• Journal of the Korean Applied Science and Technology
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• v.38 no.2
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• pp.497-510
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• 2021

The purpose of this study is to investigate the mediating effect on intellectual wellness between the physical and emotional wellness of the caregivers of children with disabilities and to provide the relevant data necessary for the response of the caregivers of disabled children. The study subjects were 177 caregivers of children with disabilities, and data were collected from June 2019 to November 2019. Data analysis was performed using the PROCESS macro. Independent sample t-test and one-way batch analyses were conducted to analyze the general characteristics and variables of the collected data. Through this, Scheffé's post-test was performed for variables with statistically significant differences. The relationship between variables was analyzed by Pearson correlation and hierarchical multiple accounting analyses. The results of the study indicate that the physical and intellectual wellness of the main caregivers of children with disabilities provide a direct effect on their emotional wellness as well, and that intellectual wellness provides a mediating effect between physical wellness and emotional wellness. It was found that the influence of the physical environment of children with disabilities is also important, but emotional wellness can be improved only when the main caregivers are provided with an appropriate and sufficient intellectual education. Therefore, the expansion of various educational programs for the main caregivers of children with disabilities could contribute to the improvement of their own overall wellness.

• The Journal of the Korea Contents Association
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• v.20 no.8
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• pp.448-465
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• 2020

This study analyzed the effect of self-determination of the intellectually disabled on the quality of life, focusing on the effect of controlling family functions, with the intellectually disabled as the subject of the study. In order to achieve this goal, it was designated as an intellectual disabled person at the early age of 18 to 25 who were diagnosed with intellectual disabilities, and it was selected as a disabled person living in the community, and it selected major welfare institutions that were most frequently used by people with intellectual disabilities in the early age of 20 years, considering the difficulties of conducting the survey. The research results are as follows. First, "self-determination, psychological capacity, and self-realization" of the intellectually disabled were found to affect the quality of life (physical well-being, physical well-being, social well-being, productive activities and development, psychological and emotional well-being). Second, differences in "self-determination (self-reliance, psychological capacity, self-realization)" did not occur in accordance with the "population statistical. Third, differences occurred in the "quality of life (physical well-being, physical well-being, social well-being, productive activities and development, psychological and emotional well-being" of the intellectually disabled. Fourth, the relationship between "self-determination" and "quality of life" of the intellectually disabled resulted in the adjustment effect of family functions. This study is meaningful in that it demonstrated the service practice that should be provided to people with early adult intellectual disabilities in the field of practice by verifying the relationship between self-determination, family function and quality of life viewed from the perspective of the parties.

• Journal of the Korean Data and Information Science Society
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• v.23 no.6
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• pp.1145-1154
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• 2012

Recent research has been mostly focused on the differences of prenatal sex hormone could affect the ratio of the lengths of the second to fourth digits (2D:4D) as well as the rate of several physiological characteristics. It has been suggested that digit ratios are thought to be associated with either higher prenatal testosterone levels or greater sensitivity to androgens, or both. However, a study of person with disabilities are rare in Korea. The purpose of this study was to compare patterns of the ratio (2D:4D) of the lengths of the second and fourth digits in persons with disabilities and students without disabilities. Also, we empirically analyze the characteristics of persons with disabilities. We found that finger length ratio (2D:4D) of men with disabilities and student without disabilities were lower than women with disabilities and student without disabilities. Therefore, it could be confirmed that finger length ratio (2D:4D) is sexually dimorphic trait. There were no correlations between finger length ratio (2D:4D) and age group in persons with disabilities. Therefore, as with person without disabilities, the 2D:4D ratio was negatively associated with a growth process of persons with disabilities. Finally, There was no difference correlations between finger length ratio (2D:4D) and level of disability in persons with intellectual disabilities. From this, one possible explanation for this is that if finger length ratio (2D:4D) is related to person with disability then current classification of the level of disability deserves further investigation.

• International journal of advanced smart convergence
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• v.9 no.1
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• pp.54-62
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• 2020

According to the Ministry of Health and Welfare, "Status of Registered Persons with Disabilities", the number of people with disabilities is 2,494,460 as of 2015. The lowest rates of children with disabilities were intellectual disabilities (23%) and mental disorders (33.3%). The highest rates of screening were blindness (97%), heart failure (94.4%), and hearing impairment (92.7%). 65.2% of visually impaired people who have already had a disability at the time of marriage, and the remaining 34.8% can be thought to be the cause of high incidence of disability after marriage. 'SID (Seed in the Dark)' project was designed to recapture the visually impaired parent's desire for attachment and the space difficulties of the blind who want to be a normal parent to their children through a visual impairment of a father with 7-year-old daughter. Using Gear VR(Virtual Reality), the general public was able to feel the surroundings as if they had no vision and focused on the hearing. Especially, We expressed the sound wave visually and added the hilarious game element which grasps the terrain of the maze by sound wave like a 'blind person who perceives the surroundings by sound' and catches up with daughter. People with disabilities who are far from mental illness often have a form of family with children. The fact that the rate of childbirth is high means that there is relatively little problem in daily life. It is wondered that the rate of blindness among the visually impaired, which accounts for 10% of the total disabled, is the highest at 97%. This is because, in the case of the visually impaired, the obstacle is often caused by aging, accidents, or diseases due to inherited causes rather than the visual disorder. In particular, However, the fact that there is an obstacle in vision that accounts for 83% of the body's sensory organs causes other difficulties in the nursing process of children who are non-disabled. Parents do not know the face of child when their visual impairment is severe. Parents are extremely anxious about worry that they will be lost or abducted if their children are not by their side. And that the child recognizes the disability of his or her parents other than the other parents easily and takes it as a deficiency. Since visually impaired parents are mentally mature parents with non-disabled people, they may want their children not to feel deprived of their disability. The number of people with visual impairments has been increasing since 2001, and people with impairments often become disabled. In addition, there is much research on the problem of nondisabled parents who have children with disabilities, while there is relatively little interest and research on the problem of nondisabled child rearing of parents with disabilities.

• Journal of Interdisciplinary Genomics
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• v.2 no.1
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• pp.10-12
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• 2020

Coffin-Lowry syndrome (CLS) is a genetic disorder characterized by intellectual disability, typical facial features, and skeletal abnormalities. But this syndrome shows highly variable clinical manifestations, and can't be diagnosed with conventional chromosome analysis or comparative genomic hybridization, leading to delayed diagnosis. Here we report an 18-year-old boy with CLS diagnosed by whole exome sequencing. Our patient initially presented with developmental delay, facial dysmorphism at the age of 1. At the age of 18, he developed orthopnea due to mitral regurgitation. At the 22 years of age, he was diagnosed as CLS diagnosed by whole exome sequencing. Our case implies that clinical suspicion is important for early diagnosis, and advanced diagnostic tools such as WES should be considered in suspected cases.

• Journal of Genetic Medicine
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• v.10 no.1
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• pp.52-56
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• 2013

Mosaic trisomy 14 syndrome is a well-known but unusual chromosomal abnormality with a distinct and recognizable phenotype. Array comparative genomic hybridization (CGH) analysis has recently become a widely used method for detecting DNA copy number changes, in place of traditional karyotype analysis. However, the array CGH shows a limitation for detecting the low-level mosaicism. Here, we report the detailed clinical and cytogenetic findings of patient with low-frequency mosaic trisomy 14, initially considered normal based on usual cut-off levels of array CGH, but confirmed by G-banding karyotyping. Our patient had global developmental delay, short stature, congenital heart disease, craniofacial dysmorphic features, and dark skin patches over her whole body. Estimated mosaicism proportion was 23.3% by G-banding karyotyping and 18.0% by array CGH.

• Journal of mucopolysaccharidosis and rare diseases
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• v.1 no.2
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• pp.40-43
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• 2015

Prader-Willi syndrome (PWS), a complex genetic disorder, arises from suppressed expression of paternally inherited imprinted genes on chromosome 15q11-q13. Characteristics include short stature, intellectual disability, behavioral problems, hypogonadism, obesity, and reduced bone and muscle. The life expectancy of persons with PWS has increased in recent years. Cardiovascular diseases, diabetes, dermatological, and orthopedic problems are common physical complaints in older people with PWS. Behavioral problems are major concerns in adults with PWS into old age. And aging is also associated with significant social and economic changes. Age-related physical morbidity, physical appearance, behavioral and psychiatric problems, functional decline and economic problems can be combined in older PWS. The care for older people with PWS requires a life span approach that recognizes the presence, progression, and consequences of specific morbidity.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.20 no.1
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• pp.65-70
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• 2017

Bannayan-Riley-Ruvalcaba syndrome (BRRS) is one of the phosphatase and tensin homolog hamartoma tumor syndrome with a PTEN gene mutation. It is a rare dominant autosomal disorder characterized by cutaneous lipomas, macrocephaly, intestinal polyps, and developmental delay. Diagnosing this syndrome is important, because it may represent the pediatric phenotype of Cowden syndrome, in which there is an increased risk for malignant tumors in children. Until now, the prevalence of BRRS is unknown. Several dozen cases have been reported in the medical literature, but no case has been reported in Korea. Here we report a case of a 19-year-old girl who was diagnosed with BRRS because of macrocephaly, intellectual disability, and intestinal polyps. Her mother had similar findings and a PTEN mutation. Neither patient had mutations detected by conventional mutation-detection techniques, but a PTEN gene deletion was demonstrated by chromosomal microarray analysis.

• Journal of Dental Anesthesia and Pain Medicine
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• v.17 no.3
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• pp.231-233
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• 2017

Wolf-Hirschhorn syndrome is a rare hereditary disease that results from a 4p chromosome deletion. Patients with this syndrome are characterized by craniofacial dysgenesis, seizures, growth delay, intellectual disability, and congenital heart disease. Although several cases have been reported, very little information is available on anesthetic management for patients with Wolf-Hirschhorn syndrome. We encountered a case requiring anesthetic management for a 2-year-old girl with Wolf-Hirschhorn syndrome. The selection of an appropriately sized tracheal tube and maintaining intraoperatively stable hemodynamics might be critical problems for anesthetic management. In patients with short stature, the tracheal tube size may differ from what may be predicted based on age. The appropriate size ( internal diameter ) of tracheal tubes for children has been investigated. Congenital heart disease is frequently associated with Wolf-Hirschhorn syndrome. Depending on the degree and type of heart disease, careful monitoring of hemodynamics is important.

• Journal of the Korea Society of Computer and Information
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• v.20 no.12
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• pp.121-128
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• 2015

This study was to analyze the employment needs of people with disabilities used Internet Knowledge Search for their employment. The questions related to employment of people with disabilities used Naver's Knowledge-iN Search during the year of 2014 to the year of 2015 were analyzed. The results are the follows. First, people with intellectual disabilities, mental disorders and physical disabilities asked many questions related to employment. Second, most minor disabilities asked many questions related to employment than severe disabilities but exception for people with mental disorders. Third, their's questions related to employment had some different but various according to the types of disabilities. Fourth, their's expected occupation had some different but various according to the types of disabilities. Implications for employment activation of people with disabilities were proposed.