Obstructive Sleep Apnoea in Children with Down Syndrome: A Multidisciplinary Approach

Area of Science:

• Pediatrics
• Sleep Medicine
• Genetics

Background:

• Down syndrome (DS) is frequently associated with obstructive sleep apnoea (OSA), impacting patient management.
• Early and accurate diagnosis of OSA in DS children is essential for improving health outcomes.
• A multidisciplinary approach may enhance the evaluation and management of DS with OSA.

Purpose of the Study:

• To evaluate the effectiveness of a multidisciplinary approach in diagnosing obstructive sleep apnoea (OSA) in children with Down syndrome (DS).
• To identify key clinical and polysomnographic indicators of OSA in this population.

Main Methods:

• Prospective investigation of 48 DS children (aged 4-12 years) using nasal endoscopy, orthodontic examination, and overnight polygraphy (PG).
• Mothers completed the Italian Child Sleep Habits Questionnaire (CSHQ-IT).
• Analysis of ear, nose, throat (ENT) characteristics, orthodontic data, and PG results, including oxygen desaturation index (ODI) and apnoea-hypopnea index (AHI).

Main Results:

• Obstructive sleep apnoea (OSA) was diagnosed in 67% of DS children, with 63% having moderate-to-severe OSA.
• High prevalence of ENT issues (85% adenoid tonsils, 62% palatine tonsils, 85% chronic rhinosinusitis) and orthodontic findings (51% cross-bite) were observed.
• Higher ODI and lower SpO2 were noted in moderate-to-severe OSA cases. Enlarged adenoids and tonsils, and cross-bite correlated with increased AHI and ODI.

Conclusions:

• A coordinated, multidisciplinary evaluation including overnight polygraphy (PG) is highly valuable for diagnosing obstructive sleep apnoea (OSA) in children with Down syndrome (DS).
• Specific ENT and orthodontic features can indicate increased risk for OSA in DS.
• This comprehensive approach aids in developing effective diagnostic protocols for OSA in DS.