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Apraxia

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https://www.readbyqxmd.com/read/28647130/fever-induced-paroxysmal-weakness-and-encephalopathy-a-new-phenotype-of-atp1a3-mutation
#1
Sho T Yano, Kenneth Silver, Richard Young, Suzanne D DeBrosse, Roseànne S Ebel, Kathryn J Swoboda, Gyula Acsadi
BACKGROUND: We identified a group of patients with ATP1A3 mutations at residue 756 who display a new phenotype, distinct from alternating hemiplegia of childhood, rapid-onset dystonia-parkinsonism, and cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndromes. METHODS: Four patients with c.2267G>A (R756H) mutations from two families and two patients with c.2267G>T (R756L) mutations from one family are described and compared with the previously reported patients with mutations resulting in R756H and R756C protein variants...
April 29, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28633531/the-effectiveness-of-aided-augmented-input-techniques-for-persons-with-developmental-disabilities-a-systematic-review
#2
Anna A Allen, Ralf W Schlosser, Kristofer L Brock, Howard C Shane
When working with individuals with little or no functional speech, clinicians often recommend that communication partners use the client's augmentative and alternative communication (AAC) device when speaking to the client. This is broadly known as "augmented input" and is thought to enhance the client's learning of language form and content. The purpose of this systematic review was to determine the effects of augmented input on communication outcomes in persons with developmental disabilities and persons with childhood apraxia of speech who use aided AAC...
June 21, 2017: Augmentative and Alternative Communication: AAC
https://www.readbyqxmd.com/read/28632524/callosal-motor-impersistence-a-novel-disconnection-syndrome
#3
Hee Jin Kim, Dongyeop Kim, Da-Heen Won, Juhee Chin, Kwang Ho Lee, Sang Won Seo, Kenneth M Heilman, Duk L Na
Motor impersistence, an inability to sustain a certain position or movement, is a motor-intentional disorder, caused more often by right than left hemisphere lesions. Since the right hemisphere is dominant for mediating motor persistence, callosal lesions that disconnect the left hemisphere from the right may induce impersistence of the right upper and lower limbs. After an undiagnosed left callosal infarction, a 65-year-old right-handed man suddenly developed a transient loss of volitional movement of his left leg...
June 2017: Cognitive and Behavioral Neurology: Official Journal of the Society for Behavioral and Cognitive Neurology
https://www.readbyqxmd.com/read/28629634/-123-i-fp-cit-spect-imaging-in-blepharospasm
#4
M De Verdal, D Renard, L Collombier, G Castelnovo
INTRODUCTION: Blepharospasm is a focal dystonia characterized by involuntary cocontraction of the eyelid protractors, causing spasmodic closure of the eyelids. Apraxia of eyelid opening is caused by an inability to initiate lid opening without paralytic abnormality. Some studies suggest that patients with either pure blepharospasm or blepharospasm associated with apraxia of eyelid opening are more prone to developing Parkinson's disease. METHODS: In our study, (123)I-FP-CIT (DAT) SPECT was performed in 24 patients with either pure blepharospasm or blepharospasm associated with apraxia of eyelid opening and no signs of parkinsonism to identify dopaminergic dysfunction...
June 16, 2017: Revue Neurologique
https://www.readbyqxmd.com/read/28626022/apraxia-another-view
#5
EDITORIAL
Nick Miller
No abstract text is available yet for this article.
June 16, 2017: Practical Neurology
https://www.readbyqxmd.com/read/28606234/-efficacy-and-safety-of-cyclophosphamide-as-a-sequential-immunotherapy-drug-for-anti-n-methyl-d-aspartate-receptor-encephalitis-in-children
#6
Wei-Wen Zhu, Wei-Ping Liao, Yong-Hong Yi, Xing-Wang Song
OBJECTIVE: To evaluate the efficacy and safety of cyclophosphamide as a second-line drug in the treatment of children with anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis. METHODS: Six children with anti-NMDAR encephalitis, who showed poor response to steroids and intravenous immunoglobulin, were given cyclophosphamide as a second-line immunotherapy. Follow-up was performed to evaluate the efficacy and safety of cyclophosphamide. RESULTS: After first-line immunotherapy for 1-4 weeks, the six patients had reduced psychiatric symptoms, seizures, and involuntary movements; three patients had an improved level of consciousness and were able to make simple conversations...
June 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/28604212/joubert-syndrome
#7
Doreen Crawford, Annette Dearmun
Named after the French doctor who first described this rare neurological condition, Joubert syndrome is characterised by developmental delay, hypotonia, ataxia and oculomotor apraxia.
June 12, 2017: Nursing Children and Young People
https://www.readbyqxmd.com/read/28598840/neuropsychological-symptoms-in-sporadic-creutzfeldt-jakob-disease-patients-in-germany
#8
Anna Krasnianski, Geeske T Bohling, Uta Heinemann, Daniela Varges, Bettina Meissner, Walter J Schulz-Schaeffer, Andreas Reif, Inga Zerr
BACKGROUND: The polymorphism at codon 129 of the prion protein gene (PRNP) and the PrPSc types 1 and 2 belong to a molecular classification of sporadic Creutzfeldt-Jakob disease (sCJD) that correlates well with the clinical and neuropathological phenotype of sCJD. OBJECTIVE: The aim of the study was to perform the first detailed evaluation of neuropsychological deficits in a large group of definite sCJD patients with known molecular subtype. METHODS: We analyzed neuropsychological symptoms in a cohort of 248 sCJD patients with known M129 V polymorphism of PRNP and prion protein type...
June 8, 2017: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/28596202/persistent-lesion-hyperintensity-on-brain-diffusion-weighted-mri-is-an-early-sign-of-intravascular-lymphoma
#9
Takashi Kageyama, Haruo Yamanaka, Fumihiko Nakamura, Toshihiko Suenaga
A 63-year-old man presented with right-sided hemianopia and unsteady gait. Brain MRI revealed multiple hyperintense infarct-like lesions on diffusion-weighted images (DWI). Hyperintensity persisted in some of these lesions even after 6 weeks, although his symptoms were ameliorated then. The patient developed episodic dizziness and a transient event of apraxia at 18 weeks after the first episode. Brain MRI revealed additional hyperintense lesions on DWI, which persisted even after 7 weeks. Eventually, the patient manifested cauda equina syndrome 39 weeks after the first episode...
June 8, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28588873/a-72-year-old-with-eyelid-opening-apraxia-in-steele-richardson-olszewski-syndrome
#10
Ihtesham A Qureshi, Mohtashim A Qureshi, Alberto Maud
In our patient with Steele-Richardson-Olszewski syndrome presenting with apraxia of eyelid opening, there is a possibility to be readily confused with conditions presenting in similar pattern such as blepharospasm and eyelid ptosis. Therefore, it is essential to correlate the clinical findings with electromyographic recordings and dopamine transporter scan (DaT).
June 2017: Clinical Case Reports
https://www.readbyqxmd.com/read/28583455/brain-arteriovenous-malformations-located-in-premotor-cortex-surgical-outcomes-and-risk-factors-for-postoperative-neurological-deficits
#11
Yuming Jiao, Fuxin Lin, Jun Wu, Hao Li, Xin Chen, Zhicen Li, Ji Ma, Yong Cao, Shuo Wang, Jizong Zhao
OBJECT: The premotor cortex (PMC) is known to have a dual role in both movement and language processing. Nevertheless, surgical outcomes of premotor cortex BAVMs (PMC-BAVMs) have not been well-defined. The aim of this study was to determine the surgical outcomes and risk factors for neurological deficits (ND) after surgery in patients with PMC-BAVMs. METHODS: We retrospectively reviewed patients with PMC-BAVMs who underwent surgical resection of the nidus. All patients had undergone preoperative functional MRI (fMRI), diffusion tensor imaging (DTI), MRI, 3D time-of-flight MRA (3D TOF-MRA) and digital subtraction angiography (DSA)...
June 2, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28566184/unexpectedly-mild-phenotype-in-an-ataxic-family-with-a-two-base-deletion-in-the-aptx-gene
#12
Makito Hirano, Ryusuke Matsumura, Yusaku Nakamura, Kazumasa Saigoh, Hikaru Sakamoto, Shuichi Ueno, Hiroya Inoue, Susumu Kusunoki
INTRODUCTION: Early onset ataxia with ocular motor apraxia and hypoalbuminemia (EAOH)/ataxia with oculomotor apraxia 1 (AOA1) is an autosomal recessive disorder caused by mutations in the APTX gene. In contrast to the recent progress on the molecular mechanism of aprataxin in DNA repair, the genotype and phenotype correlation has not been fully established. A previous study demonstrated that patients with truncation mutations had earlier onset of disease than those with missense mutations METHODS: Genomic DNA analysis was performed in a consanguineous family with relatively late-onset EAOH/AOA1...
July 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28559834/favourable-outcome-in-a-33-year-old-female-with-acute-haemorrhagic-leukoencephalitis
#13
Waldo G Solis, Sophie E Waller, Angela K Harris, Ella Sugo, Mitchell A Hansen, Jeanette Lechner-Scott
BACKGROUND: Acute haemorrhagic leukoencephalitis (AHLE) is a rare and rapidly fatal disease of unknown aetiology. There is a paucity of literature on the presentation and management of this rare disease. CASE DESCRIPTION: We report the case of a 33-year-old female presenting with headache and left-sided apraxia. Imaging revealed a right-sided white matter lesion with extensive cytotoxic oedema. Pathology was suggestive of AHLE. She underwent an open excisional biopsy and was treated with high-dose corticosteroids...
January 2017: Case Reports in Neurology
https://www.readbyqxmd.com/read/28556262/the-test-of-time-a-history-of-clock-drawing
#14
REVIEW
Elias Hazan, Frances Frankenburg, Megan Brenkel, Kenneth Shulman
OBJECTIVE: The clock drawing test (CDT) has become one of the most widely used cognitive screening instruments in clinical and research settings. Its effectiveness, acceptability, and quick and easy administration have made it a staple for cognitive screening in dementia and a wide range of brain disorders. Despite a spike in popularity since the 1990s, its origins are relatively unknown. The goal of this review is to chronicle its saga and chart its usage over time. METHODS: PsycInfo, Medline, and PubMed literature searches were performed from earliest record to June 2016, in addition to manual cross-referencing of bibliographies, with a focus before 1990...
May 26, 2017: International Journal of Geriatric Psychiatry
https://www.readbyqxmd.com/read/28552035/novel-pnkp-mutation-in-siblings-with-ataxia-oculomotor-apraxia-type-4
#15
Nicoline Schiess, David S Zee, Khurram A Siddiqui, Miklos Szolics, Ayman W El-Hattab
The phenotypic and genetic spectrum of ataxia with oculomotor apraxia (AOA) disorders is rapidly evolving and new technologies such as genetic mapping using whole exome sequencing reveal subtle distinctions among the various subtypes. We report a novel PNKP mutation in two siblings with progressive ataxia, abnormal saccades, sensorimotor neuropathy and dystonia consistent with the AOA type 4 phenotype. Laboratory evaluation revealed hypoalbuminemia, hypercholesterolemia with elevated LDL, elevated IgE levels and normal α fetoprotein levels...
March 2017: Journal of Neurogenetics
https://www.readbyqxmd.com/read/28537208/coding-of-significant-comorbidities-and-complications-for-stroke-in-rehabilitation
#16
Joanne Murray, Rhonda Pfeiffer, Ingrid Scholten
Background Comorbidities and complications of stroke have implications for level of care and hospital resources. It is critical, therefore, that hospital morbidity data accurately reflect the prevalence of these additional diagnoses. Objective This study aimed to measure and describe the concordance between stroke clinicians/researchers and medical record coders when recording stroke and related diagnoses. Method Diagnoses recorded prospectively, according to defined criteria by a clinical research team, were compared with the coding of stroke comorbidities and complications as per the Australian Coding Standards (ACS) from the separations of 100 inpatients from three rehabilitation facilities in South Australia...
January 1, 2017: HIM Journal
https://www.readbyqxmd.com/read/28534689/parent-experiences-of-variations-in-service-delivery-of-rapid-syllable-transition-rest-treatment-for-childhood-apraxia-of-speech
#17
Donna C Thomas, Patricia McCabe, Kirrie J Ballard, Geraldine Bricker-Katz
PURPOSE: To understand parents' perceptions of Rapid Syllable Transition (ReST) treatment and their experience of either telehealth or combined parent-clinician delivery of speech-language pathology. METHOD: Thematic analyses of semi-structured interviews were conducted with 10 parents (5 telehealth, 5 parent-clinician) after their child completed 12 sessions of ReST treatment. RESULTS: Three themes were unique to telehealth: "telehealth was a million times easier," "technical problems weren't deal breakers," and "telehealth therapy has different boundaries...
May 23, 2017: Developmental Neurorehabilitation
https://www.readbyqxmd.com/read/28484905/historical-perspectives-on-ancient-greek-derived-a-prefixed-nomenclature-for-acquired-neurocognitive-impairment
#18
REVIEW
Philip Gerard Gasquoine
Distinct forms of acquired neurocognitive impairment are often described by "a" prefixed terms that derive from ancient Greek (and in one case Latin). Two modern English language neurological and neuropsychological reference books were searched to identify 17 such terms in contemporary usage: amnesia, akinesia, ataxia, aphasia, agraphia, anosmia, apraxia, athetosis, ageusia, achromatopsia, agnosia, alexia, amusia, anomia, anarthria, anosognosia, and acalculia. These were traced to their initial association with acquired neurocognitive impairment in German, English, and French language medical publications from the late 18th, 19th, and early 20th centuries (1770 through 1920)...
May 8, 2017: Neuropsychology Review
https://www.readbyqxmd.com/read/28476095/effect-of-transcranial-direct-current-stimulation-on-swallowing-apraxia-and-cortical-excitability-in-stroke-patients
#19
Ying Yuan, Jie Wang, Dongyu Wu, Xiaobo Huang, Weiqun Song
BACKGROUND: Swallowing apraxia is characterized by impaired volitional swallowing but relatively preserved reflexive swallowing. Few studies are available on the effectiveness of behavioral therapy and management of the condition. OBJECTIVE: This study aimed to investigate the effect of transcranial direct current stimulation (tDCS) on swallowing apraxia and cortical activation in stroke patients. METHODS: The study included three inpatients (age 48-70 years; 1 male, 2 females; duration of stroke, 35-55 d) with post-stroke swallowing apraxia and six age-matched healthy subjects (age 45-65 years; 3 males, 3 females)...
May 5, 2017: Topics in Stroke Rehabilitation
https://www.readbyqxmd.com/read/28460270/demonstrating-treatment-efficacy-using-the-single-subject-randomization-design-a-tutorial-and-demonstration
#20
Susan Rvachew, Tanya Matthews
Single case research refers to the broader category of research designs in which each case serves as his or her own control. A single subject randomization design is a specific form in which sessions are randomly allocated to treatment conditions within subjects. Two tutorials on the application of these designs are provided. In the single subject randomized phase design, baseline probes are administered repeatedly during a no-treatment or usual care phase; subsequently probes are administered repeatedly during the treatment phase of the experiment; the starting point for the treatment phase is determined by random selection...
April 22, 2017: Journal of Communication Disorders
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