Search

Spinal muscular atrophy (SMA) is a genetic disorder that may result in neuromuscular weakness and respiratory insufficiency. Gene replacement therapy has changed the trajectory of this condition, but long-term outcomes related to sleep disordered breathing are not known. This was a retrospective review of infants with SMA identified via newborn screening who subsequently received onasemnogene abeparvovec at the Hospital for Sick Children (Ontario, Canada). Polysomnograms were conducted at the time of confirmed diagnosis as well as regularly thereafter. Eleven children (4 female) were identified via newborn screen (7 with 2 copies of the SMN2 gene and 4 with 3 copies of the SMN2 gene) and received onasemnogene abeparvovec at a median age of 3.6 weeks. All eleven infants met criteria for sleep disordered breathing based on their first completed polysomnograms but improved over time. Three infants required respiratory technology, including a premature infant who was prescribed nocturnal supplemental oxygen therapy for central sleep apnea and two symptomatic infants with neuromuscular weakness who required nocturnal noninvasive ventilation. We did not find a correlation between motor scores and polysomnogram parameters. Children treated with onasemnogene abeparvovec have reduced sleep disordered breathing over time. Polysomnograms revealed abnormal parameters in all children, but the clinical significance of these findings was unclear for children who were asymptomatic for sleep disordered breathing or neuromuscular weakness. These results highlight the need to evaluate both motor scores and respiratory symptoms to ensure a holistic evaluation of clinical status. • Spinal muscular atrophy may result in weakness and respiratory insufficiency. • The long-term outcomes related to sleep disordered breathing following gene replacement therapy are unknown. • Infants who received onasemnogene abeparvovec have reduced sleep disordered breathing over time. • Screening polysomnograms may be unnecessary in the first year of life for asymptomatic children. [ABSTRACT FROM AUTHOR]

Context: Children and adults with advanced cardiac or respiratory disease may benefit from specialized palliative care (SPC), but there has been little SPC research in this area.Objectives: To explore pediatric cardiologists' and respirologists' (pediatric clinicians) beliefs about and referral practices to SPC and compare these results to adult cardiologists and respirologists (adult clinicians).Methods: Pediatric and adult clinicians were sent a survey exploring SPC referral practices and beliefs. Responses were summarized with descriptive statistics. Pediatric and adult clinicians' responses were compared using Pearson's chi-square test.Results: The response rate was 56% (989/1759); 9% (87/989) were pediatric clinicians. Pediatric clinicians were more likely than adult clinicians to be female, work in an academic center, and experience fewer patient deaths (P<0.001). Pediatric clinicians reported better access to SPC clinical nurse specialists, spiritual care specialists and bereavement counselors (P<0.001), while adult clinicians reported better access to palliative care units (P<0.001). Pediatric clinicians referred to SPC earlier, while adult clinicians tended to refer after disease directed therapies were stopped (P<0.001). More than half of all clinicians felt patients had negative perceptions of the phrase "palliative care". Although most clinicians were satisfied with SPC quality (73-82%), fewer adult clinicians were satisfied with SPC availability (74 vs. 47%; P<0.001). Fewer pediatric clinicians felt that SPC prioritized oncology patients (13 vs. 53%; P<0.001).Conclusion: There are important differences between pediatric and adult clinicians' beliefs about and referral practices to SPC. This may reflect unique features of pediatric diseases, provider characteristics, care philosophies, or service availability. [ABSTRACT FROM AUTHOR]

Adenotonsillectomy (AT) is common in children with trisomy 21 but outcomes are variable. Therefore, practitioners must have accurate information regarding the risks of the procedure specific to trisomy 21 to help patients weigh the risks and benefits of surgery. The objective of this study was to better characterize morbidity and mortality risk factors from AT in children with trisomy 21. A single-center retrospective chart review of children with trisomy 21 who underwent AT was conducted from 1992 to 2019. The primary outcome was 30-day post-operative complication rate. Secondary outcomes included intraoperative complications, admission duration, emergency department visits, readmissions, reoperation rate and treatment failures. Two-hundred and fifty one children met study criteria (median age 4.5 years). Seventy-eight patients (31.5%) had a post-operative complication requiring medical intervention, with respiratory issues (42, 53.8%), poor oral intake (29, 37.2%), and bleeding (14, 17.9%) being most common. Postoperatively, 72 patients (28.7%) had a prolonged hospital stay. Sleep disordered breathing (p = 0.003), ASA score >2 (p < 0.001), severe OSA (p = 0.003), preoperative ICU admission (p < 0.001), and aerodigestive comorbidities (p = 0.004) were associated with increased post-operative respiratory complications. No mortalities were identified. This large single institution study evaluating morbidity and mortality following AT in children with trisomy 21 identified a morbidity rate of 31.5%. These findings may improve our ability to anticipate and manage postoperative morbidity in this vulnerable population and facilitate informed discussions with patients and caregivers considering AT. [ABSTRACT FROM AUTHOR]