• Clinical and Experimental Pediatrics
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• v.55 no.8
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• pp.272-279
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• 2012

Purpose: The aim of this study was to develop an appropriate nursing information guideline according to corrected age, after investigating parents' concerns about the growth, development, and diseases of their premature infants after discharge from the neonatal intensive care unit (NICU). Methods: The parents of premature infants (birth weight, <2,500 g; gestational age, <37 weeks) who went to a neonatal follow-up clinic after NICU discharge at Seoul St. Mary's Hospital from January 2005 to December 2009, were asked with regard to their concerns about their infants through a questionnaire survey. The results of physical examinations, including body measurements and neurodevelopmental status at 4, 8, 12, and 18 months of corrected age, were retrospectively reviewed in 390 infants. Results: The most common parental concerns were developmental delay, poor growth, and feeding and nutritional problems. Parental concerns about developmental delay, growth failure in improvement in body weight and length, and overweightness were high in specificity but very low in sensitivity. After NICU discharge, 30% of premature infants experienced infectious diseases before 18 months of corrected age, the most common of which was respiratory tract infection. Conclusion: For guiding of premature infants in outpatient day clinics after NICU discharge, it is necessary to identify the parents' highest concerns, to educate them about the possibilities of growth and neurodevelopmental disabilities in their infants and to provide them with handouts containing guidelines on the management of infectious diseases, especially respiratory infections.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.5 no.1
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• pp.102-107
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• 1994

Recently several studies showed a strong and specific association of Attention-Deficit Hyperactivity Disorder(ADHD) and generalized resistance to thyroid hormone(GRTH). The recommandation that all children with ADHD be screened for GRTH is an newer controversial issue in child psychiatric field. Author examined thyroid indices(T3, T4, TSH) and clinical characteristics in the 51 clinical populations with ADHD, developmental delay, and language disorders. The results are that 11 cases were out of the normal range of both T2 and T4 inspite of normal TSH. This finding is suggestive of the finding of GRTH cases. Therefore I suggest that child psychiatrist should pay attention to ADHD symptoms secondary to GRTH and that all children with familial ADHD and developmental delay(including launguage disorder) be screened for thyroid abnormalities.

• Journal of Genetic Medicine
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• v.17 no.1
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• pp.43-46
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• 2020

The Shprintzen-Goldberg syndrome (SGS) is an extremely rare genetic disorder caused by heterozygous variant in SKI. SGS is characterized by neurodevelopmental impairment with skeletal anomaly. Recognition of SGS is sometimes quite challenging in practice because it has diverse clinical features involving skeletal, neurological, and cardiovascular system. Here we report a case of a 6-month-old boy who initially presented with developmental delay and marfanoid facial features including prominent forehead, hypertelorism, high arched palate and retrognathia. He showed motor developmental delay since birth and could not control his head at the time of first evaluation. His height was above 2 standard deviation score. Arachnodactyly, hypermobility of joints, skin laxity, and pectus excavatum were also noted. Sequencing for FBN1 was negative, however, a novel missense variant, c.350G>A in SKI was identified by sequential whole exome sequencing. To our knowledge, this is the first case with SGS with phenotypic features of SGS overlapping with those of the Marfan syndrome, diagnosed by next generation sequencing in Korea.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.13 no.2
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• pp.104-110
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• 2013

Purpose: Phenylketonuria (PKU) is the first inherited metabolic disease of which treatment is known. We performed this study to find out clinical symptoms and prognosis of tetrahydrobiopterin (BH4) responsive PKU patients and genetic relation. Methods: Clinical, biochemical, genetic analysis were done retrospectively in 23 patients diagnosed BH4 responsive PKU in Soonchunhyang University Hospital from March 2000 to September 2012. Results: Patients were classified to mild hyperphenylalaninemia and mild phenylketonuria with initial plasma phenylalanine level below 20 mg/dL. After BH4 loading, blood phenylalanine decrease level ranged between 37% and 99%. Initial treatment with low phenylalanine formula or BH4 was started before 2 month after birth except 2 patients. And one of them resulted in developmental delay in language and social activity. The others showed satisfactory progress without developmental delay. In genetic analysis, of 46 allele, R241C allele mutation was identified most commonly (41%). R241C/A259T, R241C/R243Q, R241C/V388M, R241C/T278I was detected in 5 (21.7%), 3 (13%), 2 (8%), 2 (8%) patients, respectively. Conclusion: R241C mutation was detected most frequently in this study group and R243Q mutation which is known to be prevalent in Korean PKU patients was found in 4 patients (8.6%). Early diagnosis and treatment is important in PKU patients.

• Korean Journal of Ecology and Environment
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• v.41 no.1
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• pp.81-89
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• 2008

The eco-toxicological effects of endocrine disrupter, 4-nonylphenol (4NP) were observed and detected on the harpacticoid copepod, Tigriopus japonicus s.l. obtained and cultur-ed from our coast. There were no significant differences survival rate, sex ratio, and fecundity on T. japonicus s.l. at as low as $30{\mu}gL^{-1}$ of 4 NP exposure. Whereas, 4NP induced developmental delay, decreasing biomass and body size of nauplius and copepodite. Also, Differentially Expressed Gene (DEG) was conducted to detecting gene expression for potential biomarkers response to 4NP. As a result, full lifecycle research on morphology and gene expression of T. japonicus s.l. suggested potential bioindicators or biomarkers for environmental monitoring and assessments.

• Journal of Genetic Medicine
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• v.21 no.1
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• pp.31-35
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• 2024

Allan-Herndon-Dudley syndrome (AHDS) is a rare X-linked neurodevelopmental disorder with abnormal thyroid function caused by mutation in the solute carrier family 16 member 2 (SLC16A2) gene. Clinical manifestations of AHDS are global or axial hypotonia, a variety of movement disorders, severe intellectual disability, quadriplegia or spastic diplegia, growth failure, and seizures. A 10-year-old boy visited our hospital with the chief complaint of newly onset generalized tonic seizures with vocalization of weekly to daily frequency. He showed early infantile hypotonia, severe intellectual disability, and frequent respiratory infections. He could not walk independently and was non-verbal. Electroencephalogram revealed generalized slow spike and waves with multifocal spikes and slow background rhythms. His tonic seizures were controlled with more than two anti-seizure medications (ASMs). At 11 years of age, he was evaluated for thyroid function as part of regular screening for ASM maintenance and was found to have abnormal thyroid function. We performed whole exome sequencing for severe global developmental delay, drug-resistant epilepsy, and abnormal thyroid function. The hemizygous c.940C>T (p.Arg314Ter) variant in the SLC16A2 gene (NM_006517.5) was identified and confirmed based on Sanger sequencing. Herein, we describe a case of an AHDS patient with late-onset drug-resistant epilepsy combined with congenital hypotonia, global developmental delay, and abnormal thyroid function results. To the best of our knowledge, this is the oldest adolescent among AHDS cases reported in Korea. In this report, clinical characteristics of a mid-adolescence patient with AHDS were presented.

• Korean journal of psychology:General
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• v.36 no.1
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• pp.81-107
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• 2017

The study aims to investigate the clinical utility of Bayley-III using US norm in Korea. A total of 98 preterm infants and 93 term infants were assessed with the K-Bayley-III. The performance pattern of preterm infants was analyzed with mixed design ANOVA which examined the differences of scaled scores and composite scores of Bayley-III between full term- and preterm- infant group and within preterm infants group. Then, We have investigated agreement between classifications of delay made using the BSID-II and Bayley-III. In addition, ROC plots were constructed to identify a Bayley-III cut-off score with optimum diagnostic utility in this sample. The results were as follows. (1) Preterm infants have significantly lower function levels in areas of 5 scaled scores and 3 developmental indexes compared with infants born at term. Significant differences among scores within preterm infant group were also found. (2) Bayley-III had the higher scores of the Mental Development Index and Psychomotor Developmental Index comparing to the scores of K-BSID-II, and had the lower rates of developmental delay. (3) All scales of Bayley-III, Cognitive, Language and Motor scale had the appropriate level of discrimination, but the cut-off composite scores of Bayley-III were adjusted 13~28 points higher than 69 for prediction of delay, as defined by the K-BSID-II. It explains the lower rates of developmental delay using the standard of two standard deviation. This study has provided empirical data to inform that we must careful when interpreting the score for clinical applications, identified the discriminating power, and proposed more appropriate cut-off scores. In addition, discussion about the sampling for making the Korean norm of Bayley-III was provided. It is preferable that infants in Korea should use our own validated norms. The standardization process to get Korean normative data must be performed carefully.

• Research in Community and Public Health Nursing
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• v.13 no.1
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• pp.89-97
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• 2002

Purpose: The purpose of this study is to explore the validity of the application of the Denver II developmental screening test to Korean children. This screening test. which was developed and standardized in United States. was designed to screen for developmental delay in Korea. and to compare the levels of development of Korean children with the development of children from the U.S. Method: Quota sampling. NP To facilitate field sampling. the age range used from 0 to 6 years old. was split into 10 different age groups. Sample size was estimated according to residence. 1.054 children were recruited from Seoul's metropolitan. urban and rural areas. NP To fill the quota established. the Recruitment and testing of children was done at public health centers, pediatric outpatient clinics of general hospitals and a child care center. The 25, 50, 75 and 90 percentiles were identified by using logistic regression analysis and were calculated as norms. The items in which the ages of both 50 and 90 percent passing differed more than 20 percent by the calculation was identified for comparison. NP Result: There were significant differences found in 45 items between Korean children and the children from the City of Denver as it relates to age differences. 90% of the sample passed items among 125 items from 4 sectors, e.g., personal- social. fine motor adaptive, language, and gross motor sectors. Korean children were found to be advanced in 9 items, whereas there were significant differences found in 38 items in our comparison of the two countries for age differences when 50% of sample pass items. Korean children were found to be advanced in 16 items. NP Conclusion: The result showed that there was a discrepancy in the developmental norms. It could be explained by the differences in the developmental environment. including child rearing patterns and ethnicity. Therefore, a restandardization of the Denver Screening Test is necessary as it relates to its application on Korean children. This restandardization is necessary in order to avoid both under and over-referrals of children with developmental abnormality. The modification of items in the language sector is especially suggested.

• Journal of the Korea Academia-Industrial cooperation Society
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• v.19 no.8
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• pp.283-294
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• 2018

The purpose of this study is to understand and describe in depth the meaning of parenting experiences of mothers with children with developmental disabilities through phenomenological methods. Participants of this study were selected by convenience sampling 11 mothers who were taking care of children with developmental disabilities who were being treated at the Welfare Center for the Disabled in C city. Data were collected from February to April, 2018 by using in-depth interview and tape-recording. The interview data were analyzed by the phenomenological analysis method of Giorgi. As the result of analysis, the following seven constituents were emerged; Regreting to delay the uncertain diagnosis, Difficulty in accommodating children with disabilities, Unbearable gaze around, Family disagreements due to children with disabilities, Adopting and dedicated to child care for disabled childre, Tiring of raising children with disabilities, Accepting children with disabilities. In conclusion, the parenting attitude of mother with developmental disability is influenced not only by the children with developmental disabilities but also by the social contact opportunities of daily life and interpersonal relationship including mothers' emotional stability and social isolation, It is considered that medical and welfare should be systematically introduced for physical, psychological and emotional support for mothers.

• Biomolecules & Therapeutics
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• v.6 no.1
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• pp.82-88
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• 1998

LBO0014, a new recombinant human erythropoietin, was at dose levels of 0, 120, 600, and 3,000 IU/kg/day administered intravenously to pregnant Sprague-Dawley rats during the organogenetic period. All dams were subjected to caesarean section on day 20 of pregnancy, Effects of test substance on dams and embryonic development of Fl fetuses were examined. No treatment-related changes in clinical signs, body weight, and food consumption were observed at all doses tested. At necropsy spleen enlargement was found at 3,000 lU/kg. There was an ulcrease in the spleen weight at 600 and 3,0007/kg. Developmental toxicity was evident as increased resorptions at 3,000 lU/kg. At 600 and 3,000 RJ/kg, retarded ossification of fetuses occurred at an incidence of 31.3% and 64.7%, respectively. In addition, there was a delay in ossification of sternebrae and sacrocaudal vertebrae at 600 and 3,000 lU/kg. A decrease in the number of metacarpi and metatarsi was also seen at 3,000 nJ/kg. The results show that the no observed adverse effect dose level (NOAEL) for material toxicity was over 3,000 IU/kg/day and the NOAEL for developmental toxicity was 120 IU/kg/day.