1.  Increase incidence of hearing loss, airway obstruction and chronic sinusitis.

2.  Increase of VPI after T & A.

3.  10% have instability of the alanto-axial joint.

4.  Increase risks and decreased benefit of T & A.

5. Stapes fixation is relatively common. DO NOT DO STAPEDECTOMY.

Patients with Down syndrome (Trisomy 21) represent 10% of all mentally retarded persons and generally exhibit mild to moderate retardation. It occurs in 1.5/1000 births.1 The otolaryngologist frequently treats patients with Down syndrome because of their repeated upper respiratory tract infections as well as chronic nasal drainage, mouth breathing, snoring, tongue protrusion, and chronic otitis media. Seventy to eighty percent of Down syndrome patients have a hearing loss and most have small ear canals with impacted cerumen. Thus, many of these children may be deprived of auditory stimulation which is needed for speech, language and intellectual development.  Frequently, children with Down syndrome have cardiopulmonary, gastrointestinal, genital, and cranial base abnormalities. Of these problems, cranial base abnormalities coupled with muscular hypotonia11,2 may explain the high incidence of ear nose and throat disorders in these patients.

A major complication of adenotonsillectomy is velopharyngeal incompetence (VPI) resulting in hypernasal speech. The incidence of this complication in the general population is between 1/2000 and 1/3000.3,4  Many articles have been written that describe risk factors that help to forewarn the development of post-operative VPI.5, 6  However, little research has been done regarding adenotonsillectomy in patients with Down syndrome. Clear indications and contraindications for the procedure in Down syndrome patients have not been established.

Benefits of Adenotonsillectomy: The data shown in Figure 2 demonstrates that symptoms decrease as the subjects age increases. Almost all subjects underwent some form of medical or surgical treatment. For example, nasal drainage was treated by antihistamines, antibiotics, sinus washings, antromeatal windows and adenotonsillectomy. Thus, no control group of untreated Down's children existed to access the effect of maturation of craniofacial structures in this investigation.

The three most common symptoms reported in our survey were mouth breathing, nasal drainage and snoring. Mouth breathing was the most resistant to treatment. This may represent habit or difficulty in learning to breathe through the nose after the nasal airway has been established. Nasal drainage was decreased in 62% of the patients who took antihistamines and/or decongestants. However, 49% of the patients developed somnolence or hyperactivity while taking these medications. Antibiotics helped all the patients with purulent nasal drainage. The effect of both of these drugs was often transitory and as symptoms recurred the medication was discontinued. Because of the poor results often obtained with medical treatment alone, many patients had to be treated by adenotonsillectomy (see Tables 2 and 3).

Strome1 reported the results in 16 patients with Down Ssbined procedure (10 patients). His data was obtained from parental follow-up in a prospective study. He reported that the primary indication for adenoidectomy and adenotonsillectomy was difficulty in breathing, often with rhinorrhea. None of the patients parents reported improvement in nasal respiration following adenoidectomy and only one reported "equivocal" improvement in rhinorrhea. He concluded that "there appears to be little justification for the procedure (adenoidectomy)" and little benefit from tonsillectomy except for oral obstruction in selected patients1. Strome also noted that the amount of adenoid tissue surgically removed appeared small in these cases. These and other observations regarding the relative size of the adenoid pad and volume of the naso-pharynx have provided conflicting information about the physiological significance of the adenoid in children with Down syndrome.

Data from the UTCHS study does not support Strome's findings. As with Strome's study, the majority of the UTCHS subjects underwent an adenotonsillectomy. The 21 parents of children with Down syndrome who underwent adenoidectomy and/or tonsillectomy reported improvement or cure of sleep apnea in 83% (n=6), of mouth breathing in-55% (n=20), of snoring in 81% (n=16), and of nasal drainage in 75% of patients (n=9). The airway obstructive symptoms may have resulted from a narrowed oral pharynx.1 Children with Down syndrome commonly have relatively large protruding tonsils which can cause obstruction. Tonsillectomy alone may be beneficial in selective patients. This was the case in both of our subjects who had only tonsillectomy.

Differences between the UTCHS survey and Strome's1 may result from the small numbers of subjects used in each study and to differences in severity of rhinological disorders in Southern and New England climates. It could also be argued that the improved category in the UTCHS study actually represented the natural improvement in these symptoms which occurred as the patients grew older (see Figure 2). For this reason, the telephone interview which followed the written responses helped to insure that the reponses of improvement represented an abrupt change attributed to the operation, rather than the slow progressive improvement seen as the patient grows older.

The UTCHS Down syndrome parents reported that the symptoms of drooling and tongue protrusion also decreased as their children got older. None of the children who drooled had a decrease or loss of this symptom after adenotonsillectomy. Only 5 of 13 patients showed improvement in their tongue carriage. This improvement, when it occurs, may be due to relief of nasal airway obstruction rather than removal of a posterior tonsillar mass causing anterior carriage of the tongue. This is supported by Yip and Cleall8 who found that the normal resting position of the tongue's tip did not protrude beyond the incisal edge in patients with Down syndrome and by several authors1,8 who demonstrated only a small decrease in tonguing after tonsillectomy.

Risks of-Adenotonsillectomy: The effect of adenotonsillectomy on the velar closure in children with the Down Syndrome is not known. Several studies have noted the occurrence of post-adenoidectomy hypernasality in a mentally retarded patient.3,9 However, no in depth case report or information regarding the cause and incidence of the complication could be found in the literature. In the present study, four of the twenty-one patients surveyed developed post-operative VPI. In two patients, nasopharyngeal incompetence existed for three weeks post-adenotonsillectomy as evidenced by food getting into the nose.  Morris, et. al.10 considered cases like these representative of mild forms of VPI and not the normal post-operative course. Two other patients developed marked persistent hypernasal speech. In these latter patients, both structural and-functional abnormalities were identified.

Both of the patients that were studied in detail exhibited the intraoral and skull base abnormalities, as well as the muscular hypotonia that has been previously described in the literature.1,2,11-13 The patients were found to have a short soft palate with a slightly anterior velar dimple. The anterior-posterior dimension of the nasopharynx was not particularly shortened, giving rise to a structural insufficiency during soft palatal closure. Functional factors included immature and delayed motor development which was demonstrated while performing a variety of articulatory tasks.  Slowed motor learning was also present, as demonstrated by the marked improvement in the velar function after speech therapy described in Case 2.

The clinician must be alerted to the likelihood that the patient with Down-syndrome is at higher risk for the development of post-operative hypernasality than the normal population. Diagnosis of this complication may be difficult. These patients have pre-existing speech abnormalities2,14 which may mask the development of hypernasality for the untrained clinician.

Treatment should initially consist of intense speech and language therapy to stimulate language and speech development, and improve motor coordination of the speech mechanism. Physiological compensation, with formation of a Passavant's Pad, can result from these efforts (see Case 1). Surgical treatment of VPI should be approached cautiously because of the narrower than normal oral pharynx1 giving rise to the possibility of post-operative airway obstruction. Surgery should be considered when anatomical and/or physiological insufficiencies are evident and compensatory training is insufficient to compensate for natural obturation of the velopharyngeal portal.

Several authors have reported cervical spine instability at the alanto-axizl joint in 10-20% of children with the Down Syndrome.15,16,17 The clinical significance of this is not fully understood. Intubation and mouth gag suspension places great stress on the cervical spine of these patients which could cause neurological sequelae. Although such a complication has never been reported, it would be prudent to have children with Down syndrome screened for this instability before attempting adenotonsillectomy.
 
 
 

Recommendations:

Parents must be told of the possibilities of VPI as a post-operative complication of  adenotonsillectomy.  The incidence of VPI after adenotonsillectomy appears to be  higher than in the normal population.

Before adenoidectomy is performed, a lateral X-ray view of the adenoid pad for  cephalometric examination should be obtained.  If the patient is cooperative,  cinefluoroscopy should be done.

Inspection of the palate and adenoid pad should be done intraoperatively, especially if a good preoperative evaluation could not be obtained. The parents should be told that a definitive decision on performing the operation will not be done until after this inspection,

Severe nasal obstruction or sleep apnea is an indication for adenoidectomy if the adenoid pad is felt to be causing the obstruction. It should be remembered that these patients can also have a constricted oral pharynx with obstructing tonsils.

ln the absence of oral-nasal obstructive symptoms, we do not recommend  performing a tonsillectomy or adenoidectomy for drooling and tongue thrusting in  the Down's population.

A lateral adenoidectomy is indicated for chronic serous otitis media, if the adenoid  is felt to be causing eustachian tube obstruction.

An adenoidectomy is not indicated for clear nasal drainage.

Chronic purulent nasal drainage is a relative indication, and risk versus benefits must be weighed in close consultation with the parents. Patients should be treated medically with several courses of antibiotics before resorting to operative intervention. The sinuses should also be evaluated and if sinusitis is present, sinus irrigations and antromeatal windows should be considered.

Patients with frequent episodes of recurrent pharyngitis should be treated with  tonsillectomy alone. The same operative indications for normal children should be used18.

Tonsillectomy alone may also improve the oral-nasal airway and would not be expected to have as high an incidence of post-operative VPI as adenoidectomy. 

All patients should undergo radiological screening for cervical spine instabilily before an adenotonsillectomy is performed.

In Shelby County (Population of 800,000) 20,000 to 30.000 individua1s suffer from some form of mental retardation. Hearing tests are extremely difficult to perform on the mentally retarded. These patients frequently do not understand instructions and therefore cannot participate in basic medical and audiologic evaluations.  Despite the difficulties encountered, an accurate appraisal of the patient's auditory functioning is of vital importance.  A hearing loss will severely hamper the acquisition of speech and language, result in an artificially low IQ score, delay emotional development and cause poor interpersonal relationships in an otherwise normal child.  It has been shown that proper intervention involving the use of hearing aids can reverse the delay of speech and language development in the normal child.  The impact of hearing loss on the mentally handicapped is not well known, but it is thought by many investigators to be qualitatively similar to that in the normal population but considerably more severe in impact.

Many etiologies of mental disabilities are associated with base of skull, outer ear or palatal (roof of mouth) abnormalities all of which put these patient at risk for having or developing a hearing loss. It is very likely that early auditory intervention could prevent institutionalization in a percentage of these patients. Unfortunately. not all mentally handicapped patients with hearing loss are diagnosed. This reflects both difficulties in the otologie and audiologic exams of young handicapped children and a frequently non-aggressive attitude of clinicians regarding hearing loss in these patients. The end result is a child who has undergone many years of early auditory deprivation and has missed many milestones of language acquisition.

Trisomy 21 is responsible for 10% of all mental handicaps.  It is associated with cranial facial abnormalities and 73 to 78% of the patients have an associated hearing loss. Forty-one to sixty-five percent of all persons with the Down Syndrome have a conductive loss which is potentially correctable by surgery. The most common loss of this type is Chronic Serious Otitis Media (fluid in ear) which may require insertion of ventilation tubes to correct the disorder. The remainder (13-36% of the total population or children with the Down Syndrome) have either an inner ear (nerve) or mixed hearing loss. The results of a poll of The Down Parents of Memphis Organization is shown in the above figure. Over 50% of the children had a significant hearing loss diagnosed or treated. Of interest many patients underwent auditory testing late in life (after one year of age), 15% of patients were never tested at all, and only 59% of patients underwent auditory evoked response testing. The latter is a test which measures brain waves to sound and is the most reliable way of diagnosing a nerve loss in early. childhood.  The lack of comprehensive testing may explain the low incidence of nerve and mixed hearing losses (8%) reported in the survey.

The following guidelines should be followed:

All patients with the Down Syndrome should be checked for a hearing loss at approximately age 6-12 months of age. It should be remembered that a normal child starts to say words around 12 months of age and imitates sounds before this. An untreated hearing loss during thc first year of life will hinder this process. 

If an accurate auditory testing cannot be obtained on the child Auditory Evoked Response testing should be performed.

Delayed language milestones should not be attributed solely to mental handicaps. Have your child's hearing tested.

Tympanometery (pressure testing to detect fluid in ears) is valuable but is in itself an incomplete evaluation. This test does not accurately diagnose abnormalities of the middle ear bones or nerve loss. Both of these type of hearing losses are commonly found in children with the Down Syndrome.

Otolaryngology and Head and Neck Surgery. May-June. 1979.
 
 

60% of patients with the Down Syndrome have greater than 15 dB hearing loss

                        13% sensorineural

                        87% conductive

                        40% ossicular abnormalities

                        60% Eustachian tube dysfunction

Therefore, 12% have ossicular abnormalities, most due to mesynchmal presence or abnormal stapes.  The stapes has a large post. crus, not neck and thin-small anterior crus.  Rarely do you get an improvement with stapedectomy.  The sensorinerual loss rarely has cochlear abnormalities.  Do not find perilymph guishers or malleal fixation.