• Journal of the Korea Academia-Industrial cooperation Society
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• v.15 no.7
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• pp.4198-4211
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• 2014

The purpose of this study was to integrate the general education activities in the preschool developmental delay regarding the effect on the social skills of infant and young children. The participants of this research were young children with a developmental delay, who were enrolled in a school for the physically challenged in Gim-Hae City, South Kyongsangnamdo in Korea. An experimental qualitative module was selected to observe the social consequences after taking the extensive educational programs on young children with a developmental delay. The data was based on the observations of a researcher regarding the child's behavior and videotaped material was analyzed qualitatively in terms of the occasions and their social behaviors while extensive education was performed. The qualitative analysis explains the lower arena of the learning social skill including the quantitative changes in the communicational skill, and self-control skills.

• 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.

• Therapeutic Science for Rehabilitation
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• v.11 no.3
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• pp.81-92
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• 2022

Objectives : This study aimed to investigate the effect of beat-keeping games in smartphone applications on improving executive functions in children with developmental delays. Methods : Three children diagnosed with developmental delay were included in this study. The ABA design used a single-subject experimental research design. The independent variable was the beat-keeping game. The game was held three times a week for a total of seven times for 20 minutes, including breaks. The dependent variable, "Visual-motor speed," was measured every session to assess if the beat-keeping game was effective in improving the participant's executive function. Further, before and after the intervention, "Children's Color Trails Test (CCTT)", "Block design," and "Finding hidden picture" were measured. Results : All three participants showed improvement in the performance of the beat-keeping game and the executive functions of "Visual-motor speed" and visual attention. Conclusions : Based on the results of this study, various effective applications for learning and intervention can be developed and applied to children with developmental delays who have difficulty in motivating themselves and lack attention.

• Clinical and Experimental Pediatrics
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• v.59 no.sup1
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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.

• Journal of Genetic Medicine
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• v.11 no.2
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• pp.79-82
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• 2014

Mowat-Wilson syndrome is an extremely rare genetic disease that is characterized by intellectual disability, facial dysmorphism, Hirschsprung's disease, and other congenital anomalies. This disorder is caused by heterozygous mutations or deletions in the zinc finger E-box-binding homeobox-2 gene (ZEB2). Thus far, approximately 200 cases of Mowat-Wilson syndrome have been reported worldwide. In Korea, only one case with a 2q22 deletion, which also affects ZEB2, has been previously reported. Here, we describe a patient with Mowat-Wilson syndrome who presented with developmental delays, typical facial dysmorphism, and Hirschsprung's disease. Molecular analysis of ZEB2 identified a novel heterozygous mutation at c.190dup ($p.S64Kfs^*6$). To our knowledge, this is the second report of a Korean patient with Mowat-Wilson syndrome that has been confirmed genetically.

• 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.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.33 no.1
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• pp.16-23
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• 2022

Objectives: Early detection of developmental issues in infants and necessary intervention are important. To identify the comorbid conditions, a comprehensive evaluation is required. The study's objectives were to 1) generate scale items by identifying and eliciting concepts relevant to young children (12-71 months) with developmental delays, 2) develop a comprehensive screening tool for developmental delay and comorbid conditions, and 3) assess the tool's validity and cut-off. Methods: Multidisciplinary experts devised the "Infant Comprehensive Evaluation for Neurodevelopmental Delay (ICEND)," an assessment method that comes in two versions depending on the age of the child: 12-36 months and 37-71 months, through monthly seminars and focused group interviews. The ICEND is composed of three parts: risk factors, resilience factors, and clinical scales. In parts 1 and 2, there were 41 caretakers responded to the questionnaires. Part 3 involved clinicians evaluating ten subscales using 98 and 114 questionnaires for younger and older versions, respectively. The Child Behavior Checklist, Strengths and Difficulties Questionnaire, Infant-Toddler Social Emotional Assessment, and Korean Developmental Screening Test for Infants and Children were employed to analyze concurrent validity with the ICEND. The analyses were performed on both typical and high-risk infants to identify concurrent validity, reliability, and cut-off scores. Results: A total of 296 people participated in the study, with 57 of them being high-risk (19.2%). The Cronbach's alpha was positive (0.533-0.928). In the majority of domains, the ICEND demonstrated a fair discriminatory ability, with a sensitivity of 0.5-0.7 and specificity 0.7-0.9. Conclusion: The ICEND is reliable and valid, indicating its potential as an auxiliary tool for assessing neurodevelopmental delay and comorbid conditions in children aged 12-36 months and 37-71 months.

• The Journal of Korean Academy of Sensory Integration
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• v.21 no.3
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• pp.54-64
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• 2023

Objective : This study aims to ascertain the effect of oral activity and sensory integration therapy on drool and play using oral toys in children with developmental delays. Methods : The participants of the study were two children (2 years and 8 months) experiencing developmental delays with sensory modulation problems in their oral sensory faculties. The research design was multi-baseline design cross-subjects among single-subject research ABA. Target behaviors were measured by drooling and interest and concentration in play using oral toys through the Goal Attachment Scale (GAS). In the 10 sessions that the children underwent during the intervention period (B), oral activity and proprioception-vestibular sensory integration therapy were applied. Results : The GAS of drooling improved from 0.25 for child A and -0.5 for child B during the baseline to 1.88 for child A and 1.4 for child B during the intervention period. The follow-up was 3 for both child A and child B. Meanwhile, the GAS of play during the baseline was -0.75 for child A and 0.75 for child B, and 1.9 for child A and 1.1 for child B during the intervention period. The follow-up was 1.33 for child A and 2 for child B. Conclusion : Oral activity and proprioceptive-vestibular sensory integration therapy are effective in drooling and playing with oral toys in children with sensory modulation problems in their oral sensory faculties.

• 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.

• Clinical and Experimental Pediatrics
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• v.59 no.12
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• pp.483-489
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• 2016

Purpose: We investigated the number of test takers of the Korean-Developmental Screening Test (K-DST) in a single children's hospital within a year, according to age, referral rate, and follow-up percentage. Methods: For this study, 4,062 children who visited and received K-DST at Woorisoa Children's Hospital between January and December 2015 were enrolled. Seven test sets were used according to the Korean National Health Screening Program for infants and children in the following age groups: 4 to 6, 9 to 12, 18 to 24, 30 to 36, 42 to 48, 54 to 60, and 66 to 71 months. The results of the K-DST were categorized into 4 groups as follows: further evaluation (<-2 standard deviation [-2SD]), follow-up test (-2SD to -1SD), peer level (-1SD to 1SD), and high level (>1SD). Results: The test participants' population and follow-up population were concentrated before the age of 24 months (2,532, 62.3%). The children most commonly referred for further evaluation were those in the 30- to 41-month age group. A mismatch was found between the results of the K-DST and the additional questions. Most of the infants and children with suspicious developmental delays showed catch-up development in their follow-up tests (43 of 55, 78.2%). Conclusion: The use of K-DST should be encouraged, especially among children aged over 24 months. Multiple-choice question format for the additional questions is recommended to avoid confusion. We suggest a nationwide study to evaluate and revise the K-DST.