• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.22 no.2
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• pp.120-127
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• 2011

Objectives:The purpose of this study was to verify discriminant validity and the clinical cutoff score of Child Behavior Checklist 1.5-5 in the diagnosis of developmental delayed infants. Methods:The participants were screened by Denver II which includes 156 developmental delayed infants and 288 normal infants. Chi-squared test, t-test, ROC curve analysis, odds ratio analysis were performed on the data. Results:Only 47 items out of 99 items among the CBCL 1.5-5 of total groups, 36 items of boys and 48 items of girls, discriminated developmental delayed infants well. Discriminant validity was confirmed by mean differences on the subscales of Withdrawn, Sleep Problems, Attention Problems, Internalizing Problems, Externalizing Problems, Total Problems, DSM Pervasive Developmental Problems and DSM Attention Deficit/Hyperactivity Problems between the two groups. Additionally, ROC analyses demonstrated that Withdrawn, Attention Problems, Internalizing Problems, Total Behavior Problems and DSM Pervasive Developmental Problems significantly predicted developmental delayed infants compared to normal infants. Also, the clinical cutoff score criteria adopted in the Korean CBCL 1.5-5 for subscales of Withdrawn, Attention Problems, Internalizing Problems, Total Behavior Problems and DSM Pervasive Developmental Problems were shown to be valid. Conclusion:The subscales of Withdrawn, Attention Problems, Internalising Problems, Total Behavior Problems and DSM Pervasive Developmental Problems significantly discriminated in the diagnosis of developmental delayed infants well.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.15 no.3
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• pp.147-154
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• 2015

Purpose: 3HB and AcAc are two ketone bodies that can be used as energy source in brain via succinyl-CoA:3-ketoacid CoA transferase (SCOT) and mitochondrial acetoacetyl-CoA thiolase (beta-ketothiolase, T2), called ketolysis. In case of malfunction of these enzymes, ketolysis cannot occur fluently causing various clinical manifestations. We want to know the numbers of patients and clinical manifestations of ketolytic defects in Korea. Material: For 67 patients of ketolytic defects out of 2794 patients that have done urine organic acid analysis, we analyzed clinical manifestations and age distribution. The study period was from January 2007 to September 2015. Method: To confirm persistency of ketonuria, repeated and loading organic acid analysis were done at least 1 week period interval. SPSS was used for statistical analysis. Result: Thirty patients in infantile period (2 M-2 Y), 31 patients in childhood period (2 Y-12 Y), 5 patients after adolescent period (>12 Y) and 1 in neonatal period were diagnosed during the study period. The most frequent chief complaint was seizure followed by seizure with developmental delay and developmental delay only. Conclusion: Ketolytic defects were not so rare in Korea. Major clinical manifestations are seizure and developmental delay or mental retardation.

• Journal of the Korean Child Neurology Society
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• v.26 no.4
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• pp.272-275
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• 2018

KBG syndrome is a rare neurodevelopmental disorder characterized by intellectual disability, skeletal anomalies, short stature, craniofacial dysmorphism, and macrodontia. ANKRD11 gene mutation and 16q24.3 microdeletion have been reported to cause KBG syndrome. Here, we report two patients with ANKRD11 mutations who initially presented with neurologic symptoms such as developmental delay and seizures. Patient 1 was a 23-month-old boy who presented with a global developmental delay. Language delay was the most dominant feature. He had hypertelorism, hearing impairment, and behavior problems characterized as hyperactivity. A c.1903_1907delAAACA (p.Lys635GInfsTer26) mutation in ANKRD11 was identified with diagnostic exome sequencing. Patient 2 was a 14-month-old boy with developmental delay and seizure. He also had atrial septum defect, and ventricular septal defect. Generalized tonic seizures began at the age of 8 months. Electroencephalography showed generalized sharp and slow wave pattern. Seizures did not respond to antiepileptic drugs. A loss of function mutation c.5350_5351delTC (p.ser1784HisfsTer12) in ANKRD11 was identified with diagnostic exome sequencing. In both cases, characteristic features of KBG syndrome such as short stature or macrodontia, were absent, and they visited the hospital due to neurological symptoms. These findings suggest that more patients with mild phenotypes of KBG syndrome are being recognized with advances in diagnostic exome sequencing genetic technologies.

• The Journal of Korean Academy of Sensory Integration
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• v.19 no.1
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• pp.1-12
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• 2021

Objective : The purpose of this study was to investigate the effects of paired-group sensory integration therapy on sensory processing, peer interaction, and play development of four-year-old children. Methods : This study involved 13 weekly sessions of a four-minute intervention as well as an initial 10 minutes of parental counseling for those without experience of paired-group sensory integration therapy. The intervention consisted of sensory processing activities and various occupational activities, and the children's Short Sensory Profile (SSP), Penn Interactive Peer Play Scale (PIPPS), and Knox Preschool Play Scale-Revised (KPPS-R) were measured before and after the sessions for comparison. The results are presented using visualized data. Results : After the paired-group interventions, all subjects showed improved sensory processing ability according to their SSP scores and improved play development on the KPPS-R. Moreover, the frequency of negative interactions decreased in the PIPPS measure. Conclusion : This paired-group sensory integration therapy had a positive effect on sensory processing, peer interaction, and play for children with developmental delay. In the future, research that applies this kind of paired-group intervention in various age groups would be useful.

• Clinical and Experimental Pediatrics
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• v.59 no.1
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• pp.16-23
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• 2016

Purpose: The 1p36 deletion syndrome is a microdeletion syndrome characterized by developmental delays/intellectual disability, craniofacial dysmorphism, and other congenital anomalies. To date, many cases of this syndrome have been reported worldwide. However, cases with this syndrome have not been reported in Korean populations anywhere. This study was performed to report the clinical and molecular characteristics of five Korean patients with the 1p36 deletion syndrome. Methods: The clinical characteristics of the 5 patients were reviewed. Karyotyping and multiplex ligation-dependent probe amplification (MLPA) analyses were performed for genetic diagnoses. Results: All 5 patients had typical dysmorphic features including frontal bossing, flat right parietal bone, low-set ears, straight eyebrows, down-slanting palpebral fissure, hypotelorism, flat nasal roots, midface hypoplasia, pointed chins, small lips, and variable degrees of developmental delay. Each patient had multiple and variable anomalies such as a congenital heart defect including ventricular septal defect, atrial septal defect, and patent duct arteriosus, ventriculomegaly, cryptorchism, or hearing loss. Karyotyping revealed the 1p36 deletion in only 1 patient, although it was confirmed in all 5 patients by MLPA analyses. Conclusion: All the patients had the typical features of 1p36 deletion. These hallmarks can be used to identify other patients with this condition in their early years in order to provide more appropriate care.

• The Journal of Korean Academy of Sensory Integration
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• v.19 no.3
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• pp.1-12
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• 2021

Objective : The purpose of this study was to investigate the effect of the environmental enrichment therapy (EET) program on the task performance and sensory processing of children with delayed development. Methods : This study was conducted with a single-subject ABA research design for two children with developmental delay findings, and intervention was conducted 7 times a week for 4 weeks. Both children confirmed changes in task performance and sensory processing after intervention. Results : After intervention, task performance improved from an average of 200% to a maximum of 354% compared to the baseline period, and the score in the sensory processing area, which affects tactile processing, emotional response, and activity level, was improved to the normal category. Conclusion : Through this study, it was confirmed that the EET program was effective in performing tasks and sensory processing for children with developmental delays, and its usefulness was confirmed as a program that can be implemented at home.

• Therapeutic Science for Rehabilitation
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• v.13 no.1
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• pp.75-86
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• 2024

Objective : The purpose of this study was to examine the effects of an occupational therapy program on the school readiness, focusing on adaptation skills and daily life skills, in children with developmental delays. Methods : The study involved a boy with developmental delay, aged 5 years and 8 months. The program was conducted twice a week, with a total of 8 sessions spread over 4 weeks. The Canadian Occupational Performance Measure (COPM) was employed, targeting class preparation and use of the toilet. Pre-post tests and follow-up evaluations were carried out to compare changes. Data analysis involved video recordings of the subject's performance. Results : The COPM results indicated improvements in both the performance and satisfaction levels for class preparation and toilet use. Processing skills showed seven improvements in class preparation and eight improvements in toilet use during post-testing. Activity performance observations further confirmed improvements in both class preparation and toilet use during post-test and follow-up evaluations. Conclusion : Occupational therapy improves school readiness (adaptation skill, daily living activity skill) for children with developmental delays, and has a positive effect on overall school readiness.

• Physical Therapy Korea
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• v.6 no.2
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• pp.77-86
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• 1999

Developmental dysplasia or dislocation of the hip is the most pronounced form of a condition in which the femoral heads tends progressively to leave the acetabulum. In the young child the variability of findings and course suggest a spectrum of conditions in which there are a number of common features: restriction of movement, particularly of abduction in flexion; shortening; and abnormal radiology, including a sloping or dysplastic acetabulum and delay in the appearance of the upper femoral epiphysis. It is vital to make the diagnosis of a congenital dislocation as soon after birth as possible. Conservative treatment with an abduction brace before the child run begins to walk is completely adequate, but after the age of 4 even surgical repositioning is difficult and after the age of 7 it is almost impossible. The aim of the study was to gain insight into the value of physical therapy of developmental dysplasia or dislocation after operation.

• Korean Journal of Environmental Biology
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• v.22 no.2
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• pp.321-328
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• 2004

The effects of Di (2-ethylhexyl) phthalate (DEHP) on the fourth instar larvae of Chironomus riparius were tested in the laboratory. Employing a waterreplacement exposure setup, chironomids were subjected to various concentrations. In the most treatments mortality reached a statistically significant difference from the control conditions. As DEHP concentrations were increased, the rates of emerged adults decreased. Sex ratio was unaffected with little deviation from a 1:1 relationship (except in 1 and $30\mu{g}\;L^{-1})$. The developmental stages was delayed at low concentration (0.3 and $1\mu{g}\;L^{-1})$. Generally the emergent period was different between males and females, and the first emergent day of males was faster than females. The body shape of female adults was larger than males. Differences between males and females were found in body volume, body length and body width. In addition, the body volume showed the significant difference between controls and treatments, and those especially well observed females.

• Molecules and Cells
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• v.42 no.6
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• pp.441-447
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• 2019

RAS gene mutations are frequently found in one third of human cancers. Affecting approximately 1 in 1,000 newborns, germline and somatic gain-of-function mutations in the components of RAS/mitogen-activated protein kinase (RAS/MAPK) pathway has been shown to cause developmental disorders, known as RASopathies. Since RAS-MAPK pathway plays essential roles in proliferation, differentiation and migration involving developmental processes, individuals with RASopathies show abnormalities in various organ systems including central nervous system. The frequently seen neurological defects are developmental delay, macrocephaly, seizures, neurocognitive deficits, and structural malformations. Some of the defects stemmed from dysregulation of molecular and cellular processes affecting early neurodevelopmental processes. In this review, we will discuss the implications of RAS-MAPK pathway components in neurodevelopmental processes and pathogenesis of RASopathies.