• Clinical and Experimental Pediatrics
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• 제49권10호
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• pp.1026-1030
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• 2006

Mental retardation(MR) is one of the most common developmental disabilities, which is characterized by deficits in intellectual and adaptive functions. Most children with MR have cognitive limitation in the mild range. With respect to the etiology, it is believed that genetic and environmental factors are interrelated and show variable pictures. Most children with MR present with speech and language delay during the early years. The diagnosis can be made by clinical features and neuropsychological tests of intelligence and adaptive functioning. The treatment is limited, but many associated problems are amenable to multidisciplinary interventions. The article will review the recent advances in the management of MR and other neurodevelopmental disorders in children.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• 제23권1호
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• pp.31-35
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• 2012

Noonan syndrome is characterized by short stature, typical facial dysmorphology, and congenital heart defects. The main facial features of Noonan syndrome are hypertelorism with down-slanting palpebral fissures, ptosis, and low-set posteriorly-rotated ears with a thickened helix. The cardiovascular defects most commonly associated with this condition are pulmonary stenosis and hypertrophic cardiomyopathy. Other associated features are webbed neck, chest deformity, mild intellectual deficit, cryptorchidism, poor feeding in infancy, bleeding tendency, and lymphatic dysplasias. The patient is a 10-year-old boy. He had experienced repeated febrile convulsions. He had typical facial features, a short stature, chest deformity, cryptorchidism, vesicoureteral reflux, and mental retardation. His language and motor development were delayed. When he went to school, it was difficult for him to pay attention, follow directions, and organize tasks. He also displayed behavior such as squirming, leaving his seat in class, and running around inappropriately. Clinical observation is important for the diagnosis, so we report a patient who was diagnosed with Noonan syndrome, mental retardation, and attention-deficit hyperactivity disorder.

• 한국주거학회논문집
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• 제12권2호
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• pp.171-180
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• 2001

The purpose of this study is to provide an instrument of architectural programming in dwelling and facilities design for the mentally retarded. To do this the normal daily life activities have been analyzed and find the living characteristics who live in mental rehabilitation facilities. Generally, mentally retarded people have below IQ.75, and their normal daily life and social adjustment have some problem. Additionally, multiple disability existence and the difference of disability level have great difference in their living activities depend on person. For this research, People who live in 4 rehabilitation facilities in Daegu, Kyungbuk were investigated. It is particularly necessally space organization for sever retardation and multiple disability children, mild or moderate retardation children and adults to analyze their behavior of moving, stool, meal, and living in a group.

• 대한장애인치과학회지
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• 제5권1호
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• pp.23-26
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• 2009

본 증례는 전반적인 치과치료를 위해 본과에 의뢰된 다수의 치아우식증으로 본과에 내원한 중등도 정신지체 환자로, 전치부 개방교합과 함께 상악 전치부의 총생이 있어 이 부분에 대해서는 본원 보철과에 협진을 의뢰하였다. 전신마취 하에 소아치과에서 보존, 외과적 처치 및 치주 치료를 시행하였으며, 보철과에서 상악 좌우측 견치를 지대치로 한 4-unit bridge를 제작, 심미적 결과를 얻었기에 보고하는 바이다. 본 증례 에서와 같이 전신마취 하의 포괄적인 치과치료를 계획함으로써 여러 번 치료의 불편함 없이 한번에 대부분의 치료를 완료할 수 있었다. 또한 환자에게 치과치료에 대한 공포심을 유발하지 않아 환자와 치과의사의 치료적 관계 형 성이 용이하며 양질의 진료가 가능하고 술자 및 환자의 스트레스를 줄일 수 있는 장점이 있다고 할 수 있겠다.

• Journal of Yeungnam Medical Science
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• 제9권2호
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• pp.427-435
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• 1992

We have experienced a case of infantile nephrotic syndrome confirmed by renal biopsy in a 13-month-old female patient who showed growth and develop mental retardation and persistent proteinuria. She revealed mild eyelid edema, joint laxity, delayed speech development and adrenal cortical calcification on the radiologic study. Renal biopsy showed microcystic tubular change, micro-glomeruli and marked mesangial proliferation.

• 대한유전성대사질환학회지
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• 제13권2호
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• pp.98-103
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• 2013

Purpose: MAT-I/III deficiency by MAT1A gene mutation causes isolated hypermethioninemia, which is considered to be a clinically benign disease. But in some patients, mental retardation, developmental delay, myelination disorder may be shown. This study was performed to find out the clinical manifestations and genetic characteristics of patients with isolated hypermethioninemia. Methods: Clinical, biochemical and genetic analysis were done to 10 patients with isolated hypermethioninemia who were referred to department of pediatrics, Soonchunhyang University Hospital from March 1999 to March 2012. Results: At first visit, all patients' mean plasma methionine level was 5.5 mg/dL (2.1-14.6) and there were no increase of amino acid levels including homocystine in all patients. Serum homocysteine level was evaluated in seven patients who visited after year 2003, and ranged from 4.96 to $11.15{\mu}mol/L$ (normal < $25{\mu}mol/L$). Methionine restricted diet was started to all patients. Nine patients who managed regularly showed normal development, but one patient whose initial plasma methionine level was 14.6 mg/dL showed language delay at 1 year of age and was diagnosed as mild mental retardation (IQ=66) at 6 years of age. Genetic analysis was done to eight patients, R264H mutation was identified in seven patients. Also, both R299C and R356Q mutation were identified in one patient. Conclusion: Clinical findings in patients with isolated hypermethioninemia were generally good, but one patient showed mental retardation and language difficulty. R264H mutation which usually inherits as an autosomal dominant trait was most frequently found in our patients, and R299C/R356Q mutation were also identified.

• Journal of mucopolysaccharidosis and rare diseases
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• 제5권1호
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• pp.29-33
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• 2021

Prader-Willi Syndrome (PWS) is a neurodevelopmental genomic imprinting disorder involving a lack of gene expression from the paternal chromosome 15q11-q13 region. This is typically due to paternal 15q11-q13 deletions (in approximately 60% of cases), maternal uniparental disomy 15, or when both 15s are from the mother (about 35% of cases). An imprinting center controls the expression of imprinted genes in the chromosome 15q11-q13 region. PWS is a neurodevelopmental disorder characterized by mental retardation and distinct physical, behavioral, and psychiatric features. Characteristic behavioral disturbances in PWS include excessive interest in food, skin picking, difficulty with a change in routine, temper tantrums, obsessive and compulsive behaviors, and mood fluctuations. Individuals with PWS typically have intellectual disabilities (borderline to mild/moderate mental retardation) and exhibit a higher overall level of behavior disturbances compared to individuals with similar intellectual disabilities. This condition severely limits social adaptations and quality of life. Different factors have been linked to the intensity and form of these behavioral disturbances, but there is no consensus regarding the cause. Consequently, there is still controversy surrounding management strategies and there is a need for new data. PWS is a multisystem disorder. Family members, caregivers, physicians, dieticians, and speech-language pathologists all play an important role in the management and treatment of symptoms in an individual with PWS. Here we analyze behavioral problems in children and adults with PWS by age and review appropriate management and treatment strategies for these symptoms.

• 한국전문물리치료학회지
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• 제15권1호
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• pp.86-95
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• 2008

The Pediatric Balance Scale (PBS) is a modified Berg's Balance Scale developed as a balance measure for school-aged children with mild to moderate motor impairments. The purpose of this study was to determine the inter-examiner reliability of the Korean version of PBS when applied to children with developmental delays. In this study, PBS was administrated to a total of 79 children with developmental delays (17 with global developmental delay, 31 with cerebral palsy, and 31 with mental retardation) in the Seoul Community Rehabilitation Center. Two pediatric trained physical therapists with longer than 13 year of clinical experience scored the children's performance blind, while replaying videotaped data. The inter-examiner reliability was statistically determined by intraclass correlation coefficients (ICCs). The results of this study revealed that the Korean version of PBS seems to have high inter-examiner reliability when applied to children with movement disorders such as global developmental delay (ICC=.96) and cerebral palsy (ICC=.97); however, it has relatively lower inter-examiner reliability (ICC=.78) for children with developmental delay secondary to mental retardation. therefore, the results support that the Korean version of the PBS could be a useful clinical measurement to assess the balance skills for children with developmental delay who have an adequate level of cognition to enable them to fol1ow the verbal instructions to complete the test.

• Journal of Genetic Medicine
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• 제10권2호
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• pp.117-119
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• 2013

Double trisomy mosaicism of two different cell lines is extremely rare, particularly those that involve constitutional trisomy 8. We report a case of 47,XXX/47,XX,+8 in a 12-year-old female presenting with several skeletal anomalies. She exhibited distinct phenotypic features such as tall stature, deviation of the left middle finger, webbing of both thumbs and flexion deformities of the both third and fifth distal intermediate phalanges. A mild impulse-control disorder was observed, without mental retardation. Chromosomal and fluorescence in situ hybridization analysis demonstrated double trisomy mosaicism both on lymphocytes and buccal epithelial cells.

• 한국정보교육학회:학술대회논문집
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• 한국정보교육학회 2009년도 하계학술대회
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• pp.227-233
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• 2009

웹 기반 학습 환경에서 스캐폴딩 (Scaffolding) 전략은 내용 지식과 과제의 특성을 반영하고 학습자 수준과 특성에 맞게 도움을 제공하여 개별화된 학습 환경과 학습자가 스스로 학습할 수 있도록 추가적인 정보를 제공할 수 있는 효과적인 학습 전략이다. 본 연구에서는 경도정신지체 학생이 학업 성취도 향상을 위해서 초인지 스캐폴딩 전략을 적용한 웹 기반 학습 시스템을 제안하고자 한다. 본 시스템의 특징은 다음과 같다. 첫째, 학습자에게 학습에 대한 방향과 목표를 명확하게 제시해 준다. 둘째, 과정에 집중할 수 있도록 학습단계마다 지원을 제공하여 학습의 효율성을 높이게 한다. 셋째, 교사와 학습자의 접근성이 용이하도록 개발하였다.