• Korean Journal of Psychosomatic Medicine
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• v.24 no.2
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• pp.165-173
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• 2016

Objectives : Since the awareness of autism spectrum disorders(ASD) is growing, as a result, it is increasing numbers of infants and toddlers being referred to specialized clinics for a differential diagnosis and the importance of early autism spectrum disorders detection is emphasized. This study is to know the difference between ASD and intellectual disability(ID) from comparison of the demographics, clinical characters and obstetric complications. Methods : The participants are 816 toddlers who visited the developmental delay clinic(DDC) in National Health Insurance Ilsan hospital. The number of toddlers diagnosed as ASD and ID was 324 and 492. 75 toddlers out of 114 who returned to DDC were diagnosed as ID at the first visit but 7 of them had changed diagnosis to ASD at the second visit. After compared ASD with ID from the first visit, we analyzed characters of toddlers who had the changed diagnosis to ASD at the second visit. Results : As a result, the comparison between ASD and ID at the first visit shows that the boys have higher ratio, lower obstetric complication and lower language assessment score in ASD. The toddlers who had the changed diagnosis at the second visit were all boys and they had more cases of family history of developmental delay and had lower score of receptive language developmental quotient. Conclusions : These findings suggest that sex, language characteristics and obstetric complication could be useful in the early detection of ASD.

• The Journal of Korea Assosiation for Disability and Oral Health
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• v.9 no.1
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• pp.51-55
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• 2013

Lennox-Gastaut syndrome (LGS) is a severe form of childhood epilepsy that is defined by generalized multiple type seizures, slowness of intellectual growth, and a specific EEG disturbance. Children affected might previously have infantile spasms or underlying brain disorder but etiology can be idiopathic. LGS seizures are often treatment resistant and the long term prognosis is poor. A 14-year-3-month old, 20.5 kg girl with LGS was scheduled for dental treatment under general anesthesia. The patient presented with multiple caries and heavy calculus. General anesthesia was induced and maintained with inhalation agent, Sevoflurane. And caries treatment, scaling, subgingival curretage were performed. LGS patients usually have poor oral hygiene due to mental retardation and have high risk of seizure during dental treatment. In dental treatment under general anesthesia for LGS, it must be considered of seizure control during peri-operative period. Also periodic recall check, instruction of oral hygiene must be performed.

• The Journal of Korean Academy of Sensory Integration
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• v.16 no.1
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• pp.45-55
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• 2018

Objective : The purpose of this systematic review was to inform intervention of sensory integration in adult patients and to provide evidence regarding occupational therapy. Methods : Studies for this review were collected by searching the Pubmed, Scopus, SAGE Journal, Medline, RISS database for articles from 1980 to 2017, using the following keywords: "(sensory integration OR sensory processing OR sensory integrative OR sensory based OR sensory defensiveness) AND adult" A total of 8 studies were included in the analysis. The selected papers were analyzed by using PICO (Patient, Intervention, Comparison, Outcome) framework. Results : The participants' diagnoses were learning disabilities, intellectual disability, dementia and sensory processing disorder. Assessment tools and intervention methods varied according to the researcher's intent. In most studies, sensory integration intervention was shown to be effective. Conclusion : This study was able to confirm that sensory integration intervention was available and effective for adult patients. This was intended to provide clinical evidence for occupational therapists, and further studies should be conducted to establish the application of sensory integration interventions to adults based on this study.

• The Journal of Korean Academy of Sensory Integration
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• v.13 no.1
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• pp.45-56
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• 2015

Purpose : This study aimed to critically analyze published research papers in Journal of Korean Academy of Sensory Integration and to investigate the research field and trends. Methods : Types of studies, research trends, levels of evidence, participants, funding sources and research areas were analyzed and described by using 97 selected studies published between 2003 and 2014. Results : Every 5 years, the most frequent type of study was experimental research. The numbers of experimental studies and review studies have been increasing. The most frequent level of evidence was one group non-randomized study, followed by case reports. The highest percentage of participants were children with disability and the most common diagnoses were pervasive developmental disorder, developmental delay and intellectual disabilities. Most of the participants was elementary school students and the most frequent sample size was below 10. The percentage of research grant from Korean Academy of Sensory Integration has been over 50% since 2008. The research areas focusing on the standardized assessments were mostly sensory modulation, interaction and development and the non-standardized assessments were behavior observation and clinical observation. Conclusion : Higher level of studies and comprehensive research methods will be needed. The standardized assessment tools with the high sensibility on sensory integration which developed in the domestic need to be developed. Thus, it will be able to contribute to the evidence based practice in occupational therapy.

• Clinical and Experimental Pediatrics
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• v.55 no.3
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• pp.88-92
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• 2012

Purpose: Mucopolysaccharidosis type II (MPS II or Hunter syndrome) is a rare lysosomal storage disorder caused by iduronate-2-sulfatase (IDS) deficiency. MPS II causes a wide phenotypic spectrum of symptoms ranging from mild to severe. IDS activity, which is measured in leukocyte pellets or fibroblasts, was reported to be related to clinical phenotype by Sukegawa-Hayasaka et al. Measurement of residual plasma IDS activity using a fluorometric assay is simpler than conventional measurements using skin fibroblasts or peripheral blood mononuclear cells. This is the first study to describe the relationship between plasma IDS activity and clinical phenotype of MPS II. Methods: We hypothesized that residual plasma IDS activity is related to clinical phenotype. We classified 43 Hunter syndrome patients as having attenuated or severe disease types based on clinical characteristics, especially intellectual and cognitive status. There were 27 patients with the severe type and 16 with the attenuated type. Plasma IDS activity was measured by a fluorometric enzyme assay using 4-methylumbelliferyl- ${\alpha}$-iduronate 2-sulphate. Results: Plasma IDS activity in patients with the severe type was significantly lower than that in patients with the attenuated type ($p$=0.006). The optimal cut-off value of plasma IDS activity for distinguishing the severe type from the attenuated type was 0.63 $nmol{\cdot}4hr^{-1}{\cdot}mL^{-1}$. This value had 88.2% sensitivity, 65.4% specificity, and an area under receiver-operator characteristics (ROC) curve of 0.768 (ROC curve analysis; $p$=0.003). Conclusion: These results show that the mild phenotype may be related to residual lysosomal enzyme activity.

• International journal of advanced smart convergence
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• v.9 no.1
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• pp.54-62
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• 2020

According to the Ministry of Health and Welfare, "Status of Registered Persons with Disabilities", the number of people with disabilities is 2,494,460 as of 2015. The lowest rates of children with disabilities were intellectual disabilities (23%) and mental disorders (33.3%). The highest rates of screening were blindness (97%), heart failure (94.4%), and hearing impairment (92.7%). 65.2% of visually impaired people who have already had a disability at the time of marriage, and the remaining 34.8% can be thought to be the cause of high incidence of disability after marriage. 'SID (Seed in the Dark)' project was designed to recapture the visually impaired parent's desire for attachment and the space difficulties of the blind who want to be a normal parent to their children through a visual impairment of a father with 7-year-old daughter. Using Gear VR(Virtual Reality), the general public was able to feel the surroundings as if they had no vision and focused on the hearing. Especially, We expressed the sound wave visually and added the hilarious game element which grasps the terrain of the maze by sound wave like a 'blind person who perceives the surroundings by sound' and catches up with daughter. People with disabilities who are far from mental illness often have a form of family with children. The fact that the rate of childbirth is high means that there is relatively little problem in daily life. It is wondered that the rate of blindness among the visually impaired, which accounts for 10% of the total disabled, is the highest at 97%. This is because, in the case of the visually impaired, the obstacle is often caused by aging, accidents, or diseases due to inherited causes rather than the visual disorder. In particular, However, the fact that there is an obstacle in vision that accounts for 83% of the body's sensory organs causes other difficulties in the nursing process of children who are non-disabled. Parents do not know the face of child when their visual impairment is severe. Parents are extremely anxious about worry that they will be lost or abducted if their children are not by their side. And that the child recognizes the disability of his or her parents other than the other parents easily and takes it as a deficiency. Since visually impaired parents are mentally mature parents with non-disabled people, they may want their children not to feel deprived of their disability. The number of people with visual impairments has been increasing since 2001, and people with impairments often become disabled. In addition, there is much research on the problem of nondisabled parents who have children with disabilities, while there is relatively little interest and research on the problem of nondisabled child rearing of parents with disabilities.

• 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.

• Korean Journal of Psychosomatic Medicine
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• v.28 no.2
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• pp.99-107
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• 2020

Fibromyalgia is a disorder characterized by the core symptom of chronic widespread pain, along with fatigue, sleep disturbances, mood changes, and cognitive difficulties. The etiology of fibromyalgia involves a combination of biological factors, such as genetic vulnerability, alterations in pain processing and stress response system ; psychological factors, such as anxiety, depression, anger, and perceived stress ; environmental factors, such as infections, febrile diseases, and trauma. Central sensitization, which is amplified in the process of sensory stimulation, has been emphasized as a key etiological factor, as supported by enhanced wind-up, delayed aftersensation, decreased nociceptive flexion reflex threshold and functional imaging studies. Several guidelines recommend that a multimodal approach be used to treat fibromyalgia, including both pharmacological and non-pharmacological treatments, tailored to each individual, and that clinicians should provide an intellectual framework through sufficient education and emphasis on the importance of self-management. The prevalence of mood disorders, anxiety disorders, and other psychiatric problems is 7-9 times higher in patients with fibromyalgia than in the general population ; moreover, the association between fibromyalgia and certain psychopathologies or sleep problems has also been suggested. Since psychiatric problems, with shared vulnerabilities and risk factors, interact with fibromyalgia bidirectionally and also affect the disease course, an integrated management approach is needed to determine the risk of comorbidities.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.18 no.3
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• pp.99-106
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• 2018

Mucolipidosis type III (pseudo-Hurler polydystrophy) is a mucolipids degrading disorder caused by a mutation in the GNPTAB gene and is inherited by autosomal recessive. It is diagnosed by examining highly concentrated mucolipids in blood and the diagnosis can be confirmed by genetic testing. Mucolipidosis type III is a rare and progressive metabolic disorder. Its initial signs and symptoms usually occur around 3 years of age. Clinical manifestations of the disease include slow growth, joint stiffness, arthralgia, skeletal abnormalities, heart valve abnormalities, recurrent respiratory infection, distinctive facial features, and mild intellectual disability. Here, we are presenting two siblings of mucolipidosis type III, a 4-year-old female and a 2 years and 7 months old male with features of delayed growth and coarse face. The diagnosis was confirmed by [c.2715+1G>A(p.Glu906Leufs*4), c.2544del(p.Glu849Lysfs*22)] mutation in targeted gene panel sequencing. In this case, c.2544del is a heterozygote newly identified mutation in mucolipidosis type III and was not found in the control group including the genome aggregation database. And it is interpreted as a pathogenic variant considering the association with phenotype. Here, we report a Korean mucolipidosis type III patients with novel mutations in GNPTAB gene who have been treated since early childhood. Owing to recent development of molecular genetic techniques, it was possible to make early diagnosis and treatment with pamidronate was initiated appropriately in case 1. In addition to these supportive therapies, efforts must be made to develop fundamental treatment for patients with early diagnosis of mucolipidosis.

• Journal of Preventive Medicine and Public Health
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• v.26 no.4 s.44
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• pp.628-649
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• 1993

This study was conducted to investigate the factors related to the poor school performance of the elementary school children. Two schools in Taegu, one in the affluent area and the other in the poor area, were selected and a total of 175 children whose school performance was within low 10 percentile (poor performers) and 97 children whose school performance were within high 5 percentile (good performers) in each class of 2nd, 4th and 6th grades were tested for the physical health, behavioral problem and family background. Each child had gone through a battery of tests including visual and hearing acuity, anthropometry (body weight, height, head circumference), intelligence (Kodae Stanford-Binet test), test anxiety (TAI-K), neurologic examination by a developmental pediatrician and heavy metal content (Pb, Cd, Zn) in hair by atomic absorption spectrophotometry. A questionnaire was administered to the mothers for prenatal and prenatal courses of the child, family environment, child's developmental history, and child's behavioral and learning problems. Another questionnaire was administered to the teachers of the children for the child's family background, arithmatic & language abilities and behavioral problem. The poor school performance had a significant correlation with male gender, high birth order, broken home, low educational and occupational levels of parents, visual problem, high test anxiety score, attention deficit hyperactivity disorder (ADHD), poor physical growth (weight, height, head circumference) and low I.Q. score. The factors that had a significant correlation with the poor school performance in multiple logistic regression analysis were child's birth order (odds ratio=2.06), male gender(odds ratio=5.91), broken home(odds ratio=9.29), test anxiety score(odds ratio=1.07), ADHD (odds ratio=9.67), I.Q. score (odds ratio=0.85) and height less than Korean standard mean-1S.D.(odds ratio=11.12). The heavy metal contents in hair did not show any significant correlation with poor school performance. However the lead and cadmium contents were high in males than in females. The lead content was negatively correlated with child's grade(P<0.05) and zinc was positively correlated with grade (P<0.05). among the factors that showed a significant correlation with the poor school performance, high birth order, short stature and ADHD may be modified by a good family planning, good feeding practice for infant and child, and early detection and treatment of ADHD. Also, teacher and parents should restrain themselves from inducing excessive test anxiety by forcing the child to study and over-expecting beyond the child's intellectual capability.