Current Pediatric Reviews最新文献

{"title":"Overview of Selective National Guidelines and Clinical Recommendations for Childhood Respiratory Syncytial Virus (RSV) Prophylaxis: A Hong Kong Perspective for Asia.","authors":"Kam Lun Hon, Genevieve P G Fung, Paul K S Chan, Alexander K C Leung","doi":"10.2174/0115733963467358260903071628","DOIUrl":"https://doi.org/10.2174/0115733963467358260903071628","url":null,"abstract":"<p><strong>Introduction: </strong>Respiratory Syncytial Virus (RSV) is a leading cause of lower respiratory tract infections in infants and young children worldwide, with significant morbidity and healthcare burden in Asia. In Hong Kong, RSV seasonality and hospitalization rates underscore the urgent need for effective prophylactic strategies. Recent advances in maternal vaccination and long-acting monoclonal antibodies have expanded the armamentarium for RSV prevention. However, clinical guidelines across Asia remain heterogeneous, and parental hesitancy continues to limit uptake. To address these gaps, selective national guidelines and clinical recommendations were reviewed and a simplified ABC mnemonic framework to integrate antenatal and postnatal prophylaxis with parental counselling were proposed.</p><p><strong>Methods: </strong>A narrative review of published guidelines, policy documents, and clinical recommendations from Hong Kong and selected Asian countries was conducted. Sources included pediatric society statements, Ministry of Health advisories, and World Health Organization (WHO) regional guidance. Comparative analysis focused on prophylaxis strategies, target populations, and implementation challenges. Based on this synthesis, we developed the ABC mnemonic to facilitate recall and communication among clinicians and families.</p><p><strong>Results and discussion: </strong>Variability in RSV prophylaxis adoption across Asia, is as follows: Antenatal Vaccine: Maternal immunization during pregnancy, exemplified by Abrysvo, is recommended in several high-income settings but remains under consideration in Hong Kong and neighboring regions. Evidence supports transplacental antibody transfer, reducing RSV hospitalization in newborns. Baby after Birth: Long-acting monoclonal antibodies such as nirsevimab (Beyfortus) provide direct infant protection for up to five months, covering the peak RSV season. While approved in Europe and the United States, access in Asia is limited by cost and regulatory timelines. Counselling: Parental education emerged as a critical determinant of uptake. Misconceptions about vaccine safety and uncertainty regarding timing hinder implementation. Structured counselling strategies can bridge scientific advances with family decision-making, ensuring continuity of care from pregnancy to infancy. The ABC Mnemonic: Antenatal vaccine (e.g., Abresyvo), Baby after Birth (e.g., Beyfortus), Counselling (e.g., Clesrovimab as an alternative to Beyfortus), offers a concise, memorable framework that aligns clinical interventions with communication needs. It emphasizes the continuum of protection and highlights the indispensable role of parental engagement.</p><p><strong>Conclusion: </strong>RSV prophylaxis in Hong Kong and Asia is at a pivotal juncture, with maternal vaccination and infant monoclonal antibodies poised to transform prevention strategies. Yet, fragmented guidelines and limited awareness impede progress. The ABC mn","PeriodicalId":11175,"journal":{"name":"Current Pediatric Reviews","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2026-10-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149220071","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Influenza Mortality and Morbidity, Vaccine Safety and Hesitancy: A 10-Year Hong Kong Perspective.","authors":"Kam Lun Hon, Alexander K C Leung, Sui Lun Ng, Iris Yat Man Lim, Karen K Y Leung, Paul K S Chan","doi":"10.2174/0115733963489721261007061148","DOIUrl":"https://doi.org/10.2174/0115733963489721261007061148","url":null,"abstract":"","PeriodicalId":11175,"journal":{"name":"Current Pediatric Reviews","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2026-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149179923","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Pediatric MASLD Evolution: A Distinct Entity from Adult Disease in Pathophysiology, Diagnosis, and Non-invasive Evaluation.","authors":"Pratishtha Pawar, Kanika Bhardwaj, Deepika Trehan, Shagufta Akhtar, Kamakshyaa Gurung, Nandini Singh, Jenifar Ahmed, Shamsuz Zaman, Aroonima Misra, Shyam S Meena, Fouzia Siraj","doi":"10.2174/0115733963493273260928074302","DOIUrl":"https://doi.org/10.2174/0115733963493273260928074302","url":null,"abstract":"<p><p>With growth in obesity and metabolic dysfunction globally, Metabolic Dysfunction- Associated Steatotic Liver Disease (MASLD) has emerged as the most common chronic liver disease with a rising trend in children and adolescents. Because of differences in frequency, risk factors, histology, disease progression, and therapy response, pediatric MASLD has emerged as a distinct clinical and histological disease, rather than a lesser variant of the adult disease. In addition to contributions from gut microbiota dysbiosis, epigenetic programming, and microRNA regulation, its pathogenesis also involves interactions among hepatic lipid accumulation, insulin resistance, dysregulated lipogenesis, mitochondrial dysfunction, oxidative stress, and inflammatory and fibrogenic pathways. Early onset of MASLD can progress to advanced fibrosis, cirrhosis, and increased long-term cardiovascular risk. Although liver biopsy remains the gold standard for diagnosis, its invasive nature restricts use in pediatric populations, underscoring the need for reliable non-invasive alternatives. This review compares pediatric and adult MASLD and highlights novel non-invasive and emerging biomarkers and imaging techniques for early diagnosis, staging, and risk assessment in the pediatric population.</p>","PeriodicalId":11175,"journal":{"name":"Current Pediatric Reviews","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2026-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149135511","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Measurement Properties of Autism Spectrum Disorder Screening Instruments: A Systematic Review.","authors":"Amir Mohammad Salehi, Niloofar Rabiei, Shahryar Shahverdi, Sajjad Farashi, Ensiyeh Jenabi, Saeid Bashirian, Mahdieh Seyedi","doi":"10.2174/0115733963434363260911043005","DOIUrl":"https://doi.org/10.2174/0115733963434363260911043005","url":null,"abstract":"<p><strong>Background: </strong>This study provides a systematic review of screening tools for Autism Spectrum Disorder (ASD) and evaluates their psychometric and measurement properties.</p><p><strong>Methods: </strong>A comprehensive search was first conducted on PubMed, Scopus, Web of Science, and CINAHL, and PsycINFO databases. This search was conducted until 3 February 2022 to identify the best psychometric tools in various communities for screening patients with ASD. The quality of the included studies was assessed using the COSMIN checklist.</p><p><strong>Results: </strong>The study included 68 papers and 33 measures; most of them were questionnaires, and the M-CHAT was the most extensively tested. According to the COSMIN checklist, the reliability of one study that used BSIQ for evaluation was excellent. The content validity of a study that used BISCUIT for evaluation was excellent. The hypothesis test was fully explained in 4 studies that used Q-CHAT, FYI, BITSEA, and CBCL1.5-5 tools for evaluation and got a perfect score. The crosscultural validity of a study that used M-CHAT was excellent. The criterion validity of 3 studies that used M-CHAT, BITSEA, and ASSQ was reported as excellent.</p><p><strong>Discussion: </strong>ASD screening tools vary in quality based on age, informant, and culture. Some have solid validity and reliability, but evidence is inconsistent, stressing the need for careful interpretation and further validation.</p><p><strong>Conclusion: </strong>Each ASD screening tool assesses specific skills and various aspects of the disorder; careful evaluation is needed to select the appropriate tool. However, the results of this study highlighted the need for additional validation studies for all the measures.</p>","PeriodicalId":11175,"journal":{"name":"Current Pediatric Reviews","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2026-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149105464","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Health Belief Model Guided Mixed Methods Study of Caregivers Handling Pediatric Oral Liquid Medications in Malaysia.","authors":"Ng Li Yenn, Nur Arzuar Bin Abdul Rahim, Hadzliana Binti Zainal","doi":"10.2174/0115733963499301260831061222","DOIUrl":"https://doi.org/10.2174/0115733963499301260831061222","url":null,"abstract":"<p><strong>Introduction/objective: </strong>At-home pediatric oral liquid medication errors are common, preventable patient-safety risks, yet remain incompletely characterized in Malaysia due to limited theory-driven mixed-methods research and rural-urban comparisons. This study examined caregivers' practices, knowledge gaps, and behavioral determinants related to safe and unsafe handling of pediatric oral liquid medications.</p><p><strong>Methods: </strong>A sequential exploratory mixed-methods study was conducted among rural and urban caregivers in Malaysia. Focus Group Discussions (FGDs; n=40) explored caregiver perspectives; these findings informed the development of a validated cross-sectional survey (n=377) that classified knowledge and perception as good or poor using a prespecified 75% threshold. Theory-driven triangulation identified convergence, divergence, and contextual elaboration to develop a Health Belief Model-informed framework.</p><p><strong>Results: </strong>Six FGD themes (dosing, administration, storage, reconstitution, disposal, caregiver expectations) revealed safety gaps and practical trade-offs. Knowledge and perception were significantly associated (p < 0.001, Cramer's V = 0.185). Tertiary education (vs primary/secondary education) (AOR = 3.68) and older age (AORs = 2.38-5.82) predicted better knowledge. Caring for ≥2 children was associated with better perception (AOR = 1.58), whereas Chinese caregivers had lower odds of good perception (AOR = 0.55, 95% CI: 0.31-0.98). Unsafe practices involved incorrect dosing and administration, inappropriate medication-use behaviors, inconsistent reconstitution, and improper storage and disposal.</p><p><strong>Discussion: </strong>Higher knowledge was associated with better perceptions but did not consistently predict safer self-reported practices. Low confidence, shortcuts, limited prompts, and structural barriers shaped behaviors. These differences may reflect variations in educational exposure, caregiving experience, health literacy, and access to information. Geographic concentration in northern Malaysia and non-probability sampling limited generalizability.</p><p><strong>Conclusion: </strong>Tailored interventions incorporating dosing aids, management algorithms, visual tools, and low-cost digital reminders may improve safety; these strategies warrant formal evaluation.</p>","PeriodicalId":11175,"journal":{"name":"Current Pediatric Reviews","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2026-09-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149012104","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Dual Viral Threats of Influenza and Emerging Chikungunya Fever in a Temperate City: Paediatric Perspectives.","authors":"Iris Lim, K L Hon, Alexander K C Leung, Karen K Y Leung","doi":"10.2174/0115733963483822260812115342","DOIUrl":"https://doi.org/10.2174/0115733963483822260812115342","url":null,"abstract":"<p><p>Hong Kong's paediatric population is currently facing a dual viral challenge: a seasonal surge in influenza and the emergence of locally acquired chikungunya fever. As a temperate city during the winter surge of influenza, Hong Kong has limited experience with this unfamiliar mosquito- vector viral infection. Unlike other tropical cities without a winter influenza surge, such as Singapore, Malaysia and Thailand, our unique experience serves to guide local physicians and physicians in other temperate cities about the two viral infections. Hong Kong Centre for Health Protection (CHP) reported 16 severe pediatric influenza cases from early September 2025 through the end of October 2025, including one fatal case involving influenza B. Most cases were due to influenza A and occurred in previously healthy children aged 11 months to 17 years. Complications of influenza included encephalopathy, pneumonia, shock, sepsis, and myocarditis. Simultaneously, media reports have highlighted the detection of Hong Kong's first indigenous chikungunya case, raising concerns about vector-borne transmission. The co-circulation of these two febrile viral illnesses presents diagnostic and public health challenges for a temperate city that does not have much experience with chikungunya disease. Differentiating between influenza and chikungunya in a febrile patient requires a comprehensive approach that considers epidemiology, clinical features, and laboratory findings of these two febrile diseases. While both can cause a sudden febrile illness with systemic symptoms, the dominance of severe, symmetric, and potentially chronic polyarthralgia, along with a characteristic rash, distinguishes chikungunya, particularly in the context of recent travel to an endemic area, from influenza. In contrast, influenza is characterized by a prominent respiratory component. By following a structured diagnostic approach and utilizing targeted laboratory testing, physicians can accurately distinguish these illnesses, ensure appropriate patient management, and mitigate public health risks.</p>","PeriodicalId":11175,"journal":{"name":"Current Pediatric Reviews","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2026-08-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148808422","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Comparative Performance of Artificial Intelligence Models in Predicting Low Birth Weight: Systematic Review and Narrative Synthesis.","authors":"Fatemeh Shabani, Somayeh Abdolalipour, Sakineh Mohammad-Alizadeh-Charandabi, Mojgan Mirghafourvand","doi":"10.2174/0115733963476613260729200611","DOIUrl":"https://doi.org/10.2174/0115733963476613260729200611","url":null,"abstract":"<p><strong>Background: </strong>Low Birth Weight (LBW), defined as < 2500 g, is a global public health priority. Early prediction is essential for intervention. This systematic review investigates the performance of Artificial Intelligence (AI)/Machine Learning (ML) algorithms for LBW prediction.</p><p><strong>Methods: </strong>Following PRISMA guidelines, Scopus, Web of Science, and PubMed were searched for studies utilizing AI/ML for LBW. Methodological quality was assessed via the PROBAST tool. Due to extreme statistical heterogeneity and inconsistent reporting of metrics, a narrative synthesis approach was employed.</p><p><strong>Results: </strong>Forty studies met inclusion criteria. Quality assessment revealed that 82.5% were at high or unclear risk of bias, primarily due to poor reporting of calibration and data handling. Formal metaanalysis was precluded by extreme statistical heterogeneity (I2>98%) and the role of LBW as a surrogate marker for diverse phenotypes. Narrative synthesis indicated that ensemble architectures (Random Forest, XGBoost) consistently outperformed traditional linear models. Discrimination was significantly higher in high-income settings (AUC: 0.85-0.95) than in resource-limited settings (AUC: 0.65-0.75). Models integrating dynamic data, such as longitudinal ultrasound, demonstrated superior sensitivity over those relying on static clinical history. Performance trends across settings were highly variable, and given the heterogeneity, these findings must be considered strictly exploratory.</p><p><strong>Conclusion: </strong>AI/ML models show promise for LBW prediction, but their efficacy is strictly contextdependent. Widespread methodological bias and lack of calibration metrics currently limit \"bedside readiness.\" Clinical translation requires a transition toward population-specific, interpretable tools validated through rigorous external cohorts.</p>","PeriodicalId":11175,"journal":{"name":"Current Pediatric Reviews","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2026-08-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148808455","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Motor, Cognitive, and Language Development in Preterm Infants: A Systematic Review with Meta-analysis.","authors":"Sany Fernandes, Nadia C Valentini, Lucia Andreis, Anelise Sonza, Andresa M C Germano, Francisco Rosa Neto","doi":"10.2174/0115733963476867260722112257","DOIUrl":"https://doi.org/10.2174/0115733963476867260722112257","url":null,"abstract":"<p><strong>Introduction/objective: </strong>Preterm birth is associated with an increased risk of early neurodevelopmental difficulties, but reported prevalence varies widely across studies and across degrees of prematurity. This review aimed to estimate the prevalence of motor, language, and cognitive delays in preterm infants according to the degree of prematurity.</p><p><strong>Methods: </strong>This review followed the PRISMA guidelines and was registered in the International Prospective Register of Systematic Reviews (PROSPERO CRD42021252388). PubMed, VHL, SciELO, Scopus, and Embase were searched for cohort and cross-sectional studies published from January 2012 to February 2023 in English, Portuguese, or Spanish. Eligible studies evaluated preterm infants from birth to 24 months of corrected age using the Bayley Scales of Infant and Toddler Development (BSID/BSITD), the Brunet-Lézine Scale, or the Denver Developmental Screening Test. Randomeffects proportional meta-analyses using the Freeman-Tukey double-arcsine transformation were conducted to estimate the prevalence of mild and significant motor, language, and cognitive delays.</p><p><strong>Results: </strong>Twenty-two studies were included, and pooled analyses included 2,958-3,258 infants, depending on the outcome. The Bayley Scales were used in all included studies, whereas the Brunet- Lezine and Denver instruments were each reported in one study in combination with the Bayley. The pooled prevalence of mild delays was highest for language (22.73%; 95% CI: 13.92-32.93), followed by motor (18.15%; 95% CI: 10.72-26.91) and cognitive (11.90%; 95% CI: 5.80-19.71) domains. Significant delays were less frequent overall. Extremely preterm infants showed the highest prevalence across domains, especially for mild motor and language delays.</p><p><strong>Discussion: </strong>Considerable heterogeneity was observed across analyses, likely reflecting differences in assessment age, Bayley edition, clinical profiles, and study settings. Therefore, pooled estimates should be interpreted with caution.</p><p><strong>Conclusion: </strong>Preterm infants, particularly those born extremely preterm, present a substantial prevalence of neurodevelopmental delays during the first two years of life. These findings support early developmental surveillance, timely referral, and targeted intervention in this high-risk paediatric population.</p>","PeriodicalId":11175,"journal":{"name":"Current Pediatric Reviews","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2026-07-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148600131","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Effect of Phototherapy on Calcium, Magnesium, and Vitamin D Levels in Neonates with Hyperbilirubinemia: A Systematic Review and Meta-Analysis.","authors":"Rasol Molatefi, Mehrdad Mirzarahimi, Mojgan Mirghafourvand, Abdollah Vazifeh","doi":"10.2174/0115733963451506260720071837","DOIUrl":"https://doi.org/10.2174/0115733963451506260720071837","url":null,"abstract":"<p><strong>Introduction: </strong>This study aimed to evaluate the impact of phototherapy on serum calcium, magnesium, and vitamin D levels in term neonates.</p><p><strong>Methods: </strong>This study was conducted in accordance with the PRISMA statement. A comprehensive search of PubMed, Scopus, Web of Science, the Cochrane Library, and the Scientific Information Database (SID) was performed up to August 20, 2025. Pooled effect sizes were calculated as Hedges' g and mean differences (MD) with 95% Confidence Intervals (CIs) using random-effects models. Heterogeneity was assessed using the I2 statistic. Study quality was appraised using the Newcastle- Ottawa Scale, ROBINS-I, and RoB 2 tools, and the certainty of evidence was evaluated per GRADE methodology.</p><p><strong>Results: </strong>Twenty-seven studies were included. Phototherapy was associated with a significant decrease in serum calcium (Hedges' g = -0.67; 95% CI: -0.89 to -0.45; MD: -0.57 mg/dL; 95% CI: - 0.75 to -0.40; 22 studies; 2,406 participants) and magnesium levels (Hedges' g = -1.09; 95% CI: - 1.54 to -0.63; MD: -0.21 mg/dL; 95% CI: -0.33 to -0.10; 10 studies; 863 participants), with considerable heterogeneity observed for both outcomes. Vitamin D levels showed a non-significant overall increase (Hedges' g = 0.40; 95% CI: -0.06 to 0.87; MD: 5.86 nmol/L; 95% CI: -2.06 to 13.77; 7 studies; 517 participants; p = 0.091). The pooled prevalence of hypocalcemia and hypomagnesemia following phototherapy was 26.1% (95% CI: 20.8% to 32.3%) and 23.8% (95% CI: 18.6% to 30.0%), respectively. The certainty of evidence was rated as low for calcium and magnesium, and very low for vitamin D.</p><p><strong>Discussion: </strong>This meta-analysis indicates that phototherapy in term neonates is associated with significant decreases in serum calcium and magnesium, while its effect on vitamin D remains inconclusive. These findings highlight the need for monitoring electrolyte balance in at-risk neonates, although routine supplementation is not currently supported by the evidence.</p><p><strong>Conclusion: </strong>Phototherapy is associated with a significant decrease in calcium and magnesium levels in term neonates. Given the low certainty of evidence, high-quality randomized controlled trials with standardized protocols are warranted to guide clinical practice. PROSPERO registration number: CRD42025638904.</p>","PeriodicalId":11175,"journal":{"name":"Current Pediatric Reviews","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2026-07-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148600135","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Uniparental Disomy: A Scoping Review of Diagnostic Challenges, Clinical Spectrum, and Counselling Implications.","authors":"Vishnu Balachandran, Amit Singh, Navdeep Dhoat, Inusha Panigrahi, Preeti Khetarpal","doi":"10.2174/0115733963456055260516070654","DOIUrl":"https://doi.org/10.2174/0115733963456055260516070654","url":null,"abstract":"<p><strong>Introduction: </strong>Uniparental disomy (UPD) is a rare chromosomal anomaly causing significant clinical implications in many affected individuals. In the case of UPD, a pair of homologous chromosomes or segments of it is inherited from only one parent. This can disrupt genomic imprinting, create long stretches of homozygosity, leading to diverse genetic and epigenetic syndromes. This scoping review has aimed to summarize postnatally reported UPD cases, tabulate chromosomespecific clinical characteristics, molecular diagnostic methodologies being utilized, and to formulate a standardised diagnostic workflow.</p><p><strong>Materials and methods: </strong>A systematic literature search was conducted in PubMed, Scopus, and Web of Science up to 28 March 2025. Postnatally reported UPD cases were included. Extracted data comprised involved chromosomes, parental origin of disomy, clinical presentation of the affected individuals, and diagnostic approaches utilized.</p><p><strong>Results: </strong>A total of 1507 UPD cases from 632 studies were analysed. UPDs were reported across all chromosomes, with the highest prevalence in chromosomes 11 (24.30%), 15 (18.64%), 7 (13.04%), and 14 (12.11%). The least affected were chromosomes 3, 9, 10, 12, 13, 17, 18, 19, 21, and X (<1% each). Mosaic UPD was identified in 15% of cases. Among the published cases, common clinical features included developmental delay, growth restriction, intellectual disability, and craniofacial dysmorphism. Most frequently employed diagnostic techniques included microsatellite/STR marker analysis, SNP microarray, methylation-specific MLPA, and whole-exome sequencing.</p><p><strong>Discussion: </strong>Among all the chromosomes involved in UPD, the highest clinical relevance is observed in chromosomes 7, 11, 14, and 15. Among the techniques utilized for the detection and confirmation of UPDs, microsatellite/STR analysis is considered the gold standard. For higher efficiency and accuracy, better clinical interpretations, and proper genetic counselling opportunities, an integrated diagnostic workflow strategically targeting both genetic and epigenetic aspects is required.</p><p><strong>Conclusion: </strong>In this review, the clinical impact of different types of UPDs involving various chromosomes is highlighted. An integrated (epi/genetic) approach as a diagnostic framework is proposed.</p>","PeriodicalId":11175,"journal":{"name":"Current Pediatric Reviews","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2026-06-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148263709","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}