Down syndrome, an ENT prespective

Date: 30 May 2016

Venue: UAntwerp - Campus Drie Eiken - Building Q - Promotiezaal - Universiteitsplein 1 - 2610 WILRIJK

Time: 4:00 PM

Organization / co-organization: Faculty of Medicine and Health Sciences

PhD candidate: Mieke Maris

Principal investigator: Prof P. Van de Heyning & Prof A. Boudewyns

Short description: PhD defence Mieke Maris - Faculty of Medicine and Health Sciences


Down syndrome (DS) is the most common chromosomal abnormality in live born children and is frequently associated with a variety of comorbidities, including ear-nose-throat (ENT) pathology. Together with the increasing life expectancy in individuals with DS, optimized and age-specific health care will be mandatory to obtain maximum quality of life. This thesis focuses on three ENT problems encountered in children with DS: 1) General sleep problems, 2) Obstructive sleep apnea (OSA) and 3) Middle ear pathology.

Based upon the Child Sleep Habits questionnaire, children with DS were found to have a high prevalence of sleep problems (74%) compared to normal developing children (36%). Daytime sleepiness, sleep disordered breathing and parasomnias were significantly more reported in children with DS. Although almost half of the children were diagnosed with OSA, no correlation between general sleep problems and underlying OSA could be found. These findings underscore the importance of performing a polysomnography (PSG) in all children with DS.

Based upon PSG data in 122 children with DS, we found a high prevalence of OSA (66%), mostly in the severe range (obstructive apnea hypopnea index (oAHI) ≥ 10/h). Even in those with a negative history, more than half of the children presented with OSA. Younger children often had more severe OSA. No correlation was found between OSA severity and patient related factors. Adenotonsillectomy resulted in a significant improvement in oAHI, yet 47.1% of the children had persistent disease (oAHI ≥ 5/h) independent of patient related factors.  Drug-induced sedation endoscopy (DISE) was investigated as a tool to assess upper airway collapse in children with DS and OSA, and to evaluate outcome results of DISE directed treatment. A high percentage of surgically naive children with DS (85%) presented with a multilevel collapse. In most children an UA collapse at the level of adenoids/tonsils was found (75%) and only a minority presented with tongue base collapse (7%). No significant association between pre-operative DISE findings and persistent OSA could be found. Age-specific prevalence numbers of otitis media with effusion (OME) revealed a high prevalence at the age of 1 year (66%) and 6-7 years old (60%). Bilateral OME was associated with significant hearing loss, and a systematic clinical and audiometric follow up in children with DS is advocated.