Developmental delay (DD)
Routine chromosomal microarray analysis is necessary in Korean patients with unexplained developmental delay/mental retardation/autism spectrum disorder
... CaseAge (yr) SexClinical featuresMLPA MicroarraySize (kb) OMIM genes (N)Critical genes or regionClassification Known microdeletion syndromeReasons of classification* 152MDD22q13.33 ...
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Predicting Factors of Developmental Delay in Infant and Early Children
... Key words: Infant, Growth, Development, Developmental delay 서 론 연구의 필요성 영유아기는 인간발달에 있어서 가장 큰 영향력을 미치는 중요한 시 기로 발달속도가 매우 빠를 뿐 아니라 성장 가능성이 가장 높은 시기 이다. 특히, 발달의 기초가 이루어지는 3세 이전의 경험 및 돌봄의 질 은 개인의 평생 건강과 안녕을 ...
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A newborn with developmental delay diagnosed with 4q35 deletion and 10p duplication
... 2 Department of Laboratory Medicine, College of Medicine, Inha University Hospital, Incheon, Korea 3 Department of Laboratory Medicine, Seoul St. Mary’s Hospital, College of Medicine, The Catholic University of Korea, ...
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MR Findings of Congenital Craniocerebral Anomaly: Correlation with Seizures and Developmental Delay
... Conclusion : Neuronal migration anomaly was relatively common lesion that presented neurologic mani- festations such as seizures and developmental delay. Generalized type[r] ...
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Chromosomal Microarray With Clinical Diagnostic Utility in Children With Developmental Delay or Intellectual Disability
... Methods: We conducted a genome-wide microarray analysis of 649 consecutive patients with developmental delay or intellectual disability at the Seoul National University Children’s Hospital. Medical records ...
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Factors Influencing the Gross Motor Outcome of Intensive Therapy in Children with Cerebral Palsy and Developmental Delay
... od was relatively short. Therefore, the persistence of the effects and long-term effects remains unknown. In this study, a change in the gross motor function (4.67 ± 3.93), measured by GMFM-88 was observed after 8 weeks ...
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The First Korean Case of De Novo Proximal 4p Deletion Syndrome in a Child With Developmental Delay
... We report a rare de novo interstitial deletion of 4p15.1-15.31 in a patient with developmental delay. The deleted region does not overlap with WHS regions and encompasses 19 genes: SLIT2, MIR218-1, KCNIP4, ...
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Clinical and Molecular Delineation of a Novel De Novo 4q28.3–31.21 Interstitial Deletion in a Patient with Developmental Delay
... and developmental delay, wide spectrum of phenotypes in 4q deletion syndrome patients have been de- scribed in correlations with deletion size, genes and genomic environment of the affected ...
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14q12q13.3 Deletion Diagnosed Using Chromosomal Microarray Analysis in an Infant Showing Seizures, Hypoplasia of the Corpus Callosum, and Developmental Delay
... microarray; Developmental delay; Failure to thrive; Genetic counseling INTRODUCTION 14q12q13 Microdeletion syndrome is a major chromosome anomaly associated with neurodevelopmental delay and learning ...
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Array-Based Comparative Genomic Hybridization in 190 Korean Patients with Developmental Delay and/or Intellectual Disability: A Single Tertiary Care University Center Study
... licenses/by-nc/3.0) which permits unrestricted non- commercial use, distribution, and reproduction in any medium, provided the original work is properly cited. Purpose: This study analyzed and evaluated the demographic, ...
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Clinical application of chromosomal microarray as a first-tier chromosome aberration test for patients with developmental delay and intellectual disability in Korea
... Abbreviations: ASD, autism spectrum disorder; DD, developmental display; MR, mental retardation; ID, intellectual disability; MCA, multiple congenital anomalies; CGH, comparative ge[r] ...
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Chromosomal Microarray Analysis as a First-Tier Clinical Diagnostic Test in Patients With Developmental Delay/Intellectual Disability, Autism Spectrum Disorders, and Multiple Congenital Anomalies: A Prospective Multicenter Study in Korea
... Despite these limitations, VUS may be a good candidate gene and pathway marker for rare developmental disorders. We de- tected a 7q31.1 deletion, including IMMP2L in three unrelated patients with DD, learning ...
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Three Cases of Developmental Delay Due to Cerebral Palsy Treated with Korean Medicine
... GMFM 66: Gross Motor Function Measure 66 PEDI: Paediatric Evaluation of Disability Inventory.. Table 1.[r] ...
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Toxic effects of new anti-fouling agents (diuron and irgarol) on the embryogenesis and developmental delay of sea urchin, Hemicentrotus pulcherrimus
... significant developmental delays were observed after 24 ...continuous developmental delays were observed in the process leading to the early gastrular, gastrular, early pluteus, and pluteus ...the ...
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The Effect of the Mother-Child Development Promotion Program for the Child with Developmental Delay on Mother's Depressive Mood and Parenting Stress
... American Psychological Association;1986. An overview of the nature and the changing concepts in commemoration of Kanner’s original publication. 7) Koegel RL, Schreibman L, Loos LM. Cons[r] ...
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The Effect of Paired-Group Sensory Integration Therapy on Sensory Processing, Peer Interaction, and Play in Children With Developmental Delay: A Case Study
... Ⅱ. 연구 방법 1. 연구대상 경기도 S시의 D아동발달센터를 이용하는 발달지연 만 4세 2명을 대상으로 실시하였다. 모집 공고를 통해 대상 자를 모집하였으며, 대상자의 부모에게 본 연구에 대한 방법 및 목적을 설명하고 사전 동의를 받아 연구를 시행 하였다. 대상자의 선정기준은 보호자와의 분리가 가능하 고 개별 감각통합치료에 참여한 적이 있으나 짝 그룹 감 각통합치료를 받은 경험이 없으며, ...
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A Comparison of Receptive-Expressive Language Profiles between Toddlers with Autism Spectrum Disorder and Developmental Language Delay
... abnormal eye contact, requesting behaviors, inappropriate use of emotions, decreased initiation of joint attention, and low level of communicative gestures. 5,6 Prospective studies showed that toddlers at high risk of ...
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DEVELOPMENTAL PSYCHOPHARMACOLOGY - DEVELOPMENTAL PHARMACOKINETICS, PHARMACODYNAMICS AND PHARMACOGENETICS -
... 가장 흔히 연구된 유전인자들은 Dopamine D4 수용체 (DRD4), dopamine D5 수용체(DRD5), dopamine- beta-hydroxyalse(DBH), dopamine transporter(DAT) 와 관련된 유전인자들이다. ADHD에 대한 연구도 있다. Methylphenidate에 대한 반응이 DAT[r] ...
Improved Delay-Dependent Stability Conditions for Uncertain Time-Delay Systems
... Improved Delay-Dependent Stability Conditions for Uncertain Time-Delay Systems Hyoun-Chul Choi, Hyungbo Shim, and Jin Heon Seo ASRI, School of Electrical Engineering and Computer Science, Seoul National ...
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The Design and Implementation of DELAY Module for Real-Time Broadcast Delay
... 본 논문에서는 미리 생성된 파일이나 실시간으로 생성되는 동영상을 SNS에서 서비스하는 외부 스트리 밍 서버의 출력 채널을 통하여 동영상 수신 단말에 제공하는 스트리밍 방법을 구현한다 . 특히 실시간 방 송되는 과정에서 여러 개의 스트림이 들어왔을 때 딜 레이를 맞춰주고 , 실시간 방송을 입력받아 바로 방송 하지 않고 시간지연을 주고 , 입력되는 방송을 체크함 으로 실시간 방송 사고를 줄이기 ...
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