Neurodevelopmental Disorders - Science topic

Background Children and adolescents and low-income individuals are considered particularly vulnerable for mental health implications during the current COVID-19 pandemic. Depression is a frequent negative emotional response during an epidemic outbreak and is also prone importantly to environmental risk like stressors derived from income inequality....

Background The concomitant role of the Central Executive, the Saliency and the Social Cognition networks in autism spectrum disorder (ASD) in demanding ecological tasks remains unanswered. We addressed this question using a novel task-based fMRI virtual-reality task mimicking a challenging daily-life chore that may present some difficulties to indi...

Background Autism spectrum disorder is a neurodevelopmental disorder, affecting 1–2% of children. Studies have revealed genetic and cellular abnormalities in the brains of affected individuals, leading to both regional and distal cell communication deficits. Methods Recent application of single-cell technologies, especially single-cell transcripto...

Background Autism spectrum disorder (ASD) is a group of complex neurodevelopment disorders with a strong genetic basis. Large scale sequencing studies have identified over one hundred ASD risk genes. Nevertheless, the vast majority of ASD risk genes remain to be discovered, as it is estimated that more than 1000 genes are likely to be involved in A...

Background SYNGAP1-related intellectual disability (ID) is a recently described neurodevelopmental disorder that is caused by pathogenic variation in the SYNGAP1 gene. To date, the behavioural characteristics of this disorder have mainly been highlighted via the prevalence of existing diagnoses in case series. We set out to detail the behavioural f...

Background The association between medically assisted reproduction and pregnancy planning on overall developmental outcomes of infants has been studied in relatively few studies. The availability of accurate tools for the early detection of developmental delays is a major issue. The purpose of this study is describing the average neurodevelopment o...

Myocyte Enhancer Factor 2 C (MEF2C), one of the transcription factors of the MADS-BOX family, is involved in embryonic brain development, neuronal formation and differentiation, as well as in the growth and pruning of axons and dendrites. MEF2C is also involved in the development of various neuropsychiatric disorders, such as autism spectrum disord...

Background Attention Deficit Hyperactivity Disorder (ADHD) is the most prevalent childhood neurodevelopmental disorder. It shares some genetic risk with Autism Spectrum Disorder (ASD), and the conditions often occur together. Both are potentially associated with abnormal glutamate and GABA neurotransmission, which can be modelled by measuring the s...

Background SLC6A1-related disorder is a recently identified, rare, genetic neurodevelopmental disorder that is associated with loss-of-function variants in SLC6A1. This gene encodes GABA transporter type I that is responsible for re-uptake of GABA from the synapse into the pre-synaptic terminal or circulating neuroglia. Based upon retrospective rev...

Background Several common conditions have been widely recognised as risk factors for COVID-19 related death, but risks borne by people with rare diseases are largely unknown. Therefore, we aim to estimate the difference of risk for people with rare diseases comparing to the unaffected. Method To estimate the correlation between rare diseases and C...

Background Prader-Willi syndrome (PWS), is a genetically determined neurodevelopmental disorder, associated with intellectual disabilities and a high incidence of obesity, diabetes mellitus, and respiratory disorders. We hypothesised that COVID-19, a viral infection which more severely affects people with these conditions, would, in people with PWS...

Protein kinases are responsible for protein phosphorylation and are involved in important signal transduction pathways; however, a considerable number of poorly characterized kinases may be involved in neuronal development. Here, we considered cyclin G-associated kinase (GAK) as a candidate regulator of neurite outgrowth and synaptogenesis by exami...

Introduction Neurofibromatosis type 1 (NF1) is considered a model of neurodevelopmental disorder because of the high frequency of learning deficits, especially developmental coordination disorder. In neurodevelopmental disorder, Nicolson and Fawcett formulated the hypothesis of an impaired procedural learning system that has its origins in cortico-...

Background: The genetic disorder tuberous sclerosis complex (TSC) is frequently accompanied by the development of neuropsychiatric disorders, including autism spectrum disorder and intellectual disability, with varying degrees of impairment. These co-morbidities in TSC have been linked to the structural brain abnormalities, such as cortical tubers...

Background SATB2-associated syndrome (SAS) is a multisystem neurodevelopmental disorder characterised by intellectual disability, speech delay, and craniofacial anomalies. Although the clinical presentation of SAS is well-delineated, behaviours associated with SAS are less well-defined. Given the varied social profile reported in SAS of a ‘jovial’...

Background The development of advanced genetic technologies has resulted in rapid identification of genetic etiologies of neurodevelopmental disorders (NDDs) and has transformed the classification and diagnosis of various NDDs. However, diagnostic genetics has far outpaced our ability to provide timely medical counseling, guidance, and care for pat...

Schizophrenia, a debilitating disorder with typical manifestation of clinical symptoms in early adulthood, is characterized by cognitive impairments in executive processes such as in working memory (WM). However, there is a rare case of individuals with early-onset schizophrenia (EOS) starting before their 18th birthday, while WM and its neural sub...

Background The genetic background of trait variability has captured the interest of ecologists and animal breeders because the genes that control it could be involved in buffering various environmental effects. Phenotypic variability of a given trait can be assessed by studying the heterogeneity of the residual variance, and the quantitative trait...

Background We previously showed that continued folic acid (FA) supplementation beyond the first trimester of pregnancy appears to have beneficial effects on neurocognitive performance in children followed for up to 11 years, but the biological mechanism for this effect has remained unclear. Using samples from our randomized controlled trial of foli...

Background Myhre syndrome (MS) is a rare genetic disease characterized by skeletal disorders, facial features and joint limitation, caused by a gain of function mutation in SMAD4 gene. The natural history of MS remains incompletely understood. Methods We recruited in a longitudinal retrospective study patients with molecular confirmed MS from the...

Background The US guidelines recommend avoiding marijuana during breastfeeding given concerns about infant’s neurodevelopment. In this setting, some physicians and hospitals recommend against or prohibit breastfeeding when marijuana use is detected during pregnancy. However, breastfeeding is beneficial for infants and women, and stigmatization of s...

Objective To interpret the current evidence on the prevalence of neurodevelopmental disorders (NDDs) through a systematic review based on both DSM-5 (2013) and PRISMA criteria. Method Empirical studies complying with the PRISMA guidelines were identified from four databases (PubMed, Scopus, Science Direct, and ProQuest) and systematically reviewed...

Background Rett syndrome (RTT) is a neurodevelopmental disorder most often related to a pathogenic variant in the X-linked MECP2 gene. Internalizing behaviors appear to be common, but standard methods of diagnosing anxiety are not readily applied in this population which typically has cognitive impairment and limited expressive language. This study...

Studying the etiology of human neurodevelopmental diseases has long been a challenging task due to the brain’s complexity and its limited accessibility. Human pluripotent stem cells (hPSCs)-derived brain organoids are capable of recapitulating various features and functionalities of the human brain, allowing the investigation of intricate pathogene...

Purpose Cerebral palsy is a common childhood neurodevelopmental disorder. The estimated prevalence of cerebral palsy in India ranges from 2.1 to 3 per 1000 live births as per published literature. The present study was aimed to study socio-demographic and clinical profiles of cerebral palsy children in the Gujarat state of India. Materials and met...

Background Heterogeneity in neurodevelopmental disorders, and attention deficit hyperactivity disorder (ADHD) in particular, is increasingly identified as a barrier to identifying biomarkers and developing standards for clinical care. Clustering analytic methods have previously been used across a variety of data types with the goal of identifying m...

Infant brain magnetic resonance imaging (MRI) is a promising approach for studying early neurodevelopment. However, segmenting small regions such as limbic structures is challenging due to their low inter-regional contrast and high curvature. MRI studies of the adult brain have successfully applied deep learning techniques to segment limbic structu...

Coenzyme Q8A encodes the homologue of yeast coq8 , an ATPase that is required for the biosynthesis of Coenzyme Q10, an essential component of the electron transport chain. Mutations in COQ8A in humans result in CoQ10 deficiency, the clinical features of which include early-onset cerebellar ataxia, seizures and intellectual disability. The rapid adv...

Background Neurodevelopmental disorders (NDDs) are a group of heterogeneous conditions, which include mainly intellectual disability, developmental delay (DD) and autism spectrum disorder (ASD), among others. These diseases are highly heterogeneous and both genetic and environmental factors play an important role in many of them. The introduction o...

Background Preterm extremely low birth weight infants (ELBWi) are known to be at greater risk of developing neuropsychiatric diseases. Identifying early predictors of outcome is essential to refer patients for early intervention. Few studies have investigated neurodevelopmental outcomes in Italian ELBWi. This study aims to describe neurodevelopment...

A wide variety of model systems and experimental techniques can provide insight into the structure and function of the human brain in typical development and in neurodevelopmental disorders. Unfortunately, this work, whether based on manipulation of animal models or observational and correlational methods in humans, has a high attrition rate in tra...

Background Although survival rates for infants born extremely preterm (gestation < 28 weeks) have improved significantly in recent decades, neurodevelopmental impairment remains a major concern. Children born extremely preterm remain at high risk for cognitive impairment from early childhood to adulthood. However, there is limited evidence on genet...

Background Mental retardation is a complex neurodevelopmental disorder. NPAT , a component of the histone locus body (HLB), has been implicated as a candidate gene for mental retardation, with a mechanism yet to be elucidated. Results We identified that mxc , the Drosophila ortholog of NPAT , is required for the development of nervous system. Knoc...

Background Speech is the most common modality through which language is communicated, and delayed, disordered, or absent speech production is a hallmark of many neurodevelopmental and genetic disorders. Yet, speech is not often carefully phenotyped in neurodevelopmental disorders. In this paper, we argue that such deep phenotyping, defined as pheno...

Aicardi syndrome is an X-linked-dominant genetic condition that is present almost exclusively in females. To diagnose Aicardi syndrome, the classic triad of agenesis of the corpus callosum, infantile spasms, and chorioretinal lacunae must be present. Here, we described a case of a female newborn baby delivered at 36 weeks of gestation that arrived...

Objective: We evaluated the best time to initiate delivery in late preterm pre-eclampsia in order to optimise long-term infant and maternal outcomes. Design: Parallel-group, non-masked, randomised controlled trial SETTING: 46 UK maternity units POPULATION: Women with pre-eclampsia between 34+0 and 36+6 weeks' gestation, without severe disease, w...

Sensory regulation, the ability to select and process sensory information to plan and perform appropriate behaviours, provides a foundation for learning. From early in development, infants manifest differences in the strategies used for sensory regulation. Here, we discuss the nature and characteristics of sensory seeking, a key behavioural strateg...

There is increasing recognition of the heterogeneity of origin of cases of autism spectrum disorder (ASD) with multiple forms of ASD having been identified over the decades. Among these, a genetic etiology can be identified in 20–40% of cases when a full genetic work-up is completed. The Fragile X premutation state (characterized by the presence of...

Autism spectrum disorder (ASD) is a developmental disorder characterised by deficits in social interactions and communication, with stereotypical and repetitive behaviours. Recent evidence suggests that maternal immune dysregulation may predispose offspring to ASD. Independent samples t-tests revealed downregulation of IL-17A concentrations in case...

Purpose For decades, consistent associations between breastfeeding and children’s neurodevelopment have been attributed to breastmilk content in long-chain polyunsaturated fatty acids (LC-PUFAs). However, the beneficial effect of LC-PUFA enrichment of infant formula on neurodevelopment remains controversial. This study examined the association of L...

This study examined the early pragmatic language skills in typically developing (TD) preschool-age children, children with language impairment (LI) and children with autism spectrum disorder (ASD). Two hundred and sixty-two TD children, 73 children with LI, and 16 children with ASD were compared on early pragmatics through direct assessment (DA). P...

Purpose of Review Parental occupational exposures might be associated with neurodevelopmental disorders (NDDs) in offspring. We aimed to conduct a systematic review and meta-analysis to summarize and synthesize the current literature and to estimate the pooled magnitude of the underlying association(s) between parental occupational exposures and su...

Relatively little has been published about the prevalence of autism in adults with psychiatric disorders. In this study, all new patients referred to an adult psychiatric outpatient clinic in Sweden between November 2019 and October 2020 (n = 562) were screened for autism spectrum disorders using the Ritvo Autism and Asperger Diagnostic Scale Scree...

The human vesicular monoamine transporter 1 (VMAT1) harbors unique substitutions (Asn136Thr/Ile) that affect monoamine uptake into synaptic vesicles. These substitutions are absent in all known mammals, suggesting their contributions to distinct aspects of human behavior modulated by monoaminergic transmission, such as emotion and cognition. To dir...

Recent work on neuroimaging has demonstrated significant benefits of using population graphs to capture non-imaging information in the prediction of neurodegenerative and neurodevelopmental disorders. These non-imaging attributes may not only contain demographic information about the individuals, e.g. age or sex, but also the acquisition site, as i...

Standardized, norm-referenced language assessment tools are used for a variety of purposes, including in education, clinical practice, and research. Unfortunately, norm-referenced language assessment tools can demonstrate floor effects (i.e., a large percentage of individuals scoring at or near the lowest limit of the assessment tool) when used wit...

Background Court Mental Health Liaison and Diversion Services (CMHLDS) have developed in some countries as a response to the over-representation of mental illness and other vulnerabilities amongst defendants presenting to criminal justice (or correctional) systems. This study examined the characteristics and rates of mental disorder of 9088 defenda...

Background: Neurodevelopmental disorders comprise a clinically and genetically heterogeneous group of conditions that affect 2%–5% of children and represents a public health challenge due to complexity of the etiology. Only few patients with unexplained syndromic and non-syndromic NDDs receive a diagnosis through first-tier genetic tests as array-C...

At the onset of the COVID-19 pandemic in early 2020 in South Africa, many safety measures were implemented to protect the lives of the population. Ironically, these same safety measures have negatively impacted on the lives of children and their caregivers resulting in increased mental health problems. This study forms part of the multicountry Co-S...

Bipolar Disorder (BD) and Attention Deficit and Hyperactivity Disorder (ADHD) are mental disorders with high degree of lifetime comorbidity. Both BD and ADHD are disorders with onset in childhood and early adolescence. Both disorders are often undiagnosed, misdiagnosed, and sometimes overdiagnosed, leading to high rates of morbidity and disability....

Introduction: Autism spectrum disorder (ASD) is a neurodevelopmental disorder with clinical presentation and prognostic heterogeneity. Ferroptosis is a regulated non-apoptotic cell death program implicated in the occurrence and progression of various diseases. Therefore, we aimed to explore ferroptosis-related molecular subtypes in ASD and further...

Background Mutations in the STAMBP gene, which encodes a deubiquitinating isopeptidase called STAM-binding protein, are related to global developmental delay, microcephaly, and capillary malformation. Owing to the limited number of reported cases, the functional and phenotypic characteristics of STAMBP variants require further elucidation. Materia...

Background Air pollution has been associated with neurodevelopmental disorders in epidemiological studies. In our studies in mice, developmental exposures to ambient ultrafine particulate (UFP) matter either postnatally or gestationally results in neurotoxic consequences that include brain metal dyshomeostasis, including significant increases in br...

In metazoans, topoisomerase 3β (TOP3B) regulates R-loop dynamics and mRNA translation, which are critical for genome stability, neurodevelopment and normal aging. As a Type IA topoisomerase, TOP3B acts by general acid-base catalysis to break and rejoin single-stranded DNA. Passage of a second DNA strand through the transient break permits dissipati...

Over the last years, a constantly increasing number of genetic diseases associated with epilepsy and movement disorders have been recognized. An emerging group of conditions in this field is represented by genetic disorders affecting G-protein-coupled receptors (GPCRs)–cAMP signaling. This group of postsynaptic disorders includes genes encoding for...

Prader–Willi syndrome (PWS) is a complex neurodevelopmental disorder caused by the deletion or inactivation of paternally expressed imprinted genes at the chromosomal region 15q11–q13. The PWS-critical region (PWScr) harbors tandemly repeated non-protein coding IPW-A exons hosting the intronic SNORD116 snoRNA gene array that is predominantly expres...