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In this study, we evaluated the association between autism spectrum disorders (ASDs) and 10 single-nucleotide polymorphisms (SNPs) in the 5' region of the semaphorin 5A gene (SEMA5A) for 250 Korean trios including children with ASDs. Family-based association testing and haplotype analysis revealed a statistically significant association between rs194085 and multiple sociality traits with Korean ASDs in the dominant model (p

Objective This study aimed to investigate the adolescent brain activation patterns in response to performance feedback (PF), social reward (SR) and monetary reward (MR) and their association with psychological factors. Methods Functional magnetic resonance imaging (fMRI) was performed while middle school boys (n=15) performed tests pertained to PF, SR and MR. The brain activation pattern in each condition was investigated, and the extent of brain activation in each of the three conditions was compared at once. Results The caudate and the dorsal prefrontal area were activated in all three conditions. Furthermore, the cuneus showed significantly greater activation in the PF condition than the SR or MR condition. And the self - related areas, such as the right precentral gyrus and paracenral lobule, were more activated in the SR condition than the PF or MR condition. The left middle frontal gyrus was more activated in the MR condition than the PF or SR condition. Conclusion Not only various reward stimuli but also feedback stimulus might commonly activate dorsal prefrontal and subcortical area in adolescents. Moreover, several different brain activation patterns were also observed in each condition. The results of this study could be applied to planning of learning and teaching strategy for adolescents in various ways.

정신의학은 의학 분야에서의 일반적 치료 방식-투약, 시 술, 수술 등-이외의 치료 방법을 가장 많이 도입하는 분야이 다. 우선 정신치료 영역은 단일 방식이 아닌 매우 다양한 방 식으로 존재하고 있으며, 정신치료 이외의 여러 치료 혹은 요 법들도 환자의 치유와 회복을 위해 자주 이용되고 있다. 음악 치료, 미술 치료, 무용 치료 등 예술 분야와 연관되는 치료법 도 많은데, 이러한 치료법들이 환자들의 마음과 몸, 특히 뇌 에서 어떠한 변화를 정확히 일으키는지를 아직 잘 모르고 있 다. 일반적인 정신건강 영역에서도 마찬가지인데, 마음의 안식 을 얻기 위해 미술 작품을 감상하고, 음악을 듣고, 무용 감상 을 할 때 이들의 뇌에는 어떠한 변화가 일어나는지 잘 모른다. 그동안 이러한 의문들을 정신의학의 연구 영역에서 다루 지 않았던 것은 실제 연구 수행에 이용할 수 있는 뇌 영상 기 법 등의 기술 발전이 최근에 이루어졌기 때문이기도 하지만, 보다 중요한 이유는 ‘주관성’과 ‘실효성’에 대한 선입견 때문 이었다. 작가의 혹은 감상자의 주관성이 절대적으로 우선시 되는 예술이라는 영역에 대한 객관적 연구가 과연 가능한가 에 대한 비판적 시각이 있는 게 사실이며, 정신질환의 병인에 대한 생물-심리-사회적 접근만으로도 환자의 치료에서 어 느 정도 효과를 발휘하는 상황에서 상기 영역에 대한 연구는 그다지 실용적인 결과를 내놓지 않을 것이라는 관측도 존재 한다. 그러나 객관성과 실효성을 강조한 정신의학의 기존의 연 구 방법으로 밝혀낸 정신질환에 대한 병인 및 치료의 수준은 아직도 많은 임상가들을 만족시키지 못하고 있다. 이런 점에 서 볼 때 수 년 전부터 언급되기 시작하여 지금은 최고의 트 렌드 중 하나로 인식되는 각 학문간의 융합 혹은 통섭 현상에 주목해볼 필요가 있다. 통섭 현상은 초창기의 여러 가지 우려 와 오해를 불식시키면서 학문뿐만 아니라 실제 산업현장에 서도 실질적인 성과를 양산하고 있다. 환자에 대한 생물-심 REVIEW ARTICLE

OBJECTIVE The purpose of this study was to investigate the association between the T102C polymorphism in the serotonin 2A receptor gene and attention-deficit/hyperactivity disorder (ADHD) in Korean patients. METHODS A total of 189 Korean children with ADHD as well as both parents of the ADHD children and 150 normal children participated in this study. DNA was extracted from blood samples from all of the subjects, and genotyping was conducted. Based on the allele and genotype information obtained, case-control analyses were performed to compare the ADHD and normal children, and Transmission disequilibrium tests (TDTs) were used for family-based association testing (number of trios=113). Finally, according to the significant finding which was showed in the case-control analyses, the results of behavioral characterastics and neuropsychological test were compared between ADHD children with and without the C allele. RESULTS In the case-control analyses, statistically significant differences were detected in the frequencies of genotypes containing the C allele (χ(2)=4.73, p=0.030). In the family-based association study, TDTs failed to detect linkage disequilibrium of the T102C polymorphism associated with ADHD children. In the ADHD children, both the mean reaction time and the standard deviation of the reaction time in the auditory continuous performance test were longer in the group with the C allele compared to the group without the C allele. CONCLUSION The results of this study suggest that there is a significant genetic association between the T102C polymorphism in the serotonin 2A receptor gene and ADHD in Korean children.

Objective Communication problems are a prevalent symptom of autism spectrum disorders (ASDs), which have a genetic background. Although several genome-wide studies on ASD have suggested a number of candidate genes, few studies have reported the association or linkage of specific endophenotypes to ASDs. Methods Forty-two Korean ASD patients who showed a language delay were enrolled in this study with their parents. We performed a genome-wide scan by using the Affymetrix SNP Array 5.0 platform to identify candidate genes responsible for language delay in ASDs. Results We detected candidate single-nucleotide polymorphisms (SNPs) in chromosome 11, rs11212733 (p-value=9.76×10-6) and rs7125479 (p-value=1.48×10-4), as a marker of language delay in ASD using the transmission disequilibrium test and multifactor dimensionality reduction test. Conclusion Although our results suggest that several SNPs are associated with language delay in ASD, rs11212733 we were not able to observe any significant results after correction of multiple comparisons. This may imply that more samples may be required to identify genes associated with language delay in ASD.

OBJECTIVE: Attention-deficit/hyperactivity disorder (ADHD) is a complex neurodevelopmental disorder with a strong genetic component. Brain-derived neurotrophic factor (BDNF), which participates in the differentiation and survival of dopaminergic and noradrenergic neurons, could play a role in ADHD development. We aimed to explore the relationships between ADHD and BDNF gene polymorphism. METHODS: We conducted a case-control analysis of 202 ADHD subjects and 159 controls, performed a transmission disequilibrium test on 151 trios, and compared the results of a continuous performance test (CPT) according to the genotype of the three single nucleotide polymorphisms (rs11030101, rs6265, rs16917204) in the BDNF gene. RESULTS: In the case-control analysis, the AA genotype of the BDNF rs11030101 polymorphism was significantly associated with ADHD only in girls (p=0.024, odds ratio=3.00). The T-G-G haplotype was significantly less frequent (p=0.005) and A-G-G was more frequent (p=0.048) in girls with ADHD than in control girls (global p=0.027). A multivariate analysis of variance for commission errors on the CPT showed a significant main effect for the rs11030101 genotype (p=0.026) and an interaction effect of the rs11030101 genotype and gender (p=0.032) in ADHD probands. CONCLUSION: These results provide preliminary evidence for a gender-specific association between BDNF and ADHD in the Korean population.