• Journal of Genetic Medicine
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• 제19권2호
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• pp.105-110
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• 2022

The microdeletion syndrome of chromosome 2p15p16.1 (MIM: 612513) is an extremely rare contiguous gene deletion syndrome. Microdeletions of varying sizes in the 2p15-16.1 region are associated with developmental delay, intellectual disability, autism spectrum disorder, hypotonia, and craniofacial dysmorphism. Previous studies have identified two critical regions: the proximal 2p15 and distal 2p16.1 regions. BCL11A, PAPOLG, and REL genes play crucial roles in patients with 2p16.1 microdeletion. To our knowledge, only 39 patients have been reported as having 2p15p16.1 microdeletion syndrome. Here, we present another patient with 2p15p16.1 microdeletion syndrome. A nine-month-old boy was referred to our clinic for the psychomotor delay, facial dysmorphism, and congenital hypothyroidism. During his follow-up visits, he was diagnosed with global developmental delay, intellectual disability, abnormal behavior, hypotonia, microcephaly, and abnormal electroencephalography. Using a chromosomal microarray for genetic analysis, a novel, de novo, 622 kb microdeletion of 2p16.1 was identified as one of the critical regions of the 2p15p16.1 microdeletion syndrome. This is the first case of its kind in Korea. We have discussed our case and literature reviews to clarify the relationship between the genes involved and clinical phenotypes in 2p15p16.1 microdeletion syndrome.

• 아동학회지
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• 제2권
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• pp.1-16
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• 1981

This study had two purposes. First, to examine the stages and developmental order of object permanence based on Piaget's theory. Second, to assess the effects of delay, attentiveness, and direction of gaze. Two experiments were conducted to examine the object permanence development in infants. The subjects for the 2 experiments were randomly drawn from a well-baby clinic. The subjects for Experiment 1 were 72 infants, 12 each in 6 age levels : 6, 9, 12, 15, 18, and 21 months old. Experiment 1 was designed to examine the stages and developmental order of object concept development, ana infants received 5 tasks as follows : (1) finding an object partially hidden under one box (2) finding an object completely hidden under one box (3) finding an object after successive visible displacements (4) finding an object after one invisible displacement (5) finding an object after successive invisible displacements. The subjects for Experiment 2 were 24 9-month-olds. Experiment 2 was designed to assess the effects of delay, attentiveness, and direction of gaze for Stage IV of object concept development. Subjects were equally assigned into one of two delay groups: 0-sec delay and 3-sec delay. Attentiveness was rated in terms of a three-point scale, and then divided into high and low attentive groups. Direction of gaze was judged into two directions. In two experiments, infants received three trials of task, and received a score of 0, 1, 2 for each trials. Data were analyzed by ANOVA, Tukey test, and t-test for task performance, and direction of gaze was analyzed by chi-square. The results obtained from two experiments were as follows : 1. In object permanence test, subjects obtained significantly higher scores with age, and 6, 9, 12, 18 months were classified into different developmental stages. 2. In object permanence development, subjects received significantly different scores with task and a developmental order of tasks was found. First of all, infants mastered finding an object partially hidden under one box, and then mastered finding an object completely hidden under one box. Contrary to Piagetian theory, in this study, the development of finding an object after successive visible displacements and finding an object after one invisible displacement were sometimes reversed. Finally, finding an object after successive invisible displacements was mastered, and the concept of object permanence was completed. 3. In Stage IV of object concept development, a 3-sec delay did not significantly affect the performance of tasks. The O-sec delay group didn't perform significantly better than the 3-sec delay group. 4. In Stage IV of object concept development, attentiveness of infants significantly affected the performance of task. So the highly attentive infants obtained better performance scores than the low attentive infants. 5. In Stage IV of object concept development, direction of gaze significantly affected the performance of task. That is, infants who gazed at the box which contained the object showed a higher rate of success than infants who gazed at the box which had already displaced the object.

• 지역사회간호학회지
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• 제12권1호
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• pp.49-59
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• 2001

Purpose: This study was intended to develop the framework of public health center based 'Child growth and developmental clinic' and analyze the efficiency of services. This was the part of Mother-Child Health Guidance Project by the Public Health Center in Seoul. The purposes of this project were to improve children's health and development with early detection of developmental delay by screening test, and to assist and guide the parent for child care and rearing, so that children can reach their maximum potential. Method: Framework and standards for operation of 'Child growth and development clinic' were developed. We selected screening tool. developed parent education materials, and educated the personnel of public health center. Result: 243 children were enrolled for developmental screening, and we detect the children with developmental delay and referred them for further evaluation. The proportion of developmental delayed children was approximately 2% of the enrolled children. Also, we analyzed the characteristics of enrolled children, and their parental needs and attitude on child rearing. Some problems in operation of developmental clinic were discussed. Conclusion: Though we can found some limitations, we are confident that pubic health center can be charge of important role for improving child development for the majority. This study will be the basis of children's developmental clinic running by public health center.

• 대한감각통합치료학회지
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• 제19권2호
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• pp.36-45
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• 2021

목적 : 본 연구는 발달지연의 아동을 대상으로 과제지향의 중재를 사용하여 시-운동 협응과 소운동 협응 기능의 변화를 알아보고자 하였다. 연구방법 : 연구대상은 6세의 여아 1명이었다. 아동은 진단은 받지 않았으나 전반적인 기능에 발달지연을 보였다. 연구기간은 2021년 2월 5일부터 6월 4일까지이었고, 연구 설계는 단일대상연구 A-B를 사용하였다. 기초선 A는 초기 3회기로 아동의 기능 파악을 위해 초기평가를 하였다. 중재기 B는 12회기로 과제지향의 중재(task-oriented intervention)를 사용하였다. 기초선과 중재기에 동일하게 아동의 시-운동 협응 기능을 측정하기 위해 한국판 시지각발달검사 3판의 타원그리기를 실시하였고, 소운동 협응 기능을 측정하기 위해 Clinical Observation of Motor and Postural Skills(COMPS)의 손가락-코 짚기를 실시하였다. 회기별 변화도는 그림으로 제시하였다. 결과 : 한국판 시지각발달검사 3판의 타원그리기의 기초선 평균은 23점이었고, 중재기 평균은 39.66점으로 기초선에 비해 중재기의 평균이 16점 이상 향상되었다. COMPS의 손가락-코 짚기의 기초선 평균은 0점이었고, 중재기 평균은 5.08점으로 기초선에 비해 중재기의 평균이 5점 이상 향상되었다. 결론 : 취학 전의 발달지연아동에게 과제지향의 중재는 아동의 학습에 바탕이 되는 시-운동 협응과 소운동 협응 기능에 긍정적인 영향을 미치는 것으로 보인다.

• Clinical and Experimental Pediatrics
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• 제60권10호
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• pp.312-319
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• 2017

Purpose: To evaluate the usefulness of the Korean Developmental Screening Test (K-DST) for infants and children for developmental delay assessment. Methods: This study was based on retrospective studies of the results of the K-DST, Preschool Receptive-Expressive Language Scale (PRES), Sequenced Language Scale for Infants (SELSI), Childhood Autism Rating Scale (CARS), Modified Checklist for Autism in Toddlers (M-CHAT), electroencephalography, magnetic resonance imaging, and extensive tests conducted in 209 of 1,403 patients, of whom 758 underwent the K-DST at the Korea University Guro Hospital between January 2015 and December 2016 and 645 were referred from local clinics between January 2015 and June 2016. Results: Based on the K-DST results, the male children significantly more frequently required further or follow-up examination than the female children in most test sections, except for gross motor. The male children had notably lower mean scores than the female children. The PRES/SELSI results showed that when more further or follow-up evaluations were required in the K-DST communication section, significantly more problems in language delay or disorder emerged. When further or follow-up evaluation was required in the cognitive section in the CARS/M-CHAT, the possibility of autism increased significantly. A child tended to score low in the CARS test and show autism when further or follow-up evaluation was recommended in the K-DST. Conclusion: This study demonstrated the usefulness of the K-DST as a screening test early in the development of infants and children in Korea. Data of normal control groups should be examined to determine the accuracy of this investigation.

• Clinical and Experimental Pediatrics
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• 제63권6호
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• pp.195-202
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• 2020

Developments in next-generation sequencing (NGS) techogies have assisted in clarifying the diagnosis and treatment of developmental delay/intellectual disability (DD/ID) via molecular genetic testing. Advances in DNA sequencing technology have not only allowed the evolution of targeted panels but also, and more currently enabled genome-wide analyses to progress from research era to clinical practice. Broad acceptance of accuracy-guided targeted gene panel, whole-exome sequencing (WES), and whole-genome sequencing (WGS) for DD/ID need prospective analyses of the increasing cost-effectiveness versus conventional genetic testing. Choosing the appropriate sequencing method requires individual planning. Data are required to guide best-practice recommendations for genomic testing, regarding various clinical phenotypes in an etiologic approach. Targeted panel testing may be recommended as a firsttier testing approach for children with DD/ID. Family-based trio testing by WES/WGS can be used as a second test for DD/ID in undiagnosed children who previously tested negative on a targeted panel. The role of NGS in molecular diagnostics, treatment, prediction of prognosis will continue to increase further in the coming years. Given the rapid pace of changes in the past 10 years, all medical providers should be aware of the changes in the transformative genetics field.

• 동의생리병리학회지
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• 제21권4호
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• pp.1025-1029
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• 2007

It is widely assumed that Intelligence Quotient (IQ) is determined by inherent disposition and environmental factor. IQ is estimated by age-conversion score and stabilized around age 4 and IQ of adult age can be predicted after age 10. Though children with Mental Retardation (MR) are delayed in language development since early infant period, they receive only special education including speech and language therapy, but no special medication. In traditional Korean medicine, the etiology and treatment for developmental delay of language have been handed down for a long time. Some studies on herbs and prescriptions for improving language development have been undertaken recently. We have found several cases of significant elevation of IQ in the children treated with long term medications of Korean herbal medicine for improvement of language. Analyzing these cases, especially performance IQ showed significant change. Therefore we suggest that Korean herbal medicine might improve cognition development in children with MR.

• Journal of Genetic Medicine
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• 제18권2호
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• pp.105-109
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• 2021

Tetrasomy 18p is a genetic syndrome caused by an isochromosome consisting of two copies of the short arm of chromosome 18. Clinically, pediatric cases of tetrasomy 18p manifest with global developmental delay, similar to most cases of chromosomal abnormality. In addition, it causes various symptoms including abnormal muscle tone. We report a case of an infant with global developmental delay and remarkable spasticity, the typical phenotype of bilateral spastic cerebral palsy. However, she had a subtle anomaly in her face, and brain magnetic resonance imaging (MRI) findings were inconsistent with her strong upper motor neuron signs. Upon genetic testing, she was determined to have an 18p isochromosome, confirming de novo non-mosaic tetrasomy 18p. Cerebral palsy is a neurological disorder that includes developmental delay caused by a non-progressive lesion in the developing brain. During diagnostic workup in patients with cerebral palsy, genetic testing should be considered when there are minor physical anomalies or equivocal MRI findings.

• Clinical and Experimental Pediatrics
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• 제50권11호
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• pp.1061-1066
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• 2007

목 적 : 소아의 발달 장애는 조기에 발견하면 조기 치료가 가능하게 되어 치료 효과가 높아지고 후유 장애를 최소화할 수 있다. 발달 장애의 조기 발견을 위하여 기존에 사용해 오던 정식 발달 선별검사는 대부분 시간이 오래 걸리고, 복잡하며, 의료인력이 추가로 필요하기 때문에 바쁜 소아과 외래에서 모든 소아에게 적용하기는 어렵다. 기존의 발달검사 대신에 부모가 작성한 내용을 토대로 평가하는 발달 설문 양식들 중 Ages and Stages Questionnaire (ASQ)는 60개월 이전의 소아의 발달 선별을 목적으로 개발된 검사이다. 본 연구의 목적은 소아과 외래에서 시행하는 발달 지연의 선별 도구로서 ASQ의 타당성을 알아보기 위한 것이다. 방 법 : 가톨릭대학교 의과대학 부속 성모병원 소아과 외래를 방문한 소아의 부모에게 진료 전 대기 시간 동안 한국형 ASQ (K-ASQ)를 완성하도록 하였다. 설문지를 완성한 총 150명 중 만삭 출생아이며 이전에 발달지연의 진단을 받은 적이 없고, 기타 선천성 기형, 경련성 질환을 포함한 신경학적 이상, 유전성 질환의 경력이 없는 소아 67명을 대상으로 하였다. K-ASQ는 각 영역별로 평균에서 2 표준편차(SD) 아래 점수보다 낮으면 "실패"로 판정하며, 한 발달 분야 이상에서 "실패"가 있는 경우를 "선별검사 양성"으로 하였다. 최종 발달평가는 Bayley Scales of Infant Development-II (BSID-II)를 사용하여 판단하였으며, 지능 혹은 운동발달 지수가 평균보다 -1 SD 미만인 경우는 발달지연으로 판정하였다. K-ASQ의 결과를 BSID-II와 비교하여 분석하였다. 결 과 : 1) 대상아의 평균 연령은 $16.4{\pm}7.4$개월($6{\pm}30$개월 범위, 중앙치 14개월)이었다. 10명(14.9%)은 출생 시 부당경량아였으며, 평균 출생체중 $3.1{\pm}0.6kg$, 재태기간 $38.8{\pm}1.4$주이었다. 9명(13.4%)이 쌍생아였고, 33명(49.0%)이 남아였다. 대상 소아들의 모친의 평균 교육 기간은 $13.6{\pm}2.4$년, 53명(79.1%)이 고등학교 졸업 이상의 학력을 가졌고, 21명(31.3%)이 정규직 근무자였다. ASQ 설문지를 완성하는데 평균 $10.2{\pm}3.0$분이 소요되었다. (2) 17명(25.4%)이 ASQ 선별검사 양성이었는데, 그 중 4명은 발달이 지연되었고, 나머지 13명의 발달은 정상이었다. BSID-II로 판정한 발달 지연아 8명 중 4명은 ASQ 선별검사에서 양성이었고, 다른 4명은 선별검사 음성이었다. ASQ 선별검사 음성인 50명 중 4명이 발달지연으로 판단되었다. (3) BSID-II와 비교한 K-ASQ의 민감도(sensitivity)는 50.0%, 특이도(specificity) 78.0%, 양성 예측치 (positive predictive value) 23.5%, 음성 예측치(negative predictive value)는 92.0%로 나타났다. 결 론 : K-ASQ는 높은 음성 예측치를 보여 소아과 외래에서 소아 발달 지연의 선별 도구로서 사용하는 것이 타당한 것으로 판단되었다.

• 한국발생생물학회:학술대회논문집
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• 한국발생생물학회 2005년도 제20차 학술대회 논문집
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• pp.49-49
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• 2005