Polygenic scores for autism are associated with reduced neurite density in adults and children from the general population.

Genetic variants linked to autism are thought to change cognition and behaviour by altering the structure and function of the brain. Although a substantial body of literature has identified structural brain differences in autism, it is unknown whether autism-associated common genetic variants are linked to changes in cortical macro- and micro-structure. We investigated this using neuroimaging and genetic data from adults (UK Biobank, N = 31,748) and children (ABCD, N = 4928).

PTEN mutations impair CSF dynamics and cortical networks by dysregulating periventricular neural progenitors.

Enlargement of the cerebrospinal fluid (CSF)-filled brain ventricles (ventriculomegaly) is a defining feature of congenital hydrocephalus (CH) and an under-recognized concomitant of autism. Here, we show that de novo mutations in the autism risk gene PTEN are among the most frequent monogenic causes of CH and primary ventriculomegaly. Mouse Pten-mutant ventriculomegaly results from aqueductal stenosis due to hyperproliferation of periventricular Nkx2.

Social motor synchrony and interactive rapport in autistic, non-autistic, and mixed-neurotype dyads.

During social interactions, people often mirror each other's movements and gestures, a process called synchrony. This synchrony helps foster a sense of connection, understanding, and ease in communication. While research suggests that autistic people may show less synchrony in their movements compared to non-autistic people, the implications of this difference for building rapport remain unclear.

Associations Between Sociodemographic Predictors and Age of Referral for Autism Spectrum Disorder (ASD) Diagnosis Since the Beginning of the COVID-19 pandemic.

Purpose: Sociodemographic characteristics, such as race and ethnicity, are associated with delays in ASD diagnosis. However, limited literature has examined the characteristics associated with delayed diagnosis since the start of the COVID-19 pandemic. This study aimed to identify the individual and aggregate sociodemographic characteristics associated with the age at which a child receives a referral for a diagnosis (from March 2020 to May 2023) and evaluate the impacts of the pandemic on this association.

A Novel UPF1 Variant Associated With a Rare UPF1-Related Neurodevelopmental Disorder.

Nonsense-mediated mRNA decay (NMD) plays a crucial role in degrading aberrant transcripts with premature termination codons, with the Up-frameshift (UPF) protein family-UPF1, UPF2, and UPF3A/UPF3B-being vital components of this machinery. While several variants in genes encoding UPF2 and UPF3A/3B have been associated with neurodevelopmental disorders, only three germline UPF1 variants have been reported to date. Here, we report a male patient with a de novo missense variant, p.

Utility of the Modified Anxiety Dimensional Observation Scale in Autistic Preschoolers with Varying Intellectual Functioning.

Objective: Co-occurring anxiety affects 40-80% of autistic individuals; however, little is understood about how anxiety manifests in young autistic children, especially those with intellectual disability (ID), partly due to the paucity of measures designed to assess anxiety symptoms in this population. The present study examined the utility of the Modified Anxiety Dimensional Observation Scale (M-Anx-DOS), an observational measure of anxiety-related behaviors, in preschool-aged autistic children with and without ID.

Method: This study included 48 autistic children (Mean age = 43.

What Is the Depressive Mixed State?-Associated Factors Beyond Bipolarity.

Objectives: To elucidate the differences in associated factors beyond bipolarity between Benazzi's depressive mixed state (DMX), defined as a major depressive episode (MDE) with ≥ 3 manic/hypomanic symptoms, and the Diagnostic and Statistical Manual of Mental Disorders fifth edition criteria for mixed features (DSM-5-DMX), defined as an MDE with ≥ 3 non-overlapping manic/hypomanic symptoms.

Methods: The associations of DMX definitions with bipolarity, anxious distress (ANXD), autism spectrum disorder, attention-deficit hyperactivity disorder, and older age were retrospectively examined in 160 patients with MDEs.

Results: Benazzi's DMX and DSM-5-DMX were identified in 48.

Axonal motor polyneuropathy in a 13 years old Girl with a de Novo variant in ADNP.

ADNP-Related Disorder [previously known as Helsmoortel-Van der Aa syndrome (HVDAS)] is a rare genetic condition resulting from mutations in the activity-dependent neuroprotector homeobox (ADNP) gene. The ADNP protein has multiple functions, including serving as an essential transcription factor for brain development. In addition, pathogenic variants in ADNP have been recognized as one of the most frequent monogenic causes of autism spectrum disorder (ASD) and intellectual disability.

Navigating School Meal Environments: Perspectives of Pupils Diagnosed With Autism Spectrum Disorder or ADHD.

Busy and unstructured school environments can present challenges for pupils diagnosed with autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD). Although school restaurants may be demanding, limited research has focused on these pupils. This study explores how pupils diagnosed with ASD or ADHD navigate the physical, social, and pedagogical environments of school meals.

Erratum: Daily oscillation of the excitation/inhibition ratio is disrupted in two mouse models of autism.

[This corrects the article DOI: 10.1016/j.isci.

Role of androgen receptors in sexually dimorphic phenotypes in UBE3A-dependent autism spectrum disorder.

Autism spectrum disorders (ASDs) involve social, communication, and behavioral challenges. ASDs display a remarkable sex difference with a 4:1 male to female prevalence ratio; however, the underlying mechanism remains largely unknown. Using the UBE3A-overexpressing mouse model for ASD, we studied sexually dimorphic changes at behavioral, genetic, and molecular levels.

Unveiling the role of lncRNA ERDR1 in immune cell regulation.

Long non-coding RNAs (lncRNAs) are a class of RNA molecules that exceed 200 nucleotides in length and lack the capacity to encode proteins. In recent years, there has been a surge of interest in lncRNA research, leading to the discovery of their diverse structures and functions. This review focused on elucidating the regulatory roles of lncRNA erythroid differentiation regulatory 1 (Erdr1) within immune cells and its involvement in related disorders.

Variants in , encoding the presynaptic protein Bassoon, result in a novel neurodevelopmental disorder with a broad phenotypic range.

Disease-causing variants in synaptic function genes are a common cause of neurodevelopmental disorders and epilepsy. Here, we describe 14 individuals with disruptive variants in , which encodes the presynaptic protein Bassoon. To expand the phenotypic spectrum, we identified 15 additional individuals with protein-truncating variants (PTVs) from large biobanks.

Dynamics of infant white matter maturation from birth to 6 months.

The first months after a baby's birth encompass the most rapid period of postnatal change in the human lifespan, but longitudinal trajectories of white matter maturation in this period remain uncharted. Using densely sampled diffusion tensor images collected longitudinally at a mean rate of 1 scan per 1.55 days, we measured non-linear growth and growth rate trajectories of major white matter tracts from birth to 6 months.

A Massively Parallel CRISPR-Based Screening Platform for Modifiers of Neuronal Activity.

Understanding the complex interplay between gene expression and neuronal activity is crucial for unraveling the molecular mechanisms underlying cognitive function and neurological disorders. Here, we developed pooled screens for neuronal activity, using CRISPR interference (CRISPRi) and the fluorescent calcium integrator CaMPARI2. Using this screening method, we evaluated 1343 genes for their effect on excitability in human iPSC-derived neurons, revealing potential links to neurodegenerative and neurodevelopmental disorders.

Microalgae-based bacteria for oral treatment of ASD through enhanced intestinal colonization and homeostasis.

Exogenous supplementation of beneficial intestinal bacteria can alleviate the behavioural symptoms of psychiatric disorders, such as autism spectrum disorder (ASD), through gut-brain interactions. However, the application of beneficial bacteria, such as (), for treating ASD is hindered by limited gut colonization. Utilizing (SP) as a natural microcarrier for intestinal bacteria, a safer and more natural binding approach was employed to bind intestinal bacteria to the surface of SP to produce SP-intestinal bacteria.

Advances in chromosomal microarray analysis: Transforming neurology and neurosurgery.

Over the past two decades, genomics has transformed our understanding of various clinical conditions, with Chromosomal Microarray Analysis (CMA) standing out as a key technique. Offering unparalleled sensitivity, CMA detects submicroscopic chromosomal imbalances, enabling the examination of DNA for copy number variations, deletions, duplications, and other structural differences. In neurology, CMA has revolutionised diagnoses, personalised treatment plans, and patient outcomes.

Parent Outcomes from a Randomized Controlled Trial Investigating a Modular Behavioral Intervention for Young Autistic Children.

We assessed parent stress and competence outcomes from participation in a randomized controlled trial of a modular behavioral intervention (Modular Approach for Young Autistic Children; MAYAC) compared to a treatment-as-usual comprehensive behavioral intervention (CBI). Throughout their participation, parents of military families were included in their child's treatment (e.g.

Untangling the Molecular Mechanisms Contributing to Autism Spectrum Disorder Using Stem Cells.

Autism spectrum disorder (ASD) is a complex neuro developmental condition characterized by significant genetic and phenotypic variability, making diagnosis and treatment challenging. The heterogeneity of ASD-associated genetic variants and the absence of clear causal factors in many cases complicate personalized care. Traditional models, such as postmortem brain tissue and animal studies, have provided valuable insights but are limited in capturing the dynamic processes and human-specific aspects of ASD pathology.

Rapport in same and mixed neurotype groups of autistic and non-autistic adults.

Autistic adults sometimes get along better with other autistic people compared to non-autistic people, but so far this has only been studied in two-person interactions. This study examined how well autistic and non-autistic people develop rapport in a group setting and whether rapport differs when group members share or do not share a diagnosis. We assigned 143 adults to 36 groups of four adults each.

Synapse: A co-designed neurodivergent peer support programme for higher education settings.

Neurodivergent students may require support with the social aspects of university life. Peer mentoring describes a relationship where a more experienced student helps a less experienced student by providing advice, support and knowledge. It is an effective way to support students' transition to higher education.

Effects of Valproic Acid and Maternal Deprivation on Autism-Like Behaviours and Neurodevelopmental Outcomes in Female and Male Rats.

Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by persistent social communication deficits and restricted, repetitive behaviours, with significant overlap in anxiety-related symptoms. Both genetic and environmental factors contribute to the development of ASD, with early-life stressors, such as maternal separation (MS), and exposure to neurotoxic agents, like valproic acid (VPA), being key environmental contributors. This study investigates the combined impact of maternal deprivation (MD) and postnatal VPA exposure on autism-like behaviours and neurodevelopmental outcomes in male and female rats.

A Hypothesis: Metabolic Contributions to 16p11.2 Deletion Syndrome.

16p11.2 deletion syndrome is a severe genetic disorder associated with the deletion of 27 genes from a Copy Number Variant region on human chromosome 16. Symptoms associated include cognitive impairment, language and motor delay, epilepsy or seizures, psychiatric disorders, autism spectrum disorder (ASD), changes in head size and body weight, and dysmorphic features, with a crucial need to define genes and mechanisms responsible for symptomatology.

A Comprehensive Review on Utilizing Human Brain Organoids to Study Neuroinflammation in Neurological Disorders.

Most current information about neurological disorders and diseases is derived from direct patient and animal studies. However, patient studies in many cases do not allow replication of the early stages of the disease and, therefore, offer limited opportunities to understand disease progression. On the other hand, although the use of animal models allows us to study the mechanisms of the disease, they present significant limitations in developing drugs for humans.