• Genomics & Informatics
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• 제8권2호
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• pp.76-80
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• 2010

Although autism spectrum disorder (ASD) has been thought to have a substantial genetic background, major contributing genes have yet to be identified or successfully replicated. Immunological dysfunction has been suggested to be associated with ASD, and T cell-mediated immunity was considered important for the development of ASD. In this study, we analyzed 163 ASD subjects and 97 normal controls by genomic quantitative PCR to evaluate the association between the copy number variation of the 7q34 locus, harboring the TCRB gene, and ASDs. As a result, there was no significant difference of the frequency distribution of TCRB copy numbers between ASD cases and normal controls. TCRB gene copy numbers ranged from 0 to 5 copies, and the frequency distribution of each copy number was similar between the two groups. The proportion of the individuals with <2 copies of TCRB was 52.8% (86/163) in ASD cases and 57.1% (52/91) in the control group (p=0.44). The proportion of individuals with >2 copies of TCRB was 11.7% (19/163) in ASD cases and 12.1% (11/91) in the control group (p=0.68). After the effects of sex were adjusted by logistic regression, ORs for individuals with <2 copies or >2 copies showed no significant difference compared with the diploid copy number as reference (n=2). Although we could not see the positive association, our results will be valuable information for mining ASD-associated genes and for exploring the role of T cell immunity further in the pathogenesis of ASD.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• 제35권1호
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• pp.22-28
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• 2024

Interventions for targeted symptoms are important when setting treatment strategies for individuals with autism spectrum disorder (ASD) and developmental disabilities. Especially, the goal should be to achieve individual "niche construction" by allowing them to select and adjust an environment where they can demonstrate their special characteristics and strengths. In addition, these choices should vary depending on the stage of development of each person with ASD and developmental disabilities. It is necessary to establish a detailed and systematic plan for diagnosis and treatment necessary for infants and toddlers, school placement in school age, and employment or self-reliance in adult transition period to establish customized treatment strategies that fit the individual level of people with ASD and developmental disabilities.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• 제18권4호
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• pp.230-237
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• 2015

Purpose: Various gastrointestinal factors may contribute to maladaptive behavior in children with autism spectrum disorders (ASD). To determine the association between maladaptive behavior in children with ASD and gastrointestinal symptoms such as severity, intestinal microbiota, inflammation, enterocyte damage, permeability and absorption of opioid peptides. Methods: This observational cross-sectional study compared children with ASD to healthy controls, aged 2-10 years. Maladaptive behavior was classified using the Approach Withdrawal Problems Composite subtest of the Pervasive Developmental Disorder Behavior Inventory. Dependent variables were gastrointestinal symptom severity index, fecal calprotectin, urinary D-lactate, urinary lactulose/mannitol excretion, urinary intestinal fatty acids binding protein (I-FABP) and urinary opioid peptide excretion. Results: We did not find a significant difference between children with ASD with severe or mild maladaptive behavior and control subjects for gastrointestinal symptoms, fecal calprotectin, urinary D-lactate, and lactulose/mannitol ratio. Urinary opioid peptide excretion was absent in all children. Children with ASD with severe maladaptive behavior showed significantly higher urinary I-FABP levels compared to those with mild maladaptive behavior (p=0.019) and controls (p=0.015). Conclusion: In our series, maladaptive behavior in ASD children was not associated with gastrointestinal symptoms, intestinal inflammation (no difference in calprotectin), microbiota (no difference in urinary D-lactate) and intestinal permeability (no difference in lactulose/manitol ratio). ASD children with severe maladaptive behavior have significantly more enterocyte damage (increased urinary I-FABP) than ASD children with mild maladaptive behavior and normal children.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• 제18권2호
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• pp.123-129
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• 2007

Objectives: Autism is a complex neurodevelopmental spectrum disorder with a strong genetic component. Previous neurochemical and genetic studies have suggested the possible involvement of the serotonin system in autism. Tryptophan 2,3-dioxygenase(TDO2) is the rate-limiting enzyme in the catabolism of tryptophan, which is the precursor of serotonin synthesis. The aim of this study was to investigate the association between the TDO2 gene and autism spectrum disorders(ASD) in a Korean population. Methods: The patients were diagnosed with ASD on the basis of the DSM-IV diagnostic classification outlined in the Korean version of the Autism Diagnostic Interview-Revised and Autism Diagnostic Observation Schedule. The present study included the detection of four single nucleotide polymorphisms(SNPs) in the TDO2 gene(rs2292536, rs6856558, rs6830072, rs6830800) and the family-based association analysis of the single nucleotide polymorphisms in Korean ASD trios using a transmission disequilibrium test(TDT) and haplotype analysis. The family trios of 136 probands were included in analysis. 87.5% were male and 86.0% were diagnosed with autism. The mean age of the probands was $78.5{\pm}35.8$ months(range: 26-264 months). Results: Two SNPs showed no polymorphism, and there was no significant difference in transmission in the other two SNPs. We also could not find any significant transmission in the haplotype analysis(p>.05). Conclusion: We could not find any significant statistical association between the transmission of SNPs in the TDO2 gene and ASD in a Korean population. This result may not support the possible involvement of the TDO2 gene in the development of ASD, and further exploration might be needed to investigate other plausible SNP sites.

• 대한치과마취과학회지
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• 제12권3호
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• pp.165-171
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• 2012

Background: The aim of this study was to investigate and compare the oral health conditions of Autism Spectrum Disease (ASD) and cerebral palsy(CP) patients visiting the Kyung Hee University Dental Hospital from January 2003 to december 2010. Methods: This study analyzed the data (patient's chart and radiograph) of fifty-eight ASD patients and fifty-seven CP patients. The oral health conditions of patients were surveyed by DMFT (dmft) and periodontal condition at the first visit. The performed dental procedure, behavior management methods and follow-up check were analyzed. Results: The average age of patients having ASD and CP was 12 year 2 month (ASD; 11 year 9 month and CP; 12 year 4 month). Within the limit of this study, the rate of dental caries was higher in CP patients than autism patients. Both of diseases showed the periodontal problem. Autistic patients showed more difficult management problems according to the rate of general anesthesia experiences. Conclusions: This article would contribute for dental practitioners to provide appropriate and specialized treatment to ASD patients and CP patients.

• International Journal of Advanced Culture Technology
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• 제12권3호
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• pp.148-158
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• 2024

We investigate Autism Spectrum Disorder (ASD), which is typified by deficits in social interaction, repetitive behaviors, limited vocabulary, and cognitive delays. Traditional diagnostic methodologies, reliant on expert evaluations, frequently result in deferred detection and intervention, particularly in South Korea, where there is a dearth of qualified professionals and limited public awareness. In this study, we employ advanced deep learning algorithms to enhance early ASD screening through automated video analysis. Utilizing architectures such as Convolutional Long Short-Term Memory (ConvLSTM), Long-term Recurrent Convolutional Network (LRCN), and Convolutional Neural Networks with Gated Recurrent Units (CNN+GRU), we analyze video data from platforms like YouTube and TikTok to identify stereotypic behaviors (arm flapping, head banging, spinning). Our results indicate that the LRCN model exhibited superior performance with 79.61% accuracy on the augmented platform video dataset and 79.37% on the original SSBD dataset. The ConvLSTM and CNN+GRU models also achieved higher accuracy than the original SSBD dataset. Through this research, we underscore AI's potential in early ASD detection by automating the identification of stereotypic behaviors, thereby enabling timely intervention. We also emphasize the significance of utilizing expanded datasets from social media platform videos in augmenting model accuracy and robustness, thus paving the way for more accessible diagnostic methods.

• Biomolecules & Therapeutics
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• 제30권3호
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• pp.232-237
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• 2022

Autism spectrum disorder (ASD) having core characteristics of social interaction problems and repetitive behaviors and interests affects individuals at varying degrees and comorbidities, making it difficult to determine the precise etiology underlying the symptoms. Given its heterogeneity, ASD is difficult to treat and the development of therapeutics is slow due to the scarcity of animal models that are easy to produce and screen with. Based on the theory of excitation/inhibition imbalance in the brain with ASD which involves glutamatergic and/or GABAergic neurotransmission, a pharmacologic agent to modulate these receptors might be a good starting point for modeling. N-methyl-D-aspartic acid (NMDA) is an amino acid derivative acting as a specific agonist at the NMDA receptor and therefore imitates the action of the neurotransmitter glutamate on that receptor. In contrast to glutamate, NMDA selectively binds to and regulates the NMDA receptor, but not other glutamate receptors such as AMPA and kainite receptors. Given this role, we aimed to determine whether NMDA administration could result in autistic-like behavior in adolescent mice. Both male and female mice were treated with saline or NMDA (50 and 75 mg/kg) and were tested on various behavior experiments. Interestingly, acute NMDA-treated mice showed social deficits and repetitive behavior similar to ASD phenotypes. These results support the excitation/inhibition imbalance theory of ASD and that NMDA injection can be used as a pharmacologic model of ASD-like behaviors.

• Clinical and Experimental Pediatrics
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• 제62권4호
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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.

• 정신신체의학
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• 제24권2호
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• pp.157-164
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• 2016

Objectives : The objective of this study was to investigate the characteristics of language profiles according to whether or not Korean children with autism spectrum disorder(ASD) also have ADHD, and to examine the relationship with executive function. Methods : Participants in the study were boys with ADHD aged 6 to 11 years who visited the clinic from January 2012 to December 2013. In this study, 25 boys with ASD were included, and completed scales included the Korean version of Autism Diagnostic Interview-Revised(K-ADI-R), Korean version of Autism Diagnostic Observation Schedule(K-ADOS), Korean ADHD Rating Scale(K-ARS), and Korean-Conners' Parent Rating Scale(K-CPRS). They also completed neuropsychological tests and assessed language profiles. Patients were categorized into two groups(with ADHD and without ADHD). T-test and Multivariate analysis of covariance (MANCOVA) was used for analysis. Results : Statistically, no difference was found in receptive and expressive language ability between the ASD groups with and without ADHD. However, a lower score in Test of Problem solving(TOPS) was observed for ASD with ADHD than for ASD without ADHD, with problem solving and finding cues showing significant differences. Conclusions : These findings suggest that language profiles in the ASD group without ADHD could be similar to those in the ASD group with ADHD, but comorbid ADHD could lead to more difficulty in linguistic ability for problem solving and could be related with executive function of the frontal lobe.

• 대한한방소아과학회지
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• 제35권1호
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• pp.122-138
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• 2021

Objectives The purpose of this study is to widely utilize the clinical practice guideline for autism spectrum disorder (ASD) by investigating parents who have children with ASD about their perception in ASD and their thoughts on Korean medicine treatment to treat ASD. Methods We conducted a survey on 'perception of ASD' and 'perception and preference of Korean medicine treatment for ASD' on the parents of 22 children with ASD (age 4-6) who visited department of pediatrics of Korean medicine at Kyunghee University Korean medicine hospital at Gangdong and Kyunghee University Korean medicine hospital. Results Of the parents, 20 (90.91%) said their children had no experience with Korean medicine treatment. Among them, 11 (35.48%) chose 'I didn't know that Korean medicine treats ASD' for the reason (multiple choice). When questioned what the worries are for Korean medicine treatment, 13 (30.95%) chose 'worries about probability of side effects of herbal medicine' as the most worrisome reason (multiple choice). On the question about the necessity of Korean medicine for the treatment of ASD, most chose 'Korean medicine treatments are necessary for children with ASD' (9, 40.91%). Conclusions It is necessary to develop a clinical practice guideline that reflects comprehensive evidence for side effects as well as the effectiveness of Korean medicine for ASD, and is necessary to promote the effectiveness and evidence-based Korean medicine treatment to patients and their caregivers through various distribution tools.