The particular case of sleep-disordered breathing in syndromic patients
Pediatric pulmonologist, Head of the Pediatric Non-invasive Ventilation and Sleep Unit, Necker Hospital, Paris, France
2 Pediatric pulmonologist, Pediatric Non-invasive Ventilation and Sleep Unit, Necker Hospital, Paris, France
Address for correspondence: Brigitte Fauroux 149, Rue de Sèvres 75015 Paris, France. firstname.lastname@example.org
Classical childhood obstructive sleep apnea syndrome (OSAS) is relatively common, affecting approximately 1% to 2% of children between the ages of 3 to 6 years. Adenotonsillar hypertrophy is the prime cause, and adenotonsillectomy is the first-line treatment, leading to cure in most cases.
However, OSAS is also found in some more rare but very numerous disorders, including craniofacial or upper airway deformities such as Pierre Robin sequence, Franceschetti syndrome, craniofacial stenosis, achondroplasia, Down syndrome, Prader-Willi syndrome, and mucopolysaccharidosis. Unlike in classical childhood OSAS, anatomical and functional upper airway abnormalities are the main pathophysiological determinants, clinical symptoms of sleep-disordered breathing are often slight or absent, and the syndrome is usually more severe than classical childhood OSAS and can be observed at any age; systematic sleep study is therefore justified. Isolated adenotonsillectomy is rarely able to cure the OSAS.
Management should be multidisciplinary, including, severally or together, a pediatric ENT surgeon, pediatric maxillofacial surgeon, orthodontist, pediatric neurosurgeon, pediatric sleep specialist and an expert in pediatric non-invasive ventilation because of the frequent need for nocturnal respiratory support by non-invasive continuous positive airway pressure.
It is important to be aware of these rare pathologies that may underlie OSAS, to enable early screening for sleep-disordered breathing and adapted therapy.
Key words: Obstructive sleep apnea yndrome / genetic diseases / rare diseases / upper airway deformity / continuous positive airway pressure (CPAP)
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