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California uses a unique method to screen newborns for cystic fibrosis (CF) that includes gene scanning and DNA sequencing after only one California-40 cystic fibrosis transmembrane conductance regulator (CFTR) panel mutation has been identified in hypertrypsinogenemic specimens. Newborns found by sequencing to have one or more additional mutations or variants (including novel variants) in the CFTR gene are systematically followed, allowing for prospective assessment of the pathogenic potential of these variants. During the first 3 years of screening, 55 novel variants were identified. Six of these novel variants were discovered in five screen-negative participants and three were identified in multiple unrelated participants. Ten novel variants (c.2554_2555insT, p.F1107L, c.-152G>C, p.L323P, p.L32M, c.2883_2886dupGTCA, c.2349_2350insT, p.K114del, c.-602A>T, and c.2822delT) were associated with a CF phenotype (42% of participants were diagnosed at 4 to 25 months of age), whereas 26 were associated with CFTR-related metabolic syndrome to date. Associations with the remaining novel variants were confounded by the presence of other diseases or other mutations in cis or by inadequate follow-up. These findings have implications for how CF newborn screening and follow-up is conducted and will help guide which genotypes should, and which should not, be considered screen positive for CF in California and elsewhere.

Introduction Multiple studies have demonstrated the effectiveness of auto-titrating continuous positive airway pressure (auto CPAP) in the adult population, but there is limited literature on the use of auto CPAP in the pediatric population. Specifically, the use of auto CPAP in children with neurological disorder(s) has not been established. Thus, we conducted a study to review the use of auto CPAP in children ages 18 years old and younger with Obstructive Sleep Apnea Syndrome (OSAS) and associated neurological disorder to document its effectiveness, adverse events and outcomes of its use. Methods A retrospective chart review was performed on patients 18 yo and younger diagnosed with OSAS and associated neurological disorder(s) who have good compliance with auto CPAP use. Good compliance was defined as >4 hours/night and >20/30 days of auto CPAP use. Compliance from the most recent 30 days was downloaded. Results 5 children met our criteria for inclusion, with a mean age of 11 years (6-18 years old). All had initial baseline sleep studies performed without PAP titration polysomnography. Associated neurological disorders were cerebral palsy, Arnold Chiari Malformation, seizure disorder and intellectual disability. The average length of use of auto CPAP was 4 months. Auto CPAP was used on average of 24/30 nights, with a mean of 7.35 hours/night. The mean baseline obstructive apnea-hypopnea (OAHI) index was 42 (8.2-94.4). The mean AHI on a 30 day download report showed a mean decrease in AHI to 2.9 (0.5-5.2) while on auto CPAP. Review of patient charts did not reveal any adverse outcomes associated with the use of auto CPAP in these patients. Conclusion This study showed that auto CPAP significantly improved the AHI in pediatric patients treated for OSA with associated neurological disorder. There were no reported adverse outcomes. Further research is needed to establish the effectiveness and safety of auto CPAP use in the pediatric population, specifically those with neurological disorder. The use of auto CPAP will help decrease the wait time for treatment in children with OSA. These patients can use auto CPAP while waiting for a titration study and for long term use. Support none