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Review Article
Association of prenatal and postnatal exposure to some endocrine-disrupting chemicals with birth and neurodevelopmental outcomes: an extensive review
Ozge Yesildemir, Mensure Nur Celik
Endocrine-disrupting chemicals (EDCs) are natural or human-made chemicals that can mimic, block, or interfere with the body's hormones. The most common and well-studied EDCs are bisphenol A, phthalate, and persistent organic pollutants, including polychlorinated biphenyls, polybrominated diphenyl ethers, per- and polyfluoroalkyl substances, other brominated flame retardants, organochlorine pesticides, dioxins, and furans. Humans are constantly exposed to EDCs through air, diet,...
Development of orphan drugs for rare disease
Han-Wook Yoo
Most rare diseases(orphan diseases) still lack approved treatments despite major advances in research providing the tools to understand their molecular basis, as well as legislation providing regulatory and economic incentives to expedite the development of specific therapies. Addressing this translational gap is a multifaceted challenge, for which a key aspect is the selection of the optimal therapeutic modality for translating...
Other
Acetaminophen causes neurodevelopmental injury in susceptible babies and children: no valid rationale for controversy
Lisa Zhao, John P. Jones, Lauren G. Anderson, Zacharoula Konsoula, Cynthia D. Nevison, Kathryn J. Reissner, William Parker
Clin Exp Pediatr. 2024;67(3):126-139.   Published online June 14, 2023
Despite worldwide acceptance of acetaminophen (paracetamol) in pediatric medicine, careful examination reveals no valid objections to the conclusion that early exposure to acetaminophen causes neurodevelopmental injury in susceptible babies and children. Nevertheless, debate that early exposure to acetaminophen causes neurodevelopmental injury has centered around the prenatal period, evidence of which is relatively limited compared to that in the postnatal period, which is the time of greatest absolute and relative risk.
Developmental and Behavioral Medicine
Spontaneous movements as prognostic tool of neurodevelopmental outcomes in preterm infants: a narrative review
Hyun Iee Shin, Myung Woo Park, Woo Hyung Lee
Clin Exp Pediatr. 2023;66(11):458-464.   Published online May 16, 2023
· Spontaneous movements can be useful to evaluate neuronal integrity in preterm infants.
· In General Movements Assessment, continuous cramped synchronized movements and absent fidgety movements can indicate high-risk infants for cerebral palsy.
· Recent advances in machine learning techniques have led to the automated prediction of cerebral palsy based on infantile spontaneous movements.
Other
Hearing loss in neonates and infants
Goun Choe, Su-Kyoung Park, Bong Jik Kim
Clin Exp Pediatr. 2023;66(9):369-376.   Published online January 9, 2023
· Congenital hearing loss is common, with an approximate incidence of 1.5 per 1,000 newborns and affecting 1.2%–11% of preterm and 1.6%–13.7% of neonatal intensive care unit neonates.
· Etiologies vary, and up to 80% of cases are genetic.
· Newborn hearing screenings follow the 1-3-6 rule, and babies at high risk of hearing loss should be referred to otolaryngology for early detection and timely intervention.
General Pediatrics
Korean Developmental Screening Test for Infants and Children (K-DST): development, applications, and implications for future early childhood development interventions
Dooyoung Kim, Young June Choe, Bilal Aurang Zeb Durrani, EunYoung Kim, Junghye Byeon, Baik-Lin Eun
Clin Exp Pediatr. 2023;66(7):288-293.   Published online December 22, 2022
· This review discusses the development and application of the Korean Developmental Screening Test for Infants and Children (K-DST) for ensuring early childhood development.
· Various studies have demonstrated the integral role of the K-DST in facilitating the detection of developmental delays and delivery of timely interventions.
· The tailoring of the K-DST to Korean infants and children suggests that other countries may further translate and adapt it.
Neurology
Gut microbiota affects brain development and behavior
Gun-Ha Kim, Jung-Ok Shim
Clin Exp Pediatr. 2023;66(7):274-280.   Published online November 8, 2022
· The gut microbiota can alter a host’s brain development and behavior.
· Gut bacteria communicate with the brain via the microbiota-gut-brain axis.
· Fecal microbial transplantation is a promising treatment strategy for autism spectrum disorder.
Original Article
Neurology
Neurodevelopmental outcomes and comorbidities of children with congenital muscular torticollis: evaluation using the National Health Screening Program for Infants and Children database
Og Hyang Kim, Seung Won Lee, Eun Kyo Ha, Ju Hee Kim, Yun Hye Jo, Seongyeong Rhie, Man Yong Han, Kyu Young Chae
Clin Exp Pediatr. 2022;65(6):312-319.   Published online December 9, 2021
Question: What comorbidities are increased in children with congenital muscular torticollis (CMT)? Are there differences in the neurodevelopmental outcomes of children with CMT who received physical therapy versus those who did not?
Finding: The risk of congenital musculoskeletal deformities is increased in CMT. Children who did not receive physical therapy were at greater risk of neurodevelopmental delay.
Meaning: In CMT, musculoskeletal comorbidities should be identified and active early treatment provided.
Other
Risk factors and screening timing for developmental dysplasia of the hip in preterm infants
Ga Won Jeon, Hye Jung Choo, Yong Uk Kwon
Clin Exp Pediatr. 2022;65(5):262-268.   Published online November 5, 2021
Question: When is the best screening timing and what is the risk factor for developmental dysplasia of the hip (DDH) in preterm infants?
Finding: Ultrasonography performed earlier than 38 weeks of postmenstrual age caused unnecessary subsequent ultrasonography. DDH did not occur predominantly on the left side or in breech infants.
Meaning: The screening timing, etiology, and risk factors for DDH in preterm infants are somewhat different from those in term infants.
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.
Neonatology (Perinatology)
Growth patterns of preterm infants in Korea
Joohee Lim, So Jin Yoon, Soon Min Lee
Clin Exp Pediatr. 2022;65(1):1-9.   Published online July 8, 2021
∙ The growth of preterm infants is a main focus of neonatology.
∙ Preterm infants in Korea, especially those with a very low birth weight, achieve retarded growth.
∙ Careful growth monitoring and early intervention will contribute to better development outcomes and quality of life for preterm infants and improve public health.
Original Article
General Pediatrics
Gross motor dysfunction and balance impairments in children and adolescents with Down syndrome: a systematic review
Preyal D. Jain, Akshatha Nayak, Shreekanth D. Karnad, Kaiorisa N. Doctor
Clin Exp Pediatr. 2022;65(3):142-149.   Published online June 11, 2021
Question: What are the primary motor and balance dysfunctions in children with Down syndrome?
Finding: These individuals have gross delays, altered balance, and inefficient compensatory mechanisms.
Meaning: Neuromuscular and musculoskeletal impairments due to the chromosomal abnormality lead to developmental delay. These children also exhibit poor balance with greater instability and inefficient compensatory mechanisms including altered center of pressure displacement and trunk stiffening that predisposes them to falls.
Review Article
Nephrology (Genitourinary)
Obesity and chronic kidney disease: prevalence, mechanism, and management
Hyung Eun Yim, Kee Hwan Yoo
Clin Exp Pediatr. 2021;64(10):511-518.   Published online April 6, 2021
· Obesity is strongly associated with the development and progression of chronic kidney disease.
· Altered renal hemodynamics, metabolic effects, and lipid nephrotoxicity may play a key role in the development of obesity-related kidney disease.
· Children born to obese mothers are at increased risk of developing obesity and chronic kidney disease later in life.
· A multilevel approach is needed to prevent obesity and related chronic diseases.
Neonatology (Perinatology)
Neurodevelopmental outcomes of very low birth weight infants in the Neonatal Research Network of Japan: importance of neonatal intensive care unit graduate follow-up
Yumi Kono; on behalf of the Neonatal Research Network of Japan
Clin Exp Pediatr. 2021;64(7):313-321.   Published online November 9, 2020
· Very low birth weight infants remain at high risk of developing neurodevelopmental impairments in early childhood.
· It is important to establish a network follow-up protocol and complete assessments with fewer dropouts to enable clarification of the outcomes of registered infants.
· All possible strategies should be employed to maintain good compliance after neonatal intensive care unit discharge.
Other
Review of epidemiological studies on air pollution and health effects in children
Jong-Tae Lee
Clin Exp Pediatr. 2021;64(1):3-11.   Published online June 10, 2020
This review summarized the accumulated epidemiologic evidence with emphasis on studies conducted in Korea and heterogeneity in the literature. Based on systematic reviews and meta-analyses, there is consistent evidence on the association between exposure to ambient air pollution and children’s health, especially respiratory health and adverse birth outcomes, and growing evidence on neurodevelopmental outcomes.
Original Article
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.
Review Article
Neurology
Genetic tests by next-generation sequencing in children with developmental delay and/or intellectual disability
Ji Yoon Han, In Goo Lee
Clin Exp Pediatr. 2020;63(6):195-202.   Published online November 4, 2019
Developments in next-generation sequencing (NGS) techogies have assisted in clarifying the diagnosis and treatment of developmental delay/intellectual disability (DD/ID) via molecular genetic testing. Advances in DNA sequencing technology have not only allowed the evolution of targeted panels but also, and more currently enabled genome-wide analyses to progress from research era to clinical practice. Broad acceptance of accuracy- guided targeted gene...
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...
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...

Application of array comparative genomic hybridization in Korean children under 6 years old with global developmental delay
Kyung Yeon Lee, Eunsim Shin
Clin Exp Pediatr. 2017;60(9):282-289.   Published online September 21, 2017
Purpose

Recent advancements in molecular techniques have greatly contributed to the discovery of genetic causes of unexplained developmental delay. Here, we describe the results of array comparative genomic hybridization (CGH) and the clinical features of 27 patients with global developmental delay.

Methods

We included 27 children who fulfilled the following criteria: Korean children under 6 years with global developmental delay; children who had...

Review Article
Neurology
Malformations of cortical development: genetic mechanisms and diagnostic approach
Jeehun Lee
Clin Exp Pediatr. 2017;60(1):1-9.   Published online January 31, 2017

Malformations of cortical development are rare congenital anomalies of the cerebral cortex, wherein patients present with intractable epilepsy and various degrees of developmental delay. Cases show a spectrum of anomalous cortical formations with diverse anatomic and morphological abnormalities, a variety of genetic causes, and different clinical presentations. Brain magnetic resonance imaging has been of great help in determining the exact...

Original Article
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
Neurology
1p36 deletion syndrome confirmed by fluorescence in situ hybridization and array-comparative genomic hybridization analysis
Dong Soo Kang, Eunsim Shin, Jeesuk Yu
Clin Exp Pediatr. 2016;59(Suppl 1):S14-S18.   Published online November 30, 2016

Pediatric epilepsy can be caused by various conditions, including specific syndromes. 1p36 deletion syndrome is reported in 1 in 5,000–10,000 newborns, and its characteristic clinical features include developmental delay, mental retardation, hypotonia, congenital heart defects, seizure, and facial dysmorphism. However, detection of the terminal deletion in chromosome 1p by conventional G-banded karyotyping is difficult. Here we present a case of...

A new mosaic der(18)t(1;18)(q32.1;q21.3) with developmental delay and facial dysmorphism
Young-Jin Choi, Eunsim Shin, Tae Sik Jo, Jin-Hwa Moon, Se-Min Lee, Joo-Hwa Kim, Jae-Won Oh, Chang-Ryul Kim, In Joon Seol
Clin Exp Pediatr. 2016;59(2):91-95.   Published online February 29, 2016

We report the case of a 22-month-old boy with a new mosaic partial unbalanced translocation of 1q and 18q. The patient was referred to our Pediatric Department for developmental delay. He showed mild facial dysmorphism, physical growth retardation, a hearing disability, and had a history of patent ductus arteriosus. White matter abnormality on brain magnetic resonance images was also noted....

Original Article
Genetics and Metabolism
Identification of 1p36 deletion syndrome in patients with facial dysmorphism and developmental delay
Go Hun Seo, Ja Hye Kim, Ja Hyang Cho, Gu-Hwan Kim, Eul-Ju Seo, Beom Hee Lee, Jin-Ho Choi, Han-Wook Yoo
Clin Exp Pediatr. 2016;59(1):16-23.   Published online January 22, 2016
Purpose

The 1p36 deletion syndrome is a microdeletion syndrome characterized by developmental delays/intellectual disability, craniofacial dysmorphism, and other congenital anomalies. To date, many cases of this syndrome have been reported worldwide. However, cases with this syndrome have not been reported in Korean populations anywhere. This study was performed to report the clinical and molecular characteristics of five Korean patients with the...

Nephrology (Genitourinary)
Impaired angiogenesis in the enalapril-treated neonatal rat kidney
Hyung Eun Yim, Kee Hwan Yoo, Eun Soo Bae, Young Sook Hong, Joo Won Lee
Clin Exp Pediatr. 2016;59(1):8-15.   Published online January 22, 2016
Purpose

Nephrogenesis is normally accompanied by a tightly regulated and efficient vascularization. We investigated the effect of angiotensin II inhibition on angiogenesis in the developing rat kidney.

Methods

Newborn rat pups were treated with enalapril (30 mg/kg/day) or vehicle (control) for 7 days after birth. Renal histological changes were checked using Hematoxylin & Eosin staining. We also investigated the intrarenal expression of vascular...

Case Report
De novo interstitial deletion of 15q22q23 with global developmental delay and hypotonia: the first Korean case
Ha-Su Kim, Jin-Yeong Han, Myo-Jing Kim
Clin Exp Pediatr. 2015;58(8):313-316.   Published online August 21, 2015

Interstitial deletions involving the chromosome band 15q22q24 are very rare and only nine cases have been previously reported. Here, we report on a 12-day-old patient with a de novo 15q22q23 interstitial deletion. He was born by elective cesarean section with a birth weight of 3,120 g at 41.3-week gestation. He presented with hypotonia, sensory and neural hearing loss, dysmorphism with...

Review Article
Metabolic evaluation of children with global developmental delay
So-Hee Eun, Si Houn Hahn
Clin Exp Pediatr. 2015;58(4):117-122.   Published online April 22, 2015

Global developmental delay (GDD) is a relatively common early-onset chronic neurological condition, which may have prenatal, perinatal, postnatal, or undetermined causes. Family history, physical and neurological examinations, and detailed history of environmental risk factors might suggest a specific disease. However, diagnostic laboratory tests, brain imaging, and other evidence-based evaluations are necessary in most cases to elucidate the causes. Diagnosis of...

Nutritional strategy of early amino acid administration in very low birth weight infants
Byong Sop Lee
Clin Exp Pediatr. 2015;58(3):77-83.   Published online March 20, 2015

Relative to a fetus of the same gestational age, very low birth weight (VLBW) infants are more likely to be underfed and to undergo growth restriction during their early hospital stay. The current trend towards "early and aggressive" nutritional strategies in VLBW infants aims to overcome the early nutritional deficiency and thereby boost postnatal catch-up growth, simultaneously improving long-term neurodevelopmental...

Debriefing in pediatrics
Su Jin Cho
Clin Exp Pediatr. 2015;58(2):47-51.   Published online February 28, 2015

Debriefing is a conversational session that revolves around the sharing and examining of information after a specific event has taken place. Debriefing may follow a simulated or actual experience and provides a forum for the learners to reflect on the experience and learn from their mistakes. Originating from the military and aviation industry, it is used on a daily basis...

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