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https://www.readbyqxmd.com/read/28644047/mutational-analysis-of-galt-gene-in-greek-patients-with-galactosaemia-identification-of-two-novel-mutations-and-clinical-evaluation
#1
Kleopatra H Schulpis, Georgia Thodi, Konstantinos Iakovou, Maria Chatzidaki, Yannis Dotsikas, Elina Molou, Olga Triantafylli, Yannis L Loukas
Classical galactosaemia is an inborn error of metabolism due to the deficiency of the enzyme galactose-1-phosphate uridylyltransferase (GALT). The aim of the study was to identify the underlying mutations in Greek patients with GALT deficiency and evaluate their psychomotor and speech development. Patients with GALT deficiency (n = 17) were picked up through neonatal screening. Mutational analysis was conducted via Sanger sequencing, while in silico analysis was used in the cases of novel missense mutations...
June 23, 2017: Scandinavian Journal of Clinical and Laboratory Investigation
https://www.readbyqxmd.com/read/28641038/interaction-of-tinnitus-suppression-and-hearing-ability-after-cochlear-implantation
#2
Qian Wang, Jia-Nan Li, Guan-Xiong Lei, Dai-Shi Chen, Wei-Ze Wang, Ai-Ting Chen, Meng-Di Mong, Sun Li, Qing-Shan Jiao, Shi-Ming Yang
OBJECTIVES: To study the postoperative impact of cochlear implants (CIs) on tinnitus, as well as the impact of tinnitus on speech recognition with CI switched on. METHODS: Fifty-two postlingual deafened CI recipients (21 males and 31 females) were assessed using an established Tinnitus Characteristics Questionnaire and Tinnitus Handicap Inventory (THI) before and after cochlear implantation. The tinnitus loudness was investigated when CI was switched on and off in CI recipients with persistent tinnitus...
June 22, 2017: Acta Oto-laryngologica
https://www.readbyqxmd.com/read/28639708/young-infants-word-comprehension-given-an-unfamiliar-talker-or-altered-pronunciations
#3
Elika Bergelson, Daniel Swingley
To understand spoken words, listeners must appropriately interpret co-occurring talker characteristics and speech sound content. This ability was tested in 6- to 14-months-olds by measuring their looking to named food and body part images. In the new talker condition (n = 90), pictures were named by an unfamiliar voice; in the mispronunciation condition (n = 98), infants' mothers "mispronounced" the words (e.g., nazz for nose). Six- to 7-month-olds fixated target images above chance across conditions, understanding novel talkers, and mothers' phonologically deviant speech equally...
June 22, 2017: Child Development
https://www.readbyqxmd.com/read/28639367/a-polydopamine-peptide-coating-enables-adipose-derived-stem-cell-growth-on-the-silicone-surface-of-cochlear-implant-electrode-arrays
#4
Philipp Schendzielorz, Kristen Rak, Katrin Radeloff, Johannes Völker, Thomas Gehrke, Agmal Scherzad, Norbert Kleinsasser, Rudolf Hagen, Andreas Radeloff
The simultaneous application of neurotrophic factors with cochlear implantation is proposed to enhance the bioelectrical interface between electrodes and auditory neurons, and thus improve speech intelligibility in patients with cochlear implants (CIs). In cell-based approaches, the goal is to colonize CIs with cells producing neurotrophic factors. This study aims to evaluate whether a polydopamine (PD) functionalization of the hydrophobic silicone surface of the electrode carrier enables colonization of adipose-derived stem cells known to deliver neurotrophic factors...
June 22, 2017: Journal of Biomedical Materials Research. Part B, Applied Biomaterials
https://www.readbyqxmd.com/read/28638330/flat-vs-expressive-storytelling-young-children-s-learning-and-retention-of-a-social-robot-s-narrative
#5
Jacqueline M Kory Westlund, Sooyeon Jeong, Hae W Park, Samuel Ronfard, Aradhana Adhikari, Paul L Harris, David DeSteno, Cynthia L Breazeal
Prior research with preschool children has established that dialogic or active book reading is an effective method for expanding young children's vocabulary. In this exploratory study, we asked whether similar benefits are observed when a robot engages in dialogic reading with preschoolers. Given the established effectiveness of active reading, we also asked whether this effectiveness was critically dependent on the expressive characteristics of the robot. For approximately half the children, the robot's active reading was expressive; the robot's voice included a wide range of intonation and emotion (Expressive)...
2017: Frontiers in Human Neuroscience
https://www.readbyqxmd.com/read/28637445/cerebellar-mutism-syndrome-in-children-with-brain-tumours-of-the-posterior-fossa
#6
Morten Wibroe, Johan Cappelen, Charlotte Castor, Niels Clausen, Pernilla Grillner, Thora Gudrunardottir, Ramneek Gupta, Bengt Gustavsson, Mats Heyman, Stefan Holm, Atte Karppinen, Camilla Klausen, Tuula Lönnqvist, René Mathiasen, Pelle Nilsson, Karsten Nysom, Karin Persson, Olof Rask, Kjeld Schmiegelow, Astrid Sehested, Harald Thomassen, Ingrid Tonning-Olsson, Barbara Zetterqvist, Marianne Juhler
BACKGROUND: Central nervous system tumours constitute 25% of all childhood cancers; more than half are located in the posterior fossa and surgery is usually part of therapy. One of the most disabling late effects of posterior fossa tumour surgery is the cerebellar mutism syndrome (CMS) which has been reported in up to 39% of the patients but the exact incidence is uncertain since milder cases may be unrecognized. Recovery is usually incomplete. Reported risk factors are tumour type, midline location and brainstem involvement, but the exact aetiology, surgical and other risk factors, the clinical course and strategies for prevention and treatment are yet to be determined...
June 21, 2017: BMC Cancer
https://www.readbyqxmd.com/read/28633531/the-effectiveness-of-aided-augmented-input-techniques-for-persons-with-developmental-disabilities-a-systematic-review
#7
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/28632327/photosensitivity-is-an-early-marker-of-neuronal-ceroid-lipofuscinosis-type-2-disease
#8
Nicola Specchio, Marcello Bellusci, Nicola Pietrafusa, Marina Trivisano, Luca de Palma, Federico Vigevano
OBJECTIVE: This study aimed to identify early clinical, magnetic resonance imaging (MRI), and electroencephalographic (EEG) characteristics of neuronal ceroid lipofuscinosis type 2 (CLN2) disease to enable early diagnosis, thus providing the key to early treatment, and optimized care and outcomes. METHODS: Retrospective clinical chart review of a series of patients diagnosed with CLN2 disease from 2005 to 2015 at a single center in Italy. Clinical, MRI, and EEG findings were reviewed...
June 20, 2017: Epilepsia
https://www.readbyqxmd.com/read/28632098/utility-and-accuracy-of-perceptual-voice-and-speech-distinctions-in-the-diagnosis-of-parkinson-s-disease-psp-and-msa-p
#9
Nick Miller, Uma Nath, Emma Noble, David Burn
AIM: To determine if perceptual speech measures distinguish people with Parkinson's disease (PD), multiple system atrophy with predominant parkinsonism (MSA-P) and progressive supranuclear palsy (PSP). METHODS: Speech-language therapists blind to patient characteristics employed clinical rating scales to evaluate speech/voice in 24 people with clinically diagnosed PD, 17 with PSP and 9 with MSA-P, matched for disease duration (mean 4.9 years, standard deviation 2...
June 20, 2017: Neurodegenerative Disease Management
https://www.readbyqxmd.com/read/28631682/-the-combined-treatment-of-dysphonia-in-the-subjects-engaged-in-the-voice-and-speech-professions
#10
Yu E Stepanova, T V Gotovyakhina, A A Korneenkov, E E Koren'
The objective of the present study was to evaluate the effectiveness of the application of homeovox for the combined treatment of small vocal cord nodules and acute laryngitis in the professional voice users. A total of 40 subjects presenting with dysphonia were examined after they were divided into two study groups and two groups of comparison depending on the nosological form of the pathological condition. The subjects comprising the study groups were given traditional therapy in the combination with the intake of homeovox whereas the patients included in the two groups of comparison received the traditional treatment alone...
2017: Vestnik Otorinolaringologii
https://www.readbyqxmd.com/read/28618828/pavement-type-and-wear-condition-classification-from-tire-cavity-acoustic-measurements-with-artificial-neural-networks
#11
Johannes Masino, Michael-Jan Foitzik, Michael Frey, Frank Gauterin
Tire road noise is the major contributor to traffic noise, which leads to general annoyance, speech interference, and sleep disturbances. Standardized methods to measure tire road noise are expensive, sophisticated to use, and they cannot be applied comprehensively. This paper presents a method to automatically classify different types of pavement and the wear condition to identify noisy road surfaces. The methods are based on spectra of time series data of the tire cavity sound, acquired under normal vehicle operation...
June 2017: Journal of the Acoustical Society of America
https://www.readbyqxmd.com/read/28614413/perceived-differences-in-social-status-between-speaker-and-listener-affect-the-speaker-s-vocal-characteristics
#12
Juan David Leongómez, Viktoria R Mileva, Anthony C Little, S Craig Roberts
Non-verbal behaviours, including voice characteristics during speech, are an important way to communicate social status. Research suggests that individuals can obtain high social status through dominance (using force and intimidation) or through prestige (by being knowledgeable and skilful). However, little is known regarding differences in the vocal behaviour of men and women in response to dominant and prestigious individuals. Here, we tested within-subject differences in vocal parameters of interviewees during simulated job interviews with dominant, prestigious, and neutral employers (targets), while responding to questions which were classified as introductory, personal, and interpersonal...
2017: PloS One
https://www.readbyqxmd.com/read/28612476/association-between-speech-language-general-cognitive-functioning-and-behaviour-problems-in-individuals-with-williams-syndrome
#13
N F Rossi, C M Giacheti
BACKGROUND: Williams syndrome (WS) phenotype is described as unique and intriguing. The aim of this study was to investigate the associations between speech-language abilities, general cognitive functioning and behavioural problems in individuals with WS, considering age effects and speech-language characteristics of WS sub-groups. METHODS: The study's participants were 26 individuals with WS and their parents. General cognitive functioning was assessed with the Wechsler Intelligence Scale...
July 2017: Journal of Intellectual Disability Research: JIDR
https://www.readbyqxmd.com/read/28610445/aversive-eye-gaze-during-a-speech-in-virtual-environment-in-patients-with-social-anxiety-disorder
#14
Haena Kim, Jung Eun Shin, Yeon-Ju Hong, Yu-Bin Shin, Young Seok Shin, Kiwan Han, Jae-Jin Kim, Soo-Hee Choi
OBJECTIVE: One of the main characteristics of social anxiety disorder is excessive fear of social evaluation. In such situations, anxiety can influence gaze behaviour. Thus, the current study adopted virtual reality to examine eye gaze pattern of social anxiety disorder patients while presenting different types of speeches. METHODS: A total of 79 social anxiety disorder patients and 51 healthy controls presented prepared speeches on general topics and impromptu speeches on self-related topics to a virtual audience while their eye gaze was recorded...
June 1, 2017: Australian and New Zealand Journal of Psychiatry
https://www.readbyqxmd.com/read/28609679/segregating-polymorphisms-of-foxp2-are-associated-with-measures-of-inner-speech-speech-fluency-and-strength-of-handedness-in-a-healthy-population
#15
Bernard Crespi, Silven Read, Peter Hurd
We genotyped a healthy population for three haplotype-tagging FOXP2 SNPs, and tested for associations of these SNPs with strength of handedness and questionnaire-based metrics of inner speech characteristics (ISP) and speech fluency (FLU), as derived from the Schizotypal Personality Questionnaire-BR. Levels of mixed-handedness were positively correlated with ISP and FLU, supporting prior work on these two domains. Genotype for rs7799109, a SNP previously linked with lateralization of left frontal regions underlying language, was associated with degree of mixed handedness and with scores for ISP and FLU phenotypes...
June 10, 2017: Brain and Language
https://www.readbyqxmd.com/read/28606112/acute-cerebellitis-in-children-an-eleven-year-retrospective-multicentric-study-in-italy
#16
Laura Lancella, Susanna Esposito, Maria Luisa Galli, Elena Bozzola, Valeria Labalestra, Elena Boccuzzi, Andrzej Krzysztofiak, Laura Cursi, Guido Castelli Gattinara, Nadia Mirante, Danilo Buonsenso, Claudia Tagliabue, Luca Castellazzi, Carlotta Montagnani, Chiara Tersigni, Piero Valentini, Michele Capozza, Davide Pata, Maria Di Gangi, Piera Dones, Silvia Garazzino, Luca Baroero, Alberto Verrotti, Maria Luisa Melzi, Michele Sacco, Michele Germano, Filippo Greco, Elena Uga, Giovanni Crichiutti, Alberto Villani
BACKGROUND: Acute cerebellitis (AC) and acute cerebellar ataxia (ACA) are the principal causes of acute cerebellar dysfunction in childhood. Nevertheless. there is no accepted consensus regarding the best management of children with AC/ACA: the aim of the study is both to assess clinical, neuroimaging and electrophysiologic features of children with AC/ACA and to evaluate the correlation between clinical parameters, therapy and outcome. METHODS: A multicentric retrospective study was conducted on children ≤ 18 years old admitted to 12 Italian paediatric hospitals for AC/ACA from 01/01/2003 to 31/12/2013...
June 12, 2017: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/28606043/a-study-of-extrapyramidal-manifestations-accompanying-decompensated-viral-hepatic-cirrhosis-patients
#17
Samia Ashour, Ahmed Gaber, Osama Aboelfotoh Aly, Saeed Hashem, Mohamed Salama, Ali Shalash
Despite the high prevalence of viral hepatic cirrhosis all over the world, the characteristic motor features of related Parkinsonism (extrapyramidal manifestations) are not well described. The current study aimed to characterize such disorder in a sample of Egyptian patients with chronic viral liver disease (CLD), and their clinical correlates. METHODS: Ninety-six (96) patients with CLD were examined for presence of extrapyramidal signs. Parkinsonism was assessed using the UPDRS-III scale and its sub scores...
June 12, 2017: Reviews on Recent Clinical Trials
https://www.readbyqxmd.com/read/28602633/automated-cleft-speech-evaluation-using-speech-recognition
#18
Megan Vucovich, Rami R Hallac, Alex A Kane, Julie Cook, Cortney Van'T Slot, James R Seaward
Perceptual evaluation remains the gold-standard evaluation of cleft speech, but with any human interpretation, there can be bias. Eliminating bias, allowing comparison of speech data between units, is labor and time intensive. Globally, there is a shortage of listeners. We have developed a computer learning system to evaluate cleft speech. Our automated cleft speech evaluator interprets resonance and articulatory cleft speech errors. Speech recognition engines typically ignore voice characteristics and speech errors of the speaker, but in cleft speech evaluation, these features are paramount...
May 17, 2017: Journal of Cranio-maxillo-facial Surgery
https://www.readbyqxmd.com/read/28602134/the-effects-of-early-auditory-based-intervention-on-adult-bilateral-cochlear-implant-outcomes
#19
Stacey R Lim
OBJECTIVES: The goal of this exploratory study was to determine the types of improvement that sequentially implanted auditory-verbal and auditory-oral adults with prelingual and childhood hearing loss received in bilateral listening conditions, compared to their best unilateral listening condition. METHODS: Five auditory-verbal adults and five auditory-oral adults were recruited for this study. Participants were seated in the center of a 6-loudspeaker array. BKB-SIN sentences were presented from 0° azimuth, while multi-talker babble was presented from various loudspeakers...
June 12, 2017: Cochlear Implants International
https://www.readbyqxmd.com/read/28599765/don-t-ask-or-tell-pay-secrecy-policies-in-u-s-workplaces
#20
Jake Rosenfeld
How widespread are workplace rules against discussing wages and salaries in the U.S.? And what are the core correlates of whether or not an employer prohibits or discourages this type of speech? Using a unique dataset that includes a measure of whether workers are prohibited or discouraged from discussing pay, this article investigates the prevalence of pay secrecy policies, and what worker- and workplace-level characteristics are associated with these rules. Key findings reveal that these policies are commonplace, despite being illegal, and that they are concentrated in more "coercive" rather than "enabling" organizations...
July 2017: Social Science Research
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