Obstructive sleep apnoea/hypopnoea syndrome in adults with Down syndrome

Abstract

Key pointsAdults with Down syndrome are predisposed to obstructive sleep apnoea/hypopnoea syndrome (OSAHS) due to overlap between the Down syndrome phenotype and OSAHS risk factors.The prevalence of OSAHS in adults with Down syndrome is estimated at 35–42%. This is up to ten-times higher than in the general adult population.Symptoms of OSAHS, including behavioural and emotional disturbances as well as standard symptoms such as sleepiness, should be monitored as part of regular health surveillance in adults with Down syndrome.There is evidence that the use of continuous positive airway pressure (CPAP) therapy in adults with Down syndrome and comorbid OSAHS can lead to significant improvements in subjective sleepiness, behaviour and cognitive function, though further large-scale trials are required.Educational aimsTo discuss the relationship between the phenotypic features of Down syndrome and the risk factors for obstructive sleep apnoea/hypopnoea syndrome (OSAHS).To examine the prevalence of OSAHS in adults with Down syndrome.To review recent research into the effectiveness of treatment of OSAHS in adults with Down syndrome using continuous positive airway pressure (CPAP) therapy.Obstructive sleep apnoea/hypopnoea syndrome (OSAHS) is characterised by repeated cycles of upper airway obstruction during sleep, leading to diurnal symptoms. Individuals with Down syndrome are predisposed to OSAHS due to overlap between the Down syndrome phenotype and OSAHS risk factors. Recent large studies using subjective and objective measures estimate that OSAHS affects around 40% of adults with Down syndrome, in contrast to 2–4% of the general adult population. The “double-hit” of comorbid Down syndrome and OSAHS may accelerate cognitive decline in adults with Down syndrome. However, with the appropriate care and support, OSAHS can be treated effectively in this group using continuous positive airway pressure (CPAP) therapy, improving daytime function and behaviour. Symptoms of OSAHS should be routinely monitored in this population, with testing and treatment available to all adults with Down syndrome; however, this is not currently commonplace, and health inequalities are evident.

Pulmonary hemosiderosis in children with Down syndrome: a national experience

“…Patients with DS have additional risk factors for PAH due to chronic hypoxia and recurrent hypoxic events such as frequent congenital heart diseases, lung infections, recurrent aspirations, and obstructive sleep apnea syndrome (OSAS) [ 30 ]. OSAS is observed in up to half of adult DS patients [ 31 ]. In children, extreme prevalence between 0 and 100% has been reported in small cohorts [ 30 , 32 , 33 ].…”

Hypoglossal nerve stimulation in three adults with down syndrome and severe obstructive sleep apnea

“…Individuals with DS are predisposed to OSA and often demonstrate multilevel upper airway collapse that is resistant to monotherapy . Although CPAP has the most supportive data for the effective management of multilevel, multifactorial OSA, achieving adequate adherence remains a significant challenge in both the general and DS adult populations.…”

“…The prevalence of obstructive sleep apnea (OSA) in the adult population with Down syndrome (DS) is estimated to be 35% to 42%, compared to approximately 12% in the general population . Individuals with DS exhibit multiple predisposing factors for OSA, such as midface and mandibular hypoplasia, narrow nasopharynx, macroglossia, glossoptosis, hypotonia, adenotonsillar hypertrophy, and obesity . Untreated OSA increases the risks for cardiovascular morbidity, metabolic and hormonal disruptions, neurocognitive impairment, and death in patients with moderate to severe OSA …”

Sleep disordered breathing and ventilatory support in children with Down syndrome

“…Down syndrome (DS) is the most commonly recognized cause of intellectual disability worldwide . It is due to the presence of an additional full or partial copy of chromosome 21 and affects one in 1000 live births .…”

“…Midfacial and upper airway anatomical abnormalities, hypotonia, thyroid dysfunction, laryngomalacia (which has a high prevalence in DS), and an immature immune system with the risk of frequent upper respiratory infections predispose these children to upper airway obstruction, particularly during sleep. Obesity is common, although Body Mass Index (BMI) is not reported to relate to the severity of OSAS in children with DS . Pulmonary hypertension is highly prevalent in children with DS and is potentially worsened by OSAS.…”