Esophageal atresia/tracheoesophageal fistula and proximal symphalangism in a patient with a NOG nonsense mutation.

Esophageal atresia and tracheoesophageal fistula (EA/TEF) are relatively common malformations of the human foregut. The etiology remains incompletely understood with genetic causes identified in a small minority of affected patients. We present the case of a newborn with type C EA/TEF along with proximal symphalangism found to have a de novo NOG nonsense mutation. Patients with chromosome 17q deletions including the NOG gene have previously been reported to have EA/TEF but mutations in the gene have not been identified in patients with this malformation. This case provides evidence that haploinsufficiency for NOG may be the cause for EA/TEF in the 17q deletion syndrome and suggests that the clinical spectrum of NOG-related symphalangism spectrum disorders may include EA/TEF.

Military HealthySteps Pilot Program Outcome Study.

INTRODUCTION: Military families face many unique challenges, including frequent separations, demanding work hours, and relocations. The HealthySteps (HS) program may offset these challenges utilizing the expertise of a nonclinical child development specialist called a HS specialist who offers enhanced well-child visits (WCVs), support between visits, and connections to community resources. Our study sought to identify the impact of the military HS pilot program on the timeliness of WCVs, immunizations, routine behavioral and developmental screenings, and referrals to community resources within the first 15 months of life (MOL). MATERIALS AND METHODS: We retrospectively reviewed charts of 26 HS-enrolled and 26 randomly selected age-matched non-HS-enrolled children from age 2 to 15 MOL. Demographic variables obtained include child's gender, child's birth order, mother's age, active duty parent's rank classification, and active duty parent's gender. We examined five outcomes measures aligning with the American Academy of Pediatrics health supervision, immunization, and screening recommendations and National Committee for Quality Assurance Healthcare Effectiveness Data and Information Set measures: (1) completed six or more WCVs in the first 15 MOL, (2) completed developmental screening at the 9-month WCV, (3) up to date on vaccinations at 15 MOL, (4) completed three or more postpartum depression (PPD) screens in the first 6 MOL, and (5) the total number of documented referrals to community resources within the first 15 MOL. Chi-square analysis and independent t-tests were used to compare the groups. RESULTS: There was no statistical significance (P > .05) between the HS-enrolled and control groups for all five demographic variables. A significantly higher percentage of children in the HS-enrolled group received PPD screening compared to the control group (96% vs. 73.1%, P = .021). The HS-enrolled group had a higher mean number of community resource referrals at 15 MOL of 2.46 (SD = 1.14) vs. the control group with a mean of 0.19 (SD = 0.49). None of the other outcomes showed a statistically significant difference between groups. CONCLUSIONS: The results of this study indicate the positive impacts of the military HS program on referrals to community resources and PPD screening, reflecting the HS specialist focus on the family unit. Limitations of this study include the small population size and limited demographic information resulting from the retrospective nature of the study and pilot status of the HS program. Larger prospective studies are needed to clarify the true impact of the HS program in the military health system.

A proposed pediatric risk stratification method (PRiSM) for disaster preparedness.

OBJECTIVE: Children are a uniquely vulnerable population in times of disaster. Understanding the risk associated with the pediatric population is complex and involves aspects beyond just the medical needs of children. DESIGN: We reviewed current literature in two databases regarding risk and disaster preparedness in children to assess current risk stratification methodologies across multiple domains including medical, social, and educational. RESULTS: No comprehensive risk stratification tool exists that considers multiple domains. Three key domains are inter-related to a child's vulnerability in times of disaster; medical, educational, and social. We propose a pediatric risk stratification method (PRiSM) for disaster preparedness as one way to consider the three critical domains. Using existing medical, educational, and social data, our proposed framework considers all three domains to stratify children by their degree of risk in terms of disaster preparedness. PRiSM consists of a three-digit alphanumeric guide to stratify patients based on complex medical, educational, and social needs. CONCLUSION: This framework provides a possible method to risk stratify children prior to a disaster to better inform planning and responses in the future.