• Neonatal Medicine
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• 제16권1호
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• pp.10-17
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• 2009

The immature neonatal brain is susceptible to the development of seizures. Seizures occur in 1% to 5% of infants during the neonatal period. Neonatal seizures are most commonly associated with serious acute illnesses, such as hypoxic-ischemic encephalopathy, birth trauma, metabolic disturbances, or infections. Thus, newborn infants with seizures are at risk for neonatal death and survivors are at risk for neurologic impairment, developmental delay, and subsequent epilepsy. Experimental data have also raised concerns about the potential adverse effects of the currently used anticonvulsants in neonates on brain development. Therefore, in the management of neonatal seizures, confirmatory diagnosis and optimal, but shorter, duration of anticonvulsant therapy is essential. Nevertheless, there has been substantial progress in understanding the developmental mechanisms that influence seizure generation and responsiveness to anticonvulsants. The currently used therapies have limited efficacy and the treatment of neonatal seizures has not significantly changed in the past several decades, This review includes an overview of current approaches to the treatment of neonatal seizures.

• Asian Journal of Innovation and Policy
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• 제2권1호
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• pp.1-19
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• 2013

As the catch-up innovation system was exposed to a new competition environment in which second-tier catch-up countries reduced the gap with Korea and advanced Korean firms entered into the frontier product market, it is experiencing system delay in terms of organizational and policy change. Therefore, innovation policy needs to be reorganized from a dynamic perspective to analyze the problems in the transition period and enable the system to overcome organizational and institutional delays. This article investigates the characteristics of transition periods in terms of external environment changes and internal socio-economic pressures. Based on the analysis of environment changes and catch-up system characteristics, it suggests the framework for policy intervention, direction, and practical principles for post catch-up innovation policy. In particular, it suggests the network-based developmental state and policy implementation in order to overcome the limitation of centralized developmental state of catch-up periods.

• 한국콘텐츠학회:학술대회논문집
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• 한국콘텐츠학회 2016년도 춘계 종합학술대회 논문집
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• pp.389-390
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• 2016

Since the Salamanca statement in 1994, inclusive education became the worldwide issue in the field of educational policy. Inclusive education is defined that equality and comprehensive education in the classroom to learning together regardless of whether with disability or not (Han et al, 2013). Inclusive education is the educational system and consist of the three domains; guarantee of rights, improvement in environment and reform in curriculum (Han et al, 2015). Diversity education has been positioned as an educational method in inclusive education. Diversity in classroom is very wide ranging; nationality, gender, culture, race, ethnicity, disability, age and religion. Diversity education is the educational method to providing the appropriate education for the children's diversity on the assumption that appreciate to the diversity. In recent years, the main purpose of inclusive education is to encompass children with disabilities. However, developmental disabilities that has no intellectual delay become a new challenge in education in addition to the physical and mental disability. This study aims to definition of the diversity education as the educational method in Japan.

• 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 and Experimental Pediatrics
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• 제52권9호
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• pp.957-963
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• 2009

Neonatal seizures are the most common and distinctive clinical sign of prenatal and/or neonatal brain disorders. Newborn infants with seizures are at risk of mortality and survivors at risk for neurologic impairment, developmental delay, and subsequent epilepsy. Fifteen reports on neonatal seizures in Korea from 1983 to 2009 were analyzed. A total of 731 neonatal seizure cases were reported. Day of seizure onset, etiology, type of seizures, electroencephalogram findings, and outcomes were analyzed. It is necessary to establish a basic report for a future nationwide study of neonatal seizures.

• Clinical and Experimental Pediatrics
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• 제51권12호
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• pp.1295-1299
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• 2008

Inherited muscle diseases are heterogeneous with varying genetic etiologies and present with common symptoms and signs, including weakness, motor developmental delay, and hypotonia. To diagnose these various diseases, a meticulous family and clinical history, physical and neurological examinations, laboratory findings with electromyography, muscle biopsy, and genetic testing are needed. Here, I review several inherited muscle diseases, with a focus on muscular dystrophy in children and its genetics and general management.

• Journal of Interdisciplinary Genomics
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• 제5권2호
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• pp.24-28
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• 2023

Chromosomal microarray (CMA) is primarily recommended for detecting clinically significant copy number variants (CNVs) in the genetic diagnosis of developmental delay, intellectual disability, autism, and congenital malformations. Prenatal CMA is recommended when a fetus has major congenital malformations. The main principles of CMA can be divided into array comparative genomic hybridization and single-nucleotide polymorphism arrays. In the current CMA platforms, these two principles are combined, and detection of genetic abnormalities including CNVs and absence of heterozygosity is facilitated. In this review, I described practical assessment of CMA testing regarding to laboratory management of CMA, interpretation of CNVs, and special considerations for comprehensive genetic counseling.

• Clinical and Experimental Pediatrics
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• 제45권6호
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• pp.700-711
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• 2002

대 상: 영아의 발달 장애를 조기에 발견하여 치료를 하기 위하여는 발달 장애의 가능성이 있는 영아뿐 아니라 모든 영아의 정기 검진에서 발달 선별 검사를 시행하는 것이 바람직하다. 본 연구에서는 이러한 발달 선별에 사용할 수 있고 결과를 점수화 할 수 있는 새로운 발달 선별 검사를 개발하고자 하였다. 방 법 : 1개월에서 4세의 아동에 사용할 수 있는 이화 영아 발달 선별 검사를 개발하고 이를 베일리 영아 발달 검사를 기본검사로 하여 동시에 104명의 영아에 시행하였다. 104명 중 건강한 아동은 94명, 발달 지연을 주소로 내원한 아동은 10명이였다. 이화 발달 선별 검사의 가상 합격선을 80, 85, 90점으로 하여 각각의 점수에서 민감도와 특이도, 예측가를 계산하였다. 결 과 : 이화 영아 발달 선별 검사의 합격선을 90점으로 하는 경우 민감도 83.3%, 특이도 93.5%, 예측가 62.5%로 비교적 안정된 결과를 나타내었다. 결 론 : 발달 선별 검사의 결과를 점수화 하는 데에는 문제가 있을 수 있지만 발달을 진단하기 위해서가 아니라 선별하기 위해서 사용한다면 이러한 위험을 피할 수 있을 것이며 앞으로 더 많은 수의 아동을 상대로 검사를 시행하여 보완할 필요가 있을 것이다.

• Clinical and Experimental Pediatrics
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• 제59권2호
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• pp.74-79
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• 2016

Purpose: Febrile seizure, the most common type of pediatric convulsive disorder, is a benign seizure syndrome distinct from epilepsy. However, as epilepsy is also common during childhood, we aimed to identify the prognostic factors that can predict epilepsy in children with febrile seizures. Methods: The study comprised 249 children at the Korea University Ansan Hospital who presented with febrile seizures. The relationship between the subsequent occurrence of epilepsy and clinical factors including seizure and fever-related variables were analyzed by multivariate analysis. Results: Twenty-five patients (10.0%) had additional afebrile seizures later and were diagnosed with epilepsy. The subsequent occurrence of epilepsy in patients with a history of febrile seizures was associated with a seizure frequency of more than 10 times during the first 2 years after seizure onset (P<0.001). Factors that were associated with subsequent occurrence of epilepsy were developmental delay (P<0.001), preterm birth (P =0.001), multiple seizures during a febrile seizure attack (P =0.005), and epileptiform discharges on electroencephalography (EEG) (P =0.008). Other factors such as the age at onset of first seizure, seizure duration, and family history of epilepsy were not associated with subsequent occurrence of epilepsy in this study. Conclusion: Febrile seizures are common and mostly benign. However, careful observation is needed, particularly for prediction of subsequent epileptic episodes in patients with frequent febrile seizures with known risk factors, such as developmental delay, history of preterm birth, several attacks during a febrile episode, and epileptiform discharges on EEG.

• Clinical and Experimental Pediatrics
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• 제59권sup1호
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• pp.19-24
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• 2016

Constitutional interstitial deletions of the long arm of chromosome 5 (5q) are quite rare, and the corresponding phenotype is not yet clearly delineated. Severe mental retardation has been described in most patients who present 5q deletions. Specifically, the interstitial deletion of chromosome 5q33.3q35.1, an extremely rare chromosomal aberration, is characterized by mental retardation, developmental delay, and facial dysmorphism. Although the severity of mental retardation varies across cases, it is the most common feature described in patients who present the 5q33.3q35.1 deletion. Here, we report a case of a de novo deletion of 5q33.3q35.1, 46,XY,del(5)(q33.3q35.1) in an 11-year-old boy with mental retardation; to the best of our knowledge this is the first case in Korea to be reported. He was diagnosed with severe mental retardation, developmental delay, facial dysmorphisms, dental anomalies, and epilepsy. Chromosomal microarray analysis using the comparative genomic hybridization array method revealed a 16-Mb-long deletion of 5q33. 3q35.1(156,409,412-172,584,708)x1. Understanding this deletion may help draw a rough phenotypic map of 5q and correlate the phenotypes with specific chromosomal regions. The 5q33.3q35.1 deletion is a rare condition; however, accurate diagnosis of the associated mental retardation is important to ensure proper genetic counseling and to guide patients as part of long-term management.