Clinical and Experimental Pediatrics

Original Article

Neurology

Clinical application of whole exome and genome sequencing in pediatric neurodevelopmental disorders

Keun Soo Lee, Seung Hwan Oh, Ja Young Lee, Go Hun Seo, Da Eun Roh, Ji Kyoung Park, Bo Lyun Lee

Clin Exp Pediatr. 2026;69(5):417-427. Published online April 22, 2026

Question: What is the diagnostic utility of whole exome sequencing (WES) and whole genome sequencing (WGS) in unexplained neurodevelopmental disorders (NDDs)?
Finding: WES and WGS achieved a combined diagnostic yield of 39.1% in children with NDDs. Novel variants accounted for over half the pathogenic findings, and trio-based or phenotype-driven testing improved the diagnostic rate.
Meaning: Comprehensive genomic sequencing integrated with clinical phenotyping enhances diagnostic yield among children with NDDs.

DOI: https://doi.org/10.3345/cep.2025.02775

Review Article

Neonatology (Perinatology)

Optimal postnatal corticosteroid regimens to prevent bronchopulmonary dysplasia with minimal adverse effects

Ga Won Jeon

Clin Exp Pediatr. 2026;69(4):293-300. Published online March 27, 2026

Postnatal corticosteroids facilitate ventilator weaning and reduce the risk of bronchopulmonary dysplasia (BPD). Despite being commonly used in high-risk infants, administration guidelines have not been established. Early dexamethasone may cause neurodevelopmental harm, and the optimal dosing remains uncertain. Inhaled corticosteroids show inconclusive benefits, whereas intratracheal administration with surfactant appears promising. Thus, corticosteroids should be used cautiously in high-risk, ventilator-dependent infants with severe BPD, and further high-quality trials are needed.

DOI: https://doi.org/10.3345/cep.2026.00108

Endocrinology

Association between pre- and postnatal exposure to endocrine-disrupting chemicals and birth and neurodevelopmental outcomes: an extensive review

Ozge Yesildemir, Mensure Nur Celik

Clin Exp Pediatr. 2024;67(7):328-346. Published online November 16, 2023

Web of Science 13 Crossref 14

· Sensitivity to endocrine-disrupting chemical (EDC) exposure increases during critical developmental periods (in embryos, fetuses, and neonates).
· Pre- and postnatal exposure to EDCs is associated with fetal growth restriction, preterm birth, and low birth weight.
· Exposure to EDCs during fetal and early postnatal life can have lasting and lifelong neurodevelopmental outcomes, including autism spectrum, attention deficit hyperactivity, and other cognitive and behavioral disorders.

DOI: https://doi.org/10.3345/cep.2023.00941

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

Web of Science 6 Crossref 6

· 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.

DOI: https://doi.org/10.3345/cep.2022.01235

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