Newborn screening for Duchenne muscular dystrophy: A two-year pilot study.

OBJECTIVE: Duchenne muscular dystrophy (DMD) is an X-linked disorder resulting in progressive muscle weakness and atrophy, cardiomyopathy, and in late stages, cardiorespiratory impairment, and death. As treatments for DMD have expanded, a DMD newborn screening (NBS) pilot study was conducted in New York State to evaluate the feasibility and benefit of NBS for DMD and to provide an early pre-symptomatic diagnosis. METHODS: At participating hospitals, newborns were recruited to the pilot study, and consent was obtained to screen the newborn for DMD. The first-tier screen measured creatine kinase-MM (CK-MM) in dried blood spot specimens submitted for routine NBS. Newborns with elevated CK-MM were referred for genetic counseling and genetic testing. The latter included deletion/duplication analysis and next-generation sequencing (NGS) of the DMD gene followed by NGS for a panel of neuromuscular conditions if no pathogenic variants were detected in the DMD gene. RESULTS: In the two-year pilot study, 36,781 newborns were screened with CK-MM. Forty-two newborns (25 male and 17 female) were screen positive and referred for genetic testing. Deletions or duplications in the DMD gene were detected in four male infants consistent with DMD or Becker muscular dystrophy. One female DMD carrier was identified. INTERPRETATION: This study demonstrated that the state NBS program infrastructure and screening technologies we used are feasible to perform NBS for DMD. With an increasing number of treatment options, the clinical utility of early identification for affected newborns and their families lends support for NBS for this severe disease.

Impact of early-onset sepsis guidelines on breastfeeding.

OBJECTIVE: To evaluate the impact of changes to neonatal early-onset sepsis (EOS) guidelines on in-hospital breastfeeding. STUDY DESIGN: Asymptomatic neonates admitted to the Neonatal Intensive Care Unit (NICU) for sepsis evaluations over a 2-year period were identified. A retrospective chart review was conducted as part of a larger quality initiative on antibiotic stewardship. RESULT: In Epoch 1, Epoch 2, and Epoch 3, there were 268 babies, 138 babies and 138 babies admitted to the NICU based on sepsis protocol, respectively. When comparing Epoch 1 to Epoch 3, there was a 14% increase in total breast milk consumption rates (p < 0.0001) and a 15% increase in exclusive breastfeeding at discharge (p < 0.002). CONCLUSION: By implementing new EOS protocols, we have decreased NICU length of stay. We suggest that the decrease in mother-infant separation time leads to an improvement in breastfeeding.

Improving Antibiotic Stewardship among Asymptomatic Newborns Using the Early-onset Sepsis Risk Calculator.

INTRODUCTION: Neonatologists have long struggled with identifying and treating early-onset sepsis (EOS) without overexposing newborns to unnecessary antibiotics. METHODS: In January 2016, we instituted an EOS protocol based mainly on the 2012 AAP guidelines. We subsequently conducted 2 additional plan-do-study-act cycles to decrease antibiotic usage by integrating the EOS risk calculator into our algorithm. For the periods January 2016-June 2017 (period 1), June 2017-February 2018 (period 2), and February 2018-December 2018 (period 3), we tracked all asymptomatic newborns older than 36 weeks, including those admitted to the neonatal intensive care unit for evaluation of EOS. We monitored the monthly variation in asymptomatic newborns older than 36 weeks who received antibiotics using statistical process control. The number of asymptomatic infants treated with antibiotics during the 3 periods was analyzed. Pairwise comparisons were made using post hoc chi-square analysis. RESULTS: The addition of the EOS calculator score to our guidelines reduced the number of asymptomatic infants older than 36 weeks treated with antibiotics by 73% (P < 0.0001). Adopting the EOS calculator score after clinical examination further reduced the number of infants treated by 89% (P < 0.0001). For period 1, the percentage of asymptomatic infants older than 36 weeks treated with antibiotics was 4.3%; for period 2, it was 1.16%, and for period 3, it was 0.12% (P < 0.0001). CONCLUSIONS: The addition of the EOS calculator score to our AAP-based guidelines reduced antibiotic use among asymptomatic infants older than 36 weeks by 73%. Further adoption of the EOS calculator score after the clinical examination enabled our team to defer antibiotics in almost all asymptomatic infants safely.

Improving communication with parents: the Neonatal Intensive Care Unit Empathy Workshop.

OBJECTIVE: To implement an "Empathy Workshop" focused on improving Neonatal Intensive Care Unit (NICU) health care provider communication skills. METHODS: Staff-led, small group "Empathy Workshops" were conducted over a 2 year period. NICU parents answered a section of the "Picker Institute Parent Experiences of Neonatal Care Survey" in the pre- and post-intervention periods. NICU health care providers completed the "NICU Provider Communication Skills Self-Assessment" at three time points. RESULTS: Parent survey scores significantly improved in two questions: referring to child by first name (p = 0.02) and being offered emotional support from the staff (p = 0.03) or information on parent support groups (p = 0.03). Fifty-seven NICU providers completed all three self-assessments. Following the workshop, providers were significantly more comfortable with daily communication, discussing end of life issues, managing anxiety around difficult conversations, and handling a combative situation. CONCLUSIONS: The "Empathy Workshop" successfully enhanced NICU provider communication skills, thereby improving emotional support demonstrated to NICU parents.