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.

Classifying autism in a clinical population based on motion synchrony: a proof-of-concept study using real-life diagnostic interviews.

Predictive modeling strategies are increasingly studied as a means to overcome clinical bottlenecks in the diagnostic classification of autism spectrum disorder. However, while some findings are promising in the light of diagnostic marker research, many of these approaches lack the scalability for adequate and effective translation to everyday clinical practice. In this study, our aim was to explore the use of objective computer vision video analysis of real-world autism diagnostic interviews in a clinical sample of children and young individuals in the transition to adulthood to predict diagnosis.

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.

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.

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.

Patterns of Restricted and Repetitive Behaviors in Toddlers and Young Children with Autism Spectrum Disorder.

Objectives: Restricted and repetitive behaviors (RRBs) are a core symptom in the diagnosis of autism spectrum disorder (ASD). The complexity of behavioral patterns has called for the creation of phenotypically homogeneous subgroups among individuals with ASD. The purpose of this study was 1) to investigate the different types of RRBs and 2) to explore whether subgroups created by RRBs would show unique levels of functioning in toddlers and young children with ASD.

A Randomized Controlled Trial of the Korean Version of the Program for the Education and Enrichment of Relational Skills for Young Adults (PEERS®-YA-K) With Autism Spectrum Disorder: A Pilot Study.

Evidence-based social skills interventions for young adults are limited, despite social difficulties in autism spectrum disorder (ASD) persisting after transition to adulthood. The Program for the Education and Enrichment of Relational Skills for Young Adults (PEERS®-YA) is an evidence-based intervention found to be effective in improving relational skills in young adults with ASD. To translate the original American version of the PEERS®-YA treatment manual into Korean, intensive interviews were performed.

Validation of Social Responsiveness Scale for Korean Preschool Children With Autism.

Objective: This cross-cultural study aims to examine the psychometric properties of the Social Responsiveness Scale (SRS) and to determine the best-estimate-cut-off scores for the diagnosis of autism spectrum disorder (ASD) in Korean preschool children.

Methods: A total of 563 children was recruited from multiple sources, including Seoul National University Bundang Hospital. Participants were assessed by a multidisciplinary research team using multiple diagnostic tools based on DSM-5 diagnostic criteria.

Short caregiver interview and play observation for early screening of autism spectrum disorder: Behavior development screening for toddlers (BeDevel).

This study validates behavior development screening for toddlers (BeDevel), which utilizes a combination of short caregiver interviews (BeDevel-I) and semistructured play observations (BeDevel-P). The data of 431 toddlers (male 66.2%; mean age (SD) = 29.

Validating the Autism Diagnostic Interview-Revised in the Korean Population.

Objective: This study aimed to examine the validity of the Korean version of the Autism Diagnostic Interview-Revised (K-ADI-R) and determine its efficacy in identifying individuals with autism spectrum disorder (ASD).

Methods: Data were pooled from several past and ongoing studies as well as clinical records acquired at Seoul National University Bundang Hospital from 2008 to 2017. The K-ADI-R were administered and scored by trained research reliable examiners.

State and Trait Anxiety of Adolescents with Autism Spectrum Disorders.

Objective: This study examined how state and trait anxiety of adolescents with autism spectrum disorders (ASD) are associated with their demographic characteristics, repetitive and restricted behaviors (RRBs), and internalizing and externalizing problem behaviors.

Methods: A total of 96 participants with ASD (mean age=14.30 years; 91 males) completed a battery of tests including the State/Trait Anxiety Inventory (STAI), the Autism Diagnostic Interview-Revised, the Social Responsiveness Scale (SRS), and a cognitive test measuring intelligence quotient (IQ).

Deep-Learning-Based Detection of Infants with Autism Spectrum Disorder Using Auto-Encoder Feature Representation.

Autism spectrum disorder (ASD) is a developmental disorder with a life-span disability. While diagnostic instruments have been developed and qualified based on the accuracy of the discrimination of children with ASD from typical development (TD) children, the stability of such procedures can be disrupted by limitations pertaining to time expenses and the subjectivity of clinicians. Consequently, automated diagnostic methods have been developed for acquiring objective measures of autism, and in various fields of research, vocal characteristics have not only been reported as distinctive characteristics by clinicians, but have also shown promising performance in several studies utilizing deep learning models based on the automated discrimination of children with ASD from children with TD.

How Do Children with Autism Spectrum Disorder Encode and Reproduce Visuospatial Stimuli?: Investigation into Visuospatial Processing Abilities and Styles.

Objective: The purpose of this study was to examine the visuospatial processing abilities of children with autism spectrum disorder (ASD) using the Rey Osterrieth Complex Figure (ROCF).

Methods: One-hundred thirty-four children with ASD [mean age (MA)=113.56 months], 150 siblings of children with ASD (MA= 111.

The Use of Artificial Intelligence in Screening and Diagnosis of Autism Spectrum Disorder: A Literature Review.

Objectives: The detection of autism spectrum disorder (ASD) is based on behavioral observations. To build a more objective datadriven method for screening and diagnosing ASD, many studies have attempted to incorporate artificial intelligence (AI) technologies. Therefore, the purpose of this literature review is to summarize the studies that used AI in the assessment process and examine whether other behavioral data could potentially be used to distinguish ASD characteristics.

The Feasibility and Validity of Autism Spectrum Disorder Screening Instrument: Behavior Development Screening for Toddlers (BeDevel)-A Pilot Study.

Although early screening is critical for individuals with autism spectrum disorder (ASD) in order to receive early intervention and improve function later in life, screening is often delayed. Limitations of existing screening instruments, and the need for a culturally appropriate early screening tool in Korean children, led us to develop Behavior Development Screening for Toddlers (BeDevel). The BeDevel assessment consists of two parts: BeDevel-Interview, a structured interview measure for parents/primary caregivers; and BeDevel-Play, a play-based semi-structured observational measure in children.

Age as a Moderator of Social Skills Intervention Response Among Korean Adolescents with Autism Spectrum Disorder.

Few studies have investigated the effect of age on treatment effectiveness of evidence-based social skills training in autism spectrum disorder (ASD) adolescents. This study evaluated the effectiveness of Program for the Education and Enrichment of Relational Skills (PEERS) in different ages of ASD adolescents. A total of 110 ASD adolescents aged 11-19 years were divided into early, middle, and late adolescence groups, and the changes in outcome measures following intervention were compared among the three groups.

Re-adjusting the cut-off score of the Korean version of the Childhood Autism Rating Scale for high-functioning individuals with autism spectrum disorder.

Aim: The current cut-off score of the Korean version of the Childhood Autism Rating Scale (K-CARS) does not seem to be sensitive enough to precisely diagnose high-functioning autism. The aim of this study was to identify the optimal cut-off score of K-CARS for diagnosing high-functioning individuals with autism spectrum disorders (ASD).

Methods: A total of 329 participants were assessed by the Korean versions of the Autism Diagnostic Interview - Revised (K-ADI-R), Autism Diagnostic Observation Schedule (K-ADOS), and K-CARS.

Social skills training for children with autism spectrum disorder using a robotic behavioral intervention system.

We designed a robot system that assisted in behavioral intervention programs of children with autism spectrum disorder (ASD). The eight-session intervention program was based on the discrete trial teaching protocol and focused on two basic social skills: eye contact and facial emotion recognition. The robotic interactions occurred in four modules: training element query, recognition of human activity, coping-mode selection, and follow-up action.

A randomized controlled trial of the Korean version of the PEERS(®) parent-assisted social skills training program for teens with ASD.

Impaired social functioning is a hallmark feature of autism spectrum disorder (ASD), often requiring treatment throughout the life span. PEERS(®) (Program for the Education and Enrichment of Relational Skills) is a parent-assisted social skills training for teens with ASD. Although PEERS(®) has an established evidence base in improving the social skills of adolescents and young adults with ASD in North America, the efficacy of this treatment has yet to be established in cross-cultural validation trials.