• 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 Music and Human Behavior
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• v.6 no.2
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• pp.25-41
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• 2009

The purpose of this case study is to examine how group rhythmic playing can help enhance imitation skills for 3 children with developmental disabilities aged between 30-50 months. The program was composed of social musical play, the therapist's imitating the way young children played musical instruments, and the young children's imitating the way the therapist played musical instruments. Every session was videotaped, and the researcher and two music therapists checked the videotaped sessions to ensure the reliability of findings. The case study demonstrated the following results. First, the three young children who participated in the playing of rhythmic musical instruments showed an increase in imitation behaviors. Second, the infants exhibited the greatest change from 1 beat imitation according to the degree of difficulty of group rhythm musical instrument demonstrated. Third, the most radical change in the infants' ability to imitate appeared in Sessions 3-7 where the therapist imitated the operation and a performance of the infant. In conclusion, the activity of playing rhythmic musical instruments in a group generated improvement in the imitation ability of young children with developmental disabilities.

• Korean Journal of Family Social Work
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• no.59
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• pp.81-112
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• 2018

The aim of this study was to suggest family support plan based on the results of this study in order to reduce or buffer the caregiving burden experienced by mothers of adults with developmental disabilities. This study conducted in-dept interview targeting 5 mothers of adults with developmental disabilities using daycare center operated by 2 rehabilitation center for the persons with disabilities and 3 social welfare center in B metropolitan city. The caregiving burden experienced by participants were classified into 3 categories, 9 sub-categories and 19 subjects. The family support plan for reducing the caregiving burden of adults with developmental disabilities and their families were discussed and political and practical plan were suggested based on the results.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.33 no.1
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• pp.16-23
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• 2022

Objectives: Early detection of developmental issues in infants and necessary intervention are important. To identify the comorbid conditions, a comprehensive evaluation is required. The study's objectives were to 1) generate scale items by identifying and eliciting concepts relevant to young children (12-71 months) with developmental delays, 2) develop a comprehensive screening tool for developmental delay and comorbid conditions, and 3) assess the tool's validity and cut-off. Methods: Multidisciplinary experts devised the "Infant Comprehensive Evaluation for Neurodevelopmental Delay (ICEND)," an assessment method that comes in two versions depending on the age of the child: 12-36 months and 37-71 months, through monthly seminars and focused group interviews. The ICEND is composed of three parts: risk factors, resilience factors, and clinical scales. In parts 1 and 2, there were 41 caretakers responded to the questionnaires. Part 3 involved clinicians evaluating ten subscales using 98 and 114 questionnaires for younger and older versions, respectively. The Child Behavior Checklist, Strengths and Difficulties Questionnaire, Infant-Toddler Social Emotional Assessment, and Korean Developmental Screening Test for Infants and Children were employed to analyze concurrent validity with the ICEND. The analyses were performed on both typical and high-risk infants to identify concurrent validity, reliability, and cut-off scores. Results: A total of 296 people participated in the study, with 57 of them being high-risk (19.2%). The Cronbach's alpha was positive (0.533-0.928). In the majority of domains, the ICEND demonstrated a fair discriminatory ability, with a sensitivity of 0.5-0.7 and specificity 0.7-0.9. Conclusion: The ICEND is reliable and valid, indicating its potential as an auxiliary tool for assessing neurodevelopmental delay and comorbid conditions in children aged 12-36 months and 37-71 months.

• Therapeutic Science for Rehabilitation
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• v.10 no.2
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• pp.37-51
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• 2021

Objective : The purpose of this study was to analyze non-invasive treatments and drooling assessment methods in children with cerebral palsy and developmental disabilities, who drool. Methods : This study searched two hundred papers published in 2005-2019. Forty-four papers were selected based on their abstract and title, and ten papers were finally selected following a secondary search. Results : The PEDro Scale of the selected papers was high with an average of seven points. As a result of analyzing the overall trends, the study participants were primarily patients with cerebral palsy, and recently, the therapeutic intervention of oral sensory exercise was more actively studied than behavioral modification. Studies of behavioral modification and oral sensory exercise intervention methods were found to have differences in participant age and, cognitive level, number of participants, research design, treatment time, and duration. Studies to confirming the frequency and severity of the drooling measurement method were found to be the main factor. Conclusion : This study analyzed typical behavioral modification and oral sensory exercise interventions as examples of non-invasive therapeutic interventions for children with cerebral palsy and developmental disabilities and provided information to help select appropriate therapeutic intervention methods when planning non-invasive therapy using behavioral modification and oral sensory exercise therapy.

• The Journal of Korean society of community based occupational therapy
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• v.7 no.3
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• pp.23-34
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• 2017

Objective : The purpose of this study was to investigate establishment status of the mandatory courses designated by Ministry of Health & Welfare for qualification of sensory developmental rehabilitation specialist(SDRS), within curriculum of baccalaureate occupational therapy(BOT) programs in Korea Methods : This is a narrative study to investigate and analyze certain courses established in curriculums of all 4-years occupational therapy(OT) programs, which is 32 schools. Results : 1) The shared mandatory subject, 'Understanding Children with Disabilities(UDC)', has been established at 9 schools. For the branch mandatory subjects, 'Neuroscience(NS) or Neuroanatomy' has been established at all 32 schools, 'Sensory Processing Dysfunctions and Intervention(SPDI)' or 'Sensory Integration' has been established at 31 schools, and each of 'Assessment & Evaluation for Children(AEC)' and 'Practicum of Sensory Rehabilitation(PSR)' has been established 7 schools for same. 2) For the mandatory courses, all 32 schools were offering designated- and alternative courses of NS, SPDI, AEC, but there was no change in the number of schools offering the practicum course since there was no case of alterative for it. 3) In terms of general provision score, there were 4 schools for score 7, 4 schools for score 6, 2 schools for score 5, 1 schools for score 4, 2 schools for score 3, and 19 schools for score 2. Conclusion : Establishment of the mandatory courses required to the qualification of SDRS among the BOT programs in nation were investigated. Including alternative courses, all the branch mandatory courses except practicum course are established in all the 32 schools. However, the shared mandatory subject, UDC and the practicum subject were established in only few schools. In the provision level evaluation of BOT programs for the SDRS qualification, it is shown that many schools has been started the provision already but still many schools' curriculum did not reflect the willingness and accuracy well. For the schools planning successful accreditation in near future, it is recommended that they prioritize the establishment of the shared mandatory course and the practicum course since these two subjects are recognized as critical factors for that. In addition, it is also needed of comparative inspections for course title and syllabi based on the guideline provided by Ministry of Health & Welfare.

• BMB Reports
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• v.50 no.10
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• pp.487-495
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• 2017

Mammalian inner ear comprises of six sensory organs; cochlea, utricle, saccule, and three semicircular canals. The cochlea contains sensory epithelium known as the organ of Corti which senses sound through mechanosensory hair cells. Mammalian inner ear undergoes series of morphogenesis during development beginning thickening of ectoderm nearby hindbrain. These events require tight regulation of multiple signaling cascades including FGF, Wnt, Notch and Bmp signaling. In this review, we will discuss the role of newly emerging signaling, FGF signaling, for its roles required for cochlear development.

• The Korean Journal of Rehabilitation Nursing
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• v.12 no.1
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• pp.39-46
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• 2009

Purpose: The purpose of this study was to identify the level of burden and social support of mothers with Cerebral Palsy (CP) children, and to determine whether providing social support is an effective strategy to relieve the burden of those mothers. Method: From October to November 2007, the data were collected from 63 mothers with CP children who were admitted and treated for CP at Y rehabilitation center in Seoul. The data were analyzed with t-test, ANOVA, Scheffe's test, Pearson's Correlation Coefficient, and Stepwise Multiple Regression using SPSS 12.0. Results: Burden of mothers was related to the Gross Motor Function Classification System (GMFCS) of the CP children. Social support was negatively correlated and GMFCS was positively correlated with burden of mothers. Social support and GMFCS was statistically significantly related with burden of mothers with CP children by multiple regression analysis. Conclusion: There was a significantly negative correlation between social support and burden. It demonstrated that social support, an important factor relating to burden imposed on mothers of CP children, can be considered as an intervening variable which can contribute to decrease of burden. In addition, applying developmental screening measures are needed to decrease disability severity.

• Physical Therapy Korea
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• v.2 no.1
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• pp.21-35
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• 1995

This study was done to determine a new qualitative base for educating and evaluating patients by comparing a 60 or over age group with a 20-30 age group when rising from supine to erect stance. Sixty normal adults were devided into 60 or over and 20-30 aged groups. Each persons was asked to standing from the supine position. This process was recorded by two video cameras. The results was classified into the three existing movement categories. And then they were analyzed by percent rate. The results showed that each group had its own different and special characteristics. This means that physical therapists need to select the best motor patterns according to age in teaching functional tasks such as rising from supine to erect stance.

• 대한예방의학회:학술대회논문집
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• 2002.10a
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• pp.506-507
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• 2002