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https://www.readbyqxmd.com/read/28636205/progressive-scar14-with-unclear-speech-developmental-delay-tremor-and-behavioral-problems-caused-by-a-homozygous-deletion-of-the-sptbn2-pleckstrin-homology-domain
#1
Esra Yıldız Bölükbaşı, Muhammad Afzal, Sara Mumtaz, Nafees Ahmad, Sajid Malik, Aslıhan Tolun
We report on nine members of a consanguineous Pakistani family with primary presentation of intellectual disability, developmental delay, limb and gait ataxia, behavioral and speech problems, and tremor. By linkage mapping and exome sequencing we identified novel homozygous splicing variant c.6375-1G>C in SPTBN2. To date, only two other SPTBN2 mutations with recessive pattern of inheritance causing SCAR14 (spinocerebellar ataxia, autosomal recessive 14) that manifest with developmental ataxia and cognitive impairment, or cerebellar ataxia, mental retardation, and pyramidal signs have been reported...
June 21, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28635076/supernumeraries-in-nicolaides-baraitser-syndrome
#2
Bouthayna Al-Tamimi, Stefan Abela, Huw G Jeremiah, Robert D Evans
BACKGROUND: Nicolaides-Baraitser Syndrome(NCBRS) is an extremely rare condition which has been reported in only a few cases. NCBRS is a distinct clinical condition with typical clinical features of pre- and post-natal global developmental delay, impaired speech, and seizures. Microcephaly, sparse hair, anteverted alae nasi, undefined philtrum, prominence of distal phalanges and interphalangeal joints, and short metacarpals are also typical of NCBRS. CASE REPORT: There are no reported cases in the literature of patients with NCBRS presenting with multiple dental impactions, and to the authors' knowledge, this is the 28th fully documented case of NCBRS and only 75 cases identified as potentially having NCBRS...
June 21, 2017: International Journal of Paediatric Dentistry
https://www.readbyqxmd.com/read/28632327/photosensitivity-is-an-early-marker-of-neuronal-ceroid-lipofuscinosis-type-2-disease
#3
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/28632166/dual-channel-cosine-function-based-itd-estimation-for-robust-speech-separation
#4
Xuliang Li, Zhaogui Ding, Weifeng Li, Qingmin Liao
In speech separation tasks, many separation methods have the limitation that the microphones are closely spaced, which means that these methods are unprevailing for phase wrap-around. In this paper, we present a novel speech separation scheme by using two microphones that does not have this restriction. The technique utilizes the estimation of interaural time difference (ITD) statistics and binary time-frequency mask for the separation of mixed speech sources. The novelties of the paper consist in: (1) the extended application of delay-and-sum beamforming (DSB) and cosine function for ITD calculation; and (2) the clarification of the connection between ideal binary mask and DSB amplitude ratio...
June 20, 2017: Sensors
https://www.readbyqxmd.com/read/28624645/cingulo-opercular-activity-affects-incidental-memory-encoding-for-speech-in-noise
#5
Kenneth I Vaden, Susan Teubner-Rhodes, Jayne B Ahlstrom, Judy R Dubno, Mark A Eckert
Correctly understood speech in difficult listening conditions is often more difficult to remember. A long-standing hypothesis for this observation is that the engagement of cognitive resources to aid speech understanding can limit resources available for memory encoding. This hypothesis is consistent with evidence that speech presented in difficult conditions typically elicits greater activity throughout cingulo-opercular regions of frontal cortex that are proposed to optimize task performance through adaptive control of behavior and tonic attention...
June 14, 2017: NeuroImage
https://www.readbyqxmd.com/read/28621001/early-vocabulary-development-in-children-with-bilateral-cochlear-implants
#6
Taina Välimaa, Sari Kunnari, Päivi Laukkanen-Nevala, Eila Lonka
BACKGROUND: Children with unilateral cochlear implants (CIs) may have delayed vocabulary development for an extended period after implantation. Bilateral cochlear implantation is reported to be associated with improved sound localization and enhanced speech perception in noise. This study proposed that bilateral implantation might also promote early vocabulary development. Knowledge regarding vocabulary growth and composition in children with bilateral CIs and factors associated with it may lead to improvements in the content of early speech and language intervention and family counselling...
June 16, 2017: International Journal of Language & Communication Disorders
https://www.readbyqxmd.com/read/28618812/auditory-feature-representation-using-convolutional-restricted-boltzmann-machine-and-teager-energy-operator-for-speech-recognition
#7
Hardik B Sailor, Hemant A Patil
In this letter, authors propose an auditory feature representation technique with the filterbank learned using an annealing dropout convolutional restricted Boltzmann machine (ConvRBM) and noise-robust energy estimation using the Teager energy operator (TEO). TEO is applied on each subband of ConvRBM filterbank and pooled later to get the short-term spectral features. Experiments on AURORA 4 database show that the proposed features perform better than the Mel filterbank features. The relative improvement of 2...
June 2017: Journal of the Acoustical Society of America
https://www.readbyqxmd.com/read/28618809/binaural-sensitivity-in-children-who-use-bilateral-cochlear-implants
#8
Erica Ehlers, Matthew J Goupell, Yi Zheng, Shelly P Godar, Ruth Y Litovsky
Children who are deaf and receive bilateral cochlear implants (BiCIs) perform better on spatial hearing tasks using bilateral rather than unilateral inputs; however, they underperform relative to normal-hearing (NH) peers. This gap in performance is multi-factorial, including the inability of speech processors to reliably deliver binaural cues. Although much is known regarding binaural sensitivity of adults with BiCIs, less is known about how the development of binaural sensitivity in children with BiCIs compared to NH children...
June 2017: Journal of the Acoustical Society of America
https://www.readbyqxmd.com/read/28616150/pitch-perception-in-tone-language-speaking-adults-with-and-without-autism-spectrum-disorders
#9
Stella T T Cheng, Gary Y H Lam, Carol K S To
Enhanced low-level pitch perception has been universally reported in autism spectrum disorders (ASD). This study examined whether tone language speakers with ASD exhibit this advantage. The pitch perception skill of 20 Cantonese-speaking adults with ASD was compared with that of 20 neurotypical individuals. Participants discriminated pairs of real syllable, pseudo-syllable (syllables that do not conform the phonotactic rules or are accidental gaps), and non-speech (syllables with attenuated high-frequency segmental content) stimuli contrasting pitch levels...
May 2017: I-Perception
https://www.readbyqxmd.com/read/28604578/long-term-outcomes-of-cochlear-implantation-in-children-with-congenital-cytomegalovirus-infection
#10
Haruo Yoshida, Haruo Takahashi, Yukihiko Kanda, Kyoko Kitaoka, Minoru Hara
OBJECTIVE: To investigate the role of the developmental delay often observed in children with congenital cytomegalovirus (CMV) infection on the improvement of language understanding after cochlear implantation (CI). STUDY DESIGN: Retrospective chart review. PATIENTS: Sixteen children with severe and/or profound hearing loss due to congenital CMV infection (CMV group) and 107 congenitally deaf children (168 ears) without CMV infection as the cause of deafness (non-CMV group)...
June 9, 2017: Otology & Neurotology
https://www.readbyqxmd.com/read/28599537/using-envelope-modulation-to-explain-speech-intelligibility-in-the-presence-of-a-single-reflection
#11
Ramesh Kumar Muralimanohar, James M Kates, Kathryn H Arehart
A single reflection is the simplest simulation of reverberation and provides insights into more complex scenarios of listening in rooms. This paper presents an analysis of the effects of a single reflection as its delay and intensity are systematically varied. The changes to the envelope modulations are analyzed using not only the traditional within-auditory-band analysis approach but also an across-band spectro-temporal analysis using cepstral correlation coefficients. The use of an auditory model allowed the extension of the simulations to include sensorineural hearing loss...
May 2017: Journal of the Acoustical Society of America
https://www.readbyqxmd.com/read/28590881/effects-of-irrelevant-background-speech-on-eye-movements-during-reading
#12
Guoli Yan, Zhu Meng, Nina Liu, Liyuan He, Kevin B Paterson
The irrelevant speech effect (ISE) refers to the impairment of visual information processing by background speech. Prior research on the ISE has focused on short-term memory for visually-presented word lists. The present research extends this work by using measurements of eye movements to examine effects of irrelevant background speech during Chinese reading. This enabled an examination of the ISE for a language in which access to semantic representations is not strongly mediated by phonology. Participants read sentences while exposed to meaningful irrelevant speech, meaningless speech (scrambled meaningful speech) or silence...
June 7, 2017: Quarterly Journal of Experimental Psychology: QJEP
https://www.readbyqxmd.com/read/28586433/speech-intelligibility-and-psychosocial-functioning-in-deaf-children-and-teens-with-cochlear-implants
#13
Valerie Freeman, David B Pisoni, William G Kronenberger, Irina Castellanos
Deaf children with cochlear implants (CIs) are at risk for psychosocial adjustment problems, possibly due to delayed speech-language skills. This study investigated associations between a core component of spoken-language ability-speech intelligibility-and the psychosocial development of prelingually deaf CI users. Audio-transcription measures of speech intelligibility and parent reports of psychosocial behaviors were obtained for two age groups (preschool, school-age/teen). CI users in both age groups scored more poorly than typically hearing peers on speech intelligibility and several psychosocial scales...
July 1, 2017: Journal of Deaf Studies and Deaf Education
https://www.readbyqxmd.com/read/28582287/does-cleft-palate-width-correlate-with-veau-classification-and-outcome
#14
Robin Wu, Shayan Cheraghlou, Yassmin Parsaei, Roberto Travieso, Derek M Steinbacher
PURPOSE: Wider cleft palates are thought to be associated with increased complications and poorer outcomes following cleft palate repair. Objective cleft palate photographic measurement and assessment of complications have not been previously performed. The purpose of this study is to quantitatively characterize a series of cleft palate dimensions and to investigate possible correlations with Veau classification and intra-, peri-, and postoperative outcomes. METHODS: The analytic sample included primary cleft palate repairs performed by the senior author over a 2-year period...
June 2, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28576131/analysis-of-31-year-old-patient-with-syngap1-gene-defect-points-to-importance-of-variants-in-broader-splice-regions-and-reveals-developmental-trajectory-of-syngap1-associated-phenotype-case-report
#15
Darina Prchalova, Marketa Havlovicova, Katalin Sterbova, Viktor Stranecky, Miroslava Hancarova, Zdenek Sedlacek
BACKGROUND: Whole exome sequencing is a powerful tool for the analysis of genetically heterogeneous conditions. The prioritization of variants identified often focuses on nonsense, frameshift and canonical splice site mutations, and highly deleterious missense variants, although other defects can also play a role. The definition of the phenotype range and course of rare genetic conditions requires long-term clinical follow-up of patients. CASE PRESENTATION: We report an adult female patient with severe intellectual disability, severe speech delay, epilepsy, autistic features, aggressiveness, sleep problems, broad-based clumsy gait and constipation...
June 2, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28573701/molecular-and-clinical-delineation-of-2p15p16-1-microdeletion-syndrome
#16
Jonathan Lévy, Aurélie Coussement, Céline Dupont, Fabien Guimiot, Clarisse Baumann, Géraldine Viot, Sandrine Passemard, Yline Capri, Séverine Drunat, Alain Verloes, Eva Pipiras, Brigitte Benzacken, Jean-Michel Dupont, Anne-Claude Tabet
Interstitial 2p15p16.1 microdeletion is a rare chromosomal syndrome previously reported in 33 patients. It is characterized by intellectual disability, developmental delay, autism spectrum disorders, microcephaly, short stature, dysmorphic features, and multiple congenital organ defects. It is defined as a contiguous gene syndrome and two critical regions have been proposed at 2p15 and 2p16.1 loci. Nevertheless, patients with deletion of both critical regions shared similar features of the phenotype and the correlation genotype-phenotype is still unclear...
June 1, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28562251/reducing-information-s-speed-improves-verbal-cognition-and-behavior-in-autism-a-2-cases-report
#17
Carole Tardif, Laura Latzko, Thomas Arciszewski, Bruno Gepner
According to the temporal theory of autism spectrum disorders (ASDs), audiovisual changes in environment, particularly those linked to facial and verbal language, are often too fast to be faced, perceived, and/or interpreted online by many children with ASD, which could help explain their facial, verbal, and/or socioemotional interaction impairments. Our goal here was to test for the first time the impact of slowed-down audiovisual information on verbal cognition and behavior in 2 boys with ASD and verbal delay...
May 3, 2017: Pediatrics
https://www.readbyqxmd.com/read/28560735/impact-of-the-swedish-national-stroke-campaign-on-stroke-awareness
#18
A Nordanstig, K Asplund, B Norrving, N Wahlgren, P Wester, L Rosengren
BACKGROUND: Time delay from stroke onset to arrival in hospital is an important obstacle to widespread reperfusion therapy. To increase knowledge about stroke, and potentially decrease this delay, a 27-month national public information campaign was carried out in Sweden. AIMS: To assess the effects of a national stroke campaign in Sweden. METHODS: The variables used to measure campaign effects were knowledge of the AKUT test [a Swedish equivalent of the FAST (Face-Arm-Speech-Time)] test and intent to call 112 (emergency telephone number) ...
May 31, 2017: Acta Neurologica Scandinavica
https://www.readbyqxmd.com/read/28558378/pial-arteriovenous-fistula-and-capillary-malformation-arteriovenous-malformation-associated-with-rasa1-mutation-2-pediatric-cases-with-successful-surgical-management
#19
A Jessey Chugh, Asim Shahid, Sunil Manjila, Deepak Gulati, Nicholas C Bambakidis
We present case reports of 2 pediatric patients who were both found to have pial arteriovenous fistulas (AVFs) with subsequent genetic analysis revealing mutations in the RASA1 gene. Considering their family history of distinct cutaneous lesions, these mutations were likely inherited as opposed to de novo mutations. Patient 1 had large capillary malformations on the left side of the face and neck, associated with macrocephaly, and presented at the age of 32 months with speech delay, right-sided weakness, and focal seizures involving the right side of the body...
May 31, 2017: Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28540525/identification-of-22q11-2-deletion-syndrome-via-newborn-screening-for-severe-combined-immunodeficiency
#20
Jessica C Barry, Terrence Blaine Crowley, Soma Jyonouchi, Jennifer Heimall, Elaine H Zackai, Kathleen E Sullivan, Donna M McDonald-McGinn
PURPOSE: Chromosome 22q11.2 deletion syndrome (22q11.2DS), the most common cause of DiGeorge syndrome, is quite variable. Neonatal diagnosis traditionally relies on recognition of classic features and cytogenetic testing, but many patients come to attention only following identification of later onset conditions, such as hypernasal speech due to palatal insufficiency and developmental and behavioral differences including speech delay, autism, and learning disabilities that would benefit from early interventions...
May 24, 2017: Journal of Clinical Immunology
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