Sleep Disorders in Adults with Down Syndrome

Giménez, Sandra; Altuna, Miren; Blessing, Esther; Osorio, R.; Fortea, Juan

doi:10.3390/jcm10143012

Cited by 20 publications

(27 citation statements)

References 86 publications

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“…The prevalence of sleep breathing disorders in people with DS reported in the present survey was high, with OSA being the most common type in line with published literature (Lee et al 2018;Giménez et al 2021). Indeed, OSA was usually undetected by caregivers, and only half of the subjects were screened due to reported disturbed sleep symptoms.…”

Section: Discussionsupporting

confidence: 88%

Caregiver knowledge of obstructive sleep apnoea in Down syndrome

Giménez

Tapia

Fortea

et al. 2022

J intellect Disabil Res

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BackgroundDown syndrome (DS) population has a very high prevalence of obstructive sleep apnoea (OSA), but this remains underdiagnosed. Hence, we aimed to evaluate caregiver's knowledge of OSA and related sociodemographic factors that could contribute to OSA screening patterns in this population.MethodsAn online survey though the LuMind IDSC Foundation focused on OSA diagnosis, treatments and the number of sleep studies performed. Data were compared between subjects born before and after the American Academy of Pediatrics (AAP) recommendations for OSA screening.ResultsOf the caregivers, 724 (parents 96.3%), responded to the survey. The median [interquartile (IQR)] age of the subjects with DS was 12 [20;7] years. The majority (84.3%) had sleep apnoea diagnosis, and half of them were initially referred for a sleep study due to disturbed sleep symptoms. Only 58.7% of the responders were aware of the AAP recommendations. This was linked to higher socioeconomic and/or educational level and to an earlier OSA diagnosis. The median (IQR) age of OSA diagnosis was lowered after the AAP guidelines publication compared with before its publication (3 [4;2] years vs. 10 [18;5] years, P < 0.000). Adenotonsillectomy (81.9%) and continuous positive airway pressure (61.5%) were the most commonly prescribed treatments. Few had discussed other new therapies such as hypoglossal nerve stimulation (16.0%). Only 16.0% of the subjects repeated the sleep study to monitor OSA with ageing, and 30.2% had to wait more than 4 years between studies.ConclusionsThis study reinforces the need to improve OSA knowledge of caregivers and clinicians of individuals with DS to promote an earlier diagnosis and optimal treatment of OSA in this population.

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Section: Discussionsupporting

confidence: 88%

Caregiver knowledge of obstructive sleep apnoea in Down syndrome

Giménez

Tapia

Fortea

et al. 2022

J intellect Disabil Res

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“…In the intellectual disability population, it has been proposed that other disease factors, such as improvement in sleep quality, may in part explain the high CPAP tolerance observed ( Campos-Rodriguez et al, 2005 ; Weaver and Grunstein, 2008 ). CPAP compliance may vary with age, with younger subjects presenting worse compliance ( Kang et al, 2019 ; Giménez et al, 2021 ). Maybe middle-aged patients actually represent the milder end of the OSA severity spectrum, with better CPAP compliance.…”

Section: Discussionmentioning

confidence: 99%

“…With aging, this risk increases, partly due to the development of hypothyroidism and obesity ( Lal et al, 2015 ). The prevalence of OSA in adults with DS ranges between 65 and 89% ( Trois et al, 2009 ; Giménez et al, 2018 , 2021 ; Landete et al, 2020 ), which represents that OSA is at least five times more common in DS than in the general population ( Heinzer et al, 2015 ).…”

Section: Introductionmentioning

confidence: 99%

“…In the population with DS, as in the general population, OSA may impair cognitive function and accelerate the progression to AD dementia ( Cody et al, 2019 ; Giménez et al, 2021 ). The elevated risk of both AD and OSA in adults with DS makes this population ideally an optimal model not only to study this relationship, but also to conduct clinical trials of preventive sleep therapies for AD.…”

Section: Introductionmentioning

confidence: 99%

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Feasibility and Long-Term Compliance to Continuous Positive Airway Pressure Treatment in Adults With Down Syndrome, a Genetic Form of Alzheimer’s Disease

et al. 2022

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BackgroundDown syndrome (DS) is a genetic form of Alzheimer’s disease (AD) with a high prevalence of obstructive sleep apnea (OSA). These characteristics place the DS population as an optimal model to study the relationship between sleep and AD and to design clinical trials of preventive sleep therapies for AD. Regrettably, OSA treatment with continuous positive airway pressure (CPAP) is often neglected in adults with DS. In both clinical practice and research trials, it is usually presumed that these patients will not adapt to or tolerate the therapy.Study ObjectiveWe aimed to evaluate the feasibility and long-term CPAP compliance in this population and their capacity to be enrolled in CPAP research studies.MethodsWe prospectively compared the CPAP compliance of 17 OSA patients with DS and 19 age and sex matched OSA euploid patients. CPAP management and follow-up schedules were prescribed according to the habitual clinical practice. We compared group differences in tolerance, objective, and subjective hours of nightly CPAP usage at the 1st, 3rd, 6th, 12th, 24th, and 36th month visits. Good compliance was defined as at least 4 h use per night. We also investigated predictive factors of long-term CPAP compliance.ResultsThe percentage of DS subjects with good CPAP compliance (81.2 vs. 78.9%) and the objective CPAP use (5 vs. 6 h, p = 0.92) did not differ from the control group (CG). Subjective CPAP compliance was significantly higher in OSA patients with DS than in controls in all the follow-up visits (8 vs. 6.75 h, p = 0.001). The DS group had a significantly higher number of visits (9 vs. 5; p = 0.021) and mask changes (2.5 vs. 2; p = 0.05) than controls. Objective hours of CPAP use at the first follow-up visit predicted long-term CPAP compliance (p < 0.005).ConclusionCPAP treatment is feasible and has good long-term compliance in OSA patients with DS. It should be recommended to improve health and prevent comorbidities. The DS population is indeed suitable to participate in longitudinal preventive sleep clinical trials for AD.

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“…They found that adiponectin, but not leptin or insulin levels, were decreased in the frontal cortex of a mouse model of DS, and maternal choline treatment partially rescued adiponectin levels in the adult pups. The Barcelona group reported interesting new findings regarding sleep disturbances in the DS population (Giménez et al, 2021) [ 11 ]. They suggested that sleep disruption could influence the progression of dementia in individuals with DS and stressed the importance of investigating this clinical comorbidity more thoroughly.…”

mentioning

confidence: 99%