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Apraxia

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https://www.readbyqxmd.com/read/29140533/come-together-human-avatar-on-line-interactions-boost-joint-action-performance-in-apraxic-patients
#1
Matteo Candidi, Lucia M Sacheli, Vanessa Era, Loredana Canzano, Gaetano Tieri, Salvatore M Aglioti
Limb apraxia (LA) is a high-order motor disorder linked to left-hemisphere damage. It is characterized by defective execution of purposeful actions upon delayed imitation, or verbal command when the actions are performed in isolated, non-naturalistic, conditions. Whether interpersonal interactions provide social affordances that activate neural resources different from those requested by individual action execution, which may improve LA performance, is unknown. To fill this gap, we measured interaction performance, behavioral and kinematic indexes of left-brain damaged patients with/without LA in a social reach-to-grasp task involving two different degrees of spatio-temporal interactivity with an avatar...
November 1, 2017: Social Cognitive and Affective Neuroscience
https://www.readbyqxmd.com/read/29138705/physiotherapy-and-rehabilitation-in-a-child-with-joubert-syndrome
#2
Özge İpek, Özge Akyolcu, Banu Bayar
Objective: Joubert syndrome (JS) is a rare autosomal recessive genetic disorder characterized by brain malformation, hypotonia, breathing abnormalities, ataxia, oculomotor apraxia, and developmental delay. The purpose of this study was to report the efficiency of the physiotherapy and rehabilitation program in a child with JS. Materials and Methods: Our case is a 19-month-old female child with mild clinical signs of JS. The pretreatment and posttreatment motor functioning level of the case was evaluated through the Gross Motor Function Measure (GMFM), whereas the independence level was evaluated through the Pediatric Functional Independence Measure (WeeFIM)...
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/29127364/comparing-ataxias-with-oculomotor-apraxia-a-multimodal-study-of-aoa1-aoa2-and-at-focusing-on-video-oculography-and-alpha-fetoprotein
#3
L L Mariani, S Rivaud-Péchoux, P Charles, C Ewenczyk, A Meneret, B B Monga, M-C Fleury, E Hainque, T Maisonobe, B Degos, A Echaniz-Laguna, M Renaud, T Wirth, D Grabli, A Brice, M Vidailhet, D Stoppa-Lyonnet, C Dubois-d'Enghien, I Le Ber, M Koenig, E Roze, C Tranchant, A Durr, B Gaymard, M Anheim
Whether the recessive ataxias, Ataxia with oculomotor apraxia type 1 (AOA1) and 2 (AOA2) and Ataxia telangiectasia (AT), can be distinguished by video-oculography and alpha-fetoprotein level remains unknown. We compared 40 patients with AOA1, AOA2 and AT, consecutively referred between 2008 and 2015 with 17 healthy subjects. Video-oculography revealed constant impairments in patients such as cerebellar signs, altered fixation, impaired pursuit, hypometric saccades and abnormal antisaccades. Horizontal saccade latencies could be highly increased reflecting oculomotor apraxia in one third of patients...
November 10, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29114768/the-effect-of-hand-gesture-cues-within-the-treatment-of-r-for-a-college-aged-adult-with-persisting-childhood-apraxia-of-speech
#4
Heather Leavy Rusiewicz, Jessica Lynch Rivera
Purpose: Despite the widespread use of hand movements as visual and kinesthetic cues to facilitate accurate speech produced by individuals with speech sound disorders (SSDs), no experimental investigation of gestural cues that mimic that spatiotemporal parameters of speech sounds (e.g., holding fingers and thumb together and "popping" them to cue /p/) currently exists. The purpose of this study was to examine the effectiveness of manual mimicry cues within a multisensory intervention of persisting childhood apraxia of speech (CAS)...
November 8, 2017: American Journal of Speech-language Pathology
https://www.readbyqxmd.com/read/29107706/effects-of-transcranial-direct-current-stimulation-over-the-supplementary-motor-area-body-weight-supported-treadmill-gait-training-in-hemiparetic-patients-after-stroke
#5
Atsushi Manji, Kazu Amimoto, Tadamitsu Matsuda, Yoshiaki Wada, Akira Inaba, Sangkyun Ko
Transcranial direct current stimulation (tDCS) is used in a variety of disorders after stroke including upper limb motor dysfunctions, hemispatial neglect, aphasia, and apraxia, and its effectiveness has been demonstrated. Although gait ability is important for daily living, there were few reports of the use of tDCS to improve balance and gait ability. The supplementary motor area (SMA) was reported to play a potentially important role in balance recovery after stroke. We aimed to investigate the effect of combined therapy body weight-supported treadmill training (BWSTT) and tDCS on gait function recovery of stroke patients...
October 28, 2017: Neuroscience Letters
https://www.readbyqxmd.com/read/29099286/fdg-pet-in-creutzfeldt-jakob-disease-analysis-of-clinical-pet-correlation
#6
Dimitri Renard, Giovanni Castelnovo, Laurent Collombier, Eric Thouvenot, Vincent Boudousq
OBJECTIVE: To assess the relationship between clinical pattern and cerebral glucose metabolism on [18F]fluoro-2-deoxy-D-glucose positron emission tomography (FDG-PET) in Creutzfeldt-Jakob disease (CJD). METHODS: Predefined clinical signs (ataxia, visual, pyramidal, myoclonus, limb apraxia, limb dystonia, sensory, parkinsonism, and corticobasal syndrome [CBS]) and FDG-PET data were assessed in consecutive CJD patients. Two types of statistical parametric mapping (SPM) analyses, using stringent level of significance p<0...
November 3, 2017: Prion
https://www.readbyqxmd.com/read/29093069/predicting-clinical-decline-in-progressive-agrammatic-aphasia-and-apraxia-of-speech
#7
Jennifer L Whitwell, Stephen D Weigand, Joseph R Duffy, Heather M Clark, Edythe A Strand, Mary M Machulda, Anthony J Spychalla, Matthew L Senjem, Clifford R Jack, Keith A Josephs
OBJECTIVE: To determine whether baseline clinical and MRI features predict rate of clinical decline in patients with progressive apraxia of speech (AOS). METHODS: Thirty-four patients with progressive AOS, with AOS either in isolation or in the presence of agrammatic aphasia, were followed up longitudinally for up to 4 visits, with clinical testing and MRI at each visit. Linear mixed-effects regression models including all visits (n = 94) were used to assess baseline clinical and MRI variables that predict rate of worsening of aphasia, motor speech, parkinsonism, and behavior...
November 1, 2017: Neurology
https://www.readbyqxmd.com/read/29057628/apraxia-review-and-update
#8
REVIEW
Jung E Park
Praxis, the ability to perform skilled or learned movements is essential for daily living. Inability to perform such praxis movements is defined as apraxia. Apraxia can be further classified into subtypes such as ideomotor, ideational and limb-kinetic apraxia. Relevant brain regions have been found to include the motor, premotor, temporal and parietal cortices. Apraxia is found in a variety of highly prevalent neurological disorders including dementia, stroke and Parkinsonism. Furthermore, apraxia has been shown to negatively affect quality of life...
October 2017: Journal of Clinical Neurology
https://www.readbyqxmd.com/read/29052317/defective-ciliogenesis-in-inpp5e-related-joubert-syndrome
#9
Isabel Hardee, Ariane Soldatos, Mariska Davids, Thierry Vilboux, Camilo Toro, Karen L David, Carlos R Ferreira, Michele Nehrebecky, Joseph Snow, Audrey Thurm, Theo Heller, Ellen F Macnamara, Meral Gunay-Aygun, Wadih M Zein, William A Gahl, May Christine V Malicdan
Joubert syndrome is a neurodevelopmental disorder, characterized by malformation of the mid and hindbrain leading to the pathognomonic molar tooth appearance of the brainstem and cerebellum on axial MRI. Core clinical manifestations include hypotonia, tachypnea/apnea, ataxia, ocular motor apraxia, and developmental delay of varying degrees. In addition, a subset of patients has retinal dystrophy, chorioretinal colobomas, hepatorenal fibrocystic disease, and polydactyly. Joubert syndrome exhibits genetic heterogeneity, with mutations identified in more than 30 genes, including INPP5E, a gene encoding inositol polyphosphate 5-phosphatase E, which is important in the development and stability of the primary cilium...
December 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29051910/cednik-phenotypic-and-molecular-characterization-of-an-additional-patient-and-review-of-the-literature
#10
Tina Hsu, Carrie C Coughlin, Kristin G Monaghan, Elise Fiala, Robert C McKinstry, Alex R Paciorkowski, Marwan Shinawi
Synaptosomal-associated protein 29 (SNAP29) is a t-SNARE protein that is implicated in intracellular vesicle fusion. Mutations in the SNAP29 gene have been associated with cerebral dysgenesis, neuropathy, ichthyosis, and keratoderma syndrome (CEDNIK). In patients with 22q11.2 deletion syndrome, mutations in SNAP29 on the nondeleted chromosome are linked to similar ichthyotic and neurological phenotypes. Here, the authors report a patient with cerebral dysgenesis, neuropathy, ichthyosis, and keratoderma syndrome who presented with global developmental delay, polymicrogyria, dysgenesis of the corpus callosum, optic nerve dysplasia, gaze apraxia, and dysmorphic features...
January 2017: Child neurology open
https://www.readbyqxmd.com/read/28988185/longer-term-needs-of-stroke-survivors-with-communication-difficulties-living-in-the-community-a-systematic-review-and-thematic-synthesis-of-qualitative-studies
#11
Faye Wray, David Clarke
OBJECTIVE: To review and synthesise qualitative literature relating to the longer-term needs of community dwelling stroke survivors with communication difficulties including aphasia, dysarthria and apraxia of speech. DESIGN: Systematic review and thematic synthesis. METHOD: We included studies employing qualitative methodology which focused on the perceived or expressed needs, views or experiences of stroke survivors with communication difficulties in relation to the day-to-day management of their condition following hospital discharge...
October 6, 2017: BMJ Open
https://www.readbyqxmd.com/read/28987904/bilateral-parietal-activations-for-complex-visual-spatial-functions-evidence-from-a-visual-spatial-construction-task
#12
Anna Seydell-Greenwald, Katrina Ferrara, Catherine E Chambers, Elissa L Newport, Barbara Landau
In this paper, we examine brain lateralization patterns for a complex visual-spatial task commonly used to assess general spatial abilities. Although spatial abilities have classically been ascribed to the right hemisphere, evidence suggests that at least some tasks may be strongly bilateral. For example, while functional neuroimaging studies show right-lateralized activations for some spatial tasks (e.g., line bisection), bilateral activations are often reported for others, including classic spatial tasks such as mental rotation...
October 4, 2017: Neuropsychologia
https://www.readbyqxmd.com/read/28960836/bcl11a-frameshift-mutation-associated-with-dyspraxia-and-hypotonia-affecting-the-fine-gross-oral-and-speech-motor-systems
#13
Julie Soblet, Ivan Dimov, Clemens Graf von Kalckreuth, Julie Cano-Chervel, Simon Baijot, Karin Pelc, Martine Sottiaux, Catheline Vilain, Guillaume Smits, Nicolas Deconinck
We report the case of a 7-year-old male of Western European origin presenting with moderate intellectual disability, severe childhood apraxia of speech in the presence of oral and manual dyspraxia, and hypotonia across motor systems including the oral and speech motor systems. Exome sequencing revealed a de novo frameshift protein truncating mutation in the fourth exon of BCL11A, a gene recently demonstrated as being involved in cognition and language development. Making parallels with a previously described patient with a 200 kb 2p15p16...
September 27, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28933620/sequential-processing-deficit-as-a-shared-persisting-biomarker-in-dyslexia-and-childhood-apraxia-of-speech
#14
Beate Peter, Hope Lancaster, Caitlin Vose, Kyle Middleton, Carol Stoel-Gammon
The purpose of this study was to investigate the hypothesis that individuals with dyslexia and individuals with childhood apraxia of speech share an underlying persisting deficit in processing sequential information. Levels of impairment (sensory encoding, memory, retrieval, and motor planning/programming) were also investigated. Participants were 22 adults with dyslexia, 10 adults with a probable history of childhood apraxia of speech (phCAS), and 22 typical controls. All participants completed nonword repetition, multisyllabic real word repetition, and nonword decoding tasks...
September 21, 2017: Clinical Linguistics & Phonetics
https://www.readbyqxmd.com/read/28933571/the-role-of-short-term-memory-impairment-in-nonword-repetition-real-word-repetition-and-nonword-decoding-a-case-study
#15
Beate Peter
In a companion study, adults with dyslexia and adults with a probable history of childhood apraxia of speech showed evidence of difficulty with processing sequential information during nonword repetition, multisyllabic real word repetition and nonword decoding. Results suggested that some errors arose in visual encoding during nonword reading, all levels of processing but especially short-term memory storage/retrieval during nonword repetition, and motor planning and programming during complex real word repetition...
September 21, 2017: Clinical Linguistics & Phonetics
https://www.readbyqxmd.com/read/28923025/intrafamilial-phenotypic-heterogeneity-in-a-taiwanese-family-with-a-mapt-p-r5h-mutation-a-case-report-and-literature-review
#16
Hui-Chi Lin, Chin-Hsien Lin, Pei-Lung Chen, Shih-Jung Cheng, Pei-Hao Chen
BACKGROUND: Frontotemporal degeneration (FTD) is a clinically and genetically heterogeneous neurodegenerative disorder characterized by deficits in executive function that frequently overlaps with parkinsonism and motor neuron disorders. Several genes have been identified to cause autosomal dominant forms of FTD, including the gene coding for the protein associated with microtubule tau (MAPT). While most reported pathogenic mutations in MAPT occur in exons 9-13, few families have been reported with mutations outside of this region...
September 18, 2017: BMC Neurology
https://www.readbyqxmd.com/read/28915852/a-novel-frameshift-grn-mutation-results-in-frontotemporal-lobar-degeneration-with-a-distinct-clinical-phenotype-in-two-siblings-case-report-and-literature-review
#17
Takashi Hosaka, Kazuhiro Ishii, Takeshi Miura, Naomi Mezaki, Kensaku Kasuga, Takeshi Ikeuchi, Akira Tamaoka
BACKGROUND: Progranulin gene (GRN) mutations are major causes of frontotemporal lobar degeneration. To date, 68 pathogenic GRN mutations have been identified. However, very few of these mutations have been reported in Asians. Moreover, some GRN mutations manifest with familial phenotypic heterogeneity. Here, we present a novel GRN mutation resulting in frontotemporal lobar degeneration with a distinct clinical phenotype, and we review reports of GRN mutations associated with familial phenotypic heterogeneity...
September 15, 2017: BMC Neurology
https://www.readbyqxmd.com/read/28914137/comparing-phoneme-frequency-age-of-acquisition-and-loss-in-aphasia-implications-for-phonological-universals
#18
Cristina Romani, Claudia Galuzzi, Cecilia Guariglia, Jeremy Goslin
Phonological complexity may be central to the nature of human language. It may shape the distribution of phonemes and phoneme sequences within languages, but also determine age of acquisition and susceptibility to loss in aphasia. We evaluated this claim using frequency statistics derived from a corpus of phonologically transcribed Italian words (phonitalia, available at phonitalia,org), rankings of phoneme age of acquisition (AoA) and rate of phoneme errors in patients with apraxia of speech (AoS) as an indication of articulatory complexity...
September 15, 2017: Cognitive Neuropsychology
https://www.readbyqxmd.com/read/28911995/ocular-dysfunctions-presenting-in-tacrolimus-induced-posterior-reversible-encephalopathy-syndrome-a-case-presentation
#19
Cora Brown, Alexander J Feng, Ernesto Cruz
The constellation of ocular symptoms known as Balint syndrome is a rare disorder seen in bilateral parieto-occipital lesions and is most frequently due to arterial occlusive disease or acute hypertension. Here we present the case of a patient with tacrolimus-induced posterior reversible encephalopathy syndrome (PRES) who presented with optic ataxia, simultanagnosia, and ocular apraxia. These ocular findings, consistent with Balint syndrome, are rarely the initial presentation of PRES. This case highlights the importance of early recognition of this unusual phenomenon, as well as the importance of an individualized rehabilitation plan to maximize functional independence in these patients...
September 12, 2017: PM & R: the Journal of Injury, Function, and Rehabilitation
https://www.readbyqxmd.com/read/28898322/-new-mutation-in-atm-gen-in-patient-whith-ataxia-telangiectasia-clinical-case
#20
Felipe Ruiz-Botero, Juliet T Rodríguez-Guerrero
INTRODUCTION: The ataxia telangiectasia syndrome (AT) is a genetic disease with an autosomal recessive inheritance pattern, with multisystem involvement and a broad clinical spectrum. It is caused by the mutation of the ATM gene, causing reduction or absence of the ATM proteinkinase, altering processes in the cell cycle, DNA repair and apoptosis. The objective of this article is to report the case of a patient with ataxia telangiectasia syndrome, caused by a mutation not previously reported in the literature...
2017: Revista Chilena de Pediatría
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