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https://www.readbyqxmd.com/read/28441826/-a-childhood-onset-rapid-onset-dystonia-parkinsonism-family-with-atp1a3-gene-mutation-and-literatures-review
#1
C L Zhang, F Yin, F He, N Gai, Z Q Shi, J Peng
Objective: To explore clinical characteristics, treatment, and prognosis of a family with childhood-onset rapid-onset dystonia parkinsonism (RDP) caused by ATP1A3 gene mutation and review literatures. Method: The clinical data of a RDP child, his brother and mother had been analyzed retrospectively. This family was admitted to Xiangya Hospital in January 2016. DNA samples were analyzed by the next-generation sequencing and confirmed by Sanger sequencing. Related literature from PubMed, Online Mendelian Inheritance in Man (OMIM), CNKI and Wanfang databases to date (up to October 2016) with"Rapid-onset dystonia-parkinsonism"RDP"DYT12" as key words was reviewed...
April 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/28436889/design-and-implementation-of-a-tactile-stimulation-device-to-increase-auditory-discrimination
#2
Shahrzad Abbasi Baharanchi, Majid MohammadBeigi, Fatemeh Abnavi, Samira Tavakol
Reading is a complex process that requires various simultaneous brain processes. One of the most common types of reading disorders is developmental dyslexia, and one of the objectives of speech therapy sessions for children with developmental dyslexia is to increase their auditory discrimination. One of the most commonly used Auditory Discrimination Tests (ADTs) is Wepman's Auditory Discrimination Test (WADT). It includes minimal pair words categorized by characteristics of vowels and consonants. The goal of this research is to design and implement a tactile stimulation device based on Wepman's test to increase auditory discrimination in children with developmental dyslexia in therapy sessions, so that while playing each word for the children, vibrational cues are presented to their left palm and fingers...
April 24, 2017: IEEE Transactions on Haptics
https://www.readbyqxmd.com/read/28431691/sensorimotor-activity-measured-via-oscillations-of-eeg-mu-rhythms-in-speech-and-non-speech-discrimination-tasks-with-and-without-segmentation-demands
#3
David Thornton, Ashley W Harkrider, David Jenson, Tim Saltuklaroglu
Better understanding of the role of sensorimotor processing in speech and non-speech segmentation can be achieved with more temporally precise measures. Twenty adults made same/different discriminations of speech and non-speech stimuli pairs, with and without segmentation demands. Independent component analysis of 64-channel EEG data revealed clear sensorimotor mu components, with characteristic alpha and beta peaks, localized to premotor regions in 70% of participants.Time-frequency analyses of mu components from accurate trials showed that (1) segmentation tasks elicited greater event-related synchronization immediately following offset of the first stimulus, suggestive of inhibitory activity; (2) strong late event-related desynchronization in all conditions, suggesting that working memory/covert replay contributed substantially to sensorimotor activity in all conditions; (3) stronger beta desynchronization in speech versus non-speech stimuli during stimulus presentation, suggesting stronger auditory-motor transforms for speech versus non-speech stimuli...
April 18, 2017: Brain and Language
https://www.readbyqxmd.com/read/28425760/polar-phase-indices-of-perioral-muscle-reciprocity-during-syllable-production-in-parkinson-s-disease
#4
Shin Ying Chu, Steven M Barlow, Jaehoon Lee, Jingyan Wang
PURPOSE: This research characterised perioral muscle reciprocity and amplitude ratio in lower lip during bilabial syllable production [pa] at three rates to understand the neuromotor dynamics and scaling of motor speech patterns in individuals with Parkinson's disease (PD). METHOD: Electromyographic (EMG) signals of the orbicularis oris superior [OOS], orbicularis oris inferior [OOI] and depressor labii inferioris [DLI] were recorded during syllable production and expressed as polar-phase notations...
February 8, 2017: International Journal of Speech-language Pathology
https://www.readbyqxmd.com/read/28421851/global-and-multi-focal-changes-in-cerebral-blood-flow-during-subthalamic-nucleus-stimulation-in-parkinson-s-disease
#5
Asim M Mubeen, Babak Ardekani, Michele Tagliati, Ron Alterman, Vijay Dhawan, David Eidelberg, John J Sidtis
Electrical stimulation of subthalamic nuclei (STN) is a widely used therapy in Parkinson's disease (PD). While deep brain stimulation (DBS) of the STN alters the neurophysiological activity in basal ganglia, the therapeutic mechanism has not been established. A positron emission tomography (PET) study of cerebral blood flow (CBF) during speech production in PD subjects treated with STN-DBS found significant increases in global (whole-brain) CBF.(1) That study utilized a series of whole-slice regions of interest to obtain global CBF values...
January 1, 2017: Journal of Cerebral Blood Flow and Metabolism
https://www.readbyqxmd.com/read/28419501/stakeholders-views-of-the-introduction-of-assistive-technology-in-the-classroom-how-family-centred-is-australian-practice-for-students-with-cerebral-palsy
#6
P Karlsson, C Johnston, K Barker
BACKGROUND: With family-centred care widely recognized as a cornerstone for effective assistive technology service provision, the current study was undertaken to investigate to what extent such approaches were used by schools when assistive technology assessments and implementation occurred in the classroom. METHOD: In this cross-sectional study, we compare survey results from parents (n = 76), school staff (n = 33) and allied health professionals (n = 65) with experience in the use of high-tech assistive technology...
April 17, 2017: Child: Care, Health and Development
https://www.readbyqxmd.com/read/28409732/the-surgical-treatment-of-tumors-of-the-fourth-ventricle-a-single-institution-experience
#7
Sherise D Ferguson, Nicholas B Levine, Dima Suki, Andrew J Tsung, Fredrick F Lang, Raymond Sawaya, Jeffrey S Weinberg, Ian E McCutcheon
OBJECTIVE Fourth ventricle tumors are rare, and surgical series are typically small, comprising a single pathology, or focused exclusively on pediatric populations. This study investigated surgical outcome and complications following fourth ventricle tumor resection in a diverse patient population. This is the largest cohort of fourth ventricle tumors described in the literature to date. METHODS This is an 18-year (1993-2010) retrospective review of 55 cases involving patients undergoing surgery for tumors of the fourth ventricle...
April 14, 2017: Journal of Neurosurgery
https://www.readbyqxmd.com/read/28407233/language-disorder-and-retrospectively-reported-sexual-abuse-of-girls-severity-and-disclosure
#8
E B Brownlie, Eva Graham, Lin Bao, Emiko Koyama, Joseph H Beitchman
BACKGROUND: Despite emerging evidence for an association between communication disorders and maltreatment, little research has examined sexual abuse characteristics or disclosure experiences among individuals with language disorder (LD). Given that communication difficulties may constitute a barrier to disclosure, the disclosure experiences among individuals with and without communication difficulties may also differ. METHODS: Five-year-old children identified with a language and/or speech disorder from a nonclinical community sample and a control group were followed to adulthood in a prospective longitudinal study...
April 13, 2017: Journal of Child Psychology and Psychiatry, and Allied Disciplines
https://www.readbyqxmd.com/read/28400488/predictors-of-dysphagia-in-acute-pontine-infarction
#9
Sriramya Lapa, Sebastian Luger, Waltraud Pfeilschifter, Christian Henke, Marlies Wagner, Christian Foerch
BACKGROUND AND PURPOSE: Little is known about the frequency and the clinical characteristics of neurogenic dysphagia in pontine strokes. In this study, we sought to identify predictors for dysphagia in a cohort of patients with isolated pontine infarctions. METHODS: We included all patients admitted to our department between 2008 and 2014 having an acute (<48 hours after symptom onset) ischemic stroke in the pons, as documented by means of diffusion-weighted magnetic resonance imaging...
April 11, 2017: Stroke; a Journal of Cerebral Circulation
https://www.readbyqxmd.com/read/28389021/ictal-speech-and-language-dysfunction-in-adult-epilepsy-clinical-study-of-95%C3%A2-seizures
#10
C Dussaule, C Cauquil, C Flamand-Roze, J-P Gagnepain, V Bouilleret, C Denier, P Masnou
PURPOSE: To analyze the semiological characteristics of the language and speech disorders arising during epileptic seizures, and to describe the patterns of language and speech disorders that can predict laterality of the epileptic focus. METHOD: This study retrospectively analyzed 95 consecutive videos of seizures with language and/or speech disorders in 44 patients admitted for diagnostic video-EEG monitoring. Laterality of the epileptic focus was defined according to electro-clinical correlation studies and structural and functional neuroimaging findings...
April 4, 2017: Revue Neurologique
https://www.readbyqxmd.com/read/28382742/mechanical-tuning-and-amplification-within-the-apex-of-the-guinea-pig-cochlea
#11
Alberto Recio-Spinoso, John S Oghalai
The popular notion of mammalian cochlear function is that auditory nerves are tuned to respond best to different sound frequencies because basilar membrane vibration is mechanically tuned to different frequencies along its length. However, this concept has only been demonstrated in regions of the cochlea tuned to frequencies >7 kHz, not in regions sensitive to lower frequencies where human speech is encoded. Here, we overcame historical technical limitations and non-invasively measured sound-induced vibrations at four locations distributed over the apical two turns of the guinea pig cochlea...
April 6, 2017: Journal of Physiology
https://www.readbyqxmd.com/read/28373809/a-child-with-kabuki-syndrome-and-autism-spectrum-disorder
#12
Mehmet Sertçelik, Çağatay Uğur, Aynur Şahin Aközel, Cihat Kağan Gürkan
Kabuki syndrome (KS) is characterized by skeletal abnormalities, short stature, characteristic facial features, postnatal growth delay, and mental retardation. There are only a few case reports that present the coexistence of KS with autism spectrum disorder (ASD) in the literature. Herein we present the case of a boy with KS and ASD and discuss the possible shared etiologies. A 4-year-old boy was brought by his parents with complaints of no speech, hyperactivity, enuresis complex, temper tantrum, self-injury, and harming people or objects...
September 2016: Noro Psikiyatri Arsivi
https://www.readbyqxmd.com/read/28373797/refractory-lesional-parietal-lobe-epilepsy-clinical-electroencephalographic-and-neurodiagnostic-findings
#13
Oğuzhan Kurşun, Hülya Karataş, Neşe Dericioğlu, Serap Saygi
INTRODUCTION: Specialized centers, in the management and surgical treatment of medically refractory epilepsy, emphasize the importance of differentiating the varieties of localization related epilepsies. There has been considerable recent interest in temporal and frontal lobe epileptic syndromes and less attention has been paid to parietal and occipital lobe epilepsies. METHODS: Here we report the clinical, electroencephalographic and neuroimaging characteristics of 46 patients with medically refractory lesional parietal lobe epilepsy who have been followed up for 1-10 years...
September 2016: Noro Psikiyatri Arsivi
https://www.readbyqxmd.com/read/28372120/decision-directed-speech-power-spectral-density-matrix-estimation-for-multichannel-speech-enhancement
#14
Yu Gwang Jin, Jong Won Shin, Nam Soo Kim
In this letter, a multichannel decision-directed approach to estimate the speech power spectral density (PSD) matrix for multichannel speech enhancement is proposed. There have been attempts to build multichannel speech enhancement filters which depend only on the speech and noise PSD matrices, for which the accurate estimate of the clean speech PSD matrix is crucial for a successful noise reduction. In contrast to the maximum likelihood estimator which has been applied conventionally, the proposed decision-directed method is capable of tracking the time-varying speech characteristics more robustly and improves the noise reduction performance under various noise environments...
March 2017: Journal of the Acoustical Society of America
https://www.readbyqxmd.com/read/28372098/listeners-attitudes-toward-accented-talkers-uniquely-predicts-accented-speech-perception
#15
Erin M Ingvalson, Kaitlin L Lansford, Valeriya Federova, Gabriel Fernandez
Listeners' sensitivity to indexical information influences their ability to perceive and remember speech, but it is less clear if listeners' subjective ratings of talker characteristics also impact speech perception ability. The present experiment tested the increase in variance accounted for by listeners' ratings of foreign accented talkers' manner of speaking and of the talkers themselves beyond the variance already accounted for by listeners' age, executive function, and hearing thresholds. Adding listeners' ratings significantly improved model fit, indicating that listeners' subjective experience of talker impacts speech perception accuracy along with objective listener characteristics such as hearing thresholds or executive function...
March 2017: Journal of the Acoustical Society of America
https://www.readbyqxmd.com/read/28372057/a-study-of-voice-production-characteristics-of-astronuat-speech-during-apollo-11-for-speaker-modeling-in-space
#16
Chengzhu Yu, John H L Hansen
Human physiology has evolved to accommodate environmental conditions, including temperature, pressure, and air chemistry unique to Earth. However, the environment in space varies significantly compared to that on Earth and, therefore, variability is expected in astronauts' speech production mechanism. In this study, the variations of astronaut voice characteristics during the NASA Apollo 11 mission are analyzed. Specifically, acoustical features such as fundamental frequency and phoneme formant structure that are closely related to the speech production system are studied...
March 2017: Journal of the Acoustical Society of America
https://www.readbyqxmd.com/read/28372040/acoustic-and-perceptual-speech-characteristics-of-native-mandarin-speakers-with-parkinson-s-disease
#17
Sih-Chiao Hsu, Yishan Jiao, Megan J McAuliffe, Visar Berisha, Ruey-Meei Wu, Erika S Levy
This study examines acoustic features of speech production in speakers of Mandarin with Parkinson's disease (PD) and relates them to intelligibility outcomes. Data from 11 participants with PD and 7 controls are compared on several acoustic measures. In speakers with PD, the strength of association between these measures and intelligibility is investigated. Speakers with PD exhibited significant differences in fundamental frequency, pitch variation, vowel space, and rate relative to controls. However, in contrast to the English studies, speech rate was consistently slow and most strongly correlated with intelligibility...
March 2017: Journal of the Acoustical Society of America
https://www.readbyqxmd.com/read/28353522/effects-of-simulated-hearing-loss-on-bilingual-children-s-consonant-recognition-in-noise
#18
Kanae Nishi, Andrea C Trevino, Lydia Rosado Rogers, Paula García, Stephen T Neely
OBJECTIVE: This study investigated the possible impact of simulated hearing loss on speech perception in Spanish-English bilingual children. To avoid confound between individual differences in hearing-loss configuration and linguistic experience, threshold-elevating noise simulating a mild-to-moderate sloping hearing loss was used with normal-hearing listeners. The hypotheses were that: (1) bilingual children can perform similarly to English-speaking monolingual peers in quiet; (2) for both bilingual and monolingual children, noise and simulated hearing loss would have detrimental impacts consistent with their acoustic characteristics (i...
March 28, 2017: Ear and Hearing
https://www.readbyqxmd.com/read/28351216/self-reported-usage-functional-benefit-and-audiologic-characteristics-of-cochlear-implant-patients-who-use-a-contralateral-hearing-aid
#19
Arlene C Neuman, Susan B Waltzman, William H Shapiro, Jonathan D Neukam, Annette M Zeman, Mario A Svirsky
Ninety-four unilateral CI patients with bimodal listening experience (CI plus HA in contralateral ear) completed a questionnaire that focused on attitudes toward hearing aid use postimplantation, patterns of usage, and perceived bimodal benefits in daily life. Eighty participants continued HA use and 14 discontinued HA use at the time of the questionnaire. Participant responses provided useful information for counseling patients both before and after implantation. The majority of continuing bimodal (CI plus HA) participants reported adapting to using both devices within 3 months and also reported that they heard better bimodally in quiet, noisy, and reverberant conditions...
January 2017: Trends in Hearing
https://www.readbyqxmd.com/read/28344653/characterization-of-a-de-novo-ssmc-17-detected-in-a-girl-with-developmental-delay-and-dysmorphic-features
#20
Lana Stavber, Sara Bertok, Jernej Kovač, Marija Volk, Luca Lovrečić, Tadej Battelino, Tinka Hovnik
BACKGROUND: The majority of small supernumerary marker chromosome cases arise de novo and their frequency in newborns is 0.04%. We report on a girl with developmental delay and dysmorphic features with a non-mosaic de novo sSMC that originated from the pericentric region of q arm in chromosome 17. CASE PRESENTATION: The girl presented with developmental delay, speech delay, myopia, mild muscle hypotonia, hypoplasia of orbicular muscle, poor concentration, and hyperactivity...
2017: Molecular Cytogenetics
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