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Cognitive Speech Delay

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https://www.readbyqxmd.com/read/28891669/an-age-related-deficit-in-resolving-interference-evidence-from-speech-perception
#1
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/28883776/receptive-vocabulary-and-cognition-of-elderly-people-in-institutional-care
#2
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
#3
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/28803710/intrathecal-2-hydroxypropyl-%C3%AE-cyclodextrin-decreases-neurological-disease-progression-in-niemann-pick-disease-type-c1-a-non-randomised-open-label-phase-1-2-trial
#4
Daniel S Ory, Elizabeth A Ottinger, Nicole Yanjanin Farhat, Kelly A King, Xuntian Jiang, Lisa Weissfeld, Elizabeth Berry-Kravis, Cristin D Davidson, Simona Bianconi, Lee Ann Keener, Ravichandran Rao, Ariane Soldatos, Rohini Sidhu, Kimberly A Walters, Xin Xu, Audrey Thurm, Beth Solomon, William J Pavan, Bernardus N Machielse, Mark Kao, Steven A Silber, John C McKew, Carmen C Brewer, Charles H Vite, Steven U Walkley, Christopher P Austin, Forbes D Porter
BACKGROUND: Niemann-Pick disease, type C1 (NPC1) is a lysosomal storage disorder characterised by progressive neurodegeneration. In preclinical testing, 2-hydroxypropyl-β-cyclodextrins (HPβCD) significantly delayed cerebellar Purkinje cell loss, slowed progression of neurological manifestations, and increased lifespan in mouse and cat models of NPC1. The aim of this study was to assess the safety and efficacy of lumbar intrathecal HPβCD. METHODS: In this open-label, dose-escalation phase 1-2a study, we gave monthly intrathecal HPβCD to participants with NPC1 with neurological manifestation at the National Institutes of Health (NIH), Bethesda, MD, USA...
August 10, 2017: Lancet
https://www.readbyqxmd.com/read/28777499/alg13-cdg-in-a-male-with-seizures-normal-cognitive-development-and-normal-transferrin-isoelectric-focusing
#5
Therese E Gadomski, Melody Bolton, Majid Alfadhel, Chris Dvorak, Olalekan A Ogunsakin, Stephen L Nelson, Eva Morava
ALG13-CDG has been recently discovered as a disorder of severe developmental, intellectual and speech disability, microcephaly, visual abnormalities, seizures, hepatomegaly, coagulation abnormalities, and abnormal serumtransferrin isoelectric focusing in serum. A male with seizures, delayed motor, and speech development, but normal cognition carried a hemizygous, predicted pathogenic ALG13 variant (p.E463G). N-glycosylation studies in plasma were normal. ICAM-1 expression was decreased in patient fibroblasts, supporting the variant's pathogenicity...
August 4, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28748485/early-onset-first-episode-psychosis-dimensional-structure-of-symptoms-clinical-subtypes-and-related-neurodevelopmental-markers
#6
Maria Giuseppina Petruzzelli, Lucia Margari, Andrea Bosco, Francesco Craig, Roberto Palumbi, Francesco Margari
Despite the growing interest in a dimensional approach to the assessment of symptoms and clinically relevant phenomena in schizophrenia spectrum disorders, very few studies, to date, have examined the dimensional structure of symptoms in early onset first episode psychosis. In the present study, we assessed a sample of 60 children and adolescents of both sexes with first episode schizophrenia spectrum psychosis. A principal component analysis (PCA) of the Positive and Negative Syndrome Scale (PANSS) was performed and the factors obtained were used to carry out a cluster analysis...
July 26, 2017: European Child & Adolescent Psychiatry
https://www.readbyqxmd.com/read/28736607/typical-versus-delayed-speech-onset-influences-verbal-reporting-of-autistic-interests
#7
Liliane Chiodo, Steve Majerus, Laurent Mottron
BACKGROUND: The distinction between autism and Asperger syndrome has been abandoned in the DSM-5. However, this clinical categorization largely overlaps with the presence or absence of a speech onset delay which is associated with clinical, cognitive, and neural differences. It is unknown whether these different speech development pathways and associated cognitive differences are involved in the heterogeneity of the restricted interests that characterize autistic adults. METHOD: This study tested the hypothesis that speech onset delay, or conversely, early mastery of speech, orients the nature and verbal reporting of adult autistic interests...
2017: Molecular Autism
https://www.readbyqxmd.com/read/28730641/basal-ganglia-and-autism-a-translational-perspective
#8
REVIEW
Krishna Subramanian, Cheryl Brandenburg, Fernanda Orsati, Jean-Jacques Soghomonian, John P Hussman, Gene J Blatt
The basal ganglia are a collection of nuclei below the cortical surface that are involved in both motor and non-motor functions, including higher order cognition, social interactions, speech, and repetitive behaviors. Motor development milestones that are delayed in autism such as gross motor, fine motor and walking can aid in early diagnosis of autism. Neuropathology and neuroimaging findings in autism cases revealed volumetric changes and altered cell density in select basal ganglia nuclei. Interestingly, in autism, both the basal ganglia and the cerebellum are impacted both in their motor and non-motor domains and recently, found to be connected via the pons through a short disynaptic pathway...
July 21, 2017: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/28675162/ampa-receptor-specific-biogenesis-complexes-control-synaptic-transmission-and-intellectual-ability
#9
Aline Brechet, Rebecca Buchert, Jochen Schwenk, Sami Boudkkazi, Gerd Zolles, Karine Siquier-Pernet, Irene Schaber, Wolfgang Bildl, Abdelkrim Saadi, Christine Bole-Feysot, Patrick Nitschke, Andre Reis, Heinrich Sticht, Nouriya Al-Sanna'a, Arndt Rolfs, Akos Kulik, Uwe Schulte, Laurence Colleaux, Rami Abou Jamra, Bernd Fakler
AMPA-type glutamate receptors (AMPARs), key elements in excitatory neurotransmission in the brain, are macromolecular complexes whose properties and cellular functions are determined by the co-assembled constituents of their proteome. Here we identify AMPAR complexes that transiently form in the endoplasmic reticulum (ER) and lack the core-subunits typical for AMPARs in the plasma membrane. Central components of these ER AMPARs are the proteome constituents FRRS1l (C9orf4) and CPT1c that specifically and cooperatively bind to the pore-forming GluA1-4 proteins of AMPARs...
July 4, 2017: Nature Communications
https://www.readbyqxmd.com/read/28659154/spinocerebellar-ataxia-type-29-due-to-mutations-in-itpr1-a-case-series-and-review-of-this-emerging-congenital-ataxia
#10
Jessica L Zambonin, Allison Bellomo, Hilla Ben-Pazi, David B Everman, Lee M Frazer, Michael T Geraghty, Amy D Harper, Julie R Jones, Benjamin Kamien, Kristin Kernohan, Mary Kay Koenig, Matthew Lines, Elizabeth Emma Palmer, Randal Richardson, Reeval Segel, Mark Tarnopolsky, Jason R Vanstone, Melissa Gibbons, Abigail Collins, Brent L Fogel, Tracy Dudding-Byth, Kym M Boycott
BACKGROUND: Spinocerebellar ataxia type 29 (SCA29) is an autosomal dominant, non-progressive cerebellar ataxia characterized by infantile-onset hypotonia, gross motor delay and cognitive impairment. Affected individuals exhibit cerebellar dysfunction and often have cerebellar atrophy on neuroimaging. Recently, missense mutations in ITPR1 were determined to be responsible. RESULTS: Clinical information on 21 individuals from 15 unrelated families with ITPR1 mutations was retrospectively collected using standardized questionnaires, including 11 previously unreported singletons and 2 new patients from a previously reported family...
June 28, 2017: Orphanet Journal of Rare Diseases
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
#11
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...
September 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28624645/cingulo-opercular-activity-affects-incidental-memory-encoding-for-speech-in-noise
#12
Kenneth I Vaden, Susan Teubner-Rhodes, Jayne B Ahlstrom, Judy R Dubno, Mark A Eckert
Correctly understood speech in difficult listening conditions is often 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...
August 15, 2017: NeuroImage
https://www.readbyqxmd.com/read/28604578/long-term-outcomes-of-cochlear-implantation-in-children-with-congenital-cytomegalovirus-infection
#13
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)...
August 2017: Otology & Neurotology
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
#14
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/28562251/reducing-information-s-speed-improves-verbal-cognition-and-behavior-in-autism-a-2-cases-report
#15
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...
June 2017: Pediatrics
https://www.readbyqxmd.com/read/28458577/ambulatory-anesthetic-care-in-children-undergoing-myringotomy-and-tube-placement-current-perspectives
#16
REVIEW
Hal Robinson, Thomas Engelhardt
PURPOSE: Myringotomy and tube placement is one of the most frequently performed ear, nose and throat (ENT) surgeries in the pediatric population. Effective anesthetic management is vital to ensuring successful ambulatory care and ensuring child and parental satisfaction. RECENT FINDINGS: This review summarizes recently published studies about the long-term effects of general anesthesia in young children, novel approaches to preoperative fasting and simplified approaches to the assessment and management of emergence delirium (ED) and emergence agitation (EA)...
2017: Local and Regional Anesthesia
https://www.readbyqxmd.com/read/28429784/sight-and-sound-persistently-out-of-synch-stable-individual-differences-in-audiovisual-synchronisation-revealed-by-implicit-measures-of-lip-voice-integration
#17
Alberta Ipser, Vlera Agolli, Anisa Bajraktari, Fatimah Al-Alawi, Nurfitriani Djaafara, Elliot D Freeman
Are sight and sound out of synch? Signs that they are have been dismissed for over two centuries as an artefact of attentional and response bias, to which traditional subjective methods are prone. To avoid such biases, we measured performance on objective tasks that depend implicitly on achieving good lip-synch. We measured the McGurk effect (in which incongruent lip-voice pairs evoke illusory phonemes), and also identification of degraded speech, while manipulating audiovisual asynchrony. Peak performance was found at an average auditory lag of ~100 ms, but this varied widely between individuals...
April 21, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28408725/screening-for-developmental-delay-in-preschool-aged-children-using-parent-completed-ages-and-stages-questionnaires-additional-insights-into-child-development
#18
Soheir S Abo El Elella, Maha A M Tawfik, Wafaa Moustafa M Abo El Fotoh, Naglaa Fathy Barseem
BACKGROUND: Developmental delay is a delay in areas of speech, language, motor, social and cognitive development. Because of the negative impact of intellectual and learning disabilities, early identification of children with developmental and behavioral problems using appropriate screening tests is crucial. OBJECTIVES: Utilization of parent-completed Ages and Stages Questionnaires (ASQs) for detecting the developmental delay in preschool age children and clarification of possible associated risk factors...
April 13, 2017: Postgraduate Medical Journal
https://www.readbyqxmd.com/read/28399095/-modern-principles-of-integrated-diagnostics-and-rehabilitation-of-perinatal-lesions-of-the-nervous-system-and-their-consequences
#19
S A Nemkova
The article is devoted to the comprehensive diagnosis and treatment of perinatal lesions of the nervous system and their consequences in children. Reflects modern approaches to data classification conditions, taking into account ideas on the etiology and pathogenesis of the disease, the clinical manifestations of the main syndromes (excitation and depression, hypertensive, convulsive, movement disorders) as the neonatal period, and in the formation of long-term effects (motor and mental delay and speech development, hyperkinetic syndrome, cerebral palsy and others)...
2017: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
https://www.readbyqxmd.com/read/28377545/a-novel-wdr62-mutation-causes-primary-microcephaly-in-a-large-consanguineous-saudi-family
#20
Muhammad Imran Naseer, Mahmood Rasool, Sameera Sogaty, Rukhaa Adeel Chaudhary, Haifa Mansour Mansour, Adeel G Chaudhary, Adel M Abuzenadah, Mohammad H Al-Qahtani
BACKGROUND: Primary microcephaly (MCPH) is a rare developmental defect characterized by impaired cognitive functions, retarded neurodevelopment and reduced brain size. It is genetically heterogeneous and more than 17 genes so far have been identified that are associated with this disease. OBJECTIVE: To study the genetic defect in a consanguineous Saudi family with primary microcephaly. DESIGN: Cross-sectional clinical genetics study of a Saudi family...
March 2017: Annals of Saudi Medicine
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