• 재활복지공학회논문지
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• 제9권4호
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• pp.265-273
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• 2015

자폐스펙트럼장애 아동은 시각적 처리, 체계화와 같은 강점을 지니며, 사물 및 기계에 대한 흥미와 관심을 나타낸다. 이 같은 맥락에서 로봇이 자폐스펙트럼장애 아동의 재활에 유용한 것으로 제안되고 있다. 즉 로봇은 자폐스펙트럼장애 아동의 관심을 유발하고, 주의를 집중하게 하고, 단순화된 사회적 자극을 제시하며, 반복적용이 가능하고, 대상에 따른 프로그래밍이 가능하다. 이에 본 연구에서는 자폐스펙트럼장애 아동의 재활을 위한 국내 로봇 관련 연구를 살펴보고자 하였다. 이를 위해 자폐, 로봇을 키워드로 검색하여 11편의 국내 문헌을 최종 선정하고, 활용 로봇, 로봇 제시자극, 실험절차 및 종속변인에 따라 문헌을 내용 분석하였다.

• BMB Reports
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• 제49권9호
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• pp.457-458
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• 2016

Recent studies have strongly implicated postsynaptic scaffolding proteins such as SAPAP3 or Shank3 in the pathogenesis of various mood disorders, including autism spectrum disorder, bipolar disorder (BD), and obsessive-compulsive disorders. Neural Abelson-related gene-binding protein 2 (nArgBP2) was originally identified as a protein that interacts with SAPAP3 and Shank3. Recent study shows that the genetic deletion of nArgBP2 in mice leads to manic/bipolar-like behavior resembling symptoms of BD. However, the function of nArgBP2 at synapse, or its connection with the synaptic dysfunctions, is completely unknown. This study provides compelling evidence that nArgBP2 regulates the spine morphogenesis through the activation of Rac1/WAVE/PAK/cofilin pathway, and that its ablation causes a robust and selective inhibition of excitatory synapse formation, by controlling actin dynamics. Our results revealed the underlying mechanism for the synaptic dysfunction caused by nArgBP2 downregulation that associates with analogous human BD. Moreover, since nArgBP2 interacts with key proteins involved in various neuropsychiatric disorders, our finding implies that nArgBP2 could function as a hub linking various etiological factors of different mood disorders.

• 한국정보전자통신기술학회논문지
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• 제8권6호
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• pp.478-482
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• 2015

치료적 효과에 대한 선행연구의 분석 결과로 게임놀이치료가 ADHD, 틱장애, 의사소통 발달 장애, 자폐성 등과 같은 장애를 가진 아동의 주의집중력, 과잉행동 및 틱증상 감소, 언어적 의사소통 증가, 부적절한 사회적 행동 감소 등과 같은 사회 정서 발달에 효과적인 것으로 보고되었다. 본 연구는 아날로그와 디지털을 병합한 디지로그 방식의 놀이치료 컨텐츠를 개발하고자 한다. 이는 일반인을 비롯하여 치매노인, 지적장애인등의 치료에도 효과적인 방법이라 판단이 된다. 또한 아날로그 놀이와 디지털적 요소들을 융합하여 유아 스마트폰 중독이 초래하는 문제점을 방지하기 위한 디지로그적 관점의 새로운 놀이 시스템을 개발하고자 한다.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• 제26권3호
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• pp.209-216
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• 2015

Objectives : The purpose of this study was to investigate the effectiveness of a day-hospital treatment program designed to help development of children with pervasive developmental disorder (PDD) and mental retardation (MR). Methods : Retrospective review of the charts of 32 children (28 with PDD, 4 with MR), who participated in a day-hospital treatment program of Seoul Metropolitan Eunpyeong Hospital, from October 2008 to February 2012, was conducted. Development level of each patient was evaluated according to the Psycho-Educational Profile-Revised (PEP-R), Social Maturity Scale (SMS), and Childhood Autism Rating Scale (CARS). Evaluation was done at two points, before participation and after 1 year participation. Results : Children who participated in the day-hospital treatment program showed significant improvement in all categories of PEP-R, SMS, and CARS. Conclusion : Day-hospital treatment program is effective for helping development of children with PDD and MR.

• Journal of Genetic Medicine
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• 제19권2호
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• pp.111-114
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• 2022

Many monogenic neurodevelopmental disorders have been newly identified in recent years owing to the rapid development of genetic sequencing technology. These include variants of the epigenetic machinery - up to 300 known epigenetic factors of which about 50 have been linked to specific clinical phenotypes. Chromodomain, helicase, DNA binding 1 (CHD1) is an ATP-dependent chromatin remodeler, known to be the causative gene of the autosomal dominant neurodevelopmental disorder Pilarowski-Bjornsson syndrome. Patients exhibit various degrees of global developmental delay, autism, speech apraxia, seizures, growth retardation, and craniofacial dysmorphism. We report the first case of Pilarowski-Bjornsson syndrome in Korea, due to a de novo missense variant of the CHD1 gene (c.862A>G, p.Thr288Ala) in a previously undiagnosed 17-year-old male. His infantile onset of severe global developmental delay, intellectual disability, speech apraxia, and failure to thrive are compatible with Pilarowski-Bjornsson syndrome. We also noted some features not previously reported in this syndrome such as skeletal dysplasia and ichthyosis. Further studies are needed to discover the specific phenotypes and pathogenic mechanisms behind this rare disorder.

• Molecules and Cells
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• 제39권10호
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• pp.750-755
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• 2016

Although innate color preference of motile organisms may provide clues to behavioral biases, it has remained a longstanding question. In this study, we investigated innate color preference of zebrafish larvae. A cross maze with different color sleeves around each arm was used for the color preference test (R; red, G; green, B; blue, Y; yellow). The findings showed that 5 dpf zebrafish larvae preferred blue over other colors (B > R > G > Y). To study innate color recognition further, tyrosinase mutants were generated using CRISPR/Cas9 system. As a model for oculocutaneous albinism (OCA) and color vision impairment, tyrosinase mutants demonstrated diminished color sensation, indicated mainly by hypopigmentation of the retinal pigment epithelium (RPE). Due to its relative simplicity and ease, color preference screening using zebrafish larvae is suitable for high-throughput screening applications. This system may potentially be applied to the analysis of drug effects on larval behavior or the detection of sensory deficits in neurological disorder models, such as autism-related disorders, using mutant larvae generated by the CRISPR/Cas9 technique.

• 대한장애인치과학회지
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• 제7권1호
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• pp.25-28
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• 2011

자폐증을 진단 받은 16세 남환이 하악 좌측 부위의 낭종 및 매복치를 주소로 내원하였다. 해당낭종은 함치성 낭종으 로 최종 진단 되었으며 일일 입원 및 전신 마취 하에 낭종의 적출 및 매복치의 발거와 자가 이식을 시행 후 치근단 형성 술 진행하였다. 2년 6개월 경과 관찰한 현재 주소 증상은 사라지고 재발 성향은 없으나, 치근단 염증 소견 및 발거 부 위 공간 소실 등의 합병증이 관찰된다. 저자는 본 증례를 통 해 다음과 같은 지견을 얻었다. 1. 함치성 낭종의 치료는 일반적으로 골 결손이 적고 매복치의 자발적 맹출을 유도할 수 있는 조대술이 추천된다. 2. 매복치의 자발적 맹출 가능성은 매복 깊이, 치축 각도, 환자의 나이, 치근 성숙도 등을 주의 깊게 고려하여 판단해야 한다. 3. 본 증례의 경우 매복치의 자발적 맹출 가능성이 낮으며 자폐증으로 인한 구강위생 불량, 저조한 협조도 등 을 고려하여 적출술을 시행하였다. 4. 치료 계획 설정 시 일반적 요인뿐만 아니라 환자의 의과 적, 전신적 병력에 따른 특별한 요구도 고려해야 한다.

• Molecules and Cells
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• 제40권2호
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• pp.151-161
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• 2017

Proper synaptic function in neural circuits requires precise pairings between correct pre- and post-synaptic partners. Errors in this process may underlie development of neuropsychiatric disorders, such as autism spectrum disorder (ASD). Development of ASD can be influenced by genetic factors, including copy number variations (CNVs). In this study, we focused on a CNV occurring at the 16p11.2 locus in the human genome and investigated potential defects in synaptic connectivity caused by reduced activities of genes located in this region at Drosophila larval neuromuscular junctions, a well-established model synapse with stereotypic synaptic structures. A mutation of rolled, a Drosophila homolog of human mitogen-activated protein kinase 3 (MAPK3) at the 16p11.2 locus, caused ectopic innervation of axonal branches and their abnormal defasciculation. The specificity of these phenotypes was confirmed by expression of wild-type rolled in the mutant background. Albeit to a lesser extent, we also observed ectopic innervation patterns in mutants defective in Cdk2, Gq, and Gp93, all of which were expected to interact with Rolled MAPK3. A further genetic analysis in double heterozygous combinations revealed a synergistic interaction between rolled and Gp93. In addition, results from RT-qPCR analyses indicated consistently reduced rolled mRNA levels in Cdk2, Gq, and Gp93 mutants. Taken together, these data suggest a central role of MAPK3 in regulating the precise targeting of presynaptic axons to proper postsynaptic targets, a critical step that may be altered significantly in ASD.

• 감성과학
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• 제21권4호
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• pp.77-90
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• 2018

자폐 스펙트럼 장애를 가진 대상(이하 ASD)의 정서 인식 능력에 대한 행동 연구의 결과는 혼재되어 있고, 대부분 단일 감각 양식의 정서 인식 능력에 대한 검증에 치중되어 있다. 따라서 ASD가 실제로 정서 인식 결함을 가지고 있는지에 대한 통합적 이해는 아직 이루어지지 않은 실정이다. 따라서 본 연구는 다중 감각 양식 정서 자극에 대한 따른 ASD 환자의 정서 인식 능력에 초점을 맞추고, ASD의 정서 인식 능력에 대한 혼재된 결과를 설명하기 위하여 최신 행동연구와 인지신경과학 연구들을 개관하였다. 그 결과, 정서 인식 과제에서 행동적 결함을 보이지 않았던 ASD 일지라도, 뇌 영상 결과에서는 정서 정보 통합 기능에서 결함이 발견되었다. 따라서 본 개관 연구에서는, 최근에 제안된 ASD의 다중 감각 양식에 따른 정서 인식 능력의 결함, ASD의 정서 정보 통합 기능 결함, 그리고 실생활에서 정서 인식의 어려움에 대한 가능성과 선행 연구들의 제한점에 대해 논의하였다. 또한, ASD가 정서 정보를 통합하는 과정에서 활용하는 보상 기제를 살펴보고, ASD의 정서 기능 결함과 관련된 치료적 접근 방향과 후속 연구에 대해 제언하였다.

• 대한장애인치과학회지
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• 제11권2호
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• pp.58-61
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• 2015

The people with disabilities living in residential facilities have more difficulty in caring oral hygiene than those living at home. The purpose of this study is to evaluate the recent 2014 dental treatment records of free mobile dental clinic service for disabled people in Korea. 203 disabled living in residential facilities participated in mobile dental clinic. Patients classified according to types of disability. Mental retardation were 75.3%, mental disorder were 6.0%, crippled disorder were 7.4%, brain disorder were 6.5%, visual disorder were1.4%, auditory and speech disorder were 2.3% and autism disorder were 0.9%. Performed treatments were 99 scaling and curettage, 88 fluoride varnish and TBI, 4 extraction, 1 endodontic treatment, 16 caries control (resin filling, GI filling), 1 denture repair and 8 refuse the treatment. Free mobile dental clinic can not provide complex dental treatment. So, the organization should systemize advanced dental treatment and regular preventive programs. Furthermore, we need to have a more concerns about the people with disabilities living in residential facilities and constantly participate on a dental voluntary work.