Results 121 to 130 of about 4,735 (203)

Preliminary Investigation of a Novel Measure of Speech Recognition in Noise

Audiology Research
Background/Objectives: Previous research has shown that listeners may use acoustic cues for speech processing that are perceived during brief segments in the noise when there is an optimal signal-to-noise ratio (SNR).
Linda Thibodeau, Emma Freeman, Kristin Kronenberger, Emily Suarez, Hyun-Woong Kim, Shuang Qi, Yune Sang Lee   +6 more
doaj   +1 more source

Research Integrity in Communication Sciences and Disorders: Preface

, 2011
Purpose A joint program on Research on Research Integrity sponsored by the National Institute of Neurological Disorders and Stroke and the Office of Research Integrity encouraged the examination of practices and policies ...
Sharon E. Moss
core   +1 more source

Biallelic PAX6 Variants in an Adult With Severe Microphthalmia and Preserved Intellectual Function

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT PAX6 encodes a dosage‐sensitive transcription factor that is essential for eye development. Heterozygous PAX6 disease is well characterized, but biallelic disease is extremely rare and has been associated with anophthalmia, severe brain malformations, and perinatal lethality.
Karl De Geer, Britt‐Marie Anderlid, Lena Jacobson, Daniel Martín Muñoz, Erik Björck   +4 more
wiley   +1 more source

Olivocochlear efferent reflex strength in vestibular schwannoma patients

B-ENT, 2015
Olivocochlear efferent reflex strength in vestibular schwannoma patients. Problem/objective: The olivocochlear reflex strength can be measured using contralateral acoustic stimulation (CAS) of transient evoked otoacoustic emissions (TEAOEs). The efferent
H. Keppler, F. Van Reybrouck, I. Dhooge
doaj   +2 more sources

Speech, language and hearing teaching-clinic: waiting list management

, 2016
Teaching-clinics aim to teach-learning, besides promoting free services to the community. These assignments result in a large patient demand and long waiting lists.
Luciana Paula Maximino (4704946), Camila de Castro Corrêa (4700869), Aline Megumi Arakawa (12826145)   +2 more
core   +1 more source

Recurrent Neurodevelopmental Disorder Associated With a Dominant‐Negative TOP2B H63Y Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We describe a 7 year‐old boy with severe neurodevelopmental disorder, medically‐refractory epileptic encephalopathy, hyperkinetic movement disorder, hypotonia, cerebral and cerebellar atrophy and hypomyelination who was found to have a heterozygous de novo TOP2B NM_001330700.2:c.187C>T, p.(His63Tyr) variant.
Zong Yi Ha, Leticia Dinatto, Kirsten Meagher, Colleen Guimond, Jan M. Friedman, Peter C. Stirling, Millan S. Patel   +6 more
wiley   +1 more source

From Cognitive Processing to Daily Functioning: Language, Visuomotor Integration, and Adaptive Behavior in Children With Coffin‐Siris Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Studying Mendelian neurodevelopmental disorders (NDDs) from a bottom‐up perspective, in which neurocognitive functioning is conceptualized as a mediator between genotype and behavioral phenotype, may facilitate early identification of syndrome‐specific vulnerabilities.
Myrthe R. M. Kamphof, Sophie van Rijn, Gijs W. E. Santen, Hanna Swaab   +3 more
wiley   +1 more source

Genetic Variants of Na+,K+‐ATPase Associated With Neurological Disorders: A Systematic Review

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Neurological disorders encompass a wide range of severe symptoms and manifestations, many of which are associated with genetic variants that affect ionic homeostasis. Na+,K+‐ATPase, a transmembrane enzyme responsible for maintaining electrochemical gradients in cells, plays a crucial role in neuronal excitability and brain function.
Giovana Kummer da Rosa, Leandro Rodrigo Ribeiro, Jéssica Lorena Bariviera, Mauro Schneider Oliveira   +3 more
wiley   +1 more source

Conceptualising quality early childhood education: Learning from young children in Brazil and South Africa through creative and play‐based methods

British Educational Research Journal, EarlyView., 2023
Abstract Early childhood has increasingly been acknowledged as a vital time for all children. Inclusive and quality education is part of the United Nations Sustainable Development Goals, with the further specification that all children have access to quality pre‐primary education.
Laura H. V. Wright, Irene Rizzini, Malibongwe Gwele, Lynn McNair, Cristina Laclette Porto, Marsha Orgill, E. Kay M. Tisdall, Malcolm Bush, Linda Biersteker   +8 more
wiley   +1 more source

Maternal Factors Modifying the Link Between Genetic Risk for Autism and Developmental Milestones

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Although common genetic liability—quantified through polygenic risk scores (PRS)—accounts for substantial variance in autism spectrum disorder (ASD) liability, how prenatal environmental exposures interact with genetic predisposition to shape developmental outcomes remains poorly understood. Using the data from Autism Genetic Resource Exchange
Liliana D'Alesio, Vishani Nimish Patel, McKenna Walsh, Erick Messias, Ping‐I Lin   +4 more
wiley   +1 more source