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Review Article
Neurology
Worldwide national intervention of developmental screening programs in infant and early childhood
Seunghyo Kim
Clin Exp Pediatr. 2022;65(1):10-20.   Published online September 30, 2021
∙ Prevalence rate of developmental disabilities has been reported from 8% to 15% and its rate is increasing worldwide.
∙ The critical period of intervention for developmental delay is before the child reaches 3 years of age.
∙ All primary care pediatricians should conduct developmental surveillance and screening tests to infants and children at scheduled visits. Through this, they are liable for providing early identification and timely intervention.
Immunology
Modern diagnostic capabilities of neonatal screening for primary immunodeficiencies in newborns
Evgenia Olegovna Khalturina, Natalia Dmitrievna Degtyareva, Anastasiia Vasi’evna Bairashevskaia, Alena Valerievna Mulenkova, Anna Vladimirovna Degtyareva
Clin Exp Pediatr. 2021;64(10):504-510.   Published online March 25, 2021
· Neonatal screening for primary immunodeficiency diseases (PIDs) enables early diagnosis and subsequent initiation of therapy.
· Excision of T-cell receptors and kappa-recombination excision circles are cheaper alternative PID screening methods.
· Sanger DNA sequencing remains the reference method for detecting PID; however, next-generation sequencing technology is increasingly used to diagnose it.
· Here we developed a graphical algorithm for diagnosing primary immunodeficiency syndrome based on modern methods of screening for primary immunodeficiencies in newborns.
Original Article
Allergy
Cohort profile: National Investigation of Birth Cohort in Korea study 2008 (NICKs-2008)
Ju Hee Kim, Jung Eun Lee, So Min Shim, Eun Kyo Ha, Dong Keon Yon, Ok Hyang Kim, Ji Hyeon Baek, Hyun Yong Koh, Kyu Young Chae, Seung Won Lee, Man Yong Han
Clin Exp Pediatr. 2021;64(9):480-488.   Published online January 5, 2021
This national cohort study included all Korean children born in 2008 and 2009 observed over a period of more than 10 years. Our findings demonstrate that it is possible to analyze disease onset prior to hospitalization based on information such as lifestyle, eating habits, and risk factors by integrating National Health Insurance System data with national health screening data.
Developmental and Behavioral Medicine
Development of the Korean Developmental Screening Test for Infants and Children (K-DST)
Hee Jung Chung, Donghwa Yang, Gun-Ha Kim, Sung Koo Kim, Seoung Woo Kim, Young Key Kim, Young Ah Kim, Joon Sik Kim, Jin Kyung Kim, Cheongtag Kim, In-Kyung Sung, Son Moon Shin, Kyung Ja Oh, Hee-Jeong Yoo, Hee Joon Yu, Seoung-Joon Lim, Jeehun Lee, Hae-Ik Jeong, Jieun Choi, Jeong-Yi Kwon, Baik-Lin Eun
Clin Exp Pediatr. 2020;63(11):438-446.   Published online May 14, 2020
Question: Can the Korean Developmental Screening Test for Infants and Children (K-DST) be a useful screening tool for infants and children in Korea?
Finding: The K-DST has high reliability (internal consistency of 0.73–0.93, test-retest reliability of 0.77–0.88) and a high discriminatory ability with a sensitivity of 0.833 and specificity of 0.979.
Meaning: The K-DST is an effective and reliable screening tool for infants and children with neurodevelopmental disorders in Korea.
Neonatology (Perinatology)
Risk-based maternal group B Streptococcus screening strategy is compatible with the implementation of neonatal early-onset sepsis calculator
Niek B. Achten, J. Wendelien Dorigo-Zetsma, Annemarie M.C. van Rossum, Rianne Oostenbrink, Frans B. Plötz
Clin Exp Pediatr. 2020;63(10):406-410.   Published online April 16, 2020
Question: To what extent does risk-based Group B Streptococcus (GBS) screening influence management recommendations by the early-onset sepsis (EOS) calculator?
Finding: In 97% of the newborn infants, the EOS calculator recommendation remained unchanged after the GBS status at birth was updated to the definitive GBS status.
Meaning: Risk-based GBS screening results are compatible with EOS calculator recommendations.
Systematic review and meta-analysis
Genetics and Metabolism
Global prevalence of classic phenylketonuria based on Neonatal Screening Program Data: systematic review and meta-analysis
Hamid Reza Shoraka, Ali Akbar Haghdoost, Mohammad Reza Baneshi, Zohre Bagherinezhad, Farzaneh Zolala
Clin Exp Pediatr. 2020;63(2):34-43.   Published online February 6, 2020
Question: What is the global prevalence of classic phenylketonuria based on Neonatal Screening Program Data?
Finding: The overall worldwide prevalence of the disease is 6.002 per 100,000 neonates. The highest prevalence (38.13) was reported in Turkey, while the lowest (0.3) in Thailand.
Meaning: This difference in the prevalence may be due to differences in the number of consanguineous marriages among the different regions, phenylalanine cutoff points, and sample sizes.
Original Article
Developmental and Behavioral Medicine
Validity of the Korean Developmental Screening Test for very-low-birth-weight infants
Chae Young Kim, Euiseok Jung, Byong Sop Lee, Ki-Soo Kim, Ellen Ai-Rhan Kim
Clin Exp Pediatr. 2019;62(5):187-192.   Published online March 20, 2019

Purpose: The importance of the neurodevelopmental outcomes of very-low-birth-weight (VLBW) infants has been emphasized as their mortality rate has markedly improved. This study aimed to assess the validity of the Korean Developmental Screening Test (K-DST), a developmental screening tool approved by the Korean Society of Pediatrics, for the timely diagnosis of neurodevelopmental delay in VLBW infants. Methods: Subjects included VLBW infants...
Neonatology (Perinatology)
Hearing loss screening tool (COBRA score) for newborns in primary care setting
Watcharapol Poonual, Niramon Navacharoen, Jaran Kangsanarak, Sirianong Namwongprom, Surasak Saokaew
Clin Exp Pediatr. 2017;60(11):353-358.   Published online November 27, 2017
Purpose

To develop and evaluate a simple screening tool to assess hearing loss in newborns. A derived score was compared with the standard clinical practice tool.

Methods

This cohort study was designed to screen the hearing of newborns using transiently evoked otoacoustic emission and auditory brain stem response, and to determine the risk factors associated with hearing loss of newborns in 3 tertiary...

Developmental and Behavioral Medicine
Usefulness of the Korean Developmental Screening Test for infants and children for the evaluation of developmental delay in Korean infants and children: a single-center study
Chung-Hyuk Yim, Gun-Ha Kim, Baik-Lin Eun
Clin Exp Pediatr. 2017;60(10):312-319.   Published online October 20, 2017
Purpose

To evaluate the usefulness of the Korean Developmental Screening Test (K-DST) for infants and children for developmental delay assessment.

Methods

This study was based on retrospective studies of the results of the K-DST, Preschool Receptive-Expressive Language Scale (PRES), Sequenced Language Scale for Infants (SELSI), Childhood Autism Rating Scale (CARS), Modified Checklist for Autism in Toddlers (M-CHAT), electroencephalography, magnetic resonance imaging, and extensive...

Neurology
Single-center experience of the Korean-Developmental Screening Test for infants and children
Chae-Ri Suh, Su Ye Sohn, Gun-Ha Kim, Seong-Kwan Jung, Baik-Lin Eun
Clin Exp Pediatr. 2016;59(12):483-489.   Published online December 31, 2016
Purpose

We investigated the number of test takers of the Korean-Developmental Screening Test (K-DST) in a single children's hospital within a year, according to age, referral rate, and follow-up percentage.

Methods

For this study, 4,062 children who visited and received K-DST at Woorisoa Children's Hospital between January and December 2015 were enrolled. Seven test sets were used according to the Korean National Health...

Case Report
Genetics and Metabolism
Compound heterozygous mutations of ACADS gene in newborn with short chain acyl-CoA dehydrogenase deficiency: case report and literatures review
Se Jin An, Sook Za Kim, Gu Hwan Kim, Han Wook Yoo, Han Hyuk Lim
Clin Exp Pediatr. 2016;59(Suppl 1):S45-S48.   Published online November 30, 2016

Short-chain acyl-CoA dehydrogenase deficiency (SCADD) is a rare autosomal recessive mitochondrial disorder of fatty acid β-oxidation, and is associated with mutations in the acyl-CoA dehydrogenase (ACADS) gene. Recent advances in spectrometric screening for inborn errors of metabolism have helped detect several metabolic disorders, including SCADD, without symptoms in the neonate period. This allows immediate initiation of treatment and monitoring, so...

Original Article
Thyroid dysfunction in very low birth weight preterm infants
Ji Hoon Lee, Sung Woo Kim, Ga Won Jeon, Jong Beom Sin
Clin Exp Pediatr. 2015;58(6):224-229.   Published online June 22, 2015
Purpose

Thyroid dysfunction is common in preterm infants. Congenital hypothyroidism causes neurodevelopmental impairment, which is preventable if properly treated. This study was conducted to describe the characteristics of thyroid dysfunction in very low birth weight infants (VLBWIs), evaluate risk factors of hypothyroidism, and suggest the reassessment of thyroid function with an initially normal thyroid-stimulating hormone (TSH) as part of a newborn...

Case Report
Asymptomatic maternal 3-methylcrotonylglycinuria detected by her unaffected baby's neonatal screening test
Sun Hee Lee, Yong Hee Hong
Clin Exp Pediatr. 2014;57(7):329-332.   Published online July 23, 2014

3-methylcrotonyl-coenzyme A carboxylase (3MCC) deficiency is an autosomal recessive disorder in which leucine catabolism is hampered, leading to increased urinary excretion of 3-methylcrotonylglycine. In addition, 3-hydroxyisovalerylcarnitine levels increase in the blood, and the elevated levels form the basis of neonatal screening. 3MCC deficiency symptoms are variable, ranging from neonatal onset with severe neurological abnormality to a normal, asymptomatic phenotype. Although...

Original Article
Spectrum of patients with hypermethioninemia based on neonatal screening tests over 14 years
Se Jung Oh, Yong Hee Hong, Yong Wha Lee, Dong Hwan Lee
Clin Exp Pediatr. 2010;53(3):329-334.   Published online March 15, 2010
Purpose : The neonatal screening test for homocystinuria primarily measures methionine by using a dried blood specimen. We investigated the incidence and clinical manifestations of homocystinuria, isolated hypermethioninemia, and transient hypermethioninemia among patients with hypermethioninemia on a neonatal screening test. Methods : We performed a retrospective study of 58 patients transferred to Shoonchunhyang Hospital because of hypermethioninemia on a neonatal...
One-year evaluation of the national health screening program for infants and children in Korea
Jin Soo Moon, Soon Young Lee, Baik-Lin Eun, Young Key Kim, Young Key Kim, Son Moon Shin, Hea Kyoung Lee, Hee Jung Chung
Clin Exp Pediatr. 2010;53(3):307-313.   Published online March 15, 2010

Purpose:Results of the Korea National Health Screening Program for Infants and Children, which was launched in November 2007, were evaluated for future research and policy development. Methods:Data from a total of 2,729,340 cases were analyzed. Five visiting ages, such as 4, 9, 18, 30, and 60 months, were included. Several parameters such as stunting, obesity, and positive rate of developmental...
The current child and adolescent health screening system: an assessment and proposal for an early and periodic check-up program
Baik-Lin Eun, Jin Soo Moon, So-Hee Eun, Hea Kyoung Lee, Son Moon Shin, In Kyung Sung, Hee Jung Chung
Clin Exp Pediatr. 2010;53(3):300-306.   Published online March 15, 2010
Purpose : Recent changes in the population structure of Korea, such as rapid decline in birth rate and exponential increase in old-aged people, prompted us to prepare a new health improvement program in children and adolescents. Methods : We reviewed current health screenings applied for children and adolescents in Korea and other developed countries. We collected and reviewed population-based data...
Thyroid dysfunction in premature infants
Ki Bae Hong, Ji Yun Park, Young Pyo Chang, Jeesuk Yu
Clin Exp Pediatr. 2009;52(9):991-998.   Published online September 15, 2009

Purpose:Thyroid hormone is essential for development of the brain in early life. Thyroid dysfunction is more common in the first 2-4 postnatal weeks of life in premature infants than in term infants. This study aimed to identify the prevalence and clinical course of thyroid dysfunction in prematurity. Methods:Premature infants admitted to and given neonatal screenings at Dankook University Hospital between...
Review Article
Assessment of retinopathy of prematurity (ROP) revisited
Jeong Hun Kim, Young Suk Yu
Clin Exp Pediatr. 2009;52(1):22-27.   Published online January 15, 2009
Retinopathy of prematurity (ROP) is a major cause of blindness that affects premature infants. With advances in neonatology, ROP is likely to emerge as the most serious problem of vision loss in children even in developed countries; such a situation could be called the third epidemic of ROP. However, controversy and uncertainty still surround favorable outcomes of ROP. For successfully...
Original Article
Interpretation of screening for congenital adrenal hyperplasia in preterm infants
Hye Rim Chung, Choong Ho Shin, Sei Won Yang, Kyong Ah Yun, Young Ah Lee, So Eun Park, Chang Won Choi, Byung Il Kim, Jung Hwan Choi, Junghan Song
Clin Exp Pediatr. 2008;51(6):616-621.   Published online June 15, 2008
Purpose : This study was undertaken to identify factors that influence 17-OHP levels in preterm infants and to suggest a reasonable follow-up schedule of screening for congenital adrenal hyperplasia (CAH) in preterm infants. Methods : The 17-OHP concentrations in filter paper blood spots of 427 preterm infants were obtained. The effects of gestational age (GA), systemic diseases, and antenatal dexamethasone...
Review Article
The prevalence of pediatric endocrine and metabolic diseases in Korea
Dong Hwan Lee
Clin Exp Pediatr. 2008;51(6):559-563.   Published online June 15, 2008
The government neonatal screening program has a 17-years history. Therefore, it can now provide information on the prevalence of endocrine and metabolic diseases which included in neonatal screening. Knowledge of the prevalence of metabolic diseases is very important with these results, the most effective screening methods can be determined and diseases can be identified that should be added to neonatal...
Original Article
The impact of early detection through school urinary screening tests of membranoproliferative glomerulonephritis typeⅠ
Sung-Hoon Chung, Sung-Sin Park, Sung-Do Kim, Byoung-Soo Cho
Clin Exp Pediatr. 2007;50(11):1104-1109.   Published online November 15, 2007
Purpose : Since 1998, school urinary screening tests have been performed on Korean school children. We could detect and treat so many asymptomatic chronic renal disease in early stage. We investigated the efficacy of school urinary screening tests from children with membranoproliferative glomerulonephritis (MPGN) type I. Methods : We analyzed the characteristics and prognosis of 18 patients with MPGN type I...
Review Article
Newborn hearing screening
Lee Suk Kim
Clin Exp Pediatr. 2007;50(1):7-13.   Published online January 15, 2007
Hearing loss in newborns is the most frequently occurring birth defect. If hearing impaired children are not identified and managed early, it is difficult for many of them to acquire the fundamental language, social and cognitive skills that provide the foundation for later schooling and success in society. All newborns, both high and low risk, should be screened for hearing...
Newborn screening of inherited metabolic disease in Korea
Dong Hwan Lee
Clin Exp Pediatr. 2006;49(11):1125-1139.   Published online November 15, 2006
In 1991, the Ministry of Health & Social affairs adopted a nationwide service program for neonatal screening of phenylketonuria, galactosemia, maple syrup urine disease, homocystinuria, histidinemia & congenital hypothyroidism for newborns delivered from low class pregnant women registered in health centers. Government decreased the test items from six to two, PKU & congenital hypothyroidism to increase test numbers with same...
Original Article
Analysis of newborn hearing screening using automated auditory brainstem response
Sung Won Park, Byung Ho Yun, Kyung Ah Kim, Sun Young Ko, Yeon Kyung Lee, Son Moon Shin, Sung Hwa Hong
Clin Exp Pediatr. 2006;49(10):1056-1060.   Published online October 15, 2006
Purpose : As hearing ability affects language and cognitive development, early detection and intervention of congenital hearing defects is very important. We analyzed the result of newborn hearing screening using automated auditory brainstem response and estimated the incidence of congenital hearing defects in newborn infants in Korea. Methods : Hearing screening tests were done on 7,218 newborn infants who were...
Neonatal hearing screening in a neonatal intensive care unit using distortion product otoacoustic emissions
Do Young Kim, Sung Shin Kim, Chang Hwi Kim, Shi Chan Kim
Clin Exp Pediatr. 2006;49(5):507-512.   Published online May 15, 2006
Purpose : Early detection and intervention of hearing impairment is believed to improve speech and language development and behavior of children. The aim of this preliminary study was to determine the prevalence of hearing impairments, and to identify the association of risk factors relating to refer response in high risk neonates who were screened using distortion product otoacoustic emissions (DPOAE). Methods...
Follow-up of children with isolated microscopic hematuria detected in a mass school urine screening test
Mi-sun Yum, Hoe Soo Yoon, Joo Hoon Lee, Hyewon Hahn, Young Seo Park
Clin Exp Pediatr. 2006;49(1):82-86.   Published online January 15, 2006
Purpose : The isolated microscopic hematuria is the most common abnormality detected by school urinary screening, but there is no consensus about the range of investigations and long-term outcomes of isolated hematuria in children yet. This study aims to elucidate the prognosis of hematuria and the range of diagnostic studies by follow-up results. Methods : Students with isolated hematuria who were...
Usefulness of Korean Infant Developmental Screening Test in Premature Infants
Dong Han Shin, Hee Sun Lee, Jee Yeon Lee, Byung Min Choi, Baik-Lin Eun, Young Sook Hong, Joo Won Lee
Clin Exp Pediatr. 2005;48(12):1337-1341.   Published online December 15, 2005
Purpose : This study aimed to evaluate the usefulness of Korean Infant Development Screening Test in predicting delayed development in premature infants. Methods : A total of 74 children with histories of prematurity, who visited the pediatric neurology clinic of Korean University Ansan Hospital from August, 2002 to July, 2004, were examined, using the Korean Infant Development Screening Test. They were...
Investigation of Automated Neonatal Hearing Screening for Early Detection of Childhood Hearing Impairment
Jeong Il Seo, Si Uk Yoo, Sung Hyeon Gong, Kwang Su Hwang, Hyeon Jung Lee, Joong Pyo Kim, Hyeon Choi, Bo Young Lee, Ji Sun Mok
Clin Exp Pediatr. 2005;48(7):706-710.   Published online July 15, 2005
Purpose : Early diagnosis of congenital hearing loss through the neonatal hearing screening test minimizes language defect. This research intends to identify frequency of congenital hearing loss in infants through neonatal hearing screening test with the aim of communicating the importance of hearing test for infants. Methods : From May 20, 2003 to May 19, 2004, infants were subjected to Automated...
Reevaluation of the Neonatal Screening Test for Congenital Hypothyroidism
So Young Kang, Young Pyo Chang, Jeesuk Yu
Clin Exp Pediatr. 2005;48(4):387-394.   Published online April 15, 2005
Purpose : We performed this study to compare the TSH and free T4 levels according to gestational age and birth weight, and to reevaluate the cut-off values in the neonatal screening test for congenital hypothyroidism. Methods : Total 2,133 neonates(1,749 healthy newborns and 384 sick neonates) were screened in Dankook University Hospital from May 2000 to January 2003. Neonates with abnormal...
A Cost-benefit Analysis on Neonatal Screening of Phenylketonuria and Congenital Hypothyroidism in Korea
Hoe Cheol Yoon, Nyeon Cheon Kim, Dong Hwan Lee
Clin Exp Pediatr. 2005;48(4):369-375.   Published online April 15, 2005
Purpose : Many inborn errors of metabolism can be completely cured with early detection and early treatment. This is why neonatal screening on inborn errors of metabolism is implemented worldwide. In this study, a cost-benefit analysis was performed on the neonatal screening of phenylketonuria and congenital hypothyroidism in Korea. Methods : This study included 2,908,231 neonates who took the neonatal screening...
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