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

Official title

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

Overview

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.

Interventions

• Diagnostic test Polysomnography (PSG) to explore OSA
  Patients will undergo full-night PSG (including electrocardiogram to monitor heart rate and the JAWAC system to record mandibular movements) in the sleep unit of Hôpital Femme-Mère-Enfant (Bron, France) to explore OSA, included in the routine care of children with DS. OSA diagnosis will be made based on the obstructive apnea-hypopnea index (OAHI) resulting from the PSG. OSA will be diagnosed when OAHI ≥1.5/hour.
• Other Oro-myo-functional clinical evaluation
  Orofacial myofunctional evaluation will be conducted by a physiotherapist according to the OMES-E (Orofacial Myofunctional Evaluation with Scores for Nursing Infants).
• Other Sleep Disturbance Scale for Children
  The Sleep Disturbance Scale for Children is a short questionnaire answered by parents about their child's sleep disorders. Total score and scores for each sleep disorder will be calculated, according to the classical procedures during hospitalization of all children in our sleep unit.
• Other Non-nutritive sucking recording
  Non-nutritive sucking performance will be recorded through an experimental method using a classical pacifier, equipped with pressure sensors. Recording will last about 10 minutes. Variables related to sucking performance (maximum amplitude, frequency of sucking bursts, etc.) will be recorded.
• Behavioral Neurocognitive evaluation
  The Bayley Scales of Infant and Toddler Development (4th edition) will be administered by a neuropsychologist. Five subset scores (cognitive, receptive communication, expressive communication, fine motor, gross motor) will be calculated, along with three composite scores (cognitive, language, motor).
• Other PedsQL-Infants
  The PedsQL-Infants questionnaire is designed to evaluate quality of life in infants. It will be given to parents during their child's hospitalization.
• Other Sleep Hygiene Scale for Children
  The Sleep Hygiene Scale for Children is a short questionnaire answered by parents about behavioral sleep disorders. Total result ("sleep hygiene issue" : yes/no) and three scores (attachment parenting, translational coping, screen exposure) will be calculated, according to the classical procedures during hospitalization of all young children in our sleep unit.

Primary outcome measures

• Number of peaks composing sucking bursts and obstructive apnea-hypopnea index (OAHI) [Time frame: Day 1]

Secondary outcome measures (10)

• Oro-facial myo-functional characteristics [Time frame: D1]
• Respiratory PSG indices [Time frame: Night between Day 1 and Day 2.]
• Subjective parental evaluation of sleep disorders on the Sleep Disturbance Scale for Children (SDSC) [Time frame: Day 1]
• Subjective parental evaluation of sleep hygiene on the Sleep Hygiene Scale for Children (SHSC) [Time frame: Day 1]
• Heart rate variability (HRV) [Time frame: Night between Day 1 and Day 2.]
• Electrophysiological evaluation of sucking [Time frame: Day 1]
• Neuropsychological evaluation [Time frame: Day 2]
• Quality of life on the PedsQL [Time frame: Day 1]
• Clinical examination of oro-facial myo-functional characteristics [Time frame: Day 2]
• PSG sleep architecture parameters [Time frame: Night between Day 1 and Day 2.]

Eligibility criteria

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.

Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.

Healthy volunteers: No

Study design

Observational model

Cohort

Study locations

France · 1 center

• Service d'épileptologie clinique, des troubles du sommeil et de neurologie fonctionnelle d — Bron

Identifiers

NCT: NCT07195253 · 69HCL25_0309 · 2025-A01900-49

Primary sources (government registries)

• ClinicalTrials.gov (US NIH)

View this study on ClinicalTrials.gov ↗