• Journal of the Korean Applied Science and Technology
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• v.36 no.4
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• pp.1385-1398
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• 2019

This study was a survey study to provide the base data necessary to prepare efficient management plans for the mothers with disabled children by type, comparing degrees of disability acceptance, stress, coping method and wellness between mothers with physical functional disordered children and developmental disordered children. The study subjects were a mother who raises disordered children. Data collection was conducted from October 2018 to April 2019, and differences between the two groups were analyzed as t-test, ANOVA, and Pearson correlation. In results, Studies have shown that there are differences between the two groups as mothers with physical functional disordered children and mothers with developmental disordered children as degrees of disability acceptance, stress, treatment and wellness. Disability acceptance and coping method of mothers with physical functional disordered children (r=0.23, p=.033), disability acceptance and Wellness (r=0.51, p<.001) have shown positive correlations and disability acceptance and stress (r=-0.72, p<.001) have shown negative correlations. Disability acceptance and wellness (r=0.40, p<.001) of the mother with a developmental disordered child have shown a significant positive correlation, and disability acceptance and stress (r=-0.71, p<.001) have shown a significant negative correlations. The higher the degree of disability acceptance, the lower the stress level and the higher the coping method and wellness mothers with physical functional disordered children had. The higher disability acceptance, the lower stress degrees and the higher wellness degrees mothers with developmental disordered children had. In order to improve disability acceptance by mothers with physical functional disordered children, it was necessary to improve both coping methods and wellness with stress reducing strategy, while the mother with developmental disordered children were needed strategies to reduce stress and improve wellness.

• Korean Journal of Child Education & Care
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• v.19 no.1
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• pp.159-174
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• 2019

Objective: The study wanted to find out what changes the mother, who is the main parent of the severely disabled children, experienced in their lives through the use of day hospitals and child care services, and what difficulties they had, and discussed policy practical improvements that could satisfy both the medical and developmental needs of the severely disabled. Methods: The participants of the study were 9 mothers of a child with severe disabilities who had experience using hospitals and kindergarten. They were recruited by snowball sampling method. Focus group interview and individual interview were conducted. Results: As a result of the analysis, the mother of severely handicapped child gradually began to seek the balance of life as her child grew and became aware of the institution other than the day hospital. - (e.g) Although I was distracted and worried for the first time, I was gradually adjusting to the time away from my child thinking positively. Children with severe disabilities were also positively influenced by various experiences. They become to show som positive behavior or feeling such as brightening facial expressions or smile as they were using daycare centers or kindergartens in addition to daytime hospitals. Conclusion/Implications: Through the results of this study, comprehensive policy proposals on child care, welfare, and medical care were discussed.

• 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.