• ETRI Journal
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• v.44 no.4
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• pp.613-623
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• 2022

Autism spectrum disorder (ASD) is a developmental disorder associated with cognitive and neurobehavioral disorders. It affects the person's behavior and performance. Autism affects verbal and non-verbal communication in social interactions. Early screening and diagnosis of ASD are essential and helpful for early educational planning and treatment, the provision of family support, and for providing appropriate medical support for the child on time. Thus, developing automated methods for diagnosing ASD is becoming an essential need. Herein, we investigate using various machine learning methods to build predictive models for diagnosing ASD in children using facial images. To achieve this, we used an autistic children dataset containing 2936 facial images of children with autism and typical children. In application, we used classical machine learning methods, such as support vector machine and random forest. In addition to using deep-learning methods, we used a state-of-the-art method, that is, automated machine learning (AutoML). We compared the results obtained from the existing techniques. Consequently, we obtained that AutoML achieved the highest performance of approximately 96% accuracy via the Hyperpot and tree-based pipeline optimization tool optimization. Furthermore, AutoML methods enabled us to easily find the best parameter settings without any human efforts for feature engineering.

• BMB Reports
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• v.52 no.7
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• pp.424-433
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• 2019

Autism spectrum disorder (ASD) is a complex neurodevelopmental monogenic disorder with a strong genetic influence. Idiopathic autism could be defined as a type of autism that does not have a specific causative agent. Among signalling cascades, mTOR signalling pathway plays a pivotal role not only in cell cycle, but also in protein synthesis and regulation of brain homeostasis in ASD patients. The present review highlights, underlying mechanism of mTOR and its role in altered signalling cascades as a triggering factor in the onset of idiopathic autism. Further, this review discusses how distorted mTOR signalling pathway stimulates truncated translation in neuronal cells and leads to downregulation of protein synthesis at dendritic spines of the brain. This review concludes by suggesting downstream regulators such as p70S6K, eIF4B, eIF4E of mTOR signalling pathway as promising therapeutic targets for idiopathic autistic individuals.

• Clinical and Experimental Pediatrics
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• v.58 no.1
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• pp.8-14
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• 2015

In patients with a language developmental delay, it is necessary to make a differential diagnosis for autism spectrum disorders (ASDs), specific language impairment, and mental retardation. It is important that pediatricians recognize the signs and symptoms of ASDs, as many patients with language developmental delays are ultimately diagnosed with ASDs. Pediatricians play an important role in the early recognition of ASDs, because they are usually the first point of contact for children with ASDs. A revision of the diagnostic criteria of ASDs was proposed in the Diagnostic and Statistical Manual of Mental Disorders, fifth edition (DSM-5) that was released in May 2013. The autism spectrum describes a range of conditions classified as neurodevelopmental disorders in the fifth edition of the DSM. The new diagnostic criteria encompasses previous elements from the diagnosis of autistic disorder, Asperger disorder, childhood disintegrative disorder, and pervasive developmental disorder-not otherwise specified. An additional change to the DSM includes synthesizing the section on social and communication deficits into one domain. In ASD patients, the appropriate behavioral therapies and rehabilitation treatments significantly affect the prognosis. Therefore, this makes early diagnosis and treatment very important. In conclusion, pediatricians need to be able to recognize the signs and symptoms of ASDs and be attentive to them in order to make an early diagnosis and provide treatment.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.30 no.1
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• pp.9-16
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• 2019

Objectives: The purpose of this study was to analyze the discriminant validity and the clinical cut off scores of the Child Behavior Checklist 1.5-5 (CBCL 1.5-5) in the diagnosis of autism spectrum disorder (ASD) and non-ASD. Methods: In total, 104 ASD and 441 non-ASD infants were included in the study. T-test, discriminant analysis, receiver operating characteristic (ROC) curve analysis, and odds ratio analysis were performed on the data. Results: The discriminant validity was confirmed by mean differences and discriminant analysis on the subscales of Emotionally reactive, Somatic complaints, Withdrawn, Sleep problems, Attention problems, Aggressive behavior, Internalizing problems, Externalizing problems, and Total problems, along with the Diagnostic and Statistical Manual of Mental Disorders (DSM)-oriented scales between the two groups. ROC analysis showed that the following subscales significantly separated ASD from normal infants: Emotionally reactive, Somatic complaints, Withdrawn, Sleep problems, Attention problems, Aggressive behavior, Internalizing problems, Externalizing problems, Total problems, and DSM pervasive developmental problems. Moreover, the clinical cut off score criteria adopted in the Korean-CBCL 1.5-5 were shown to be valid for the subscales Withdrawn, Internalizing problems, Externalizing problems, Total problems, and DSM pervasive developmental problems. Conclusion: The subscales of Withdrawn, Internalizing problems, Externalizing problems, Total problems, and DSM pervasive developmental problems significantly discriminated infants with ASD.

• Clinical and Experimental Pediatrics
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• v.65 no.3
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• pp.131-135
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• 2022

Purpose: There is inconsistent evidence about the association between fetal nuchal cord and the risk of autism spectrum disorder (ASD). We performed a meta-analysis to investigate whether fetal nuchal cord is associated with an increased risk of ASD in offspring. Methods: Three main English databases were searched until January 2021. The Newcastle-Ottawa Scale was used to assess study quality. Study heterogeneity was determined using the I 2 statistic, while publication bias was assessed using Begg and Egger tests. Results are presented as odds ratios (ORs) and relative ratios with 95% confidence intervals (CI) and were determined by a random-effects model. Results: Five articles (1 cohort, 4 case-control; 3,088 total children) were included in the present meta-analysis. Fetal nuchal cord was not a risk factor for ASD (OR, 1.11; 95% CI, 0.66-1.57). There was homogeneity among studies that reported a risk of ASD (I²=0.0%). Conclusion: Our results showed that fetal nuchal cord is not a risk factor for ASD. Future large cohort studies should confirm this finding.

• The Journal of Korean Academy of Sensory Integration
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• v.20 no.3
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• pp.48-59
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• 2022

Objective : This study was intended to systematically consider the sensory integration intervention methods offered in Korea for children with autism spectrum disorder and to provide an evidence base for the application of sensory integration interventions. Methods : The subjects of this study were published studies in a national journal for the last 10 years from January 2011 to December 2020. The databases used for the search were RISS and DBpia. The search terms were 'autism', 'autism spectrum', 'sensory integration', and 'intervention'. A total of 10 studies were used in the analysis, which were analyzed at the qualitative and methodological quality of the research evidence and the results were presented according to the PICO (Patient, Intervention, Comparison, Outcome). Results : In the research analysis, the quality level of the evidence was highest at level IV, followed by level II. The methodological quality of the evidence was the most common for 'Good' research, followed 'Fair'. The study subjects were children with autism spectrum disorder and their parents, and the experimental design had the highest frequency of single-subject studies. Interventions have the highest number of studies confirming adaptive behavior and sensory modulation, and the evaluation tools used to measure interventions have the highest frequency of sensory profiles and Canadian occupational performance measures (COPM). All 10 studies used in the analysis showed positive improvements and statistically significant effects on various outcome values from sensory integration interventions. Conclusion : In the recent clinical environment, sensory integration interventions have been continuously conducted in children with autism spectrum disorder. In future research, it is necessary to conduct research on various sensory integration intervention methods and the high quality of the evidence for the application of sensory integration interventions.

• Genomics & Informatics
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• v.15 no.3
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• pp.82-86
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• 2017

Chromosomal microarray (CMA) is a high-resolution, high-throughput method of identifying submicroscopic genomic copy number variations (CNVs). CMA has been established as the first-line diagnostic test for individuals with developmental delay (DD), intellectual disability (ID), autism spectrum disorders (ASDs), and multiple congenital anomalies (MCAs). CMA analysis was performed in 42 Korean patients who had been diagnosed with unexplained DD, ID, ASDs, and MCAs. Clinically relevant CNVs were discovered in 28 patients. Variants of unknown significance were detected in 13 patients. The diagnostic yield was high (66.7%). CMA is a superior diagnostic tool compared with conventional karyotyping and fluorescent in situ hybridization.

• Clinical and Experimental Pediatrics
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• v.62 no.11
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• pp.405-409
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• 2019

A structured review study of drug interventions on sleep disorders in patients with autism spectrum disorders (ASD) has not been published to date. This systematic review aimed to investigate drug interventions for the treatment of sleep disorders in children with ASD. The Web of Science, PubMed, and Scopus databases were searched until March 2019. Study quality was assessed using the Delphi checklist. Due to the heterogeneity of the findings, a meta-analysis was not possible. Drug interventions for the treatment of sleep disorders in patients with ASD included melatonin, atomoxetine, and risperidone. Atomoxetine had no effect on sleep disorders in patients with ASD. A total of 10 studies were reviewed. Melatonin appears to be useful for the treatment of sleep problems in patients with ASD, but further studies are needed to determine the effects of other drugs.

• Journal of Yeungnam Medical Science
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• v.38 no.4
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• pp.275-281
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• 2021

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by abnormalities in social communication/interaction and restrictive, repetitive patterns of behavior. ASD is a relatively common psychiatric disorder, with a prevalence of approximately 1.7% in children. Although many children and adolescents with ASD visit the hospital for medical help for emotional and behavioral problems such as mood instability and self-harming behavior, there are also many visits for sleep disturbances such as insomnia and sleep resistance. Sleep disturbances are likely to increase fatigue and daytime sleepiness, impaired concentration, negatively impact on daytime functioning, and pose challenges in controlling anger and aggressive behavior. Sleep disturbance in children and adolescents with ASD negatively affects the quality of life, nothing to say the quality of life of their families and school members. In this review, sleep disturbances that are common in children and adolescents with ASD and adolescents are presented. The developmental and behavioral impacts of sleep disturbances in ASD were also considered. Finally, non-pharmacological and pharmacological treatments for sleep disturbances in children and adolescents with ASD and adolescents are reviewed.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.34 no.2
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• pp.112-116
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• 2023

Numerous films and TV series worldwide have depicted characters with autism spectrum disorder (ASD) and savant skills. This study describes the portrayal of ASD and savant skills in Korean films and dramas. Starting with the 2005 film Marathon, characters with ASD have been featured in five films and four dramas. Most portrayals were based on the diagnostic criteria and pathogenesis of ASD, as outlined in the DSM-5. Of the 10 characters with ASD in these films and dramas, seven were male and three were female, with seven of them possessing savant skills. In the future, caution and guidance on the general characteristics of ASD from experts should be provided with the release of ASD-based films and TV dramas in Korea; in addition, critiques and social discourse pertinent to the reality of ASD should be provided by people with ASD, their families, and relevant experts.