Overview
Obstructive sleep apnea-hypopnea syndrome (OSAS) is a common disorder in which repeated airway blockages during sleep lead to low oxygen levels, inflammation, and disrupted sleep. Many OSAS patients-both children and adults-experience problems with memory, attention, and mood, such as anxiety or depression. However, the exact molecular drivers of these brain changes are not fully understood.
This observational study will enroll:
Children (ages 2-18) and adults (>18 years) with OSAS, as well as age- and sex-matched healthy volunteers.
Clinical assessments: Children will undergo routine ENT examinations (including nasal endoscopy and X-rays); adults will have an overnight sleep study (polysomnography). All participants will complete questionnaires on sleepiness (e.g., ESS), mood (PHQ-9, GAD-7), and cognitive screening (MoCA for adults, age-appropriate scales for children).
Sample collection: A small blood draw (3 mL) and, when applicable (e.g., adults undergoing surgery), a tiny subcutaneous fat biopsy. Saliva samples will also be collected.
Laboratory tests:
Measure expression levels of two key inflammatory pathway genes-EGR2 and NLRP3-in blood cells, saliva, and fat tissue using RNA sequencing, RT-qPCR, and Western Blot.
Correlate these molecular markers with sleep parameters (AHI, oximetry), cognitive scores, and mood scores.
Data analysis: Develop and validate machine-learning models that integrate data from multiple tissues to predict who is at highest risk for cognitive or mood disturbances.
Eligibility
Inclusion Criteria:
Children aged 2-18 years with obstructive snoring or sleep apnea features on initial ENT outpatient screening.
Adults (>18 years) with suspected OSAS in a sleep or respiratory clinic, presenting with chronic snoring, witnessed apneas, or daytime sleepiness, and without severe chronic heart, liver, kidney failure, psychiatric disorders, or pregnancy.
Signed written informed consent by the participant or their legal guardian. Not currently enrolled in any other registered clinical trial.
Exclusion Criteria:
Presence of congenital craniofacial malformations. Severe heart, lung, liver, or kidney failure, or major neurological disease. Recent use of anti-inflammatory or other immunomodulatory medications. Current psychiatric disorder or pregnancy