• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.32 no.1
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• pp.35-40
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• 2021

Objectives: Among the many intervention programs for children with autism spectrum disorder (ASD), the Early Start Denver Model (ESDM) is one of the few approaches that has succeeded in demonstrating clinical efficacy in randomized control trials. Here, we investigate the clinical efficacy of ESDM intervention in young children with ASD in a community setting within Japan. Methods: All subjects were children with ASD who received ESDM intervention during the study period. Each ESDM session lasted 75 min and occurred once per week for at least 12 weeks. The outcome measures consisted of the Kyoto Scale of Psychological Development (K-test), Aberrant Behavior Checklist-Japanese version (ABC-J), and the Clinical Global Impression-Severity scale (CGI-S). Results: Twenty-seven subjects (29.4±6.4 months old) received ESDM intervention that lasted for 8.0±2.6 months on average. The score on Language and Social developmental quotient on the K-test increased significantly after the intervention. The total scores on the ABC-J and CGI-S significantly decreased after completion of the ESDM intervention. Conclusion: Our results suggest that ESDM intervention could reduce the severity of distinct clinical features of ASD, such as impairments in social interaction and communication assessed by the K-test, and maladaptive behavior rated by the ABC-J and CGI-S. We believe that the ESDM adapted to each institution might become one of the standard options for children with ASD in Japan.

• Journal of Microbiology and Biotechnology
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• v.32 no.6
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• pp.699-708
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• 2022

Antibiotic exposure during pregnancy have an adversely effects on offspring behavior and development. However, its mechanism is still poorly understood. To uncover this, we added ceftriaxone sodium to the drinking water of rats during pregnancy and conducted three-chamber sociability test, open-field test, and Morris water maze test in 3- and 6-week-old offspring. The antibiotic group offspring showed lower sociability and spatial learning and memory than control. To determine the role of the gut microbiota and their metabolites in the changes in offspring behavior, fecal samples of 6-week-old offspring rats were sequenced. The composition of dominant gut microbial taxa differed between the control and antibiotic groups. KEGG pathway analysis showed that S24-7 exerted its effects through the metabolic pathways including mineral absorption, protein digestion and absorption, Valine, leucine, and isoleucine biosynthesis. Correlation analysis showed that S24-7 abundance was negatively correlated with the level of VEGF, and metabolites associated with S24-7-including 3-aminobutanoic acid, dacarbazine, L-leucine, 3-ketosphinganine, 1-methylnicotinamide, and N-acetyl-L-glutamate-were also significantly correlated with VEGF levels. The findings suggest that antibiotic exposure during pregnancy, specifically ceftriaxone sodium, will adversely affects the behavior of offspring rats due to the imbalance of gut microbiota, especially S24-7, via VEGF and various metabolic pathways.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.5 no.1
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• pp.62-67
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• 2002

Purpose: The aim of this study was to investigate the age of onset and the prevalence of lactose malabsorption in early childhood in Korea. Methods: We conducted a study of lactose malabsorption by breath hydrogen test in healthy children aged between 25~96 months old. Standard lactose loading (2 g lactose/kg, maximum 40g) test was done in 129 children and cow's milk (10 mL/kg) loading in 126 children followed by breath sampling of 60 and 120 minutes after the loading. An increase above baseline of 20 ppm or more was used as a criteria for positive responses. Results: The prevalence of lactose malabsorption was 7% in 25~36 months old, 19% in 37~48 months old, 35% in 49~60 months old, 55% in 61~72 months old, 82% in 72~84 months old, 80% in 85~96 months old children. Only 1% of the children showed positive result in breath hydrogen test after the cow's milk challenge. Conclusion: The prevalence of lactose malabsorption was increased between 37 months and 60 months of age, reached to adult level of prevalence after 72 months of age. When physiological dose of lactose was used as the challenge, the number of lactose malabsorbers become clinically insignificant.

• Journal of Genetic Medicine
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• v.16 no.2
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• pp.67-70
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• 2019

Limb-girdle muscular dystrophy (LGMD) is a group of muscular dystrophies that has extremely heterogeneous clinical features and genetic background. The caveolin-3 gene (CAV3) is one of the causative genes. LGMD appears as a clinical continuum, from isolated skeletal muscle involvement to long QT syndrome. Here we report two patients without apparent muscle weakness in a family with CAV3 mutation. A 7-month-old Korean boy visited our muscle clinic because of an incidental finding of elevated serum creatine kinase (CK) concentration (680 IU/L, reference range, 20-270 IU/L) without clinical symptoms. The patient was born after an uneventful pregnancy and showed normal developmental milestones. He developed pseudohypertrophy of his calf muscle during the follow-up. We obtained a muscle biopsy at age 14 months, which showed size variations and degenerating/regenerating myofibers with endomysial fibrosis and immunohistochemical evidence of normal dystrophin. Under the impression of LGMD, we performed target panel sequencing and identified a heterozygous in-frame mutation of CAV3, c.307_312delGTGGTG (p.Val103_Val104del). Immunohistochemical staining of muscle indicated complete loss of caveolin-3 compared with normal control muscle, which supported the variant's pathogenicity. We performed segregation analysis and found that the patient's mother had the same variant with elevated serum CK level (972 IU/L). We report on autosomal dominant familial caveolinopathy caused by a pathogenic variant in CAV3, which was asymptomatic until the fourth decade. This case highlights the utility of next generation sequencing in the diagnosis of muscular dystrophies and the additive role of muscle biopsy to confirm the variants.

• Child Health Nursing Research
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• v.21 no.2
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• pp.123-130
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• 2015

Purpose: The purpose of this study was to understand the intellectual and psychological features of children with Moyamoya disease who were patients in the Department of Pediatric Neurosurgery of Severance Hospital. Methods: From December 2010 through December 2012, 63 patients with diagnoses of Moyamoya disease and 59 children in a normal group were enrolled. This study was conducted using the Korean-Wechsler Intelligence Scale for Children, Rey-Kim Memory Test for children, Korean Child Behavior Checklist and Pediatric Quality of Life Inventory$^{TM}$4.0. Results: The results showed that the intellectual and psychological profiles of children with Moyamoya disease were lower than the average of the normal control group. The tested patients showed significantly lower scores for Performance Intelligence Quotient cognition level. Also, in terms of quality of life, children with Moyamoya disease had lower levels of physical and school functionality. The results were in line with those of previous studies involving psychological tests of children with chronic diseases. Conclusion: Considering the intellectual and psychological characteristics of children with Moyamoya disease, integrated psychological intervention plans including elements such as supportive therapy for patients and programs for parental education are required.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.23 no.3
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• pp.286-296
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• 2020

Purpose: Inflammatory bowel disease (IBD) in children and adolescents is associated with high morbidity and possibly has a significant negative impact on their quality of life. This study aimed to evaluate the quality of life of children and adolescents with IBD and define the variables that impact these individuals. Methods: We administered the Pediatric Quality of Life Questionnaire (PedsQL) to 35 children and adolescents diagnosed with IBD and with available quantitative data from clinical records on epidemiology, clinical evolution, complementary tests, medical interventions, and disease activity. Data were evaluated according to the IBD type and compared with a control group of healthy children. Results: The study group showed a significantly lower PedsQL score than the control group (p<0.01). Significant factors contributing to poor overall quality of life included female sex, Crohn's disease, surgery, and food restrictions. Symptoms such as diarrhea and the fear of using public toilets were associated with low physical scores. Feeling sick had a negative impact on the emotional PedsQL scores. Patients with a fear of using public toilets, anthropometric scores below the 3rd percentile, and greater disease activity scored lower in the social domain. Regarding school and psychosocial evaluations, younger children with symptom onset after the age of 2 years had lower scores than younger children with symptom onset before the age of 2 years. Conclusion: IBD negatively affects the quality of life of children and adolescents based on its impact on the physical, emotional, social, and psychosocial statuses of these patients.

• Child Health Nursing Research
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• v.18 no.1
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• pp.9-18
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• 2012

Purpose: This study was conducted to analyze factors affecting readmission of children with home ventilator care. Methods: To collect patient data, a retrospective chart review was done of medical records of children admitted between June 1, 2007 and May 31, 2010 at one children's hospital located in Seoul. During that period 30 children were discharged with a home ventilator. Results: Twenty-one of these children had a total of 63 readmissions during the study period, averaging 2.1 readmissions per child with a mean duration of hospitalization of 7.4 days. Children with nasogastric tubes were more frequently readmitted (t=7.232, p=.012) and duration of hospitalization was significantly longer (t=4.761, p=.038). Children who had cardio-pulmonary comorbidity were more frequently readmitted and had longer hospitalization than children without comorbidity (t=5.444, p=.027). When home ventilator assisted children were admitted via emergency room, they were hospitalized longer (t=14.686, p=<.001). Cardio-pulmonary morbidity and readmission via ER explained 38.1% of variation for readmission. Feeding method explained 15.0% of variation in length of hospitalization. Conclusion: The results suggest that health care providers must give individualized education on home ventilator care to parents with children who are at risk for readmission due to cardio-pulmonary comorbidities, nasogastric tube, or readmission via ER.

• Childhood Kidney Diseases
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• v.24 no.1
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• pp.58-61
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• 2020

Pseudohypoaldosteronism type 1 (PHA1) is a rare salt-wasting disorder caused by resistance to mineralocorticoid action. PHA1 is of two types with different levels of disease severity and phenotype as follows: systemic type with an autosomal recessive inheritance (caused by mutations of the epithelial sodium channel) and renal type with an autosomal dominant inheritance (caused by mutations in the mineralocorticoid receptor). The clinical manifestations of PHA1 vary widely; however, PHA1 commonly involves hyponatremia, hyperkalemia, metabolic acidosis and elevated levels of renin and aldosterone. The earliest signs of both type of PAH1 also comprise insufficiency weight gain due to chronic dehydration and failure to thrive during infancy. Here, we report a case of renal PAH1 in a 28-day-old male infant harboring a novel heterozygous mutation in NR3C2 gene (c.1341_1345dupAAACC in exon 2), showing only failure to thrive without the characteristic of dehydration.

• Childhood Kidney Diseases
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• v.24 no.1
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• pp.27-35
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• 2020

Purpose: Urinary tract infections (UTIs) are the most common and serious bacterial infections in children. Therefore, early diagnosis of vesicoureteral reflux (VUR) for treatment planning and the identification of noninvasive markers that can predict renal injury are important in patients with UTIs. We analyzed the clinical features of pediatric UTIs commonly encountered by general practitioners and reinterpreted the blood tests and imaging findings to identify the important clinical predictive markers of VUR in order to selectively perform VCUG. Methods: This retrospective study was performed among 183 children diagnosed with a UTI or acute pyelonephritis. Results: The most significant predictor of high grade and bilateral VUR identified using area under the curve analyses was hydronephrosis on kidney ultrasound images with renal cortical defects on dimercaptosuccinic acid (DMSA) kidney scan simultaneously, followed by hydronephrosis only on kidney ultrasound. Conclusion: The presence of hydronephrosis on kidney ultrasound images or cortical defects or asymmetric kidneys on the DMSA kidney scans can be predictive markers of VUR, reducing the need for VCUG. Our study can thus help minimize the exposure to radiation among patients through selective VCUG.

• Childhood Kidney Diseases
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• v.22 no.2
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• pp.67-70
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• 2018

Primary polydipsia (PP) is marked by an increase in thirst, and most often presents in patients with psychiatric illnesses. Although uncommon in children, we experienced cases of PP in a 15-month-old boy and a 5-year-old girl. Both were admitted to the hospital with symptoms of polydipsia and polyuria that appeared 1-3 months before admission. Brain magnetic resonance imaging in both patients was normal. A water restriction test was performed after hospitalization and showed normal results. The symptoms improved after the parents were instructed to implement water-intake restriction for 2 weeks. Our report provides useful information for the treatment of PP in children.