• 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 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.

• Proceedings of the Korea Contents Association Conference
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• 2016.05a
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• pp.389-390
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• 2016

Since the Salamanca statement in 1994, inclusive education became the worldwide issue in the field of educational policy. Inclusive education is defined that equality and comprehensive education in the classroom to learning together regardless of whether with disability or not (Han et al, 2013). Inclusive education is the educational system and consist of the three domains; guarantee of rights, improvement in environment and reform in curriculum (Han et al, 2015). Diversity education has been positioned as an educational method in inclusive education. Diversity in classroom is very wide ranging; nationality, gender, culture, race, ethnicity, disability, age and religion. Diversity education is the educational method to providing the appropriate education for the children's diversity on the assumption that appreciate to the diversity. In recent years, the main purpose of inclusive education is to encompass children with disabilities. However, developmental disabilities that has no intellectual delay become a new challenge in education in addition to the physical and mental disability. This study aims to definition of the diversity education as the educational method in Japan.

• The Journal of Korean Academy of Sensory Integration
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• v.16 no.1
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• pp.25-34
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• 2018

Objective : This study aims to figure out the effect that sensory integration group therapy has on the fine motor, social interaction and playfulness of preschool children with intellectual disability. Methods : Participants were four children from three to five years old who were diagnosed with intellectual disabilities and they participated in twelve sessions of sensory integration group therapy, sixty minutes per session and once a week. Sensory integration group therapy was composed of parallel and peer play-centered gross motor activities, art activities and sensory plays that were related to each theme. Erhardt Developmental Prehension Assessment (EDPA), Penn Interactive Peer Play Scale (PIPPS) and Test of Playfulness (ToP) were used to evaluate participants' fine motor, social interaction and playfulness before and after the intervention. Results of fine motor, social interaction and playfulness before and after the intervention were compared using Wilcoxon matched-pair signed rank test. Results : After sensory integration group therapy intervention, the fine motor skills of participants did not show significant increases, but social interaction and playfulness showed significant increases (p< .05). Conclusion : Although sensory integration group therapy with preschool children with intellectual disability did not show positive improvement in fine motor skills, it showed positive effect on social interaction and playfulness. Group sensory integration therapy might be an intervention approach for all children with disabilities.