Epigenetic Insights into Autism Spectrum Disorder: DNA Methylation Levels of , and in Korean Autism Spectrum Disorder Sibling Pairs.

Objective: Previous research on autism spectrum disorder (ASD) in Koreans has primarily focused on genetic diversity because of its high heritability. However, the emerging recognition of transgenerational epigenetic changes has recently shifted research attention towards epigenetic perspectives.

Methods: This study investigated the DNA methylation patterns of the promoter regions of candidate genes such as , , and in blood samples from ASD probands and their unaffected siblings.

Short tandem repeat expansions in cortical layer-specific genes implicate in phenotypic severity and adaptability of autism spectrum disorder.

Aim: Short tandem repeats (STRs) are repetitive DNA sequences and highly mutable in various human disorders. While the involvement of STRs in various genetic disorders has been extensively studied, their role in autism spectrum disorder (ASD) remains largely unexplored. In this study, we aimed to investigate genetic association of STR expansions with ASD using whole genome sequencing (WGS) and identify risk loci associated with ASD phenotypes.

Examining the Use of Oral Aripiprazole in Patients With Autism Spectrum Disorder: A Study of Retrospective Chart Review at a University Medical Center.

Objectives: The purpose of this study was to examine the patterns of use of oral aripiprazole treatment in children and adolescents diagnosed with autism spectrum disorder (ASD) at a university medical center in Korea.

Methods: We retrospectively reviewed the medical records of 164 outpatient children and adolescents diagnosed with ASD by child and adolescent psychiatrists. Patient demographic characteristics, clinical features, age and dose of aripiprazole treatment, associated adverse events, and concomitant medications, etc.

Disparity in the dental care of children and adolescents with autism spectrum disorder in Korea: a national population-based cross-sectional study.

Individuals with autism spectrum disorders (ASD) have difficulty accessing dental care. We aim to verify whether individuals with ASD are properly managed by checking the frequency of dental visits, cost and severity of dental treatment compared with those without ASD. This cross-sectional study used the Korean Health Insurance Database to analyze the frequency, cost and severity of dental treatment in 209,780 people under the age of 19 with or without ASD in 2020.

Descriptive Analysis of Social Interaction and Communication Skills of Autistic Children According to Sibling Status and Characteristics.

Objective: Sibling relationships in early childhood can have a positive impact on children's social interaction and communication skills. Similarly, autistic children can benefit from interactions with their siblings, who can serve as readily available partners for social interaction. However, there is a lack of research on the effects of siblings based on specific characteristics of the sibling.

Promoting Self-Efficacy of Individuals With Autism in Practicing Social Skills in the Workplace Using Virtual Reality and Physiological Sensors: Mixed Methods Study.

Background: Individuals with autism often experience heightened anxiety in workplace environments because of challenges in communication and sensory overload. As these experiences can result in negative self-image, promoting their self-efficacy in the workplace is crucial. Virtual reality (VR) systems have emerged as promising tools for enhancing the self-efficacy of individuals with autism in navigating social scenarios, aiding in the identification of anxiety-inducing situations, and preparing for real-world interactions.

Diagnosis and Assessment of Autism Spectrum Disorder in South Korea.

Autism spectrum disorder (ASD) is diagnosed by the clinical decision of a trained professional based on the Diagnostic and Statistical Manual for Mental Disorders, Fifth Edition or International Classification of Diseases 11th Revision diagnostic criteria. To obtain information for diagnostic formulation, professionals should explore detailed developmental history, and can use structured or semi-structured assessment tools to observe interaction between the child and parents or strangers. Diagnostic assessment should include a profile of the strength and weaknesses of the individual and should be conducted using an optimal approach by a multidisciplinary team with appropriate techniques and experience.

Clinical characteristics of comorbid tic disorders in autism spectrum disorder: exploratory analysis.

Background: The frequency, clinical characteristics, and associated symptoms of comorbid tic disorders in individuals with autism spectrum disorder (ASD) remain unclear.

Methods: We included subsets of individuals from a larger genetic study who were diagnosed with ASD (n = 679; age: 4-18 years) and completed the Yale Global Tic Severity Scale (YGTSS) questionnaire. Based on the YGTSS score, the individuals were divided into two groups: ASD only (n = 554) and ASD with tics (n = 125).

Improving adaptive behaviors for autistic adults without intellectual disability through executive function training.

Executive functioning (EF) is a cognitive process used to perform various daily activities throughout one's lifespan. Autistic adults without intellectual disabilities (ID) also experience difficulties with EF, which is closely associated with adaptive behaviors. For this reason, it is important to improve adaptive behaviors through enhanced use of EF for autistic adults to transition into adulthood successfully.

Loss of Acquired Skills: Regression in Young Children With Autism Spectrum Disorders.

Objectives: Regression, while not a core symptom of autism spectrum disorder (ASD), has been suggested to be a distinct subtype by previous studies. Therefore, this study aimed to explore the prevalence and clinical differences between those with and without regression in children with ASD.

Methods: This study includes data from toddlers and young children aged 2-7 years acquired from other projects at Seoul National University Bundang Hospital.

Mood and Emotional Changes After PEERS Program in Parents of Young Adults With Autism Spectrum Disorder.

Objectives: This study examined the changes in anxiety and depressive symptoms in the parents of Korean adults with autism spectrum disorder (ASD) after participating in the Korean version of the Program for the Education and Enrichment of Relational Skills for Young Adults (PEERS-YA-K).

Methods: Forty-six parents were enrolled (mean age 54.7 years; 22 fathers and 24 mothers), of whom 27 participated in the PEERS- YA-K as social coaches.

Estimation of intrafamilial DNA contamination in family trio genome sequencing using deviation from Mendelian inheritance.

With the increasing number of sequencing projects involving families, quality control tools optimized for family genome sequencing are needed. However, accurately quantifying contamination in a DNA mixture is particularly difficult when genetically related family members are the sources. We developed TrioMix, a maximum likelihood estimation (MLE) framework based on Mendel's law of inheritance, to quantify DNA mixture between family members in genome sequencing data of parent-offspring trios.

End-to-End Model-Based Detection of Infants with Autism Spectrum Disorder Using a Pretrained Model.

In this paper, we propose an end-to-end (E2E) neural network model to detect autism spectrum disorder (ASD) from children's voices without explicitly extracting the deterministic features. In order to obtain the decisions for discriminating between the voices of children with ASD and those with typical development (TD), we combined two different feature-extraction models and a bidirectional long short-term memory (BLSTM)-based classifier to obtain the ASD/TD classification in the form of probability. We realized one of the feature extractors as the bottleneck feature from an autoencoder using the extended version of the Geneva minimalistic acoustic parameter set (eGeMAPS) input.

Non-coding de novo mutations in chromatin interactions are implicated in autism spectrum disorder.

Three-dimensional chromatin interactions regulate gene expressions. The significance of de novo mutations (DNMs) in chromatin interactions remains poorly understood for autism spectrum disorder (ASD). We generated 813 whole-genome sequences from 242 Korean simplex families to detect DNMs, and identified target genes which were putatively affected by non-coding DNMs in chromatin interactions.