Preventative treatment of tuberous sclerosis complex with sirolimus: Phase I safety and efficacy results.

Objective: Tuberous sclerosis complex (TSC) results from overactivity of the mechanistic target of rapamycin (mTOR). Sirolimus and everolimus are mTOR inhibitors that treat most facets of TSC but are understudied in infants. We sought to understand the safety and potential efficacy of preventative sirolimus in infants with TSC.

Exploring the relationship among hikikomori tendencies, autistic traits, computer game use and eating disorder symptoms.

Objective: The hikikomori phenomenon has recently gained growing global interest, and evidences of its association with other psychopathological dimensions are slowly but steadily emerging. We aimed to evaluate the presence and correlates of hikikomori tendencies in an Italian University population, focusing on its relationships with autism spectrum, pathological computer gaming, and eating disorders. In particular, to our knowledge, no study has yet systematically evaluated the latter association, using psychometric instruments tailored to assess eating disorder symptoms.

Comparative profiling of white matter development in the human and mouse brain reveals volumetric deficits and delayed myelination in Angelman syndrome.

Background: Angelman syndrome (AS), a severe neurodevelopmental disorder resulting from the loss of the maternal UBE3A gene, is marked by changes in the brain's white matter (WM). The extent of WM abnormalities seems to correlate with the severity of clinical symptoms, but these deficits are still poorly characterized or understood. This study provides the first large-scale measurement of WM volume reduction in children with AS.

Woman in the brain, or the fraught relationship between feminism and mental health.

This article explores the complicated relationship between feminism and women's mental health. I discuss the differences and convergences between neurodiversity and mental health and how feminist theory has approached these topics. While contrasting the pathologisation that mental health disciplines can apply to women, feminism has often reduced mental health conditions to mere manifestations of patriarchy.

Role of peroxisome proliferator-activated receptors α and γ in mediating the beneficial effects of β-caryophyllene in a rat model of fragile X syndrome.

β-Caryophyllene (BCP) is a naturally occurring sesquiterpene found in numerous plant species, including Cannabis sativa. BCP has shown a high safety profile and a wide range of biological functions, including beneficial effects in neurodegenerative and inflammatory diseases. Here, we used behavioral, pharmacological, and in-silico docking analyses to investigate the effects and mechanism of action of BCP in Fragile X Syndrome (FXS), the most common inherited cause of Autism Spectrum Disorder (ASD) and intellectual disability.

Neurodevelopmental disorders in children with cleft lip and palate: a systematic review.

Individuals with orofacial clefts (OFCs) may be at an increased risk of developing autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD). This systematic review provides a summary of the most recent data regarding the prevalence of ASD and ADHD in the OFC population and compares this to the general paediatric population. Multiple databases were searched including PubMed/Medline and Embase in July 2024, following the Preferred Reporting Items for Systematic Reviews and Meta-analyses guidelines and was registered in PROSPERO (CRD42024565219).

Maternal Cannabis Use in Pregnancy and Autism Spectrum Disorder or Attention-Deficit/Hyperactivity Disorder in Offspring.

Up to 10% of women may use cannabis during pregnancy; this is of concern because constituents of cannabis cross the placental barrier and potentially influence neurodevelopment by acting on cannabinoid receptors in the developing fetal brain. In this context, a recent meta analysis of 13 observational studies found that gestational exposure to cannabis was associated with a small increase in the risk of autism spectrum disorder (ASD; relative risk [RR], 1.30) and with an even smaller increase in the risk of attention deficit/hyperactivity disorder (ADHD; RR, 1.

Type, content, and triggers for self-injurious thoughts and behaviors in autistic youth and their disclosure to caregivers.

Self-injurious thoughts and behaviors are high among autistic youth, yet research most often relies on caregiver reports and does not include youth perspectives. Relatedly, specific characteristics of self-injurious thoughts and behaviors (e.g.

Mapping the Landscape of Autism Research: A Scientometric Review (2011-2023).

This scientometric analysis maps the landscape of autism spectrum disorder (ASD) research between 2011 and 2023. By exploring patterns in publication growth, geographic distribution and institutional involvement, this study highlights evolving research themes, key contributors and collaborative networks. Our findings reveal a marked rise in ASD publications, particularly from 2020 onwards, with the United States, United Kingdom and China leading in contributions and collaborations.

Role of Odor Novelty on Olfactory Issues in Autism Spectrum Disorder.

Sensory processing abnormalities are a hallmark of autism spectrum disorder (ASD) and are included in its diagnostic criteria. Among these challenges, food neophobia has garnered attention due to its prevalence and potential impact on nutritional intake and health outcomes. This review describes the correlation between novel odor perception and feeding difficulties within the context of ASD.

Shared Genetic Links Between Sleep, Neurodevelopmental and Neuropsychiatric Conditions: A Genome-Wide and Pathway-Based Polygenic Score Analysis.

Genetic correlations have been reported between chronotype and both autism (AUT) and schizophrenia (SCZ), as well as between insomnia and attention-deficit/hyperactivity disorder (ADHD), bipolar disorder (BP), schizophrenia (SCZ) and major depression (MDD). Our study aimed to investigate these shared genetic variations using genome-wide and pathway-based polygenic score analyses. We computed polygenic scores using summary statistics from genome-wide association studies (GWAS) of ADHD (N = 225,534), AUT (N = 46,350), BP (N = 353,899), MDD (N = 500,199) and SCZ (N = 160,779).

Toward workforce integration: enhancements in adaptive behaviors and social communication skills among autistic young adults following vocational training course.

Background: Cognitively able autistic adults demonstrate low rates of employment due to social and vocational challenges. The current study aimed to examine changes in various areas among autistic young adults who participated in the 'Roim Rachok' ('Looking Ahead' in Hebrew) Training Course (RRTC). The course prepares young autistic adults for integration into military service as vocational soldiers.

Genetic Diagnostics and Phenotypic Profiling of a Girl With Autosomal Recessive Intellectual Developmental Disorder and Autism.

In this article, we present a case study of a five-year-old girl with autism and developmental delay, conducted at the Academic Center for Autism Research in Bratislava, Slovakia. The girl was diagnosed using Autism Diagnostic Observation Schedule-Second Edition (ADOS-2) and Autism Diagnostic Interview-Revised (ADI-R) instruments and met the criteria for autism spectrum disorder. Intellectual functioning was in the markedly below-average range, as indicated by the Snijders-Oomen Nonverbal Intelligence Test-Revised (SON-R) examination, and her level of adaptive functioning was significantly reduced.

Support for Children With Neurodevelopmental Disorders: A Qualitative Study Based on Interviews With School Nurse-Teachers.

The role of school nurse-teachers (SNTs) in supporting children with neurodevelopmental disorders (CNDs) in compulsory education schools has not been clarified. This study aimed to explore how these professionals manage challenges and provide tailored care for CNDs in such settings. We conducted a qualitative analysis of semi-structured interviews with experienced SNTs.

Case report: Receptive labeling training in autism: conventional vs. technology-based approaches? a single case study.

Background: Receptive language, the ability to comprehend and respond to spoken language, poses significant challenges for individuals with Autism Spectrum Disorder (ASD). To support communication in autistic children, interventions like Lovaas' simple-conditional method and Green's conditional-only method are commonly employed. Personalized approaches are essential due to the spectrum nature of autism.

New eye tracking metrics system: the value in early diagnosis of autism spectrum disorder.

Background: Eye tracking (ET) is emerging as a promising early and objective screening method for autism spectrum disorders (ASD), but it requires more reliable metrics with enhanced sensitivity and specificity for clinical use.

Methods: This study introduces a suite of novel ET metrics: Area of Interest (AOI) Switch Counts (ASC), Favorable AOI Shifts (FAS) along self-determined pathways, and AOI Vacancy Counts (AVC), applied to toddlers and preschoolers diagnosed with ASD. The correlation between these new ET metrics and Autism Diagnostic Observation Schedule, Second Edition (ADOS-2) scores via linear regression and sensitivity and specificity of the cut-off scores were assessed to predict diagnosis.

Transcription factor TCF4: structure, function, and associated diseases.

Our understanding of human genes - particularly their structure, functions, and regulatory mechanisms - is still limited. The biological role of approximately 20 % of human proteins has not been established yet, and the molecular functions of the known part of the proteome remain poorly understood. This hinders progress in basic and applied biological and medical sciences, especially in treating hereditary diseases, which are caused by mutations and polymorphic variants in individual genes.

MCBERT: A multi-modal framework for the diagnosis of autism spectrum disorder.

Within the domain of neurodevelopmental disorders, autism spectrum disorder (ASD) emerges as a distinctive neurological condition characterized by multifaceted challenges. The delayed identification of ASD poses a considerable hurdle in effectively managing its impact and mitigating its severity. Addressing these complexities requires a nuanced understanding of data modalities and the underlying patterns.

Counteracting the effects of maternal obesity on offspring neurodevelopment through Omega-3-based nutritional strategies.

It is becoming increasingly recognized that, in addition to psychological stress, unbalanced maternal nutritional habits can threaten fetal brain development. Maternal obesity is one of the most pressing public health problems facing the world today, as about 40% of pregnant women are obese or gain excessive weight worldwide. This condition can negatively impact offspring's brain development, increasing the risk for autism spectrum disorders, cognitive deficits, attention deficit hyperactivity disorder, as well as anxiety and depression.

Analysis of TSC1 and TSC2 genes and evaluation of phenotypic correlations with tuberous sclerosis.

Tuberous sclerosis complex (TSC) is a rare genetic disorder characterized by the formation of benign tumors in various organs, particularly in the central nervous system. We aimed to delineate the molecular profile of Turkish individuals diagnosed with TSC by analyzing the TSC1 and TSC2 genes using next-generation sequencing (NGS). Sophia Genetics' Sophia Inherited Disease Panel was used to perform NGS on 22 individuals diagnosed with TSC and to identify pathogenic variants in the TSC1 and TSC2 genes.

Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability.

E3 ubiquitin ligases have been linked to developmental diseases including autism, Angelman syndrome (UBE3A), and Johanson-Blizzard syndrome (JBS) (UBR1). Here, we report variants in the E3 ligase UBR5 in 29 individuals presenting with a neurodevelopmental syndrome that includes developmental delay, autism, intellectual disability, epilepsy, movement disorders, and/or genital anomalies. Their phenotype is distinct from JBS due to the absence of exocrine pancreatic insufficiency and the presence of autism, epilepsy, and, in some probands, a movement disorder.

A pathway-based genetic score for inflammation: An indicator of vulnerability to phthalate-induced adverse neurodevelopment outcomes.

Introduction: Phthalates, chemical additives used to enhance plastic products' flexibility, are easily released into the environment, and can harm the brain development through various mechanisms including inflammation. Genetic variation influencing an individual's susceptibility to inflammation may play a role in the effects of phthalate exposure on neurodevelopment however there is no summary measure developed for genetic susceptibility to inflammation.

Methods: We developed a genetic pathway function score for inflammation (gPFS), based on the transcriptional activity of the inflammatory response pathway in the brain and other tissues.

Autistic trait severity in early schizophrenia: Role in subjective quality of life and social functioning.

Background: Cognitive impairment is a cardinal feature in patients with schizophrenia and leads to poor social functioning. Recently, the treatment of schizophrenia has evolved to include the goal of improving quality of life (QoL). However, most of the factors influencing subjective QoL are unknown.

EEG-based brain age prediction in infants-toddlers: Implications for early detection of neurodevelopmental disorders.

The infant brain undergoes rapid developmental changes in the first three years of life. Understanding these changes through the prediction of chronological age using neuroimaging can provide insights into typical and atypical brain development. We utilized 938 resting-state EEG recordings from 457 typically developing infants, 2 to 38 months old, to develop age prediction models.