• Journal of Korea Society of Industrial Information Systems
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• v.18 no.4
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• pp.1-8
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• 2013

In the modern society, instructional methods using diverse media have appeared thanks to the development of Information & Communication Technology, and applicability of such instructional methods has been fully corroborated. However, customized contents allowing for disabled children's environment are still insufficient. Hence, this study produced educational contents of play activities for children with developmental disability, through applying N-screen technology, IT technology that can provide the same contents via a variety of digital media. The produced contents allow programs to be set up according to a child's individual characteristics and be carried out anywhere and anytime via an Internet-enabled digital device. Further, the developed contents were produced so that they could be accessed from a child's various environment (home, school, etc.) via a PC, a smart phone, a portable from a child's various environment (home, school, etc.) via a PC, a smart phone, a portable device, etc. and that the same educational program could be conducted in linkage at home, school, etc. Three children with Intellectual disability and autism spectrum disorder were applied to the manufactured content. As a result, Content interaction between interaction between teachers and students in play training could use as a medium.In addition, the children's ability to select the appropriate components and reinforcements, special education professionals have used the content of the interviews are helpful in mediation than the existing content.

• Journal of Music and Human Behavior
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• v.12 no.1
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• pp.1-21
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• 2015

This study examined the effects of a tablet PC-based music-making program on the executive function of adolescents with intellectual disabilities. Four adolescents with intellectual disabilities participated in this program. Each participant received 45-minute individual sessions twice a week for a total of 16 sessions. The music-making program was designed in the sequence of planning; learning table PC operations; exploring musical elements; making rhythm, melody, and lyrics; composing loop sections; and presentation of the completed music. The Stroop test, Children's Color Trails Test, and Digit Span and Letter-Number sequencing tests were measured at pretest, midtest, and posttest in order to examine changes in executive function. The participants showed increased scores on all three tests. The participants' attention span also increased and their attempts to correct errors during tasks occurred more frequently at posttest. This study supports the effects of the technology-based program on the executive function of adolescents with intellectual disabilities and presents its expanded applicability for adolescents who show low cognitive function and limited motivation for cognitive engagement.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.14 no.1
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• pp.48-53
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• 2014

Smith-Lemli-Opitz syndrome (SLO) is a rare, autosomal recessive disease caused by an inborn error in cholesterol synthesis. Patients with this disease suffer from multiple malformations due to reduced activity of 7-dehydrocholesterol reductase (DHCR7), which increases 7-dehydrocholesterol (7DHC) and 8-dehydrocholesterol (8DHC) concentrations and decreases cholesterol concentration in body fluids and tissue. Here, we describe Korean siblings with SLO who were diagnosed recently, and performed a review of literature about Korean cases with SLO to date. Microcephaly and syndactyly of the second and third toes are the most common physical finding in SLOS patients. Other malformations including growth failure, cleft palate or bifid uvula, various heart malformation, genital ambiguity in males are also accompanied. Not all patients showed low levels of serum cholesterol, so DHCR7 mutation analysis can be helpful to confirmative diagnosis. Two mutations on p.R352 locus (p.R352W and p.R352Q) are commonly identified in Korean SLO patients. Although rare in Korea, SLO should be considered in the differential diagnosis of growth failure with intellectual disability, especially in patients with multiple congenital anomalies.

• Journal of Korea Game Society
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• v.15 no.3
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• pp.161-176
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• 2015

The purpose of this study was to examine the effects of a script intervention based on multimedia on the verbal and behavioral self-advocacy skill of elementary school students with disabilities. A multiple probe baseline design across subjects had been used with 4 students with intellectual disabilities. The results showed all participants showed significant increase of verbal and behavioral self-advocacy performance in asking for help, expressing one's opinions, and coping with violations, and the effects were maintained. The intervention was more effective for verbal self-advocacy than behavioral. Some suggestions for future study are discussed.

• Journal of Genetic Medicine
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• v.15 no.2
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• pp.110-114
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• 2018

Ataxia-telangiectasia (AT; OMIM 208900) is a rare autosomal recessive inherited progressive neurodegenerative disorder, with onset in early childhood. AT is caused by homozygous or compound heterozygous mutations in ATM (OMIM 607585) on chromosome 11q22. The average prevalence of the disease is estimated at 1 of 100,000 children worldwide. The prevalence of AT in the Republic of Korea is suggested to be extremely low, with only a few cases genetically confirmed thus far. Herein, we report a 5-year-old Korean boy with clinical features such as progressive gait and truncal ataxia, both ankle spasticity, dysarthria, and mild intellectual disability. The patient was identified as a compound heterozygote with two novel genetic variants: a paternally derived c.5288_5289insGA p.(Tyr1763*) nonsense variant and a maternally derived c.8363A>C p.(His2788Pro) missense variant, as revealed by next-generation sequencing and confirmed by Sanger sequencing. Based on claims data from the Health Insurance Review and Assessment Service Republic of Korea, we calculated the prevalence of AT in the Republic of Korea to be about 0.9 per million individuals, which is similar to the worldwide average. Therefore, we suggest that multi-gene panel sequencing including ATM should be considered early diagnosis.

• Korean Journal of Occupational Therapy
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• v.26 no.4
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• pp.111-125
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• 2018

Objective : This study was designed to determine the effects of sensory integration group therapy with regard to the sensory processing, peer interactions, and task performance, and whether they continue. Methods : Twelve children aged 7 to 13 years enrolled in this study for 60 minutes per session, three times a week for 8 weeks. Sensory integration group therapy consisted of a total of 24 activities that included sensory processing, play skills, and interaction with peers. Short Sensory Profile was used to select subjects. In order to measure the outcome, we used the Short Sensory Profile, Penn Interactive Peer Play Scale and Canadian Occupational Performance Measure at pre, post, and follow-up evaluations. The results were analyzed by means of repeated measures analysis, and the pre-test, post-test, and follow-up tests were compared using the Wilcoxon matched-pair signed rank test. Results : After sensory integration group therapy, sensory processing, peer interaction, and task performance significantly improved(p<.05). In addition, we confirmed that the effects of treatment were maintained in the 4 weeks follow-up test. Conclusion : Sensory integration group therapy is an effective way of mediating effects not only by improving sensory processing skills, but also by providing imitation and training in groups for children in need of peer interaction and linking them to daily life.

• Journal of Genetic Medicine
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• v.19 no.2
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• pp.111-114
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• 2022

Many monogenic neurodevelopmental disorders have been newly identified in recent years owing to the rapid development of genetic sequencing technology. These include variants of the epigenetic machinery - up to 300 known epigenetic factors of which about 50 have been linked to specific clinical phenotypes. Chromodomain, helicase, DNA binding 1 (CHD1) is an ATP-dependent chromatin remodeler, known to be the causative gene of the autosomal dominant neurodevelopmental disorder Pilarowski-Bjornsson syndrome. Patients exhibit various degrees of global developmental delay, autism, speech apraxia, seizures, growth retardation, and craniofacial dysmorphism. We report the first case of Pilarowski-Bjornsson syndrome in Korea, due to a de novo missense variant of the CHD1 gene (c.862A>G, p.Thr288Ala) in a previously undiagnosed 17-year-old male. His infantile onset of severe global developmental delay, intellectual disability, speech apraxia, and failure to thrive are compatible with Pilarowski-Bjornsson syndrome. We also noted some features not previously reported in this syndrome such as skeletal dysplasia and ichthyosis. Further studies are needed to discover the specific phenotypes and pathogenic mechanisms behind this rare disorder.

• The Journal of Korean Academy of Sensory Integration
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• v.14 no.1
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• pp.19-30
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• 2016

Objective : The purpose of this study was to identify the effects of Interactive Metronome (IM) training on short-term memory and attention for children with mental retardation. Methods : For this study, single-subject experimental research was conducted using an ABA design. We observed two children, twice a week for 9 weeks, which was 18 sessions in total. We evaluated the children's brain waves without intervention and the child's pseudo randomly selected sample of one short-term memory task as assessed in the baseline A phase for three sessions. In the intervention phase the children received 40-50 minutes of Interactive Metronome training twice a week, a total of 12 sessions. The short-term memory test and long form test as assessed after treatment, without brain wave in short form test measuring. During the baseline A phase, data were collected using the same procedure as the baseline A phase. Results : After the interactive metronome training, positive changes was observed in brain waves, attentions and short-term memory. Conclusion : The results of this study expect that IM training has a potential for improving cognitive functions of children with mental retardation. In addition, the results of this study can be used as basic data in attention and short-term memory of occupational therapy intervention for children with mental retardation.

• Therapeutic Science for Rehabilitation
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• v.12 no.4
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• pp.39-51
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• 2023

Objective : This study seeks to unveil the intellectual framework of research surrounding children's occupations by utilizing social network analysis of keywords from studies focused on childhood. Methods : From August 2003 to August 2023, we analyzed 3,364 keywords extracted from 270 research articles in the Korean Citation Index with the keyword "Child and Occupation" using the NetMiner program. Results : Research on children's work has increased quantitatively over the past decade. Keywords exhibiting a high degree of centrality in the realm of child occupation research included Task (0.055), Group therapy (0.040), Working memory (0.037), Intervention (0.033), Performance (0.030), Language (0.026), Ability (0.026), Skill (0.024), and Program (0.023). Notably, the weighted terms in the Word Network included Evaluation-Tool (30), School-Student (15), and Activity-Participation (15). The primary keywords from each topic in topic modeling were Activity (0.295), Disability (0.604), Education (0.356), Skill (0.478), School (0.317), Function (0.462), Disorder (0.324), Language (0.310), Comprehension (0.412), and Training (0.511). Conclusion : This study describes the trends in the domestic field of pediatric occupational research. These efforts provided valuable insights into pediatric occupational therapy in South Korea.

• Journal of the Korean Child Neurology Society
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• v.26 no.4
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• pp.272-275
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• 2018

KBG syndrome is a rare neurodevelopmental disorder characterized by intellectual disability, skeletal anomalies, short stature, craniofacial dysmorphism, and macrodontia. ANKRD11 gene mutation and 16q24.3 microdeletion have been reported to cause KBG syndrome. Here, we report two patients with ANKRD11 mutations who initially presented with neurologic symptoms such as developmental delay and seizures. Patient 1 was a 23-month-old boy who presented with a global developmental delay. Language delay was the most dominant feature. He had hypertelorism, hearing impairment, and behavior problems characterized as hyperactivity. A c.1903_1907delAAACA (p.Lys635GInfsTer26) mutation in ANKRD11 was identified with diagnostic exome sequencing. Patient 2 was a 14-month-old boy with developmental delay and seizure. He also had atrial septum defect, and ventricular septal defect. Generalized tonic seizures began at the age of 8 months. Electroencephalography showed generalized sharp and slow wave pattern. Seizures did not respond to antiepileptic drugs. A loss of function mutation c.5350_5351delTC (p.ser1784HisfsTer12) in ANKRD11 was identified with diagnostic exome sequencing. In both cases, characteristic features of KBG syndrome such as short stature or macrodontia, were absent, and they visited the hospital due to neurological symptoms. These findings suggest that more patients with mild phenotypes of KBG syndrome are being recognized with advances in diagnostic exome sequencing genetic technologies.