Results 61 to 70 of about 171,514 (309)

A Prospective Study of Individuals at Risk of Multiple Sclerosis Informs the Design of Primary Prevention Studies

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective In multiple sclerosis, the optimal time for deploying a therapeutic intervention is before the central nervous system is damaged; given the success of trials treating the earliest stage of MS, the radiologically isolated syndrome, developing primary prevention strategies is an important next challenge.
Amy W. Laitinen, Ceren Tozlu, Tina Roostaei, Fatoumata Diallo, Kaho Onomichi, Jiyeon Son, Zongqi Xia, Philip L. De Jager   +7 more
wiley   +1 more source

Communication interventions for high-risk infants: professionals’ perspectives on establishing services in Sri Lanka

BMJ Paediatrics Open
Background Early intervention is critical for optimising outcomes in children with neurodevelopmental disorders. The International Classification of Functioning, Disability and Health (ICF) identifies the role of family, interventions through early ...
Samanmali Sumanasena, Yvonne Shyama Kumari Weerasinghe   +1 more
doaj   +1 more source

Early Intervention Program Based on Tools of Mind on Executive Functions and Prerequisite Academic Skills for Children At-Risk of SLD [PDF]

مطالعات روانشناختی
This study examined the effectiveness of early intervention based on Tools of Mind on executive functions and prerequisite academic skills of children at-risk of specific learning disabilities (SLD).
Bahar Rashidi, Salar Faramarzi, Ahmad Abedi, Joachim Schroeder   +3 more
doaj   +1 more source

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz, Christopher H. Thompson, Linda C. Laux, Alfred L. George Jr.   +3 more
wiley   +1 more source

An Empirical Study of the Features of Coordination Functions in Hearing-Impaired Children of Primary School Age

Клиническая и специальная психология
The article examines the features of coordination functions (static, dynamic, spatial, object and symbolic coordination) in hearing-impaired children of primary school age from the perspective of N.A.
L.N. Molchanova, A.V. Buzovkina
doaj   +1 more source

Deficient knowledge in adult Turner syndrome care as an incentive to found Turner centers in Germany

Endocrine Connections, 2019
Objective: Turner syndrome (TS) is characterized by the complete or partial loss of the second sex chromosome and associated with a wide range of clinical manifestations. We aimed to assess the medical care of adult patients with TS in Germany. Design:
Elin Kahlert, Martina Blaschke, Knut Brockmann, Clemens Freiberg, Onno E Janssen, Nikolaus Stahnke, Domenika Strik, Martin Merkel, Alexander Mann, Klaus-Peter Liesenkötter, Heide Siggelkow   +10 more
doaj   +1 more source

The impact of the pandemic on children with disabilities

, 2021
Invited to speak at the All Party Parliamentary Fit and Healthy Childhood Group on the impact of the pandemic on children with ...
Howells, K.
core  

A Depolarizing Leak in Sodium Bicarbonate Cotransporter NBCe1 Causes Brain Edema

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives SLC4A4 encodes electrogenic sodium bicarbonate cotransporter NBCe1, prominently expressed in kidney and brain. Recessive loss‐of‐function variants in SLC4A4 cause proximal renal tubular acidosis, no brain edema. In the brain, NBCe1 is expressed by astrocytes, where it regulates pH and mediates astrocyte volume changes.
Quinty Bisseling, Mark D. Parker, Sven Kerst, Richard A. Pasternack, Jacob Tondreau, Marjolein Breur, Gemma M. van Rooijen‐van Leeuwen, Davide Tonduti, Ettore Salsano, Alejandra Darling, Joanna A. E. van Wijk, Susanna Törnroth‐Horsefield, Marianna Bugiani, Petra J. W. Pouwels, Quinten Waisfisz, Marjo S. van der Knaap, Rogier Min   +16 more
wiley   +1 more source

Winks, blinks, squints and twitches: Looking for disability, culture and self-determination through our son’s left eye

Scandinavian Journal of Disability Research, 2009
In this article, we argue that while an appreciation of disability’s cultural context is fundamental, we should be careful not to replace one essentialist version of disability with a new one.
Philip M. Ferguson, Dianne L. Ferguson
doaj   +1 more source