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"Neurodevelopmental"
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AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders
AMPA receptors (AMPARs) are tetrameric ligand-gated channels made up of combinations of GluA1-4 subunits encoded by
GRIA1-4
genes. GluA2 has an especially important role because, following post-transcriptional editing at the Q607 site, it renders heteromultimeric AMPARs Ca
2+
-impermeable, with a linear relationship between current and trans-membrane voltage. Here, we report heterozygous
de novo GRIA2
mutations in 28 unrelated patients with intellectual disability (ID) and neurodevelopmental abnormalities including autism spectrum disorder (ASD), Rett syndrome-like features, and seizures or developmental epileptic encephalopathy (DEE). In functional expression studies, mutations lead to a decrease in agonist-evoked current mediated by mutant subunits compared to wild-type channels. When GluA2 subunits are co-expressed with GluA1, most
GRIA2
mutations cause a decreased current amplitude and some also affect voltage rectification. Our results show that
de-novo
variants in
GRIA2
can cause neurodevelopmental disorders, complementing evidence that other genetic causes of ID, ASD and DEE also disrupt glutamatergic synaptic transmission.
Genetic variants in ionotropic glutamate receptors have been implicated in neurodevelopmental disorders. Here, the authors report heterozygous
de novo
mutations in the
GRIA2
gene in 28 individuals with intellectual disability and neurodevelopmental abnormalities associated with reduced Ca
2+
transport and AMPAR currents.”
Journal Article
Music interventions for neurodevelopmental disorders
\"This book explores how music can improve skills that are impaired in some neurodevelopmental disorders, including ADHD (attention deficit hyperactivity disorder), autism, and Rett syndrome. Rehabilitation interventions based on the use of music, termed \"music therapy\", are relatively widespread, but not all are supported by empirical evidence. This book offers readers an updated and scientifically grounded perspective on this theory and argues that music can be effective in promoting the acquisition of some basic mental abilities. Chapters present some of the latest research and data on how musical activities can lead children affected by neurodevelopmental disorders to improve those skills, including examples of training programs and exercises. The book will be a valuable resource for therapists, rehabilitators, psychologists, educators, musicians, researchers, as well as anyone interested in exploring the potential in music for human growth. Alessandro Antonietti is Professor of Applied Cognitive Psychology at the Catholic University of the Sacred Heart, Italy. There he is the head of the Department of Psychology and coordinates the Cognitive Psychology Lab. His research interests lie in the applications of cognitive issues in the field of instruction and rehabilitation. Barbara Colombo is Associate Professor of Cognitive Neuroscience at Champlain College, USA, where she is Head of the Neuroscience Lab. Her most recent research has been focused on exploring the role of individual differences in modulating cognitive and emotional behaviours. Braelyn R. DeRocher is affiliated with the Neuroscience Lab at Champlain College, USA. His research interests are related to empathy, aggression, and personal empowerment, focusing on at-risk youth\"--Page 4 of cover.
Book
Genetic architecture of subcortical brain structures in 38,851 individuals
Subcortical brain structures are integral to motion, consciousness, emotions and learning. We identified common genetic variation related to the volumes of the nucleus accumbens, amygdala, brainstem, caudate nucleus, globus pallidus, putamen and thalamus, using genome-wide association analyses in almost 40,000 individuals from CHARGE, ENIGMA and UK Biobank. We show that variability in subcortical volumes is heritable, and identify 48 significantly associated loci (40 novel at the time of analysis). Annotation of these loci by utilizing gene expression, methylation and neuropathological data identified 199 genes putatively implicated in neurodevelopment, synaptic signaling, axonal transport, apoptosis, inflammation/infection and susceptibility to neurological disorders. This set of genes is significantly enriched for
Drosophila
orthologs associated with neurodevelopmental phenotypes, suggesting evolutionarily conserved mechanisms. Our findings uncover novel biology and potential drug targets underlying brain development and disease.
Genome-wide analysis identifies variants associated with the volume of seven different subcortical brain regions defined by magnetic resonance imaging. Implicated genes are involved in neurodevelopmental and synaptic signaling pathways.
Journal Article
Early Amino Acids in Extremely Preterm Infants and Neurodisability at 2 Years
In a randomized, controlled trial involving infants with extremely low birth weight, parenteral amino acids at a dose of 1 g per day for 5 days after birth did not increase neurodisability-free survival at 2 years.
Journal Article
A Randomized Trial of Erythropoietin for Neuroprotection in Preterm Infants
In this multicenter, randomized trial involving extremely preterm infants, high-dose erythropoietin administered from 24 hours after birth through 32 weeks of postmenstrual age did not result in a lower risk of severe neurodevelopmental impairment or death at 2 years of age.
Journal Article
Maternal immune activation and neuroinflammation in human neurodevelopmental disorders
Maternal health during pregnancy plays a major role in shaping health and disease risks in the offspring. The maternal immune activation hypothesis proposes that inflammatory perturbations in utero can affect fetal neurodevelopment, and evidence from human epidemiological studies supports an association between maternal inflammation during pregnancy and offspring neurodevelopmental disorders (NDDs). Diverse maternal inflammatory factors, including obesity, asthma, autoimmune disease, infection and psychosocial stress, are associated with an increased risk of NDDs in the offspring. In addition to inflammation, epigenetic factors are increasingly recognized to operate at the gene–environment interface during NDD pathogenesis. For example, integrated brain transcriptome and epigenetic analyses of individuals with NDDs demonstrate convergent dysregulated immune pathways. In this Review, we focus on the emerging human evidence for an association between maternal immune activation and childhood NDDs, including autism spectrum disorder, attention-deficit/hyperactivity disorder and Tourette syndrome. We refer to established pathophysiological concepts in animal models, including immune signalling across the placenta, epigenetic ‘priming’ of offspring microglia and postnatal immune–brain crosstalk. The increasing incidence of NDDs has created an urgent need to mitigate the risk and severity of these conditions through both preventive strategies in pregnancy and novel postnatal therapies targeting disease mechanisms.The maternal immune activation (MIA) hypothesis proposes that inflammatory perturbations in utero can affect fetal neurodevelopment. This Review examines the emerging human evidence for an association between MIA and childhood neurodevelopmental disorders, including autism spectrum disorder, attention-deficit/hyperactivity disorder and Tourette syndrome.
Journal Article
Two-year outcome data suggest that less invasive surfactant administration (LISA) is safe. Results from the follow-up of the randomized controlled AMV (avoid mechanical ventilation) study
Less invasive surfactant administration (LISA) is a method to deliver surfactant to spontaneously breathing premature infants via a thin catheter. Here we report the two-year outcome from the AMV (avoid mechanical ventilation) study, the first randomized controlled trial on this mode of surfactant delivery. No statistically significant differences in weight, length or neurodevelopmental outcome (Bayley II scores) were found between the LISA intervention group (n = 95) and the control group (n = 84) that received standard treatment.Conclusion: No differences in outcome were observed at 2 years. LISA seems safe in that aspect.What is Known:• LISA is a method that is in increasing use for surfactant delivery to spontaneously breathing infants. LISA reduces the need for mechanical ventilation.What is New:• Outcome data at 2 years from the first randomized study with LISA raise no safety concerns in comparison to a group of infants that received standard treatment.
Journal Article
Altered TAOK2 activity causes autism-related neurodevelopmental and cognitive abnormalities through RhoA signaling
Atypical brain connectivity is a major contributor to the pathophysiology of neurodevelopmental disorders (NDDs) including autism spectrum disorders (ASDs). TAOK2 is one of several genes in the 16p11.2 microdeletion region, but whether it contributes to NDDs is unknown. We performed behavioral analysis on Taok2 heterozygous (Het) and knockout (KO) mice and found gene dosage-dependent impairments in cognition, anxiety, and social interaction. Taok2 Het and KO mice also have dosage-dependent abnormalities in brain size and neural connectivity in multiple regions, deficits in cortical layering, dendrite and synapse formation, and reduced excitatory neurotransmission. Whole-genome and -exome sequencing of ASD families identified three de novo mutations in TAOK2 and functional analysis in mice and human cells revealed that all the mutations impair protein stability, but they differentially impact kinase activity, dendrite growth, and spine/synapse development. Mechanistically, loss of Taok2 activity causes a reduction in RhoA activation, and pharmacological enhancement of RhoA activity rescues synaptic phenotypes. Together, these data provide evidence that TAOK2 is a neurodevelopmental disorder risk gene and identify RhoA signaling as a mediator of TAOK2-dependent synaptic development.
Journal Article