Knowledge in the area of developmental disabilities has been expanding rapidly. One area that has received particular attention is the topic of related comorbid conditions. This phenomenon is not exclusive to the field of developmental disabilities. However, research with this population is of recent origin. The purpose of this paper is to review the origins of this field including some of the notable developments and potential future trends.
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| http://dx.doi.org/10.1016/j.ridd.2013.09.043 | DOI Listing |
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Recent developments in translational imaging of in vivo gene therapy outcomes.
Mol Ther
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Department of Molecular and Medical Pharmacology, David Geffen School of Medicine, University of California, Los Angeles, California 90095; Crump Institute for Molecular Imaging, University of California, Los Angeles, Los Angeles, California 90095; Jonsson Comprehensive Cancer Center, University of California, Los Angeles, Los Angeles, California 90095. Electronic address:
Gene therapy achieves therapeutic benefits by delivering genetic materials, packaged within a delivery vehicle, to target cells with defective genes. This approach has shown promise in treating various conditions, including cancer, metabolic disorders, and tissue degenerative diseases. Over the past five years, molecular imaging has increasingly supported gene therapy development in both preclinical and clinical studies.
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J Neurosci
December 2024
Neurobiology Laboratory, National Institute of Environmental Health Sciences, Division of Intramural Research, National Institute of Health, Research Triangle Park, North Carolina 27713, USA
Perineuronal nets (PNNs) are a specialized extracellular matrix that surround certain populations of neurons, including (inhibitory) parvalbumin (PV) expressing-interneurons throughout the brain and (excitatory) CA2 pyramidal neurons in hippocampus. PNNs are thought to regulate synaptic plasticity by stabilizing synapses and as such, could regulate learning and memory. Most often, PNN functions are queried using enzymatic degradation with chondroitinase, but that approach does not differentiate PNNs on CA2 neurons from those on adjacent PV cells.
View Article and Find Full Text PDFMetabolomics of mothers of children with autism, idiopathic developmental delay, and Down syndrome.
Sci Rep
December 2024
Department of Nutrition, Department of Food Science and Technology, University of California, One Shields Avenue, Davis, CA, 95616, USA.
Developmental delays have been associated with metabolic disturbances in children. Previous research in the childhood autism risk from genetics and the environment (CHARGE) case-control study identified neurodevelopment-related plasma metabolites in children, suggesting disturbances in the energy-related tricarboxylic acid (TCA) cycle and 1-carbon metabolism (1CM). Here, we investigated associations between children's neurodevelopmental outcomes and their mothers' plasma metabolite profiles in a subset of mother-child dyads from CHARGE, including those with autism spectrum disorder (ASD, n = 209), Down syndrome (DS, n = 76), idiopathic developmental delay (iDD, n = 64), and typically developed (TD, n = 185) controls.
View Article and Find Full Text PDFPatterns of the left thalamus embedding into the connectome associated with reading skills in children with reading disabilities.
Netw Neurosci
December 2024
Department of Psychology, The University of Western Ontario, London, Canada.
We examined how thalamocortical connectivity structure reflects children's reading performance. Diffusion-weighted MRI at 3 T and a series of reading measures were collected from 64 children (33 girls) ages 8-14 years with and without dyslexia. The topological properties of the left and right thalamus were computed based on the whole-brain white matter network and a hub-attached reading network, and were correlated with scores on several tests of children's reading and reading-related abilities.
View Article and Find Full Text PDFSleep complaints in individuals with SYNGAP1-associated syndrome.
Sleep Med
December 2024
Sleep Institute, Associação Fundo de Incentivo à Pesquisa (AFIP), São Paulo, Brazil; Departamento de Psicobiologia, Universidade Federal de São Paulo, São Paulo, Brazil. Electronic address:
Neurodevelopmental disorders pose significant clinical challenges related to atypical brain development, often manifesting as learning disabilities, developmental delays, intellectual deficits, behavioral issues, epilepsy, and sleep disturbances. Among genetic neuropsychiatric conditions, synaptopathies are notable for their impact on synaptic function, resulting in varied neuropsychiatric phenotypes. Among these, SYNGAP1-associated syndrome is characterized by intellectual disability, global developmental delay, autism, and epilepsy, primarily due to loss-of-function mutations.
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