• ETRI Journal
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• 제44권4호
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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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• 제52권7호
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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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• 제58권1호
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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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• 제30권1호
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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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• 제65권3호
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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.

• 대한감각통합치료학회지
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• 제20권3호
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• pp.48-59
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• 2022

목적 : 본 연구는 자폐스펙트럼장애 아동을 대상으로 국내에서 제공되는 감각통합중재 방법을 체계적으로 고찰하여 중재효과를 제시하고자 하였다. 연구방법 : 연구대상은 2011년 1월부터 2020년 12월까지 최근 10년간 국내 학회지에 게재된 연구로 하였다. 검색에 사용된 데이터베이스는 학술연구정보서비스(RISS)와 디비피아(DBpia)이었다. 검색어는 '자폐', '자폐스펙트럼', '감각통합', '중재'이었다. 분석에 사용된 연구는 총 10개로, 연구 근거의 질적수준과 방법론적 질적수준으로 분석하였고, 결과는 대상자, 중재, 대조, 결과의 PICO(Patient, Intervention, Comparison, Outcome)로 제시하였다. 결과 : 연구분석에서 근거의 질적 수준은 수준 IV가 가장 높았고, 다음으로 수준 II 이었다. 근거의 방법론적 질적 수준은 '우수'의 연구가 가장 많았고, 다음으로는 '보통'이었다. 연구대상자는 자폐스펙트럼장애아동과 부모이었고, 실험설계는 단일대상연구 빈도가 가장 높았다. 중재는 적응행동과 감각조절을 확인하는 연구가 가장 많았고, 중재측정을 위해 사용된 평가도구는 감각프로파일(Sensory Profile)과 캐나다작업수행측정(Canadian Occupational Performance Measure; COPM)의 빈도가 가장 높았다. 분석에 사용된 10개의 모든 연구에서 감각통합중재로 인해 다양한 결과 값에 긍정적인 향상 및 통계학적으로 유의한 효과를 보였다. 결론 : 최근의 임상환경에서 자폐스펙트럼장애 아동을 대상으로 감각통합중재는 지속적으로 이루어져왔다. 앞으로의 연구에서는 다양한 감각통합중재방법과 근거의 질적 수준이 높은 연구가 이루어지는 것이 필요하다.

• Genomics & Informatics
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• 제15권3호
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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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• 제62권11호
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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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• 제38권4호
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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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• 제34권2호
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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.