# Obstructive sleep apnea in adults with Down syndrome: body composition, metabolic profile and cognitive status

**Authors:** Lígia Fidelis Ivanovic, Cristiana Castanho de Almeida Rocca, Rosa Hasan, Pâmella Pollyanna Braga Carra Costela, Geraldo Lorenzi-Filho, Orestes Vicente Forlenza, Milton A. Martins, Patricia Zen Tempski

PMC · DOI: 10.1016/j.clinsp.2026.100867 · 2026-02-13

## TL;DR

Adults with Down syndrome have a high rate of obstructive sleep apnea, which is linked to body fat, metabolic issues, and memory problems.

## Contribution

This study identifies OSA in adults with Down syndrome as a significant health issue associated with body composition, metabolic changes, and cognitive decline.

## Key findings

- Obstructive sleep apnea occurs in 63% of adults with Down syndrome.
- OSA is associated with higher abdominal fat, larger neck size, and worse memory performance.
- OSA in Down syndrome is linked to metabolic changes like high blood pressure and low HDL cholesterol.

## Abstract

•Sleep apnea in Down syndrome may relate to obesity and body fat distribution.•Abdominal fat and neck size are linked to sleep apnea in Down syndrome.•Sleep apnea may be related to metabolic changes in adults with Down syndrome.•Obstructive sleep apnea may impair memory and cognition in Down syndrome.•Obstructive sleep apnea in Down syndrome is linked to poor memory performance.

Sleep apnea in Down syndrome may relate to obesity and body fat distribution.

Abdominal fat and neck size are linked to sleep apnea in Down syndrome.

Sleep apnea may be related to metabolic changes in adults with Down syndrome.

Obstructive sleep apnea may impair memory and cognition in Down syndrome.

Obstructive sleep apnea in Down syndrome is linked to poor memory performance.

Down Syndrome (DS) is the main genetic cause of Intellectual Disability (ID) and is characterized by the presence of several medical comorbidities. Among these, Obstructive Sleep Apnea (OSA) stands out, with a prevalence much higher than that of the general population. The clinical impact of OSA in subjects without DS described in the literature includes increased cardiovascular, metabolic and neurocognitive risk. However, among the adult population with DS, these associations are poorly described.

To evaluate the presence and characterize OSA in adults with DS and its association with body composition, metabolic profile, functional and cognitive performance.

This cross-sectional study included 34 persons with DS aged 18 years or over. The measurements were: anthropometry, complete Polysomnography in the Sleep laboratory (PSG), neuropsychological assessment using the Abbreviated Wechsler Intelligence Scale and NEUPSILIN Brief Assessment Instrument, biochemical assessments, and functionality scales (Barthel and Lawton). There were 30 representative PSG. Subjects with and without OSA were compared regarding clinical, anthropometric, functional (n = 30), and cognitive (n = 20) variables. Sleep changes were correlated with the variables under study.

The frequency of OSA (apnea-hypopnea index ≥ 5 events/h) was 63 %. As compared to no OSA, OSA was associated with male sex (p = 0.001), greater cervical circumference (34 vs. 40 cm, p < 0.001), greater deposition of abdominal fat (82 vs. 92 cm, p = 0.049), higher average levels systolic blood pressure (p = 0.03), higher frequency of altered fasting blood glucose or glycated hemoglobin equal to or greater than 5.7 % (p = 0.03) and low HDL cholesterol (p = 0.004). OSA was associated with worse performance in episodic and semantic verbal memory (p = 0.02).

Adults with DS have a high frequency of OSA, which may be related to metabolic profile and worse memory performance.

## Linked entities

- **Diseases:** Down syndrome (MONDO:0008608), Obstructive Sleep Apnea (MONDO:0007147), Intellectual Disability (MONDO:0001071)

## Full-text entities

- **Genes:** REN (renin) [NCBI Gene 5972] {aka ADTKD4, HNFJ2, RTD}
- **Diseases:** neurological impairment (MESH:D009422), cognitive decline (MESH:D003072), celiac disease (MESH:D002446), Hypertriglyceridemia (MESH:D015228), hypoxemia (MESH:D000860), CC (MESH:D002575), memory deficits (MESH:D008569), hearing loss (MESH:D034381), Hyperuricemia (MESH:D033461), Hypopnea (MESH:D012891), fatigue (MESH:D005221), dementia (MESH:D003704), Overweight (MESH:D050177), coronary artery disease (MESH:D003324), stroke (MESH:D020521), neurodevelopmental alterations (MESH:C535809), hypercapnia (MESH:D006935), AOS (MESH:C538225), sleep fragmentation (MESH:D012892), OSA (MESH:D020181), arrhythmias (MESH:D001145), hypercholesterolemia (MESH:D006937), Obesity (MESH:D009765), renal lithiasis (MESH:D020347), visual or hearing alterations (MESH:D006311), psychological disorders (MESH:D000067073), maxillary and midface hypoplasia (MESH:D008439), craniofacial abnormalities (MESH:D019465), insulin resistance (MESH:D007333), heart, thyroid, psychiatric diseases (MESH:D001523), mandibular hypoplasia (MESH:D008336), Neurocognitive impairments (MESH:D019965), cardiovascular diseases (MESH:D002318), keratoconus (MESH:D007640), diabetes mellitus (MESH:D003920), DS (MESH:D004314), COVID-19 (MESH:D000086382), endothelial dysfunction (MESH:D014652), deficits in executive functions, attention and memory (MESH:D001289), macroglossia (MESH:D008260), ID (MESH:D008607), hypertension (MESH:D006973), daytime sleepiness (MESH:D012893), visual and auditory deficits (MESH:D014786), impairments in alertness, vigilance, and attention (MESH:D000405), hypothyroid (MESH:D007037), Apnea (MESH:D001049), acromegaly (MESH:D000172), gastroesophageal reflux disease (MESH:D005764), hypotonia (MESH:D009123), retrognathia (MESH:D063173), epilepsy (MESH:D004827), metabolic syndrome (MESH:D024821)
- **Chemicals:** glucose (MESH:D005947), cholesterol (MESH:D002784), blood glucose (MESH:D001786), lipid (MESH:D008055), triglycerides (MESH:D014280), aldosterone (MESH:D000450), catecholamine (MESH:D002395), uric acid (MESH:D014527), oxygen (MESH:D010100), T4 (MESH:D013974)
- **Species:** Homo sapiens (human, species) [taxon 9606]

## Figures

3 figures with captions in the complete paper: https://tomesphere.com/paper/PMC12924187/full.md

---
Source: https://tomesphere.com/paper/PMC12924187