In recent years, improved neonatal care has led to increased survival of small extreme preterm and very sick newborns, albeit with higher long-term morbidities. The aim of our care is not just newborn survival but to ensure comprehensive intactness of the survived neonate. Here lies the role of early intervention (EI) and developmentally supportive care (DSC). It starts from periconceptional period and continues in utero-natal-postnatal periods and beyond discharge from the neonatal intensive care unit (NICU). The strategy should be to provide in-utero environment in NICU to the extent possible, to prevent disability and reduce any long-term morbidity. EI should focus on each and every organ of body and not just brain. EI is a team effort, with mother playing a pivotal role. Kangaroo mother care is the cornerstone of EI. Focused attention should be given to prevent contractures at the joints. To ensure the compliance, a checklist should be devised on DSC and EI and to be followed in daily EI rounds in addition to the service rounds in the NICU.
Joubert syndrome (JS) is a rare ciliopathy that presents with the triad of hypotonia, developmental delay and molar tooth sign (MTS) in brain MRI. Next-generation sequencing has identified about 35 genes which are known to cause JS of which CPLANE 1 mutation is found in 8%–10% of cases. We report a case of JS in an Indian neonate who presented with hypotonia, dysmorphic facies, polydactyly, syndactyly and occipital encephalocele. MRI of the brain revealed MTS, and compound heterozygous mutations in CPLANE 1 gene were detected by clinical exome sequencing, one of them a novel variant CPLANE 1: c.5051C>A (p.Ser1684Ter) in exon 26, which was inherited from the parents.
Introduction Newborns admitted to the neonatal intensive care unit (NICU) are under tremendous stress. The “OM” sound is known to have a calming effect on adults. The effect of administering chants of “OM” to newborns is unknown. Objectives Primary Objective To evaluate the effect of the “OM” sound on vital parameters in newborns admitted to the NICU. Secondary Objectives To observe the duration of the effect of the “OM” sound on vital parameters after the music therapy and to observe its effect at various gestational ages. Methods Prospective observational study was carried out over 4 months. 57 newborns enrolled were administered music therapy by playing recorded chants of “OM” mantra (MTOM). Vitals were recorded before, during, and after MTOM. Results The heart rate (HR) before and with MTOM was 142 ± 7 and 130 ± 11 bpm ( p = .001). The decrease in HR persisted even after 1 h of stoppage of MTOM ( p = .001). A significant decrease in HR was observed in all gestations ( p = .001). There was no significant difference in respiratory rate (RR) and SpO2 before and with MTOM. Conclusion MTOM significantly reduces HR in newborns of all gestational ages, and its effect persists for at least 1 h after stopping MTOM.
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