The development of new therapeutics is critically dependent on an understanding of the molecular pathways, the disruption of which results in neurological symptoms. Genetic and biomarker studies have highlighted immune signalling as a pathway that is impaired in patients with neurodevelopmental disorders (NDDs), and several studies on animal models of aberrant neurodevelopment have implicated microglia, the brain's immune cells, in the pathology of these diseases. Despite the increasing awareness of the role of immune responses and inflammation in the pathophysiology of NDDs, the testing of new drugs rarely considers their effects in microglia. In this brief review, we present evidence of how the study of microglia can be critical for understanding the mechanisms of action of candidate drugs for NDDs and for increasing their therapeutic effect.
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http://dx.doi.org/10.2174/1568026620666200221172619 | DOI Listing |
J Autism Dev Disord
January 2025
Center of Neurodevelopmental Disorders (KIND), Department of Women's and Children's Health, Centre for Psychiatry Research , Karolinska Institutet & Region Stockholm, Stockholm, Sweden.
The International Classification of Functioning, Disability and Health (ICF) is the World Health Organization's (WHO) standard for assessing individual functioning. Over the last decade, the ICF has been made more accessible for autism and ADHD through the development and validation of tailored shorter ICF versions for these diagnoses, ICF Core Sets. To further enhance their applicability in research and practice, these Core Sets have been operationalized and implemented on an online platform, the ICF CoreSets platform.
View Article and Find Full Text PDFMol Biol Rep
January 2025
Department of Cellular Pathology, Institute for Developmental Research, Aichi Developmental Disability Center, 713-8 Kamiya, Kasugai, 486-0392, Japan.
Background: RAB11 is a small GTP-binding protein that regulates intracellular trafficking of recycling endosomes and is thereby involved in several neural functions. Highly similar RAB11 isoforms are encoded by RAB11A and RAB11B genes, and their pathogenic variants are associated with similar neurodevelopmental disorders, suggesting that RAB11A and RAB11B play similar and important roles in brain development. However, the detailed distribution patterns of these isoforms in various organs, including the brain, remain undetermined.
View Article and Find Full Text PDFFront Behav Neurosci
January 2025
Economic, Psychological and Communication Sciences Department, Niccolò Cusano University, Rome, Italy.
This mini-review examines the available papers about virtual reality (VR) as a tool for the diagnosis or therapy of neurodevelopmental disorders, focusing on Attention Deficit Hyperactivity Disorder (ADHD), Autism Spectrum Disorder (ASD), and Specific Learning Disorders (SLD). Through a search on literature, we selected 62 studies published between 1998 and 2024. After exclusion criteria, our synoptic table includes 32 studies on ADHD (17 were on diagnostic evaluation and 15 were on therapeutic interventions), 2 on pure ASD, and 2 on pure SLD.
View Article and Find Full Text PDFBrain Commun
January 2025
Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.
Developmental and epileptic encephalopathies constitute a group of severe epilepsies, with seizure onset typically occurring in infancy or childhood, and diverse clinical manifestations, including neurodevelopmental deficits and multimorbidities. Many have genetic aetiologies, identified in up to 50% of individuals. Whilst classically considered paediatric disorders, most are compatible with survival into adulthood, but their adult phenotypes remain inadequately understood.
View Article and Find Full Text PDFFront Neurosci
January 2025
Department of Neurology, Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Harvard Medical School, Boston, MA, United States.
Malformations of cortical development encompass a broad range of disorders associated with abnormalities in corticogenesis. Widespread abnormalities in neuronal formation or migration can lead to small head size or microcephaly with disorganized placement of cell types. Specific, localized malformations are termed focal cortical dysplasias (FCD).
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