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https://www.readbyqxmd.com/read/28813817/the-effects-of-silent-visuomotor-cueing-on-word-retrieval-in-broca-s-aphasies-a-pilot-study
#1
Klaudia Grechuta, Belen Rubio Bellaster, Rosa Espin Munne, Teresa Usabiaga Bernal, Begona Molina Hervas, Rosa San Segundo, Paul F M J Verschure
About a quarter of stroke patients worldwide suffer serious language disorders such as aphasias. Most common symptoms of Broca's aphasia are word naming disorders which highly impact verbal communication and the quality of life of aphasic patients. In order to recover disturbances in word retrieval, several cueing methods (i.e. phonemic and semantic) have been established to improve lexical access establishing effective language rehabilitation techniques. Based on recent evidence from action-perception theories, which postulate that neural circuits for speech perception and articulation are tightly coupled, in the present work, we propose and investigate an alternative type of cueing using silent articulation-related visual stimuli...
July 2017: IEEE ... International Conference on Rehabilitation Robotics: [proceedings]
https://www.readbyqxmd.com/read/28811813/osteonecrosis-in-the-both-femoral-heads-in-a-patient-with-neuro-behcet-s-disease
#2
Asuman Orhan Varoglu, Asude Aksoy
Neuro-Behçet's disease (NBD) is a rare clinical entity that frequently presents neuro-psychiatric symptoms, and mesodiencephalic and pontobulbar lesions. There is only one published report about osteonecrosis in NBD. We report a patient whose first presentation was neurological NBD with presenting bilateral femoral heads osteonecrosis. A 36-year-old male was hospitalized with gait disorder, diplopia and speech disorder. The past medical history of the patient was unremarkable. The MR image showed mesencephalic lesion with oedemaas a hyperintense area...
May 2017: Pakistan Journal of Medical Sciences Quarterly
https://www.readbyqxmd.com/read/28809019/lentiviral-mediated-transgenesis-in-songbirds
#3
Wan-Chun Liu, Marian Hruska-Plochan, Atsushi Miyanohara
Transgenesis involves the insertion of an exogenous gene into an animal's genome, which allows the identification of the expressed phenotypes in brain function or behavior. Lentiviral-mediated transgenesis offers unique transduction potency making it possible to deliver and stably integrate transgenes into a wide variety of dividing and nondividing cells. The ability to establish long-term expression of such transgenes allows their use for transgenesis which is especially useful in organisms lacking quality pluripotent stem cell lines and which is otherwise difficult to produce via traditional pronuclear microinjection, such as songbirds...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28807762/diagnostic-exome-sequencing-identifies-a-heterozygous-mbd5-frameshift-mutation-in-a-family-with-intellectual-disability-and-epilepsy
#4
Ji Yoon Han, In Goo Lee, Woori Jang, Myungshin Kim, Yonggoo Kim, Ja Hyun Jang, Joonhong Park
Methyl-CpG-binding domain 5 (MBD5)-associated neurodevelopmental disorder caused by 2q23.1 or MBD5-specific mutation has been recently identified as a genetic disorder associated with autism spectrum disorders. Phenotypic features of 2q23.1 deletion or disruption of MBD5 gene include severe intellectual disability, seizure, significant speech impairment, sleep disturbance, and autistic-like behavioural problems. Here we report a 7-year-old girl with intellectual disability and epilepsy without previous clinical diagnosis...
August 11, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28803710/intrathecal-2-hydroxypropyl-%C3%AE-cyclodextrin-decreases-neurological-disease-progression-in-niemann-pick-disease-type-c1-a-non-randomised-open-label-phase-1-2-trial
#5
Daniel S Ory, Elizabeth A Ottinger, Nicole Yanjanin Farhat, Kelly A King, Xuntian Jiang, Lisa Weissfeld, Elizabeth Berry-Kravis, Cristin D Davidson, Simona Bianconi, Lee Ann Keener, Ravichandran Rao, Ariane Soldatos, Rohini Sidhu, Kimberly A Walters, Xin Xu, Audrey Thurm, Beth Solomon, William J Pavan, Bernardus N Machielse, Mark Kao, Steven A Silber, John C McKew, Carmen C Brewer, Charles H Vite, Steven U Walkley, Christopher P Austin, Forbes D Porter
BACKGROUND: Niemann-Pick disease, type C1 (NPC1) is a lysosomal storage disorder characterised by progressive neurodegeneration. In preclinical testing, 2-hydroxypropyl-β-cyclodextrins (HPβCD) significantly delayed cerebellar Purkinje cell loss, slowed progression of neurological manifestations, and increased lifespan in mouse and cat models of NPC1. The aim of this study was to assess the safety and efficacy of lumbar intrathecal HPβCD. METHODS: In this open-label, dose-escalation phase 1-2a study, we gave monthly intrathecal HPβCD to participants with NPC1 with neurological manifestation at the National Institutes of Health (NIH), Bethesda, MD, USA...
August 10, 2017: Lancet
https://www.readbyqxmd.com/read/28798882/evolution-of-orofacial-symptoms-and-disease-progression-in-idiopathic-parkinson-s-disease-longitudinal-data-from-the-j%C3%A3-nk%C3%A3-ping-parkinson-registry
#6
Seyed-Mohammad Fereshtehnejad, Örjan Skogar, Johan Lökk
BACKGROUND: Orofacial symptoms are common in Parkinson's disease (PD) both as initial manifestations and late markers of disease complications. We aimed to investigate the evolution of orofacial manifestations and their prognostic value throughout PD progression. METHODS: Data was obtained from "Jönköping Parkinson Registry" database on routine care visits of 314 people with idiopathic PD in southern Sweden. Information on baseline symptomatology, orofacial features, UPDRS, and medications was recorded at baseline and during each follow-up visit within an average of 4...
2017: Parkinson's Disease
https://www.readbyqxmd.com/read/28796986/evaluation-of-stomatognathic-problems-in-children-with-osteogenesis-imperfecta-osteogenesis-imperfecta-oi-preliminary-study
#7
Danuta Smoląg, Małgorzata Kulesa-Mrowiecka, Jerzy Sułko
According to epidemiological data, muscular dysfunctions of the masticatory system occur in 15-23% of the population. Preventive examinations of functional disorders of the stomatognathic system are, therefore, of particular importance. A distinct group of patients exposed to dysfunctions in the area of the masticatory organ locomotor apparatus comprises those with genetic diseases characterised by disorders in collagen formation. One of such diseases is osteogenesis imperfecta (OI) and dentinogenesis imperfecta that usually goes together with the former...
2017: Developmental Period Medicine
https://www.readbyqxmd.com/read/28796088/the-effect-of-citalopram-versus-a-placebo-on-central-auditory-processing-in-the-elderly
#8
Jose Fernando Polanski, Alexandra Dezani Soares, Liliane Desgualdo Pereira, Oswaldo Laercio de Mendonça Cruz
OBJECTIVE: Evaluate the effects of therapy with citalopram on the central auditory processing in the elderly measured by central auditory tests. STUDY DESIGN: Prospective, randomized, double-blind, placebo-controlled study. SETTING: Tertiary referral center. PATIENTS: Thirty-nine patients older than 60 years with normal hearing thresholds or symmetrical sensorineural hearing loss up to 70 dBHL, word-recognition score equal to or better than 70%, and diagnosed with central auditory processing disorders completed the study...
August 8, 2017: Otology & Neurotology
https://www.readbyqxmd.com/read/28794973/increased-glutamate-gaba-ratio-in-a-shared-autistic-and-schizotypal-trait-phenotype-termed-social-disorganisation
#9
Talitha C Ford, Richard Nibbs, David P Crewther
Autism and schizophrenia are multi-dimensional spectrum disorders that have substantial phenotypic overlap. This overlap is readily identified in the non-clinical population, and has been conceptualised as Social Disorganisation (SD). This study investigates the balance of excitatory glutamate and inhibitory γ-aminobutyric acid (GABA) concentrations in a non-clinical sample with high and low trait SD, as glutamate and GABA abnormalities are reported across the autism and schizophrenia spectrum disorders. Participants were 18 low (10 females) and 19 high (9 females) SD scorers aged 18 to 40 years who underwent (1)H-MRS for glutamate and GABA+macromolecule (GABA+) concentrations in right and left hemisphere superior temporal (ST) voxels...
2017: NeuroImage: Clinical
https://www.readbyqxmd.com/read/28794905/further-clinical-delineation-of-the-mef2c-haploinsufficiency-syndrome-report-on-new-cases-and-literature-review-of-severe-neurodevelopmental-disorders-presenting-with-seizures-absent-speech-and-involuntary-movements
#10
REVIEW
Irena Vrečar, Josie Innes, Elizabeth A Jones, Helen Kingston, William Reardon, Bronwyn Kerr, Jill Clayton-Smith, Sofia Douzgou
Mutations in the MEF2C ( myocyte enhancer factor 2 ) gene have been established as a cause for an intellectual disability syndrome presenting with seizures, absence of speech, stereotypic movements, hypotonia, and limited ambulation. Phenotypic overlap with Rett's and Angelman's syndromes has been noted. Following the first reports of 5q14.3q15 microdeletions encompassing the MEF2C gene, further cases with point mutations and partial gene deletions of the MEF2C gene have been described. We present the clinical phenotype of our cohort of six patients with MEF2C mutations and compare our findings with previously reported patients as well as with a growing number of genetic conditions presenting with a severe neurodevelopmental, Rett-like, phenotype...
September 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/28793171/reporting-of-socioeconomic-status-in-pediatric-language-research
#11
Ella Inglebret, Shana Bailey, Jeanne Amie Clothiaux, Amy Skinder-Meredith, Kayla Monson, Lesli Cleveland
Purpose: This study examined language-focused research articles published in 3 American Speech-Language-Hearing Association journals to: (a) determine the proportion that reported the socioeconomic status (SES) of pediatric participants and (b) identify the indicators used to represent SES in these articles. Method: Researchers reviewed articles published from 2000-2015 in Language, Speech, and Hearing Services in Schools, the American Journal of Speech-Language Pathology, and the Journal of Speech, Language, and Hearing Research (language section) that involved pediatric participants and focused on language development, as well as on assessment and intervention for language disorders...
August 15, 2017: American Journal of Speech-language Pathology
https://www.readbyqxmd.com/read/28790903/increase-in-beta-band-activity-during-preparation-for-overt-speech-in-patients-with-parkinson-s-disease
#12
Peter Sörös, Nuria Doñamayor, Catharina Wittke, Mohamed Al-Khaled, Norbert Brüggemann, Thomas F Münte
Speech impairment is a frequent and often serious symptom of Parkinson's disease (PD), characterized by a disorder of phonation, articulation and prosody. While research on the pathogenesis of the prominent limb motor symptoms has made considerable progress in recent years, the pathophysiology of PD speech impairment is still incompletely understood. To investigate the neural correlates of speech production in PD, EEG was recorded in 14 non-demented patients with idiopathic PD and preserved verbal fluency on regular dopaminergic medication (8 women; mean age ± SD: 69...
2017: Frontiers in Human Neuroscience
https://www.readbyqxmd.com/read/28781152/speech-and-language-translating-the-genome
#13
REVIEW
Pelagia Deriziotis, Simon E Fisher
Investigation of the biological basis of human speech and language is being transformed by developments in molecular technologies, including high-throughput genotyping and next-generation sequencing of whole genomes. These advances are shedding new light on the genetic architecture underlying language-related disorders (speech apraxia, specific language impairment, developmental dyslexia) as well as that contributing to variation in relevant skills in the general population. We discuss how state-of-the-art methods are uncovering a range of genetic mechanisms, from rare mutations of large effect to common polymorphisms that increase risk in a subtle way, while converging on neurogenetic pathways that are shared between distinct disorders...
August 3, 2017: Trends in Genetics: TIG
https://www.readbyqxmd.com/read/28780063/reorganization-of-language-centers-in-patients-with-brain-tumors-located-in-eloquent-speech-areas-a-pre-and-postoperative-preliminary-fmri-study
#14
Katarzyna Gębska-Kośla, Bartosz Bryszewski, Dariusz J Jaskólski, Jan Fortuniak, Maciej Niewodniczy, Ludomir Stefańczyk, Agata Majos
INTRODUCTION: The aim of this study was to determine in pre- and postsurgical fMRI studies the rearrangement of the Broca's and Wernicke's areas and the lateralization index for these areas in patients with brain tumors located near speech centers. Impact of the surgical treatment on the brain plasticity was evaluated. MATERIALS AND METHODS: Pre- and postoperative fMRI examinations were performed in 10 patients with low grade glial, left-sided brain tumors located close to the Broca's (5 patients) or Wernicke's area (5 patients)...
July 29, 2017: Neurologia i Neurochirurgia Polska
https://www.readbyqxmd.com/read/28777928/the-paired-t-test-and-beyond-recommendations-for-testing-the-central-tendencies-of-two-paired-samples-in-research-on-speech-language-and-hearing-pathology
#15
Toni Rietveld, Roeland van Hout
PURPOSE: In this tutorial we review current practice in the analysis of data obtained in designs involving two dependent samples and evaluate two conventional statistics: the t test for paired samples and its non-parametric alternative, the Wilcoxon Signed Ranks test (WSR). It is a sequel to our tutorial on the analysis of designs with two independent samples on the basis of non-count data (Rietveld & van Hout, 2015). The frequency with which these statistics are used is assessed on the basis of publications on disordered communication in Clinical Linguistics & Phonetics, Journal of Communication Disorders and Journal of Speech, Language and Hearing Research for the time interval 2006-2015...
July 25, 2017: Journal of Communication Disorders
https://www.readbyqxmd.com/read/28777499/alg13-cdg-in-a-male-with-seizures-normal-cognitive-development-and-normal-transferrin-isoelectric-focusing
#16
Therese E Gadomski, Melody Bolton, Majid Alfadhel, Chris Dvorak, Olalekan A Ogunsakin, Stephen L Nelson, Eva Morava
ALG13-CDG has been recently discovered as a disorder of severe developmental, intellectual and speech disability, microcephaly, visual abnormalities, seizures, hepatomegaly, coagulation abnormalities, and abnormal serumtransferrin isoelectric focusing in serum. A male with seizures, delayed motor, and speech development, but normal cognition carried a hemizygous, predicted pathogenic ALG13 variant (p.E463G). N-glycosylation studies in plasma were normal. ICAM-1 expression was decreased in patient fibroblasts, supporting the variant's pathogenicity...
August 4, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28776062/a-mindfulness-practice-for-communication-sciences-and-disorders-undergraduate-and-speech-language-pathology-graduate-students-effects-on-stress-self-compassion-and-perfectionism
#17
Ann R Beck, Heidi Verticchio, Scott Seeman, Emma Milliken, Heidi Schaab
Purpose: The purpose of the present study was to explore the effects of a mindfulness practice on participants' levels of self-compassion, perfectionism, attention, and perceived and biological stress. Method: This was a between-groups design. Experimental participants engaged in a short mindfulness practice weekly for one academic semester; control participants did not. All participants completed three self-report scales measuring perceived stress, self-compassion, and perfectionism before and after mindfulness sessions...
August 15, 2017: American Journal of Speech-language Pathology
https://www.readbyqxmd.com/read/28774670/exploring-a-method-for-evaluation-of-preschool-and-school-children-with-autism-spectrum-disorder-through-checking-their-understanding-of-the-speaker-s-emotions-with-the-help-of-prosody-of-the-voice
#18
Mayumi Horie, Hitoshi Okamura
PURPOSE: We attempted to evaluate the ability of 125 preschool and school children with autism spectrum disorder (ASD children) to understand the intentions of those speaking to them using prosody of the voice, by comparing it with that of 119 typically developing children (TDC) and 51 development-age-matched children with attention deficit hyperactivity disorder (ADHD children), and to explore, based on the results, a method for objective evaluation of children with ASD in the early and later periods of childhood...
July 31, 2017: Brain & Development
https://www.readbyqxmd.com/read/28772287/a-systematic-review-of-speech-assessments-for-children-with-autism-spectrum-disorder-recommendations-for-best-practice
#19
Kate Broome, Patricia McCabe, Kimberley Docking, Maree Doble
Purpose: The purpose of this systematic review was to provide a summary and evaluation of speech assessments used with children with autism spectrum disorders (ASD). A subsequent narrative review was completed to ascertain the core components of an evidence-based pediatric speech assessment, which, together with the results of the systematic review, provide clinical and research guidelines for best practice. Method: A systematic search of eight databases was used to find peer-reviewed research articles published between 1990 and 2014 assessing the speech of children with ASD...
August 15, 2017: American Journal of Speech-language Pathology
https://www.readbyqxmd.com/read/28770118/new-onset-insomnia-in-a-pediatric-patient-a-case-of-anti-nmda-receptor-encephalitis
#20
Tamar N Goldberg, Michael F Cellucci
Anti-NMDAR encephalitis is becoming more widely recognized as a cause of encephalopathy in both adults and children. Certain clinical features such as mood lability, movement disorders, speech dysfunction, seizures, and autonomic instability in a pediatric patient should prompt immediate concern and evaluation for autoimmune encephalitis among providers. We present the case of a pediatric patient with anti-NMDAR encephalitis in which the symptom prompting medical evaluation was insomnia. Insomnia has not previously been emphasized in the literature as a presenting feature of this disease in children and has a broad differential...
2017: Case Reports in Pediatrics
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