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"Neurodevelopmental disorder"

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"Neurodevelopmental disorder"

Original Article

Pediatric rehabilitation

Effectiveness of the National Health Screening Program for Infants and Children in Detecting Neurodevelopmental Disorders: A Nationwide Population-Based Analysis
Seong Woo Kim, Na Yoon Yoo, Yeji Kim, Taemi Youk, Seungbeen Hong
Ann Rehabil Med 2026;50(1):62-70.   Published online February 11, 2026
DOI: https://doi.org/10.5535/arm.250061
Objective
To evaluate the effectiveness of the National Health Screening Program for Infants and Children (NHSPIC) in the early diagnosis of neurodevelopmental disorders (NDDs) utilizing data from the National Health Insurance Database of South Korea.
Methods
We enrolled children born between 2011 and 2018 who completed the first to fourth stages of the NHSPIC. A positive finding was defined as a recommendation for further evaluation during one or more stages. Participants were categorized into the positive and negative finding groups. Following 1:1 propensity score matching, 82,138 participants were assigned to each group.
Results
Comparative analysis revealed that participants with positive findings exhibited a higher risk of developing all seven NDDs, particularly for autism spectrum disorder (hazard ratio [HR], 19.70; 95% confidence interval [CI], 17.48–22.20), intellectual disability (HR, 17.11; 95% CI, 14.69–19.93), developmental language disorder (HR, 11.74; 95% CI, 10.73– 12.84), and cerebral palsy (HR, 11.34; 95% CI, 8.67–14.84). The HR for learning disability was 4.31 (95% CI, 2.94–6.34), whereas attention-deficit hyperactivity disorder had an HR of 3.57 (95% CI, 3.37–3.78). Tic disorder had the lowest HR (HR, 1.64; 95% CI, 1.48–1.82). Additionally, HRs were calculated for each NHSPIC stage, demonstrating the utility of specific stages in the early detection of each NDD.
Conclusion
Developmental screening tests in the NHSPIC contributed to the early diagnosis of NDDs. This study underscores the significance of the NHSPIC and provides foundational evidence to inform and enhance policies related to child health screenings.
  • 99 View
  • 15 Download
Review Articles

Pediatric rehabilitation

Genetics of Cerebral Palsy: Diagnosis, Differential Diagnosis, and Beyond
Dae-Hyun Jang, Jaewon Kim, Aloysia Leisanne Schwabe, Timothy Edward Lotze
Ann Rehabil Med 2024;48(6):369-376.   Published online December 23, 2024
DOI: https://doi.org/10.5535/arm.240081
Cerebral palsy (CP) is the most common motor disability in children, characterized by diverse clinical manifestations and often uncertain etiology, which has spurred increasing interest in genetic diagnostics. This review synthesizes findings from various studies to enhance understanding of CP’s genetic underpinnings. The discussion is structured around five key areas: monogenic causes and copy number variants directly linked to CP, differential genetic disorders including atypical CP and mimics, ambiguous genetic influences, co-occurrence with other neurodevelopmental disorders, and polygenic risk factors. Case studies illustrate the clinical application of these genetic insights, underscoring the complexity of diagnosing CP due to the phenotypic overlap with other conditions and the potential for misdiagnosis. The review highlights the significant role of advanced genetic testing in distinguishing CP from similar neurodevelopmental disorders and assessing cases with unclear clinical presentations. Furthermore, it addresses the ongoing challenges in establishing a consensus on genetic contributors to CP, the need for comprehensive patient phenotyping, and the integration of rigorous genetic and functional studies to validate findings. This comprehensive examination of CP genetics aims to pave the way for more precise diagnostics and personalized treatment plans, urging continued research to overcome the current limitations and refine diagnostic criteria within this field.

Citations

Citations to this article as recorded by  
  • Advances in Genetic Discoveries in Cerebral Palsy: Implications for Diagnosis, Prognosis, and Counseling
    Juan Darío Ortigoza-Escobar
    Current Neurology and Neuroscience Reports.2026;[Epub]     CrossRef
  • The placenta as a window into neonatal brain injury
    Elmira Bachinsky, Lauren Guyer, Riddhi Patel, Stephen K. Amoah, Diana Ortega, Shenandoah Robinson, Hawley Helmbrecht, Lauren L. Jantzie
    Seminars in Perinatology.2025; 49(8): 152143.     CrossRef
  • Thoracic Spinal Arachnoid Cyst in a Patient With Cerebral Palsy: Clinical Evaluation and Technical Note
    Jordan M Rasmussen, Patrick Opperman, Afshin Salehi
    Cureus.2025;[Epub]     CrossRef
  • Наследственные атаксии, протекающие под маской детского церебрального паралича
    Daria S. Razheva, Gareguin Sh. Khondkarian, Nikolay N. Zavadenko
    L.O. Badalyan Neurological Journal.2025; 6(3): 140.     CrossRef
  • 10,373 View
  • 209 Download
  • 2 Web of Science
  • 4 Crossref

Pediatric rehabilitation

Early Neurodevelopmental Assessments of Neonates Discharged From the Neonatal Intensive Care Unit: A Physiatrist’s Perspective
Sung Eun Hyun, Jeong-Yi Kwon, Bo Young Hong, Jin A Yoon, Ja Young Choi, Jiyeon Hong, Seong-Eun Koh, Eun Jae Ko, Seung Ki Kim, Min-Keun Song, Sook-Hee Yi, AhRa Cho, Bum Sun Kwon
Ann Rehabil Med 2023;47(3):147-161.   Published online June 27, 2023
DOI: https://doi.org/10.5535/arm.23038
The survival rate of children admitted in the neonatal intensive care unit (NICU) after birth is on the increase; hence, proper evaluation and care of their neurodevelopment has become an important issue. Neurodevelopmental assessments of individual domains regarding motor, language, cognition, and sensory perception are crucial in planning prompt interventions for neonates requiring immediate support and rehabilitation treatment. These assessments are essential for identifying areas of weakness and designing targeted interventions to improve future functional outcomes and the quality of lives for both the infants and their families. However, initial stratification of risk to select those who are in danger of neurodevelopmental disorders is also important in terms of cost-effectiveness. Efficient and robust functional evaluations to recognize early signs of developmental disorders will help NICU graduates receive interventions and enhance functional capabilities if needed. Several age-dependent, domain-specific neurodevelopmental assessment tools are available; therefore, this review summarizes the characteristics of these tools and aims to develop multidimensional, standardized, and regular follow-up plans for NICU graduates in Korea.

Citations

Citations to this article as recorded by  
  • Early developmental intervention and neurodevelopmental trajectories in preterm infants without severe brain injury
    Jungha Yun, Seong Phil Bae, Do Hyun Kim, Woo Ryoung Lee, Suyeon Park
    Pediatric Research.2026;[Epub]     CrossRef
  • Recurrent peripheral intravenous catheterization in neonates: A case series
    Stephanie Hall, Emily Larsen, Linda Cobbald, Nicole Marsh, Linda McLaughlin, Mari Takashima, Robert S. Ware, Amanda Ulman, Deanne August
    Nursing in Critical Care.2025;[Epub]     CrossRef
  • Evaluating Non-Invasive Computer Vision-Based Quantification of Neonatal Movement as a Marker of Development in Preterm Infants: A Pilot Study
    Janet Pigueiras-del-Real, Lionel C. Gontard, Isabel Benavente-Fernández, Syed Taimoor Hussain, Syed Adil Hussain, Simón P. Lubián-López, Angel Ruiz-Zafra
    Healthcare.2025; 13(13): 1577.     CrossRef
  • Improvement in functional motor scores in patients with non-ambulatory spinal muscle atrophy during Nusinersen treatment in South Korea: a single center study
    Jin A. Yoon, Yuju Jeong, Jiae Lee, Dong Jun Lee, Kyung Nam Lee, Yong Beom Shin
    BMC Neurology.2024;[Epub]     CrossRef
  • NICU Graduates and Psychosocial Problems in Childhood: A Systematic Review
    Ravi Gajula, Veerabadram Yeshala, Nagalakshmi Gogikar, Rakesh Kotha
    Cureus.2024;[Epub]     CrossRef
  • Performance of Activities of Daily Living in Typically Developing Children in Korea: Normative Value of K-MBI
    Mi-Jeong Yoon, Sungwoo Paek, Jongbin Lee, Youngdeok Hwang, Joon-Sung Kim, Yeun-Jie Yoo, Bo Young Hong
    Annals of Rehabilitation Medicine.2024; 48(4): 281.     CrossRef
  • Modern approaches to assessing motor development in infants and young children in clinical practice
    Natalia V. Andrushchenko, Alexander B. Palchik, Marina V. Osipova
    Russian Family Doctor.2024; 28(4): 24.     CrossRef
  • 10,715 View
  • 209 Download
  • 9 Web of Science
  • 7 Crossref
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