- Obstructive sleep apnea (OSA) can contribute to cognitive impairment, behavioural difficulties, growth retardation, nocturnal enuresis and extreme cases pulmonary hypertension.
- In typically developing children the incidence OSA is reported to be between 1-4%, whilst in children with Down syndrome studies have shown an incidence between 30- 77%.
- Predisposing factors for OSA in children with DS include midface hypoplasia and mandibular hypoplasia, relative enlargement of the tongue, medially displaced tonsils, obesity and hypotonia predisposing to upper airway collapse at multiple levels during sleep. In addition increased upper airway infections and nasal secretions, and gastroesophageal reflux can lead to increased pharyngeal oedema and further obstruction.
- It is difficult to get an accurate account of a childâ€™s sleep and diagnose OSA based on clinical symptoms alone, it is therefore recommended to have a low threshold for all children to have an overnight pulse oximetry, a negative result in the presence of symptoms should be followed up with detailed sleep polymsomnography studies. Some guidelines suggest that this should be offered to all children with Down syndrome by the age of four due to high prevalence and the significant impact of OSA. In the UK currently there is no clear consensus regarding routine screening pulse oximetry studies in children with Down syndrome.
- Currently research is underway to evaluate the use of a validated screening questionnaire for obstructive sleep apnea in children with Down syndrome and the use home sleep polysmongraphy
- Treatment includes treating underlying nasal congestion, lower respiratory infections, gastroesophageal reflux, addressing any weight management issues and removal of enlarged tonsils and adenoids.
- Persistent residual airway obstruction after removal of T & Aâ€™s can be present in up to 10-20% in children with Down syndrome due to a number of reasons including re- growth of adenoids and multi- level obstruction. If symptoms persist despite the appropriate treatment overnight positive ventilation with nasal CPAP/BiPAP should be considered and offered, prior to any further surgical interventions.
Presentations at DSMIG Meetings
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Goffinski A, Stanley MA, Shepherd N, Duvall N, Jenkinson SB, Davis C, Bull MJ, Roper RJ. 2014. Obstructive sleep apnea in young infants with Down Syndrome evaluated in a Down Syndrome specialty clinic. Am J Med Genet Part A. 167A:324â€“330. doi: 10.1002/ajmg.a.36903
Sanders E, Hill CM, Evans HJ and Tuffrey C (2015) The development of a screening questionnaire for obstructive sleep apnea in children with Down syndrome. Front. Psychiatry 6:147. doi: 10.3389/fpsyt.2015.00147+
Lal C, White DR, Joseph JE, van Bakergem K, LaRosa A. Sleep-disordered breathing in Down syndrome. Chest. 2015 Feb; 147(2):570-9. doi: 10.1378/chest.14-0266.
Brockmann PE, Damiani F, NuÃ±ez F, Moya A, Pincheira E, Paul MA, Lizama M Sleep-disordered breathing in children with Down syndrome: Usefulness of home polysomnography Int J Pediatr Otorhinolaryngol. 2016 Apr; 83:47-50. doi:10.1016/j.ijporl.2016.01.0
Book Chapter – Respiratory Disease
Hazel Evans, Katy Pike,Marian McGowan and Sally Shott
Edited by Richard Newton , Shiela Puri and Liz Marder