ENT and speech disorders in children with Down's syndrome: an overview of pathophysiology, clinical features, treatments, and current management.
Down's syndrome is the most commonly occurring genetic abnormality, involving about 1 in 600 births. The increasing life expectancy of individuals with Down's syndrome has revealed the presence of several unexpected pathological processes. Among these, ENT disorders hold an important place because of their high incidence and severity. Accurate knowledge of the pathophysiology underlying ENT disorders (facial dysmorphism, ear abnormalities, upper airway abnormalities, and immunodeficiency) allow an understanding of the reasons for the development of the upper airway obstruction, obstructive sleep apnea syndrome, subglottic stenosis, deafness, speech delay, and ENT infections that occur frequently in these children. Early screening and specific treatment may allow some of the long-term sequelae to be avoided, or at least their prognosis to be improved. In order to help health care professionals in their daily practice, this review makes a series of recommendations to allow them to develop a master plan for the ENT management of children with Down's syndrome. In children with Down's syndrome, ENT disorders occur frequently and are often severe. They develop owing to craniofacial, functional, and immune system abnormalities. Early screening and treatment allow improvements in long-term outcomes.
Venail
Frédéric
F
Paediatric ENT Department, CHU Gui de Chauliac, 34925 Montpellier, France.
Gardiner
Quentin
Q
Mondain
Michel
M
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000503:physiopathology / Q000628:therapy; D000402:Airway Obstruction / Q000473:pathology; D002648:Child; D004314:Down Syndrome / Q000150:complications*; D004423:Ear / Q000002:abnormalities; D005145:Face / Q000002:abnormalities; D006311:Hearing Disorders / Q000473:pathology; D006801:Humans; D017410:Practice Guidelines as Topic; D016511:Severe Combined Immunodeficiency / Q000473:pathology; D013064:Speech Disorders / Q000150:complications / Q000175:diagnosis* / Q000628:therapy