Aerodigestive / ENT
CHARGE syndrome is a rare genetic disorder caused by a CHD7 mutation on chromosome 8. The acronym represents coloboma, heart defects, atresia of the choana, retardation of growth and development, genital and/or urinary anomalies, and ear malformations. Diagnosis can be established based on clinical criteria even without confirmed CHD7 mutation testing. Notably, 80–90% of children with CHARGE syndrome will experience aspiration at some point in their lifetime, making it a significant functional/neurological cause of aspiration risk in the pediatric population.
Tracheopexy is indicated for patients with tracheomalacia who require surgical intervention. Clinical decision-making has evolved to determine which patients will respond best to tracheopexy versus aortopexy using preoperative dynamic studies. The procedure is primarily used in non-esophageal atresia patients. Both aortopexy and tracheopexy are beneficial for tracheomalacia; preoperative dynamic imaging guides selection of the most appropriate procedure for each patient.
- Infants with vomiting/wheezing more often have oropharyngeal dysphagia than GERD; PPIs are ineffective and harmful under age 1. [e289-c1, e289-c3, e289-c5, e359-c1, e359-c3, e359-c5]
- 10% of children <5 with respiratory symptoms have EoE (chronic cough, not dysphagia); never wrap without scoping. Dairy is the allergen in 60–70%. [e289-c6, e289-c7, e289-c8, e289-c9, e359-c6, e359-c7, e359-c9, e359-c11]
- Flexible bronchoscopy misses laryngeal clefts 95% of the time; rigid bronchoscopy with probing of the posterior commissure is required. [e739-c26]
- TEF patients need lifelong surveillance: presumed tracheomalacia, ≥3 endoscopies (post-PPI, pre-10, transition), and awareness that 67% have histopathologic airway changes. [e5969-c13, e5969-c14, e5969-c20]
- Button batteries at the aortic arch cause delayed aortoesophageal fistula (sentinel bleed >2 weeks post-removal); high-risk: age <5, diameter ≥20mm. [e7997-c21, e7997-c22, e7997-c23, e8088-c17]
When children have trouble breathing, swallowing, or feeding, doctors from different specialties work together to figure out what's wrong and how to help. This area of medicine is called aerodigestive care, and it focuses on the connected systems that let us breathe and eat [e5976-c16, e5388-c2]. Many children are born with conditions affecting these systems. Some babies are born with their food pipe (esophagus) not properly connected, a condition called esophageal atresia [e5976-c1, e5976-c2]. Others may have an opening between the breathing tube and food pipe, called a fistula, which can let food or liquid go into the lungs . The windpipe itself can be soft or floppy (tracheomalacia), making breathing difficult [e10201-c9, e10435-c1]. Doctors have found that many of these problems occur together, so a child with one issue often has others [e10201-c9, e5976-c6]. Physicians now understand that families benefit most when all the specialists—ear-nose-throat doctors, lung doctors, stomach doctors, feeding therapists, and surgeons—see the child together in one visit rather than separately [e6062-c19, e5976-c20]. This coordinated approach means fewer appointments, less time under anesthesia for tests, and faster answers [e5976-c21, e5976-c22]. Treatment might include surgery to repair structural problems, therapy to help with swallowing, medications to reduce inflammation, or breathing support [e10201-c25, e10201-c26]. The goal is always to help children breathe safely, eat comfortably, and grow well .