IFN-γ signaling links ventriculomegaly to choroid plexus and ependyma dysfunction following maternal immune activation.

Maternal immune activation (MIA) is a principal environmental risk factor contributing to autism spectrum disorder (ASD) and can be causally linked to ASD symptoms. In our study, we found that MIA triggered by poly (I: C) injection caused ventriculomegaly in offspring due to the dysfunction of the choroid plexus (Chp) and ependyma. We subsequently identified a sustained enhancement of interferon-γ (IFN-γ) signaling in the brain and serum of MIA offspring.

Shank3 modulates Rpl3 expression and protein synthesis via mGlu5: implications for Phelan McDermid syndrome.

Mutations or deletions in the SHANK3 gene have been identified in up to 1% of autism spectrum disorder cases and are considered the primary cause of neuropsychiatric symptoms in Phelan McDermid syndrome (PMS). While synaptic dysfunctions have been extensively documented in the absence of Shank3, other mechanisms through which Shank3 may regulate neuronal functions remain unclear. In this study, we report that the ribosomal protein Rpl3 and overall protein synthesis are downregulated in the cortex and striatum of Shank3 knockout (KO) mice and in neurons differentiated from human-induced pluripotent stem cells (hiPSCs) derived from a PMS patient.

Usefulness in rehabilitation of the paper Multiple Errands Test to assess executive functions in patients with schizophrenia, bipolar or autism disorders. Results from the REHABase cohort study.

Objective: Neuropsychological tests measuring executive functions are useful for identifying specific cognitive disorders, but they have limits for characterizing executive dysfunction in everyday activities. This study aims to investigate the socio-demographic, clinical, and psychosocial features associated with executive functions in patients with schizophrenia, bipolar, and autism spectrum disorders using a Paper Multiple Errands Test.

Patients Or Materials And Methods: A total of 1071 adults with schizophrenia spectrum disorder, 329 with bipolar spectrum disorder, and 254 with autism spectrum disorder were recruited from the French National Centers of Reference for Psychiatric Rehabilitation (REHABase) cohort between January 2016 and October 2022.

Long-term risk of psychiatric disorders in childhood and adolescence following neonatal invasive group B Streptococcus disease-a Danish cohort study.

Objectives: The long-term risk of child and adolescent psychiatric disorders (PDs) after neonatal invasive group B Streptococcus disease (iGBS) and the modifying factors are poorly understood.

Methods: A population-based matched cohort study, including 1,548 infants with iGBS diagnosed during the first 3 months of life from 1997 through 2020 and follow-up until 2022, based on data from Danish national health and administrative registers. A general population comparison cohort of infants without iGBS was randomly sampled and matched 1:10 by sex, the child's birth year and month, and gestational age (n= 15,345).

Enteric nervous system dysfunction as a driver of central nervous system disorders: The Forgotten brain in neurological disease.

The Enteric Nervous System (ENS), often called the "second brain," is a complex network of neurons and glial cells within the gastrointestinal (GI) tract. It functions autonomously while maintaining close communication with the central nervous system (CNS) via the gut-brain axis (GBA). ENS dysfunction plays a crucial role in neurodegenerative and neurodevelopmental disorders, including Parkinson's disease, Alzheimer's disease, and autism spectrum disorder.

Self-training EEG discrimination model with weakly supervised sample construction: An age-based perspective on ASD evaluation.

Deep learning for Electroencephalography (EEG) has become dominant in the tasks of discrimination and evaluation of brain disorders. However, despite its significant successes, this approach has long been facing challenges due to the limited availability of labeled samples and the individuality of subjects, particularly in complex scenarios such as Autism Spectrum Disorders (ASD). To facilitate the efficient optimization of EEG discrimination models in the face of these limitations, this study has developed a framework called STEM (Self-Training EEG Model).

The robustness of speech-like vocalization in typically developing infants and infants with autism.

Background: Human infants produce speech-like vocalizations ("volubility") at very high rates, 4-5 per minute during waking hours across the first year, far exceeding rates of our ape relatives.

Aims: We document volubility in 127 typically developing (TD) infants, 44 with autism (ASD), and 21 with non-autism developmental delay (DD) through longitudinal recordings and human coding.

Methods And Procedures: Families of 302 infants (110 not yet diagnosed or with other diagnoses) supplied 8.

Genetic Epilepsies With Onset in Infancy and Toddlerhood: A Prospective Single-Center Study in India.

Background: The burden of genetic causes of epilepsy is higher in infants and toddlers. Early diagnosis helps in precision therapy and prenatal diagnosis. The spectrum of genetic causes can vary depending on the location and prevalence of consanguinity practices.

ASiDentify (ASiD): A Machine Learning Model to Predict New Autism Spectrum Disorder Risk Genes.

Autism spectrum disorder (ASD) is a neurodevelopmental disorder that affects nearly 3% of children and has a strong genetic component. While hundreds of ASD risk genes have been identified through sequencing studies, the genetic heterogeneity of ASD makes identifying additional risk genes using these methods challenging. To predict candidate ASD risk genes, we developed a simple machine learning model, ASiDentify (ASiD), using human genomic, RNA- and protein-based features.

Peer Acceptance of Autistic College Students.

As autistic young adults increasingly enter into higher education, many are faced with difficult social adjustment (e.g., making friends, acquiring social support) in college (McLeod et al.

Sleep Disorders and Constipation in Autistic Children and Youth: Who Receives Standard of Care Drug Treatments?

Purpose: The purpose of this retrospective cohort analysis was to investigate sex differences in receipt of standard of care sleep and constipation drug treatments among autistic children and youth with sleep disorder and constipation, respectively.

Methods: We used the data from the OneFlorida + Data Trust to analyze healthcare claims for 19,877 autistic patients with sleep disorder and 32,355 patients with constipation, ages 1 to 22. We used logistic regression to examine sex differences in receiving sleep and constipation treatments, and a multivariate logistic regression model to further assess sex differences in ever receiving sleep and constipation treatments, adjusting for age, race, ethnicity, and urbanicity.

Gaming in the intervention and support process: A realist evaluation of a gaming-based programme.

Using games as part of the intervention and support process (sometimes referred to as 'gaming therapy') is an increasingly popular method of supporting autistic youth to develop social competencies and other skills because they are believed to be inherently motivating and fun for youth. Some emerging research has indicated that intervention programmes using games can be beneficial for autistic youth, but little is currently known about why, how and for whom they work. This study conducted a realist evaluation of a programme using the video game "Minecraft" for autistic youth, comprising interviews and observations with autistic youth ( = 4), facilitators ( = 2) and caregivers ( = 6).

Understanding decision-making in autistic children and adolescents: Insights from deliberative processes and behavioral economic paradigms.

Prior research has shown conflicting findings on decision-making differences between autistic and non-autistic individuals. To address this issue, we applied the Ultimatum and Dictator Games to examine explicit measures (probability of endorsing monetary offers) and implicit measures (response times) associated with decision-making behaviors. By analyzing response times, we aimed to determine whether decisions were intuitive (rapid) or deliberative (slower) reasoning processes.

Experiences of interoception and anxiety in autistic adolescents: A reflexive thematic analysis.

Most autistic adolescents experience anxiety. Interoception, defined as one's ability to detect and interpret bodily signals, might contribute to this. The aim of this exploratory, qualitative study was to gain a better understanding of interoceptive experiences in autistic adolescents and how this relates to anxiety.

The use of multisensory environments in children and adults with autism spectrum disorder: A systematic reviewz.

Multisensory environment is a setting designed with activities and tools that offered sensory stimulation. Despite their widespread use, no evidence-based guidelines are currently available. The aim of this systematic review was to assess the impact of multisensory environment interventions in autism and to provide guidelines.

Teachers' perceptions of children with autism spectrum disorder: a comparison between special education and preschool teachers.

This study aimed to determine the metaphors preschool and special education teachers developed about autism. In this study, the researchers used the phenomenology design, one of the qualitative research designs. While determining the study group of the research, the convenience sampling method, one of the purposeful sampling methods, was used.

Analysis of neurexin-neuroligin complexes supports an isoform-specific role for beta-neurexin-1 dysfunction in a mouse model of autism.

Neurexins are presynaptic plasma membrane proteins that regulate key aspects of synapse physiology through the formation of transcellular complexes with postsynaptic ligands, including neuroligins (Nlgns). Each neurexin gene (NRXN1-3) generates two main alternative-spliced transcripts that generate alpha and beta-Nrxn isoforms differing in their extracellular domains. Mutations in NRXN1 are associated with autism and other neurodevelopmental disorders.

Disrupted visual attention relates to cognitive development in infants with Neurofibromatosis Type 1.

Background: Neurofibromatosis Type 1 is a genetic condition diagnosed in infancy that substantially increases the likelihood of a child experiencing cognitive and developmental difficulties, including Autism Spectrum Disorder (ASD) and Attention Deficit Hyperactivity Disorder (ADHD). Children with NF1 show clear differences in attention, but whether these differences emerge in early development and how they relate to broader difficulties with cognitive and learning skills is unclear. To address this question requires longitudinal prospective studies from infancy, where the relation between domains of visual attention (including exogenous and endogenous shifting) and cognitive development can be mapped over time.

Predictors of successful Picture Exchange Communication System training in children with communication impairments: insights from a real-world intervention in a resource-limited setting.

Background: Children with communication impairments-such as autism spectrum disorder or global developmental delay-face significant challenges affecting their emotional and behavioural development. The Picture Exchange Communication System (PECS) is an augmentative communication tool designed to enhance their skills. However, its effectiveness can vary in resource-limited settings.

Clinical effectiveness of an online psychoeducational and psychotherapeutic programme for caregivers of children newly diagnosed as autistic: a parallel, assessor-masked, randomised controlled trial in the UK (REACH-ASD).

Background: Caregivers of autistic children experience particularly poor levels of mental health and increased caregiving complexities. Proactive post-diagnostic family support is recommended but is inconsistently implemented, largely not evidence based, and does not directly address caregiver mental health. This study aimed to test the clinical effectiveness of the Empower-Autism programme plus treatment as usual versus the usual local post-diagnostic psychoeducation offer plus treatment as usual on caregiver mental health at the 52-week follow-up.

Age-related trajectories of health and cognition in mothers of children with developmental disabilities: Longitudinal findings from two independent studies.

Developmental disabilities are a heterogenous group of disorders characterized by impairments in physical functioning, learning, language, behavior, and self-care (Zablotsky et al., 2019). Parenting a child with a developmental disability can be a profound source of stress, particularly for mothers.

Altered Neural Activity in the Mesoaccumbens Pathway Underlies Impaired Social Reward Processing in Shank3-Deficient Rats.

Social behaviors are crucial for human connection and belonging, often impacted by conditions like Autism Spectrum Disorder (ASD). The mesoaccumbens pathway (ventral tegmental area (VTA) to the nucleus accumbense (NAc)) plays a pivotal role in social behavior and is implicated in ASD. However, the impact of ASD-related mutations on social reward processing remains insufficiently explored.

Child Well-Being and Family Quality of Life During the COVID-19 Pandemic.

Background: Little is known about changes in child well-being and family quality of life (QoL) among children seeking emergency department care because of mental health concerns over the course of the pandemic.

Methods: Prospective cohort study of children < 18 who visited two paediatric EDs in Alberta, Canada, for an acute mental health concern. Early and late pandemic time periods were defined as 15 March 2020-14 March 2021 and 1 July 2021-30 June 2022, respectively.

Van der Woude syndrome and amniotic band sequence: A clue to a common genetic etiology? A case report.

Rare heterozygous variants in IRF6 (interferon regulatory factor-6) gene cause van der Woude syndrome 1 (VWS1) or Popliteal Pterygium syndrome, two forms of syndromic cleft lip/palate (CLP) that present with a variety of congenital malformations due to impairment ectodermal homeostasis. These malformations include, in addition to CLP, lip pits, pterygia, and intraoral and eyelid fibrous bands. Amniotic band sequence (ABS) is a rare condition of unknown genetic etiology that involves a range of congenital anomalies caused by the entanglement of fibrous bands, which disrupt fetal body parts.

Semi-Automated Multi-Label Classification of Autistic Mannerisms by Machine Learning on Post Hoc Skeletal Tracking.

Mannerisms describe repetitive or unconventional body movements like arm flapping. These movements are early markers of restricted and repetitive behaviors (RRBs) in autism spectrum disorder (ASD). However, assessing mannerisms reliably is challenging.