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https://www.readbyqxmd.com/read/29149697/characteristics-of-motor-speech-phenotypes-in-multiple-sclerosis
#1
Jan Rusz, Barbora Benova, Hana Ruzickova, Michal Novotny, Tereza Tykalova, Jan Hlavnicka, Tomas Uher, Manuela Vaneckova, Michaela Andelova, Klara Novotna, Lucie Kadrnozkova, Dana Horakova
BACKGROUND: Motor speech disorders in multiple sclerosis (MS) are poorly understood and their quantitative, objective acoustic characterization remains limited. Additionally, little data regarding relationships between the severity of speech disorders and neurological involvement in MS, as well as the contribution of pyramidal and cerebellar functional systems on speech phenotypes, is available. METHODS: Speech data were acquired from 141 MS patients with Expanded Disability Status Scale (EDSS) ranging from 1 to 6...
November 8, 2017: Multiple Sclerosis and related Disorders
https://www.readbyqxmd.com/read/29148845/speech-recovery-and-language-plasticity-can-be-facilitated-by-sensori-motor-fusion-training-in-chronic-non-fluent-aphasia-a-case-report-study
#2
Célise Haldin, Audrey Acher, Louise Kauffmann, Thomas Hueber, Emilie Cousin, Pierre Badin, Pascal Perrier, Diandra Fabre, Dominic Perennou, Olivier Detante, Assia Jaillard, Hélène Lœvenbruck, Monica Baciu
The rehabilitation of speech disorders benefits from providing visual information which may improve speech motor plans in patients. We tested the proof of concept of a rehabilitation method (Sensori-Motor Fusion, SMF; Ultraspeech player) in one post-stroke patient presenting chronic non-fluent aphasia. SMF allows visualisation by the patient of target tongue and lips movements using high-speed ultrasound and video imaging. This can improve the patient's awareness of his/her own lingual and labial movements, which can, in turn, improve the representation of articulatory movements and increase the ability to coordinate and combine articulatory gestures...
November 17, 2017: Clinical Linguistics & Phonetics
https://www.readbyqxmd.com/read/29147631/automated-whole-brain-tractography-affects-preoperative-surgical-decision-making
#3
Hesham Zakaria, Sameah Haider, Ian Lee
Surgery in and around eloquent brain structures poses a technical challenge when the goal of surgery is maximal safe resection. Magnetic resonance imaging (MRI) has revolutionized the diagnosis and treatment of neurological disorders, but tractography still remains limited in terms of utility because of the requisite manual labor and time required combined with the high risk of bias and inaccuracy. Automated whole brain tractography (AWBT) has simplified this workflow, overcoming historical barriers, and allowing for integration into modern neuronavigation...
September 6, 2017: Curēus
https://www.readbyqxmd.com/read/29137650/recessive-vars2-mutation-underlies-a-novel-syndrome-with-epilepsy-mental-retardation-short-stature-growth-hormone-deficiency-and-hypogonadism
#4
Abdulaziz Alsemari, Banan Al-Younes, Ewa Goljan, Dyala Jaroudi, Faisal BinHumaid, Brian F Meyer, Stefan T Arold, Dorota Monies
BACKGROUND: Most mitochondrial and cytoplasmic aminoacyl-tRNA synthetases (aaRSs) are encoded by nuclear genes. Syndromic disorders resulting from mutation of aaRSs genes display significant phenotypic heterogeneity. We expand aaRSs-related phenotypes through characterization of the clinical and molecular basis of a novel autosomal-recessive syndrome manifesting severe mental retardation, ataxia, speech impairment, epilepsy, short stature, microcephaly, hypogonadism, and growth hormone deficiency...
November 14, 2017: Human Genomics
https://www.readbyqxmd.com/read/29132079/absence-of-delay-in-spontaneous-use-of-gestures-in-spoken-narratives-among-children-with-autism-spectrum-disorders
#5
Miranda Kit-Yi Wong, Wing-Chee So
BACKGROUND: Gestures are spontaneous hand movements produced when speaking. Despite gestures being of communicative significance, little is known about the gestural production in spoken narratives in six- to 12-year-old children with Autism Spectrum Disorders (ASD). AIMS: The present study examined whether six- to 12-year-old children with ASD have a delay in gestural production in a spoken narrative task, in comparison to their typically-developing (TD) peers. METHODS AND PROCEDURES: Six- to-12-year-old children with ASD (N=14) and their age- and IQ-matched TD peers (N=12) narrated a story, which could elicit spontaneous speech and gestures...
November 10, 2017: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/29130141/sj%C3%A3-gren-s-syndrome-initially-presented-as-thrombotic-thrombocytopenic-purpura-in-a-male-patient-a-case-report-and-literature-review
#6
REVIEW
Xiaohan Xu, Tienan Zhu, Di Wu, Lu Zhang
Thrombotic thrombocytopenic purpura (TTP) is a potentially lethal multisystem disorder which could be caused by autoimmune diseases. However, the concomitant occurrence of TTP and Sjögren's syndrome (SS) is an extremely uncommon scenario, especially in male patients. A 56-year-old Chinese male was admitted for the appearance of diffuse ecchymosis. Then he gradually developed transient slurred speech, progressive confusion, agitation, extremity weakness, and fever. Laboratory investigations suggested anemia, thrombocytopenia, significantly increased lactic dehydrogenase, schistocytes in peripheral blood smear, and a disintegrin-like metalloproteinase with thrombospondin motif type 1 member 13 (ADAMTS13) activity deficiency with high inhibitor titers...
November 13, 2017: Clinical Rheumatology
https://www.readbyqxmd.com/read/29129311/speech-disfluencies-in-children-with-down-syndrome
#7
Kurt Eggers, Sabine Van Eerdenbrugh
PURPOSE: Speech and language development in individuals with Down syndrome is often delayed and/or disordered and speech disfluencies appear to be more common. These disfluencies have been labeled over time as stuttering, cluttering or both. FINDINGS: were usually generated from studies with adults or a mixed age group, quite often using different methodologies, making it difficult to compare findings. Therefore, the purpose of this study was to analyze and describe the speech disfluencies of a group, only consisting of children with Down Syndrome between 3 and 13 years of age...
November 8, 2017: Journal of Communication Disorders
https://www.readbyqxmd.com/read/29128371/assessments-of-neurocognitive-and-behavioral-function-in-the-mucopolysaccharidoses
#8
REVIEW
Elsa G Shapiro, Maria L Escolar, Kathleen A Delaney, John J Mitchell
The mucopolysaccharidoses (MPS) are a group of rare, inherited lysosomal storage disorders in which accumulation of glycosaminoglycans (GAGs) leads to progressive tissue and organ dysfunction. In addition to a variety of somatic signs and symptoms, patients with rapidly progressing MPS I (Hurler), II, III, and VII can present with significant neurological manifestations, including impaired cognitive abilities, difficulties in language and speech, behavioral abnormalities, sleep problems, and/or seizures. Neurological symptoms have a substantial impact on the quality of life of MPS patients and their families...
September 15, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29127258/homozygous-mutation-in-cep19-a-gene-mutated-in-morbid-obesity-in-bardet-biedl-syndrome-with-predominant-postaxial-polydactyly
#9
Esra Yıldız Bölükbaşı, Sara Mumtaz, Muhammad Afzal, Ute Woehlbier, Sajid Malik, Aslıhan Tolun
BACKGROUND: Bardet-Biedl syndrome (BBS) is a ciliopathy with extensive phenotypic variability and genetic heterogeneity. We aimed to discover the gene mutated in a consanguineous kindred with multiple cases of a BBS phenotype. METHODS: SNP genotype data were used for linkage analysis and exome sequencing to identify mutations. Modelling and in silico analysis were performed to predict mutation severity. RESULTS: Patients had postaxial polydactyly plus variable other clinical features including rod-cone dystrophy, obesity, intellectual disability, renal malformation, developmental delay, dental anomalies, speech disorder and enlarged fatty liver...
November 10, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/29124960/fostering-human-rights-through-talkbank
#10
Brian MacWhinney, Davida Fromm, Yvan Rose, Nan Bernstein Ratner
In accord with articles 19 and 27 of the Universal Declaration of Human Rights, people with speech and language disorders have the right to receive maximal benefit from academic research on speech and language acquisition and disorders. To evaluate the diverse nature of speech and language disorders, this research must have access to large datasets, as well as to refined tools for the systematic analysis of these datasets. The TalkBank system addresses this need by providing researchers with thousands of hours of open-access database archives of digital audio, video and transcript files documenting typical and disordered language use in dozens of languages and cultures...
November 10, 2017: International Journal of Speech-language Pathology
https://www.readbyqxmd.com/read/29124959/speech-therapy-in-adolescents-with-down-syndrome-in-pursuit-of-communication-as-a-fundamental-human-right
#11
Susan Rvachew, Marla Folden
PURPOSE: The achievement of speech intelligibility by persons with Down syndrome facilitates their participation in society. Denial of speech therapy services by virtue of low cognitive skills is a violation of their fundamental human rights as proclaimed in the Universal Declaration of Human Rights in general and in Article 19 in particular. Here, we describe the differential response of an adolescent with Down syndrome to three speech therapy interventions and demonstrate the use of a single subject randomisation design to identify effective treatments for children with complex communication disorders...
November 10, 2017: International Journal of Speech-language Pathology
https://www.readbyqxmd.com/read/29124953/bilingualism-a-human-right-in-times-of-anxiety-lessons-from-california
#12
Gabriela Simon-Cereijido
Article 19 of the Universal Declaration of Human Rights refers to the individual's right of expression without interference, "through any media and regardless of frontiers". Currently, in some nations across the world, there is decreasing interest in cross-cultural interactions and a new interest in nationalism and assimilation, in communication within frontiers and in a specific medium: the national language. Speech-language pathologists (SLPs) advocate for individuals with communication disorders that interfere with their comprehension and expression...
November 10, 2017: International Journal of Speech-language Pathology
https://www.readbyqxmd.com/read/29122413/differences-between-subjective-and-objective-assessment-of-speech-deficiency-in-parkinson-disease
#13
Wioletta Pawlukowska, Aleksandra Szylińska, Dariusz Kotlęga, Iwona Rotter, Przemysław Nowacki
OBJECTIVES: This study aims to establish the frequency at which patients with Parkinson disease subjectively assess the intensity of their speech disorders, factors that the patients believe determine the severity of their vocal impairment, and how their subjective self-assessment of vocal impairment by means of the Voice Handicap Index compares with the objective evaluation of the performance of the articulatory organs by means of Frenchay Dysarthria Assessment. MATERIALS AND METHODS: The methods used Voice Handicap Index, Frenchay Dysarthria Assessment, and the Hoehn and Yahr scale...
November 6, 2017: Journal of Voice: Official Journal of the Voice Foundation
https://www.readbyqxmd.com/read/29121207/interfering-with-inner-speech-selectively-disrupts-problem-solving-and-is-linked-with-real-world-executive-functioning
#14
Gregory L Wallace, Cynthia S Peng, David Williams
Purpose: According to Vygotskian theory, verbal thinking serves to guide our behavior and underpins critical self-regulatory functions. Indeed, numerous studies now link inner speech usage with performance on tests of executive function (EF). However, the selectivity of inner speech contributions to multifactorial executive planning performance and links with real-world functioning are limited. Therefore, the present study seeks to fill this gap in our knowledge. Method: Fifty-one adults completed the Tower of London under 2 conditions, (a) articulatory suppression and (b) foot tapping, and provided self-ratings of real-world executive functioning (utilizing the Behavior Rating Inventory of Executive Function-Adult Version; Roth, Isquith, & Gioia, 2006)...
November 9, 2017: Journal of Speech, Language, and Hearing Research: JSLHR
https://www.readbyqxmd.com/read/29121195/a-national-survey-of-simulation-use-in-university-programs-in-communication-sciences-and-disorders
#15
Carol C Dudding, Elizabeth E Nottingham
Purpose: This study provides a framework for understanding the range and diversity of simulation use, along with the benefits and challenges to the growth of simulation in university programs in communication sciences and disorders (CSD) across the United States. Method: A web-based questionnaire was developed and deployed to educators in undergraduate and graduate speech-language pathology and audiology programs in the American Speech-Language-Hearing Association EdFind database (N = 309)...
November 9, 2017: American Journal of Speech-language Pathology
https://www.readbyqxmd.com/read/29121152/diagnostic-accuracy-of-traditional-measures-of-phonological-ability-for-bilingual-preschoolers-and-kindergarteners
#16
Leah Fabiano-Smith, Katherine Hoffman
Purpose: Bilingual children whose phonological skills are evaluated using measures designed for monolingual English speakers are at risk for misdiagnosis of speech sound disorders (De Lamo White & Jin, 2011). Method: Forty-four children participated in this study: 15 typically developing monolingual English speakers, 7 monolingual English speakers with phonological disorders, 14 typically developing bilingual Spanish-English speakers, and 8 bilingual children with phonological disorders...
November 9, 2017: Language, Speech, and Hearing Services in Schools
https://www.readbyqxmd.com/read/29117296/polygenic-risk-of-spasmodic-dysphonia-is-associated-with-vulnerable-sensorimotor-connectivity
#17
Gregory Garbès Putzel, Giovanni Battistella, Anna F Rumbach, Laurie J Ozelius, Mert R Sabuncu, Kristina Simonyan
Spasmodic dysphonia (SD), or laryngeal dystonia, is an isolated task-specific dystonia of unknown causes and pathophysiology that selectively affects speech production. Using next-generation whole-exome sequencing in SD patients, we computed polygenic risk score from 1804 genetic markers based on a genome-wide association study in another form of similar task-specific focal dystonia, musician's dystonia. We further examined the associations between the polygenic risk score, resting-state functional connectivity abnormalities within the sensorimotor network, and SD clinical characteristics...
November 19, 2016: Cerebral Cortex
https://www.readbyqxmd.com/read/29116691/hyperbaric-oxygen-in-patients-with-ischemic-stroke-following-cardiac-surgery-a-retrospective-observational-trial
#18
Viktoria Heide-Marie Weixler, Ameli Elisabeth Yates, Markus Puchinger, Birgit Zirngast, Prisca Pondorfer, Beatrice Ratzenhofer-Komenda, Andrea Amegah-Sakotnik, Freyja-Maria Smolle-Juettner, Otto Dapunt
BACKGROUND: Hyperbaric oxygenation (HBO₂) involves breathing 100% oxygen under elevated ambient pressure in a hyperbaric chamber, thereby dissolving oxygen in the plasma. This results in an increase of arterial partial pressure of oxygen (pO₂). Though well established in experimental studies, HBO₂ treatment for ischemic stroke is still under discussion. METHODS: From 2002-2014 HBO₂ (2.2 bar, 90 minutes one/day; average number per patient: 4.7) was applied in 49 consecutive patients (32 males, 17 females, mean age: 68...
2017: Undersea & Hyperbaric Medicine: Journal of the Undersea and Hyperbaric Medical Society, Inc
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
#19
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/29114043/subplate-neurons-are-the-first-cortical-neurons-to-respond-to-sensory-stimuli
#20
Jessica M Wess, Amal Isaiah, Paul V Watkins, Patrick O Kanold
In utero experience, such as maternal speech in humans, can shape later perception, although the underlying cortical substrate is unknown. In adult mammals, ascending thalamocortical projections target layer 4, and the onset of sensory responses in the cortex is thought to be dependent on the onset of thalamocortical transmission to layer 4 as well as the ear and eye opening. In developing animals, thalamic fibers do not target layer 4 but instead target subplate neurons deep in the developing white matter...
November 7, 2017: Proceedings of the National Academy of Sciences of the United States of America
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