• 제목/요약/키워드: autism-spectrum

검색결과 252건 처리시간 0.025초

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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    • 제15권2호
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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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    • 제32권3호
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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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    • 제33권2호
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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.

뇌기능영상기반 기능적 연결성 행렬의 서로 다른 성분 비율과 주성분 벡터에 따른 자폐 스펙트럼 장애의 랜덤 포레스트 분류성능 비교 (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)

  • 최형신;박현진
    • 한국정보처리학회:학술대회논문집
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    • 한국정보처리학회 2021년도 춘계학술발표대회
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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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    • 제40권4호
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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.

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

  • 이근민;김소영;권상남
    • 재활복지공학회논문지
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    • 제6권1호
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    • pp.75-81
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    • 2012
  • 본 연구는 자폐성 장애 아동의 승마재활 치료에 가장 영향을 미치는 학부모의 인식은 어느 정도이며 치료효과에 대한 목적의식은 어떠한지 또한 앞으로 재활승마 치료에 대해 가지는 기대에 대해 알아보고자 하였다. 자폐성 장애 아동의 부모로 100명을 연구대상으로 설문지를 연구도구로 사용하였다. 분석방법은 빈도분석(Frequency Analysis), 교차분석Chi-square Analysis)을 활용하여 각각 분석하였다. 재활승마 치료에 대한 학부모의 인지도에서 재활승마에 대한 인식이 있고, 아동이 재활승마의 경험이 없으며, 6세~10세 학부모의 응답에서 재활승마가 효과가 있을 것이라고 응답하였다. 이해도에서 재활승마는 주로 말을 타는 신체운동이고, 치료와 운동을 겸비한 전문영역으로 구체적인 도움을 주는 방법이라고 하였으며, 재활승마는 바람직하지 못한 행동을 교정 및 개선하는 방법으로 이용되고 재활기관에서 재활승마가 필요한 것으로 이해하고 있었다. 기대도에서 재활승마 치료사가 갖추어야 할 가장 중요한 요소는 치료학(작업치료, 물리치료, 언어치료) 전공자여야 한다고 나왔고, 재활승마는 개별치료, 주 2~3회가 적당하다고 하였다.

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

  • 반건호;이연정;한주희
    • Journal of the Korean Academy of Child and Adolescent Psychiatry
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    • 제26권1호
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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.

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

  • 김주현;선우현정;박수빈;노동현;정연경;조인희;조수철;김붕년;신민섭;김재원;박태원;손정우;정운선;유희정
    • Journal of the Korean Academy of Child and Adolescent Psychiatry
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    • 제26권3호
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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.

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

  • 백승국;윤은호
    • 정보화연구
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    • 제11권3호
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    • pp.347-357
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    • 2014
  • 본 논문은 문화콘텐츠에 감성적 심리학적 접근방법론을 적용하여 콘텐츠 유저의 감성에 긍정적인 효과를 유발하는 기능성 문화콘텐츠의 학제적 연구의 가능성을 탐색하기 위해, 감성 수용과 표출에 문제가 있는 일반인이나 자폐 스펙트럼 장애인 등을 대상으로 한 기능성 문화콘텐츠의 학제적 접근에 대한 가능성을 제안하고자 한다. 최근 스마트폰과 태블릿 컴퓨터 어플리케이션 기술의 발전은 감성과 연관된 기능성 문화콘텐츠를 필요로 하고 있으며, 학제적 관점에서의 기능성 문화콘텐츠의 개발시장의 잠재성이 보조 대안적 커뮤니케이션(AAC) 어플리케이션의 성공으로 드러나고 있다. 따라서 감성장애를 선제적으로 예방하고 해소하는 어플리케이션이 개발될 경우, 감성장애인의 중재 비용이 상당히 감소되는 경제적 효과와 콘텐츠의 새로운 생태계를 조성하는 순기능이 발생할 것으로 예상된다. 따라서 본 논문에서는 감성장애자들에게 심리적 안정과 균형감을 유지하게 만드는 어플리케이션의 속성과 특징에 대한 문화기호학적 접근을 시도하고자 한다. 즉 문화기호학적 차원에서 기존 스마트 힐링 어플리케이션의 내용 분석과 유저 인터페이스(UI) 그리고 유저 경험(UX)에 대한 분석과 평가를 시도하여 감성기반의 힐링콘텐츠 구축 방법론에 대한 학제적 이론을 제시하고자 한다.

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

  • 최미지;김예니;반지정;황석현;김붕년;양영희
    • Journal of the Korean Academy of Child and Adolescent Psychiatry
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    • 제28권4호
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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.