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

NCT07195253 | Not Yet Recruiting

• 2 other identifiers: 69HCL25_03092025-A01900-49
• Study Type: observational
• Target: 30
• Locations: 1 country
• Sites: 1

Brief Summary

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.

Conditions

Obstructive Sleep Apnea; Down Syndrome (Trisomy 21)

Keywords

sleep apnea; Down Syndrome; oro-myofunctional development; sleep; non-nutritive sucking

Outcome Measures

Primary Outcomes (1)

• Number of peaks composing sucking bursts and obstructive apnea-hypopnea index (OAHI)

  Number of peaks during sucking bursts will be measured by non-nutritive sucking recording. OAHI will be measured by PSG.

  Day 1

Secondary Outcomes (10)

• Oro-facial myo-functional characteristics

  D1

• Respiratory PSG indices

  Night between Day 1 and Day 2.

• Subjective parental evaluation of sleep disorders on the Sleep Disturbance Scale for Children (SDSC)

  Day 1

• Subjective parental evaluation of sleep hygiene on the Sleep Hygiene Scale for Children (SHSC)

  Day 1

• Heart rate variability (HRV)

  Night between Day 1 and Day 2.

Study Arms (1)

Infants with Down Syndrome

6 month-old infants with Down Syndrome recorded by polysomnography

Diagnostic Test: Polysomnography (PSG) to explore OSA; Other: Oro-myo-functional clinical evaluation; Other: Sleep Disturbance Scale for Children; Other: Non-nutritive sucking recording; Behavioral: Neurocognitive evaluation; Other: PedsQL-Infants; Other: Sleep Hygiene Scale for Children

Interventions

Oro-myo-functional clinical evaluation OTHER

Orofacial myofunctional evaluation will be conducted by a physiotherapist according to the OMES-E (Orofacial Myofunctional Evaluation with Scores for Nursing Infants).

Infants with Down Syndrome

Sleep Disturbance Scale for Children OTHER

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.

Infants with Down Syndrome

Non-nutritive sucking recording OTHER

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.

Infants with Down Syndrome

Neurocognitive evaluation BEHAVIORAL

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).

Infants with Down Syndrome

PedsQL-Infants OTHER

The PedsQL-Infants questionnaire is designed to evaluate quality of life in infants. It will be given to parents during their child's hospitalization.

Infants with Down Syndrome

Sleep Hygiene Scale for Children OTHER

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.

Infants with Down Syndrome

Polysomnography (PSG) to explore OSA DIAGNOSTIC_TEST

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.

Infants with Down Syndrome

Eligibility Criteria

• Age: 5 Months - 6 Months
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17)
• Sampling Method: Non-Probability Sample

Study Population

This study involves 6-month-old infants diagnosed with Down syndrome.

You may qualify if:

• (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

You may not qualify if:

• 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
• Refusal from legal representatives.

Sponsors & Collaborators

• Hospices Civils de Lyon: lead

Study Sites (1)

Service d'épileptologie clinique, des troubles du sommeil et de neurologie fonctionnelle de l'enfant

Bron, 69500, France

Location

MeSH Terms

Conditions

Sleep Apnea, Obstructive; Down Syndrome; Sleep Apnea Syndromes

Interventions

Polysomnography

Condition Hierarchy (Ancestors)

Apnea; Respiration Disorders; Respiratory Tract Diseases; Sleep Disorders, Intrinsic; Dyssomnias; Sleep Wake Disorders; Nervous System Diseases; Intellectual Disability; Neurobehavioral Manifestations; Neurologic Manifestations; Abnormalities, Multiple; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Chromosome Disorders; Genetic Diseases, Inborn

Intervention Hierarchy (Ancestors)

Monitoring, Physiologic; Diagnostic Techniques and Procedures; Diagnosis

Central Study Contacts

Patricia PF FRACO, MD, PhD

CONTACT

+33 4 27 85 60 52; patricia.franco@chu-lyon.fr

Aurore GUYON, PHD

CONTACT

+33 4 27 85 52 47; aurore.guyon@chu-lyon.fr

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: September 2, 2025
• First Posted: September 26, 2025
• Study Start: March 1, 2026
• Primary Completion (Estimated): October 1, 2027
• Study Completion (Estimated): October 1, 2027
• Last Updated: February 4, 2026

Record last verified: 2026-02

Locations

FR (1)