• Pediatric Infection and Vaccine
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• v.25 no.1
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• pp.45-49
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• 2018

Group B streptococcus (GBS) is the leading cause of neonatal morbidity and mortality. Late-onset GBS disease commonly manifests as occult bacteremia or meningitis. Approximately 50% of survivors of late-onset meningitis have long-term neurologic sequelae. Cerebrovascular complications are often associated with unfavorable clinical outcomes of GBS meningitis. There have been a few reports of cerebral infarction accompanied by GBS meningitis. We report a 29-day-old girl with severe, widespread cerebral infarction due to late-onset GBS meningitis. Isolated GBS strain from this patient was serotype III, ST-19. Currently, she has cortical blindness and significant developmental delay.

• Journal of Genetic Medicine
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• v.7 no.2
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• pp.111-118
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• 2010

Chromosomal microarray analysis (CMA) enables the genome-wide detection of submicroscopic chromosomal imbalances with greater precision and accuracy. In most other countries, CMA is now a commonly used clinical diagnostic test, replacing conventional cytogenetics or targeted detection such as FISH or PCR-based methods. Recently, some consensus statements have proposed utilization of CMA as a first-line test in patients with multiple congenital anomalies not specific to a well-delineated genetic syndrome, developmental delay/intellectual disability, or autism spectrum disorders. CMA can be used as an adjunct to conventional cytogenetics to identify chromosomal abnormalities observed in G-banding analysis in constitutional or acquired cases, leading to a more accurate and comprehensive assessment of chromosomal aberrations. Although CMA has distinct advantages, there are several limitations, including its inability to detect balanced chromosomal rearrangements and low-level mosaicism, its interpretation of copy number variants of uncertain clinical significance, and significantly higher costs. For these reasons, CMA is not currently a replacement for conventional cytogenetics in prenatal diagnosis. In clinical applications of CMA, knowledge and experience based on genetics and cytogenetics are required for data analysis and interpretation, and appropriate follow-up with genetic counseling is recommended.

• Journal of Genetic Medicine
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• v.9 no.1
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• pp.42-46
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• 2012

Short-chain acyl-CoA dehydrogenase deficiency (SCADD; OMIM # 201470) is an autosomal recessive inborn error of mitochondrial fatty acid ${\beta}$-oxidation, presenting with a variety of clinical signs and symptoms. Developmental delay, hypertonia or hypotonia, ketotic hypoglycemia, and epilepsy are most frequently reported. In general, patients diagnosed through newborn screening have shown normal growth and development in contrast to those diagnosed as a result of clinically initiated evaluations. Here, the case of an asymptomatic Korean newborn with SCADD identified by tandem mass spectrometry is reported. The patient showed an elevated concentration of butyrylcarnitine detected on newborn screening. Urinary excretion of ethylmalonic acid was elevated by urine organic acid analysis. To confirm the diagnosis of SCADD, a direct sequencing analysis of 10 coding exons and the exon-intron boundaries of the ACADS gene were performed. Genetic analysis of ACADS showed the following novel compound heterozygous missense mutations: c.277C>A (p.Leu93Ile) on exon3 and c.682G>A (p.Glu288Lys) on exon6. These results will provide further evidence of mutational heterogeneity for SCADD.

• Journal of Genetic Medicine
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• v.18 no.2
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• pp.110-116
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• 2021

Microdeletions of chromosome 22q11.2 are one of the most common microdeletions occurring in humans, and is known to be associated with a wide range of highly variable features. These deletions occur within a cluster of low copy repeats (LCRs) in 22q11.2, referred to as LCR22 A-H. DiGeorge (DGS)/velocardiofacial syndrome is the most prevalent form of a 22q11.2 deletions, caused by mainly proximal deletions between LCR22 A and D. As deletions of distal portion to the DGS deleted regions has been extensively studied, the recurrent distal 22q11.2 microdeletions distinct from DGS has been suggested as several clinical entities according to the various in size and position of the deletions on LCRs. We report a case of long-term follow-up of a female diagnosed with a 22q11.2 distal deletion syndrome, identified a deletion of 1.9 Mb at 22q11.21q11.23 (chr22: 21,798,906-23,653,963) using single nucleotide polymorphism array. This region was categorized as distal deletion type of 22q11.2, involving LCR22 D-F. She was born as a preterm, low birth weight to healthy non-consanguineous Korean parents. She showed developmental delay, growth retardation, dysmorphic facial features, and mild skeletal deformities. The patient underwent a growth hormone administration due to growth impairment without catch-up growth. While a height gain was noted, she had become overweight and was subsequently diagnosed with pre-diabetes. Our case could help broaden the genetic and clinical spectrum of 22q11.2 distal deletions.

• Journal of Genetic Medicine
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• v.19 no.2
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• pp.94-99
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• 2022

Lesch-Nyhan disease (LND) is a rare X-linked recessive inherited purine metabolic disorder that accompanies neurodevelopmental problems. Neurofibromatosis type 1 (NF1) is a relatively common autosomal dominant inherited genetic disorder characterized by tumors in various systems. Some children with NF1 also accompanies neurodevelopmental problems. Here, we describe a 5-year-old boy with a maternally inherited pathogenic variant in NF1 and hypoxanthine-guanine phosphoribosyltransferase (HPRT). He was referred for severe neurodevelopmental impairment and hyperuricemia. His mother was diagnosed with NF1 and the patient was also suspected of having NF1 because of cafe au lait macules. He had dystonia, rigidity, cognitive deficit, and speech/language impairment. Serum and urine uric acid concentrations were elevated. He had more severe neurodevelopmental delay than patients with only NF1, so his clinical symptoms could not be fully understood by the disease alone. To find the cause of his neurologic symptoms and hyperuricemia, the patient and his mother underwent a whole-exome sequencing test. As a result, the pathogenic variant c.151C>T (p.Arg51Ter) in HPRT1 was identified as hemizygote in the patient and heterozygote in his mother. The pathogenic variant c.7682C>G (p.Ser2561Ter) in NF-1 was identified as heterozygotes in both of them. Although the clinical symptoms of both diseases were overlapping and complicated, genetic testing was helpful for accurate diagnosis and treatment. Therefore, we suggest to consider preemptive genetic evaluation if there are symptoms not sufficiently explained by known existing diseases. And it is considered valuable to review this rare case to understand the clinical course and possible synergic effects of these diseases.

• The Journal of the Convergence on Culture Technology
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• v.9 no.6
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• pp.33-39
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• 2023

Although COVID-19 has transitioned to a level 4 infectious disease in 2023 and has entered a stable trend, in special education settings, the importance of supporting the academic and social development gaps of students with disabilities caused by non-face-to-face learning situations such as remote classes during the COVID-19 period is emerging. there is. Accordingly, in this study, in order to identify and support the educational status and academic deficits of students with disabilities after COVID-19, we conducted a survey targeting 2,214 special education teachers in 17 cities and analyzed the results. As a result of the study, due to COVID-19, the developmental delay and educational gap in students with disabilities in terms of academics, emotions, and behavior deepened, and there was a high demand for manpower support, psychological counseling, and medical support for emotional behavior as a way to support this. Based on the results of this study, follow-up results were proposed.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.16 no.2
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• pp.219-230
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• 2005

Objectives : This study was designed to compare the demographic data, clinical characteristics, developmental delay, and psychological tests between childhood-onset and adolescent-onset schizophrenic in-patients. Methods Medical records of the 17 childhood-onset (very early onset) Schizophrenia and 16 adolescent-onset (early onset) Schizophrenia in-patients were reviewed. Sex, age, psychiatric past history, prodromal symptoms and period, subtype, co-morbid disease, developmental delay, prescribed drug and dosage, treatment response, intelligence quotient (IQ), and Rorschach test were evaluated. Results : The mean admission age of childhood-onset (very early onset) group and adolescent-onset (early onset) group were 12.69$({\pm}2.34)$ and 15.13$({\pm}1.04)$ years. The mean onset age of childhood-onset(very early onset) group and adolescent-onset (early onset) group were 10.79$({\pm}1.95)$ and 14.46$({\pm}0.82)$ years. The mean prodromal period of childhood-onset (very early onset) group and adolescent-onset (early onset) group were 15.94$({\pm}12.33)$ and 8.06$({\pm}6.10)$ month. The time to remission period of childhood-onset (very early onset) group and adolescent-onset (early onset) group were 50.58$({\pm}24.67)$ and 30.06$({\pm}18.04)$ days. Longer time to remission period in childhood-osnet (very early onset) group was associated with earlier age of onset. The mean of total IQ, performance IQ, verbal IQ were at an average level. Discussion : Childhood-onset (very early onset) group and adolescent-onset (early onset) group Schizophrenia had different clinical and psychological features including prodromal period, and IQ subtests.

• Clinical and Experimental Pediatrics
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• v.49 no.10
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• pp.1050-1055
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• 2006

Purpose : As a result of advances in neonatal intensive care and perinatal care, neurodevelopmental outcomes of very low birth weight infant(VLBWIS) is expected to lead to improvement. The aim of this study was to report neurodevelopmental outcomes and risk factors of neurologic impairment of very low birth weight infants during the past 10 years. Method : We performed a retrospective study of 447 newborn infants below 1,500 gm admitted to neonatal intensive care unit of Taegu Fatima Hospital between Janury 1996 and December 2004. Infants were subdivided into group 1(Jan. 1996 to Dec. 1998), group 2(Jan. 1999 to Dec. 2001), and group3(Jan. 2002 to Dec. 2004). We analyzed epidemiologic data to study changes of neurodevelopmental outcomes and risk factors of neurologic impairment. Result : The incidence of cerebral palsy and developmental delay decreased significantly in periods 2 and 3(vs period 1; cerebral palsy 10 percent, developmental delay; 18 percent, P<0.05). Periventricular leukomalacia incidence decreased in period 3(vs period 1; 14.5 percent, P<0.05). The overall survival rate of VLBWIS increased significantly in period 2 and 3(vs period 1; 90.0 percent, P<0.05). The risk factors of neurologic impairment are long-term ventilator care(above 1 wk), low Apgar score, low gestational age and low birth weight. Conclusion : In the most recent 10 years, neurologic impairments of VLBWIS significantly decreased, as a result of advances in neonatal intensive care and perinatal care.

• Neonatal Medicine
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• v.17 no.2
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• pp.217-223
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• 2010

Purpose: To evaluate the validity of the Korean Ages and Stages Questionnaire (K-ASQ) in premature infants. Methods: Infants with a gestational age of less than 37 weeks were assessed with K-ASQ and Bayley Scales of Infant Development-III (BSID-III) at the outpatient clinic of Seoul National University Children's Hospital between October 30, 2006 and August 1, 2010. Less than 1 standard deviation of the ASQ was defined as positive, and the results were compared with those of BSID-III. Results: The mean gestational age of subjects in the study group was 28$\pm$2.87 weeks (median, 28.43 weeks; range, 23.57-35.86weeks), and the mean birth weight was 1,027$\pm$363 g (median, 950 g; range, 480-2,870 g). The sensitivity of K-ASQ at 8 month was 0.2, and the specificity was 0.93. The sensitivity of K-ASQ at 18 months was 0.72, and the specificity was 0.94. The validity of each of the 4 matched subunits was separately compared, and it also had a high specificity and a low sensitivity. In addition, KASQ showed a higher sensitivity at 18 months than at 8 months. Conclusion: ASQ was developed to screen the general population, and its specificity has been powered. The specificity was also proven in our study. The results of this study suggest that although screening use of K-ASQ in preterm infants may have some limitations, the specificities at 8 and 18 months can be clinically implicated. Further studies are needed to confirm our results.

• Clinical and Experimental Pediatrics
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• v.50 no.9
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• pp.868-874
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• 2007

Purpose : We performed this study to investigate the perinatal and developmental features of the patients with congenital myotonic dystrophy (CDM) confirmed by the molecular genetic method and the clinical characteristics of their mother, and to identify the relation between the number of CTG repeats and the clinical severity.Methods : A retrospective review of the medical records and the results of the dystrophia myotonica protein kinase (DMPK) gene test was done for the patients who were confirmed as CDM through gene analysis from January 2001 to September 2006. Results : All of the eight patients (male 2, female 6) showed moderate to severe degree of perinatal distress and feeding difficulty associated with profound hypotonia. Three patients had the history of polyhydramnios and two patients had equinovarus deformity. The developmental milestones were delayed in all patients, which improved gradually with age. All of their mothers demonstrated myotonic symptoms and typical myopathic face. The number of CTG repeats in DMPK gene analysis ranged 1,000-2,083, and there was no significant correlation between the number of CTG repeats and the time of walking alone. Conclusion : All patients with CDM presented with severe hypotonia in perinatal period, and developmental delay thereafter, which were improved with age. All of their mothers manifested myotonic symptoms with typical myopathic face, and the identification of such features greatly contributed to the diagnosis of the patients. The number of CTG repeats had no significant influence on the motor development.