© 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
Summary
Summary
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.
INTRODUCTION
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).
Chronic dysfunction of Eustachian tubes and disturbance in the ventilation of middle ear, increased frequency of upper respiratory tract infections and difficulties with heeling these infections expose the patients with Down syndrome on recurrent acute otitis media, impede the treatment and lead to the development of otitis media with effusion. If the disorders concerning the middle ear are not treated quite often may lead to the development of chronic otitis media with cholesteatoma. Conductive hearing loss connected with the pathology of the middle ear is diagnosed in about 0,5-2% children without Down syndrome and in about 38-83% children with Down syndrome, in whom hearing loss is thought to be the main factor responsible for speech retardation. The difference of percentage in patients with hearing loss results from different age of researched persons. Conductive hearing loss connected with the pathology of the middle and external ear occur mainly in younger patients whereas the sensorineural hearing loss occurs mainly in older patients. It is the consequence of degenerative changes present in Corti´s organ, the development of Alzheimer disease and degenerative changes in central neuronal system. The majority of authors consider, that patients with Down syndrome should be under systematical laryngological care from infancy. Children with extremely narrow external acoustic ducts are recommended to be examined every 3 months and the control hearing examinations (pure tone audiometry, behavioral and objective audiometry depending on the age and the level of children development) should be done systematically in all children with Down syndrome. When the diagnosis of conductive hearing loss is done, intensive pharmacological and surgical treatment should be started (4, 7, 10, 11).
Scott and colleagues consider that in the course of otitis media with effusion lasting up to 2-3 months or recurrent acute otitis media (3 or more episodes of acute otitis media during one year) patient with Down syndrome requires PET placement. This procedure prevent from development of conductive hearing loss. The recurrence of otitis media with effusion after extruding of spool-like tubes is an indication for another drainage of tympanic cavities (12). According to Iino, in children with Down syndrome in comparison to the control group more often complications of otitis media with effusion such as atelectatic eardrum, perforation of the eardrum and cholesteatoma occur (13).
Oral and nasal parts of pharynx in patients with Down syndrome are narrow and shallow, posterior nares often are slit-like. Even a small pharyngeal tonsil may cause nasal obstruction, conduce to sinonasal infections, cause an increase in the frequency of otitis media and conduce to otitis media with effusion. From Price´s observation comes out that in children with Down syndrome adenoidectomy (with or without tonsillectomy) improves the nasal patency in 50,0% of patients, eliminates mouth breathing in 40,9%, snoring in 40,9% and only in 23,1% cause regression of disorders in Eustachian tube patency and improvement of hearing. Patients with Down syndrome 7,7 times more often than patients from control group needed ear drainage. Adenoidectomy (with or without tonsillectomy) conducted in patients from control group without Down syndrome improve nasal patency accordingly in 86,7% of patients, eliminated mouth breathing in 84,1%, snoring in 73,2% and in 68,0% had a positive influence on treatment of middle ear pathology and hearing improvement. Nasal obstruction led to mouth breathing, snoring and even to the development of sleep apnea syndrome. Only in 20% patients with Down syndrome and sleep apnea syndrome adenoidectomy caused regression of apnea, whereas right up to in 90.0% patients from control group with sleep apnea syndrome it receded after surgical treatment (11). Relatively low percentage of the patients with Down syndrome, in whom after operation the sleep apnea syndrome recedes may be caused by the presence of muscular hypotonia, obesity and craniofacial anomalies that decrease the space of oral cavity and pharynx. Bower and colleagues in their material received the regression of sleep apnea in 69% patients with Down syndrome after adenoidectomy, or adenoidectomy with tonsillectomy, depending from indications to operation (14).
Many authors consider that operations of patients with Down syndrome, considering the higher perioperative risk, should be conducted in hospital, where intensive care unit is available (6, 8, 11, 14).
In children with Down syndrome the symptoms of laryngotracheomalatia may be present as a consequence of muscular hypotonia and laryngeal cartilages hypoplasia. Also the subglottic stenosis is present more often than in healthy children. In 94% cases, patients with subglottic stenosis were intubated earlier. Subglottic stenosis demand a surgical treatment (6, 15).
A laryngologist during carrying out diagnostic procedures and when placing the patient on the operating table is obliged to remember that about 25% persons with Down syndrome have anomalies in cervical part of spinal column, instability in atlanto-axial joint that can lead to the traumas of spinal cord with all consequences. Therefore a special caution during moving a head of the patient who is under general anesthesia, avoidance in putting it backwards and aside (16). During last few years due to the progress of medicine the average life expectancy of patients with Down syndrome has elongated. Nowadays it is estimated that 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 (3).
Piśmiennictwo
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