• Title/Summary/Keyword: autism-spectrum

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Diagnostic distal 16p11.2 deletion in a preterm infant with facial dysmorphism

  • Hyun, Ju Kyung;Jung, Yu Jin
    • Journal of Genetic Medicine
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    • v.15 no.2
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    • pp.115-119
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    • 2018
  • The 16p11.2 microdeletion has been reported in patients with developmental delays and intellectual disability. The distal 220- kb deletion in 16p11.2 is associated with developmental delay, autism spectrum disorder, epilepsy, and obesity at a young age. We have reported a case of distal 16p11.2 deletion syndrome in a preterm infant with unusual facial morphology and congenital heart disease. We suggest using chromosome microarray analysis to detect chromosomal abnormalities in newborns, especially preterm infants with unusual morphologies.

Clinical Applications of Functional Near-Infrared Spectroscopy in Children and Adolescents with Psychiatric Disorders

  • Lee, Yeon Jung;Kim, Minjae;Kim, Ji-Sun;Lee, Yun Sung;Shin, Jeong Eun
    • Journal of the Korean Academy of Child and Adolescent Psychiatry
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    • v.32 no.3
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    • pp.99-103
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    • 2021
  • The purpose of this review is to examine the clinical use of functional near-infrared spectroscopy (fNIRS) in children and adolescents with psychiatric disorders. Many studies have been conducted using objective evaluation tools for psychiatric evaluation, such as predicting psychiatric symptoms and treatment responses. Compared to other tools, fNIRS has the advantage of being a noninvasive, inexpensive, and portable method and can be used with patients in the awake state. This study mainly focused on its use in patients with attention-deficit/hyperactivity disorder and autism spectrum disorder. We hope that research involving fNIRS will be actively conducted in various diseases in the future.

How Must We Prepare in the Next Decades When Caring for Those With Developmental Disabilities: "Grown Up" (2018)

  • Hwang, Jun-Won
    • Journal of the Korean Academy of Child and Adolescent Psychiatry
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    • v.33 no.2
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    • pp.55-56
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    • 2022
  • The Guarantee of Rights and Support for Persons with Developmental Disabilities Act was enacted and revised in 2014. However, national measures for persons with developmental disabilities remain insufficient. In the film, "Grown Up," director Hyeyoung Jang filmed the daily life of her sister, who has developmental disabilities. She raised not only the issue of institutionalization in people with developmental disabilities in Korea but also the issue of a lack of policies that would be essential to them and their family members. In the future, I hope that as experts, child and adolescent psychiatrists in Korea will pay more attention to the lives of people with developmental disabilities outside the clinic and propose policies to help them and their family members.

Comparison of random forest classification performance of autism spectrum disorders according to different component ratios of the functional connectivity matrix and principal component vectors using neuroimaging (뇌기능영상기반 기능적 연결성 행렬의 서로 다른 성분 비율과 주성분 벡터에 따른 자폐 스펙트럼 장애의 랜덤 포레스트 분류성능 비교)

  • Choi, Hyoungshin;Park, Hyunjin
    • Proceedings of the Korea Information Processing Society Conference
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    • 2021.05a
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    • pp.351-353
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    • 2021
  • 자폐 스펙트럼 장애는 이질적인 신경 발달 장애로, 뇌기능영상에 기반한 기능적 연결성 행렬을 이용해 연구가 활발하게 진행된다. 기능적 연결성 행렬을 분석하기 위해 주성분 분석방법을 이용하며, 이를 통해 뇌의 기능적 경향성 패턴을 확인할 수 있다. 이 때, 서로 다른 연결성 성분 비율과 주성분 벡터를 이용해서 다양한 기능적 경향성 패턴을 얻을 수 있다. 패턴에 따른 랜덤 포레스트 분류 모델의 성능이 달라지는데 이를 비교해본 결과, 상위 50%의 성분을 이용하여 만든 기능적 경향성 패턴 1 이 데이터의 설명 비율도 높고, 우수한 분류 성능을 보이는 것을 확인했다.

Septo-optic dysplasia associated with chromosome 15q13.3 duplication: a case report

  • Jeong A Ham;Sung Hyun Kim;Donghwi Park
    • Journal of Yeungnam Medical Science
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    • v.40 no.4
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    • pp.419-422
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    • 2023
  • Septo-optic dysplasia (SOD) is a rare congenital anomaly that is clinically defined by developmental delay and characteristic brain magnetic resonance imaging findings, including optic nerve hypoplasia, pituitary hormone abnormalities, and midline brain defects. The occurrence of SOD is generally sporadic; however, it can be inherited rarely. Although an association with HESX1, SOX2, and SOX3 mutations has been identified, the detailed etiology is multifactorial and unclear. Here, we present the case of a 7-year-old girl who was clinically diagnosed with SOD and 15q13.3 duplication. Patients with duplication at chromosome 15q13.3 were reported to be diagnosed with autism spectrum disorder, epilepsy, and schizophrenia in previous studies. The relationship between SOD and the microduplication of 15q13.3 has not yet been explored. In this study, we suggest that there may be an association between chromosome 15q13.3 microduplication and SOD.

A Study on Recognition Degree of horse therapy for Autistic Disorder's parents (승마재활 치료에 대한 자폐성 장애 아동 부모의 인식도 조사)

  • Rhee, G.M.;Kim, S.Y.;Kwon, S.N.
    • Journal of rehabilitation welfare engineering & assistive technology
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    • v.6 no.1
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    • pp.75-81
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    • 2012
  • This study in the treatment of autistic horse therapy of children with disabilities that affect the perception of parents is to some extent how well treatment for a sense of purpose and a horse therapy was to evaluate the expectations. As parents of autistic children with disabilities a questionnaire study of 100 people was used as a research tool. Analysis of the frequency analysis method, Chi-square Analysis were analyzed by taking advantage of each. Parents interested in horse therapy and children who do not have the experience of riding. In addition, Parents who have children age 10-20 riding in the response was that there would be effects Understanding mainly ride horses in the horse therapy is physical exercise. And therapy and exercise that combines specific area of expertise, as is the way to help. In addition, behavior modification, and it is used as a way to improve. Expectations in the therapeutic horse therapy should be major(occupational therapy, physical therapy, speech therapy). Horse therapy is suitable for individual therapy at least for 2-3 weeks and the Confederacy.

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Descriptive Psychiatry and the Development of Diagnostic Criteria in the History of Child Psychiatry and Phenomenological Descriptive Psychiatry (소아정신의학 역사 속의 진단기준 발전과 현상학적 기술정신의학)

  • Bahn, Geon Ho;Lee, Yeon Jung;Han, Ju Hee
    • Journal of the Korean Academy of Child and Adolescent Psychiatry
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    • v.26 no.1
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    • pp.1-11
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    • 2015
  • Phenomenology has been developed by philosophers like Kant and Husserl since the late 18th century. Jaspers, a German psychiatrist, adopted it into psychopathology studies and accumulated data by closely observing and recording the patients' symptoms and signs. Among descriptions done even before the psychopathology or diagnostic criteria of disorders in the field of child psychiatry was established, we can find exact and valuable descriptions matching the autism spectrum disorder or attention deficit/hyperactivity disorder. The diagnostic criteria of modern childhood psychiatric disorders were established based on these grounds. Phenomenological/descriptive methods in various psychiatric fields lead to medical study methods for social phenomenon such as oiettolie, hikikomori, and internet game addiction. Since Romanian orphans were adopted to the western world, descriptive studies along with neurobiological studies on the influence of stimulus deprivation on emotional and physical development are being conducted. While phenomenology, which was adopted by Jaspers to verify psychopathology, was developed mainly by observation and description, recent studies are explaining such descriptive phenomena even at the synapse level due to advances in neurobiology. Although phenomenological/descriptive psychiatry, describing precise and detailed experiences of patients, is less applied nowadays among modern study methods, we must remember that such descriptions may lead to biological studies and provide evidence to improve the accuracy of choosing and applying treatment methods.

A Validation Study of the Korean Version of Social Communication Questionnaire (한국어판 사회적 의사소통 설문지 타당화 연구)

  • Kim, Joo-Hyun;Sunwoo, Hyun-Jung;Park, Su-Bin;Noh, Dong-Hyun;Jung, Yeon Kyung;Cho, In-Hee;Cho, Soo-Churl;Kim, Bung-Nyun;Shin, Min-Sup;Kim, Jae-Won;Park, Tae-Won;Son, Jung-Woo;Chung, Un-Sun;Yoo, Hee Jeong
    • Journal of the Korean Academy of Child and Adolescent Psychiatry
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    • v.26 no.3
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    • pp.197-208
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    • 2015
  • Objectives : The purposes of this study were to examine the reliability and validity of the Korean version of Social Communication Questionnaire (K-SCQ) and to determine cut-off scores for diagnosis of autism spectrum disorder (ASD). Methods : A total of 166 subjects with ASD and their 186 unaffected siblings were recruited through child psychiatry clinics of university hospitals. Board certified child psychiatrists screened all probands suspected to have ASD based on the Diagnostic and Statistical Manual of Mental Disorders, fourth edition. To confirm the diagnoses, the Korean versions of the Autism Diagnostic Observation Schedule and the Autism Diagnostic Interview-Revised (K-ADI-R) were administered to all the subjects. All parents completed the K-SCQ and Social Responsiveness Scale (SRS). The non-ASD siblings were evaluated with the same instruments as the probands with ASD. We performed a factor analysis to examine the structure of K-SCQ. For testing the validity of K-SCQ, we compared the difference in Lifetime and Current scores of probands with ASD and their non-ASD siblings using t-test and analysis of covariance. Correlations between the K-SCQ and other measurements of ASD symptomatology, including K-ADI-R totals and domain scores and SRS, were examined. Receiver operation characteristic curve analysis was performed to extract cutoff scores discriminating affection status. Results : Four factors were extracted through factor analysis of K-SCQ ; 1) social relation and play, 2) stereotyped behavior, 3) social behavior, and 4) abnormal language. Cronbach's internal consistency was .95 in K-SCQ Lifetime, and .93 in K-SCQ Current. There were significant differences in total score of K-SCQ, both in Lifetime and Current between the ASD group and non-ASD siblings group (p<.05). K-SCQ scores were significantly correlated with K-ADI-R subdomain scores and SRS total scores (p<.05). The best-estimate cut-off scores of K-SCQ for diagnosis of ASD were 12 for 48 months and over, and 10 for below 47 months. Conclusion : Our findings suggest that the K-SCQ is a reliable and valid instrument for screening autistic symptoms in the Korean population. Lower cut-off scores than the original English version might be considered when using it as a screening instrument of ASD.

A Research for Methodology of Culture Semiotics for Smart Healing Contents (스마트 힐링콘텐츠의 문화기호학적 방법론 연구)

  • Baik, Seung-Kuk;Yoon, En-Ho
    • Journal of Information Technology and Architecture
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    • v.11 no.3
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    • pp.347-357
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    • 2014
  • This research aims to suggest the possibility of functional culture contents based on interdisciplinary methodologies, especially for people who have Autism Spectrum Conditions, or those who have disabilities on express and receive gamsung (emotions). Recently, the development of application technologies in smartphones and tablet computers needs of functional culture contents, which are connected with the gamsung system. Moreover, the potential of marketplace of functional culture contents is emerging, as can be seen from the success of Augmentative and Alternative Communications (AAC) applications. Therefore, with the development of more applications that prevent and resolve Gamsung Disabilities anticipatively, there will be a positive economic effect of reducing back on intervention expenses as well as the construction of new contents ecosystem. So, in this research, we will attempt to make an approach of using the cultural semiotics methodology in finding attributes and features of applications that help to keep mental stability and balance for people with gamsung Disabilities. Particularly, this research will suggest an interdisciplinary theory on healing contents making methodology, using contents analysis; user interface (UI) analysis; and user experience (UX) analysis on existing smart healing applications.

Validation Study of Behavior Problems Inventory-01 among Korean Children and Adolescents (한국판 문제행동 평가도구(Behavior Problems Inventory-01) 표준화 연구)

  • Choi, Miji;Kim, Yeni;Ban, Ji-Jeong;Hwang, Samuel Suk-Hyun;Kim, Bung-Nyun;Yang, Young-Hui
    • Journal of the Korean Academy of Child and Adolescent Psychiatry
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    • v.28 no.4
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    • pp.220-227
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    • 2017
  • Objectives: The purpose of this study was to examine the reliability and validity of the Korean version of the Behavior Problems Inventory (BPI-01) among children and adolescents aged between 3 and 18. Methods: The control group consisting of one hundred children and adolescents was recruited from schools and the patient group consisting of forty one children and adolescents with autism spectrum disorder were recruited from a hospital. We compared the measurements of both groups. To assess the concurrent validity of the BPI-01, we compared the problem behavior index of the Korean Scale of Independent Behavior-Revised (K-SIB-R) and, to assess the discriminant validity, we compared the Korean version of the Child Behavior Checklist (K-CBCL). The Cronbach's alpha of the BPI-01 was measured to assess its reliability. Correlation analyses between the BPI-01 and the other scale were carried out to examine the former's concurrent and discriminant validity. Results: The patient group showed a significantly higher score for all three subscales of the BPI than the control group. The Cronbach's alpha was 0.92 for the total severity score of the BPI and ranged between 0.67-0.89 for each subscale in the patient group. All subscales of the BPI-01's, i.e., self injurious behavior, stereotyped behavior and aggressive/destructive behavior, were significantly correlated with the corresponding subscales of the K-SIB-R. The BPI-01 generally did not demonstrate any significant correlation with emotional items such as anxiety/depression in the K-CBCL. Especially, the BPI-01's stereotyped behavior subscale showed little correlation with externalizing behaviors such as social problems and aggressive behaviors. Conclusion: This study found that the Korean version of BPI-01 is a reliable and valid behavior rating instrument for problem behavior in developmental disabilities among children and adolescents.