• Journal of the Ergonomics Society of Korea
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• v.34 no.5
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• pp.437-445
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• 2015

Objective: The aims of this study are to investigate the trends of intellectual property in order to identify the ergonomic approaches on musculoskeletal disorders, harmful factors of musculoskeletal disorders, and to find the potential applicability of motion capture technology. Background: Ergonomic posture assessment tools often showed interrater variance, though the usage is easy and practical in industrial fields. Moreover new technologies such as motion capture showed the potential applicability in posture assessment. So ergonomists and practitioners became interested in the intellectual properties on musculoskeletal disorder and motion capture technology. Method: Intellectual properties were collected with the combination of keywords such as ergonomic, musculoskeletal disorder, and motion capture using the KIPRIS (Korea Intellectual Property Rights Information Service). Collected intellectual properties were classified into ergonomic area and non-ergonomic area, except unexamined intellectual properties. This study investigated the trend of application of intellectual properties and the probability of using motion capture technology. Results: Few intellectual properties with ergonomic approach on musculoskeletal disorders were founded, despite many products for rehabilitation and sports. One hundred twenty five patents in 1105 patents on musculoskeletal disorders and 138 patents in 1908 patents on motion capture technology were classified into the patents that ergonomic approach can be applied. The patents related to ergonomics area are rapidly increasing after 2010, and there are good opportunities for ergonomists to apply the patents. Conclusion: This study found opportunities on novel methodology in detecting the harmful factors of musculoskeletal disorders, and that the motion capture technology is applicable in ergonomic posture assessment. Application: The results of this study can help ergonomists prepare the ergonomic patents, and can show the potential use of motion capture technology in detecting the harmful posture of musculoskeletal disorders.

• Journal of Oriental Neuropsychiatry
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• v.19 no.1
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• pp.97-105
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• 2008

Objective : The objective of this study is to investigate the intellectual characteristics of the specific language impairment(SLI) and the borderline intelligence-language disorder (BI-LD). Method : 30 Children participated in this study, IS children with SLI(K-WISC-ill FIQ above 85, Test of Problem Solving score below -1.25SD, verbal comprehension factor index of K-WISC III below 80), 14 children with BI-LD(K-WISC-ill FIQ $70^{\sim}85$, Test of Problem Solving score below -1.25SD, verbal comprehension factor index of K-WISC III below 80). All students were evaluated with K-WISC III, Test of Problem Solving. full-scale IQ (FSIQ), \ verbal intelligence quotient (VIQ), Verbal Comprehension Index, and Test of Problem Solving score were compared between two groups. Result : All subtests scores of PIQ in the SLI were significantly higher than those in the BI-LD. there was no significant difference in the subtests scores of VIQ. In the VIQ subtests, Information, Arithmetic, Comprehension score were higher in the SLI compared to the BI-LD, but the score of Similarities and Vocabulary were similar between two groups. Conclusion: These results suggest that inspite of the difference of PIQ, SLI and BI-LD have similar language abilities, and there are some different intellectual characteristics between SLI and BI-LD

• Journal of Genetic Medicine
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• v.16 no.1
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• pp.27-30
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• 2019

Smith-Kingsmore syndrome (SKS; OMIM 616638), also known as macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome (MINDS; ORPHA 457485), is a rare autosomal dominant disorder, the prevalence of which is not known. It is caused by a heterozygous germline mutation in MTOR (OMIM 601231). Ten different MTOR germline mutations in 27 individuals have been reported in the medical literature to date. These were all gain-of-function missense variants, and about half of the 27 individuals had c.5395G>A p.(Glu1799Lys) in MTOR. Here, I report for the first time a Korean patient with the heterozygous germline mutation c.5395G>A p.(Glu1799Lys) in MTOR. It was found to be a de novo mutation, which was identified by whole-exome sequencing and confirmed by Sanger sequencing. The patient showed typical clinical features of SKS, including macrocephaly/megalencephaly; moderate intellectual disability; seizures; behavioral problems; and facial dysmorphic features of curly hair, frontal bossing, midface hypoplasia, and hypertelorism.

• Journal of Genetic Medicine
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• v.18 no.1
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• pp.44-47
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• 2021

Cerebral creatine deficiency syndrome (CCDS) is a disorder where a defect is present in transport of creatine in the brain. Creatine plays an essential role in the energy metabolism of the brain. This is a genetic disorder, autosomal recessive or X linked, characterized by intellectual disability, speech and language delay, epilepsy, hypotonia, etc. Until recently very few number of cases have been reported. Here we report a case of 1.5-year-old boy who had epilepsy (epileptic spasm and generalized tonic clonic seizure), intellectual disability, microcephaly, hypotonia and speech delay. His magnetic resonance imaging of brain showed cortical atrophy and electroencephalography showed burst suppression pattern. The diagnosis was confirmed by clinical exome sequencing which showed novel mutation of SLC6A8+ in exon 9, suggestive of X linked recessive CCDS. The patient was then treated with glycine, L-arginine and creatine monohydrate with multiple antiepileptic drugs.

• The Journal of Korea Assosiation for Disability and Oral Health
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• v.13 no.1
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• pp.1-5
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• 2017

According to the Ministry of Health and Welfare, the portion of physical disability was 51.4% which was the highest among the registered disabled in December 2015, followed by visual disability(10.1%), disability of the brain lesions(10.0%), hearing disability(10.0%). The aim of this study is to investigate the types of disability in patients with disabilities visiting the Pediatric Dentistry, Chonbuk National University Dental Hospital in 2016. Of the patients who visited the pediatric dentistry, 196 patients (7.5%) had disabilities, and 19 patients had two or more disabilities. Twelve patients (6.1%) had both disabilities of brain lesion and intellectual disorder. Of the 177 patients with only one disability, 54 patients (30.5%) had physical disorders and 123 patients (69.4%) had psychiatric disorders. In psychiatric disorders, intellectual disorder was the most with 98 patients (55.3%), followed by autistic disorder with 23 patients (12.9%). In physical disorders, disability of brain lesion was the most with 37 patients (20.9%), followed by speech disability with 8 patients (4.5%). In this study, as a result of analyzing the types of disability with the patients who visited the Pediatric Dentistry of Chonbuk National University Dental Hospital, most of them had either intellectual disorder, disability of brain lesion, or autistic disorder. Dentists need to understand their general and dental characteristics to treat children and adolescents with disabilities. Since the most chief complaint of the patients was dental caries, early interventions should be made by dentist to reduce the incidence of the disease.

• The Journal of Korea Assosiation for Disability and Oral Health
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• v.6 no.2
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• pp.84-93
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• 2010

The developmental disorder(intellectual disorder(ID) and autism spectrum disorder(ASD)) can severely impair a patient's ability to communicate and socialize. So they require physical management techniques, pharmacologic agents, and general anesthesia more than the normal at the dental clinic. The behavior therapy is a kind of the psychotherapy and is applied to the patient with behavioral problems. Seoul Dental Hospital for Disabled(SDHD) set up the Dental Behavior Clinic for the patients with developmental disorder and treated 32 patients with ID or ASD, blind. 18 patients were treated according to the ordinary plans, 14 patients stopped the treatment by different reasons. The various results of the treatment were produced by the kind or severity of the diseases, age and cooperation of the patients and the caregivers. Especially, the behavior therapist helped to figure out the characteristics of the patients and to make individualized treatment plans. In the future, it will be necessary to treat more patients and to make the dental behavior therapy objectify. And through the dental behavior therapy, it will be expected that the patients will become more cooperative to the dental clinic and can receive regular check-up peacefully, reducing the frequency of the general anesthesia.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.20 no.1
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• pp.10-16
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• 2009

Objectives : The purpose of this study was to investigate the characteristics of attention, intellectual functioning and adaptation of girls with attention-deficit hyperactivity disorder (ADHD). Methods : The scores of the ADHD Diagnostic System (ADS), the Korean Wechsler Intelligence Scale for Children-III (K-WISC-III) and the Korean Personality Inventory for Children (KPI-C) were compared between 26 girls with ADHD and 26 boys with ADHD. Results : 1) There was no significant gender difference in the intellectual functioning, except for the picture completion subscale. 2) Compared to the boys, the girls responded more slowly on the ADS visual task. 3) The girls were rated higher by their parents for the depression and social relationship problems of the KPI-C. Conclusion : The results suggest that there are noticeable gender differences for the attention problems and social functioning of children with ADHD.

• Journal of Genetic Medicine
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• v.20 no.2
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• pp.70-74
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• 2023

CCCTC-binding factor (CTCF) is a transcriptional regulator that binds to a complex DNA motif in various orientations and plays a crucial role in regulating gene expression, chromatin restructuring, and developmental processes. Mutations in the CTCF are associated with neurodevelopmental disorders. Here we report the first Korean case with a de novo heterozygous variant in the CTCF (c.1025G>A; p.Arg342His). She showed global developmental delay, failure to thrive, and dysmorphic face, which are phenotypes consistent with previous reports in the autosomal dominant intellectual developmental disorder 21 (MIM 615502). She also showed clinical features not previously reported, such as antral web and tracheobronchomalacia. Our case follows suit and expands understanding of this rare disorder by reporting common features and, on the other hand, unreported concomitant congenital anomalies.

• Journal of mucopolysaccharidosis and rare diseases
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• v.5 no.1
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• pp.29-33
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• 2021

Prader-Willi Syndrome (PWS) is a neurodevelopmental genomic imprinting disorder involving a lack of gene expression from the paternal chromosome 15q11-q13 region. This is typically due to paternal 15q11-q13 deletions (in approximately 60% of cases), maternal uniparental disomy 15, or when both 15s are from the mother (about 35% of cases). An imprinting center controls the expression of imprinted genes in the chromosome 15q11-q13 region. PWS is a neurodevelopmental disorder characterized by mental retardation and distinct physical, behavioral, and psychiatric features. Characteristic behavioral disturbances in PWS include excessive interest in food, skin picking, difficulty with a change in routine, temper tantrums, obsessive and compulsive behaviors, and mood fluctuations. Individuals with PWS typically have intellectual disabilities (borderline to mild/moderate mental retardation) and exhibit a higher overall level of behavior disturbances compared to individuals with similar intellectual disabilities. This condition severely limits social adaptations and quality of life. Different factors have been linked to the intensity and form of these behavioral disturbances, but there is no consensus regarding the cause. Consequently, there is still controversy surrounding management strategies and there is a need for new data. PWS is a multisystem disorder. Family members, caregivers, physicians, dieticians, and speech-language pathologists all play an important role in the management and treatment of symptoms in an individual with PWS. Here we analyze behavioral problems in children and adults with PWS by age and review appropriate management and treatment strategies for these symptoms.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.29 no.1
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• pp.7-13
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• 2018

Objectives: Problem behaviors pose a great obstacle to daily functioning in children with neurodevelopmental deficits and are an important target for treatment. In this study, we translated the Behavior Problems Inventory (BPI)-01 into Korean language and tested its psychometric properties. Methods: We attained the approval of the BPI author and performed standard translation-back translation. Then, professional caregivers examined appropriateness according to cultural and situational contexts in order to make necessary modifications of the Korean version of the BPI. Results: The BPI-01, Korea-Scales of Independent Behavior-Revised (K-SIB-R), and Child Behavior Checklist were completed for 98 autistic spectrum disorder or intellectual development disorder participants (mean age=28.3, standard deviation=7.3, range=10.1-51.7). The inter-rater reliability of the BPI-01 was found to be high (r=0.992-1.000). As for the results for concurrent validity for subscale items of BPI-01 and scales of SIB, correlations between SIB and BPI-01 subscales were statistically significant (r=0.357-0.672). Discussion: The Korean version of the BPI-01 showed good psychometric properties with high reliability and sufficient convergent validity. Further examination of the validity of BPI-01 should be carried out with inclusion of younger aged children and a closer look at less frequently occurring symptoms.