Novel Phenotypes and Genotype-Phenotype Correlations in a Large Clinical Cohort of Patients With Kleefstra Syndrome.

Kleefstra syndrome (KLEFS) is a genetic neurodevelopmental disorder caused by haploinsufficiency of EHMT1. The full spectrum of clinical features and genotype-phenotype correlations is currently not fully understood. We performed a retrospective chart review of patients with KLEFS evaluated at the Boston Children's Hospital Kleefstra Clinic.

From motion to emotion: exploring challenging behaviors in autism spectrum disorder through analysis of wearable physiology and movement.

Objective: This study aims to evaluate the efficacy of wearable physiology and movement sensors in identifying a spectrum of challenging behaviors, including self-injurious behavior (SIB), in children and teenagers with autism spectrum disorder (ASD) in real-world settings.

Approach: We utilized a long-short-term memory (LSTM) network with features derived using the wavelet scatter transform to analyze physiological biosignals, including electrodermal activity and skin temperature, alongside three-dimensional movement data captured via accelerometers. The study was conducted in naturalistic environments, focusing on participants' daily activities.

Unusual Causes of Death Due to Constipation.

Constipation is found in individuals with intellectual disabilities, autism, and cerebral palsy. Although generally a benign condition, it may lead to life-threatening intestinal obstruction, with or without volvulus, or to stercoral ulceration with enteritis and/or perforation. Two unusual cases of lethal chronic constipation are reported to demonstrate other very rare fatal mechanisms that may occur.

Preliminary Examination of the Stability of Sequential Associations Between the Talk of Educators and Autistic Preschoolers Using Generalizability Theory.

Purpose: Estimating the sequential associations between educators' and children's talk during language learning interactions requires careful consideration of factors that may impact measurement stability and resultant inferences. This research note will describe a preliminary study that used generalizability theory to understand the contribution of two measurement conditions- and -on estimates of sequential associations between educator talk and autistic preschooler talk in inclusive preschool classrooms.

Method: We used an existing data set of four 15-min video-recorded occasions of educator-child interactions for 11 autistic preschoolers during free-play in their inclusive classroom.

Dysregulation of neural tube vascular development as an aetiological factor in autism spectrum disorder: Insights from valproic acid exposure.

Autism spectrum disorder (ASD) is a prevalent neurodevelopmental condition affecting a substantial number of children globally, characterized by diverse aetiologies, including genetic and environmental factors. Emerging research suggests that neurovascular dysregulation during development could significantly contribute to autism. This review synthesizes the potential role of vascular abnormalities in the pathogenesis of ASD and explores insights from studies on valproic acid (VPA) exposure during neural tube development.

Effects of an acceptance and commitment-based parenting program for parents of children with autism spectrum disorder on parenting stress and other parent and children health outcomes: A pilot randomized controlled trial.

This study aimed to examine whether an acceptance and commitment therapy (ACT)-based parenting program, incorporating topics of emotional and stress management, parenting skills training, autism-related education, and self-care learning, could be successfully implemented, well-received, and beneficial for parents of children with autism. We randomly assigned 40 parents to either participate in the eight-session ACT-based parenting program or receive usual care only. The program was found to be feasible, with many parents willing to participate and complete the sessions.

Predictive model using autism diagnostic observation schedule, second edition for differential diagnosis between schizophrenia and autism spectrum disorder.

Background: Although schizophrenia and autism spectrum disorder (ASD) are currently conceptualized as distinct disorders, the similarity in their symptoms often makes differential diagnosis difficult. This study aimed to identify similarities and differences in the symptoms of schizophrenia and ASD to establish a more useful and objective differential diagnostic method and to identify ASD traits in participants with schizophrenia.

Methods: A total of 40 participants with schizophrenia (13 females, mean age: 34 ± 11 years) and 50 participants with ASD (15 females, mean age: 34 ± 8 years) were evaluated using the Autism Diagnostic Observation Schedule, Second Edition (ADOS-2) and other clinical measures.

Early Positive Report of Viloxazine for a Child with Hyperkinetic Autism.

Herein, authors report on an ASD child with comorbid ADHD, ID, metabolic syndrome and nocturnal enuresis that failed multiple trials of psychotropic agents for behavioural dyscontrol. Viloxazine adjuventia brought about remarkable improvement spanning different domains. Purported pharmacodynamic mechanisms are briefly discussed.

Novel automated method to assess group dynamics reveals deficits in behavioral contagion in rats with social deficits.

Behavioral copying is a key process in group actions, but it is challenging for individuals with autism spectrum disorder (ASD). We investigated behavioral contagion, or instinctual replication of behaviors, in Krushinky-Molodkina (KM) rats ( = 16), a new potential rodent model for ASD, compared to control Wistar rats ( = 15). A randomly chosen healthy Wistar male ("demonstrator rat") was introduced to the homecage of experimental rats ("observers") 10-14 days before the experiments to become a member of the group.

Telehealth in arts therapies for neurodevelopmental and neurological disorders: a scoping review.

Background: Arts therapies, encompassing art therapy, music therapy, drama therapy, and dance movement therapy with the broader practice of expressive arts therapies, have demonstrated positive outcomes in the treatment of neurodevelopmental and neurological disorders (NNDs). Integrating arts therapies into telehealth has become increasingly important to improve accessibility for people with mobility impairments or those living in remote areas. This study aims to map the existing body of literature to provide an in-depth overview of telehealth in arts therapies for individuals with NNDs.

Industry perspectives on the implementation of social support for young adults with disability in community gyms: a qualitative study.

Purpose: Social support is a known facilitator of exercise for people with disability. A qualitative approach was used to understand current social support practices in community gyms for young adults with disability.

Methods: Embedded within a larger project "Getting Young adult Moving - Supporting Participation and Access to Recreation Centres" (GYM-SPARC), semi-structured interviews were completed with 25 gym staff, representing 29 community gym facilities across Victoria, Australia.

Lipidomic profiling of mouse brain and human neuron cultures reveals a role for in mTOR-dependent neuronal migration.

Mutations in lipid regulator genes are a frequent cause of autism spectrum disorder, including those regulating phosphatidylinositol (PI) and phosphoinositide 3-kinase signaling. encodes a key acyltransferase in PI synthesis and is mutated in an autism-related condition with neurodevelopmental delay and epilepsy. Using liquid chromatography-tandem mass spectrometry, we analyzed the PI-associated glycerolipidome in mice and humans during neurodevelopment and found dynamic regulation at times corresponding to neural apoptosis in the brains of knockout mice.

Apps and Digital Resources for Child Neurodevelopment, Mental Health, and Well-Being: Review, Evaluation, and Reflection on Current Resources.

Background: An increase in the prevalence of neurodevelopmental conditions worldwide, alongside resource constraints within clinical services, has led to increased interest in health information technologies, such as apps and digital resources. Digital tools are often viewed as a solution to bridge this divide and to increase supports for families. There is, however, a paucity of research that has evaluated digital health tools, their potential benefits for child neurodevelopment and associated concerns (eg, mental health, well-being), and their benefit for families.

Health checks for autistic adults: study protocol for a cluster randomised controlled trial.

Background: Autistic people commonly have physical and mental health conditions. They also frequently experience barriers to accessing healthcare, contributing to problems identifying and treating health conditions. These factors may lead to increased and earlier morbidity and lower average life expectancy for autistic people.

Gut microbial 'TNFα-sphingolipids-steroid hormones' axis in children with autism spectrum disorder: an insight from meta-omics analysis.

Background: Autism spectrum disorder (ASD) is a persistent neurodevelopmental disorder affecting brains of children. Mounting evidences support the associations between gut microbial dysbiosis and ASD, whereas detailed mechanisms are still obscure.

Methods: Here we probed the potential roles of gut microbiome in ASD using fecal metagenomics and metabolomics.