• Title/Summary/Keyword: Language disability

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A case with GRIN2A mutation and its non-neurological manifestations

  • Lee, Soo Yeon;Jung, So Yoon;Lee, Jeongho
    • Journal of Genetic Medicine
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    • 제17권2호
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    • pp.79-82
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    • 2020
  • In epilepsy-aphasia spectrum (EAS) disorders, mutations in the glutamate receptor ionotropic N-methyl-D-aspartate type subunit 2A (GRIN2A) have become important for screening the disease. Research into the phenotypic variability of several types of neurologic impairment involving these mutations is in progress. However, the non-neurological problems related to these mutations are poorly understood. EAS disorders usually have epileptic, cognitive, or behavioral manifestations. In this case report, we present a female patient with epilepsy, delay in expressive language and social development, and intellectual disability with low intelligence quotient and memory quotient, but normal motor development. Through genetic analysis, she was found to have a missense and a nonsense mutation in GRIN2A (c.1770A>C; p.Lys509Asn and c.3187G>T; p.Glu1063∗, respectively) and we consider the nonsense mutation as 'pathogenic variant'. She was also discovered to have congenital hypothyroidism, growth hormone deficiency and Rathke's cleft cyst in the brain, which were previously unknown features of GRIN2A mutation. Our findings should widen understanding of the spectrum of GRIN2A phenotypes, and emphasize the need for more research into the association between GRIN2A mutations and non-neurologic clinical presentations.

Interaction Contents for Reconsidering Visually Disabled Parents

  • Hong, Joo-Bong;Lee, Chan-Kyu;Lim, Chan
    • International journal of advanced smart convergence
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    • 제9권1호
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    • pp.54-62
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    • 2020
  • According to the Ministry of Health and Welfare, "Status of Registered Persons with Disabilities", the number of people with disabilities is 2,494,460 as of 2015. The lowest rates of children with disabilities were intellectual disabilities (23%) and mental disorders (33.3%). The highest rates of screening were blindness (97%), heart failure (94.4%), and hearing impairment (92.7%). 65.2% of visually impaired people who have already had a disability at the time of marriage, and the remaining 34.8% can be thought to be the cause of high incidence of disability after marriage. 'SID (Seed in the Dark)' project was designed to recapture the visually impaired parent's desire for attachment and the space difficulties of the blind who want to be a normal parent to their children through a visual impairment of a father with 7-year-old daughter. Using Gear VR(Virtual Reality), the general public was able to feel the surroundings as if they had no vision and focused on the hearing. Especially, We expressed the sound wave visually and added the hilarious game element which grasps the terrain of the maze by sound wave like a 'blind person who perceives the surroundings by sound' and catches up with daughter. People with disabilities who are far from mental illness often have a form of family with children. The fact that the rate of childbirth is high means that there is relatively little problem in daily life. It is wondered that the rate of blindness among the visually impaired, which accounts for 10% of the total disabled, is the highest at 97%. This is because, in the case of the visually impaired, the obstacle is often caused by aging, accidents, or diseases due to inherited causes rather than the visual disorder. In particular, However, the fact that there is an obstacle in vision that accounts for 83% of the body's sensory organs causes other difficulties in the nursing process of children who are non-disabled. Parents do not know the face of child when their visual impairment is severe. Parents are extremely anxious about worry that they will be lost or abducted if their children are not by their side. And that the child recognizes the disability of his or her parents other than the other parents easily and takes it as a deficiency. Since visually impaired parents are mentally mature parents with non-disabled people, they may want their children not to feel deprived of their disability. The number of people with visual impairments has been increasing since 2001, and people with impairments often become disabled. In addition, there is much research on the problem of nondisabled parents who have children with disabilities, while there is relatively little interest and research on the problem of nondisabled child rearing of parents with disabilities.

심한 소음환경에서 언어장애인 음성 인식률 향상을 위한 단어선정 방법 및 장치 개선에 관한 연구 (A Study on Word Selection Method and Device Improvement for Improving Speech Recognition Rate of Speech-Language-impaired in Severe Noise Environment)

  • 양기웅;이형근
    • 한국정보통신학회논문지
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    • 제23권5호
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    • pp.555-567
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    • 2019
  • 언어장애인, 언어 사용이 불편한 분들의 경우 조금의 잡음 환경에도 음성인식률이 저하되어 사회 생활시 어려움을 겪게 된다. 언어 사용 시 불편함을 장치로 개선시킴과 동시에, 언어 장애인의 발음 특성을 고려하여 단어 선정 시 자체 개선한 단어 선정 방법을 사용하여 280개 단어를 선정하였다. 실험에 사용된 MEMS 개발 장치는 재질, 유도선 종류, 길이, 방향을 고려하여 제작되었으며 잘못된 발음으로 인한 음성과 심한 소음에서 음성 인식률 향상을 위하여 개발된 MEMS 장치와 개발된 단어 선정 방법을 사용하여 개선시켰다. 개선 방법으론 새로운 단어 선정 방법과 mems 장치를 개선하여 진행하였으며 결과를 포함하였다.

자연어 알고리즘을 활용한 한국표준건강분류(KCF) 코드 검색 (Korean Standard Classification of Functioning, Disability and Health (KCF) Code Linking on Natural Language with Extract Algorithm )

  • 최년식;송주민
    • 대한물리의학회지
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    • 제18권1호
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    • pp.77-86
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    • 2023
  • PURPOSE: This study developed an experimental algorithm, which is similar or identical to semantic linking for KCF codes, even if it converted existing semantic code linking methods to morphological code extraction methods. The purpose of this study was to verify the applicability of the system. METHODS: An experimental algorithm was developed as a morphological extraction method using code-specific words in the KCF code descriptions. The algorithm was designed in five stages that extracted KCF code using natural language paragraphs. For verification, 80 clinical natural language experimental cases were defined. Data acquisition for the study was conducted with the deliberation and approval of the bioethics committee of the relevant institution. Each case was linked by experts and was extracted through the System. The linking accuracy index model was used to compare the KCF code linking by experts with those extracted from the system. RESULTS: The accuracy was checked using the linking accuracy index model for each case. The analysis was divided into five sections using the accuracy range. The section with less than 25% was compared; the first experimental accuracy was 61.24%. In the second, the accuracy was 42.50%. The accuracy was improved to 30.59% in the section by only a weight adjustment. The accuracy can be improved by adjusting several independent variables applied to the system. CONCLUSION: This paper suggested and verified a way to easily extract and utilize KCF codes even if they are not experts. KCF requires the system for utilization, and additional study will be needed.

가족의 지지가 장애노인의 삶의 만족도에 미치는 영향 (The Effects of Family Support on the Life Satisfaction of Elderly with Disabilities)

  • 이익섭;윤경아
    • 한국사회복지학
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    • 제45권
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    • pp.315-340
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    • 2001
  • The purpose of study is to examine the effects of family support on the life satisfaction of elderly with disabilities and provide a ground necessary to improve it. Research was conducted on 167 elderly with hearing, visual and physical disabilities aged over 60 who were living in Seoul and Pusan. Telephone survey, sign language and interview, in accordance with types of disability, were adopted to collect data effectively. That is telephone survey was used for elderly with visual impairment whereas face-to-face interview for physical impairment and sign language for hearing impairment by volunteers. Collected data were analyzed, using hierarchical regression analysis. This study utilized two different models, direct effect model and buffering effect of social support in order to examine the effects of familial support on the life satisfaction of elderly with disabilities. Research findings suggest that the level of life satisfaction appeared to be low in general among elderly with disabilities and emotional family support exerted a positive effect on life satisfaction. In addition, it is empirically supported that emotional family support buffered the negative effect of economic limitations on life satisfaction. In other words, the effects of economic limitations as stress factor decreased with the increase in the frequency of emotional support, however, the level of life satisfaction decreased at a mercy of the stress factor of economic limitations with the decrease in the frequency of emotional support. Finally, this paper attempted to provide some alternatives to effectively improve life satisfaction among elderly with disabilities based on empirical findings.

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한국 곤충 국명 속에 나타난 혐오 표현과 일본어 잔재 (Hate Speech and Usage of Japanese in Korean Insect Common Name)

  • 강승호;김삼규
    • 한국응용곤충학회지
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    • 제60권2호
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    • pp.155-165
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    • 2021
  • 우리나라의 생물상 52,628종의 35.4%를 차지하는 곤충 18,638종의 국명 유형을 크게 11개(색깔, 크기, 모양, 식물, 위치, 생태, 외국어, 사람이름, 고유, 생리, 긍정·부정)범주로 구분하고, 그 뜻은 무엇인지를 조사하였다. 그 중 인종차별, 장애 및 생김새의 차별, 지역 차별 등의 혐오표현이 사용된 유형 506개에 대해 심층적으로 분석하여, 해당 표현의 본 뜻과 함께 향후 사용할 만한 대체 용어를 제시하였다. 더불어 일본어 표현(일본어, 일본인 이름, 일본 지명 등)이 사용된 유형 508개에 대해 분석하여, 세부 유형을 밝히고 해당 생물종의 국명의 사용이 적절하지 않다고 판단되는 경우에 대체 용어를 제시하였다.

William and Ellen Crafts' Eternal Running as Fugitive Performance: From Slavery to Freedom in Running a Thousand Miles for Freedom

  • Park, Jieun
    • 영어영문학
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    • 제64권1호
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    • pp.77-94
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    • 2018
  • This paper examines William and Ellen Craft's Running a Thousand Miles for Freedom (1860)-a narrative of the enslaved couple's escape from Macon to Philadelphia in the guise of a white male master and a colored slave. Expanding Judith Adler's notion of "travel as performed art," my reading of Running focuses on the Crafts' stratagems of transvestism-crossing boundaries not only of gender, but also of race, class, and disability. If travel can be understood as a form of performed art, then why not address a traveler as a performance artist? I present William and Ellen's role-playing in Running as performers of crossing borders and categories, or, as "fugitive performers," since the couple's story never reaches its final arrival but narrates an eternal run-away, far more than "a thousand miles to freedom." Using social stereotypes of race and gender to disguise, William and Ellen plot, write, choreograph, play, and recite on the moving stages and manipulate the others-especially white American audiences-who accompany the couple's run-away and those who were responsible for the cultural drama-a tragedy of American slavery. Becoming "fugitive performers," William and Ellen de-essentialize and debunk the nineteenth-century America's firm belief in distinct color line between black and white, and in the high yet unstable bars between male / female, abled / disabled, master / slave, and freedom / slavery. The Crafts alert their contemporaries and readers by presenting the complex and permeable boundaries of race, gender, class, social and cultural ability.

연산지능을 이용한 부진아 영역진단 지원 시스템 (Underachievers Realm Decision Support System using Computational Intelligence)

  • 임창균;김강철;류재흥;정중하
    • 한국지능시스템학회논문지
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    • 제16권1호
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    • pp.30-36
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    • 2006
  • 본 연구에서는 중학교 국어 교과과정에 있어서 부진아 학생을 위한 부진 영역을 진단을 지원할 수 있는 시스템을 제안하였다. 제안된 시스템을 학교 수업 현장에 적용함으로써 학습부진 학생들의 수준에 맞는 보충${\cdot}$심화학습이 이루어져 학습결손과 학습부진을 최소화하여 교수${\cdot}$학습의 목표를 알성하고 학업성취도를 향상시킬 수 있도록 하였다. 이 시스템에서의 입력은 36가지 변수가 제안된 코딩 기법을 이용하여 시스템을 위하여 학습데이터와 테스트데이터가 인코딩된다. 이 인코딩된 변수의 값들은 시스템의 입력 층의 값이 된다. 은닉 총의 뉴런 수는 학습 데이터를 이용하여 학습한 후 가장 좋은 성능을 보여주는 결과를 이용하여 결정하였다. 출력 층의 뉴런 수는 각 영역에 하나의 뉴런을 할당하여 4개의 뉴런을 사용하였다. 본 시스템을 개발하기 위해 다층 퍼셉트론 구조와 오류 역전파 알고리즘을 사용하였다. 영역진단 지원 시스템을 위해 학습 데이터로써 2,008개를 사용하였고, 테스트를 위하여 380개의 데이터를 사용하여 실험한 후 성능을 평가하였다.

정신지체아동과 일반아동의 부정하기 비교 (Comparison in Negation of the Children with Mental Retardation and Normal Children)

  • 정소영;김정미
    • 대한음성학회지:말소리
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    • 제56호
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    • pp.15-28
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    • 2005
  • In this study, children with MR were compared with normal children in overall production rate and production types of six semantic categories of negation. For this purpose, 10 children with MR and another 10 language-age matched normal children were selected. The results of this study were as the following: First, the children with MR showed significantly low overall production rate, compared with normal children. Two groups demonstrated signifiant differences in denial, disability, ignorance, prohibition and rejection except nonexistence. Second, in production type, the children with MR tended to use more gestures, and in comparison, normal children used more 'mixed types'.

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장애아동 전담보육시설 이용자의 보육서비스에 대한 요구와 만족도 - 경상북도를 중심으로 - (Caring Services in Specialized Facilities for Handicapped Children in Gyeongbuk Province : Users' Needs and Satisfaction)

  • 남상순;최외선
    • 아동학회지
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    • 제28권4호
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    • pp.209-227
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    • 2007
  • A structured questionnaire was distributed to families using some of the ten specialized caring facilities throughout Gyeongbuk Province. Of the 294 responses, 242 were usable. Results showed that (1) facilities were most used by families of children with autism (31.3%) and by families with severely handicapped children (96.3%). (2) Suggestions for improving facilities, included physical-, performance-, and language-therapies (60%) and teachers with expertise in special education (47.8%).(3) More than half of the respondents were satisfied with the degree of care. (4) Satisfaction with degree of caring services varied with academic background of mothers, mothers' job status, degree of child's disability, length of usage, average expenditure for hospital visits, and burden to the family.

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