• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.33 no.2
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• pp.35-40
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• 2022

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. Methods: A total of 313 children with ASD, aged 12-42 months were included in the analysis. The Autism Diagnostic Interview-Revised was used to obtain information on the different types of RRBs by grouping 15 items into six categories. The Vineland Adaptive Behaviors Scale, a parent-reported questionnaire, was used to measure adaptive functioning. A portion of the children were analyzed separately for verbal-related RRBs based on their expressive language level. Two-step cluster analysis using RRB groups as features was used to create subgroups. Analysis of covariance while covarying for age and language was performed to explore the clinical characteristics of each cluster group. Results: Sensory-related RRBs were the most prevalent, followed by circumscribed interests, interest in objects, resistance to change, and repetitive body movements. A subset of the children was analyzed separately to explore verbal-related RRBs. Four cluster groups were created based on reported RRBs, with multiple RRBs demonstrating significant delays in adaptive functioning. Conclusion: Heterogeneity of RRBs emerges at a young age. The different patterns of RRBs can be used as valuable information to determine developmental trajectories with better implications for treatment approaches.

• Journal of Music and Human Behavior
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• v.20 no.2
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• pp.61-88
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• 2023

This case study examined whether a cooperative musical instrument playing could enhance interactions between children with autism spectrum disorder (ASD) and their neurotypical (NT) siblings. It involved three children with ASD aged 7-12 years and three NT siblings aged 6-11 years. Each group, comprising a child with ASD and their NT sibling, participated in a 40-minute sessions twice weekly for eight sessions over four weeks. The intervention included three stages: simultaneous action, complementary action, and achieving a joint goal. Evaluation criteria included the initiation and response behaviors of each child, and sequential interactive behaviors and cooperative behaviors between pairs were measured. Additionally, before and after the intervention, parents and NT sibling assessed their perceived sibling relationships. Results showed increased interactive and cooperative behaviors. Post-intervention, both parents and NT siblings rated the sibling relationship highly, despite little change in sibling conflict and competition consciousness. These findings indicate that interactive instrument playing can enhance perceptions of siblings as cooperative play partners and aid in teaching them how to collaborate during interactions.

• Journal of Music and Human Behavior
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• v.21 no.1
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• pp.69-87
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• 2024

This study investigated whether joint attention response behaviors in children with autism spectrum disorder (ASD) change in response to musical cues and reinforcing stimulus, and compared them with neurotypically developing (NT) children. The participants included 13 children with ASD and 14 NT children aged between 3 to 5 years. The study established six task conditions, involving cues (verbal vs. musical) for responding to joint attention (RJA) behaviors and reinforcing stimulus (verbal vs. sound vs. musical) for social referencing behaviors. These tasks were presented 12 times with two repetitions each. The results of the study showed that providing musical cues during the RJA phase increased levels of RJA in children with ASD, consistent with prior studies. Subsequently, musical reinforcing stimuli increased the frequency of social referencing behaviors in these children. This indicates that musical stimuli can extend beyond mere sensory cues, helping individuals to understand and respond to social and emotional cues from others. Moreover, these musical stimuli could serve as effective social reinforcement factors for this population.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.26 no.1
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• pp.22-29
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• 2015

Objectives : Repetitive and stereotyped behaviors are core symptoms in children with autism spectrum disorders (ASD). The purpose of our study was to investigate the frequency of motor stereotypes in ASD children and their clinical features. Methods : Among 171 ASD children (age range, 3-15), the ASD group with motor stereotypes was defined according to two items in the Korean version of Autism Diagnostic Interview-Revised (K-ADI-R). We compared the clinical features, behavior problems and severity of other domains in the K-ADI-R and executive functions between the ASD group with motor stereotypes and the ASD group without motor stereotypes. Results : Ninety (52.6%) of 171 ASD children had motor stereotypes. The ASD group with motor stereotypes had a lower intelligence quotient score (62.23 vs. 84.94, p<.001) compared to the ASD group without motor stereotypes. The ASD group with motor stereotypes had more impairments in the social interaction domain [adjusted odds ratio (AOR) 1.11, p=.001] and communication domain (AOR 1.15, p=.008). Thought problems and lethargy were more frequent in the ASD group with motor stereotypes than the ASD group without motor stereotypes (AOR 2.059, p=.034 ; adjusted OR 1.045, p=.046). However, no significant differences in executive function were observed between the ASD group with motor stereotypes and the ASD group without motor stereotypes. Conclusion : The ASD group with motor stereotypes showed more impairment in social interaction and communication domains, which are core symptoms of autism. Motor stereotypes may indicate greater severity of ASD.

• Clinical and Experimental Pediatrics
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• v.62 no.4
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• pp.126-130
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• 2019

Purpose: In this meta-analysis, relevant case-control and cohort studies were pooled to evaluate the association between preeclampsia and the risk of autism spectrum disorders (ASDs) in children. Methods: A search for relevant studies in major databases, including Web of Science, PubMed, and Scopus, was performed up to May 2018. The odds ratios (ORs) or rate ratios (RRs) with 95% confidence intervals (CIs) were extracted from eligible studies to determine the association among studies. Results: The pooled estimates of ORs and RRs indicated a significant association between preeclampsia and ASD [(OR, 1.36; 95% CI, 1.12-1.60) and (RR, 1.30; 95% CI, 1.20-1.41)]. Conclusions: Despite existing controversy, our findings indicated that preeclampsia was associated with an increased risk of ASD among children.

• Science of Emotion and Sensibility
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• v.21 no.4
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• pp.77-90
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• 2018

Behavioral studies of emotion recognition in autism spectrum disorders (ASD) have yielded mixed results. Most of the studies focused on emotion recognition abilities with regard to ASD using stimuli with unisensory modality, making it difficult to determine difficulties in real life emotion perception in ASD. Herein, we review the recent behavioral and cognitive neuroscience studies on emotion recognition functions in ASD, including both unisensory and multisensory emotional information, to elucidate the possible difficulties in emotion recognition in ASD. In our study, we discovered that people with ASD have problems in the process of integrating emotional information during emotion recognition tasks. The following four points are discussed: (1) The restrictions of previous studies, (2) deficits in emotion recognition in ASD especially in recognizing multisensory information, (3) possible compensation mechanisms for emotion recognition in ASD, and (4) the possible roles of attention and language functions in emotion recognition in ASD. The compensatory mechanisms proposed herein for ASD with regard to emotion recognition abilities could contribute to a therapeutic approach for improving emotion recognition functions in ASD.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.26 no.1
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• pp.30-37
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• 2015

Objectives: The purpose of this study was to verify the validity and clinical cutoff score of the Child Behavior Checklist for ages 1.5-5 (CBCL 1.5-5) for diagnosis of autism spectrum disorder (ASD). Methods: 44 ASD infants and 100 normal infants participated. T-test, discriminant analysis, receiver operating characteristic (ROC) curve analysis, and odds ratio analysis were performed on the data. Results: Discriminant validity was confirmed by mean differences and discriminant analysis on the subscales of Withdrawn, Attention problems, Internalizing problems, Externalizing problems, Total problems, and all Diagnostic and Statistical Manual of Mental Disorders (DSM)-oriented scales between the two groups. ROC curve analysis showed that Withdrawn, Attention problems, Internalizing problems, Externalizing problems, Total problems, DSM pervasive developmental problems, DSM attention deficit/hyperactivity problems, and DSM oppositional defiant problems significantly predicted ASD infants compared to normal infants. In addition, the clinical cutoff score criteria adopted in the Korean CBCL 1.5-5 for subscales of Withdrawn, Attention problems, Internalizing problems, Externalizing problems, Total problems, DSM pervasive developmental problems, DSM attention deficit/hyperactivity problems, and DSM oppositional defiant problems were shown to be valid. Conclusion: The subscales of Withdrawn, Attention problems, Internalizing problems, Externalizing problems, Total problems, DSM pervasive developmental problems, DSM attention deficit/hyperactivity problems, and DSM oppositional defiant problems significantly discriminated for the diagnosis of ASD.

• BMB Reports
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• v.55 no.5
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• pp.238-243
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• 2022

Autism or autism spectrum disorder (ASD) is a behavioral syndrome characterized by persistent deficits in social interaction, and repetitive patterns of behavior, interests, or activities. The gene encoding Methyl-CpG binding protein 2 (MeCP2) is one of a few exceptional genes of established causal effect in ASD. Although genetically engineered mice studies may shed light on how MeCP2 loss affects synaptic activity patterns across the whole brain, such studies are not considered practical in ASD patients due to the overall level of impairment, and are technically challenging in mice. For the first time, we show that hippocampal MeCP2 knockdown produces behavioral abnormalities associated with autism-like traits in rats, providing a new strategy to investigate the efficacy of therapeutics in ASD. Ketamine, an N-Methyl-D-aspartate (NMDA) blocker, has been proposed as a possible treatment for autism. Using the MeCP2 knockdown rats in conjunction with a rat model of valproic acid (VPA)-induced ASD, we examined gene expression and ASD behaviors upon ketamine treatment. We report that the core symptoms of autism in MeCP2 knockdown rats with social impairment recovered dramatically following a single treatment with ketamine.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.31 no.1
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• pp.41-45
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• 2020

Objective: The objective of this study was to assess serum, hair, and urinary magnesium (Mg) levels in children with attention-deficit/hyperactivity disorder (ADHD), autism spectrum disorder (ASD), and both ASD and ADHD to reveal potential interactive effects. Methods: A total of 148 boys aged 4-9 years old were enrolled in this study, including 44 children with ADHD, 40 pediatric patients with ASD, 32 patients with both ADHD and ASD, as well as 32 healthy neurotypical children. Hair, serum, and urinary Mg levels were assessed using inductively-coupled plasma mass spectrometry (ICP-MS). Laboratory quality control was performed using certified reference materials of human hair, plasma, and urine. Results: No significant group difference in serum Mg levels was observed. Mg content in hair was found to be reduced in children with ADHD and ADHD+ASD compared to that in healthy controls by 11% and 15%, respectively. Urinary Mg levels in children with ADHD+ASD exceeded the control, ADHD, and ASD values by 51, 76, and 65%, respectively. Factorial analysis revealed significant contribution of ADHD to hair and urinary Mg levels. Multiple regression analysis demonstrated that hair and urinary Mg levels were considered as significant predictors of neurodevelopmental disorder complexity. Conclusion: We propose that impaired Mg status may provide a link between ADHD and ASD.

• Korean Journal of Biological Psychiatry
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• v.16 no.2
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• pp.121-126
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• 2009

Objectives : The serotonin transporter gene(SLC6A4) is one of the most widely studied candidate genes in autism spectrum disorder(ASD), but there have been conflicting results from studies into the association between SLC6A4 and ASD. The aim of this study was to evaluate the association between single nucleotide polymorphisms(SNPs) in the SLC6A4 gene and ASD in the Korean population. Methods : We selected 12 SNPs in SLC6A4 and observed the genotype of 151 Korean ASD trios. We tested the family-based association for each individual polymorphism and haplotype by using the standard TDT method in Haploview(http://www.broad.mit.edu/mpg/haploview/). Results : Through transmission-disequilibrium testing and haplotype analysis, we could not find any statistically significant transmitted allele or haplotype. In addition, a case-control association test with Korean HapMap data did not reveal any statistical significance. Conclusion : Although serotonin-related genes must be considered candidate genes for ASD, we suggest that common SNPs of SLC6A4 are not important markers for associations with Korean ASD.