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https://www.readbyqxmd.com/read/28079319/erratum-to-ataxia-with-oculomotor-apraxia-type-1-without-oculomotor-apraxia-a-case-report
#1
Minwoo Lee, Nan Young Kim, Jin Young Huh, Young Eun Kim, Yun Joong Kim
This corrects the article on p. 126 in vol. 12, PMID: 26541496.
January 2017: Journal of Clinical Neurology
https://www.readbyqxmd.com/read/28078966/visual-and-cross-modal-cues-increase-the-identification-of-overlapping-visual-stimuli-in-balint-s-syndrome
#2
Daniela D'Imperio, Michele Scandola, Valeria Gobbetto, Cristina Bulgarelli, Matteo Salgarello, Renato Avesani, Valentina Moro
INTRODUCTION: Cross-modal interactions improve the processing of external stimuli, particularly when an isolated sensory modality is impaired. When information from different modalities is integrated, object recognition is facilitated probably as a result of bottom-up and top-down processes. The aim of this study was to investigate the potential effects of cross-modal stimulation in a case of simultanagnosia. METHOD: We report a detailed analysis of clinical symptoms and an (18)F-fluorodeoxyglucose (FDG) brain positron emission tomography/computed tomography (PET/CT) study of a patient affected by Balint's syndrome, a rare and invasive visual-spatial disorder following bilateral parieto-occipital lesions...
January 12, 2017: Journal of Clinical and Experimental Neuropsychology
https://www.readbyqxmd.com/read/28074148/apraxia-of-speech-and-cerebellar-mutism-syndrome-a-case-report
#3
E De Witte, I Wilssens, D De Surgeloose, G Dua, M Moens, J Verhoeven, M Manto, P Mariën
BACKGROUND: Cerebellar mutism syndrome (CMS) or posterior fossa syndrome (PFS) consists of a constellation of neuropsychiatric, neuropsychological and neurogenic speech and language deficits. It is most commonly observed in children after posterior fossa tumor surgery. The most prominent feature of CMS is mutism, which generally starts after a few days after the operation, has a limited duration and is typically followed by motor speech deficits. However, the core speech disorder subserving CMS is still unclear...
2017: Cerebellum & Ataxias
https://www.readbyqxmd.com/read/28067549/exploring-visuospatial-abilities-and-their-contribution-to-constructional-abilities-and-nonverbal-intelligence
#4
Luigi Trojano, Mattia Siciliano, Chiara Cristinzio, Dario Grossi
The present study aimed at exploring relationships among the visuospatial tasks included in the Battery for Visuospatial Abilities (BVA), and at assessing the relative contribution of different facets of visuospatial processing on tests tapping constructional abilities and nonverbal abstract reasoning. One hundred forty-four healthy subjects with a normal score on Mini Mental State Examination completed the BVA plus Raven's Coloured Progressive Matrices and Constructional Apraxia test. We used Principal Axis Factoring and Parallel Analysis to investigate relationships among the BVA visuospatial tasks, and performed regression analyses to assess the visuospatial contribution to constructional abilities and nonverbal abstract reasoning...
January 9, 2017: Applied Neuropsychology. Adult
https://www.readbyqxmd.com/read/28003922/motor-speech-apraxia-in-a-70-year-old-man-with-left-dorsolateral-frontal-arachnoid-cyst-a-18-f-fdg-pet-ct-study
#5
Nicolaas I Bohnen, Jacob Haugen, Karen Kluin, Vikas Kotagal
Motor speech apraxia is a speech disorder of impaired syllable sequencing which, when seen with advancing age, is suggestive of a neurodegenerative process affecting cortical structures in the left frontal lobe. Arachnoid cysts can be associated with neurologic symptoms due to compression of underlying brain structures though indications for surgical intervention are unclear. We present the case of a 70-year-old man who presented with a two-year history of speech changes along with decreased initiation and talkativeness, shorter utterances, and dysnomia...
2016: Case Reports in Neurological Medicine
https://www.readbyqxmd.com/read/28002403/xrcc1-mutation-is-associated-with-parp1-hyperactivation-and-cerebellar-ataxia
#6
Nicolas C Hoch, Hana Hanzlikova, Stuart L Rulten, Martine Tétreault, Emilia Komulainen, Limei Ju, Peter Hornyak, Zhihong Zeng, William Gittens, Stephanie A Rey, Kevin Staras, Grazia M S Mancini, Peter J McKinnon, Zhao-Qi Wang, Justin D Wagner, Grace Yoon, Keith W Caldecott
XRCC1 is a molecular scaffold protein that assembles multi-protein complexes involved in DNA single-strand break repair. Here we show that biallelic mutations in the human XRCC1 gene are associated with ocular motor apraxia, axonal neuropathy, and progressive cerebellar ataxia. Cells from a patient with mutations in XRCC1 exhibited not only reduced rates of single-strand break repair but also elevated levels of protein ADP-ribosylation. This latter phenotype is recapitulated in a related syndrome caused by mutations in the XRCC1 partner protein PNKP and implicates hyperactivation of poly(ADP-ribose) polymerase/s as a cause of cerebellar ataxia...
January 5, 2017: Nature
https://www.readbyqxmd.com/read/28001274/language-behavior-and-neurodevelopment-in-joubert-syndrome-a-case-report
#7
Dionísia Aparecida Cusin Lamônica, Camila da Costa Ribeiro, Antonio Richieri-Costa, Célia Maria Giacheti
The Joubert syndrome (JS) is a rare, heterogeneous genetic condition among the ciliopathies. More than 20 genes have been identified associated with this phenotype. The main manifestations include hypotonia, ataxia, psychomotor retardation, ocular-motor apraxia and neonatal respiratory abnormalities. The objective of this paper was to present language and neurodevelopmental findings of an individual diagnosed with JS. The following procedures were performed: anamnesis, clinical genetic evaluation observation of communicative behavior, evaluation of language, the Denver Developmental Screening Test II (DDST-II) and the Early Language Milestone Scale (ELMS)...
November 2016: CoDAS
https://www.readbyqxmd.com/read/27997948/self-judgments-of-word-production-accuracy-in-acquired-apraxia-of-speech
#8
Julie Wambaugh, Linda Shuster, Dallin J Bailey, Shannon Mauszycki, Jacob Kean, Christina Nessler, Sandra Wright, Jessica Brunsvold
Purpose: The ability to recognize one's own speech errors has long been considered a clinical feature of acquired apraxia of speech (AOS) despite limited empirical data supporting this notion. This study was designed to (a) investigate the ability of speakers with AOS to self-judge the accuracy of their own word productions and (b) examine the test-retest stability of a measure to quantify the self-judgments of speakers with AOS. Method: Twenty-four speakers with AOS and aphasia repeated mono- and multisyllabic words...
December 1, 2016: American Journal of Speech-language Pathology
https://www.readbyqxmd.com/read/27997947/the-use-of-electropalatography-in-the-treatment-of-acquired-apraxia-of-speech
#9
Shannon C Mauszycki, Sandra Wright, Nicole Dingus, Julie L Wambaugh
Purpose: This investigation was designed to examine the effects of an articulatory-kinematic treatment in conjunction with visual biofeedback (VBFB) via electropalatography (EPG) on the accuracy of articulation for acquired apraxia of speech (AOS). Method: A multiple-baseline design across participants and behaviors was used with 4 individuals with chronic AOS and aphasia. Accuracy of target speech sounds in treated and untreated phrases in probe sessions served as the dependent variable...
December 1, 2016: American Journal of Speech-language Pathology
https://www.readbyqxmd.com/read/27997946/recovering-with-acquired-apraxia-of-speech-the-first-2-years
#10
Katarina L Haley, Jennifer N Shafer, Tyson G Harmon, Adam Jacks
Purpose: This study was intended to document speech recovery for 1 person with acquired apraxia of speech quantitatively and on the basis of her lived experience. Method: The second author sustained a traumatic brain injury that resulted in acquired apraxia of speech. Over a 2-year period, she documented her recovery through 22 video-recorded monologues. We analyzed these monologues using a combination of auditory perceptual, acoustic, and qualitative methods. Results: Recovery was evident for all quantitative variables examined...
December 1, 2016: American Journal of Speech-language Pathology
https://www.readbyqxmd.com/read/27990716/quantitative-measurement-of-communication-ability-in-children-with-angelman-syndrome
#11
Joseph C Grieco, Ruth H Bahr, Mike R Schoenberg, Laura Conover, Lauren N Mackie, Edwin J Weeber
BACKGROUND: Angelman syndrome is a rare disorder in which most individuals do not develop speech. Testing of communication ability using traditional neuropsychological measures reveals a performance level at or near the floor of the instrument resulting in an inability to detect change when experimental therapeutics are applied. METHODS: Nine individuals, with molecularly confirmed AS, ranging in age from 34 to 126 months, and a single healthy control child (age 16 months) were audio and video-recorded while interacting with a licensed speech-language pathologist in an attempt to elicit vocalization and non-verbal communication...
December 19, 2016: Journal of Applied Research in Intellectual Disabilities: JARID
https://www.readbyqxmd.com/read/27979842/rare-case-of-glioblastoma-multiforme-located-in-posterior-corpus-callosum-presenting-with-depressive-symptoms-and-visual-memory-deficits
#12
Hale Yapıcı-Eser, Aslıhan Onay, Özgür Öztop-Çakmak, Emrah Egemen, Ebru Nur Vanlı-Yavuz, İhsan Solaroğlu
Most of the primary brain tumours are located in the supratentorial region, and it is uncommon to see tumour growth on deep brain structures such as posterior corpus callosum (PCC). In addition, lesions in PCC are also difficult to recognise, because construction apraxia, visuospatial perception and attentional capacity impairment may be the only presenting symptoms. Here, we represent a rare case of gliobastoma multiforme located in PCC, which solely presents with depressive symptoms and visual memory deficits...
December 15, 2016: BMJ Case Reports
https://www.readbyqxmd.com/read/27965904/rituximab-associated-inflammatory-progressive-multifocal-leukoencephalopathy
#13
Chandra Punch, Christina Schofield, Penelope Harris
Progressive multifocal leukoencephalopathy (PML) is a rare disease of the immunosuppression that results from neurotropic invasion of the JC virus which leads to demyelination of oligodendrocytes. Immune reconstitution inflammatory syndrome (IRIS), on the other hand, is a condition of inflammation that develops as the immune system reconstitutes. This case report describes a case of a 35-year-old HIV-negative male who presented with three weeks of right lower extremity paresthesias as well as right upper extremity apraxia...
2016: Case Reports in Infectious Diseases
https://www.readbyqxmd.com/read/27960554/an-exploratory-study-of-the-influence-of-load-and-practice-on-segmental-and-articulatory-variability-in-children-with-speech-sound-disorders
#14
Janet Vuolo, Lisa Goffman
This exploratory treatment study used phonetic transcription and speech kinematics to examine changes in segmental and articulatory variability. Nine children, ages 4 to 8 years old, served as participants, including two with childhood apraxia of speech (CAS), five with speech sound disorder (SSD) and two who were typically developing. Children practised producing agent + action phrases in an imitation task (low linguistic load) and a retrieval task (high linguistic load) over five sessions. In the imitation task in session one, both participants with CAS showed high degrees of segmental and articulatory variability...
December 14, 2016: Clinical Linguistics & Phonetics
https://www.readbyqxmd.com/read/27959436/novel-cc2d2a-compound-heterozygous-mutations-cause-joubert-syndrome
#15
Daimin Xiao, Chunli Lv, Zhimin Zhang, Mingsong Wu, Xiang Zheng, Lei Yang, Xueying Li, Guan Wu, Jindong Chen
Joubert syndrome (JS) is an autosomal recessive disorder, which is characterized by hypotonia, ataxia, psychomotor delay, and variable occurrences of oculomotor apraxia and neonatal breathing abnormalities. JS is clinically and genetically heterogeneous. The present study investigated a typical JS family. The 'molar tooth sign' was observed in the proband through magnetic resonance imaging. Other symptoms of JS include cerebellar vermis hypoplasia/dysplasia, oculomotor apraxia and intellectual disability. High‑throughput sequencing revealed that JS was caused by coiled‑coil and C2 domain containing 2A (CC2D2A) compound heterozygous mutations...
January 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/27901517/ideomotor-limb-apraxia-as-a-staging-tool-in-individuals-with-alzheimer-s-disease-iliad
#16
William D Soulsby, Nezar El-Ruwie, Shravan Gatla, Katelyn Anderson Zimmer, Safa Najmi, Alexander Chen, John T Chibnall, George T Grossberg
BACKGROUND: Ideomotor apraxia (IMA) is known to affect individuals with Alzheimer's disease (AD). Combined with impaired cognitive function, IMA can support evidence of probable AD. However, apraxia is a condition that is difficult to diagnose. The Postural Knowledge Test (PKT), developed by Mozaz et al, was designed to easily identify limb apraxia in multiple sclerosis yet demonstrated potential utility for AD. ILIAD is a pilot study to investigate correlation between the PKT and Mini-Mental State Examination (MMSE)...
November 2016: Annals of Clinical Psychiatry: Official Journal of the American Academy of Clinical Psychiatrists
https://www.readbyqxmd.com/read/27895948/pediatric-balint-s-syndrome-variant-a-possible-diagnosis-in-children
#17
Swetha Sara Philip, Sunithi Elizabeth Mani, Gordon N Dutton
Balint's syndrome is well described in adults, but not in children. It is caused by bilateral posterior parietal lobe damage and comprises a triad of simultanagnosia (inability to simultaneously see more than a small number of items), optic ataxia (impaired visual guidance of movement of the limbs and body), and apraxia of gaze (inability to volitionally direct gaze despite the requisite motor substrate) often associated with homonymous lower visual field loss. We, here, describe five children (four males, one female; mean age 7...
2016: Case Reports in Ophthalmological Medicine
https://www.readbyqxmd.com/read/27882295/neuroanatomical-correlates-of-childhood-apraxia-of-speech-a-connectomic-approach
#18
Simona Fiori, Andrea Guzzetta, Jhimli Mitra, Kerstin Pannek, Rosa Pasquariello, Paola Cipriani, Michela Tosetti, Giovanni Cioni, Stephen E Rose, Anna Chilosi
Childhood apraxia of speech (CAS) is a paediatric speech sound disorder in which precision and consistency of speech movements are impaired. Most children with idiopathic CAS have normal structural brain MRI. We hypothesize that children with CAS have altered structural connectivity in speech/language networks compared to controls and that these altered connections are related to functional speech/language measures. Whole brain probabilistic tractography, using constrained spherical deconvolution, was performed for connectome generation in 17 children with CAS and 10 age-matched controls...
2016: NeuroImage: Clinical
https://www.readbyqxmd.com/read/27871202/corticobasal-syndrome-due-to-sporadic-creutzfeldt-jakob-disease-a-review-and-neuropsychological-case-report
#19
David Andrés González, Jason R Soble
OBJECTIVE: Creutzfeldt-Jakob disease (CJD) is a rare, rapidly progressive, and fatal neurodegenerative disease with neuropsychological sequelae. This study highlighted a rare presentation of CJD (e.g. corticobasal syndrome [CBS]), reviewed updated diagnostic criteria and procedures for CJD (e.g. diffusion weighted imaging [DWI], real-time quaking-induced conversion [RT-QuIC]), and discussed differential diagnoses. METHOD: Case report methodology focused on a 68-year-old, Hispanic, right-handed man with 11 years of education...
November 22, 2016: Clinical Neuropsychologist
https://www.readbyqxmd.com/read/27847706/reliability-and-validity-of-korean-version-of-apraxia-screen-of-tulia-k-ast
#20
Soo Jin Kim, You-Na Yang, Jong Won Lee, Jin-Youn Lee, Eunhwa Jeong, Bo-Ram Kim, Jongmin Lee
OBJECTIVE: To evaluate the reliability and validity of Korean version of AST (K-AST) as a bedside screening test of apraxia in patients with stroke for early and reliable detection. METHODS: AST was translated into Korean, and the translated version received authorization from the author of AST. The performances of K-AST in 26 patients (21 males, 5 females; mean age 65.42±17.31 years) with stroke (23 ischemic, 3 hemorrhagic) were videotaped. To test the reliability and validity of K-AST, the recorded performances were assessed by two physiatrists and two occupational therapists twice at a 1-week interval...
October 2016: Annals of Rehabilitation Medicine
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