Sleep-disordered breathing in paediatric setting: existing and upcoming of the genetic disorders

Abstract

Childhood obstructive sleep apnea syndrome (OSAS) is characterized by anatomical and functional upper airway abnormalities as pathophysiological determinants, and clinical symptoms are frequently clear. OSAS is widely described in rare genetic disorders, such as achondroplasia, Down syndrome, Prader-Willi syndrome, Pierre Robin sequence, and mucopolysaccharidosis. Craniofacial and upper airway involvement is frequently morbid conditions. In children with genetic diseases, the clinical symptoms of OSAS are often slight or absent, and related morbidities are usually more severe and can be observed at any age. The present review is aimed to updating the discoveries regarding OSAS on Achondroplasia, Down syndrome, Prader-Willi syndrome, Pierre Robin sequence, Sickle cell disease, or encountered in our clinical practice (Ehlers-Danlos syndrome, Ellis-van Creveld syndrome, Noonan syndrome). Two additional groups of genetic disorders will be focused (mucopolysaccharidoses and osteogenesis imperfecta). The flowing items are covered for each disease: (I) what is the pathophysiology of OSAS? (II) What is the incidence/prevalence of OSAS? (III) What result from the management and prognosis? (IV) What are the recommendations? Considering the worries of OSAS, such as inattention and behavioural problems, daytime sleepiness, failure to thrive, cardiological and metabolic complications, the benefit of a widespread screening and the treatment in children with genetic diseases is undoubtful. The goals of the further efforts can be the inclusion of various genetic diseases into guidelines for the screening of OSAS, updating the shreds of evidence based on the research progression.

Keywords: Genetic syndrome; children; obstructive sleep apnea (OSA); sleep-disordered breathing (SDB).

Figure 1

MRI of a female child with osteogenesis imperfecta. The imaging shows moderate adenoid hyperplasia. MRI, magnetic resonance imaging.

Figure 2

Orthopantomography in a child with EVC syndrome. The image shows turbinate hypertrophy, absence and malposition of teethes. EVC, Ellis-van Creveld.

Figure 3

Sleep apneas assessed by cardio-respiratory polygraphy in a case of Noonan syndrome. The figure shows snoring (green line), obstructive apneas (green and blue bands), and desaturations (red bands).

Figure 4

MRI in a child with ACH. Imaging allowed the measurement of three-dimensional volumes of the high airways. MRI, magnetic resonance imaging; ACH, achondroplasia.

Figure 5

Sleep-disordered breathing in a child with Beckwith-Wiedemann syndrome. The figure shows snoring (green vertical lines), obstructive apneas (blue vertical lines), desaturations (red vertical lines). The patter of obstructions and desaturations was distributed in clusters during sleep.