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https://www.readbyqxmd.com/read/28943413/the-cortical-dynamics-of-speaking-lexical-and-phonological-knowledge-simultaneously-recruit-the-frontal-and-temporal-cortex-within-200%C3%A2-ms
#1
Kristof Strijkers, Albert Costa, Friedemann Pulvermüller
Language production models typically assume that retrieving a word for articulation is a sequential process with substantial functional delays between conceptual, lexical, phonological and motor processing, respectively. Nevertheless, explicit evidence contrasting the spatiotemporal dynamics between different word production components is scarce. Here, using anatomically constrained magnetoencephalography during overt meaningful speech production, we explore the speed with which lexico-semantic versus acoustic-articulatory information of a to-be-uttered word become first neurophysiologically manifest in the cerebral cortex...
September 21, 2017: NeuroImage
https://www.readbyqxmd.com/read/28942966/haploinsufficiency-of-the-chromatin-remodeler-bptf-causes-syndromic-developmental-and-speech-delay-postnatal-microcephaly-and-dysmorphic-features
#2
Paweł Stankiewicz, Tahir N Khan, Przemyslaw Szafranski, Leah Slattery, Haley Streff, Francesco Vetrini, Jonathan A Bernstein, Chester W Brown, Jill A Rosenfeld, Surya Rednam, Sarah Scollon, Katie L Bergstrom, Donald W Parsons, Sharon E Plon, Marta W Vieira, Caio R D C Quaio, Wagner A R Baratela, Johanna C Acosta Guio, Ruth Armstrong, Sarju G Mehta, Patrick Rump, Rolph Pfundt, Raymond Lewandowski, Erica M Fernandes, Deepali N Shinde, Sha Tang, Juliane Hoyer, Christiane Zweier, André Reis, Carlos A Bacino, Rui Xiao, Amy M Breman, Janice L Smith, Nicholas Katsanis, Bret Bostwick, Bernt Popp, Erica E Davis, Yaping Yang
Bromodomain PHD finger transcription factor (BPTF) is the largest subunit of nucleosome remodeling factor (NURF), a member of the ISWI chromatin-remodeling complex. However, the clinical consequences of disruption of this complex remain largely uncharacterized. BPTF is required for anterior-posterior axis formation of the mouse embryo and was shown to promote posterior neuroectodermal fate by enhancing Smad2-activated wnt8 expression in zebrafish. Here, we report eight loss-of-function and two missense variants (eight de novo and two of unknown origin) in BPTF on 17q24...
September 19, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28938332/mandibular-condyle-reconstruction-with-fibula-free-tissue-transfer-the-role-of-the-masseter-muscle
#3
Andreas Gravvanis, Dimitrios Anterriotis, Despoina Kakagia
BACKGROUND: Free fibula flap is an option for primary restoration after disarticulation mandibular resection, though literature on technique refinements is scarce. The authors hypothesized that inset of the masseter, the key mandibular elevator muscle, at the reconstructed mandible may optimize functional recovery. METHODS: All patients undergoing reconstruction of mandibulectomy-condylectomy defect (January 2009 to January 2014) by means of a fibular flap were prospectively studied...
September 21, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28929069/our-experience-of-treating-wide-spectrum-of-external-ear-canal-atresia-of-different-etiologies-in-pediatric-patients
#4
Kranti Bhavana
External auditory canal atresia (EACA) is a common otologic condition. Etiology can vary from congenital to acquired causes. It causes considerable difficulty to the patient. Bilateral ear canal atresia in children can lead to speech delays due to hearing impairment caused by this condition. Though easily diagnosed it is one of the most difficult conditions to treat. Acquired conditions can affect any age group. Restenosis following treatment is very common. This article focuses on the treatment of EACA due to different etiologies and emphasizes on special points of surgical treatment and follow up...
September 2017: Indian Journal of Otolaryngology and Head and Neck Surgery
https://www.readbyqxmd.com/read/28925814/evaluation-of-timely-pediatric-cochlear-implant-care-throughout-europe-is-european-cochlear-implantation-care-according-to-guidelines
#5
Hanneke Bruijnzeel, Aren Bezdjian, Anke Lesinski-Schiedat, Angelika Illg, Konstance Tzifa, Luisa Monteiro, Antonio Della Volpe, Wilko Grolman, Vedat Topsakal
OBJECTIVES: International guidelines indicate that children with profound hearing loss should receive a cochlear implant (CI) soon after diagnosis in order to optimize speech and language rehabilitation. Although prompt rehabilitation is encouraged by current guidelines, delays in cochlear implantation are still present. This study investigated whether European countries establish timely pediatric CI care based on epidemiological, commercial, and clinical data. METHODS: An estimation of the number of pediatric CI candidates in European countries was performed and compared to epidemiological (Euro-CIU), commercial (Cochlear(®)), and clinical (institutional) age-at-implantation data...
September 19, 2017: Cochlear Implants International
https://www.readbyqxmd.com/read/28917133/waiting-for-lexical-access-cochlear-implants-or-severely-degraded-input-lead-listeners-to-process-speech-less-incrementally
#6
Bob McMurray, Ashley Farris-Trimble, Hannah Rigler
Spoken language unfolds over time. Consequently, there are brief periods of ambiguity, when incomplete input can match many possible words. Typical listeners solve this problem by immediately activating multiple candidates which compete for recognition. In two experiments using the visual world paradigm, we examined real-time lexical competition in prelingually deaf cochlear implant (CI) users, and normal hearing (NH) adults listening to severely degraded speech. In Experiment 1, adolescent CI users and NH controls matched spoken words to arrays of pictures including pictures of the target word and phonological competitors...
December 2017: Cognition
https://www.readbyqxmd.com/read/28912834/molecular-and-clinical-characterization-of-new-patient-with-1-08%C3%A2-mb-deletion-in-10p15-3-region
#7
Anna Poluha, Joanna Bernaciak, Ilona Jaszczuk, Marta Kędzior, Beata Anna Nowakowska
BACKGROUND: Three distinct contiguous gene deletion syndromes are located at 10p chromosomal region. The deletion, involving 10p15.3 region, has been characterized by (DeScipio et al., Am J Med Genet A 158A:2152-61, 2012). However, because of the variation in size of the described deletions and lack of knowledge about the involved genes, the correlation between genotypes and patients' phenotypes remains unknown. CASE PRESENTATION: We describe female patient with de novo 1,08 Mb deletion in 10p15...
2017: Molecular Cytogenetics
https://www.readbyqxmd.com/read/28901405/genotype-phenotype-analysis-in-a-male-patient-with-partial-trisomy-4p-and-monosomy-20q-due-to-maternal-reciprocal-translocation%C3%A2-4-20-a-case-report
#8
Dong Wu, Hui Zhang, Qiaofang Hou, Hongdan Wang, Tao Wang, Shixiu Liao
Translocations are the most frequent structural aberration in the human genome. Carriers of balanced chromosome rearrangement exhibit an increased risk of abortion and/or a chromosomally‑unbalanced child. The present study reported a clinical and cytogenetic analysis of a child who exhibited typical trisomy 4p and monosomy 20q features, including intellectual disability, delayed speech, tall stature, seizures and facial dysmorphism. The karyotype of the proband exhibited 46, XY, add(20) (q13.3). The karyotype of the mother indicated a balanced translocation karyotype: 46, XX, t(4;20) (p15...
August 29, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28898887/angelman-syndrome-due-to-a-maternally-inherited-intragenic-deletion-encompassing-exons-7-and-8-of-the-ube3a-gene
#9
Athina Ververi, Lily Islam, Beverley Bewes, Louise Busby, Caroline Sullivan, Natalie Canham
Angelman syndrome (AS) is characterised by developmental delay, lack of speech, seizures, a characteristic behavioural profile with a happy demeanour, microcephaly, and ataxia. More than two-thirds of cases are due to an approximately 5-Mb interstitial deletion of the imprinted region 15q11.2q13, which is usually de novo. The rest are associated with point mutations in the UBE3A gene, imprinting defects, and paternal uniparental disomy. Small intragenic UBE3A deletions have rarely been described. They are usually maternally inherited, increasing the recurrence risk to 50%, and may be missed by conventional testing (methylation studies and UBE3A gene sequencing)...
September 13, 2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28895707/-juvenile-form-of-sandhoff-disease-first-case-reported-in-argentina
#10
Julia Mugnaini, Marcela Pereyra, Raquel Dodelson de Kremer, Beatriz Gamboni, Carlos E Argaraña, Ana M Oller Ramírez
Sandhoff disease is a neurodegenerative, lysosomal and autosomal recessive disease caused by mutations in the HEXB gene. Three forms are recognized: infantile, juvenile and adult. Previously, an endogamous population in Córdoba, Argentina, was identified with a high incidence of Sandhoff disease, all reported cases were of the infantile type. In this work, we describe a child with the juvenile form of Sandhoff disease, the first case reported in Argentina. The patient is a 7-year-old boy presenting with ataxia, speech disturbances and global developmental delay, symptoms starting at the age of 2 years...
October 1, 2017: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/28891669/an-age-related-deficit-in-resolving-interference-evidence-from-speech-perception
#11
Avanti Dey, Mitchell S Sommers, Lynn Hasher
The presence of noise and interfering information can pose major difficulties during speech perception, particularly for older adults. Analogously, interference from similar representations during retrieval is a major cause of age-related memory failures. To demonstrate a suppression mechanism that underlies such speech and memory difficulties, we tested the hypothesis that interference between targets and competitors is resolved by suppressing competitors, thereby rendering them less intelligible in noise...
September 2017: Psychology and Aging
https://www.readbyqxmd.com/read/28888754/effect-of-antioxidant-supplementation-on-the-auditory-threshold-in-sensorineural-hearing-loss-a-meta-analysis
#12
Maria Eduarda Di Cavalcanti Alves de Souza, Klinger Vagner Teixeira da Costa, Paulo Augusto Vitorino, Nassib Bezerra Bueno, Pedro de Lemos Menezes
INTRODUCTION: Hearing loss is conceptualized as any impairment of the ability to hear and/or detect speech or environment sounds, regardless of cause, type, or degree. It may occur at different stages of life; during pregnancy or childbirth, in childhood, adulthood or old age. It should be noted that aging is the most common cause of sensorineural hearing loss followed by noise-induced hearing loss, and both are closely related to the formation of reactive oxygen species. Dietary antioxidant supplementation has been employed as a therapeutic strategy to prevent and/or delay the risks of major human diseases...
August 26, 2017: Brazilian Journal of Otorhinolaryngology
https://www.readbyqxmd.com/read/28883776/receptive-vocabulary-and-cognition-of-elderly-people-in-institutional-care
#13
Amela Ibrahimagic, Lejla Junuzovic Zunic, Omer C Ibrahimagic, Dzevdet Smajlovic, Mirsada Rasidovic
INTRODUCTION: Basic cognitive functions such as: alertness, working memory, long term memory and perception, as well as higher levels of cognitive functions like: speech and language, decision-making and executive functions are affected by aging processes. Relations between the receptive vocabulary and cognitive functioning, and the manifestation of differences between populations of elderly people based on the primary disease is in the focus of this study. AIM: To examine receptive vocabulary and cognition of elderly people with: verified stroke, dementia, verified stroke and dementia, and without the manifested brain disease...
June 2017: Materia Socio-medica
https://www.readbyqxmd.com/read/28875353/does-shape-affect-function-articulatory-skills-in-babbling-of-infants-with-deformational-plagiocephaly
#14
Christian Linz, Tilmann Schweitzer, Lisa C Brenner, Felix Kunz, Philipp Meyer-Marcotty, Kathleen Wermke
PURPOSE: The purpose of this study was to quantitatively analyse pre-speech/early language skills in healthy full-term infants with moderate or severe deformational plagiocephaly (DP) and in infants without any skull asymmetry. METHODS: At 6 and 12 months, 51 children with DP (41 moderate, 10 severe cases) were studied, along with 15 infants serving as control. Deformational plagiocephaly (DP) was objectively determined based on cranial vault asymmetry (CVA) using 3D stereophotogrammetry (3dMDhead System® and Analytics 4...
September 5, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28870139/the-role-of-segmental-and-durational-cues-in-the-processing-of-reduced-words
#15
Marco van de Ven, Mirjam Ernestus
In natural conversations, words are generally shorter and they often lack segments. It is unclear to what extent such durational and segmental reductions affect word recognition. The present study investigates to what extent reduction in the initial syllable hinders word comprehension, which types of segments listeners mostly rely on, and whether listeners use word duration as a cue in word recognition. We conducted three experiments in Dutch, in which we adapted the gating paradigm to study the comprehension of spontaneously uttered conversational speech by aligning the gates with the edges of consonant clusters or vowels...
September 1, 2017: Language and Speech
https://www.readbyqxmd.com/read/28866611/missense-variants-in-the-chromatin-remodeler-chd1-are-associated-with-neurodevelopmental-disability
#16
Genay O Pilarowski, Hilary J Vernon, Carolyn D Applegate, Leandros Boukas, Megan T Cho, Christina A Gurnett, Paul J Benke, Erin Beaver, Jennifer M Heeley, Livija Medne, Ian D Krantz, Meron Azage, Dmitriy Niyazov, Lindsay B Henderson, Ingrid M Wentzensen, Berivan Baskin, Maria J Guillen Sacoto, Gregory D Bowman, Hans T Bjornsson
BACKGROUND: The list of Mendelian disorders of the epigenetic machinery has expanded rapidly during the last 5 years. A few missense variants in the chromatin remodeler CHD1 have been found in several large-scale sequencing efforts focused on uncovering the genetic aetiology of autism. OBJECTIVES: To explore whether variants in CHD1 are associated with a human phenotype. METHODS: We used GeneMatcher to identify other physicians caring for patients with variants in CHD1...
September 2, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28863583/speech-rate-rate-matching-and-intelligibility-in-early-implanted-cochlear-implant-users
#17
Valerie Freeman, David B Pisoni
An important speech-language outcome for deaf people with cochlear implants is speech intelligibility-how well their speech is understood by others, which also affects social functioning. Beyond simply uttering recognizable words, other speech-language skills may affect communicative competence, including rate-matching or converging toward interlocutors' speech rates. This initial report examines speech rate-matching and its relations to intelligibility in 91 prelingually deaf cochlear implant users and 93 typically hearing peers age 3 to 27 years...
August 2017: Journal of the Acoustical Society of America
https://www.readbyqxmd.com/read/28863034/the-effect-of-signal-to-noise-ratio-on-cortical-auditory-evoked-potentials-elicited-to-speech-stimuli-in-infants-and-adults-with-normal-hearing
#18
Susan A Small, Mridula Sharma, M Bradford, Pragati Rao Mandikal Vasuki
OBJECTIVES: Identification and discrimination of speech sounds in noisy environments is challenging for adults and even more so for infants and children. Behavioral studies consistently report maturational differences in the influence that signal to noise ratio (SNR) and masker type have on speech processing; however, few studies have investigated the neural mechanisms underlying these differences at the level of the auditory cortex. In the present study, we investigated the effect of different SNRs on speech-evoked cortical auditory-evoked potentials (CAEPs) in infants and adults with normal hearing...
August 31, 2017: Ear and Hearing
https://www.readbyqxmd.com/read/28856607/natural-history-of-aromatic-l-amino-acid-decarboxylase-deficiency-in-taiwan
#19
Wuh-Liang Hwu, Yin-Hsiu Chien, Ni-Chung Lee, Mei-Hsin Li
OBJECTIVES: Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare inherited disorder of monoamine neurotransmitter synthesis; this deficiency leads to psychomotor delay, hypotonia, oculogyric crises, dystonia, and extraneurological symptoms. This study aimed to provide further insight into the clinical course of AADC deficiency in Taiwan. PATIENTS AND METHODS: We present a retrospective, descriptive, single-center study of 37 children with a confirmed diagnosis of AADC deficiency...
August 31, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28851325/novel-foxg1-mutations-in-chinese-patients-with-rett-syndrome-or-rett-like-mental-retardation
#20
Qingping Zhang, Jiaping Wang, Jiarui Li, Xinhua Bao, Ying Zhao, Xiaoying Zhang, Liping Wei, Xiru Wu
BACKGROUND: We aimed to delineate clinical phenotypes associated with FOXG1 mutations in Chinese patients with Rett syndrome (RTT) or RTT-like mental retardation (MR). METHODS: Four hundred and fifty-one patients were recruited, including 418 with RTT and 33 with RTT-like MR. Gene mutations were identified by a target capture method and verified by Sanger sequencing. RESULTS: Four FOXG1 mutations were detected in four patients (three with RTT and one with RTT-like MR), including one previously described mutation and three novel mutations...
August 29, 2017: BMC Medical Genetics
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