International journal of pediatric otorhinolaryngology最新文献

Purpose: This study aimed to evaluate the incidence of tracheal cartilaginous sleeve (TCS) among syndromic craniosynostosis patients, as well as describe their genetic profiles, associated co-morbidities, and operative outcomes.

Methods: We performed a retrospective analysis of syndromic craniosynostosis patients (Apert, Crouzon, and Pfeiffer) at a single tertiary academic center between January 1, 2002, and February 1, 2024.

Results: 39 patients with syndromic craniosynostosis were identified, with 17 patients (17/39, 43.6%) undergoing airway evaluation. 1 patient (1/17, 5.9%) was diagnosed with TCS, but 5 patients (5/17, 29.4%) had other airway abnormalities, all reflecting abnormalities of the airway wall or some type of airway stenosis. 28 patients (28/39, 73.7%) presented with a diagnosis of OSA, and 7 patients (7/39, 17.9%) of patients presented with choanal anomaly (atresia or stenosis). 32 patients (32/39, 82.1%) had genetic sequencing information available, with the most common mutations affecting p.P253R within the FGFR2 gene in 7 patients. No patients in our cohort presented with a p.W290 mutation and 7 patients presented with a p.C342 mutation, of which 4 patients had the p.C342Y mutation.

Conclusion: The true prevalence of TCS may be likely lower than prior reports, which may aid with alleviating some familial anxiety and provide additional context and data for medical counseling and decision-making. Nonetheless, all patients should be strongly recommended to undergo airway evaluation given the risks associated with TCS, the high prevalence of structural airway anomalies, and the overall low risk of airway evaluation.

Introduction: Depending on the habits of the implanting center, the time interval between the surgical procedure and the activation of a cochlear implant varies greatly. Traditionally, the activation occurs several weeks after surgery, particularly in pediatric population. If recent improvements have concern surgical procedures and peri-operative care, early fitting constitutes the next optimization in cochlear implant management; for the past 5 years, we have introduced early fitting with Day 1 activation in the Robert Debré pediatric hospital. This study aims to evaluate the satisfaction of parents regarding early activation of their child's cochlear implant.

Materials and methods: Pediatric patients who underwent an early activation of their cochlear implant between 2021 and 2024 in Robert Debré Hospital were included in the study. A satisfaction questionnaire was handed out to the parents and collected. The questionnaire encompassed informations received before implantation and during the hospital stay, and their feelings regarding early activation, and after hospital discharge.

Results: 68 parents of patients completed the questionnaire: 73.5 % were activated on day 1 of surgery. 60.3 % considered that early activation has not been painful for their child. 53 % of the parents identified a reaction to an auditory stimulus in their child during activation. 44 % were satisfied with the clinical pharmacologist's visit. 92.3 % were satisfied with the early activation procedure, and 97 % with returning home with an activated cochlear implant. They felt well informed before and after the surgery. No major complication was reported amongst our patients.

Conclusion: Parents are satisfied with their child's early activation of the cochlear implant and felt relieved to go home with an activated processor and early data on the proper functioning of the implant.