• Journal of Genetic Medicine
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• v.19 no.2
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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.

• Korean Journal of Child Studies
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• v.2
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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.

• Research in Community and Public Health Nursing
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• v.12 no.1
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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.

• The Journal of Korean Academy of Sensory Integration
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• v.19 no.2
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• pp.36-45
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• 2021

Purpose : This study aims to identify changes in the visuomotor coordination and fine motor coordination functions caused by the use of a task-oriented intervention in a child with developmental delay. Methods : The participant, who was a 6-year-old girl, was not diagnosed but showed a developmental delay in overall function. The study period was February 5, 2021, to June 4, 2021, and a single-subject A-B study design was used. The baseline (A) was initially evaluated in the first three sessions to identify the child's functions. In the intervention period, 12 session (B), task-oriented intervention was applied; the child engaged in many of the activities in kindergarten, such as painting, writing, making, and cutting with scissors. Visuomotor coordination and fine motor coordination were equally measured during the baseline and intervention periods. Visuomotor coordination was measured via drawing of an oval according to the Korean Developmental Test of Visual Perception 3 (K-DTVP-3), and fine motor coordination was assessed using the finger-nose touching item of the Clinical Observation of Motor and Postural Skills (COMPS). Results : The mean of the baseline of the K-DTVP-3 oval drawing was 23, and the mean of the intervention period was 39.66. The mean of the baseline of the COMPS finger-nose touching was 0, and the mean of the intervention period was 5.08. Conclusion : Task-oriented intervention seems to have a positive effect on the visuomotor coordination and fine motor coordination abilities of children with developmental delay.

• Clinical and Experimental Pediatrics
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• v.60 no.10
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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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• v.63 no.6
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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.

• Journal of Physiology & Pathology in Korean Medicine
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• v.21 no.4
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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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• v.18 no.2
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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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• v.50 no.11
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• pp.1061-1066
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• 2007

Purpose : Early identification of developmental disabilities allows intervention at the earliest possible point to improve the developmental potential. The Ages and Stages Questionnaire (ASQ), a parent- completed questionnaire, can be used as a substitute for formal screening tests. The purpose of this study was to evaluate the validity of the Korean version of the ASQ (K-ASQ) as a screening tool for detecting developmental delay of young Korean children in the setting of a busy pediatric outpatient clinic. Methods : Parents completed the K-ASQ in the waiting room of the pediatric outpatient clinic of St. Mary's Hospital, Catholic University Medical College. Out of 150 completed the ASQ, 67 who were born term and had no previous diagnosis of developmental delay, congenital anomalies, or neurological abnormalities were enrolled. The cut-off values of less than 2 standard deviations (SD) below the mean for the ASQ were used to define a "fail", and children who failed in one or more domains tested were classified as "screen-positive". Diagnosis of developmental delay was made when the developmental indices fell below -1 SD of the Bayley Scales of Infant Development-II. Results : (1) The mean age of children was $16.4{\pm}7.4$ months. Ten children (14.9%) were small-for- gestational age infants. The mean birth weight and gestational age were $3.1{\pm}0.6kg$ and $38.8{\pm}1.4$ weeks. Nine children (13.4%) were twins and 33 (49.0%) were male. The mean maternal education in years was $13.6{\pm}2.4$, and 31.3% had full-time jobs. The time for completing the ASQ was $10.2{\pm}3.0$ minutes. (2) Seventeen children (25.4%) were classified as screen-positive, four of them were delayed in development. Among eight children diagnosed with developmental delay, four were screen-positive and the other four were screen-negative by the ASQ. (3) The test characteristics of the ASQ were as follows: sensitivity (50.0%); specificity (78.0%); positive predictive value (23.5%); negative predictive value (92.0%). Conclusion : The high negative predictive value of the K-ASQ supports its use as a screening tool for developmental delay in the setting of a pediatric outpatient clinic.

• Proceedings of the Korean Society of Developmental Biology Conference
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• 2005.07a
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• pp.49-49
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• 2005