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.
Study Type
OBSERVATIONAL
Enrollment
30
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.
Orofacial myofunctional evaluation will be conducted by a physiotherapist according to the OMES-E (Orofacial Myofunctional Evaluation with Scores for Nursing Infants).
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.
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.
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).
The PedsQL-Infants questionnaire is designed to evaluate quality of life in infants. It will be given to parents during their child's hospitalization.
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.
Service d'épileptologie clinique, des troubles du sommeil et de neurologie fonctionnelle de l'enfant
Bron, France
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.
Time frame: Day 1
Oro-facial myo-functional characteristics
Variables obtained from electrophysiological (non-nutritive sucking recording) and clinical (OMES-E: 1 total score + 12 subscores) examination of oro-facial myo-functional characteristics.
Time frame: D1
Respiratory PSG indices
Obstructive apnea-hypopnea index (OAHI), apnea-hypopnea index (AHI), respiratory effort-related arousal index (RERA), mean CO2, time spent with CO2 \>50mmHg, mean SpO2, desaturation index \>3%, pulse wave amplitude drop (PWAD), hypoxic burden. PSG sleep architecture parameters: total sleep time (TST), sleep efficiency (TST / time in bed), sleep onset latency (SOL), wake after sleep onset (WASO), percentage of sleep stages (N1, N2, N3, REM), arousal index, awakening index, mandibular movement index.
Time frame: Night between Day 1 and Day 2.
Subjective parental evaluation of sleep disorders on the Sleep Disturbance Scale for Children (SDSC)
SDSC: 1 total score and subscores (insomnia, sleep disordered breathing, non-restorative sleep)
Time frame: Day 1
Subjective parental evaluation of sleep hygiene on the Sleep Hygiene Scale for Children (SHSC)
1 total result ("sleep hygiene issue" : yes/no) and three scores (attachment parenting, translational coping, screen exposure)
Time frame: Day 1
Heart rate variability (HRV)
Time-domain HRV indices: RR, HR, NN50, pNN50, SDNN, RMSSD Frequency-domain HRV indices: Ptot, VLF, LF, HF, LFnu, HFnu, LF/HF ratio. HRV measures will be compared between the sample of children with DS and a control group of healthy children from the AuBE cohort.
Time frame: Night between Day 1 and Day 2.
Electrophysiological evaluation of sucking
All other variables obtained from non-nutritive sucking recording
Time frame: Day 1
Neuropsychological evaluation
Neurosychological evaluation will be conducted by an experienced neuropsychologist using the Bayley Scales of Infant and Toddler Development (4th edition). Total score and subscores (posture, hand-eye coordination, language, sociability) will be collected.
Time frame: Day 2
Quality of life on the PedsQL
Results of the PedsQL consist in 1 total score + 5 subscores (physical functioning, physical symptoms, emotional functioning, social functioning, cognitive functioning)
Time frame: Day 1
Clinical examination of oro-facial myo-functional characteristics
Variables obtained from clinical examination of oro-facial myo-functional characteristics driven by an experienced physiotherapist following the Expanded protocole of Orofacial Myofunctional Evaluation with Scores (OMES-E).
Time frame: Day 2
PSG sleep architecture parameters
Total sleep time (TST), sleep efficiency (TST / time in bed), sleep onset latency (SOL), wake after sleep onset (WASO), percentage of sleep stages (N1, N2, N3, REM), arousal index, awakening index, mandibular movement index
Time frame: Night between Day 1 and Day 2.
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