ORIGINAL ARTICLE Diagnosis and Therapy for Airway Obstruction in Children With Down Syndrome Ron B. Mitchell, MD; Ellen Call, MS, CFNP; James Kelly, PhD Objectives: To document the causes of upper airway children had subglottic stenosis. Laryngomalacia was the obstruction in a population of children with Down syn- primary diagnosis in 10 children (43%), 8 of whom were drome and to highlight the role of associated comorbidi- younger than 1 month. Obstructive sleep apnea was the ties. primary diagnosis in 11 children (48%), 8 of whom were older than 2 years. All children with obstructive sleep ap- Design and Setting: Review of 23 cases involving chil- nea and 4 children with laryngomalacia had a second- dren with Down syndrome who were referred for upper ary ear, nose, and throat disorder. Gastroesophageal re- airway obstruction over a 21⁄2-year period to the Pediat- flux was a comorbidity in 14 children (61%). ric Otolaryngology Service of the University of New Mexico, Albuquerque. Conclusions: The causes, severity, and presentation of upper airway obstruction in children with Down syn- Methods: Data on the following variables were ob- drome are related to the age of the child and to associ- tained: reason for referral, demographics, diagnosis, sur- ated comorbidities. The treatment of comorbidities and gical procedures, complications, and comorbidities. secondary ear, nose, and throat disorders is an integral component of the surgical management of upper airway Results: The children ranged in age from 1 day to 10.2 obstruction in such cases. years (mean age, 1.8 years; median age, 6 months). Thir- teen children were male and 10 were female. None of the Arch Otolaryngol Head Neck Surg. 2003;129:642-645 HE INTERPLAY between oto- METHODS laryngologic disease and systemic comorbidities in A retrospective review of cases involving chil- children with Down syn- dren with Down syndrome who were referred drome has been discussed for upper airway obstruction to the Pediatric Tin a recent report.1 However, there are few Otolaryngology Service at the University of New reports that have specifically addressed up- Mexico Health Sciences Center, Albuquer- per airway obstruction and associated co- que, was undertaken. Approval (Human Re- morbidities in these children.2 Children search Review Committee Approval No. 01- with Down syndrome have midface hy- 301) was obtained from the institutional review poplasia, macroglossia, a narrow naso- board of the University of New Mexico School 3-5 of Medicine. All pediatric surgical procedures pharynx, and a shortened palate. These and inpatient consultations between July 1, anatomical abnormalities along with gen- 1999, and December 31, 2001, were entered eralized hypotonia, an immature im- into a spreadsheet (Excel; Microsoft Corp, Red- mune system, and a tendency to obesity mond, Wash). Children with Down syn- predispose children with Down syn- drome were identified from this database, and drome to upper airway obstruction. Fur- those with a primary diagnosis of upper air- thermore, gastroesophageal reflux dis- way obstruction were included in the study. Pri- ease (GERD)6 and chronic lung disease7 mary otolaryngologic diagnosis was defined as From the Departments of are also common in these children and may the primary disorder underlying the reason for Surgery (Drs Mitchell, Call, worsen airway problems. referral. Secondary otolaryngologic diagnosis and Kelly) and Pediatrics was defined as a disorder that was revealed by (Dr Mitchell), University of Our goal is to describe the causes of history and physical examination in addition New Mexico Health Sciences upper airway obstruction in a population of to the primary disorder. A single surgeon Center, Albuquerque. The children with Down syndrome, the surgi- (R.B.M.) was responsible for all otolaryngo- authors have no relevant cal therapy used to treat this obstruction, logic procedures performed on children in the financial interest in this article. and the role of associated comorbidities. study population. The following parameters (REPRINTED) ARCH OTOLARYNGOL HEAD NECK SURG/ VOL 129, JUNE 2003 WWW.ARCHOTO.COM 642 ©2003 American Medical Association. All rights reserved. Downloaded From: https://jamanetwork.com/ on 10/01/2021 were obtained from the medical records of children included in the study: gestational age; birth weight; reason for referral; Table 1. Primary and Secondary Diagnoses for Children number and types of previous surgical procedures; complica- With Down Syndrome Presenting With Upper Airway tions; presence and nature of cardiac disease; and presence of Obstruction other comorbidities, such as GERD and chronic lung disease. The diagnosis of GERD was based on the results of a radio- Secondary logic contrast study and clinical findings. Reflux was identified Primary Diagnosis No. Diagnosis No. by the presence of contrast medium above the lower esophageal Obstructive sleep apnea 11 Ear canal atresia 2 sphincter. In children younger than 6 months, 3 or more epi- Laryngomalacia 10 Chronic sinusitis 1 sodes of reflux were considered a positive finding. In children Tracheomalacia 1 Laryngomalacia 1 older than 6 months, a positive finding was 1 or more episodes Inhaled foreign body 1 Recurrent otitis media 11 of reflux. The severity was defined according to the following Recurrent tonsillitis 1 classification: mild, the presence of contrast medium confined Vocal cord palsy 1 to the lower third of the esophagus; moderate, up to the middle third of the esophagus; and severe, up to the level of the crico- pharyngeus muscle, with dilatation of the esophagus. The clini- cal findings relevant to GERD included the number of respira- tory tract infections, posturing, weight loss, and failure to thrive. laryngomalacia, 3 had obstructive sleep apnea, and 1 had A total of 23 children were included in the study. Ethnic- tracheomalacia. All 11 children who had a diagnosis of ity was classified as Hispanic or Latino, Caucasian, African obstructive sleep apnea underwent full-night polysom- American, Native American, Asian, or other. The gestational nography (Table 2). age of the infant at birth was recorded as follows: term, 40 ±2 Eight children underwent bronchoscopy (Table 2). weeks (mean±SE); nonterm, younger than 38 weeks; or un- Four of these children had laryngomalacia and episodes known. Both diagnostic and therapeutic surgical interven- of cyanosis. Two children had obstructive sleep apnea tions were recorded. Comorbidities were recorded to include and stridor. One child with stridor had no evidence of the nature of comorbidity, surgical intervention, and out- laryngomalacia but had tracheomalacia diagnosed on come. Therefore, a total of 55 fields were maintained for each child. A unique identifier was used for each record so that medi- bronchoscopy. One child underwent bronchoscopy to cal record numbers and names of patients could be deleted from remove a foreign body. Nine children had obstructive the database to protect the privacy of the patients. sleep apnea and no evidence of stridor. These children did not undergo bronchoscopy. The remaining 6 chil- dren of the total study population of 23 children had RESULTS mild symptoms that did not justify bronchoscopy. A tracheotomy was performed in 6 children, 2 of whom Twenty-three children with Down syndrome and upper air- had laryngomalacia that had been treated unsuccess- way obstruction were included in the study. The children fully with laser aryepiglottoplasty. Two other children ranged in age from 1 day to 10.2 years (mean age, 1.8 years; had GERD and severe aspiration in addition to laryngo- median age, 6 months). Thirteen children were male and malacia. One child had tracheomalacia, and 1 child had 10 were female. The caregivers for 15 children identified obstructive sleep apnea that did not improve after themselves as Hispanic or Latino, 5 as Native Americans, adenotonsillectomy. 2 as non-Hispanic whites, and 1 as Asian. Fourteen chil- Nineteen (83%) of the children in the study popu- dren were full-term neonates and 9 were preterm. lation had systemic comorbidities. Gastroesophageal re- Eleven children (48%) had obstructive sleep ap- flux, which was the most common systemic comorbid- nea, 10 (43%) had laryngomalacia, 1 had tracheomala- ity, was present in 14 children (61%). Chronic lung disease cia, and 1 had inhaled a foreign body (Table 1). The was present in 13 children (56%), 6 of whom were pre- age range for children with obstructive sleep apnea was term. Congenital cardiac disease was present in 11 chil- 3 months to 10 years. The majority of these children (73%) dren (48%). Pulmonary hypertension was diagnosed in were older than 2 years. The age range for children with 7 children (30%). Seventeen children (74%) had 2 or more laryngomalacia was 1 day to 2 years. Eight of these chil- systemic comorbidities. Four children (17%) had 3 co- dren were 1 month or younger. morbidities, which included GERD, chronic lung dis- All children with a primary diagnosis of obstruc- ease, and congenital heart disease. tive sleep apnea had a secondary ear, nose, and throat disorder, most commonly recurrent otitis media (73%). COMMENT One child with obstructive sleep apnea also had laryn- gomalacia. A secondary ear, nose, and throat disorder was In children with Down syndrome who are younger than present in 4 children with laryngomalacia. One child with 1 month, the combination of laryngomalacia and GERD laryngomalacia also had a unilateral vocal cord palsy. Sec- may lead to upper airway obstruction that presents as stri- ondary ear, nose, and throat disorders were present in dor. In the present study, this was the most common rea- all children 2 years or older and in 7 (54%) of the chil- son for a neonate with Down syndrome to require a tra- dren younger than 2 years. cheotomy. In children 2 years and older, obstructive sleep All children in the study population underwent at apnea is the major cause of upper airway obstruction that least 1 diagnostic or therapeutic procedure for upper air- presents as sleep-disordered breathing.