• 대한유전성대사질환학회지
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• 제12권2호
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• pp.85-93
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• 2012

목적: 유기산대사이상질환군은 신경계의 급만성 손상을 일으킬 수 있는 선천성대사장애 질환군으로 현재까지 밝혀진 질환들만 60여 질환에 이르는 다양한 질환들이 포함되어 있는 질환군이다. 그동안 국내에서는 이에 대한 연구가 되지 못하였고, 정리된 바 없다. 이에 본 연구자들은 발달지연을 일으키는 유기산대사이상질환군에 대하여 알아보고자 본 연구를 시행하였다. 방법: 2007년 1월 1일부터 2011년 12월 31일까지 5년 동안 한림대학교 춘천성심병원 임상 유전학 연구소에 유기산분석이 의뢰된 3,345명의 환자들 중 발달지연의 정보가 있었던 738명의 환자들을 2개월에서 2세까지의 영아기, 12세까지의 소아기, 12세 이후의 청소년기의 3군으로 나눠서 발작의 유무에 따른 유기산혈증을 비교 분석하였다. 2개월 미만의 신생아기의 환자들은 제외하였다. 나머지 연령군의 경우는 발달지연만 있었던 군과 발달지연과 함께 발작이 있었던 경우에는 전신발작, 국소발작, 복합발작으로 나눠서 비교분석하였고, 발달지연만 있었던 군과 발달지연과 발작이 동시에 나타났던 군의 차이를 알아보았다. 결과: 전 연령군에서 발작의 유무와 상관없이 발달지연이 있었던 모든 환자를 정리하여보면 전체 환자는 738명이었고, 그중 398명(53.9%)은 유기산분석에서 정상소견을 보였고, 340명(46.1%)에서 유기산대사이상이 진단되었다. 가장 많았던 진단은 MRCD로 253명(34.3%)이었으며, 케톤체분해이상이 39명(5.3%)로 뒤를 이었고, 3-히드록시이소부티르산혈증이 26명(3.5%)이 있었으며, 제2형 글루타르산혈증이 8명(1.1%)이 있었고, 소수의 환자들이 진단된 경우로는 피루브산탈수소효소결핍증이 3명(0.4%), 3-메틸글루타르산혈증과 제1형 글루타르산혈증이 각각 2명(0.3%)씩 있었으며, 메틸말론산혈증, 에틸말론산혈증, 3-메틸크로토닐글리신혈증, HMG-CoA lyase 결핍증 및 지방산산화이상들이 각각 1명(0.1%), 씩 진단되었다(Table 5). 결론: 발달지연을 일으킬 수 있는 유기산대사이상질환군에서 가장 높은 빈도를 차지하고 있었던 것은 MRCD였으며, 그 뒤를 케톤체분해이상과 3-히드록시이소부티르산혈증이 잇고 있었으며, 그 외 다양한 질환들이 소수지만 진단되고 있으며, 이 질환들은 치료와 재발의 예방이 가능하다는 점에서 발달지연의 감별진단에 반드시 포함시켜야 된다고 판단된다.

• Journal of Interdisciplinary Genomics
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• 제3권1호
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• pp.13-20
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• 2021

Developmental and epileptic encephalopathies are the most devastating early-onset epilepsies, characterized by early-onset seizures that are often intractable, electroencephalographic abnormalities, developmental delay or regression, and various comorbidities. A large number of underlying genetic variants of developmental and epileptic encephalopathies have been identified over the past few decades. However, the most thorough sequencing studies leave 60-65% of patients without a molecular diagnosis. This review explores the genetic basis of developmental and epileptic encephalopathies that start within the first year of life, including Ohtahara syndrome, early myoclonic encephalopathy, epilepsy of infancy with migrating focal seizures, infantile spasms, and Dravet syndrome. The purpose of this review is to give an overview and encourage the clinicians to start considering genetic testing as an important investigation along with electroencephalogram for better understanding and management of developmental and epileptic encephalopathies.

• Clinical and Experimental Pediatrics
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• 제62권5호
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• pp.187-192
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• 2019

Purpose: The importance of the neurodevelopmental outcomes of very-low-birth-weight (VLBW) infants has been emphasized as their mortality rate has markedly improved. This study aimed to assess the validity of the Korean Developmental Screening Test (K-DST), a developmental screening tool approved by the Korean Society of Pediatrics, for the timely diagnosis of neurodevelopmental delay in VLBW infants. Methods: Subjects included VLBW infants enrolled in the Korean Neonatal Network database between January 2012 and December 2014. The collected data were analyzed for sensitivity, specificity, positive predictive value, and negative predictive value (NPV) in the K-DST compared to those in the Bayley Scales of Infant Development-II for VLBW infants. Results: A total of 173 patients were enrolled. Their mean gestational age and mean birth weight were $27.5{\pm}2.8weeks$ and $980.5{\pm}272.1g$, respectively. The frequency of failed psychomotor developmental index (PDI) <85 was similar to that in at least one domain of K-DST <1 standard deviation. Failure in more than one K-DST domain compared with a mental developmental index (MDI) <85 showed a sensitivity and NPV of 73.2% and 75.0%, respectively. Failure in more than one K-DST domain compared with PDI <85 showed a sensitivity and NPV of 60.3% and 71.6%, respectively. Each K-DST domain had a stronger correlation with predicting a failing MDI <85 than a failing PDI <85 (P<0.05). Conclusion: K-DST could be a useful screening tool for predicting mental developmental delay in VLBW infants and referring them for neurodevelopmental assessments.

• Clinical and Experimental Pediatrics
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• 제59권sup1호
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• pp.25-28
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• 2016

Phelan-McDermid syndrome is a rare genetic disorder caused by the terminal or interstitial deletion of the chromosome 22q13.3. Patients with this syndrome usually have global developmental delay, hypotonia, and speech delays. Several putative genes such as the SHANK3, RAB, RABL2B, and IB2 are responsible for the neurological features. This study describes the clinical features and outcomes of Korean patients with Phelan-McDermid syndrome. Two patients showing global developmental delay, hypotonia, and speech delay were diagnosed with Phelan-McDermid syndrome via chromosome analysis, fluorescent in situ hybridization, and multiplex ligation-dependent probe amplification analysis. Brain magnetic resonance imaging of Patients 1 and 2 showed delayed myelination and severe communicating hydrocephalus, respectively. Electroencephalography in patient 2 showed high amplitude spike discharges from the left frontotemporoparietal area, but neither patient developed seizures. Kidney ultrasonography of both the patients revealed multicystic kidney disease and pelviectasis, respectively. Patient 2 experienced recurrent respiratory infections, and chest computed tomography findings demonstrated laryngotracheomalacia and bronchial narrowing. He subsequently died because of heart failure after a ventriculoperitoneal shunt operation at 5 months of age. Patient 1, who is currently 20 months old, has been undergoing rehabilitation therapy. However, global developmental delay was noted, as determines using the Korean Infant and Child Development test, the Denver developmental test, and the Bayley developmental test. This report describes the clinical features, outcomes, and molecular genetic characteristics of two Korean patients with Phelan-McDermid syndrome.

• Child Health Nursing Research
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• 제19권1호
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• pp.12-20
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• 2013

목적 본 연구는 영유아의 발달지연의심에 영향 미치는 요인을 파악하여 영유아의 성장발달 지연 예방 프로그램 개발에 기초자료를 제공하고자 시도하였다. 방법 연구대상은 B시 16개구 보건소를 방문한 0-6세까지의 영유아와 그의 어머니로 총 133명이었고, 영유아의 발달검사를 위해서는 한국형 덴버 II 도구를 사용하였으며, 자료분석은 SPSS 19.0을 이용하여 ${\chi}^2$-test와 Fisher's exact test, 다중 로지스틱 회귀분석을 실시하였다. 결과 신체계측 결과 체중 3백분위 미만은 7.5%였고, 현재체중 백분위가 출생시 체중백분위보다 성장곡선 두 칸 이상 감소한 경우는 8.4%였다. 한국형 덴버 II 결과에 의한 발달지연의심 비율은 9.8%였다. 영유아의 발달지연의심 예측요인은 체중백분위 변화, 경제상태, 어머니가 지각한 아동의 발달상태였다. 즉, 출생시 체중백분위가 '감소'하는 경우가 '유지'되는 경우보다 발달지연의심이 나타날 확률이 6.69배 높았고, 경제상태가 '하'인 경우가 '중'인 경우보다 발달지연의심이 나타날 확률이 6.26배 높았으며, 어머니가 지각한 아기의 발달상태가 '의심'인 경우가 '정상'인 경우보다 발달지연의심 비율이 4.99배 높게 나타났다. 결론 영유아들의 건강한 성장발달을 위해서는 출생 시부터 주기적으로 아동의 성장발달상태를 관리하는 정부차원의 시스템 구축이 필요하고, 특히 저소득층 및 1세 이하의 영아들을 위한 보다 짧은 주기의 성장발달평가 프로그램이 필요하다.

• Clinical and Experimental Pediatrics
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• 제52권7호
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• pp.772-777
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• 2009

목 적 : 발달 지연이 있는 환아들을 대상으로 한국형 영유아 발달 검사와 K-BSID-II를 병행하여 서로 간의 상관 관계와 일치도를 분석함으로써 유사한 발달 영역에서 동일한 판정 정도를 확인하고자 하였다. 방 법 : 2007년 2월부터 2008년 6월까지 서울 아산 병원 소아청소년과에 발달 지연을 주소로 내원한 월령 42개월 이하의 환자 28명을 대상으로 하여 한국형 영유아 발달 검사 및 K-BSID-II를 시행하였다. 월령별로 12개월 이하와 13-24, 25-42개월 대상자로, 기질적 뇌병변이 두부 자기 공명 단층 촬영에 의해 확인되었던 군과 그렇지 않은 군으로 분류하여 각각의 한국형 영유아 발달 검사 결과와 K-BSID-II 결과를 비교하였다. 통계 분석은 SPSS를 사용하여 상관 관계를 분석하고 SAS를 사용하여 급내 상관 계수(Intraclass correlation coefficient)를 구하여 일치도를 분석하였다. 결 과 : 상관 관계 면에서 K-BSID-II의 인지 척도는 한국형 영유아 발달 검사의 전 영역과, 동작 척도는 조대 운동, 개인-사회성, 언어, 인지-적응 영역과 통계적으로 유의미한 상관을 나타내었다(P<0.01). 일치도 면에서 K-BSID-II의 인지 척도는 한국형 영유아 발달 검사의 조대 운동, 미세운동, 언어 영역과, 동작 척도는 조대 운동과 높은 일치도를 보였다(P<0.05). 결 론 : 발달 지연이 있는 환아에서 한국형 영유아 발달 검사는 조대 운동을 비롯한 여러 하위 영역에서 K-BSID-II와 유의한 상관 관계 및 일치도를 보였으며 한국 영유아의 발달 정도를 파악하는 비교적 정확한 지표로 사용될 수 있음을 시사한다.

• Clinical and Experimental Pediatrics
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• 제63권6호
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• pp.211-212
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• 2020

• Child Health Nursing Research
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• 제12권3호
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• pp.398-404
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• 2006

Purpose: To investigate the rate of questionable development in infants born prematurely and explore factors affecting developmental delays. Method: The participants were 46 infants born prematurely being seen in one of two urban health centers. A questionnaire and the HOME checklist were used to collect data, and the Korean Denver II developmental screening test was administered. Results: Of the participants 21.7% were classified as having questionable development. The only variable with a significant difference between the two groups was acceptance　in the HOME checklist. Psychosocial factors such as mothers' burden, depression, family functioning, and social support were not significantly different between the two groups. Conclusion: An early developmental screening test for prematurely born infants is needed. Also, the childrearing environment was identified as a significant factor in infants' development. These findings suggest that HOME score might be useful for identifying infants at risk for developmental delays and interventions for these infants will probably be more effective if their mothers can provide a more appropriate social environment. Further studies are suggested with larger samples.

• International Journal of Human Ecology
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• 제1권1호
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• pp.59-77
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• 2000

The purpose of this study was to extend our understanding of the developmental antecedents of delay of gratification in infancy. The first goal was to examine direct effects of one feature of an infants’ temperament and of positive and negative parenting assumed at age one on children’s delay of gratification six months later. The second goal of the study was to test the interactive effect of early infant temperament and parenting on children’s delay of gratification. It was hypothesized that 1) less negative infants at 12 months would delay gratification longer six months later, 2) children of parents who provided more positive and sensitive feedback would delay gratification longer than children with parents who were more negative and less sensitive, and 3) there would be differential prediction of parenting for children who scored high and low in negative emotionality as infants. Toward this end, 81 infants were observed interacting at one year of age with their mothers and fathers during laboratory assessments to obtain measures of parenting and infant negative emotionality. At 18 months of age, the child’s capacity to delay touching attractive objects was measured. The main effects of infant negative emotionality and of mothering on children’s delay of gratification were not detected at standard levels of significance. Differential effects of parenting on children’s delay of gratification for infants with low or high negative emotionality, too, were not detected. However, the anticipated effect of fathering on delay of gratification was found in some analyses, indicating that the more positive fathering children received, the longer they could delay gratification in the laboratory six months later.

• Clinical and Experimental Pediatrics
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• 제58권4호
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• pp.117-122
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• 2015

Global developmental delay (GDD) is a relatively common early-onset chronic neurological condition, which may have prenatal, perinatal, postnatal, or undetermined causes. Family history, physical and neurological examinations, and detailed history of environmental risk factors might suggest a specific disease. However, diagnostic laboratory tests, brain imaging, and other evidence-based evaluations are necessary in most cases to elucidate the causes. Diagnosis of GDD has recently improved because of remarkable advances in genetic technology, but this is an exhaustive and expensive evaluation that may not lead to therapeutic benefits in the majority of GDD patients. Inborn metabolic errors are one of the main targets for the treatment of GDD, although only a small proportion of GDD patients have this type of error. Nevertheless, diagnosis is often challenging because the phenotypes of many genetic or metabolic diseases often overlap, and their clinical spectra are much broader than currently known. Appropriate and cost-effective strategies including up-to-date information for the early identification of the "treatable" causes of GDD are needed for the development of well-timed therapeutic applications with the potential to improve neurodevelopmental outcomes.