-
Journal of Clinical and Experimental... Feb 2023To investigate the role and influence of apraxia regarding dementia severity in Alzheimer's disease (AD). In addition, to examine whether apraxia or its association to... (Review)
Review
INTRODUCTION
To investigate the role and influence of apraxia regarding dementia severity in Alzheimer's disease (AD). In addition, to examine whether apraxia or its association to dementia severity show distinct characteristics between typical and atypical variants of AD, that commonly include frontal, logopenic, posterior, and Down's syndrome variant.
METHOD
The search conducted on 4 December 2020 in the Cinahl, Ovid Medline, PsycArticles, PsycInfo, Scopus and Web of Science databases yielded 251 non-duplicate records published since 2000. Ten records examining the association between Clinical Dementia Rating (CDR) scores and apraxia in AD were included in the review.
RESULTS
Dementia severity was related to apraxia in AD, and the prevalence and severity of apraxia increased as dementia progressed. Constructional, ideomotor (imitation of meaningless gestures), orofacial, speech, gait, and total praxis, including constructional, ideomotor, and ideational praxis, tasks differentiated dementia severity in AD. In the atypical variants of AD apraxia occurred frequently but because of the small number of participants, no statistical analyses were available.
CONCLUSIONS
The results highlight the need for extensive assessment of AD severity, and praxis assessment throughout the disease course. Apraxia affects the independent functioning and communication of the patient, tool use, and the ability to perform activities of daily living. Apraxia occurs frequently in AD and other neurodegenerative diseases, and apraxia assessment has shown to differentiate AD from other neurodegenerative diseases, particularly frontotemporal dementia. Thus, apraxia assessment serves in recognizing the atypical variants of AD as well.
Topics: Humans; Alzheimer Disease; Activities of Daily Living; Neuropsychological Tests; Apraxias; Frontotemporal Dementia
PubMed: 37039061
DOI: 10.1080/13803395.2023.2199971 -
NeuroRehabilitation Jun 2016Apraxia and Action Disorganisation Syndrome are characterised by an inability to use tools and carry out ordered sequences of movements in the absence of motor or... (Review)
Review
BACKGROUND
Apraxia and Action Disorganisation Syndrome are characterised by an inability to use tools and carry out ordered sequences of movements in the absence of motor or sensory impairment. To date treatment for these complex but debilitating conditions has received little attention.
OBJECTIVES
To provide an overview of apraxia and action disorganisation syndrome and its treatment, providing a state of the art summary for practitioners including likely future therapeutic directions.
METHOD
Review of apraxia literature and treatment studies collated from internet searches involving MEDLINE, PubMed, PyscINFO and Google Scholar as well as the author's own catalogue.
RESULTS
Evidence for current restitution and compensatory approaches is critically reviewed, with limited evidence to date in support of either method. Strategy training is the most promising intervention type with no support for sensory and exploratory interventions, practice effects only for direct task-specific training, and modest support for gestural training.
CONCLUSIONS
Larger controlled studies are needed but evidence is sufficient to indicate certain approaches over others. Advances in assistive technology have not translated into mainstream therapy but future interventions are likely to require a model-based approach which embraces current technologies in order to provide a more accessible, effective and cost-efficient approach to rehabilitation.
Topics: Apraxias; Humans; Self-Help Devices
PubMed: 27314872
DOI: 10.3233/NRE-161348 -
Practical Neurology Dec 2017
Topics: Apraxias; Humans; Neurologic Examination; Neuropsychological Tests
PubMed: 28626022
DOI: 10.1136/practneurol-2016-001526 -
Movement Disorders : Official Journal... Jun 2022Ataxia with oculomotor apraxia (AOA) is characterized by early-onset cerebellar ataxia associated with oculomotor apraxia. AOA1, AOA2, AOA3, and AOA4 subtypes may...
BACKGROUND
Ataxia with oculomotor apraxia (AOA) is characterized by early-onset cerebellar ataxia associated with oculomotor apraxia. AOA1, AOA2, AOA3, and AOA4 subtypes may present pathogenic variants in APTX, SETX, PIK3R5, and PNKP genes, respectively. Mutations in XRCC1 have been found to cause autosomal recessive spinocerebellar ataxia-26 (SCAR26) now considered AOA5.
OBJECTIVES
To examine a cohort of Brazilians with autosomal recessive cerebellar ataxia plus oculomotor apraxia and determine the frequencies of AOA subtypes through genetic investigation.
METHODS
We evaluated clinical, biomarkers, electrophysiological, and radiological findings of 52 patients with AOA phenotype and performed a genetic panel including APTX, SETX, PIK3R5, PNKP, and XRCC1.
RESULTS
We found pathogenic variants in SETX (15 patients), PNKP (12), and APTX (5). No mutations in PIK3R5 or XRCC1 were identified.
CONCLUSIONS
AOA2 and AOA4 were the most common forms of AOA in Brazil. Mutations in PIK3R5 and XRCC1 were not part of this genetic spectrum. © 2022 International Parkinson and Movement Disorder Society.
Topics: Apraxias; Ataxia; Brazil; Cerebellar Ataxia; Cogan Syndrome; DNA Helicases; DNA Repair Enzymes; Humans; Multifunctional Enzymes; Mutation; Phosphotransferases (Alcohol Group Acceptor); RNA Helicases; X-ray Repair Cross Complementing Protein 1
PubMed: 35426160
DOI: 10.1002/mds.29015 -
Cortex; a Journal Devoted To the Study... Aug 2020To investigate the literature for frequencies, profiles and neural correlates of limb and face apraxias in frontotemporal dementia (FTD). (Review)
Review
PURPOSE
To investigate the literature for frequencies, profiles and neural correlates of limb and face apraxias in frontotemporal dementia (FTD).
METHOD
The search conducted in Ovid Medline, PsycINFO and Scopus yielded 487 non-duplicate records, and 43 were included in the final analysis.
RESULTS
Apraxias are evident in diverse forms in all clinical variants of FTD within the first four years of the disease. Face apraxia and productive limb apraxia co-occur in the behavioural and nonfluent variants. The logopenic variant resembles Alzheimer's disease in terms of pronounced parietal limb apraxia and absence of face apraxia. The semantic variant exhibits conceptual praxis deficits together with relatively preserved imitation skills. Concerning the genetic variants of FTD, productive limb apraxia is common among carriers of the progranulin gene mutation, and subtle gestural alterations have been documented among carriers of the chromosome 9 open reading frame 72 gene mutation before the expected disease onset. The data on neural correlations suggest that the breakdown of praxis results from bilateral cortical and subcortical damage in FTD and that Alzheimer-type pathology of the cerebrospinal fluid increases the severity of limb apraxia in all of the variants. Face apraxia correlates with degeneration of the medial and superior frontal cortices.
CONCLUSIONS
Each of the clinical variants of FTD exhibits a characteristic profile of apraxias that may support early differentiation between the variants and from Alzheimer's disease. However, the screening procedures developed for stroke populations seem insufficient, and a multifaceted assessment tool is needed. Although valid and practical tests already exist for dementia populations, a concise selection of test items that covers all of the critical domains is called for.
Topics: Alzheimer Disease; Apraxias; Frontotemporal Dementia; Heterozygote; Humans; Neuropsychological Tests; Pick Disease of the Brain
PubMed: 32418629
DOI: 10.1016/j.cortex.2020.03.023 -
Current Neurology and Neuroscience... Nov 2019This chapter focuses on limb apraxia, a cognitive-motor disorder of learned skilled movement, and the nature of the spatiotemporal errors that disrupt movement sequences. (Review)
Review
PURPOSE OF REVIEW
This chapter focuses on limb apraxia, a cognitive-motor disorder of learned skilled movement, and the nature of the spatiotemporal errors that disrupt movement sequences.
RECENT FINDINGS
A cognitive model that attempts to reconcile conceptual and preparatory aspects of the motor program with perceptual and kinematic features will be discussed. An update on the localization of the praxis network will be provided. In addition, a long-held view that limb apraxia does not have ecological relevance will be disputed in the context of studies that have shown that limb apraxia (i) is one of the most important predictors of increased caregiver burden and (ii) is associated with impaired activities of daily living in post-stroke patients. This review summarizes current screening tools and the few randomized clinical controlled treatment studies to date. Limb apraxia is underdiagnosed and very few therapeutic options are available. Cognitive process models should be used to inform future controlled multi-modal treatment strategies.
Topics: Activities of Daily Living; Apraxias; Humans; Models, Neurological
PubMed: 31713690
DOI: 10.1007/s11910-019-0989-9 -
Archives of Iranian Medicine Dec 2019Ataxia-telangiectasia is a multi-system disorder in which neurologic impairment and immune deficiency are observed. In the present study, patients with...
BACKGROUND
Ataxia-telangiectasia is a multi-system disorder in which neurologic impairment and immune deficiency are observed. In the present study, patients with ataxia-telangiectasia were followed to provide information regarding clinical and immunological features.
METHODS
We report a case series of 18 patients diagnosed with ataxia-telangiectasia, who were referred to a tertiary center of clinical immunology from 2008-2018. Clinical presentations, medical records and lab data were observed during this period with a mean follow-up time of 4.57 ± 2.66 years.
RESULTS
The mean age of the patients was 10.92 ± 3.24 years (11 females and 7 males). Thirteen patients (72.22%) were from families with consanguinity. Ataxia was the most common clinical feature, observed in 18 (100%) patients. The predominant clinical presentations were tremor and oculocutaneous telangiectasia, observed in 14 (77.8%) patients; dysarthria and oculomotor apraxia, observed in 13 (72.2%) patients. Infections were recorded in 12 (70.6%) patients. Decreased IgG level and IgA levels were observed in 5 (33.3%) and 6 (40.0%) patients, respectively. Decreased B-cell number and T-cell number were noted in 7 (46.67%) and 11 (73.33%) patients, respectively. Three (16.7%) patients were diagnosed with acute lymphoblastic leukemia and two of them expired subsequently.
CONCLUSION
Ataxia-telangiectasia is a progressive disease with no established therapy; so, it necessitates early diagnosis and follow-up of the patients. The presented clinical and immunological data in this study may help with diagnosis and management of the disease complications.
Topics: Adolescent; Apraxias; Ataxia Telangiectasia; Child; Child, Preschool; Cogan Syndrome; Disease Progression; Female; Humans; Male; Tremor
PubMed: 31823618
DOI: No ID Found -
Brain : a Journal of Neurology May 2024Progressive apraxia of speech (PAOS) is a neurodegenerative motor-speech disorder that most commonly arises from a four-repeat tauopathy. Recent studies have established...
Progressive apraxia of speech (PAOS) is a neurodegenerative motor-speech disorder that most commonly arises from a four-repeat tauopathy. Recent studies have established that progressive apraxia of speech is not a homogenous disease but rather there are distinct subtypes: the phonetic subtype is characterized by distorted sound substitutions, the prosodic subtype by slow and segmented speech and the mixed subtype by a combination of both but lack of predominance of either. There is some evidence that cross-sectional patterns of neurodegeneration differ across subtypes, although it is unknown whether longitudinal patterns of neurodegeneration differ. We examined longitudinal patterns of atrophy on MRI, hypometabolism on 18F-fluorodeoxyglucose-PET and tau uptake on flortaucipir-PET in a large cohort of subjects with PAOS that had been followed for many years. Ninety-one subjects with PAOS (51 phonetic, 40 prosodic) were recruited by the Neurodegenerative Research Group. Of these, 54 (27 phonetic, 27 prosodic) returned for annual follow-up, with up to seven longitudinal visits (total visits analysed = 217). Volumes, metabolism and flortaucipir uptake were measured for subcortical and cortical regions, for all scans. Bayesian hierarchical models were used to model longitudinal change across imaging modalities with PAOS subtypes being compared at baseline, 4 years from baseline, and in terms of rates of change. The phonetic group showed smaller volumes and worse metabolism in Broca's area and the striatum at baseline and after 4 years, and faster rates of change in these regions, compared with the prosodic group. There was also evidence of faster spread of hypometabolism and flortaucipir uptake into the temporal and parietal lobes in the phonetic group. In contrast, the prosodic group showed smaller cerebellar dentate, midbrain, substantia nigra and thalamus volumes at baseline and after 4 years, as well as faster rates of atrophy, than the phonetic group. Greater hypometabolism and flortaucipir uptake were also observed in the cerebellar dentate and substantia nigra in the prosodic group. Mixed findings were observed in the supplementary motor area and precentral cortex, with no clear differences observed across phonetic and prosodic groups. These findings support different patterns of disease spread in PAOS subtypes, with corticostriatal patterns in the phonetic subtype and brainstem and thalamic patterns in the prosodic subtype, providing insight into the pathophysiology and heterogeneity of PAOS.
Topics: Humans; Carbolines; Male; Female; Aged; Apraxias; Positron-Emission Tomography; Middle Aged; Longitudinal Studies; Magnetic Resonance Imaging; Brain; Atrophy; Fluorodeoxyglucose F18; Phonetics; Aged, 80 and over; tau Proteins
PubMed: 38217867
DOI: 10.1093/brain/awae016 -
Journal of Pediatric Ophthalmology and... 2022To systematically compare idiopathic and non-idiopathic ocular motor apraxia (OMA) in children.
PURPOSE
To systematically compare idiopathic and non-idiopathic ocular motor apraxia (OMA) in children.
METHODS
A retrospective chart review was conducted of all children (< 18 years) diagnosed as having OMA from 2010 to 2020. Demographics, clinical characteristics, and oculomotor outcomes were compared for children with idiopathic and non-idiopathic OMA.
RESULTS
Thirty-seven children were included, 17 (46%) with idiopathic OMA and 20 (54%) with non-idiopathic OMA. Among patients with non-idiopathic OMA, Joubert syndrome was the most frequent underlying diagnosis (30%). Strabismus (45% vs 12%, = .04), nystagmus (30% vs 0%, = .02), and vertical saccade involvement (25% vs 0%, = .049) were significantly more common in non-idiopathic than idiopathic OMA, respectively. Neuroimaging abnormalities (90% vs 18%, < .0001) and developmental delays (100% vs 59%, = .002) were also more frequent in non-idiopathic than idiopathic OMA, respectively. Endocrine disorders (most commonly growth hormone deficiency) were diagnosed in 12% and 20% of children with idiopathic and non-idiopathic OMA, respectively ( = .67). On survival curve analysis, improvement in OMA occurred faster and more frequently in children with idiopathic than non-idiopathic OMA (median time to improvement 56 vs 139 months, respectively, = .034).
CONCLUSIONS
Non-idiopathic OMA is associated with a higher rate of vertical saccade involvement, nystagmus, and developmental delays. These findings should prompt neuroimaging in children with OMA. Additionally, endocrine disorders may be more frequent in children with OMA than the general pediatric population. .
Topics: Apraxias; Child; Cogan Syndrome; Growth Hormone; Humans; Nystagmus, Pathologic; Ocular Motility Disorders; Retrospective Studies
PubMed: 35192381
DOI: 10.3928/01913913-20220106-01 -
Current Neurology and Neuroscience... Aug 2016Since the first studies on limb apraxia carried out by Hugo Liepmann more than a century ago, research interests focused on the way humans process manual gestures by... (Review)
Review
Since the first studies on limb apraxia carried out by Hugo Liepmann more than a century ago, research interests focused on the way humans process manual gestures by assessing gesture production after patients suffered neurologic deficits. Recent reviews centered their attention on deficits in gesture imitation or processing object-related gestures, namely pantomimes and transitive gestures, thereby neglecting communicative/intransitive gestures. This review will attempt to reconcile limb apraxia in its entirety. To this end, the existing cognitive models of praxis processing that have been designed to account for the complexity of this disorder will be taken into account, with an attempt to integrate in these models the latest findings in the studies of limb apraxia, in particular on meaningful gestures. Finally, this overview questions the very nature of limb apraxia when other cognitive deficits are observed.
Topics: Apraxias; Cognition; Extremities; Gestures; Humans; Memory, Short-Term; Social Behavior
PubMed: 27349561
DOI: 10.1007/s11910-016-0675-0