Results 101 to 110 of about 225,713 (333)
British Educational Research Journal, EarlyView.Abstract All children should have access to quality education through a child‐centred pedagogy. An inclusive, child‐centred pedagogy uses a strength‐based view of children that recognises each child as unique and competent, providing children with multiple opportunities to explore and learn at their own pace.
Katherine Gulliver
wiley +1 more source
Fragile X mental retardation protein controls ion channel expression and activity [PDF]
, 2016 Fragile X-associated disorders are a family of genetic conditions resulting from the partial or complete loss of fragile X mental retardation protein (FMRP).
Ferron, L
core +1 more source
Updated report on tools to measure outcomes of clinical trials in fragile X syndrome
Journal of Neurodevelopmental Disorders, 2017 Fragile X syndrome (FXS) has been the neurodevelopmental disorder with the most active translation of preclinical breakthroughs into clinical trials. This process has led to a critical assessment of outcome measures, which resulted in a comprehensive ...
D. Budimirovic +8 more
semanticscholar +1 more source
Behavioral and epileptic phenotypes in a CHD2‐related developmental delay model
Epilepsia, EarlyView.Abstract Objective Heterozygous loss‐of‐function mutations in the CHD2 gene, encoding chromodomain helicase DNA‐binding protein 2, are associated with severe childhood onset epilepsy, global developmental delay, and autistic features. Animal models that accurately recapitulate human phenotypes are crucial for understanding rare neurodevelopmental ...
Anat Mavashov +10 more
wiley +1 more source
Of Men and Mice: Modeling the Fragile X Syndrome
Frontiers in Molecular Neuroscience, 2018 The Fragile X Syndrome (FXS) is one of the most common forms of inherited intellectual disability in all human societies. Caused by the transcriptional silencing of a single gene, the fragile x mental retardation gene FMR1, FXS is characterized by a ...
Regina Dahlhaus
semanticscholar +1 more source
Inherited metabolic epilepsies–established diseases, new approaches
Epilepsia Open, EarlyView.Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley +1 more source
Fragile X Premutation: Medications, Therapy and Lifestyle Advice
Pharmacogenomics and Personalized Medicine, 2021 Deepika Kour Sodhi,1 Randi Hagerman1,2 1The MIND Institute, University of California Davis Health, Sacramento, CA, USA; 2Department of Pediatrics, University of California Davis Health, Sacramento, CA, USACorrespondence: Randi HagermanUC Davis MIND ...
Sodhi DK, Hagerman R
doaj
Autism and Developmental Language Impairments, 2020 Background and aims Understanding the unique expressive language profiles of children with phenotypically similar, but distinct neurodevelopmental disorders, such as idiopathic autism spectrum disorder and fragile X syndrome with a co-diagnosis of autism
Elizabeth Hilvert +3 more
doaj +1 more source
Therapeutic Targets and Translational Endpoints in Fragile X Syndrome [PDF]
, 2014 __Abstract__ Fragile X syndrome is the most common inherited cause of intellectual disability. It is more common in boys (1 in 4000) than girls (1 in 6000).
Esch, C.E.F. (Celine) de
core
The multiple hit model of infantile and epileptic spasms: The 2025 update
Epilepsia Open, EarlyView.Abstract Objective Infantile and epileptic spasms syndrome (IESS) is a developmental and epileptic encephalopathy manifesting with epileptic spasms and poor neurodevelopmental outcomes. There is an urgent need for the development of more effective and tolerated therapies.
Aristea S. Galanopoulou +6 more
wiley +1 more source