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Neurodevelopmental Disorders - Science topic

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Publications related to Neurodevelopmental Disorders (10,000)
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The SCN2A gene, which encodes the neuronal voltage-gated sodium channel Nav1.2, is a major genetic risk factor for neurodevelopmental disorders, including epilepsy and autism spectrum disorder. Nav1.2 is expressed in axon initial segments and dendrites, where it drives action potential initiation and propagation. Pathogenic SCN2A variants impact Na...
Article
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Background: The incidence of autism spectrum disorder (ASD) has been increasing steadily, thus posing a substantial public health concern in Thailand and globally. Individuals with ASD, who frequently experience challenges related to their behavior and emotions, have neurodevelopmental disorders. The Aberrant Behavior Checklist (ABC) represents one...
Chapter
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Autism Spectrum Disorder (ASD) is a spectrum of neurodevelopmental disorders marked by impairments in social interactions, communication, hypersensitivity, and systematic patterns of behavior. Although the large majority of individuals with ASD are law-abiding, many individuals with ASD continue to become involved in the criminal-legal system as de...
Article
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Mounting evidence indicates that the gut microbiota influences the neurodevelopment and behavior of insects through the gut-brain axis. However, it is currently unclear whether the gut microbiota affect the head profiles and immune pathway in pests. Here, we find that gut bacteria is essential for the immune and neural development of adult Spodopte...
Article
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Brain structural change associated with Cognitive Behavioral Therapy in maltreated children, Brain Research (2023), doi: https://doi. Abstract Background: Severely maltreatment child is a harmful social factor that can disrupt normal neurodevelopment. Two commonly reported effects of maltreatment are post-traumatic stress disorder (PTSD) symptoms a...
Article
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Inflammation during pregnancy may occur due to various factors. This condition, in which maternal immune system activation occurs, can affect fetal brain development and be related to neurodevelopmental diseases. MIA interacts with the fetus’s brain development through maternal antibodies, cytokines, chemokines, and microglial cells. Antibodies are...
Article
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Autism spectrum disorder (ASD) is a complex disorder of neurodevelopment, the function of long noncoding RNA (lncRNA) in ASD remains essentially unknown. In the present study, gene networks were used to explore the ASD disease mechanisms integrating multiple data types (for example, RNA expression, whole-exome sequencing signals, weighted gene co-e...
Article
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Loss-of-function of DDX3X is a leading cause of neurodevelopmental disorders (NDD) in females. DDX3X is also a somatically mutated cancer driver gene proposed to have tumour promoting and suppressing effects. We perform saturation genome editing of DDX3X, testing in vitro the functional impact of 12,776 nucleotide variants. We identify 3432 functio...
Article
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Background Fetal Alcohol Spectrum Disorder (FASD) is the leading cause of non-genetic intellectual disability and social maladjustment in children. International guidelines recommend abstinence from alcohol during pregnancy. Réunion is the most affected of all French regions with an estimated Fetal Alcohol Spectrum (FAS) prevalence of 1.2‰ births....
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Background Early negative life events (NLE) have long‐lasting influences on neurodevelopment and psychopathology. Reduced orbitofrontal cortex (OFC) thickness was frequently associated with NLE and depressive symptoms. OFC thinning might mediate the effect of NLE on depressive symptoms, although few longitudinal studies exist. Using a complete long...
Article
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Autism spectrum disorder (ASD), Tourette syndrome (TS), and attention-deficit/hyperactivity disorder (ADHD) display strong male sex bias, due to a combination of genetic and biological factors, as well as selective ascertainment. While the hemizygous nature of chromosome X (Chr X) in males has long been postulated as a key point of “male vulnerabil...
Article
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It is known that the rate of caesarean section (C-section) has been increasing among preterm births. However, the relationship between C-section and long-term neurological outcomes is unclear. In this study, we utilized diffusion tensor imaging (DTI) to characterize the association of delivery method with brain white matter (WM) microstructural int...
Article
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Data on schizophrenia (SZ), epilepsy (EPD) and bipolar disorders (BPD) suggested an association of DNMT1 overexpression whereas certain variants of the gene were predicted to result in its increased expression in autism spectrum disorder (ASD). In addition, loss of DNMT1 in frontal cortex resulted in behavioral abnormalities in mice. Here we invest...
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The field of human microbiome and gut microbial diversity research has witnessed a profound transformation, driven by advances in omics technologies. These advancements have unveiled essential connections between microbiome alterations and severe conditions, prompting the development of new frameworks through epidemiological studies. Traditionally,...
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Approximately 6 million youth aged 12 to 20 consume alcohol monthly in the United States. The effect of alcohol consumption in adolescence on behavior and cognition is heavily researched; however, little is known about how alcohol consumption in adolescence may alter brain function, leading to long-term developmental detriments. In order to investi...
Article
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Desde la presentación de los 11 casos de autismo por Leo Kanner en 1943, esta discapacidad ha sido motivo de innumerables investigaciones, publicaciones y cambios tanto a nivel diagnóstico como de intervención, muchas veces controversiales que si bien han permitido conocer y aclarar diferentes aspectos del cuadro también han ocasionado confusión so...
Preprint
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ADHD is a prevalent neurodevelopmental disorder associated with adverse outcomes and significant social and economic cost. However, efforts to develop a more detailed understanding of the neuropsychology of ADHD are complicated by the diversity of interindividual presentation and the inability of current clinical tests to distinguish between its se...
Preprint
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During neuroinflammation, the proinflammatory cytokine Interleukin-1β (IL-1β) impacts blood-brain barrier (BBB) function by disrupting brain endothelial tight junctions, promoting vascular permeability, and increasing transmigration of immune cells. Here, we examined the effects of Il-1β on the in vivo development of the BBB. We generated a doxycyc...
Preprint
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Differentiation of induced pluripotent stem cells (iPSC) towards different neuronal lineages has enabled diverse cellular models of human neurodevelopment and related disorders. However, in vitro differentiation is a variable process that frequently leads to heterogeneous cell populations that may confound disease-relevant phenotypes. To characteri...
Article
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Human newborns are considered altricial compared with other primates because they are relatively underdeveloped at birth. However, in a broader comparative context, other mammals are more altricial than humans. It has been proposed that altricial development evolved secondarily in humans due to obstetrical or metabolic constraints, and in associati...
Preprint
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Selective vulnerability offers a conceptual framework for understanding neurodegenerative disorders, such as Parkinson's disease, where specific neuronal types are selectively affected while adjacent ones are spared. The applicability of this framework to neurodevelopmental disorders remains uncertain, particularly those characterized by atypical s...
Article
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Background The recent guidelines suggest the use of genome‐wide analyses, such as whole exome sequencing (WES), at the beginning of the diagnostic approach for cases with suspected genetic conditions. However, in many realities it still provides for the execution of a multi‐step pathway, thus requiring several genetic tests to end the so‐called ‘di...
Article
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Dyslexia is among the most common neurodevelopmental disorders in children, yet despite its high prevalence all too frequently goes undiagnosed. Consequently dyslexic children all too often fail to receive effective reading interventions. Here we report our findings from a study using a teacher completed evidence-based dyslexia screener to first sc...
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b> Introduction: The effects of hydrocortisone (HDC) administration to extremely low birth weight (ELBW) infants on later development remain unclear. This study examined the association between HDC dosage during neonatal period and neurodevelopmental outcomes in ELBW infants. Methods: This study was a retrospective cohort study conducted in eight c...
Article
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Fragile X syndrome (FXS) is a genetic neurodevelopmental disorder characterized by intellectual disability and is related to autism. FXS is caused by mutations of the fragile X messenger ribonucleoprotein 1 gene (Fmr1) and is associated with alterations in neuronal network excitability in several brain areas including hippocampus. The loss of fragi...
Article
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Psychological health disorders during pregnancy can cause poor pregnancy outcomes in the form of complications including the risk of preterm labor, delays in the delivery process, low birth weight, hypertension and impaired fetal neurodevelopment and development. The risk of these complications can be reduced by improving the factors that affect th...
Article
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Sudden unexpected infant death may be explained, cause by an etiology, unexplained but insufficiently investigated, or unexplained when a full investigation fails to determine the cause. Unexplained sudden death in infancy or sudden infant death syndrome particularly affects the most vulnerable populations. The death of these children who are born...
Article
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The COVID-19 pandemic may have exacerbated depression, anxiety, and executive function (EF) difficulties in children with autism spectrum disorder (ASD). EF skills have been positively associated with mental health outcomes. Here, we probed the psychosocial impacts of pandemic responses in children with and without ASD by relating pre-pandemic EF a...
Article
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Background Haemodynamic changes in caval venous flow distribution occurring during bidirectional cavopulmonary anastomosis operation are still largely unknown. Methods Transit time flow measurements were performed in 15 cavopulmonary anastomosis operations. Superior and inferior caval vein flows were measured before and after the cavopulmonary ana...
Article
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Introduction Attention deficit hyperactivity disorder (ADHD) is considered one of the most common neurodevelopmental disorders in childhood and adolescence. Pharmacological treatment plays an important part in the therapy of the disorder and verifying the effectiveness of ADHD medication is essential throughout the course of treatment. QbTest is a...
Article
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O Transtorno do Déficit de Atenção e Hiperatividade (TDAH) é um distúrbio neurobiológico que possui uma base genética e é influenciado por fatores ambientais, a neurofisiopatologia é caracterizada por diferenças morfológicas e funcionais no cérebro, alterações na neurotransmissão de catecolaminas e envolvimento de vários sistemas neurotransmissores...
Article
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Mutations in the PQBP1 gene (polyglutamine-binding protein-1) are responsible for a syndromic X-linked form of neurodevelopmental disorder (XL-NDD) with intellectual disability (ID), named Renpenning syndrome. PQBP1 encodes a protein involved in transcriptional and post-transcriptional regulation of gene expression. To investigate the consequences...
Preprint
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Background: Copy number variations (CNVs) are genetic variants that can have substantial influence on neurodevelopment, neuropsychiatric traits and morphometric brain changes, yet their impact at the individual level remains unknown. Common case-control approaches for analyzing CNVs often overlook individual variation between carriers and exclude r...
Article
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Background Biallelic variants in OGDHL, encoding part of the α-ketoglutarate dehydrogenase complex, have been associated with highly heterogeneous neurological and neurodevelopmental disorders. However, the validity of this association remains to be confirmed. A second OGDHL patient cohort was recruited to carefully assess the gene-disease relation...
Article
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Lissencephaly (LIS) is a rare neurodevelopmental disorder with severe symptoms caused by abnormal neuronal migration during cortical development. It is caused by both genetic and non-genetic factors. Despite frequent studies about the cortex, comprehensive elucidation of structural abnormalities and their effects on the white matter is limited. The...
Article
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O Transtorno do Espectro Autista (TEA) é pertencente a categoria dos transtornos do neurodesenvolvimento, sendo caracterizado com comportamentos estereotipados, dificuldade na fala e na aquisição de novas habilidades, estima-se que 90-95% dos diagnósticos são de origem idiopática, as anormalidades podem ser percebidas antes dos 3 anos de idade, e s...
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Chromosomal submicroscopic imbalances represent well-known causes of neurodevelopmental disorders. In some cases, these can cause specific autosomal dominant syndromes, with high-to-complete penetrance and de novo occurrence of the variant. In other cases, they result in non-syndromic neurodevelopmental disorders, often acting as moderate-penetranc...
Preprint
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Background The neurobiological underpinnings of Autism Spectrum Disorder (ASD) are diverse and likely multifactorial. One possible mechanism is increased oxidative stress leading to altered neurodevelopment and brain function. However, this hypothesis has mostly been tested in post-mortem studies. So far, available in vivo studies in autistic indiv...
Article
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Introduction Verbal language is one of the most immediate and significant means parents have to express affect and information to their children. Parental speech directed to children has been thoroughly examined in typical development. However, the characteristics of parental speech directed to children with neurodevelopmental disorders are far les...
Article
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In this study, attention deficit hyperactivity disorder (ADHD), a childhood neurodevelopmental disorder, is being studied alongside its comorbidity, conduct disorder (CD), a behavioral disorder. Because ADHD and CD share commonalities, distinguishing them is difficult, thus increasing the risk of misdiagnosis. It is crucial that these two condition...
Article
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Background Early-onset pharyngeal airway collapse (PAC) in infants, which presents with onset within 6-months old is relatively rare. This disease has not been given enough attention in clinic. The aim of this study was to explore the clinical features, endoscopic findings and outcomes of early-onset PAC in infants. Methods The children of PAC wit...
Article
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Pluripotent stem cell (PSC)-derived human brain organoids enable the study of human brain development in vitro. Typically, the fate of PSCs is guided into subsequent specification steps through static medium switches. In vivo, morphogen gradients are critical for proper brain development and determine cell specification, and associated defects resu...
Article
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Primary microcephaly (MCPH) is a congenital, static, and non-progressive neurodevelopmental disorder associated with reduced head circumference (< 4 standard deviations). About 28 known genes are associated with the MCPH. The study was carried out to probe molecular basis and genetic variants involved with MCPH in an affected Pakistani famil...
Article
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Introduction: Kleefstra Syndrome type 2 (KLEFS-2) is a genetic, neurodevelopmental disorder characterized by intellectual disability, infantile hypotonia, severe expressive language delay, and characteristic facial appearance, with a spectrum of other distinct clinical manifestations. Pathogenic mutations in the epigenetic modifier type 2 lysine me...
Article
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STXBP1-related disorders are among the most common genetic epilepsies and neurodevelopmental disorders. However, the longitudinal epilepsy course and developmental end points, have not yet been described in detail, which is a critical prerequisite for clinical trial readiness. Here, we assessed 1281 cumulative patient-years of seizure and developme...
Article
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Trofinetide is the first drug to be approved for the treatment of Rett syndrome, a neurodevelopmental disorder. The purpose of the study is to fully characterize the metabolic and excretion profiles of trofinetide in humans. This Phase 1, open-label, single-dose trial conducted in healthy male adults was designed to characterize the pharmacokinetic...
Article
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The multigenerational effects of grandparental exposures on their grandchildren’s mental health and neurodevelopment are gaining research attention. We conducted a scoping review to summarize the current epidemiological studies investigating pregnancy-related and environmental factors that affected grandparental pregnancies and mental health outcom...
Article
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Sleep disturbances are complex elements of many neurodevelopmental disorders, such as autism spectrum disorder (ASD), attention-deficit/hyperactivity disorder (ADHD), intellectual and developmental disabilities, and insomnia. Sleep disturbances are caused by a variety of factors, resulting in short-term and long-term consequences that can affect se...
Article
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Sociality is an instinctive property of organisms that live in relation to others and is a complex characteristic of higher order brain functions. However, the evolution of the human brain to acquire higher order brain functions, such as sociality, and the neural basis for executing these functions and their control mechanisms are largely unknown....
Article
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Autism spectrum disorder (ASD) is a neurodevelopmental disorder that includes autism, Asperger’s syndrome, and pervasive developmental disorder. ASD is characterized by poor interpersonal relationships and strong attachment. The correlations between activated or inactivated gene products, which occur as a result of genetic mutations affecting neuro...
Preprint
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When dysfunctions occur at some stage (or several stages) in the development of the nervous system, so-called NEURODEVELOPMENTAL DISORDERS OF CHILDHOOD arise. Childhood neurodevelopmental disorders lead to or coexist with other medical, emotional and, importantly, neuropsychological conditions. This post will focus on describing the NEUROPSYCHOLOGI...
Article
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Purpose of Review In this narrative review, the early interplay between olfaction and vision is analysed, highlighting clinical effects of its manipulation in typical subjects and in presence of visual disorders. In addition, new methods of early intervention, based on this multisensory interaction, and their applications on different infant popula...
Article
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Machine Learning (ML) is nowadays an essential tool in the analysis of Magnetic Resonance Imaging (MRI) data, in particular in the identification of brain correlates in neurological and neurodevelopmental disorders. ML requires datasets of appropriate size for training, which in neuroimaging are typically obtained collecting data from multiple acqu...
Article
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Spatial transcriptomics (ST) technologies generate multiple data types from biological samples, namely gene expression, physical distance between data points, and/or tissue morphology. Here we developed three computational-statistical algorithms that integrate all three data types to advance understanding of cellular processes. First, we present a...
Article
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Citation: Chamorro, F.; Otero, P.; Carpena, M.; Fraga-Corral, M.; Echave, J.; Seyyedi-Mansour, S.; Cassani, L.; Prieto, M.A. Health Abstract: Oily fish is a rich source of energy, proteins, essential amino acids, lipids, vitamins, and minerals. Among the macronutrients with the highest contribution are lipids, mainly long-chain omega 3 polyunsatura...
Article
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Cerebral palsy (CP) is a neurodevelopmental disorder characterized by motor and postural impairments. However, early brain injury can promote deleterious effects on the hippocampus, impairing memory. This study aims to investigate the effects of resveratrol treatment on memory, anxiety-like behavior, and neuroinflammation markers in rats with CP. M...
Article
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Attention is a crucial cognitive function that enables us to selectively focus on relevant information from the surrounding world to achieve our goals. Impairments in sustained attention pose challenges, particularly in children with attention deficit hyperactivity disorder, a neurodevelopmental disorder characterized by impulsive and inattentive b...
Article
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Background SHANK2 encodes a postsynaptic scaffolding protein involved in synapse formation, stabilization and homeostasis. Variations or microdeletions in the SHANK2 gene have been linked to a variety of neurodevelopmental disorders, including autism spectrum disorders (ASD) and mild to moderate intellectual disability (ID) in human. However, the n...
Chapter
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Language is one of the pivotal tools through which human experiences are formed. However, children diagnosed with neurodevelopmental disorders face challenges in developing normative communication skills, leading to discrimination and marginalization ni a neurotypical society. This paper offers a review of a few current research work on Human- mach...
Article
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ELife digest Cells in the brain are wired together like an electric circuit that can relay information from one area of the brain to the next. Even when sleeping, the human brain continues to send signals to process information it has encountered during the day. This results in two patterns of electrical activity that define the sleeping brain: slo...
Conference Paper
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ADHD, a neurodevelopmental disorder characterized by hyperactivity, inattention, and impulsivity, has many detrimental impacts and is out of proportion to age. ADHD causes executive failure and emotional instability, which can lower academic performance. We propose a machine learning and artificial intelligence-driven approach to diagnose and early...
Article
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Biallelic genetic variants in N -acetylneuraminic acid synthase ( NANS ), a critical enzyme in endogenous sialic acid biosynthesis, are clinically associated with neurodevelopmental disorders. However, the mechanism underlying the neuropathological consequences has remained elusive. Here, we found that NANS mutation resulted in the absence of both...
Article
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Human induced pluripotent stem cells (hiPSCs) have been used extensively in vitro to model early events in neurodevelopment. Because of a number of shortcomings, previous work has established a potential to use these cells in vivo after transplantation into the mouse brain. Here, we describe a systematic approach for the analysis of transplanted hi...
Article
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Background Neurodevelopmental disorders (NDDs) are a group of conditions that include attention-deficit/hyperactivity disorders, specific learning disorders, autism spectrum disorder, intellectual disability, and other disorders. Raising a child with an NDD can be difficult because it affects the social lives of the parents and their relationships....
Article
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Introduction The effect of prenatal cannabis exposure (PCE) on childhood neurodevelopment remains poorly understood. There is a paucity of studies describing the neurodevelopment impact of PCE in infancy. The Mullen Scale of Early Learning (MSEL) is a cognitive screening tool that can be used from birth to 68 months and includes language and motor...
Article
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Importance Exome sequencing (ES) has been established as the preferred first line of diagnostic testing for certain neurodevelopmental disorders, such as global developmental delay and autism spectrum disorder; however, current recommendations are not specific to or inclusive of congenital hydrocephalus (CH). Objective To determine the diagnostic...