• Journal of Genetic Medicine
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• v.16 no.2
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• pp.49-54
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• 2019

Purpose: Potocki-Lupski syndrome (PTLS), is a recently identified, rare genomic disorder. The patients are affected by infantile hypotonia, poor growth and developmental delay. Facial dysmorphism may not be obvious in some patients. PTLS is associated with microduplication at chromosome 17p11.2. In the current study, three Korean patients are reported with their clinical and genetic features. Materials and Methods: The clinical findings of each patient were reviewed. Karyotyping and multiplex ligation-dependent probe amplification (MLPA) analyses were done for genetic diagnoses. Results: All the patients did not have the characteristic dysmorphic features, such as broad forehead, triangular face, asymmetric smile and palpebral fissures. On the other hand, all three patients were affected by variable degree of developmental delay, poor oral intake, failure to thrive, and language development disorders. Chromosome 17p11.2 duplication was identified by conventional karyotyping analysis only in one patient, whereas the other confirmed by MLPA analyses. Conclusion: Delayed development was mostly commonly observed in our patients without distinct dysmorphic facial features. In this respect, genomic screening in patients with developmental delay would identify more cases with PTLS to understand their long-term clinical courses with the development of adequate psychological and rehabilitation education program.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.34 no.4
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• pp.258-267
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• 2023

Objectives: This study aimed to compare the utility of the Psychoeducational Profile-Revised (PEP-R), Korean Wechsler Preschool and Primary Scale of Intelligence, Fourth Edition (K-WPPSI-IV), and Vineland Adaptive Behavior Scale, Second Edition (VABS-II) for evaluating developmental disabilities (DD) in preschool children. Additionally, we examined the correlations between the PEP-R, K-WPPSI-IV, and VABS-II. Methods: A total of 164 children aged 37-84 months were assessed. Children's development was evaluated using the PEP-R, K-WPPSI-IV, VABS-II, Preschool Receptive-Expressive Language Scale, and Korean Childhood Autism Rating Scale, Second Edition. Results: Of the 164 children, 103 had typical development (TD) and 61 had DD. The mean of the PEP-R Developmental Quotient (DQ), K-WPPSI-IV Full-Scale Intelligence Quotient (FSIQ), and VABS-II Adaptive Behavior Composite (ABC) scores were significantly higher in the TD group than in the DD group (p<0.001). The estimated area under the curve of the PEP-R DQ, K-WPPSI-IV FSIQ, and VABS-II ABC scores was 0.953 (95% confidence interval [CI]=0.915-0.992), 0.955 (95% CI=0.914-0.996), and 0.961 (95% CI=0.932-0.991), respectively, which did not indicate a statistically significant difference. The PEP-R DQ scores were positively correlated with the K-WPPSI-IV FSIQ (r=0.90, p<0.001) and VABS-II ABC scores (r=0.84, p<0.001). A strong correlation was observed between the K-WPPSI-IV FSIQ and VABS-II ABC scores (r=0.89, p<0.001). Conclusion: This study found that the PEP-R, K-WPPSI-IV, and VABS-II effectively distinguished DD from TD in preschool children, and no significant differences in utility were observed between them.

• The Journal of Korean Academy of Sensory Integration
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• v.2 no.1
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• pp.33-42
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• 2004

Objective : To evaluate the sensory processing ability in relation to parenting stress and find the sensory modulation areas affecting the parenting stress in disabled children Methods : Parents of 124 children with disabilities between 3 to 7 years receiving occupational therapy in Seoul and Gyeonggi-do made out the questionnaire and in items of questionnaire, Short Sensory Profile and Parenting Stress Index of short form was included. Results : Among general information, parenting stress of parents had significant correlation with the degree of disability and correlation with the lower level 2 of Parenting Stress Index. The more sensory processing disability was increased, the more parenting stress was increased. Parenting stress showed the significant correlation with movement sensitivity area and under-responsiveness/behaivor area seeking specific stimulation among sensory processing areas and had significant correlation with tactile sensitivity and auditory filtering. Sensory processing areas which affect the most the Parenting Stress were movement sensitivity and under-responsiveness/behaivor area seeking the specific behavior among sensory control disabilities. Conclusion : The parenting stress of parents with the disabled children had the correlation with sensory processing ability. The difficulty of sensory processing increased the parenting stress. Hence, in order to improve children's sensory processing ability, the appropriately coping program should be developed and the appropriate intervention for improvement of sensory processing ability of children will be necessary.

• Journal of the Korea Society of Computer and Information
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• v.23 no.4
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• pp.41-49
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• 2018

The purpose of this study is to investigate the effect of computer pointing game on the visual perception ability of children with severe intellectual disability. Based on a literature review, we developed a computer pointing game to improve visual perception ability, which consisted of three stages; catching a hamburger, catching a hamburger and a soda, and catching various foods. At each stage, different instructional models were applied by difficulty level of the contents. Experiments were performed among four children with severe intellectual disabilities for three weeks. They belonged to H public school in Kyeonggi, Korea. Their visual perceptions were quantitatively measured four times by utilizing the Korean Developmental Test of Visual Perception tool (K-DTVP-2). For qualitative evaluation, an observation assessment diary was written and analyzed. All four children at the fourth test showed better visual perception ability, compared with the ability at the first test. As a result of the analysis of the observation assessment, they were considered successful in their learning and ordinary life related to visual perception. It can be concluded that the computer pointing game may play a role in helping children with severe intellectual disabilities improve their visual perception ability.

• Therapeutic Science for Rehabilitation
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• v.13 no.1
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• pp.49-63
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• 2024

Objective : The purpose of this study was to investigate parental perspectives on cognitive rehabilitation using a combination of phenomenological research methodology and word cloud analysis. Methods : Interviews were conducted with five parents of children with developmental disabilities. Word cloud analysis was conducted using Python, and five researchers analyzed the meaning units and themes using phenomenological methods. Words with high frequency were considered as a heuristic tool. Results : A total of 43 meaning units and nine components related to the phenomenon of cognitive rehabilitation were derived, and three themes were finalized. The main themes encompassed the definition of cognitive rehabilitation, challenges associated with cognitive rehabilitation, and factors influencing the selection of a cognitive rehabilitation institute. Cognitive rehabilitation emerged as a treatment focused on improving learning, daily functioning, and cognitive abilities in children with developmental disabilities. The perceived issues with cognitive rehabilitation pertained to treatment methods, therapist expertise, and associated costs. In addition, parents highlighted the importance of therapist expertise, humane personality, and affordability of cost and schedule when choosing a cognitive rehabilitation institute. Conclusion : Parents expressed expectations for substantial improvements in their children's daily functioning through cognitive rehabilitation. However, challenges were identified in clinical practices. Going forward, we expect that cognitive rehabilitation will evolve into a better therapeutic support service addressing the concerns raised by parents.

• Journal of Korean Physical Therapy Science
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• v.13 no.2
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• pp.27-36
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• 2006

The purpose of this study would like to analyze statically significant difference for low back-pain frequency of mother after development-disability children. Seven nursery children with disability conducted survey from 122 mothers cared children with disability. Survey data was obtained from April 14. 2006 to May 23. 2006. The results were as follows: According to walking-existence, assistance walking, and disability-degree, low back pain incidence frequency of mothers were statically significant difference, (p<0.05). Low back pain incidence frequency of walker-ability population was 51.4%, but low back pain incidence frequency of walker-disability population was 80.0%. then low back pain incidence frequency of mothers to walking-existence was differed amount. Disabled not statically significant difference to encephalopathy and disability-type1 and disability -type2 (p>0.05). children with disability-degree and assistance walking benchmarked low back pain disability-measure. Low back pain degree not relevancy statically significant. Physical load was statically significant difference between Oswestry's low back pain score and reach effect to child-cared(p<0.05). As development-children with disability of disable degree, Mother appeared to highly low back pain frequency rate and appeared to large reach effect child-cared owing to physical load of low back pain. So hereafter, location and person request to approach with more clinical and objectively. As approach result, it will help to stress solution of children with disability owing to develop to low back pain class and family capable strengthening program and so on.

• The Journal of Korean Academy of Sensory Integration
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• v.4 no.1
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• pp.47-55
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• 2006

Objective : The purpose of this study was to evaluate the correlation between visual perception ability and activities of daily living(ADL) in the children with spastic diplegia who were treated at developmental disabilities children salutary institute. Method : The subject were consisted of 8 children with spastic diplegia(mean age, 10). The visual perception ability was measured by the Developmental Test of Visual Perception(DTVP) and by the Functional Independence Measure for Children(WeeFIM) to evaluate activities of daily living. Collected data analysis were completed by using correlation analysis. Results : Visual perception ability of children with spastic diplegia is the highest in Position in Space(PS) score, and is the lowest in Visual-Motor coordination(VM) score. Average visual perception performance of children with spastic diplegia is the highest in SR(Spatial relationship) score, and is the lowest in VM score. In activities of daily living, eating component were significantly correlated with Visual-Motor coordination. Conclusions : Therefore, accurate evaluation of visual perception ability and visual perception training for children with spastic diplegia will be important to improve patient's activities of daily living skill.

• The Journal of Korean Academy of Sensory Integration
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• v.9 no.2
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• pp.41-49
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• 2011

Objective : This study aims to compare children with and without pervasive developmental disorders in terms of the sensory processing ability and behavioral characteristic of oral feeding. This study also aims to identify correlation between sensory processing and characteristics of eating. Methods : The subjects of this research were normal children and those who have diagnosis of a pervasive developmental disorder, aged from 4 to 6. The research instruments were composed of Short Sensory Profile (SSP), Brief Autism Mealtime Behavior Inventory (BAMBI) and Food Items of the Sensory Checklist. Data collection was done by a professional survey institute located in 10 cities including Busan, South Korea. The survey questionnaires were distributed to 455 parents of children with and without pervasive developmental disabilities through the survey institutes. Total 263 answers were collected out of 455 questionnaires (62%) and 154 answers were used in data analysis. Out of 154 answers, 45 were for children with pervasive developmental disabilities and 109 were for normal children. Data analysis was done to identify correlations between sensory processing and characteristics of eating such as eating behavior and oral feeding. Results : 1. There was a significant difference between children with and without pervasive developmental disorders in all area of sensory processing ability (p<.05). 2. There was no difference between children with and without pervasive developmental disorders in eating behavior (p=0.881) and oral feeding (p=0.324). 3. In the group of children with a pervasive developmental disorders, it is found that there is negative correlation between sensory processing, eating behavior and oral feeding (r=-0.384, p<.01). 4. A remarkable significant correlation was found between sensory processing and eating behavior especially in taste/smell sensitivity (r=-0.6, p<.01) and auditory filtering (r=-0.326, p<.05). The correlation between sensory processing and oral feeding was most significant in under responsiveness/seeking sensation (r=-0.372, p<.05) and auditory filtering (r=-0.382, p<.05). Conclusion : This study found that there are significant correlations between sensory processing ability and some characteristics of eating behaviors for children with pervasive developmental disorders. This information can be useful to develop a program to intervene eating behavior problems of children with pervasive developmental disorders.

• The Journal of the Korea Contents Association
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• v.21 no.7
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• pp.510-518
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• 2021

This study analyzed (1) the utility of telepractice in language assessment and (2) parental satisfaction for telepractice. Young children with language disabilities conducted REVT through both face-to-face and telepractice system. The correlation and paired t-test were analyzed. The results showed (1) the strong correlations between telepractice and face-to-face assessment scores. However, the telepractice score was significantly lower than face-to-face in the receptive vocabulary test and (2) the overall average of parental satisfaction for telepractice was 3.6 out of 5 points. The parents showed the highest satisfaction in terms of time and convenience of telepractice while the equivalence between telepractice and face-to-face item was the lowest. This study suggested the possibility and considerations in applying telepractice of language assessment in Korea.

• Journal of Korean Physical Therapy Science
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• v.8 no.2
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• pp.953-960
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• 2001

This study is approached the early intervention of children with disability in the aspect of family. The family of didabled children are identified as special individual with responsibilities and roles beyond those of other family. Physical Therapy need of the disabled child should be sought in the context of the family and socio-cultural environment. The process of early developmental facilitation is defined as a approach of the family. As family is the most influential factor in the child developmental facilitation, treatment and education. The family tend to seek complete information about disabilities, desire accurate, straight foreward about their child.