• Journal of Digital Convergence
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• v.16 no.9
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• pp.427-435
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• 2018

The purpose of the study was to investigate the effects of nordic walking on body composition and physical fitness in obese women with intellectual disability(ID). The subjects in experimental group(n=12) participated in nordic walking program for 12 weeks while those in control group(n=9) was controled not to participate in physical activities. After the training, weight, muscle mass and fat mass% showed significant improvement in experimental group. In physical fitness, strength, balance and coordination in experimental group showed significant improvement. In conclusion, these results suggest that nordic walking can be recommended as an effective intervention program to change body composition and to improve physical fitness in obese women with ID.

• Journal of Dental Anesthesia and Pain Medicine
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• v.18 no.4
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• pp.245-254
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• 2018

Background: When performing dental treatment under general anesthesia in adult patients who have difficulty cooperating due to intellectual disabilities, anesthesia induction may be difficult as well. In particular, patients who refuse to come into the dental office or sit in the dental chair may have to be forced to do so. However, for adult patients with a large physique, physical restraint may be difficult, while oral sedatives as premedication may be helpful. Here, a retrospective analysis was performed to investigate the effect of oral sedatives. Methods: A hospital-based medical information database was searched for patients who were prescribed oral midazolam or triazolam between January 2009 and December 2017. Pre-anesthesia evaluation, anesthesia, and anesthesia recovery records of all patients were analyzed, and information on disability type, reason for prescribing oral sedatives, prescribed medication and dose, cooperation level during anesthesia induction, anesthesia duration, length of recovery room stay, and complications was retrieved. Results: A total of 97 patients were identified, of whom 50 and 47 received midazolam and triazolam, respectively. The major types of disability were intellectual disabilities, autism, Down syndrome, blindness, cerebral palsy, and epilepsy. Analyses of changes in cooperation levels after drug administration showed that anesthesia induction without physical restraint was possible in 56.0% of patients in the midazolam group and in 46.8% of patients in the triazolam group (P = 0.312). Conclusions: With administration of oral midazolam or triazolam, general anesthesia induction without any physical restraint was possible in approximately 50% of patients, with no difference between the drugs.

• Genes and Genomics
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• v.40 no.11
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• pp.1149-1155
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• 2018

Epileptic encephalopathies are genetically heterogeneous disorders which leads to epilepsy and cause neurological disorders. Seizure threshold 2 (SZT2) gene located on chromosome 1p34.2 encodes protein mainly expressed predominantly in the parietal and frontal cortex and dorsal root ganglia in the brain. Previous studies in mice showed that mutation in this gene can confers low seizure threshold, enhance epileptogenesis and in human may leads to facial dysmorphism, intellectual disability, seizure and macrocephaly. Objective of this study was to find out novel gene or novel mutation related to the gene phenotype. We have identified a large consanguineous Saudi family segregating developmental delay, intellectual disability, epilepsy, high forehead and macrocephaly. Exome sequencing was performed in affected siblings of the family to study the novel mutation. Whole exome sequencing data analysis, confirmed by subsequent Sanger sequencing validation study. Our results showed a novel homozygous mutation (c.9368G>A) in a substitution of a conserved glycine residue into a glutamic acid in the exon 67 of SZT2 gene. The mutation was ruled out in 100 unrelated healthy controls. The missense variant has not yet been reported as pathogenic in literature or variant databases. In conclusion, the here detected homozygous SZT2 variant might be the causative mutation that further explain epilepsy and developmental delay in this Saudi family.

• Journal of Genetic Medicine
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• v.19 no.1
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• pp.22-26
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• 2022

Cerebrotendinous xanthomatosis (CTX) is a rare genetic disease caused by a deficiency of enzymes for the synthesis of bile acid, resulting in the accumulation of cholestanol with reduced chenodeoxycholic acid (CDCA) production and causing various symptoms such as chronic diarrhea in infancy, juvenile cataracts in childhood, tendon xanthomas in adolescence and young adulthood, and progressive neurologic dysfunction in adulthood. Because oral CDCA replacement therapy can effectively prevent disease progression, early diagnosis and treatment are critical in CTX. This study reports the case of CTX in a 10-year-old male who presented with Achilles tendon xanthoma and mild intellectual disability. Biochemical testing showed normal cholesterol and sitosterol levels but elevated cholestanol levels. Genetic testing showed compound heterozygous variants of CYP27A1, c.379C>T (p.Arg127Trp), and c.1214G>A (p.Arg405Gln), which confirmed the diagnosis of CTX. The patient had neither cataracts nor other focal neurologic deficits and showed no abnormalities on brain imaging. The patient received oral CDCA replacement therapy without any adverse effects; thereafter, the cholestanol level decreased and no disease progression was noted. The diagnostic possibility of CTX should be considered in patients with tendon xanthoma and normolipidemic conditions to prevent neurological deterioration.

• Journal of Dental Anesthesia and Pain Medicine
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• v.24 no.3
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• pp.173-185
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• 2024

Background: Excessive fear of dental procedures leads to disruptive behavior during dental examinations and treatments. Dental examinations and treatments of these patients usually require additional techniques, such as sedation. The most commonly used techniques are inhalation of nitrous oxide, infusion of propofol with fentanyl, and premedication and infusion of midazolam. Methods: A prospective observational epidemiological study was conducted on patients who required sedoanalgesia techniques for dental exploration and procedures. The reasons for the inability of patients to cooperate (excessive fear or intellectual disability), age, sex, weight, systemic pathology, oral pathology, treatment performed, time of intervention, anesthetic technique performed, and occurrence of complications were recorded. Results: In total, 218 patients were studied. Sixty-five patients came for fear of dental treatment and 153 for presenting with a diagnosis of intellectual disability and not collaborating in the treatment with local anesthesia. The average age of all patients was 30.54±17.30 years. The most frequent oral pathologies found in patients with excessive fear were tartar (6.8%) and wisdom teeth (6.4%), followed by missing teeth (5%). In patients with disabilities, a combination of tartar and cavities appeared most frequently (41.3%), followed by cavities (15.6%). The most frequently used sedoanalgesia technique was the infusion of propofol with fentanyl in both groups of patients, followed by nitrous oxide. Conclusion: The combination of propofol and fentanyl was the most frequently used alternative in patients who were unable to collaborate because of intellectual disability or carry out longer or more complex treatments. Inhaled nitrous oxide and midazolam were the sedative techniques of choice for simpler oral treatments, such as tartrectomies, shallow obturations, and shorter interventions, or in younger patients.

• Journal of Digital Convergence
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• v.14 no.10
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• pp.483-497
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• 2016

Purpose of this study is to compare and analyze effect of exercise intensity in complex training for 8 weeks on leptin, growth hormone, IGF-1, and body composition in middle school with intellectual disability. Subjects of this study were 26 middle school students, 9 in high-intensity group, 9 in middle-intensity group, and 8 in low-intensity group. To compare the difference from different exercise intensity, pre-value before training has been set as covariate and different exercise intensity has been set as independent variable, with changes in leptin, growth hormone, IGF-1, and body composition. Analysis of covariance (ANOVA) has been performed for data analysis and effect size ${\eta}^2$(eta) has been deduced. Result acquired from analyzed data is as following. First, when equal exercise has been imposed on middle school students with intellectual disability, in regard of exercise intensity, it was shown that leptin most decreased in middle-intensity, growth hormone most increased in middle-intensity, and IGF-1 increased in low-intensity. Second, in regard of body composition, low-intensity was most effective in increase of total body weight without fat. Decrease of body fat was most prominent in middle-intensity and increase of bone density, in low-intensity. Also, in further studies, study that differentiates subjects in gender and individual exercise performance is deemed mandatory.

• The Journal of Korean Academy of Prosthodontics
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• v.55 no.2
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• pp.156-163
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• 2017

People with class I intellectual disability need lifelong assistance and protection from their surroundings due to impaired adaptive functioning. They have poor oral health and show higher prevalence of dental caries, periapical inflammation and tooth loss that require proper prosthetic restoration. Because removable prostheses for intellectually disabled patients often lack stability, retention, and maintenance, fixed prostheses are essential and the only available option is dental implants. In this case, a 45 year-old male patient with class I intellectual disability had poor oral hygiene with most of his teeth missing and visited the clinic to recover his masticatory function. Due to such systemic conditions, the definitive restoration of choice was the implant-supported fixed dental prosthesis made of biocompatible and highly strong monolithic zirconia. In consequence of the treatment process, the patient was able to improve his oral environment aesthetically and functionally.

• The Journal of the Korea Contents Association
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• v.17 no.6
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• pp.382-395
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• 2017

This study attempted to examine how sexually abused women with intellectual disability living in residential care facilities interact with their environment, such as personal life, family and communities, and to identify contextual characteristics and needs of these women. Qualitative case study method was adopted, and data was collected through individual and intake interviews, participant observation and a survey with 11 participants residing in a residential care facility for sexually abused women with intellectual disability. The results showed that participants struggled with stresses and emotional instability affected by traumatic experiences of sexual abuse. Family was a system that sexual abused took place, while the systems of residential facilities protected them from potential dangers and violence. Work and school systems also provided them opportunities of learning and having dreams in the future. However, the community system which participants would live after discharging from the facility, had risk factors vulnerable to sexual violence against participants. In conclusion, this study suggested diverse services and programs, such as professional psychotherapy programs, integrated support programs for victim and their families and provision of professional care facilities.

• Journal of the Korea Convergence Society
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• v.10 no.3
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• pp.319-334
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• 2019

This study was conducted to identify the caregiver's educational needs for health care of children with intellectual disability in Mongolia. Data were collected from 150 family caregivers of children with disability in Mongolia between September 30 and October 31, 2017. The questionnaire included a scale for health care education needs in the form of 10 categories, 35 items, 5-point Likert's type. The mean score of educational needs of the primary caregiver were $4.05{\pm}0.65$. The category of information and knowledge acquisition showed the highest score ($4.48{\pm}0.57$). There were statistically significant differences in educational needs of the caregiver according to monthly income (F=7.07, p<.001), presence of a secondary caregiver (t=-2.70, p=.008), other disabled children status (t=2.02, p=.046), occupation status of disabled child's mother (F=3.87, p=.023), and multiple handicaps of caring child (t=-2.60, p=.010). The findings on caregiver's educational needs in this study can help inform planning of caregiving support services for children with intellectual disability in Mongolia.

• Journal of Music and Human Behavior
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• v.16 no.1
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• pp.1-24
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• 2019

The purpose of this study was to analyze the literature on music interventions for youth with intellectual disability. Characteristics of the music intervention, target goal domains, and the quality of statements on intervention contents and rationale were explored. What type of intervention was applied in each target goal domain and how studies differed in terms of the quality of stated rationales depending on the authors' field of study were also analyzed. A total of 20 articles published in KCI journals were identified. The analysis showed the differences in intervention contents depending on the authors' research field and target goal areas. In addition, it was found that only two studies stated an appropriate rationale based on the theory of music therapy and relevant research. Discrepancies on the quality of rationale between researchers with music therapy majors and with non-music therapy majors indicated the importance of the music therapy professionalism in expecting and interpreting the intervention outcomes. These findings highlight the ways in which music intervention studies could be improved to further the field and contribute to the rigor of these interventions for youth with intellectual disability.