Olson, Janelle

Abstract Objective This study aims to describe the experience of implementing a psychosocial distress screening system for children with serious or chronic medical conditions. Methods Achieving RoutIne Screening for Emotional health (ARISE) was developed to systematically evaluate psychosocial distress in children with serious medical or chronic medical illnesses, by integrating patient-reported outcome measures (PROM) into care delivery. ARISE was developed using a user-centered approach with extensive input from patients, families, and healthcare professionals to overcome barriers to routine PROM collection and integration into care as usual. It comprises a system to capture PROMs and then relay results to clinicians for changing care. We sought to implement ARISE at four subspecialty pediatric clinics caring for patients with cystic fibrosis, sickle cell disease, hemophilia, and neurological malignancy. Results Problems with acceptability, appropriateness, and feasibility represented barriers to implementation which were overcome by modifying the intervention using stakeholder input during the planning phase, leading to broad program acceptance. ARISE was implemented in three of the four clinics, in which 79.8% of eligible children and their family completed PROMs. Conclusion The ARISE program demonstrated the feasibility and effectiveness of integrating psychosocial screenings into subspecialty pediatric clinics, thereby enhancing the identification and management of psychosocial issues in children with serious and chronic medical illnesses.

Introduction: Oral glucose tolerance testing is recommended for all children with CF older than 9 years, yet compliance remains poor across centers. Methods: We performed a small pilot study assessing the glycemic curves and participant satisfaction in seven children and adolescents. Results: We chose a dextrose-based candy (Nerds®) free of any fat, fiber, gelatin, or corn syrup and performed the candy OGTT 1–4 days following the standard oral dextrose solution OGTT. Glucose values at 120 min were similar between the candy and oral dextrose solution (p = 0.8986). Conclusions: Our small pilot suggests that a carefully selected candy alternative may result in similar glycemic OGTT when compared to the standard oral dextrose solution. However, some participants preferred the oral dextrose solution to candy due to having to consume a large volume in a short period of time. This may have significant implications as centers consider candy alternatives to increase OGTT adherence rates.

AbstractBackgroundMT‐RNR1 variants are a well‐known cause of aminoglycoside‐induced hearing loss (AIHL). Individuals with cystic fibrosis (CF) routinely receive aminoglycosides and are at high risk of AIHL. However, genetic testing before treatment is not routinely performed due to perceived rarity of risk, and cost ineffectiveness with traditional technologies.AimAssess the utility of large‐scale screening for AIHL risk in the CF population, using digital droplet polymerase chain reaction (ddPCR), a novel and scalable low‐cost molecular technique.MethodsUsing a clinically validated ddPCR assay, we performed retrospective testing on 122 and prospective testing on 32 individuals with CF for the two most common pathogenic variants associated with AIHL, MT‐RNR1 m.1555 A > G and m.1494 C > T. Our study screened the largest known cohort of pediatric cases of CF (94/154) for these specific alterations.ResultsWe identified two individuals positive for MT‐RNR1 m.1555 A > G and no positives for m.1494 C > T. Of 32 prospective cases, 17 had aminoglycoside exposure. The positive case in our prospective group recently began inhaled tobramycin and denied hearing issues. The clinician adjusted to care for both the patient and sibling with CF (not included in cohort) who is presumed positive for m.1555 A > G due to the nature of mitochondrial inheritance.ConclusionOur findings demonstrate the utility of pretreatment screening in the cystic fibrosis population for AIHL risk using ddPCR, a scalable and robust testing methodology at a fraction of the cost as compared to other sequencing‐based methods. Therefore, the use of large‐scale screening for AIHL risk in the cystic fibrosis community should be re‐visited.