P365: Sleep-disordered breathing in neonatal PURA syndrome

Genetics in Medicine Open 2026 Open access

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Authors: Ben Cocanougher, Olivia D'Annibale, Robert James Hopkin, Jacquelynn Berton, Spencer Katz, Olivia Mirabella
DOI: 10.1016/j.gimo.2026.103859
Cited by: 0

Abstract

Supplemental oxygen was continued throughout hospitalization. Based on initial sleep study findings, tracheostomy was recommended but ultimately deferred in favor of conservative management. Pharmacological interventions included caffeine (20 mg/kg daily, starting DOL 31) to reduce apnea frequency and oral albuterol (0.1 mg TID, starting DOL 59) to target the neuromuscular junction component of weakness.

Fields of Study & Subjects

Neuroscience of respiration and sleep Obstructive Sleep Apnea Research Genomics and Rare Diseases

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
103859–103859
Publication date
1 January 2026
Language
EN