760 - Management and outcomes of neonates with Treacher Collins and Nager syndromes

Publication Number: 760.5906

Tara L. Wenger, Seattle Children's Hospital, Lake Tapps, WA, United States; K. Taylor Wild, Children's Hospital of Philadelphia, Philadelphia, PA, United States; Isabella Zaniletti, IZ Statistics LLC, Tampa, FL, United States; Elaine H. Zackai, Children's Hospital of Philadelphia, Philadelphia, PA, United States; Janet Lioy, Childrens Hospital of Philadelphia, Newtown, PA, United States; Cory M. Resnick, Boston Children's Hospital, Boston, MA, United States; Bimal P. Chaudhari, Nationwide Children's Hospital, Columbus, OH, United States; S. Alex Rottgers, Johns Hopkins All Children's Hospital, St Petersburg, FL, United States; Jeffrey Goldstein, Children's Mercy Hospitals and Clinics, KANSAS CITY, MO, United States; Irfan Ahmad, CHOC Children's Hospital of Orange County, Tustin, CA, United States; Carl H. Coghill, UAB, Birmingham, AL, United States; Semsa Gogcu, Women & Infants Hospital of Rhode Island, Providence, RI, United States; Kuan-Chi Lai, Children's Hospital Los Angeles, Los Angeles, CA, United States; Christopher Cielo, Children's Hospital of Philadelphia, Philadelphia, PA, United States; Michael A. Padula, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, United States

Background: Infants with mandibulofacial dysostosis syndromes have a high rate of admission to neonatal intensive care units (NICUs) due to tongue based airway obstruction and feeding difficulties. Treacher Collins and Nager syndromes are mandibulofacial dysostosis syndromes that are recognizable in the neonatal period and have a high rate of admission to NICUs. Due to the low incidence of TCS and Nager syndrome there is a paucity of literature on the typical clinical course in the NICU and how their clinical course diverges from infants with micrognathia from other causes. The Children's Hospitals Neonatal Consortium is a large consortium Level IV NICU's across North America that inputs standardized data into a national database with a goal to optimize clinical care and outcomes for infants receiving intensive care. In this study we utilized the CHNC database to compare management and outcomes in Treacher Collins, Nager syndromes with micrognathia from other causes.

Objective: To compare management and outcomes of infants with mandibulofacial dysostosis syndromes (Treacher Collins and Nager syndromes) admitted to neonatal intensive care units (NICUs) to infants with other causes of micrognathia.

Design/Methods: The Children’s Hospitals Neonatal Database from 2010-2023 was queried for infants with diagnoses of Treacher Collins syndrome [TCS] n=103, and Nager syndrome n=11. These infants were compared with the larger cohort of infants with micrognathia (n=4,210) receiving intensive care.

Results: Compared to the micrognathia cohort, infants with TCS were more likely to undergo tracheostomy (54.4% vs. 10.1%) and gastrostomy tube placement (67.0% vs. 33.0%) and were less likely to undergo mandibular distraction (9.7% vs. 26.4%). The mortality rate in TCS was lower than micrognathia cohort (1.9% vs. 6.5%). Apgar scores were similar for TCS and micrognathia cohorts (6, 8; 7, 9) but lower for Nager (1.5; 6). Infants with Nager syndrome had the highest rate of intubation at birth (91%) and tracheostomy placement (72.7%), and a higher mortality rate than TCS (27.0% vs. 1.9%). Hospital length of stay was longer in TCS (47.5 days) and Nager (43.0 days) syndromes than the micrognathia cohort (37.0 days).

Conclusion(s): Infants with mandibulofacial dysostosis (TCS and Nager syndromes) were more likely to have a tracheostomy and gastrostomy tube, and less likely to undergo mandibular distraction than infants with micrognathia from other causes. Nager syndrome was most severe with highest mortality rate and lowest Apgar scores. Despite a higher rate of tracheostomy and longer length of stay, the mortality rate for TCS remained low.

Figure 1
Treacher Collins figure 1.pdfFigure 1. Major interventions and outcomes. There was a significantly higher rate of tracheostomy and gastrostomy placement in Treacher Collins syndrome (n=103) compared to micrognathia from other causes (n=4,210). There was a lower rate of mandibular distraction and in-hospital mortality in Treacher Collins. Formal comparisons were not made between Nager and other groups due to low sample size (n=11).

Table 1
Treacher Collins Table 1.pdfTable 1: Demographics. Results are n (%) or median (interquartile range)

Table 2
Treacher Collins Table 2.pdfTable 2: Key outcomes. Values are in n (%) unless otherwise stated.* For infants who survived and where full discharge data were available. TC n=86; Nager n=6; CHNC micrognathia cohort n=3,463.