• Journal of the Korea Academia-Industrial cooperation Society
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• v.16 no.11
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• pp.7501-7507
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• 2015

This study analyzed the rate of unmet dental care service for the disabled who were judged to require the dentistry due to oral health-related problems and those reasons, and also examined the oral health status according to the unmet dentistry. 375 subjects, who were 19 years or older and completed oral health examination and a survey, among 444 responded positive of disability registration after participation in National Health and Nutrition Examination Survey(NHANES), were analyzed. Disability type was classified into 6 kinds(physical disability, brain lesions, sensory defect, developmental disability, mental disorder, endocrine disorder). Participants had 128 of their dental care needs unmet when it was required. 'Financial burden' was the main reason, with the subject of 49.2%, followed by 'lower on the priority scale' were 18.0%. The high frequency and progression permanent teeth caries experiencs and periodontal status of their dental disease were confirmed. In availability aspect of dentistry resources, it is required for using dentistry service smoothly through providing sufficient proper dental care service comparing with the number of the disabled.

• Biomolecules & Therapeutics
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• v.30 no.4
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• pp.320-327
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• 2022

Neurodevelopmental disorders are complex conditions that pose difficulty in the modulation of proper motor, sensory and cognitive function due to dysregulated neuronal development. Previous studies have reported that an imbalance in the excitation/inhibition (E/I) in the brain regulated by glutamatergic and/or GABAergic neurotransmission can cause neurodevelopmental and neuropsychiatric behavioral deficits such as autism spectrum disorder (ASD). NMDA acts as an agonist at the NMDA receptor and imitates the action of the glutamate on that receptor. NMDA however, unlike glutamate, only binds to and regulates the NMDA receptor subtypes and not the other glutamate receptors. This study seeks to determine whether NMDA administration in mice i.e., over-activation of the NMDA system would result in long-lasting behavioral deficits in the adolescent mice. Both gender mice were treated with NMDA or saline at early postnatal developmental period with significant synaptogenesis and synaptic maturation. On postnatal day 28, various behavioral experiments were conducted to assess and identify behavioral characteristics. NMDA-treated mice show social deficits, and repetitive behavior in both gender mice at adolescent periods. However, only the male mice but not female mice showed increased locomotor activity. This study implies that neonatal exposure to NMDA may illicit behavioral features similar to ASD. This study also confirms the validity of the E/I imbalance theory of ASD and that NMDA injection can be used as a pharmacologic model for ASD. Future studies may explore the mechanism behind the gender difference in locomotor activity as well as the human relevance and therapeutic significance of the present findings.

• 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.

• Clinical and Experimental Pediatrics
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• v.57 no.3
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• pp.140-148
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• 2014

Purpose: Lowe syndrome is a rare, X-linked recessive disorder caused by mutations in the OCRL gene. It involves multiple anatomic systems, particularly the eyes, central nervous system, and kidneys, and leads to profound growth failure and global developmental delay. This study evaluated the clinical and genetic characteristics of Korean patients with Lowe syndrome. Methods: The clinical findings and results of genetic studies were reviewed for 12 male patients diagnosed with Lowe syndrome at a single medical institution. Results: The mean age of the patients at presentation was 2.2 months (range, 0-4 months), although the diagnosis was delayed by a mean of 2.8 years (range, 0-9.7 years). The mean follow-up period was 9.0 years (range, 0.6-16.7 years). Nine mutations in OCRL were identified in 11 patients (92%), with three novel mutations. The main presentation was congenital cataract in both eyes necessitating early cataract removal in the 11 patients with impaired visual acuity. Profound short stature and developmental delay were observed in all patients, and seizures occurred in 50% of the patients. All patients suffered from proximal renal tubular dysfunction, and one patient developed chronic renal failure. Other manifestations included pathologic fracture (50%), cutaneous cysts (42%), and cryptorchidism (42%). However, there was no bleeding tendency, and none of the patients died during the study period. Conclusion: This study describes the clinical and genetic characteristics of Korean patients with Lowe syndrome. The observations are helpful for understanding the natural courses of Lowe syndrome and for appropriate genetic counseling.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.4 no.1
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• pp.124-132
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• 1993

We studied the clinical characteristics of 45 children with tic symptoms, and a comparison was made according to their birth order patterns. The results were as follows. Sex ration was 14:1 higher for boys. The eldest children were 46.7%, single children, 15.6%, the youngest children, 33.3%, and twins 4.4% of all Organicity was suggested in 37.8%, early developmental problems in 71.1%, and family problems were in 89.9%. Among the co-existing problems, ADHD 46.7%, OCD 17.7%, Separation anxiety disorder 24.4%, GAD or anxiety dreams 17.8%, somatization disorder and enuresis 13.3% each, stuttering 8.9%, and other conditions. Overall, 84.4% of the patients have one or more co-existing conditions other than tic symptoms. When compared according to birth order patterns, the most significant difference was the time of onset The youngests have more incidences around the entrance period for elementary school(p<0.01). Among the twins, the lower birth-weight child was the patient. Summing up these findings, we concluded there were significant environmental factors working on the manifestation of tic and tourette disorders.

• The Journal of Korean Academy of Sensory Integration
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• v.7 no.1
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• pp.1-12
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• 2009

Objective : This study is to verify effect of a sensory integration (SI) intervention on sensory processing of children with sensory modulation disorder (SMD), and to explore how the SI intervention affect play, socialization, occupational performance and occupational satisfaction of those children. Method : Five children with developmental disabilities living in metropolitan were diagnosed as SMD by the Sensory History Interview (SHI) and Short Sensory Profile (SSP). The SMD children undergone the 48 sessions of 50 min intervention twice in a week for six months and took the Revised Knox Preschool Play Scale(RKPPS), Social maturity test, Canadian Occupational Performance Measure(COPM), and Japanese Sensory Inventory Revised(JSI-2) before- and after the intervention. The result data analyzed by the Wilcoxon matched-pair signed rank test. Results : All data of post-intervention differed significantly; RKPPS(Z=-2.023, p=.043), Social maturity test(Z=-2.023, p=.043); occupational performance(Z=-2.023, p=.043); satisfaction(Z=-2.032, p=.042); and tactile system of JSI-2(Z=-2.032, p=.042). Conclusions : The results advocate that sensory integration intervention is effective in improving tactile processing, play, socialization, occupational performance, and occupational satisfaction of child with SMD. It is found that sensory integration intervention improves not only one's occupational performance but also underlying components of the performance. In order to generalize this conclusion, further studies need to be done with more number of subjects and consideration of environmental factors. Striving for more reliable and valid methods of data collection is also suggested.

• Education of Primary School Mathematics
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• v.14 no.3
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• pp.237-259
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• 2011

Mathematics learning disabilities is a specific learning disorder affecting the normal acquisition of arithmetic and spatial skills. Reported prevalence rates range from 5 to 10 percent and show high rates of comorbid disabilities, such as dyslexia and ADHD. In this study, the characteristics and the causes of this disorder has been examined. The core cause of mathematics learning disabilities is not clear yet: it can come from general cognitive problems, or disorder of innate intuitive number module could be the cause. Recently, researchers try to subdivide mathematics learning disabilities as (1) semantic/memory type, (2) procedural/skill type, (3) visuospatial type, and (4) reasoning type. Each subtype is related to specific brain areas subserving mathematical cognition. Based on these findings, the author has performed a basic research to develop grade specific diagnostic tests: number processing test and math word problems for lower grades and comprehensive math knowledge tests for the upper grades. The results should help teachers to find out prior knowledge, specific weaknesses of students, and plan personalized intervention program. The author suggest diagnostic tests are organized into 6 components. They are number sense, conceptual knowledge, arithmetic facts retrieval, procedural skills, mathematical reasoning/word problem solving, and visuospatial perception tests. This grouping will also help the examiner to figure out the processing time for each component.

• Journal of Life Science
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• v.33 no.5
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• pp.429-435
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• 2023

Epidemiological studies suggest that maternal infection, maternal stress, and environmental risk factors during pregnancy increase the risk of brain development abnormalities associated with cognitive impairment in the offspring and increase susceptibility to schizophrenia and autism spectrum disorder. Several animal models have demonstrated that maternal immune activation (MIA) is sufficient to induce abnormal brain development and behavioral defects in the fetus. When polyinosine:polycytodylic acid (poly I:C) or lipopolysaccharide (LPS), which is commonly used in maternal immune activation animal models, was introduced into a pregnant dam, an increase in pro-inflammatory cytokines and microglial activity was observed in the offspring's brain. Microglia are brain-resident immune cells that play a mediating role in the central nervous system, and they are responsible for various functions, such as phagocytosis, synapse formation and branching, and angiogenesis. Several studies have reported that microglia are activated in MIA offspring and influence offspring behavior through interactions with various cytokines. In addition, it has been reported that they play an important role in brain circuits through interactions with neurons and astrocytes. However, there is controversy concerning whether microglia are essential to brain development or lead to behavioral defects, and the exact mechanism remains unknown. Therefore, for the potential diagnosis and treatment of brain developmental disorders, a functional study of microglia should be conducted using MIA animal models.

• Journal of Industrial Convergence
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• v.22 no.7
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• pp.81-91
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• 2024

This study was conducted to determine the status of allergic diseases and mental health in adolescents, confirm the relationship between allergic diseases and mental health, and provide basic data for developing effective disease management measures for adolescents at the developmental stage. Secondary analysis was performed on the data from the 17^th Youth Health Behavior Online Survey, and complex sample descriptive statistics, cross-tabulation, and logistic regression analysis were performed using the SPSS 26.0 program. As a result of the study, those with one or more allergic diseases were 1.286 times more likely to have stress (B=1.286, p<.000), 1.289 times more likely to be depressed (B=1.289, p<.000), and 1.399 times more likely to have generalized anxiety disorder (B=1.399, p<.000) was highly likely to experience it. Additionally, factors affecting the mental health of adolescents with allergic diseases were gender, economic level, academic performance, drinking experience, and smoking experience. Stress and generalized anxiety disorder were more likely to be experienced by female students, if they had a lower economic level and academic performance, and if they drank alcohol or smoked. Male students were more likely to experience depression if their economic level and academic performance were higher, and if they did not drink alcohol or smoke. Based on these results, we hope to establish a practical approach by establishing effective strategies to manage allergic diseases in adolescents and the mental health conditions that may arise from them.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.17 no.2
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• pp.91-97
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• 2006

The effects of the Attachment Promotion Therapy (APT) program for the autistic children were reviewed by 8 papers. The program was consisted with play activity centered mother-child interaction, educational activity for parents, lecture, video-feedback, and support. APT program was effective to improve the attachment behaviors and attachment security. And the mother's behaviors to her child became more child-centered, positively responsive, expressive supportively. Ninety six point seven percent of the mothers were satisfied with the APT program. They described that it was helpful to understand their children's developmental limitation and strength, to learn how to play with their children, to make supportive social network among the mothers, to minimize familial conflicts, and to make them much more comfortable with their children. They thought the APT Program was to be a steppingstone of the further educational program. APT program is an effective early intervention to promote social development and decrease autistic problems.