Results 141 to 150 of about 5,447,213 (263)
ABSTRACT Objective Variants in SLC6A1, encoding the GABA transporter 1 (GAT‐1), cause epilepsy, autism spectrum disorder, and developmental delay via loss of GABA uptake, impaired trafficking, and ER retention. We previously found that 4‐Phenylbutyrate (PBA), an FDA‐approved drug, restores GABA uptake and reduces seizures in SLC6A1‐related disorders ...
Melissa B. DeLeeuw +5 more
wiley +1 more source
A Study of the Expectations of the Role of Early Childhood Teachers: The Viewpoints of Young Children and Young Children’s Parents [PDF]
[[abstract]]The purpose of this study is to gain an insight into the concepts of early childhood teachers from the point of view of young school children and their parents.
JU-PEI CHIANG
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Early childhood inclusion in Australia
From the introduction of early intervention services in Australian in the mid-1970s, the families of children with intellectual and multiple disabilities have been encouraged to enroll their children in local preschools and childcare centers.
Kemp, Coral R
core +1 more source
ABSTRACT Objective Facioscapulohumeral muscular dystrophy (FSHD) is one of the most debilitating and common muscular dystrophies. Despite its severity, no approved therapy exists for FSHD patients. However, several therapeutic candidates are currently under development, and some have recently entered clinical trials, marking the need for reliable ...
Mustafa Bilal Bayazit +11 more
wiley +1 more source
Onasemnogene Abeparvovec in Patients With SMA: Interim Results of the RESTORE Registry in Japan
ABSTRACT Objective There are limited real‐world data regarding the safety and effectiveness of onasemnogene abeparvovec (OA; Zolgensma) infusion, a one‐time gene replacement therapy, for Japanese patients with spinal muscular atrophy (SMA). We aimed to improve understanding of the real‐world outcomes for OA in Japan.
Kayoko Saito +8 more
wiley +1 more source
A philosophical anchor for creating inclusive communities in early childhood education: anti-bias philosophy and Te Whāriki: Early childhood curriculum. [PDF]
The basic premise of this paper is that inclusion in early childhood education in Aotearoa New Zealand is a worthy focus of early childhood education curriculum and that an anti-bias philosophy assists in developing curriculum that is inclusive.
Gunn, Alexandra Claire
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White Matter Microstructural Abnormalities in Neonatal Onset Genetic Epilepsy
ABSTRACT Objective Recent evidence indicates that epilepsy is associated with abnormal white matter. If seizures alter white matter, then the impact upon network function, epileptogenesis, and cognition could be pronounced in neonates undergoing rapid developmental myelination. Neonates with epilepsy due to nonstructural genetic causes provide a unique
Amanda G. Sandoval Karamian +8 more
wiley +1 more source
ABSTRACT Objective Down syndrome regression disorder is a syndrome characterized by subacute loss of cognitive, behavioral, and functional abilities in individuals with Down syndrome. Electroencephalography abnormalities are frequently observed during evaluation, but it remains unclear whether these findings represent a dynamic marker of disease ...
Jonathan D. Santoro +14 more
wiley +1 more source
ABSTRACT Objectives Focal cortical dysplasia (FCD) is the most common etiology of drug‐resistant epilepsy in children. Focal to bilateral tonic–clonic seizures (FBTCS) mark a high risk of drug‐resistant epilepsy and involve thalamocortical circuitry in their generation and propagation.
Hua Xie +8 more
wiley +1 more source
Adding To The Science Toolkit: Piloting Early Childhood Science Research Instruments In Australia
This pilot study trials three data collection instruments, namely the SciDoc, a teacher questionnaire and the Early Childhood Science Padlet. The tools were developed to examine high quality early childhood science assessment, teachers' attitudes towards
Cohrssen, CS +2 more
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