Oro-myofunctional Characteristics and Obstructive Sleep Apnea in Infants With Down Syndrome

Exploring the Relationships Between Oro-myofunctional Characteristics and Obstructive Sleep Apnea in Infants With Down Syndrome

Obstructive Sleep Apnea (OSA) is characterised by repetitive collapse of the upper airway during sleep, inducing breathing disturbances that can result in oxygen desaturation and frequent arousals. In children, OSA can have long-term consequences on the development and on the cardiovascular system.

Down Syndrome (DS) is a genetic disorder associated with intellectual disability and many comorbidities. The prevalence of OSA is particularly high in patients with DS, from infancy. In a recent study by Fauroux et al. (2024), OSA was diagnosed in 97% infants and early diagnosis and intervention from the age of 6 months was associated with better neurocognitive outcome at 3 years old. However, polysomnography (PSG - the gold standard method for diagnosing OSA) is poorly accessible, highlighting the need to develop new strategies to prevent and to screen OSA early in infancy.

OSA can be linked to some orofacial abnormalities presented by patients with DS. Indeed, orofacial functions and structures ca play a crucial role in OSA. For example, nose breathing allows the tongue to act as a stimulator of the transverse maxillary growth during childhood, allowing the upper airway to develop properly.

The primary objective of the present study is to explore the relationships between oro-myo-facial functions, more specifically non-nutritive sucking, and the severity of OSA in 6 months old infants with DS.

The main hypothesis is that OSA severity (estimated by the obstructive apnea hypopnea index on PSG) will be negatively correlated to non-nutritive sucking performance.

Data from this study could help developing easily accessible protocols for OSA screening based on simple sucking recording. Some interventions could also be tested to prevent OSA from the beginning of life, like an innovative pacifier recently developed by a French start-up to stimulate nose breathing and to promote correct positioning of the tongue.

Inclusion Criteria:

(infants with Down Syndrome)

• Aged 6 months (±3 weeks)
• Diagnosed with Trisomy 21
• Affiliated to a social security scheme
• With informed consent of the 2 legal representatives

Exclusion Criteria:

• Diagnosed with mosaic Down syndrome
• Born preterm (gestation age at birth <37 weeks)
• Treated for OSA with Continuous Positive Airway Pressure
• Known allergy to silicone
• Currently participating to an interventional study protocol implying an ongoing exclusion period from other studies
• Refusal from legal representatives.