keyword
https://read.qxmd.com/read/38535722/evaluating-speaker-listener-cognitive-effort-in-speech-communication-through-brain-to-brain-synchrony-a-pilot-functional-near-infrared-spectroscopy-investigation
#1
JOURNAL ARTICLE
Geoff D Green, Ewa Jacewicz, Hendrik Santosa, Lian J Arzbecker, Robert A Fox
PURPOSE: We explore a new approach to the study of cognitive effort involved in listening to speech by measuring the brain activity in a listener in relation to the brain activity in a speaker. We hypothesize that the strength of this brain-to-brain synchrony (coupling) reflects the magnitude of cognitive effort involved in verbal communication and includes both listening effort and speaking effort. We investigate whether interbrain synchrony is greater in native-to-native versus native-to-nonnative communication using functional near-infrared spectroscopy (fNIRS)...
March 27, 2024: Journal of Speech, Language, and Hearing Research: JSLHR
https://read.qxmd.com/read/38530014/childaugment-data-augmentation-methods-for-zero-resource-children-s-speaker-verification
#2
JOURNAL ARTICLE
Vishwanath Pratap Singh, Md Sahidullah, Tomi Kinnunen
The accuracy of modern automatic speaker verification (ASV) systems, when trained exclusively on adult data, drops substantially when applied to children's speech. The scarcity of children's speech corpora hinders fine-tuning ASV systems for children's speech. Hence, there is a timely need to explore more effective ways of reusing adults' speech data. One promising approach is to align vocal-tract parameters between adults and children through children-specific data augmentation, referred here to as ChildAugment...
March 1, 2024: Journal of the Acoustical Society of America
https://read.qxmd.com/read/38528792/can-infants-retain-statistically-segmented-words-and-mappings-across-a-delay
#3
JOURNAL ARTICLE
Ferhat Karaman, Jill Lany, Jessica F Hay
Infants are sensitive to statistics in spoken language that aid word-form segmentation and immediate mapping to referents. However, it is not clear whether this sensitivity influences the formation and retention of word-referent mappings across a delay, two real-world challenges that learners must overcome. We tested how the timing of referent training, relative to familiarization with transitional probabilities (TPs) in speech, impacts English-learning 23-month-olds' ability to form and retain word-referent mappings...
March 2024: Cognitive Science
https://read.qxmd.com/read/38528425/a-de-novo-frameshift-variant-in-med13-gene-in-a-patient-with-autism-spectrum-disorder-and-magnetic-resonance-imaging-abnormalities-mimicking-tuberous-sclerosis
#4
Gloria Pantalone, Maria Margherita Mancardi, Andrea Rossi, Roberta Romanelli, Elena Marasco, Marini Carla
The mediator complex subunit 13 (MED13) gene is implicated in neurodevelopmental disorders including autism spectrum disorder (ASD), intellectual disability, and speech delay with varying severity and course. Additional, extra central nervous system, features include eye or vision problems, hypotonia, congenital heart abnormalities, and dysmorphisms. We describe a 7-year- and 4-month-old girl evaluated for ASD whose brain magnetic resonance imaging was suggestive of multiple cortical tubers. The exome sequencing (ES - trio analysis) uncovered a unique, de novo, frameshift variant in the MED13 gene (c...
March 25, 2024: American Journal of Medical Genetics. Part A
https://read.qxmd.com/read/38526542/using-longitudinal-twitter-data-for-digital-epidemiology-of-childhood-health-outcomes-an-annotated-data-set-and-deep-neural-network-classifiers
#5
JOURNAL ARTICLE
Ari Z Klein, José Agustín Gutiérrez Gómez, Lisa D Levine, Graciela Gonzalez-Hernandez
We manually annotated 9734 tweets that were posted by users who reported their pregnancy on Twitter, and used them to train, evaluate, and deploy deep neural network classifiers (F1 -score=0.93) to detect tweets that report having a child with attention-deficit/hyperactivity disorder (678 users), autism spectrum disorders (1744 users), delayed speech (902 users), or asthma (1255 users), demonstrating the potential of Twitter as a complementary resource for assessing associations between pregnancy exposures and childhood health outcomes on a large scale...
March 25, 2024: Journal of Medical Internet Research
https://read.qxmd.com/read/38519962/family-case-of-potocki-lupski-syndrome
#6
JOURNAL ARTICLE
L N Kolbasin, T A Dubrovskaya, G B Salnikova, E N Solovieva, M Yu Donnikov, R A Illarionov, A S Glotov, L V Kovalenko, L D Belotserkovtseva
BACKGROUND: Potocki-Lupski syndrome (PTLS, OMIM # 610883) is a rare genetic developmental disorder resulting from a partial heterozygous microduplication at chromosome 17p11.2. The condition is characterized by a wide variability of clinical expression, which can make its clinical and molecular diagnosis challenging. CASE PRESENTATION: We report here a family (mother and her two children) diagnosed with PTLS. When examining children, neurological and psychological (neuropsychiatric) manifestations (speech delay, mild mental retardation), motor disorders, craniofacial dysmorphism (microcephaly, dolichocephaly, triangular face, wide bulging forehead, long chin, antimongoloid slant, "elfin" ears) were revealed...
March 22, 2024: Molecular Cytogenetics
https://read.qxmd.com/read/38513763/exploring-the-differences-between-an-immature-and-a-mature-human-auditory-system-through-auditory-late-responses-in-quiet-and-in-noise
#7
JOURNAL ARTICLE
Fauve Duquette-Laplante, Benoît Jutras, Noémie Néron, Sandra Fortin, Amineh Koravand
Children are disadvantaged compared to adults when they perceive speech in a noisy environment. Noise reduces their ability to extract and understand auditory information. Auditory-Evoked Late Responses (ALRs) offer insight into how the auditory system can process information in noise. This study investigated how noise, signal-to-noise ratio (SNR), and stimulus type affect ALRs in children and adults. Fifteen participants from each group with normal hearing were studied under various conditions. The findings revealed that both groups experienced delayed latencies and reduced amplitudes in noise but that children had fewer identifiable waves than adults...
March 19, 2024: Neuroscience
https://read.qxmd.com/read/38511263/auditory-outcomes-following-cochlear-implantation-in-children-with-unilateral-hearing-loss
#8
JOURNAL ARTICLE
Shannon S Wu, Camille Dunn-Johnson, Daniel M Zeitler, Seth Schwartz, Suzanne Sutliff, Swathi Appachi, Carmen Jamis, Karen Petter, Rachel Vovos, Donald Goldberg, Samantha Anne
OBJECTIVE: Unilateral hearing loss (UHL) in children is associated with speech and language delays. Cochlear implantation (CI) is currently the only rehabilitative option that restores binaural hearing. This study aims to describe auditory outcomes in children who underwent CI for UHL and to determine the association between duration of hearing loss and auditory outcomes. STUDY DESIGN: Retrospective case series. SETTING: Three tertiary-level, academic institutions...
March 21, 2024: Otology & Neurotology
https://read.qxmd.com/read/38510079/speech-language-functional-communication-psychosocial-outcomes-and-qol-in-school-age-children-with-congenital-unilateral-hearing-loss
#9
JOURNAL ARTICLE
Linda Cupples, Teresa Y C Ching, Sanna Hou
INTRODUCTION: Children with early-identified unilateral hearing loss (UHL) might be at risk for delays in early speech and language, functional communication, psychosocial skills, and quality of life (QOL). However, a paucity of relevant research prohibits strong conclusions. This study aimed to provide new evidence relevant to this issue. METHODS: Participants were 34 children, ages 9;0 to 12;7 (years;months), who were identified with UHL via newborn hearing screening...
2024: Frontiers in Pediatrics
https://read.qxmd.com/read/38504481/recurrent-atp1a1-variant-gly903arg-causes-developmental-delay-intellectual-disability-and-autism
#10
Maike F Dohrn, Guney Bademci, Adriana P Rebelo, Médéric Jeanne, Nicholas A Borja, Danique Beijer, Matt C Danzi, Stephanie A Bivona, Paul Gueguen, Mohammad F Zafeer, Mustafa Tekin, Stephan Züchner
ATP1A1 encodes a sodium-potassium ATPase that has been linked to several neurological diseases. Using exome and genome sequencing, we identified the heterozygous ATP1A1 variant NM_000701.8: c.2707G>A;p.(Gly903Arg) in two unrelated children presenting with delayed motor and speech development and autism. While absent in controls, the variant occurred de novo in one proband and co-segregated in two affected half-siblings, with mosaicism in the healthy mother. Using a specific ouabain resistance assay in mutant transfected HEK cells, we found significantly reduced cell viability...
March 19, 2024: Annals of Clinical and Translational Neurology
https://read.qxmd.com/read/38499966/the-continuously-evolving-phenotype-of-succinic-semialdehyde-dehydrogenase-deficiency
#11
JOURNAL ARTICLE
Natalia Alexandra Julia-Palacios, Oya Kuseyri Hübschmann, Mireia Olivella, Roser Pons, Gabriella Horvath, Thomas Lücke, Cheuk-Wing Fung, Suet-Na Wong, Elisenda Cortès-Saladelafont, M Mar Rovira-Remisa, Yılmaz Yıldız, Saadet Mercimek-Andrews, Birgit Assmann, Galina Stevanović, Filippo Manti, Heiko Brennenstuhl, Sabine Jung-Klawitter, Kathrin Jeltsch, H Serap Sivri, Sven F Garbade, Àngels García-Cazorla, Thomas Opladen
The objective of the study is to evaluate the evolving phenotype and genetic spectrum of patients with succinic semialdehyde dehydrogenase deficiency (SSADHD) in long-term follow-up. Longitudinal clinical and biochemical data of 22 pediatric and 9 adult individuals with SSADHD from the patient registry of the International Working Group on Neurotransmitter related Disorders (iNTD) were studied with in silico analyses, pathogenicity scores and molecular modeling of ALDH5A1 variants. Leading initial symptoms, with onset in infancy, were developmental delay and hypotonia...
March 18, 2024: Journal of Inherited Metabolic Disease
https://read.qxmd.com/read/38496842/a-nonsense-cc2d1a-variant-is-associated-with-congenital-anomalies-motor-delay-hypotonia-and-slight-deformities
#12
JOURNAL ARTICLE
Sheng Yi, Xianglian Tang, Qiang Zhang, Yu Liang, Jing Huang, Shujie Zhang, Limei Huang, Shang Yi, Minpan Huang, Zailong Qin, Jingsi Luo
BACKGROUND: Autosomal recessive intellectual developmental disorder-3 is caused by homozygous or compound heterozygous mutations in the CC2D1A gene. The disorder is characterized by intellectual disability (ID) and autism spectrum disorder (ASD). To date, 39 patients from 17 families with CC2D1A -related disorders have been reported worldwide, in whom only six pathogenic or likely pathogenic loss-of-function variants and three variants of uncertain significance (VUS) in the CC2D1A gene have been identified in these patients...
March 30, 2024: Heliyon
https://read.qxmd.com/read/38493261/tongue-reflex-for-speech-posture-control
#13
JOURNAL ARTICLE
Takayuki Ito, Mohamed Bouguerra, Morgane Bourhis, Pascal Perrier
Although there is no doubt from an empirical viewpoint that reflex mechanisms can contribute to tongue motor control in humans, there is limited neurophysiological evidence to support this idea. Previous results failing to observe any tonic stretch reflex in the tongue had reduced the likelihood of a reflex contribution in tongue motor control. The current study presents experimental evidence of a human tongue reflex in response to a sudden stretch while holding a posture for speech. The latency was relatively long (50 ms), which is possibly mediated through cortical-arc...
March 16, 2024: Scientific Reports
https://read.qxmd.com/read/38490743/alpha-and-beta-oscillations-differentially-support-word-production-in-a-rule-switching-task
#14
JOURNAL ARTICLE
Ioanna Zioga, Ying Joey Zhou, Hugo Weissbart, Andrea E Martin, Saskia Haegens
Research into the role of brain oscillations in basic perceptual and cognitive functions has suggested the alpha rhythm reflects functional inhibition while the beta rhythm reflects neural ensemble (re)activation. However, little is known regarding the generalization of these proposed fundamental operations to linguistic processes, such as speech comprehension and production. Here, we recorded magnetoencephalography (MEG) in participants performing a novel rule-switching paradigm. Specifically, Dutch native speakers had to produce an alternative exemplar from the same category or a feature of a given target word embedded in spoken sentences (e...
March 15, 2024: ENeuro
https://read.qxmd.com/read/38488524/disease-progression-in-sanfilippo-type-b-case-series-of-brazilian-patients
#15
JOURNAL ARTICLE
Yorran Hardman Araújo Montenegro, Francyne Kubaski, Franciele Barbosa Trapp, Mariluce Riegel-Giugliani, Carolina Fischinger Moura de Souza, Erlane Marques Ribeiro, Charles Marques Lourenço, Augusto César Cardoso-Dos-Santos, Márcia Gonçalves Ribeiro, Chong Ae Kim, Matheus Augusto Araújo Castro, Emília Katiane Embiruçu, Carlos Eduardo Steiner, Filippo Pinto E Vairo, Guilherme Baldo, Roberto Giugliani, Fabiano de Oliveira Poswar
Mucopolysaccharidosis type IIIB (MPS IIIB) is caused by deficiency of alpha-N-acetylglucosaminidase, leading to storage of heparan sulphate. The disease is characterized by intellectual disability and hyperactivity, among other neurological and somatic features. Here we studied retrospective data from a total of 19 MPS IIIB patients from Brazil, aiming to evaluate disease progression. Mean age at diagnosis was 7.2 years. Speech delay was one of the first symptoms to be identified, around 2-3 years of age. Behavioral alterations include hyperactivity and aggressiveness, starting around age four...
2024: Genetics and Molecular Biology
https://read.qxmd.com/read/38482162/catatonia-as-a-result-of-a-traumatic-brain-injury
#16
Jessica Berthelot, Jacob Cambre, Madeline Erwin, Jennifer Phan
Catatonia is a neuropsychiatric syndrome typically marked by disturbances in motor activity, speech, and behavior. It has historically been associated with psychiatric illness, but acute medical illness, neurocognitive disorders, and neurodevelopmental disorders can cause catatonia as well. Catatonia is likely underrecognized and underdiagnosed in the general medical hospital, despite high risks of morbidity and mortality and the availability of rapidly effective treatment. Here, we present a case of catatonia secondary to traumatic brain injury that responded to lorazepam after a delayed diagnosis...
2024: Case Reports in Psychiatry
https://read.qxmd.com/read/38481258/de-novo-variants-of-irf2bpl-result-in-developmental-epileptic-disorder
#17
JOURNAL ARTICLE
Yong Wang, Zhongling Ke, Yufen Li, Mingqi Qiu, Jing Liu, Zuozhen Yang, Shu Wen, Mengmeng Liang, Shan Chen
BACKGROUND: Pathogenic variants of the IRF2BPL gene have been reported to cause neurodevelopmental disorders; however, studies focused on IRF2BPL in zebrafish are limited. RESULTS: We reported three probands diagnosed with developmental delay and epilepsy and investigated the role of IRF2BPL in neurodevelopmental disorders in zebrafish. The clinical and genetic characteristics of three patients with neurodevelopmental disorder with regression, abnormal movements, loss of speech and seizures (NEDAMSS) were collected...
March 13, 2024: Orphanet Journal of Rare Diseases
https://read.qxmd.com/read/38479041/factors-associated-with-sleep-disturbances-in-children-and-adolescents-with-angelman-syndrome
#18
JOURNAL ARTICLE
Geraldine Leader, Chloe Killeen, Sally Whelan, Rory Coyne, Megan Tones, Arlene Mannion
BACKGROUND: Angelman Syndrome (AS) is a rare genetic disorder characterised by hyperactivity, overexcitability, developmental delays, and lack of speech. METHODS: This study used secondary data analysis to investigate sleep disturbances in children and adolescents (n = 212) who are enrolled in the Global Angelman Syndrome Registry. Participants were divided into two groups based on the presence or absence of sleep disturbance. The cut-off score of 40 on the Sleep Disturbance Scale for Children was used to indicate the presence or absence of sleep disturbances...
March 7, 2024: Sleep Medicine
https://read.qxmd.com/read/38471206/delayed-brain-abscess-as-a-complication-of-cerebral-infarction-a-rare-case-report-and-review-of-the-literature
#19
Mahmoud M Taha, Mohamed Kh Elbadawy, Amr M N Azzam, Mazen M Taha, Ahmad Alkheder, Khaled Alsayed Abualkhair
INTRODUCTION: Systemic infections are a common complication of cerebral stroke, while the development of a cerebral abscess on the background of infarcted brain tissue is an extremely rare occurrence. Here, we present a new case alongside a literature review. CASE PRESENTATION: A previously healthy 37-year-old man presented with sudden right-sided weakness and speech difficulties, progressing to complete aphasia. Initial tests showed no abnormalities, but subsequent CT scans revealed left basal ganglia infarction...
March 11, 2024: International Journal of Surgery Case Reports
https://read.qxmd.com/read/38469086/long-term-follow-up-in-gamt-deficiency-correlation-of-therapy-regimen-biochemical-and-in-vivo-brain-proton-mr-spectroscopy-data
#20
JOURNAL ARTICLE
Lara M Marten, Ralph Krätzner, Gajja S Salomons, Matilde Fernandez Ojeda, Peter Dechent, Jutta Gärtner, Peter Huppke, Steffi Dreha-Kulaczewski
GAMT deficiency is a rare autosomal recessive disease within the group of cerebral creatine deficiency syndromes. Cerebral creatine depletion and accumulation of guanidinoacetate (GAA) lead to clinical presentation with intellectual disability, seizures, speech disturbances and movement disorders. Treatment consists of daily creatine supplementation to increase cerebral creatine, reduction of arginine intake and supplementation of ornithine for reduction of toxic GAA levels. This study represents the first long-term follow-up over a period of 14 years, with detailed clinical data, biochemical and multimodal neuroimaging findings...
March 2024: Molecular Genetics and Metabolism Reports
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