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.
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.
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