• Journal of Genetic Medicine
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• 제16권2호
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• pp.49-54
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• 2019

Purpose: Potocki-Lupski syndrome (PTLS), is a recently identified, rare genomic disorder. The patients are affected by infantile hypotonia, poor growth and developmental delay. Facial dysmorphism may not be obvious in some patients. PTLS is associated with microduplication at chromosome 17p11.2. In the current study, three Korean patients are reported with their clinical and genetic features. Materials and Methods: The clinical findings of each patient were reviewed. Karyotyping and multiplex ligation-dependent probe amplification (MLPA) analyses were done for genetic diagnoses. Results: All the patients did not have the characteristic dysmorphic features, such as broad forehead, triangular face, asymmetric smile and palpebral fissures. On the other hand, all three patients were affected by variable degree of developmental delay, poor oral intake, failure to thrive, and language development disorders. Chromosome 17p11.2 duplication was identified by conventional karyotyping analysis only in one patient, whereas the other confirmed by MLPA analyses. Conclusion: Delayed development was mostly commonly observed in our patients without distinct dysmorphic facial features. In this respect, genomic screening in patients with developmental delay would identify more cases with PTLS to understand their long-term clinical courses with the development of adequate psychological and rehabilitation education program.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• 제34권4호
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• pp.258-267
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• 2023

Objectives: This study aimed to compare the utility of the Psychoeducational Profile-Revised (PEP-R), Korean Wechsler Preschool and Primary Scale of Intelligence, Fourth Edition (K-WPPSI-IV), and Vineland Adaptive Behavior Scale, Second Edition (VABS-II) for evaluating developmental disabilities (DD) in preschool children. Additionally, we examined the correlations between the PEP-R, K-WPPSI-IV, and VABS-II. Methods: A total of 164 children aged 37-84 months were assessed. Children's development was evaluated using the PEP-R, K-WPPSI-IV, VABS-II, Preschool Receptive-Expressive Language Scale, and Korean Childhood Autism Rating Scale, Second Edition. Results: Of the 164 children, 103 had typical development (TD) and 61 had DD. The mean of the PEP-R Developmental Quotient (DQ), K-WPPSI-IV Full-Scale Intelligence Quotient (FSIQ), and VABS-II Adaptive Behavior Composite (ABC) scores were significantly higher in the TD group than in the DD group (p<0.001). The estimated area under the curve of the PEP-R DQ, K-WPPSI-IV FSIQ, and VABS-II ABC scores was 0.953 (95% confidence interval [CI]=0.915-0.992), 0.955 (95% CI=0.914-0.996), and 0.961 (95% CI=0.932-0.991), respectively, which did not indicate a statistically significant difference. The PEP-R DQ scores were positively correlated with the K-WPPSI-IV FSIQ (r=0.90, p<0.001) and VABS-II ABC scores (r=0.84, p<0.001). A strong correlation was observed between the K-WPPSI-IV FSIQ and VABS-II ABC scores (r=0.89, p<0.001). Conclusion: This study found that the PEP-R, K-WPPSI-IV, and VABS-II effectively distinguished DD from TD in preschool children, and no significant differences in utility were observed between them.

• 대한감각통합치료학회지
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• 제2권1호
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• pp.33-42
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• 2004

Objective : To evaluate the sensory processing ability in relation to parenting stress and find the sensory modulation areas affecting the parenting stress in disabled children Methods : Parents of 124 children with disabilities between 3 to 7 years receiving occupational therapy in Seoul and Gyeonggi-do made out the questionnaire and in items of questionnaire, Short Sensory Profile and Parenting Stress Index of short form was included. Results : Among general information, parenting stress of parents had significant correlation with the degree of disability and correlation with the lower level 2 of Parenting Stress Index. The more sensory processing disability was increased, the more parenting stress was increased. Parenting stress showed the significant correlation with movement sensitivity area and under-responsiveness/behaivor area seeking specific stimulation among sensory processing areas and had significant correlation with tactile sensitivity and auditory filtering. Sensory processing areas which affect the most the Parenting Stress were movement sensitivity and under-responsiveness/behaivor area seeking the specific behavior among sensory control disabilities. Conclusion : The parenting stress of parents with the disabled children had the correlation with sensory processing ability. The difficulty of sensory processing increased the parenting stress. Hence, in order to improve children's sensory processing ability, the appropriately coping program should be developed and the appropriate intervention for improvement of sensory processing ability of children will be necessary.

• 한국컴퓨터정보학회논문지
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• 제23권4호
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• pp.41-49
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• 2018

The purpose of this study is to investigate the effect of computer pointing game on the visual perception ability of children with severe intellectual disability. Based on a literature review, we developed a computer pointing game to improve visual perception ability, which consisted of three stages; catching a hamburger, catching a hamburger and a soda, and catching various foods. At each stage, different instructional models were applied by difficulty level of the contents. Experiments were performed among four children with severe intellectual disabilities for three weeks. They belonged to H public school in Kyeonggi, Korea. Their visual perceptions were quantitatively measured four times by utilizing the Korean Developmental Test of Visual Perception tool (K-DTVP-2). For qualitative evaluation, an observation assessment diary was written and analyzed. All four children at the fourth test showed better visual perception ability, compared with the ability at the first test. As a result of the analysis of the observation assessment, they were considered successful in their learning and ordinary life related to visual perception. It can be concluded that the computer pointing game may play a role in helping children with severe intellectual disabilities improve their visual perception ability.

• 재활치료과학
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• 제13권1호
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• pp.49-63
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• 2024

목적 : 본 연구의 목적은 현상학적 방법론과 워드 클라우드 분석을 통해 발달장애 아동 부모의 인지재활 경험에 대한 인식을 알아보기 위함이다. 연구방법 : 인지재활에 대한 부모 인식을 알아보기 위하여 발달장애 아동의 부모 5명을 심층 인터뷰하였다. 아울러 Python을 사용하여 워드 클라우드 분석을 하였고, 출현 빈도 수가 높은 단어를 중심으로 5명의 연구자가 의미 단위와 주제를 현상학적 방법으로 분석하였다. 결과 : 인지재활의 현상에 대한 의미 단위 43개 및 구성요소 9개를 도출하였고, 이로부터 총 3개의 주제를 최종 도출하였다. 도출된 중심 주제는 인지재활의 정의, 인지재활의 문제점, 인지재활 기관 선택 시 고려사항이었다. 인지재활은 발달장애 아동의 학습, 일상생활 기능, 인지기능 향상을 목적으로 하는 치료라는 인식이 있었다. 인지재활의 문제점으로는 치료방식, 치료사의 전문성, 치료비용에 관한 문제인식이 있었다. 마지막으로, 인지재활 기관 선택 시 고려사항으로는 치료사의 전문성, 입소문, 비용과 시간의 적정성이 있었다. 결론 : 발달장애 아동의 부모는 인지재활을 통해 아동의 실질적인 기능 향상을 기대하고 있었고, 이와 더불어 임상에는 현실적인 문제들이 존재하고 있었다. 본 연구는 부모가 인식하는 문제점들을 보완한 보다 나은 인지재활 서비스로 발전되는 데 기초자료가 될 것이다.

• 대한물리치료과학회지
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• 제13권2호
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• pp.27-36
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• 2006

The purpose of this study would like to analyze statically significant difference for low back-pain frequency of mother after development-disability children. Seven nursery children with disability conducted survey from 122 mothers cared children with disability. Survey data was obtained from April 14. 2006 to May 23. 2006. The results were as follows: According to walking-existence, assistance walking, and disability-degree, low back pain incidence frequency of mothers were statically significant difference, (p<0.05). Low back pain incidence frequency of walker-ability population was 51.4%, but low back pain incidence frequency of walker-disability population was 80.0%. then low back pain incidence frequency of mothers to walking-existence was differed amount. Disabled not statically significant difference to encephalopathy and disability-type1 and disability -type2 (p>0.05). children with disability-degree and assistance walking benchmarked low back pain disability-measure. Low back pain degree not relevancy statically significant. Physical load was statically significant difference between Oswestry's low back pain score and reach effect to child-cared(p<0.05). As development-children with disability of disable degree, Mother appeared to highly low back pain frequency rate and appeared to large reach effect child-cared owing to physical load of low back pain. So hereafter, location and person request to approach with more clinical and objectively. As approach result, it will help to stress solution of children with disability owing to develop to low back pain class and family capable strengthening program and so on.

• 대한감각통합치료학회지
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• 제4권1호
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• pp.47-55
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• 2006

Objective : The purpose of this study was to evaluate the correlation between visual perception ability and activities of daily living(ADL) in the children with spastic diplegia who were treated at developmental disabilities children salutary institute. Method : The subject were consisted of 8 children with spastic diplegia(mean age, 10). The visual perception ability was measured by the Developmental Test of Visual Perception(DTVP) and by the Functional Independence Measure for Children(WeeFIM) to evaluate activities of daily living. Collected data analysis were completed by using correlation analysis. Results : Visual perception ability of children with spastic diplegia is the highest in Position in Space(PS) score, and is the lowest in Visual-Motor coordination(VM) score. Average visual perception performance of children with spastic diplegia is the highest in SR(Spatial relationship) score, and is the lowest in VM score. In activities of daily living, eating component were significantly correlated with Visual-Motor coordination. Conclusions : Therefore, accurate evaluation of visual perception ability and visual perception training for children with spastic diplegia will be important to improve patient's activities of daily living skill.

• 대한감각통합치료학회지
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• 제9권2호
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• pp.41-49
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• 2011

목적 : 전반적발달장애아동과 일반아동의 감각처리능력과 섭식특성에 어떤 차이가 있는지 알아보고 전반적발달장애아동의 감각처리능력과 섭식특성의 상관관계를 알아보기 위한 것이다. 연구방법 : 본 연구의 대상은 만 4세에서 6세의 전반적발달장애로 진단받은 아동과 만 4세에서 6세 사이의 일반적 아동이다. 연구도구는 자폐아동의 섭식행동 체크리스트(Brief Autism Mealtime Behavior Inventory: BAMBI), The Sensory Checklist의 Food 영역, 감각에 대한 아동의 반응 질문지(Short Sensory Profile: SSP)이다. 전반적 발달장애아동과 일반아동의 부모를 대상으로 하는 설문조사를 기관을 통해 실시하였다. 전반적발달장애아동의 설문지 45부와 일반아동의 설문지 109부를 분석하여 감각처리, 섭식행동, 구강섭식의 차이와 상관관계를 알아보았다. 결과 : 전반적발달장애아동과 일반아동의 감각처리능력은 차이가 있었다. 감각처리능력의 모든 하위 영역에서도 차이가 있었다. 전반적발달장애아동과 일반아동의 섭식특성인 섭식행동과 구강섭식에서는 차이가 없었다. 전반적발달장애아동은 감각처리능력에 어려움이 많을수록 섭식행동의 문제가 많이 나타났다. 전반적발달장애아동의 감각처리능력의 하위 영역 중 맛/냄새민감성, 청각여과하기에 어려움이 많을수록 섭식행동의 문제가 많이 나타났다. 그리고 감각처리능력의 하위 영역 중 과소반응/자극추구행동, 청각여과하기와 구강섭식은 상관관계가 있었다. 결론 :본 연구를 통해 전반적발달장애아동과 일반아동의 감각처리능력과 섭식특성을 비교하고 감각처리능력과 섭식 특성의 상관관계를 파악할 수 있었다. 본 연구의 결과를 전반적발달장애아동의 섭식행동 중재를 위한 프로그램 제공시에 활용할 수 있을 것이다.

• 한국콘텐츠학회논문지
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• 제21권7호
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• pp.510-518
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• 2021

본 연구는 원격시스템을 이용한 언어검사의 효용성과 이에 대한 부모의 만족도를 분석하였다. 연구방법은 언어발달장애 아동을 대상으로 수용·표현어휘력 검사(REVT)'의 검사문항을 반분하여 원격과 대면으로 각각 실시하고, 두 점수 간의 상관관계 및 차이를 분석하였다. 연구결과, REVT의 원격과 대면 검사의 점수 간에 높은 상관관계를 나타냈다. 그러나 수용어휘력에서 원격에서 대면보다 유의하게 낮은 점수가 나타났다. 양육자들은 원격 언어검사에 대해 평균 3.6점으로 보통 이상의 전반적 만족도를 나타냈다. 특히 원격 검사에 따른 시간과 이동/거리의 편리성에서 가장 높은 만족도를 보인 반면 원격이 대면 방식과 동일한 효과를 보인다고 생각하는가를 묻는 문항이 가장 점수가 낮았다. 본 연구는 국내에서 원격 검사의 적용의 가능성과 주의점들을 제시하였다는 점에서 의의가 있다.

• 대한물리치료과학회지
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• 제8권2호
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• pp.953-960
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• 2001

This study is approached the early intervention of children with disability in the aspect of family. The family of didabled children are identified as special individual with responsibilities and roles beyond those of other family. Physical Therapy need of the disabled child should be sought in the context of the family and socio-cultural environment. The process of early developmental facilitation is defined as a approach of the family. As family is the most influential factor in the child developmental facilitation, treatment and education. The family tend to seek complete information about disabilities, desire accurate, straight foreward about their child.