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https://www.readbyqxmd.com/read/28328127/partial-tetrasomy-11q-resulting-from-an-intrachromosomal-triplication-of-a-22-mb-region-of-chromosome-11
#1
Mariana Kekis, Carol Deeg, Sayaka Hashimoto, Aimee McKinney, Linda Erdman, Cecelia Green-Geer, Christine Shuss, Scott Hickey, Caroline Astbury, Robert E Pyatt
Intrachromosomal triplications are complex chromosomal rearrangements which arise during meiosis or mitosis and lead to a tetrasomic dose of the affected genomic regions. We describe a female patient harboring an intrachromosomal triplication who presented to the Genetics clinic with dysmorphic features, including telecanthus, flat facial profile, and prognathism, short stature, widely spaced nipples, multiple allergy complaints, loose bowel movements, and mild speech delay. Microarray analysis showed a copy number gain of a 22...
April 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28318193/-neuropsychiatric-phenotype-of-angelman-syndrome-and-clinical-care-report-of-seven-cases
#2
Juan E Cote-Orozco, Paola Del Rocío Mera-Solarte, Eugenia Espinosa-García
Angelman syndrome is a neurogenetic disorder caused by a lack or reduction of expression of UBE3A located within chromosome 15, which codes for ubiquitin protein ligase E3A, which has a key role in synaptic development and neural plasticity. Its main features are developmental delay/intellectual disability, lack of speech, a characteristic behavioural profile, and epilepsy. We describe clinical features and management of seven cases with 15q11-13 deletion. Due to their life expectancy, knowing and managing its comorbidities is crucial to improve their quality of life...
April 1, 2017: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/28300956/hearing-and-speech-sciences-in-educational-environment-mapping-in-brazil-education-work-and-professional-experience
#3
Letícia Corrêa Celeste, Graziela Zanoni, Bianca Queiroga, Luciana Mendonça Alves
Purpose: To map the profile of Brazilian Speech Therapists who report acting in Educational Speech Therapy, with regard to aspects related to training, performance and professional experience. Methods: Retrospective study, based on secondary database analysis of the Federal Council of Hearing and Speech Sciences on the questionnaires reporting acting with Educational Environment. Results: 312 questionnaires were completed, of which 93.3% by women aged 30-39 years...
March 9, 2017: CoDAS
https://www.readbyqxmd.com/read/28289749/motor-speech-phenotypes-of-frontotemporal-dementia-primary-progressive-aphasia-and-progressive-apraxia-of-speech
#4
Matthew L Poole, Amy Brodtmann, David Darby, Adam P Vogel
Purpose: Our purpose was to create a comprehensive review of speech impairment in frontotemporal dementia (FTD), primary progressive aphasia (PPA), and progressive apraxia of speech in order to identify the most effective measures for diagnosis and monitoring, and to elucidate associations between speech and neuroimaging. Method: Speech and neuroimaging data described in studies of FTD and PPA were systematically reviewed. A meta-analysis was conducted for speech measures that were used consistently in multiple studies...
March 13, 2017: Journal of Speech, Language, and Hearing Research: JSLHR
https://www.readbyqxmd.com/read/28272743/functional-outcomes-in-children-and-young-people-with-dyskinetic-cerebral-palsy
#5
Elegast Monbaliu, Mary-Grace De La Peña, Els Ortibus, Guy Molenaers, Jan Deklerck, Hilde Feys
AIM: This cross-sectional study aimed to map the functional profile of individuals with dyskinetic cerebral palsy (CP), to determine interrelationships between the functional classification systems, and to investigate the relationship of functional abilities with dystonia and choreoathetosis severity. METHODS: Fifty-five children (<15y) and young people (15-22y) (30 males, 25 females; mean age 14y 6mo, standard deviation 4y 1mo) with dyskinetic CP were assessed using the Gross Motor Function Classification System (GMFCS), Manual Ability Classification System (MACS), Communication Function Classification System (CFCS), Eating and Drinking Ability Classification System (EDACS), and Viking Speech Scale (VSS), as well as the Dyskinesia Impairment Scale...
March 8, 2017: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/28271322/patient-benefit-from-cochlear-implantation-in-single-sided-deafness-a-1-year-follow-up
#6
Julia Louza, John-Martin Hempel, Eike Krause, Alexander Berghaus, Joachim Müller, Thomas Braun
The objective of the study was to evaluate the quality of life and benefit in patients with single-side deafness before and 1 year after cochlear implantation. In a prospective observational study design, ten adult patients with single-sided deafness undergoing cochlear implantation were included. All patients had on the implantation side no speech discrimination with normal hearing aids. The contralateral side was normal or marginal hearing loss. For determining the subject benefit from cochlear implantation, each patient answered standardized questionnaires directly before implantation and 1 year after...
March 7, 2017: European Archives of Oto-rhino-laryngology
https://www.readbyqxmd.com/read/28270784/auditory-and-non-auditory-contributions-for-unaided-speech-recognition-in-noise-as-a-function-of-hearing-aid-use
#7
Anja Gieseler, Maike A S Tahden, Christiane M Thiel, Kirsten C Wagener, Markus Meis, Hans Colonius
Differences in understanding speech in noise among hearing-impaired individuals cannot be explained entirely by hearing thresholds alone, suggesting the contribution of other factors beyond standard auditory ones as derived from the audiogram. This paper reports two analyses addressing individual differences in the explanation of unaided speech-in-noise performance among n = 438 elderly hearing-impaired listeners (mean = 71.1 ± 5.8 years). The main analysis was designed to identify clinically relevant auditory and non-auditory measures for speech-in-noise prediction using auditory (audiogram, categorical loudness scaling) and cognitive tests (verbal-intelligence test, screening test of dementia), as well as questionnaires assessing various self-reported measures (health status, socio-economic status, and subjective hearing problems)...
2017: Frontiers in Psychology
https://www.readbyqxmd.com/read/28268636/neural-representation-of-different-mandarin-tones-in-the-inferior-colliculus-of-the-guinea-pig
#8
Fei Peng, Nan Xia, Xing Wang, Xiao L Zheng, Yi Zhou, Xing Y Fan, Wen S Hou
Mandarin speech has four different tones and the coding mechanism underlying tone identification still remain unclear. Here in the inferior colliculus (IC) of anesthetized guinea pigs, we recorded single neuron activities to one word with four tones using tungsten electrode. Peri-stimulus time histograms (PSTHs) and inter-spike-interval (ISI) were used to evaluate the neural response. The results showed that PSTHs grouped into frequency band reflected the spectrotemporal patterns of different tones; average population PSTHs matched envelops of different tones; and the peaks of histogram of ISIs in three time segments exhibited a displacement which reflected the profile of fundamental frequency (F0)...
August 2016: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
https://www.readbyqxmd.com/read/28256107/peripheral-and-central-contribution-to-the-difficulty-of-speech-in-noise-perception-in-dyslexic-children
#9
Axelle Calcus, Paul Deltenre, Cécile Colin, Régine Kolinsky
Noise typically induces both peripheral and central masking of an auditory target. Whereas the idea that a deficit of speech in noise perception is inherent to dyslexia is still debated, most studies have actually focused on the peripheral contribution to the dyslexics' difficulties of perceiving speech in noise. Here, we investigated the respective contribution of both peripheral and central noise in three groups of children: dyslexic, chronological age matched controls (CA), and reading-level matched controls (RL)...
March 2, 2017: Developmental Science
https://www.readbyqxmd.com/read/28254454/developmental-phonagnosia-linking-neural-mechanisms-with-the-behavioural-phenotype
#10
Claudia Roswandowitz, Stefanie Schelinski, Katharina von Kriegstein
Human voice recognition is critical for many aspects of social communication. Recently, a rare disorder, developmental phonagnosia, which describes the inability to recognise a speaker's voice, has been discovered. The underlying neural mechanisms are unknown. Here, we used two functional magnetic resonance imaging experiments to investigate brain function in two behaviourally well characterised phonagnosia cases, both 32 years old: AS has apperceptive and SP associative phonagnosia. We found distinct malfunctioned brain mechanisms in AS and SP matching their behavioural profiles...
February 22, 2017: NeuroImage
https://www.readbyqxmd.com/read/28252160/the-effects-of-service-delivery-model-and-purchase-price-on-hearing-aid-outcomes-in-older-adults-a-randomized-double-blind-placebo-controlled-clinical-trial
#11
Larry E Humes, Sara E Rogers, Tera M Quigley, Anna K Main, Dana L Kinney, Christine Herring
Objectives: The objectives of this study were to determine efficacy of hearing aids in older adults using audiology best practices, to evaluate the efficacy of an alternative over-the-counter (OTC) intervention, and to examine the influence of purchase price on outcomes for both service-delivery models. Design: The design of this study was a single-site, prospective, double-blind placebo-controlled randomized trial with three parallel branches: (a) audiology best practices (AB), (b) consumer decides OTC model (CD), and (c) placebo devices (P)...
March 2, 2017: American Journal of Audiology
https://www.readbyqxmd.com/read/28250563/specific-learning-disabilities-and-psychiatric-comorbidities-in-school-children-in-south-india
#12
Shailaja Bandla, Gowri Devi Mandadi, Anand Bhogaraju
BACKGROUND: Specific learning disabilities (SLDs) are an important cause of academic underachievement in children and are also associated with comorbidities like attention deficit hyperactivity disorder (ADHD) which further have an impact on the child's education. AIMS: To estimate the prevalence and psychosocial profile and psychiatric comorbidities in children with SLD in two settings, i.e., on special (remedial) education and schools and to compare the findings with normal children...
January 2017: Indian Journal of Psychological Medicine
https://www.readbyqxmd.com/read/28226816/neural-representation-of-different-mandarin-tones-in-the-inferior-colliculus-of-the-guinea-pig
#13
Fei Peng, Nan Xia, Xing Wang, Xiao L Zheng, Yi Zhou, Xing Y Fan, Wen S Hou, Fei Peng, Nan Xia, Xing Wang, Xiao L Zheng, Yi Zhou, Xing Y Fan, Wen S Hou, Xing Y Fan, Nan Xia, Wen S Hou, Xing Wang, Yi Zhou, Fei Peng, Xiao L Zheng
Mandarin speech has four different tones and the coding mechanism underlying tone identification still remain unclear. Here in the inferior colliculus (IC) of anesthetized guinea pigs, we recorded single neuron activities to one word with four tones using tungsten electrode. Peri-stimulus time histograms (PSTHs) and inter-spike-interval (ISI) were used to evaluate the neural response. The results showed that PSTHs grouped into frequency band reflected the spectrotemporal patterns of different tones; average population PSTHs matched envelops of different tones; and the peaks of histogram of ISIs in three time segments exhibited a displacement which reflected the profile of fundamental frequency (F0)...
August 2016: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
https://www.readbyqxmd.com/read/28224173/speech-audiometric-assessment-of-informational-masking
#14
S Rählmann, H Meister
BACKGROUND: In communication situations with multiple speakers, speech recognition is adversely affected by energetic masking (EM) and informational masking (IM). IM characterizes masking effects caused by irrelevant information from competing speakers. This work investigates an approach to assess IM based on the Oldenburg Sentence Test (OLSA). Furthermore, the influence of interaural time differences (ITD) and aging effects on IM are considered. MATERIALS AND METHODS: IM was measured by superimposing two sentences from the OLSA...
February 21, 2017: HNO
https://www.readbyqxmd.com/read/28223951/speechreading-in-deaf-adults-with-cochlear-implants-evidence-for-perceptual-compensation
#15
Hannah Pimperton, Amelia Ralph-Lewis, Mairéad MacSweeney
Previous research has provided evidence for a speechreading advantage in congenitally deaf adults compared to hearing adults. A 'perceptual compensation' account of this finding proposes that prolonged early onset deafness leads to a greater reliance on visual, as opposed to auditory, information when perceiving speech which in turn results in superior visual speech perception skills in deaf adults. In the current study we tested whether previous demonstrations of a speechreading advantage for profoundly congenitally deaf adults with hearing aids, or no amplificiation, were also apparent in adults with the same deafness profile but who have experienced greater access to the auditory elements of speech via a cochlear implant (CI)...
2017: Frontiers in Psychology
https://www.readbyqxmd.com/read/28220929/increasing-the-efficiency-on-producing-radiology-reports-for-breast-cancer-diagnosis-by-means-of-structured-reports-a-comparative-study
#16
J Damian Segrelles, Rosana Medina, Ignacio Blanquer, Luis Martí-Bonmatí
BACKGROUND: Radiology reports are commonly written on free-text using voice recognition devices. Structured reports (SR) have a high potential but they are usually considered more difficult to fill-in so their adoption in clinical practice leads to a lower efficiency. However, some studies have demonstrated that in some cases, producing SRs may require shorter time than plain-text ones. This work focuses on the definition and demonstration of a methodology to evaluate the productivity of software tools for producing radiology reports...
February 21, 2017: Methods of Information in Medicine
https://www.readbyqxmd.com/read/28212718/a-speech-and-psychological-profile-of-treatment-seeking-adolescents-who-stutter
#17
Lisa Iverach, Robyn Lowe, Mark Jones, Susan O'Brian, Ross G Menzies, Ann Packman, Mark Onslow
PURPOSE: The purpose of this study was to evaluate the relationship between stuttering severity, psychological functioning, and overall impact of stuttering, in a large sample of adolescents who stutter. METHOD: Participants were 102 adolescents (11-17 years) seeking speech treatment for stuttering, including 86 boys and 16 girls, classified into younger (11-14 years, n=57) and older (15-17 years, n=45) adolescents. Linear regression models were used to evaluate the relationship between speech and psychological variables and overall impact of stuttering...
March 2017: Journal of Fluency Disorders
https://www.readbyqxmd.com/read/28196001/efficacy-of-bone-anchored-hearing-aids-in-single-sided-deafness-a-systematic-review
#18
Gaeun Kim, Hyun Mi Ju, Sun Hee Lee, Hee-Soon Kim, Jeong A Kwon, Young Joon Seo
OBJECTIVES: Bone-anchored hearing aids (BAHAs) have been known to partially restore some of the functions lost in subjects with single-sided deafness (SSD). Our aims in this systemic review were to analyze the present capabilities of BAHAs in the context of SSD, and to evaluate the efficacy of BAHAs in improving speech recognition in noisy conditions, sound localization, and subjective outcomes. DESIGN: A systematic search was undertaken until August 2015 by two independent reviewers, with disagreements resolved by consensus...
April 2017: Otology & Neurotology
https://www.readbyqxmd.com/read/28180184/a-gain-of-function-mutation-in-the-grik2-gene-causes-neurodevelopmental-deficits
#19
Yomayra F Guzmán, Keri Ramsey, Jacob R Stolz, David W Craig, Mathew J Huentelman, Vinodh Narayanan, Geoffrey T Swanson
OBJECTIVE: To identify inherited or de novo mutations associated with a suite of neurodevelopmental abnormalities in a 10-year-old patient displaying ataxia, motor and speech delay, and intellectual disability. METHODS: We performed whole-exome sequencing of the proband and her parents. A pathogenic gene variant was identified as damaging based on sequence conservation, gene function, and association with disorders having similar phenotypic profiles. Functional characterization of the mutated protein was performed in vitro using a heterologous expression system...
February 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28155306/an-audiological-profile-of-patients-infected-with-multi-drug-resistant-tuberculosis-at-a-district-hospital-in-kwazulu-natal
#20
Delicia Appana, Lavanithum Joseph, Jessica Paken
BACKGROUND: The increased incidence of multi-drug-resistant tuberculosis (MDR-TB) and the consequent use of aminoglycosides with their ototoxic potential necessitate a better understanding of the audiological pattern of infected patients. OBJECTIVE: To describe the occurrence and nature of hearing loss in patients with MDR-TB receiving aminoglycosides over a period of 6 months. METHODS: Baseline and five consecutive monthly audiological assessments were conducted on 52 adults at a hospital in KwaZulu-Natal...
November 25, 2016: South African Journal of Communication Disorders. die Suid-Afrikaanse Tydskrif Vir Kommunikasieafwykings
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