The hybrid telemedicine system is a safe and effective strategy for extending intensive care to neonates in medically underserved areas.

SummaryPure subtelomeric deletion of the long arm of chromosome 6 is rare. The frequency of this deletion accounts for approximately 0.05% of subjects with intellectual disability and developmental delay with or without dysmorphic features. Common phenotypes associated with this deletion include intellectual disability, developmental delay, dysmorphic features, seizure, hypotonia, microcephaly and hypoplasia of the corpus callosum. The smallest overlapped region is approximately 0.4 Mb, and contains three known genes. Of these genes, TBP has been considered as a plausible candidate gene for the phenotype in patients with a subtelomeric 6q deletion. Analysis of the breakpoints in 14 cases revealed a potential common breakpoint interval 8.0-9.0 Mb from the chromosome 6q terminus where the FRA6E fragile site exists and the PARK2 gene is located. This suggests that breakage at the FRA6E fragile site may be the mechanism behind chromosome 6q subtelomeric deletion in some of the cases.

Objective: To evaluate the safety and efficacy of premature infant treatment managed by hybrid telemedicine versus conventional care. Methods: Prospective, noninferiority study comparing outcomes of premature infants at Comanche County Memorial Hospital's (CCMH) Level II neonatal intensive care unit (NICU) with outcomes at OU Medical Center's (OUMC) Level IV NICU. All 32-35 weeks gestational age (GA) infants admitted between May 2015 and October 2017 were included. Infants requiring mechanical ventilation >24 h or advanced subspecialty care were excluded. Outcome variables were: length of stay (LOS), respiratory support, and time to full per oral (PO) feeds. Parents at both centers were surveyed about their satisfaction with the care provided. Between-group comparisons were performed by using Chi-square or Fisher's exact test. LOS was assessed for normality by using the Shapiro-Wilk test, and robust regression was used to construct a multivariable regression model to test the independent effect of location on LOS. All analyses were performed by using SAS v. 9.3 (SAS Institute, Cary, NC). Results: Data from 85 CCMH and 70 OUMC neonates were analyzed. CCMH neonates had significantly shorter LOS, reached full PO feeds sooner, and had fewer noninvasive ventilation support days. Location had a significant independent effect (p = 0.001) on LOS while controlling for GA, gender, race, surfactant use, inborn/outborn status, and 5-min APGAR scores. CCMH patients had reduced LOS of 3.01 days (95% confidence interval 1.1-4.8) than OUMC patients. Eighty-five surveys at CCMH and 66 at OUMC were analyzed. Compared with CCMH, OUMC parents reported more travel distance difficulties. 92.5% reported telemedicine experience as good or excellent, whereas 1.5% reported it as poor. Conclusion(s): Hybrid telemedicine is a safe and effective way to extend intensive neonatal care to medically underserved areas. Parental satisfaction with use of hybrid telemedicine is high and comparable to conventional care.

Despite clinical and technological advances, serious gaps remain in delivering genetic services due to disparities in workforce distribution and lack of coverage for genetic testing and counseling. Genetic services delivery, particularly in medically underserved populations, may rely heavily on primary care providers (PCPs). This study aims to identify barriers to integrating genetic services and primary care, and strategies to support integration, by conducting a scoping review. Literature synthesis found barriers most frequently cited by PCPs including insufficient knowledge about genetics and risk assessment, lack of access to geneticists, and insufficient time to address these challenges. Telegenetics, patient-centered care, and learning communities are strategies to overcome these barriers. Telegenetics supplements face-to-face clinics by providing remote access to genetic services. It may also be used for physician consultations and education. Patient-centered care allows providers, families, and patients to coordinate services and resources. Access to expert information provides a critical resource for PCPs. Learning communities may represent a mechanism that facilitates information exchange and knowledge sharing among different providers. As PCPs often play a crucial role caring for patients with genetic disorders in underserved areas, barriers to primary care-medical genetics integration must be addressed to improve access. Strategies, such as telegenetics, promotion of evidence-based guidelines, point-of-care risk assessment tools, tailored education in genetics-related topics, and other system-level strategies, will facilitate better genetics and primary care integration, which in turn, may improve genetic service delivery to patients residing in underserved communities.

Background: During the COVID-19 pandemic, telemedicine plays a critical role in providing safe, effective healthcare services, while reinforcing social distancing and optimizing the use of personal protective equipment. In this context, the Oklahoma Children's Hospital implemented virtual neonatology prenatal visits for pregnant women with a diagnosis of fetal anomalies. While tele-consultations have been broadly used with a high degree of acceptance in rural and remote areas, satisfaction has not been assessed in this particular scenario, where patients and physicians discussing sensitive healthcare information had to rapidly adjust to this new modality.Objectives: To evaluate patients' and neonatologists' satisfaction with virtual prenatal consultations in the context of the COVID-19 pandemic and to compare satisfaction levels of patients receiving virtual consultation with those receiving in-person consults.Methods: This cross-sectional study evaluated patients' and neonatologists' satisfaction with virtual consultations. Participants included pregnant women with diagnosis of fetal anomalies who received neonatology prenatal consultations at Oklahoma Children's Hospital, either in-person or through telemedicine, from May to mid-November 2020, and neonatologists providing virtual prenatal consultations in the same period. Virtual visits were delivered via Zoom Pro™. Patients and physicians who agreed to participate rated acceptability completing an anonymous 5-point Likert scale survey. Item frequencies and means for categories of items were computed by group (video-consult patients, in-person patients, physicians) and analyzed, using Welch's t for unequal sample size.Results: Overall consultation quality was rated good or excellent by 35 (100%) video-consult patients and 12 (100%) in-person patients. Patient group means computed on six 5-point Likert items about patient-physician communication did not differ significantly, video-consult: M = 28.71 (2.22); in-person consult: M = 28.92 (1.78) (p = 0.753263). All eight physicians (100%) agreed or strongly agreed that telemedicine was effective, using a 5-point Likert scale, and their combined consultation quality score computed on 10 survey questions was high: M = 46.4 (3.11).Conclusion: Despite patient inexperience with tele-consultations, the quick implementation of telemedicine, and the sensitive reason for the visit, patients and physicians were highly satisfied with virtual visits. Telemedicine is a safe, effective alternative for providing neonatology prenatal consultations for pregnant women with diagnosis of fetal anomalies during the pandemic.