Obstructive Sleep Apnea in Adults with Down Syndrome

Abstract

SciEnTific invESTigaTiOnSObjectives: A high proportion of children with Down syndrome (DS) have the obstructive sleep apnea syndrome (OSAS). Although adults with DS have many predisposing factors for OSAS, this population has not been well studied. We hypothesized that OSAS is common in adults with DS, and that the severity of OSAS is worse in DS adults who are more obese. Design: Cohort study Setting: Sleep laboratory Participants: 16 adults with DS underwent evaluation for sleep disordered breathing. Interventions: Polysomnographic results were compared to a retrospective sample of adult patients referred for clinically suspected OSAS. Measurements and Results: Polysomnograms were abnormal in 94% of DS subjects. The median apnea hypopnea index (AHI) was 37/h (range 0-118). The median arterial oxygen saturation nadir was 75% (23% to 95%), and the median peak end-tidal CO 2 was 58 (47-66) mm Hg. There was a significant correlation between body mass index and AHI (r = 0.53, p < 0.05). Sixty-three percent had an Epworth score > 10. The AHI and saturation nadir were significantly worse in DS than non-DS patients. Conclusions: Adults with DS frequently have OSAS, with obstructive apnea, hypoxemia, hypoventilation, and sleep fragmentation. The severity of OSAS correlated with obesity. We speculate that the complications of untreated OSAS (cardiovascular disease, increased mortality, and neurobehavioral morbidities including daytime sleepiness and impaired cognitive function) commonly overlap with the manifestations of DS and therefore may not elicit a prompt investigation in these patients. We speculate that OSAS is an important, but potentially treatable, cause of morbidity in adults with DS.

Sleep problems and associated comorbidities among adults with Down syndrome

“…The current study did not assess treatment for sleep disorders. Although adherence to treatments for sleep apnoea in the general population is low (~18%; Wild et al 2004), it is possible that the decreased risk for negative outcomes may be related to higher adherence to sleep interventions among adults with DS (35%; Trois et al 2009). Given the small sample of adults reported as having sleep apnoea in this sample, these findings are best considered preliminary and warrant replication prior to modifying healthcare guidelines for individuals with DS (Cohen 2002;Bull & Committee on Genetics 2011).…”

“…Certain facial and physical features contribute to the increased risk, including midfacial hypoplasia, mandibular hypoplasia, glossoptosis (retraction or downward displacement of tongue), an abnormally small upper airway, superficially positioned tonsils, relative tonsillar and adenoidal encroachment, and hypotonia of the upper airway (Marcus et al 1991;Roizen & Patterson 2003). Two health conditions common in adults with DS further contribute to the increased risk for obstructive sleep apnoea: obesity and hypothyroidism (Rajagopal et al 1984;Trois et al 2009). Recently, age has been considered as a possible risk factor for obstructive sleep apnoea given its association with obesity and hypothyroidism, although findings are mixed (Telakivi et al 1987;Resta et al 2003;Trois et al 2009).…”

“…Two health conditions common in adults with DS further contribute to the increased risk for obstructive sleep apnoea: obesity and hypothyroidism (Rajagopal et al 1984;Trois et al 2009). Recently, age has been considered as a possible risk factor for obstructive sleep apnoea given its association with obesity and hypothyroidism, although findings are mixed (Telakivi et al 1987;Resta et al 2003;Trois et al 2009).…”

A nationwide, cross‐sectional survey on unusual sleep postures and sleep‐disordered breathing‐related symptoms in people with Down syndrome

“…These are also well-known risk factors of SDB in the general population (Young 663 1993;Redline et al 1999;Khoo et al 2004;Bixler et al 2009). Similarly, previous studies in people with DS reported that male sex (de Miguel-Diez et al 2003) and obesity were risk factors of SDB (Dyken et al 2003;Ng et al 2006;Trois et al 2009;Shires et al 2010). Obstructive sleep apnoea occurs from a combination of anatomical airway narrowing and abnormal upper airway neuromotor tone.…”

Midline posterior glossectomy and lingual tonsillectomy in obese and nonobese children with down syndrome: Biomarkers for success

“…Low PAP adherence (56%) has been shown in a small study of adults with DS and anecdotally appears to be higher in children with DS, although this has not previously been reported. 25 Poor adherence can be due to behavioral intolerance, persistent obstruction while on PAP therapy, or worsening obstruction due to air pressure pushing a fully obstructive tongue further into the airway (unpublished data seen on CINE MRI; personal communication, Dr. Rob Fleck, Cincinnati Children's Hospital Medical Center, 2010).…”