• Journal of Genetic Medicine
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• v.19 no.2
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• pp.94-99
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• 2022

Lesch-Nyhan disease (LND) is a rare X-linked recessive inherited purine metabolic disorder that accompanies neurodevelopmental problems. Neurofibromatosis type 1 (NF1) is a relatively common autosomal dominant inherited genetic disorder characterized by tumors in various systems. Some children with NF1 also accompanies neurodevelopmental problems. Here, we describe a 5-year-old boy with a maternally inherited pathogenic variant in NF1 and hypoxanthine-guanine phosphoribosyltransferase (HPRT). He was referred for severe neurodevelopmental impairment and hyperuricemia. His mother was diagnosed with NF1 and the patient was also suspected of having NF1 because of cafe au lait macules. He had dystonia, rigidity, cognitive deficit, and speech/language impairment. Serum and urine uric acid concentrations were elevated. He had more severe neurodevelopmental delay than patients with only NF1, so his clinical symptoms could not be fully understood by the disease alone. To find the cause of his neurologic symptoms and hyperuricemia, the patient and his mother underwent a whole-exome sequencing test. As a result, the pathogenic variant c.151C>T (p.Arg51Ter) in HPRT1 was identified as hemizygote in the patient and heterozygote in his mother. The pathogenic variant c.7682C>G (p.Ser2561Ter) in NF-1 was identified as heterozygotes in both of them. Although the clinical symptoms of both diseases were overlapping and complicated, genetic testing was helpful for accurate diagnosis and treatment. Therefore, we suggest to consider preemptive genetic evaluation if there are symptoms not sufficiently explained by known existing diseases. And it is considered valuable to review this rare case to understand the clinical course and possible synergic effects of these diseases.

• Journal of Agricultural Extension & Community Development
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• v.30 no.1
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• pp.1-13
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• 2023

This study aims to examine the effect of healing program using insect. For the insect resources, the program uses 3 species of emotional insects. The subjects were a total of 29, the elderly with mild dementia and adults with developmental disabilities in the facility. The activities are 9 programs in total and each program takes 2 hours once a week. For data collection, we measured a blood pressure, stress level using autonomic nervous system activity, and scale of happiness, depression and insomnia by a survey. The datas were collected every week before and after the program. As a result of paired-sample t-test analysis, the participants of the agro-healing program using insects had positive effects as follows: reducing a depression, relieving a symptom of insomnia and stabilizing a blood pressure. Through the results of this study, it was possible to confirm the positive effects of the agro-healing program using insects. If farms lead agro-healing program using insects on their own, it could be expected to contribute to improve the quality of life through agriculture as well as to improve the farms' income.

• KSII Transactions on Internet and Information Systems (TIIS)
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• v.17 no.4
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• pp.1216-1233
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• 2023

Conventional occupational therapy (OT) is conducted under the observation of an occupational therapist, and there are limitations in measuring and analyzing details such as degree of hand tremor and movement tendency, so this important information may be lost. It is therefore difficult to identify quantitative performance indicators, and the presence of observers during performance sometimes makes the subjects feel that they have to achieve good results. In this study, by using the Unity3D and artificial intelligence (AI) speaker, we propose a system that allows the subjects to steadily use it by themselves and helps the occupational therapist objectively evaluate through quantitative data. This system is based on the OT of the sensory integration approach. And the purpose of this system is to improve children's activities of daily living by providing various feedback to induce sensory integration, which allows them to develop the ability to effectively use their bodies. A dynamic OT cognitive assessment tool for children used in clinical practice was implemented in Unity3D to create an OT environment of virtual space. The Leap Motion Controller allows users to track and record hand motion data in real time. Occupational therapists can control the user's performance environment remotely by connecting Unity3D and AI speaker. The experiment with the conventional OT tool and the system we proposed was conducted. As a result, it was found that when the system was performed without an observer, users can perform spontaneously and several times feeling ease and active mind.

• The Journal of Korean society of community based occupational therapy
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• v.7 no.3
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• pp.23-34
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• 2017

Objective : The purpose of this study was to investigate establishment status of the mandatory courses designated by Ministry of Health & Welfare for qualification of sensory developmental rehabilitation specialist(SDRS), within curriculum of baccalaureate occupational therapy(BOT) programs in Korea Methods : This is a narrative study to investigate and analyze certain courses established in curriculums of all 4-years occupational therapy(OT) programs, which is 32 schools. Results : 1) The shared mandatory subject, 'Understanding Children with Disabilities(UDC)', has been established at 9 schools. For the branch mandatory subjects, 'Neuroscience(NS) or Neuroanatomy' has been established at all 32 schools, 'Sensory Processing Dysfunctions and Intervention(SPDI)' or 'Sensory Integration' has been established at 31 schools, and each of 'Assessment & Evaluation for Children(AEC)' and 'Practicum of Sensory Rehabilitation(PSR)' has been established 7 schools for same. 2) For the mandatory courses, all 32 schools were offering designated- and alternative courses of NS, SPDI, AEC, but there was no change in the number of schools offering the practicum course since there was no case of alterative for it. 3) In terms of general provision score, there were 4 schools for score 7, 4 schools for score 6, 2 schools for score 5, 1 schools for score 4, 2 schools for score 3, and 19 schools for score 2. Conclusion : Establishment of the mandatory courses required to the qualification of SDRS among the BOT programs in nation were investigated. Including alternative courses, all the branch mandatory courses except practicum course are established in all the 32 schools. However, the shared mandatory subject, UDC and the practicum subject were established in only few schools. In the provision level evaluation of BOT programs for the SDRS qualification, it is shown that many schools has been started the provision already but still many schools' curriculum did not reflect the willingness and accuracy well. For the schools planning successful accreditation in near future, it is recommended that they prioritize the establishment of the shared mandatory course and the practicum course since these two subjects are recognized as critical factors for that. In addition, it is also needed of comparative inspections for course title and syllabi based on the guideline provided by Ministry of Health & Welfare.

• Clinical and Experimental Pediatrics
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• v.50 no.11
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• pp.1067-1071
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• 2007

Purpose : The aim of this study was to determine whether improved survival of extremely low birth weight infants (ELBWI) was associated with decreased neurodevelopmental disability later in life, and also to identify the factors influencing this disability. Methods : ELBWI admitted to the neonatal intensive care unit of Samsung Medical Center, survived, and followed up until the corrected age of 18 months were enrolled. They were divided into two groups according to admission time: period I (1994-1999, n=36) and period II (2000-2004, n=98). Clinical data were collected retrospectively from the medical records. Results : Survival rates increased from 60.0% to 74.7%, cerebral palsy rates decreased from 22.2% to 8.2% and catch-up growth rate increased from 25.0% to 51.0% during period I and II. Despite less gestational age and birth weight, ELBWI during period II had less periventricular leukomalacia (PVL), sepsis and bronchopulmonary dysplasia compared to period I. The highest risk factors for cerebral palsy were intraventricular hemorrhage (IVH) (${\geq}$Grade III), failure of catch-up growth and PVL. Conclusion : In summary, improved viability was associated with decreased neurodevelopmental disability in ELBWI. Improved neonatal care with resultant decrease in PVL and IVH, and better nutritional support seem to be primarily responsible for this improved outcome.

• The Journal of Korea Assosiation for Disability and Oral Health
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• v.8 no.1
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• pp.10-14
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• 2012

Self-injurious behavior (SIB) has been defined as the deliberate destruction or alteration of body tissue without conscious suicidal intent. It occurs in conjunction with a variety of psychiatric disorders as well as various developmental disabilities and some syndromes. The behavior is destructive and causes concern and distress to all involved in the care and treatment of the affected individual. A 13-year-old girl with autism, mental retardation and delayed development was reffered from her pediatrician because of severe and painful lower lip biting. An intraoral examination revealed a diffuse swelling of lower lip. It was covered with necrotic slough and the ulcer and scarring of the lower lip was observed. We chose to use an oral removable prosthesis for Conservative treatment. It was decided to use a soft silicone mouthguard in the maxillary arch. Initially, she could not tolerate the appliance inside her mouth but soon adapted with the appliance. After one month, she lost the mouth guard and started lip biting. So we made mouth guard again. There are no standard methods for preventing self-injurious behavior in a patient who is developmentally disabled. Appropriate preventive methods must be developed for each individual patient based on close observation and clinical findings. Behavior modification techniques, pharmacological treatment, extraction of teeth, orthognathic surgery and intra/extra oral appliances can be performed for adjust self-injurious behavior. A suitable oral guard could be tried initially before employing more invasive approaches.

• Journal of Music and Human Behavior
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• v.8 no.1
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• pp.61-81
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• 2011

This study conducted a survey of 117 music therapy graduate students from four schools in their second through fifth semester who have sufficient clinical training experience to form a basis for satisfactory clinical training. The result shows that the respondents reported their highest satisfaction levels with their course and curriculum (3.78), followed by supervision (3.75) and clinical training (3.65). In general, students who did not major music as undergraduates showed higher satisfaction levels. The satisfaction level of students in the earlier stages of clinical training is generally high. However, it gradually decreases as they move to more advanced stages, and increases somewhat during the internship training period. The supervisor's role was a decisive factor in reported levels of satisfaction with supervision and clinical training, and the music therapy element was a decisive factor on the course and curriculum satisfaction level, This survey is meaningful as it paves the way for the development of more satisfactory clinical training, and offers important guidelines to students in terms of the kinds of talents and characteristics they should develop.

• The Journal of the Korea Contents Association
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• v.20 no.10
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• pp.89-99
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• 2020

In this study, we tried to produce moving-image works through sentiment analysis of music. First, Google natural language API was used for the sentiment analysis of lyrics, then the result was applied to the image visualization rules. In prior engineering researches, text-based sentiment analysis has been conducted to understand users' emotions and attitudes by analyzing users' comments and reviews in social media. In this study, the data was used as a material for the creation of artworks so that it could be used for aesthetic expressions. From the machine's point of view, emotions are substituted with numbers, so there is a limit to normalization and standardization. Therefore, we tried to overcome these limitations by linking the results of sentiment analysis of lyrics data with the rules of formative elements in visual arts. This study aims to transform existing traditional art works such as literature, music, painting, and dance to a new form of arts based on the viewpoint of the machine, while reflecting the current era in which artificial intelligence even attempts to create artworks that are advanced mental products of human beings. In addition, it is expected that it will be expanded to an educational platform that facilitates creative activities, psychological analysis, and communication for people with developmental disabilities who have difficulty expressing emotions.

• Journal of the Korean Society of Food Culture
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• v.35 no.3
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• pp.241-255
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• 2020

This study examined the eating habits and preferences of foods according to the age of children with autism spectrum disorders and identified the nutritional needs of parents to support their healthy eating habits and provide basic data for the development of educational programs. A survey of 100 parents of children with autism spectrum disorders was conducted on their children's snack intake, food preferences, and parents' nutrition education needs. As a result, there were four times more boys than girls, and the body mass index differed according to age (p<0.001). Most children ate snacks more than once a day, and parents found that they wanted to develop nutritious snacks that could replace high-protein, low-calorie meals with the minimal use of additives. For the food preference, there was a significant difference in grains and starches, vegetables/seafood and fruits, milk and dairy products (p<0.05), fats and sugars, and Korean fermented pastes (p<0.01) between the two age groups. Regarding whether nutrition education was required, many parents had a high demand for nutrition education (4.24±0.70), and the intention to participate was 3.62±1.09. The most important content to be dealt with in parent education was 'Inducing a change in bad eating habits and behaviors', which was the highest (63%), and mostly face-to-face education was preferred. In conclusion, young children require diet education, and older children need to focus on weight control and obesity.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.28 no.4
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• pp.220-227
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• 2017

Objectives: The purpose of this study was to examine the reliability and validity of the Korean version of the Behavior Problems Inventory (BPI-01) among children and adolescents aged between 3 and 18. Methods: The control group consisting of one hundred children and adolescents was recruited from schools and the patient group consisting of forty one children and adolescents with autism spectrum disorder were recruited from a hospital. We compared the measurements of both groups. To assess the concurrent validity of the BPI-01, we compared the problem behavior index of the Korean Scale of Independent Behavior-Revised (K-SIB-R) and, to assess the discriminant validity, we compared the Korean version of the Child Behavior Checklist (K-CBCL). The Cronbach's alpha of the BPI-01 was measured to assess its reliability. Correlation analyses between the BPI-01 and the other scale were carried out to examine the former's concurrent and discriminant validity. Results: The patient group showed a significantly higher score for all three subscales of the BPI than the control group. The Cronbach's alpha was 0.92 for the total severity score of the BPI and ranged between 0.67-0.89 for each subscale in the patient group. All subscales of the BPI-01's, i.e., self injurious behavior, stereotyped behavior and aggressive/destructive behavior, were significantly correlated with the corresponding subscales of the K-SIB-R. The BPI-01 generally did not demonstrate any significant correlation with emotional items such as anxiety/depression in the K-CBCL. Especially, the BPI-01's stereotyped behavior subscale showed little correlation with externalizing behaviors such as social problems and aggressive behaviors. Conclusion: This study found that the Korean version of BPI-01 is a reliable and valid behavior rating instrument for problem behavior in developmental disabilities among children and adolescents.