• Clinical and Experimental Pediatrics
• /
• v.58 no.1
• /
• pp.8-14
• /
• 2015

In patients with a language developmental delay, it is necessary to make a differential diagnosis for autism spectrum disorders (ASDs), specific language impairment, and mental retardation. It is important that pediatricians recognize the signs and symptoms of ASDs, as many patients with language developmental delays are ultimately diagnosed with ASDs. Pediatricians play an important role in the early recognition of ASDs, because they are usually the first point of contact for children with ASDs. A revision of the diagnostic criteria of ASDs was proposed in the Diagnostic and Statistical Manual of Mental Disorders, fifth edition (DSM-5) that was released in May 2013. The autism spectrum describes a range of conditions classified as neurodevelopmental disorders in the fifth edition of the DSM. The new diagnostic criteria encompasses previous elements from the diagnosis of autistic disorder, Asperger disorder, childhood disintegrative disorder, and pervasive developmental disorder-not otherwise specified. An additional change to the DSM includes synthesizing the section on social and communication deficits into one domain. In ASD patients, the appropriate behavioral therapies and rehabilitation treatments significantly affect the prognosis. Therefore, this makes early diagnosis and treatment very important. In conclusion, pediatricians need to be able to recognize the signs and symptoms of ASDs and be attentive to them in order to make an early diagnosis and provide treatment.

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

• Therapeutic Science for Rehabilitation
• /
• v.12 no.3
• /
• pp.7-18
• /
• 2023

Objective : This study aimed to confirm the research characteristics by analyzing the literature that applied the school readiness programs for children with disabilities. Methods : Studies were collected from the PubMed, Embase, Web of Science, and Research Information Sharing Service databases. The key terms were "School readiness" AND ("Occupational Therapy" OR "Rehabilitation") in English and Korean. Total eight articles were selected through the selection and exclusion criteria. Results : The programs included multi-type training, motor skill training, parent training, and mobile application training. The providers were psychologists, occupational therapists, physical therapists, speech pathologists, community workers, educators, and the psychologists who conducted most of the research. The program factors can be classified into academic function, motor function, social function, parental training, and others. Academic and social functions accounted for the largest proportion of the respondents. The intervention improved multiple skills, literacy, parenting skills, and gross fine motor function. Conclusion : This study aimed to provide basic data for school-based occupational therapy by analyzing school readiness programs for children with disabilities. Recently, interest in and research on school readiness has increased. Occupational therapists should also establish their roles in the field of school-related rehabilitation and provide various school-based occupational therapies.

• 재활복지
• /
• v.21 no.3
• /
• pp.1-22
• /
• 2017

Although not many older Korean parents who take care of children with intellectual disabilities have been reported depression due to care-giving related stresses, little is known about how they could be protected from this. This study examines whether satisfaction with family relationships moderate the relationships between time demands, caregiving stress, and depression of older parents who take care of children with intellectual disabilities. The analyses were conducted based on data from the Korean National Survey on Individuals with Developmental Disabilities and their Families of 2011, and only a total of 276 parents, aged over 60 were examined. Multiple regression analysis shows that older parents with higher level of satisfaction with family relationships were less likely to be influenced by time demands of care-giving. This indicates that satisfaction with family relationships could buffer the relationships between time demands of care-giving, and depression. This finding suggests that satisfaction with family relationships is a protective factor, buffering the negative effects of time demands of care-giving and depression. This supports 'socio-emotional selectivity theory' which family relationships are important to older people. Therefore, it is highly recommended to develop practical intervention that can improve the level of satisfaction of family relationship of the older parents, and to make policy and institutional supplementation.

• Therapeutic Science for Rehabilitation
• /
• v.10 no.2
• /
• pp.37-51
• /
• 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 Academy of Sensory Integration
• /
• v.17 no.2
• /
• pp.56-68
• /
• 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.

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

• Clinical and Experimental Pediatrics
• /
• v.58 no.4
• /
• pp.117-122
• /
• 2015

Global developmental delay (GDD) is a relatively common early-onset chronic neurological condition, which may have prenatal, perinatal, postnatal, or undetermined causes. Family history, physical and neurological examinations, and detailed history of environmental risk factors might suggest a specific disease. However, diagnostic laboratory tests, brain imaging, and other evidence-based evaluations are necessary in most cases to elucidate the causes. Diagnosis of GDD has recently improved because of remarkable advances in genetic technology, but this is an exhaustive and expensive evaluation that may not lead to therapeutic benefits in the majority of GDD patients. Inborn metabolic errors are one of the main targets for the treatment of GDD, although only a small proportion of GDD patients have this type of error. Nevertheless, diagnosis is often challenging because the phenotypes of many genetic or metabolic diseases often overlap, and their clinical spectra are much broader than currently known. Appropriate and cost-effective strategies including up-to-date information for the early identification of the "treatable" causes of GDD are needed for the development of well-timed therapeutic applications with the potential to improve neurodevelopmental outcomes.

• Journal of the Korean Applied Science and Technology
• /
• v.36 no.4
• /
• pp.1385-1398
• /
• 2019

This study was a survey study to provide the base data necessary to prepare efficient management plans for the mothers with disabled children by type, comparing degrees of disability acceptance, stress, coping method and wellness between mothers with physical functional disordered children and developmental disordered children. The study subjects were a mother who raises disordered children. Data collection was conducted from October 2018 to April 2019, and differences between the two groups were analyzed as t-test, ANOVA, and Pearson correlation. In results, Studies have shown that there are differences between the two groups as mothers with physical functional disordered children and mothers with developmental disordered children as degrees of disability acceptance, stress, treatment and wellness. Disability acceptance and coping method of mothers with physical functional disordered children (r=0.23, p=.033), disability acceptance and Wellness (r=0.51, p<.001) have shown positive correlations and disability acceptance and stress (r=-0.72, p<.001) have shown negative correlations. Disability acceptance and wellness (r=0.40, p<.001) of the mother with a developmental disordered child have shown a significant positive correlation, and disability acceptance and stress (r=-0.71, p<.001) have shown a significant negative correlations. The higher the degree of disability acceptance, the lower the stress level and the higher the coping method and wellness mothers with physical functional disordered children had. The higher disability acceptance, the lower stress degrees and the higher wellness degrees mothers with developmental disordered children had. In order to improve disability acceptance by mothers with physical functional disordered children, it was necessary to improve both coping methods and wellness with stress reducing strategy, while the mother with developmental disordered children were needed strategies to reduce stress and improve wellness.

• Clinical and Experimental Pediatrics
• /
• v.57 no.3
• /
• pp.140-148
• /
• 2014

Purpose: Lowe syndrome is a rare, X-linked recessive disorder caused by mutations in the OCRL gene. It involves multiple anatomic systems, particularly the eyes, central nervous system, and kidneys, and leads to profound growth failure and global developmental delay. This study evaluated the clinical and genetic characteristics of Korean patients with Lowe syndrome. Methods: The clinical findings and results of genetic studies were reviewed for 12 male patients diagnosed with Lowe syndrome at a single medical institution. Results: The mean age of the patients at presentation was 2.2 months (range, 0-4 months), although the diagnosis was delayed by a mean of 2.8 years (range, 0-9.7 years). The mean follow-up period was 9.0 years (range, 0.6-16.7 years). Nine mutations in OCRL were identified in 11 patients (92%), with three novel mutations. The main presentation was congenital cataract in both eyes necessitating early cataract removal in the 11 patients with impaired visual acuity. Profound short stature and developmental delay were observed in all patients, and seizures occurred in 50% of the patients. All patients suffered from proximal renal tubular dysfunction, and one patient developed chronic renal failure. Other manifestations included pathologic fracture (50%), cutaneous cysts (42%), and cryptorchidism (42%). However, there was no bleeding tendency, and none of the patients died during the study period. Conclusion: This study describes the clinical and genetic characteristics of Korean patients with Lowe syndrome. The observations are helpful for understanding the natural courses of Lowe syndrome and for appropriate genetic counseling.