© Borgis - New Medicine 4/2007, s. 108-110
Magdalena Frąckiewicz, *Agnieszka Garstecka, Małgorzata Drożniewska1, Mieczysław Chmielik
Laryngological problems in children with Down syndrome
Department of Pediatric Otolaryngology, Medical University of Warsaw, Poland
Head of Department: Prof. Mieczysław Chmielik, MD, PhD
1Department of Clinical Genetics, Nicolaus Copernicus University, Toruń, Poland
Collegium Medicum, Bydgoszcz, Poland
Head of Department: Prof. Olga Haus, MD, PhD
Down syndrome is caused by trisomy of chromosome 21. Patients with this syndrome present many characteristic, phenotypical features. Patients with Down syndrome are more susceptible to infections, more often have congenital malformations of different organs and more often suffer from some chronic diseases and neoplasm. Therefore these patients demand a medical care of doctors from different specialties e.g. pediatrician, cardiologist, endocrinologist, ophthalmologist, orthopedist, otorhinolaryngologist. The most frequent laryngological problems present in children with Down syndrome include hearing loss, prolonging infections of upper respiratory tract and impaired patency of upper respiratory tract that can lead to the sleep apnea syndrome. The majority of authors consider, that patients with Down syndrome should be under systematical laryngological care from infancy. Patients with Down syndrome demand a special care during carrying out diagnostic procedures and an operation because of the general muscular hypotonia and anomalies in cervical part of spinal column, instability in atlanto-axial joint. Nowadays the life expectancy of patients with Down syndrome can even reach up to 50-60 years, therefore slowly we have to stop thinking about the patient with Down syndrome only as a child and start to notice that it can also be an adult.
In 1866 John Langdon Down described a complex of phenotypical features as a separate disease entity which few years later was named Down syndrome. This syndrome is caused by trisomy of chromosome 21. When Down syndrome is suspected, in every case the final diagnosis should be based on genetic research (1-6). All patients with Down syndrome are mentally retarded. However with age β-amyloid accumulates in nervous system what causes the development of Alzheimer disease. About 90% patients before the age of 30 and all patients over 50 will suffer from Alzheimer disease.
β-amyloid is a protein that comes from disintegration of β-amyloid precursor protein (βAPP). It has been discovered that gene of βAPP is located on chromosome 21 and in patients with Down syndrome production of βAPP is increased (1, 4).
Patients with Down syndrome are more susceptible to infections, which often have more severe course and demand an intensive treatment.
Patients with Down syndrome relatively often have congenital malformations of different organs (e.g. 40-60% have congenital heart disease), more often suffer from some chronic diseases and neoplasm. Therefore these patients demand a medical care of doctors from different specialties e.g. pediatrician, cardiologist, endocrinologist, ophthalmologist, orthopedist, otorhinolaryngologist.
The most frequent laryngological problems present in children with Down syndrome include hearing loss, prolonging infections of upper respiratory tract and impaired patency of upper respiratory tract that can lead to the sleep apnea syndrome.
In the majority of children with Down syndrome external acoustic ducts are narrow, strew with delicate, dry and desquamating skin. Usually this narrow external acoustic duct is filled with impacted cerumen. Problems with retention of cerumen and narrow external acoustic ducts may lead to conductive hearing loss (1, 6, 7).
Impaired ventilation of middle ear is encountered in the majority of children with Down syndrome and is caused by characteristic anatomical features and disorders in the proper functioning of the Eustachian tube. Patient´s facial skeleton is flat, nasal canales are narrow and Eustachian tubes are short and narrow. Eustachian tubes open into usually small and shallow nasal part of the pharynx under more acute angle then in healthy children. All these features together with general hypotonia, including also muscles widening the Eustachian tube, lead to the disorders in the middle ear ventilation (8, 9).
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