• The Journal of Pediatrics of Korean Medicine
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• v.15 no.2
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• pp.69-73
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• 2001

The neurofibromatosis (NF) are a set of genetic disorders which cause tumors to grow along various types of nerves and, in addition, can affect the development of non-nervous tissues such as bones and skin. NF causes tumors to grow anywhere on or in the body. It also leads to developmental abnormalities. For example, individuals with NF have a higher incidence of learning disabilities. Neurofibromatosis(NF) has been classified into two distinct types: NF-I and NF-II. neurofibromatosis 1(NF-I), also known as von Recklinghausen NF or Peripheral NF, occurring in 1:4,000 births, is characterized by multiple cafe-au-lait spots and neurofibromas on or under the skin. Enlargement and deformation of bones and curvature of the spine (scoliosis) may also occur. Occasionally, tumors may develop in the brain, on cranial nerves, or on the spinal cord. About 50% of people with NF also have learning disabilities. Neurofibromatosis 2(NF-II), also known as Bilateral Acoustic NF(BAN), is much rarer occurring in 1:50,000 births. NF-II is characterized by multiple tumors on the cranial and spinal nerves, and by other lesions of the brain and spinal cord. Tumors affecting both of the auditory nerves are the hallmark. Hearing loss beginning in the teens or early twenties is generally the first symptom. We reported a 10-year-old female patient with NF-I, she has pain and edema in left leg, no symptoms of NF.

• Journal of Korean society of Dental Hygiene
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• v.21 no.2
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• pp.183-191
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• 2021

Objectives: The purpose of this study was to identify the factors of satisfaction with regional oral health centers for people with disabilities in Korea. Methods: A survey was conducted with 784 patients who visited regional oral health care centers in Korea. A self-developed questionnaire (29 items) was adapted with a consent form and IRB (Institutional Review Board). All collected data were analyzed for statistics using SPSS version 25.0. Results: The study participants were 452 (57.7%) male patients, 207 (26.4%) aged 20-29 years old, and mostly had physical, developmental, and mental disabilities. The patients were introduced by their acquaintances, and the major reason for visit was specific dental care for the disabled. Most patients used their cars and took half to one hour to commute. The common factor affecting the comprehensive satisfaction was the facility satisfaction. Conclusions: A more comprehensive and standardized questionnaire should be developed for the annual evaluation of all centers. This study presents the basic data that can aid to activate the operation of the four oral health care centers for the disabled, which are scheduled to be implemented in the future, as well as 10 currently operated centers.

• The Journal of the Korea Contents Association
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• v.19 no.3
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• pp.163-170
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• 2019

The purpose of this study was to examine the reliability and validity of the K-CPQ in 299 children with developmental disorder and non-disabled children to prove their level of participation in Korean children with developmental disabilities. In order to verify the reliability of the K-CPQ, Cronbach ${\alpha}$ was calculated and Pearson correlation analysis was used for test-retest reliability test. As a result, the internal consistency(${\alpha}=.81{\sim}.90$) in each area of K-CPQ was relatively high and the Pearson correlation coefficient (r=.807~.843) in the test-retest reliability test was significant in all areas(p<.01). It showed statistically significant difference in all areas(t=2.32~5.18) in comparison with the non-disabled children group in order to verify the discriminant validity of K-CPQ. For the criterion-related validity of the K-CPQ, Pearson correlation analysis of K-SMS and K-SFA shows statistically significant static correlation(r=.817, r=743) showed(p<.01). Through this study, K-CPQ has been confirmed as a reliable and reasonable assessment tool and we expect that diverse research by K-CPQ will provide appropriate interventions for children with disabilities.

• The Journal of Korean society of community based occupational therapy
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• v.11 no.1
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• pp.23-43
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• 2021

Objective : The purpose of this study was to establish a systematic educational operation platform by collecting expert opinions so that occupational therapists can use continuing education well as a means to become professional occupational therapists in a particular field. Methods : A Delphi study was conducted with 23 experts on continuing education courses in common areas, elderly or dementia, community-based, physical rehabilitation, and developmental disabilities conducted in 2019 and 2020. The first Delphi investigated the suitability of the course as a professional continuing education and the appropriate level of education. In the second Delphi, we derived the final platform by verifying its suitability with verification of its content validity. Results : As a result, 87 items were derived for common areas, 53 items for elderly or dementia, 66 items for community-based, 66 items for physical rehabilitation, and 85 items for developmental disabilities. The main contents included the expertise needed by occupational therapists, the role in various fields, the solution of difficulties in clinical practice, and the topic of preparing for the future. Conclusion : This study was meaningful in presenting an educational operation platform for training professional occupational therapists as a basic study. It is hoped that the optimal education operation platform will be developed to strengthen professional skills of occupational therapists efficiently through future research.

• Journal of Music and Human Behavior
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• v.21 no.2
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• pp.51-75
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• 2024

This case study aimed to develop a therapeutic rap protocol based on narrative components for improving discourse skills of adolescents with mild intellectual disability (ID) and to explore its applicability. The protocol matched narrative elements (background, initiating event, internal response, attempts, and reaction) with rap components (verse, hook, and interjections), guiding participants to narrate their experiences in a connected discourse form. The protocol was also structured to gradually increase in difficulty, considering the developmental levels of adolescents with ID and it included steps for understanding discourse structures, applying narrative elements to content creation, and expanding narratives. Post-intervention analysis of the stories and rap lyrics created by participants to express their real-life experiences showed that participants increased the length of their stories and rap compositions, with notable improvements in rhythmicity and the inclusion of narrative elements. These findings suggest that, instead of constructing rap from random utterances, providing a structured framework reflecting discourse structure enhanced participants' understanding of event context and logical connections. Furthermore, the various elements and rhythmic features of rap can strengthen motivation and organization in discourse. This study highlights the therapeutic potential of rap in addressing the unique developmental needs of adolescents with mild ID, thereby diversifying and systematizing music therapy interventions for this population.

• Journal of Music and Human Behavior
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• v.21 no.2
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• pp.77-105
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• 2024

This study explored whether story-based interactive music activities improve play interactions between children with developmental disabilities (DD) and typically developing (TD) children at an integrated daycare center, and whether these activities influence TD children's attitudes towards their DD peers. The participants included six children with DD, aged 3-5 years, and 21 TD peers. They attended 10 sessions, each 30 minutes, twice a week. Play interactions were observed during free play after each session, and TD children's attitudes towards peers with DD were assessed before and after the intervention. The results showed that children with TD and DD in the integrated group showed significantly reduced disengagement, with notable improvements in joint action for TD children and joint attention for DD children. However, there were no significant changes in peer acceptance among TD children in the integrated group while there was a significant decrease in the non-integrated group. This study highlights that story-based interactive music activities effectively enhance interactions between TD and DD children. However, the limited impact on peer acceptance suggests the need for more long-term and systematic interventions, considering the children's developmental levels. The study also emphasizes the importance of tailored approaches that address the individual needs of both TD and DD children, providing valuable insights into the direction of systematic interventions at a time when the importance of social integration is increasingly recognized.

• Clinical and Experimental Pediatrics
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• v.50 no.11
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• pp.1061-1066
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• 2007

Purpose : Early identification of developmental disabilities allows intervention at the earliest possible point to improve the developmental potential. The Ages and Stages Questionnaire (ASQ), a parent- completed questionnaire, can be used as a substitute for formal screening tests. The purpose of this study was to evaluate the validity of the Korean version of the ASQ (K-ASQ) as a screening tool for detecting developmental delay of young Korean children in the setting of a busy pediatric outpatient clinic. Methods : Parents completed the K-ASQ in the waiting room of the pediatric outpatient clinic of St. Mary's Hospital, Catholic University Medical College. Out of 150 completed the ASQ, 67 who were born term and had no previous diagnosis of developmental delay, congenital anomalies, or neurological abnormalities were enrolled. The cut-off values of less than 2 standard deviations (SD) below the mean for the ASQ were used to define a "fail", and children who failed in one or more domains tested were classified as "screen-positive". Diagnosis of developmental delay was made when the developmental indices fell below -1 SD of the Bayley Scales of Infant Development-II. Results : (1) The mean age of children was $16.4{\pm}7.4$ months. Ten children (14.9%) were small-for- gestational age infants. The mean birth weight and gestational age were $3.1{\pm}0.6kg$ and $38.8{\pm}1.4$ weeks. Nine children (13.4%) were twins and 33 (49.0%) were male. The mean maternal education in years was $13.6{\pm}2.4$, and 31.3% had full-time jobs. The time for completing the ASQ was $10.2{\pm}3.0$ minutes. (2) Seventeen children (25.4%) were classified as screen-positive, four of them were delayed in development. Among eight children diagnosed with developmental delay, four were screen-positive and the other four were screen-negative by the ASQ. (3) The test characteristics of the ASQ were as follows: sensitivity (50.0%); specificity (78.0%); positive predictive value (23.5%); negative predictive value (92.0%). Conclusion : The high negative predictive value of the K-ASQ supports its use as a screening tool for developmental delay in the setting of a pediatric outpatient clinic.

• 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.

• The Journal of Korean Academy of Sensory Integration
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• v.17 no.2
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• pp.56-68
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• 2019

Objective : The purpose of this study is to provide evidence for a systematic analysis of occupational therapy interventions for the activity and participation of children and adolescents with developmental disabilities. Methods : The articles used in this study were collected from the RISS, KISS, and DBpia databases. The key words used were "children and occupational therapy" "children and sensory integration," "adolescent and occupational therapy," "adolescent and sensory integration," "developmental disorder and occupational therapy," and "developmental disorder and sensory integration." The research period was limited to January 2008 to August 2018. Seven articles in total were selected for systematic analysis. Results : Most of the included works were single-case studies, and most subjects dealt with the autism spectrum disorder. The majority of the interventions used involved sensory integration. Occupational therapy interventions were self-care (33%), major life area (33%), learning and application (11%), communication (11%), and mobility (11%). Conclusion : This study will help with understanding the current state of occupational therapy interventions for the activity and participation. On the basis of this understanding, various studies on this subject are expected to be conducted in the future.

• The Journal of the Korea Contents Association
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• v.14 no.10
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• pp.818-828
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• 2014

The purpose of this study was to investigate targets to use measurement tools to communicate developed in Korea and factors consisting of questions, to examine how measurement tools to communicate applied for AAC subjects were. In the case of measuring language and communication skills targeting people with disabilities, aphasia was out of common, in the case of applying to different types of failures, it showed rare. While factors consisting of questions on measurement tools to communicate had many factors on communication limitations and many factors on impairments in body functions that limit communication, they didn't have a lot of factors on restrictions in participation caused by communication limitations and lots of environmental factors that serve as barriers or facilitators for communication. AAC intervention was applied in the order of physical disabilities, autistic disorder, mental retardation, developmental disabilities, communication disorders, although "PPVT-R", "REVT" were widely used as measurement tools to communicate used in AAC intervention experiment, there were much more cases of relying on observation than standardized tools. Based on the results, we discussed that the need of evaluating to provide ACC application and individualized education(IEP)'s grounds and the research on evaluation criteria and measurement questions should be tried.