aphasia; Apraxias; Humans; Language Therapy; Speech
PubMed: 32997520
DOI: 10.1044/2020_AJSLP-19-00116 -
Cortex; a Journal Devoted To the Study... Sep 2021Limb apraxia, a disorder of skilled action not consequent on primary motor or sensory deficits, has traditionally been defined according to errors patients make on...
Limb apraxia, a disorder of skilled action not consequent on primary motor or sensory deficits, has traditionally been defined according to errors patients make on neuropsychological tasks. Previous models of the disorder have failed to provide a unified account of patients' deficits, due to heterogeneity in the patients and tasks used. In this study we hypothesised that we may be able to map apraxic deficits onto principal components, some of which may be specific, whilst others may align with other cognitive disorders. We implemented principal component analysis (PCA) to elucidate core factors of the disorder in a preliminary cohort of 41 unselected left hemisphere chronic stroke patients who were tested on a comprehensive and validated apraxia screen. Three principal components were identified: posture selection, semantic control and multi-demand sequencing. These were submitted to a lesion symptom mapping (VBCM) analysis in a subset of 24 patients, controlled for lesion volume, age and time post-stroke. The first component revealed no significant structural correlates. The second component was related to regions in inferior frontal gyrus, primary motor area, and adjacent parietal opercular (including inferior parietal and supramarginal gyrus) areas. The third component was associated with lesions within the white matter underlying the left sensorimotor cortex, likely involving the 2nd branch of the left superior longitudinal fasciculus as well as the posterior orbitofrontal cortex (pOFC). These results highlight a significant role of common cognitive functions in apraxia, which include action selection, and sequencing, whilst more specific deficits may relate to semantic control. Moreover, they suggest that previously described 'ideomotor' and 'ideational' deficits may have a common neural basis within semantic control. Further research using this technique would help elucidate the cognitive processes underlying limb apraxia, its neural correlates and their relationship with other cognitive disorders.
Topics: Apraxias; Humans; Magnetic Resonance Imaging; Motor Cortex; Neuropsychological Tests; Parietal Lobe; Semantics; Stroke
PubMed: 34271260
DOI: 10.1016/j.cortex.2021.04.019 -
Stroke Jan 2023Stroke is a leading cause of disability worldwide. Limb apraxia is a group of higher order motor disorders associated with greater disability and dependence after... (Review)
Review
Stroke is a leading cause of disability worldwide. Limb apraxia is a group of higher order motor disorders associated with greater disability and dependence after stroke. Original neuropsychology studies distinguished separate brain pathways involved in perception and action, known as the dual stream hypothesis. This framework has allowed a better understanding of the deficits identified in Limb Apraxia. In this review, we propose a hierarchical organization of this disorder, in which a distinction can be made between several visuomotor pathways that lead to purposeful actions. Based on this, executive apraxias (such as limb kinetic apraxia) cause deficits in executing fine motor hand skills, and intermediate apraxias (such as optic ataxia and tactile apraxia) cause deficits in reaching to grasp and manipulating objects in space. These disorders usually affect the contralesional limb. A further set of disorders collectively known as limb apraxias include deficits in gesture imitation, pantomime, gesture recognition, and object use. These deficits are due to deficits in integrating perceptual and semantic information to generate complex movements. Limb apraxias are usually caused by left-hemisphere lesions in right-handed stroke patients, affecting both limbs. The anterior- to posterior-axis of brain areas are disrupted depending on the increasing involvement of perceptual and semantic processes with each condition. Lower-level executive apraxias are linked to lesions in the frontal lobe and the basal ganglia, while intermediate apraxias are linked to lesions in dorso-dorsal subdivisions of the dorsal fronto-parietal networks. Limb apraxias can be caused by lesions in both dorsal and ventral subdivisions including the ventro-dorsal stream and a third visuomotor pathway, involved in body schema and social cognition. Rehabilitation of these disorders with behavioral therapies has aimed to either restore perceptuo-semantic deficits or compensate to overcome these deficits. Further studies are required to better stratify patients, using modern neurophysiology and neuroimaging techniques, to provide targeted and personalized therapies for these disorders in the future.
Topics: Humans; Semantics; Apraxias; Stroke; Brain; Hand
PubMed: 36542070
DOI: 10.1161/STROKEAHA.122.037948