• Clinical Psychopharmacology and Neuroscience
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• v.16 no.4
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• pp.415-421
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• 2018

Objective: Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by impairment in social skills and communication with repetitive behaviors. Etiology is still unclear although it is thought to develop with interaction of genes and environmental factors. Oxytocin has extensive effects on intrauterine brain development. Vitamin D, affects neural development and differentiation and contributes to the regulation of around 900 genes including oxytocin receptor gene. In the present study, the contribution of D vitamin receptor and oxytocin receptor gene polymorphisms in the development of ASD in Turkish community was investigated. To our knowledge, this is the first study examining these two associated genes together in the literature. Methods: Eighty-five patients diagnosed with ASD according to DSM-5 who were referred to outpatient clinics of Child and Adolescent Psychiatry of Başkent University and Mersin University and 52 healthy, age and gender-matched controls were included in the present study. Vitamin D receptor gene rs731236 (Taq1), rs2228570 (Fok1), rs1544410 (Bsm1), rs7975232 (Apa1) polymorphisms and oxytocin receptor gene rs1042778 and rs2268493 polymorphisms were investigated using real time polymerase chain reaction method. Results: No significant difference between groups in terms of distribution of genotype and alleles in each of polymorphisms for these genes could be found. Conclusion: Knowledge of genes and polymorphisms associated with the development of ASD may be beneficial for early diagnosis and future treatment. Further studies with larger populations are required to demonstrate molecular pathways which may play part in the development of ASD in Turkey.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.22 no.4
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• pp.287-293
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• 2011

Objectives : The region of chromosome 5p14 is known to be associated with autism spectrum disorder (ASD). The cadherin9 (CDH9) and cadherin10 (CDH10) genes are located in the region of chromosome 5p14 and reported to be associated with ASD in the Caucasian population. We performed an association study to identify if single nucleotide polymorphisms (SNPs) located on the CDH9 and CDH10 genes are associated in the Korean population. Methods : Genomic DNA was extracted from the blood of 214 patients with ASD and 258 controls. SNPs selected from two genes were genotyped using an Illumina Golden-Gate Genotyping assay with VeraCode technology. Statistical analysis was performed using SAS and Plink software. Results : All controls and ASD patients were in Hardy-Weinberg equilibrium. In the results of logistic regression analyses for the genotype model and the chi-square test for the allele model, we found that SNPs on the CDH9 and CDH10 genes were not associated with ASD. Conclusion : Our data suggests that the CDH9 and CDH10 genes are not associated with ASD in the Korean population.

• Journal of Music and Human Behavior
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• v.18 no.2
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• pp.19-43
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• 2021

The purpose of this case study was to examine whether an interactive music-making intervention using GarageBand was applicable to improve the social communication skills of school-age children with autism spectrum disorder (ASD). Two children with ASD (both male, ages = 8 and 11 yrs.) participated in this study. The interactive music-making intervention included three stages: 1) musical imitation, 2) musical expression and coordination, and 3) musical interaction. Each session lasted 40 minutes, and sessions took place twice a week over 4 weeks. The participants' social communication behaviors were observed and analyzed in terms of exchanging ideas with each other. Engagement in interactive behaviors (e.g., turn-taking, imitating or reflecting the investigator's music, and creating one's own music using the motive from the investigator) during music making was also analyzed. During the sessions, increases in the attempts to express their opinions on music making processes and requests for help for the process were observed. Engagement in turn-taking form of interactive playing and reflecting the musical motive from a partner (i.e., investigator) were also improved. The Social Responsiveness Scale-2 (SRS-2) ratings indicated negative social behaviors decreased after intervention in both participants. The findings of this study suggest that interactive music-making activities using GarageBand can be an effective method in clinical practice to improve social communication skills for school-aged children with ASD.

• Journal of Music and Human Behavior
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• v.18 no.1
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• pp.29-62
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• 2021

This study aimed to investigate the feasibility of an interactive singing-based synchronous videoconferencing program for children with autism spectrum disorder (ASD). This study was conducted in four stages: analysis of interactive singing tasks in the literature for children with ASD, examination of differences in perception of sounds transmitted via synchronous videoconferencing platform depending on the type of singing tasks and accompaniment, construction of singing-based synchronous videoconferencing program and determination of its validity, and implementation of the constructed program with three children with ASD and confirmation of its feasibility. The results showed that different types of singing tasks and accompaniment affected perception of sounds transmitted online, which highlights the importance of considering such effects when designing synchronous videoconferencing music therapy programs. Also, increases in program engagement and singing behaviors were observed for all three participants, and their caregivers reported high levels of satisfaction with the program. The findings support the applicability of this intervention as a tele-music alternative during the COVID-19 pandemic. Clinical implications and suggestions are discussed.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.28 no.4
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• pp.228-234
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• 2017

Objectives: The aim of this study was to investigate the clinical characteristics of aggressive behavior problems in children and adolescents with autism spectrum disorder (ASD). Methods: Children and adolescents with ASD, aged 6-18 years, were included in this study. We divided them into two groups according to the presence or absence of aggressive behavior. They were assessed using three scales, the Korean-Child Behavior Checklist (K-CBCL), Behavior Problem Inventory, and Social Communication Questionnaire, which were completed by their parents, who conducted a continuous performance test to evaluate their attention function. The statistical analysis was done using the Mann-Whitney U-test between the two groups at a p-value of 0.05. Results: A total of 17 children participated in this study. Ten children (7 boys, $12.4{\pm}4.27years$) were included in the group with aggressive behavior problems and 7 children (6 boys, $13.8{\pm}3.53years$) in the group without aggressive behavior problems. There were no significant differences in the age, gender or intelligence quotient of the two groups. The children with aggressive behavior problems showed a trend of higher T-scores in the attention problems and anxiety/depressed subscale of the CBLC (p<0.1). Conclusion: The results suggest that aggressive behavior problems in children with ASD may be related to their attention problems, anxiety and depression.

• Molecules and Cells
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• v.40 no.2
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• pp.151-161
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• 2017

Proper synaptic function in neural circuits requires precise pairings between correct pre- and post-synaptic partners. Errors in this process may underlie development of neuropsychiatric disorders, such as autism spectrum disorder (ASD). Development of ASD can be influenced by genetic factors, including copy number variations (CNVs). In this study, we focused on a CNV occurring at the 16p11.2 locus in the human genome and investigated potential defects in synaptic connectivity caused by reduced activities of genes located in this region at Drosophila larval neuromuscular junctions, a well-established model synapse with stereotypic synaptic structures. A mutation of rolled, a Drosophila homolog of human mitogen-activated protein kinase 3 (MAPK3) at the 16p11.2 locus, caused ectopic innervation of axonal branches and their abnormal defasciculation. The specificity of these phenotypes was confirmed by expression of wild-type rolled in the mutant background. Albeit to a lesser extent, we also observed ectopic innervation patterns in mutants defective in Cdk2, Gq, and Gp93, all of which were expected to interact with Rolled MAPK3. A further genetic analysis in double heterozygous combinations revealed a synergistic interaction between rolled and Gp93. In addition, results from RT-qPCR analyses indicated consistently reduced rolled mRNA levels in Cdk2, Gq, and Gp93 mutants. Taken together, these data suggest a central role of MAPK3 in regulating the precise targeting of presynaptic axons to proper postsynaptic targets, a critical step that may be altered significantly in ASD.

• Korean Journal of Psychosomatic Medicine
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• v.24 no.2
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• pp.165-173
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• 2016

Objectives : Since the awareness of autism spectrum disorders(ASD) is growing, as a result, it is increasing numbers of infants and toddlers being referred to specialized clinics for a differential diagnosis and the importance of early autism spectrum disorders detection is emphasized. This study is to know the difference between ASD and intellectual disability(ID) from comparison of the demographics, clinical characters and obstetric complications. Methods : The participants are 816 toddlers who visited the developmental delay clinic(DDC) in National Health Insurance Ilsan hospital. The number of toddlers diagnosed as ASD and ID was 324 and 492. 75 toddlers out of 114 who returned to DDC were diagnosed as ID at the first visit but 7 of them had changed diagnosis to ASD at the second visit. After compared ASD with ID from the first visit, we analyzed characters of toddlers who had the changed diagnosis to ASD at the second visit. Results : As a result, the comparison between ASD and ID at the first visit shows that the boys have higher ratio, lower obstetric complication and lower language assessment score in ASD. The toddlers who had the changed diagnosis at the second visit were all boys and they had more cases of family history of developmental delay and had lower score of receptive language developmental quotient. Conclusions : These findings suggest that sex, language characteristics and obstetric complication could be useful in the early detection of ASD.

• Therapeutic Science for Rehabilitation
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• v.8 no.4
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• pp.19-31
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• 2019

Objective : The purpose of this study was to examine differences of psychological symptoms for mothers of infants with autism spectrum disorder(ASD) according to the level of parenting stress. Methods : The subjects were seventy-two mothers of infants with ASD(aged 22 months to 71 months) completed Korean Parenting Stress Index (K-PSI) and Minnesota Multiphasic Personality Inventory(MMPI-2). The data was analyzed using SPSS 23.0 program. Results : First, total and parent domain of parenting stress were positively correlated with several clinical scales of MMPI-2. However, there was no significant association between the child domain of parenting stress and clinical scale MMPI-2. Second, as a result of verified the difference of psychological symptoms according to level of total and parent domain of parenting stress, high-risks group was significantly higher scores in several clinical scales of MMPI-2 relative to those in normal range group. However, regarding the association between the child domain of parenting stress and psychological symptoms, there was no significant difference in psychological symptoms between high-risks group and normal range group. Conclusions : The results of this study have implications for verified the difference of psychological symptoms according to level of parenting stress among mothers of infants with ASD.

• Therapeutic Science for Rehabilitation
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• v.7 no.4
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• pp.57-66
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• 2018

Objective: The purpose of this study is to investigate the effect of interactive metronome (IM) training on attention among children on the autistic spectrum. Methods: This is a single case study, using ABA design, of one child with autism spectrum disorder (ASD) who had attentional difficulties. A total of 20 sessions were conducted: 3 baseline sessions (A), 14 intervention sessions (B), and 3 follow-up baseline sessions (A'). During the intervention period (B), IM training was performed. Inattention and attention activities were measured as the dependent variables in all three phases (A, B, and A'). Results: Compared to baseline, the subject's inattention decreased in the IM training mediation period, and the performance of activities requiring attention also improved. The intervention effect was maintained even during the follow-up baseline period. Conclusion: The results of this study suggest that IM training positively influences attention among children with ASD with attention deficit symptoms. Further, it provides the clinical basis of IM training as an intervention for children with ASD.

• Journal of the Korea Convergence Society
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• v.9 no.3
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• pp.153-163
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• 2018

The purpose of this research is to investigate the research trends on the clinical use of robots for children with autistic spectrum disorders. In order to understand research trends in the context of the clinical use of robots for children with ASD, recent studies on the use of robot in the educational and therapeutic intervention were examined. Critical literature review is used as research method. Recent studies of 17 articles are chosen with two filters of 1) publication years since 2009, and 2) two key-words; robot and ASD. Further, literature on research trends is scrutinized and categorized according to the kinds of robots that are used, the types of independent and dependent variables, and research methods. The result of this research indicated that recent years, the clinical use of interactive robots with children with disability has received considerable attention in light of the proven utility of educational and therapeutic intervention. Rapid progress in robotics, especially in the area of ASD, offers tremendous possibilities for innovation in treatment for children with ASD. In conclusion, this study addresses the need of further study on the implementation procedures and protocols of clinical robots that will make the adoption feasible and easy.