{"title":"Genetic Modulation of One-Carbon Metabolism in Autism Spectrum Disorder: An MTHFR-Based Cross-Sectional Study with Neurotypical Controls.","authors":"Priyanshu Mathur, Sakshi Mathur, Ashmeet Kaur, Urvashi Vijay, Aruna Vyas, Gayatri Danger","doi":"10.1007/s12098-026-06424-1","DOIUrl":"10.1007/s12098-026-06424-1","url":null,"abstract":"<p><strong>Objectives: </strong>Autism spectrum disorder (ASD) is a heterogeneous neurodevelopmental condition in which disruptions in one-carbon metabolism, regulated by methylenetetrahydrofolate reductase (MTHFR), may contribute to phenotypic variability. This study investigated MTHFR C677T and A1298C polymorphisms and their association with serum vitamin B12, folate, and ASD risk in children.</p><p><strong>Methods: </strong>One hundred children with ASD and 100 age-matched neurotypical controls were enrolled. MTHFR genotyping was performed by allele-specific real-time PCR. Serum vitamin B12 and folate by enzyme-linked immunosorbent assay. Associations were assessed using logistic regression under dominant, additive, and recessive genetic models. Discrimination was evaluated by receiver operating characteristic analysis.</p><p><strong>Results: </strong>The C677T TT genotype was overrepresented in ASD cases (57% vs. 43% controls), with significant Hardy-Weinberg deviation (χ² = 21.812, p <0.0001). Mutant A1298C genotypes were observed in 79% of cases. Vitamin B12 declined with increasing C677T T-allele dosage (p <0.001) and folate with A1298C C-allele burden (p = 0.003). Higher vitamin B12 independently associated with reduced ASD odds (OR 0.36, 95% CI 0.17-0.76, p = 0.008). C677T TT homozygosity was significantly associated with increased ASD odds under the recessive model (OR 1.76, 95% CI 1.00-3.08, p = 0.049). A1298C was non-significant across all models, indicating modest discrimination suitable for exploratory purposes only.</p><p><strong>Conclusions: </strong>Children with ASD showed a high burden of functional MTHFR variants with genotype-linked metabolic variation. TT homozygosity was associated with ASD risk under recessive model, supporting a threshold-dependent genetic effect on one-carbon metabolism. These findings warrant prospective validation in larger independent cohorts.</p>","PeriodicalId":13320,"journal":{"name":"Indian Journal of Pediatrics","volume":" ","pages":"1190-1195"},"PeriodicalIF":2.4,"publicationDate":"2026-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149016798","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Reducing Hypothermia Among Intramural Vaginally Born Preterm Neonates Admitted in Neonatal Intensive Care Unit at a Tertiary Care Centre Using Quality Improvement Approach.","authors":"Sahiba Madaan, Saikat Patra, Chinmay Chetan, Ashok Kumar Deorari, Ruchira Nautiyal, Rashmi Rajput, Enas Mushtaq","doi":"10.1007/s12098-026-06361-z","DOIUrl":"10.1007/s12098-026-06361-z","url":null,"abstract":"<p><strong>Objectives: </strong>To reduce admission hypothermia (<36.5°C) in intramural preterm neonates delivered vaginally and admitted to the neonatal intensive care unit (NICU) at a tertiary care hospital in India. The study aimed to decrease the incidence of neonatal admission hypothermia from 80% by 50% using quality improvement (QI) approach.</p><p><strong>Methods: </strong>This QI study was conducted at a tertiary care centre in North India. The study included 138 preterm neonates (gestation <37 wk) born vaginally and admitted to the NICU. The Point of Care Quality Improvement tool (POCQI) was used with multiple Plan-Do-Study-Act (PDSA) cycles. Following baseline admission temperature data collection, the root cause analysis was conducted using fishbone analysis. Change ideas tested included maintaining labor room (LR) temperature, deferring weighing and vitamin K administration from LR to NICU, stabilizing temperature in LR before shifting to NICU, using pre-warming linens, additional layers of cloth and blankets along with plastic wraps during transport and staff education on standard operating procedures (SOP) to reduce admission hypothermia. Data were analyzed using RUN charts for effectiveness.</p><p><strong>Results: </strong>Baseline hypothermia incidence was 80%, with a median admission temperature of 35.3°C. Following implementation of QI interventions, hypothermia rates reduced significantly to near nil over the study period. Seasonal variations led to temporary fluctuations, but sustained improvements were achieved with continuous staff training and adherence to new SOPs.</p><p><strong>Conclusions: </strong>The structured QI approach effectively reduced admission hypothermia among preterm neonates by implementing evidence-based thermoregulatory interventions.</p>","PeriodicalId":13320,"journal":{"name":"Indian Journal of Pediatrics","volume":" ","pages":"1169-1174"},"PeriodicalIF":2.4,"publicationDate":"2026-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148619866","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Shared Decision Making in the Neonatal Intensive Care Unit in Low Middle Income Countries - A Myth or A Path to Reality: Correspondence.","authors":"Nalakath A Uvais","doi":"10.1007/s12098-026-06446-9","DOIUrl":"10.1007/s12098-026-06446-9","url":null,"abstract":"","PeriodicalId":13320,"journal":{"name":"Indian Journal of Pediatrics","volume":" ","pages":"1258"},"PeriodicalIF":2.4,"publicationDate":"2026-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148857347","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Shreya Sharma, Alpesh Goyal, Dona Maria Philip, Nikhil Tandon
{"title":"Pattern and Persistence of Islet Autoantibodies and their Immunogenetic Association among Type 1 Diabetes Patients from North India: Authors' Reply.","authors":"Shreya Sharma, Alpesh Goyal, Dona Maria Philip, Nikhil Tandon","doi":"10.1007/s12098-026-06399-z","DOIUrl":"10.1007/s12098-026-06399-z","url":null,"abstract":"","PeriodicalId":13320,"journal":{"name":"Indian Journal of Pediatrics","volume":" ","pages":"1255"},"PeriodicalIF":2.4,"publicationDate":"2026-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148989663","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Pre-discharge Outcomes of Very Preterm and Very Low Birth Weight Infants from a Tertiary Care Neonatal Center in India.","authors":"Rachana R D, Venkateshwarlu Vardhelli, Pallavi Chandra Ravula, Ridhima Gadepalli, Sireesha Tirumalaraju, Sruthi Nair, Sumayya Hafeez, Sruthi Thiruveedi, Sajal Das, Saikiran Deshabhotla, Tejo Pratap Oleti","doi":"10.1007/s12098-026-06391-7","DOIUrl":"10.1007/s12098-026-06391-7","url":null,"abstract":"<p><strong>Objectives: </strong>This study reports pre-discharge survival and clinical outcomes of very preterm infants (VPI) and very low birth weight (VLBW) infants from a tertiary-care, inborn neonatal unit in India.</p><p><strong>Methods: </strong>In this retrospective study, inborn neonates admitted between 2013 and 2022 over a 10-y period were included. VLBW group included infants with birth weight (BW) of 500-1499 g with GA ≥26 wk and VPI group included infants with 26<sup>⁰/₇</sup>-31<sup>⁶/₇</sup> wk gestational age (GA). Infants with major congenital anomalies, inborn errors of metabolism, or those transferred to another hospital before completion of treatment were excluded.</p><p><strong>Results: </strong>A total of 2063 VLBW infants and 1663 VPI were analyzed. In the VLBW group, the mean GA and birth weight were 30.4 wk and 1173 g, respectively. Survival was 90.6% among VLBW infants and 76.9% among extremely low birth weight infants. Major morbidities included late-onset culture-positive sepsis (LOS: 18.1%), intraventricular hemorrhage (IVH) ≥ Grade II (7.1%), and retinopathy of prematurity (ROP) requiring treatment (2.2%). In the VPI group, mean GA and birth weight were 30.0 wk and 1180 g. Survival rates were 89.1% for VPI and 66.8% for the extremely preterm subgroup. Rates of LOS, IVH ≥ Grade II, ROP requiring treatment, and bronchopulmonary dysplasia in VPI were 20.9%, 8.8%, 2.5%, and 2.9%, respectively.</p><p><strong>Conclusions: </strong>Very preterm and VLBW infants demonstrated high survival with low rates of major morbidities. However, improvement in survival at lower gestational ages remains a key area for improvement.</p>","PeriodicalId":13320,"journal":{"name":"Indian Journal of Pediatrics","volume":" ","pages":"1196-1202"},"PeriodicalIF":2.4,"publicationDate":"2026-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148697348","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Household Agarbatti (Incense Stick) and Combustion-Based Ritual Item Use as Indoor Air Pollutant Exposure in Pediatric Allergy Patients: A Cross-Sectional Analytical Study.","authors":"Chandan Narwani, Priti Narwani","doi":"10.1007/s12098-026-06481-6","DOIUrl":"10.1007/s12098-026-06481-6","url":null,"abstract":"","PeriodicalId":13320,"journal":{"name":"Indian Journal of Pediatrics","volume":" ","pages":"1234"},"PeriodicalIF":2.4,"publicationDate":"2026-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149108995","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}