Congenital Aural Atresia
Aural atresia refers to a failure of the ear canal to develop and open properly. Patients may or may not have a normal outer ear, but do not have a patent ear canal and do not have a normal eardrum.
In many cases of microtia or aural atresia, the inner ear hearing structures have formed normally, and nerve hearing levels may be normal. In such cases, a child’s hearing loss will likely be conductive in nature since sounds cannot be transmitted to the inner ear efficiently. It is not uncommon for the middle ear structures to be affected (abnormally developed) when the external ear is affected. Structures such as the ear canal, the eardrum and the middle ear hearing bones are often underdeveloped, fused or absent.
Evaluation for microtia and aural atresia often involve a comprehensive examination, audiologic testing and imaging studies (e.g., CT scan) to evaluate the middle and inner ear structures.
Since these congenital abnormalities are usually noticed at birth, early management concepts include ensuring that a child’s hearing is normal in at least one ear (or both ears are adequately amplified) such that communication skills develop. Any type of hearing restoration or ear reconstruction (if desired by the family) is usually delayed until the baby is older − for functional, aesthetic and patient safety considerations.
Newborns are obliged to breathe through their nose. After several months, they develop an ability to breathe through both the mouth and nose. Whenever the posterior aspect of the nasal passages does not open during development, known as choanal atresia, children typically develop significant respiratory distress.
The condition can be on either one or both sides. When it is one-sided, children often present with a prolonged history of one-sided nasal drainage and not much in the way of nasal obstruction. In contrast, children with bilateral choanal atresia generally present with significant respiratory distress that is relieved only by crying and mouth breathing. When either is suspected, the inability of a physician to pass a catheter through the nose will lead on to suspect the condition. A CT scan can be obtained to confirm the diagnosis.
Once this has been accomplished, definitive surgical repair may take place either through the mouth or the nose, depending on the severity of the condition. Prior to the repair, placement of an oral airway may be helpful in “buying time” until surgery. Oftentimes, children with choanal atresia have other congenital abnormalities. Consultation with a genetics expert should be considered.
Although complete tracheal rings are extremely rare, they are still the most common cause of congenital tracheal stenosis. Complete tracheal rings (or “O” rings) are always smaller than normal “C”-shaped rings and may severely compromise a child’s airway. While some children with complete rings will have a large enough airway not to need surgery, more than 80 percent will need an operation to correct the narrowing of the airway.
Children with a narrow trachea due to complete tracheal rings usually have noisy breathing that gets worse as they grow. The noise classically sounds like they have something to cough up, but can’t (“washing machine” breathing). Children may also retract as they breathe, and when the condition is severe, may have near-death experiences. More than 50 percent of children with complete rings have other congenital anomalies. Often there are heart or other vascular abnormalities, and these may need to be fixed at the same time as the airway.
Some children with few symptoms do not need urgent surgery. We monitor several such children, some for as long as 16 years, and a proportion will never need surgery. Some will require surgery later, but the operation is easier in a bigger child. However, most children need urgent surgery, especially if they present as a baby. Surgical correction is a highly specialized area, usually requiring a team approach. There are several possible operations, but in our hands, the slide tracheoplasty (which shortens the trachea, but makes it much wider) has been the most successful. In 2001, we performed six successful slide tracheoplasties. In some cases the trachea can be repaired through a neck incision, but more commonly the airway repair requires a sternotomy, with the child placed on cardiopulmonary bypass.
One out of every 2,000 children born in the United States has moderate or worse hearing loss, making congenital hearing loss one of the most common birth defects. Of these cases, half will have a genetic / hereditary basis to their deafness. Therefore, the study of genes involved in hearing and deafness is crucial to our understanding and care of children with hearing loss.
After a hearing loss has been identified in a child, a comprehensive evaluation is begun to seek the cause. Most cases of hearing loss are from an obvious cause (e.g., ear infections) and no further diagnostic testing is needed. In most cases of sensorineural hearing loss, the cause is not obviously known and an ear specialist (pediatric otologist) will take a thorough medical history and perform a physical examination. Many factors can cause SNHL, with genetic causes accounting for more than 50 percent of cases. Nongenetic (hereditary) factors that can be identified include infections (meningitis, cytomegalovirus, syphilis), hyperbilirubinemia (jaundice at birth), medications (aminoglycoside antibiotics and cisplatin chemotherapy), trauma (skull fractures), immune dysfunction (autoimmune inner ear disease) and blood dyscrasias (hypercoagulable states, sickle cell disease).
The appropriate evaluation for children diagnosed has long been controversial. It is well accepted that talking with and examining child and family are the most important tools to determine the cause of hearing loss. Many of the syndromes associated with SNHL can be diagnosed in this fashion. Further testing remains controversial. The debate centers on the yield and cost-effectiveness of specific tests in contrast with the risks of failing to identify a potentially significant disorder. Possible diagnostic tests include various urine and blood tests, electrocardiograms and imaging studies. Recent studies have suggested that the high-resolution CT scan (“CAT scan”) may identify the reason for the SNHL in 15 percent of cases.
Genetic testing is a process by which one’s unique genetic code is determined to discover the cause of a particular disorder. Currently, three genes are available for routine screening, and as technology and our knowledge improve, complete panels of all deafness related genes will be realized. Approximately one-third of all children with significant hearing loss will be positive for testing for the GJB2 gene (or Connexin 26). It is now recommended that all children with hearing impairment be screened with this simple blood test. Besides being able to diagnose many of these children with a single test, this may prevent the need for other time-consuming and expensive tests.
Hearing impairment, or “deafness,” is actually fairly common in the United States. Hearing impairment − from the typical “age-related hearing impairment,” to noise-induced hearing loss, and even congenital hearing impairment − affects a significant number of Americans every year.
Hearing can be impaired by numerous factors. From a clinical standpoint, hearing impairment is usually broken down into conductive (i.e., mechanical) or sensorineural (i.e., nerve) hearing loss. A conductive hearing loss is due to abnormal transmission of sound energy through the external and middle ears. As an example, ear wax or a foreign body in the ear canal can mechanically block the transmission of sound to the inner ear. Similarly, fluid in the middle ear space or a defect in the eardrum can cause decreased transmission of sound through the ear. Such conductive hearing losses can routinely be addressed to improve hearing sensitivity (e.g., clean the ear canal of wax or repair an eardrum perforation). In contrast, a sensorineural hearing impairment is usually irreversible. In the vast majority of these cases, hearing loss is due to problems of either the cells of the inner ear (so-called hair cells) or the hearing nerves themselves. It’s relevant to note that people are born with a fixed number of hair cells in their inner ears and do not “regenerate” or grow new hair cells after damage. As a result, it is nearly impossible to recover nerve hearing either medically or surgically.
A common inquiry from patients and their families is to describe how much hearing loss a person has sustained. Patients commonly want to know if they have a “50 percent hearing loss” or “80 percent hearing loss,” for example. However, hearing loss is rarely well described using such terms. To illustrate why, it is necessary to understand that most people can hear sounds from a very low frequency (i.e., low-pitch sounds) to very high frequencies (i.e., high-pitch sounds). People with normal hearing thresholds can typically hear tones as soft as 20 decibels. In contrast, people with hearing impairment need louder tones (25 decibels or greater) to hear them. In many cases of hearing loss, individuals do not show an equal hearing loss across all the frequencies or pitches. Instead, patients may show a selective high-frequency hearing loss with normal hearing in the lower frequencies (as might be seen in age-related hearing loss). Or conversely, some individuals might show poor hearing in the low frequencies with more normal hearing in the higher frequencies (as might be seen in diseases such as Meniere’s disease). Accordingly, when a patient’s hearing loss is not “flat,” or equal, across all the frequencies, it is difficult to describe that type of hearing loss as a single percentage. Routine audiologic tests (hearing tests) assess a person’s hearing across all these frequencies to get a better understanding of a person’s hearing level.
Children with Down syndrome will commonly have ear, nose and throat problems. This includes chronic ear infections and hearing loss, an increased incidence of upper respiratory tract infections and sinus infections, as well as problems with airway obstruction and sleep abnormalities.
It is important to be aware of these common ENT problems and to treat them aggressively and not just accept that they are “part of Down syndrome.” About 40 percent of children with Down syndrome have very small ear canals, making diagnosis of ear infections difficult. If your child has very small ear canals, and your primary care physician cannot see the eardrums, a referral should be made to an ENT doctor for evaluation. We have special instruments to assist with examination of even the smallest ear canals. Ear infections should be treated with both antibiotics and pressure equalizer tube (PET) placement if the infections do not resolve. Hearing levels need to be followed closely with an auditory brain stem hearing test (ABR) at birth and then audiograms (hearing tests) every six months until your child is able to have the right and left ear tested separately.
Sinus infections usually respond to antibiotics, but it is important to eliminate risk factors that can trigger the infections such as cigarette smoke and large day care classes. Allergies should be considered also.
Studies are showing that sleep abnormalities are much more common in children with Down syndrome than previously thought. A formal evaluation of your child’s sleep should be done around age 7, even if you think his or her sleep is OK. If there are signs of obstructions (snoring, restless sleep, odd sleeping positions, struggling to breathe during sleep, pauses in the breathing), an evaluation by an ENT doctor should be done right away.
Under normal conditions the mouth produces a teaspoon of saliva every five minutes. Saliva keeps the mouth moist, initiates food digestion and helps fight infections. Saliva is produced by four large glands and hundreds of small glands throughout the lining of the mouth. Two of the large glands, the parotid glands, are in front of the ears, in the soft tissues of the cheek. The other two large glands, the submandibular glands, are in the neck, on either side of the chin. The saliva produced by the glands empties into the mouth by the way of a duct or tube. The parotid and submandibular glands produce most of the saliva generated in the mouth. The small glands, or minor salivary glands, located throughout the lining of the mouth, are responsible for generating a small fraction of the total saliva.
Saliva is swallowed periodically and unconsciously, so that this fluid does not accumulate in the mouth. However, saliva can accumulate if the glands produce too much, or if the saliva is not periodically swallowed. When saliva accumulates in the mouth, it eventually spills over the lips and onto the chin. This is defined as drooling. Children with neurological problems are often unable to periodically swallow their saliva, and in these kids, drooling becomes a chronic problem. The excess saliva can even drain down the back of the tongue into the airway and lungs, instead of the stomach, causing a continuous cough.
The treatment for drooling is to surgically reduce the amount of saliva produced. This is accomplished by removing the submandibular glands from the neck through a small incision on either side of the chin. Additionally, the duct emptying the saliva from the parotid glands, found easily on the inside of the mouth next to the molars, is sewn closed. This operation successfully reduces drooling in the majority of children.
Other than well-child care, the most common reason that children see a physician is for treatment of otitis media (middle ear infections). Though ear infections often start with a viral upper respiratory tract infection, bacterial organisms frequently are involved. Signs and symptoms of an ear infection include fever, irritability, pain, tugging at the ear, loss of balance and lack of hearing, with the presence of fluid leaking from the ear canal. These infections should be differentiated from external otitis, or swimmer’s ear, an infection of the external ear canal.
Though treatment usually involves administration of antibiotics, recent studies indicate that observation without medical therapy may be appropriate in some children. When ear infections are recurrent or if the fluid associated with the infection does not clear, ventilating tube placement may be appropriate. Additionally, removal of the adenoids may be helpful in some children who have had repeated problems or who have severe nasal obstruction. Recurrent or chronic problems may prompt a visit to an ear, nose and throat physician where a hearing test may be obtained as part of the standard evaluation of the child.
Facial Plastic Surgery
There are many conditions that call for plastic surgery in children. While today’s culture may think of plastic surgery as a way to simply improve one’s appearance, in children, plastic surgery may be needed to correct important functional deformities that may have been caused by anomalous growth before birth. For instance, if a child is born with a very small malformed ear or without any external ear, reconstruction of the ear is needed to provide better hearing in addition to correcting the cosmetic problem. Children born with cleft lips or cleft palates, or both, need surgical correction to improve not only their appearance, but also to allow proper feeding and speaking abilities. Some children may be born with an abnormal nose with obstruction from this abnormality. Reconstructive surgery is needed to correct both the cosmetic problem but also the airway obstruction associated with it. Newborns know only how to breathe through their noses, and obstruction of the nose in a newborn can be very serious.
Some children are born with abnormal functioning in the palate such that they are unable to close off their nasal airway from their oral airway when they speak. This is a condition called velopharyngeal insufficiency and results in nasal sounding speech, sometimes to the point of being very difficult to understand. It is more frequent in children who have required a cleft palate repair. Although the opening in the palate is surgically closed, the palate may still not function correctly, and further intervention is needed.
Other times when plastic surgery may be needed, not necessarily at birth, include the need for scar revisions on the face or neck due to poorly healing wounds, commonly from trauma. Although there will still be a scar, its appearance can be minimized.
Otoplasty, or correction of external ear deformities, is commonly done. Because the ears form from six different mounds of tissue, called hillocks, there can be variation in the way that the ears look, and abnormalities can range from very minor to quite severe. This is most commonly seen in children with absence of the upper creases in the ear (the posterior and anterior crus of the antihelix), resulting in an ear that sticks out. Surgery is done to reconstruct the missing folds, resulting in the ears being pulled back toward the head.
Rhinoplasty, or nasal reconstruction, and septorhinoplasty, if combined with surgery on the nasal septum, can be done to improve one’s appearance. However, this surgery is also needed in cases where the nasal deformity is contributing to nasal obstruction, and nasal breathing function is being affected.
When considering plastic surgery for your child, it is important to understand that function must come before appearance. It doesn’t matter how good the nose looks if your child can’t breathe. It is therefore important to discuss the issues of both appearance and function with your surgeon. Limitations in both regards must also be discussed prior to the surgery.
Some surgeries need to be done when the child is quite young. In others, it is better to wait until the child is older. The pro’s and con’s of timing of the surgery also need to be discussed with your surgeon. Issues of facial growth that might be altered by the surgery, vs. poor function, vs. the emotional factors associated with a deformity must be considered.
Head and Neck Tumors
Head and neck tumors in children are relatively rare. They may be classified as malignant vs. benign, or tumors of childhood vs. tumors that are also seen in adults. Benign tumors of childhood include hemangiomas, lymphangiomas, juvenile nasopharyngeal angiofibromas (causing nasal blockage) and a variety of congenital neck cysts. Malignant tumors characteristic of childhood include rhabdomyosarcomas and lymphomas.
As with all tumors, there are four main modalities of treatment. Some tumors will naturally involute (e.g., hemangiomas), and nothing may need to be done. Some tumors require excision, particularly benign tumors. Some tumors require chemotherapy or radiotherapy, usually malignant tumors. Of course there is overlap between all these groups, and some tumors require more than one form of treatment.
There are many sorts of laryngeal stenosis, with the most common being airway narrowing just below the vocal cords (subglottic stenosis). This may be a problem a child is born with, but more commonly it results from scarring caused by intubation. Very premature babies who are intubated for many weeks are at particular risk. Mild subglottic stenosis may have few symptoms. Moderate narrowing may cause noisy breathing (stridor) and may limit activities as the child gets short of breath. In babies there may be feeding problems. Severe subglottic stenosis usually requires a tracheotomy tube to allow the child to breathe. The voice is usually normal unless the stenosis is very severe or complete. Other causes of laryngeal stenosis include laryngeal atresia and laryngeal webs (affecting the vocal cords and voice).
Children with subglottic stenosis often have other problems. These include lung problems (like BPD needing oxygen), gastric reflux problems and feeding problems. It is important that any other problems are taken into consideration when treatment of subglottic stenosis is planned. For children with many problems, we take an interdisciplinary approach to treatment (see Aerodigestive and Sleep Center) and try to optimize a child’s health before we correct subglottic stenosis.
All forms of laryngeal stenosis can be improved, but some children may not need surgery, and in some cases surgery is better delayed. Our unit has performed more laryngeal reconstructions than any other and has particular expertise in managing the very complex airway. There are two main operations used to correct subglottic stenosis − laryngotracheal reconstruction (LTR) and cricotracheal resection (CTR). Laryngotracheal reconstruction increases the size of the airway by inserting cartilage grafts (usually from a rib). Our unit developed this operation in the 1970s, and we have performed more than 1,000 LTRs. Cricotracheal resection is more technically challenging and required for more severe stenosis. We have performed more than 70 CTRs in children.
Laryngomalacia is the most common congenital cause of noisy breathing, or stridor, in the newborn. Laryngomalacia describes a condition where the tissues of the larynx (the voice box), above the vocal cords, are soft or floppy. When a baby with laryngomalacia breathes, these floppy tissues may fall over the vocal cords and partially block the opening into the windpipe or trachea. This results usually in a high-pitched, fluttery inspiratory noise. It can be worse when the baby cries or eats.
Laryngomalacia is believed to represent an immaturity of the tissues of the larynx. Diagnosis is most easily done by a flexible laryngoscopy in the office. A small, flexible fiber-optic telescope is used to visualize the larynx and the vocal cords to see if there is any collapse of the tissues just above the vocal cords.
In the majority of cases, laryngomalacia resolves on its own without specific treatment. The tissues of the larynx become more firm as the child grows, and the stridor usually resolves slowly over the child’s first 18 months of life. The stridor may be worse with feeding because of the increase in negative inspiratory pressures associated with sucking, and it is suggested that feeding be done slowly, allowing the child frequent rest periods. In a small percentage of children with laryngomalacia, the obstruction caused by the collapsing tissues is more severe. This can result in poor weight gain because the baby is unable to eat without developing airway obstruction. It can also cause severe oxygenation problems and even heart complications. In these more severe cases, surgery may be needed to trim away some of the collapsing tissue.
The development of the larynx, or “voice box,” is a complex process. The result of normal development is a larynx that is completely separated from the esophagus “food pipe.” This separation is important, so that when we swallow food, the food particles go down the esophagus and not into the larynx. Sometimes, for unknown reasons, the larynx does not develop properly. One abnormality that can arise is a laryngeal cleft, which is a defect in the separation between the larynx and esophagus. In other words, there is a communication or opening between the larynx and esophagus. This communication can range from small to large and can allow food to pass into the larynx, trachea (“air pipe”) and lungs. This leads to problems swallowing, chronic cough and lung disease.
If the laryngeal cleft is small and the child does not have problems with feeding or aspiration (food going into the lungs), then the child can simply be observed. However, in most cases the laryngeal cleft is a problem and has to be surgically closed. The most common procedure for the repair of a laryngeal cleft involves making an incision in the neck, opening up the larynx and suturing the laryngeal cleft.
Microtia refers to abnormalities of the external ear (the pinna or auricle) due to abnormal development of the ear during gestation. Since these portions of the external ear are forming during the end of the first trimester of pregnancy, it is believed that some kind of altered development during this time is responsible for ear malformations. While a few specific causes for abnormal development have been identified (rubella infection, abnormal vitamin A levels during pregnancy, some hereditary conditions), the cause in a majority of cases is likely unidentifiable. Microtia can affect either one or both ears and can occur along with other congenital (present at birth) abnormalities (cleft lip or palate, jaw and facial abnormalities).
Nasal obstruction is of particular concern in newborns. At birth, the child knows only how to breathe through his or her nose. Breathing through one’s mouth is a “learned” behavior that develops over the first 6 months of age. Total obstruction of the nose can lead to very serious complications in the newborn, even death. Therefore, one of the first procedures done in the delivery room is to suction the child’s nose. This clears the nasal passages of any secretions, but more important, confirms that the nasal passages are open. Whereas total obstruction is a very serious condition, partial obstruction can cause difficulties breathing and eating.
One of the most common causes of nasal obstruction in the newborn is due to dried secretions or crusts in the nose. This is a common problem in the winter months when the humidity is low. In addition, some of the hormonal changes that occur in the mother with pregnancy that cause nasal swelling can also affect the child, who also has swelling of the nasal tissues.
The endoscopic swallow study is just one way to assess the safety and integrity of the swallow mechanism. It defines the anatomy and demonstrates the safety of swallowing. It is useful in those patients who will not accept food into their mouth. It is also helpful in patients where questions of aspiration of saliva are being considered. It is also useful as a preoperative evaluation prior to the reconstruction of the airway to predict which patients will be at risk for aspiration during the postoperative period.
Nasal obstruction could also be due to choanal atresia or stenosis, a condition where the posterior openings of the nose do not form correctly. Nasal obstruction can be caused by a crooked nasal septum. In the newborn, this may occur if the nose is compressed coming down the birth canal. The nasal septum may also become deviated from trauma (falls or getting hit in the nose) or may simply grow crooked as the facial bones develop. Nasal septal hematomas, or blood accumulating under the tissue layers of the nasal septal cartilage, can occur similarly from nasal trauma.
Obstruction of the nose can also be caused from masses or growths in the nose. This can include nasolacrimal duct cysts, where the distal opening of the tube draining the tears into the nose doesn’t open. There can be abnormal vascular growths in the nose, including hemangiomas. Because the brain is just superior to the nose, abnormal brain tissue can sometimes be found in the nose.
One of the more common causes of nasal obstruction in the 3- to 4-year-old child is from a foreign body in the nose. The child frequently presents with nasal drainage and obstruction on just one side of the nose. In addition, adenoid growth can cause blockage of the nasal airway.
Examination and evaluation of the cause of the nasal obstruction must first be done. If a foreign object, such as a piece of a toy or a bead is seen, simple removal is done. If the obstruction is due to dried secretions in the nose, the use of saline nose drops, three to four times per day, will help clear the nasal passages. Swelling due to hormonal effects from the mother usually goes away within the first few days after birth and can also be treated with saline drops. Occasionally, a short course of steroid nose drops is needed.
If there is obstruction due to dislocation of the nasal septum at birth, the otolaryngologist can replace the septum to the midline position where it belongs. It is important to recognize this within the first days after birth, before scar tissue forms, holding the septum in its new location. If there is obstruction due to accumulation of blood under the lining tissues of the septum, this needs drainage immediately.
Evaluation of obstruction caused by the adenoids (the tonsil tissue sitting in the nasopharynx behind the nose) can be done either with a flexible telescope or by an X-ray of the area.
Although we have very small flexible telescopes to look into the nose, evaluation of total nasal obstruction or nasal masses usually requires a CT scan. The CT scan helps define the cause of the obstruction or the mass, and a treatment plan can be made.
Newborn Airway Disorders
There are many forms of airway problems that may affect babies. These may range from nasal blockage to tracheal stenosis (see choanal atresia, nasal obstruction, laryngomalacia, laryngeal stenosis, tracheal stenosis and complete tracheal rings). Newborns have not yet learned to breathe through the mouth, so nasal blockage may cause severe airway problems and may even be life threatening. The most common cause of noisy breathing in a baby is laryngomalacia, a condition most babies grow out of without surgery. However, many of the other causes of breathing problems are more severe and important, even though they may sound very similar. We recommend that an expert (pediatrician, ENT surgeon, pediatric pulmonologist, pediatric ENT surgeon) assess any baby with noisy breathing or an airway problem.
Symptoms of neonatal airway problems include apnea, cyanosis (blue spells), noisy breathing, retractions, an abnormal cry and feeding difficulties (feeding is the most strenuous activity for a baby). Some babies need to be intubated at birth, and may have difficulty with removal of the tube (extubation). This may be due to airway problems, or other underlying health problems.
Some problems improve with growth and time, while others will require surgery. Some children require placement of a tracheotomy tube. While often the tracheotomy may be removed in the future, it may require an operation in some children, and in others should not be removed.
Respiratory papillomatosis is the most common tumor of the upper airway in the pediatric patient. It is estimated that four out of 1,000 children under 14 years of age have laryngeal papillomatosis. This equates to approximately 2,500 new cases and 6,000 active cases per year in the United States.
The most common symptoms associated with laryngeal papilloma are hoarseness and change of voice quality. Difficulty with breathing may also be present although acute respiratory distress is rare because of the gradual growth of papilloma within the airway. The average length of time between when the symptoms first present and the papilloma are properly diagnosed is often greater than one year.
The treatment for recurrent respiratory papillomatosis has as its goal maintaining an adequate airway until the patient is able to spontaneously correct the problem. Surgical treatment will not cure a patient of laryngeal papilloma. The exact mechanism whereby the papilloma spontaneously regress is unclear although the patient’s immune status seems to be an important factor.
Various surgical treatment modalities exist for removing papilloma from the larynx. Lasers are able to vaporize the papilloma tissue with the precision necessary to protect adjacent normal tissue. Mechanical shavers have been developed where the papilloma can be suctioned into a device and cut free from the surrounding tissue with great precision. Grafting devices have also been utilized to remove large clumps of papilloma from the airway.
Several ancillary types of medical treatments have also been explored in the treatment of laryngeal papilloma. Interferon is a glycoprotein produced by various cells in the body in response to viruses. The main side effects of interferon treatment are flu-like symptoms. Ingol-3-corbinol is a chemical found in high concentrations in cruciferous vegetables (broccoli, cauliflower). It has been shown to alter the growth factor of papilloma cell cultures. Acyclovir is an antiviral drug active against the herpes simplex virus group. Its mechanism of action is not understood in respiratory papillomatosis. Cidofovir is an antiviral medication effective against DNA viruses. Intralesional injections of this drug are being investigated.
The natural history of recurrent respiratory papillomatosis is one of spontaneous resolution. Surgical intervention is necessary to maintain an airway until the papilloma regress. All treatments utilized must not create any damage to surrounding laryngeal structures. Extension of papilloma into the trachea and bronchi can occur. This makes treatment of the disease much more difficult, and life-threatening problems may develop.
Pierre Robin sequence occurs when a baby is born with a short lower jaw (micrognathia), which in turn makes the tongue sit high in the mouth causing a cleft palate. The prominent tongue may cause breathing problems as it blocks the back of the throat. If this is not severe, nothing need be done, as most children will have catch-up growth of the jaw and grow out of the problem within a year or two. If there are breathing problems, a sleep study may show the severity and whether intervention is required.
Some children have a less severe form with no cleft palate. However, they may also have very compromised breathing. Children with Pierre Robin may be very difficult to intubate.
If the baby’s breathing is blocked, a tracheotomy is usually needed. Other treatments are rarely effective. The tracheotomy can usually be removed once the jaw has grown. In a few children the jaw does not grow sufficiently and an operation (mandibular distraction) is needed to lengthen the jaw. Children with Pierre Robin are more prone to have suprastomal collapse (at the trach site), and tracheomalacia, which may delay removal of the tracheotomy tube. The cleft palate is usually repaired before 1 year of age.
Salivary Gland Disease
Saliva is produced by three pairs of major salivary glands as well as many minor salivary glands, which are located throughout the oral cavity. The major glands include the parotid glands (in front of the ear), the submandibular glands (just below the jaw) and the sublingual glands (under the tongue). These are all paired glands. In addition to producing a baseline amount of saliva, production increases with food consumption.
Diseases of the salivary glands usually involve infections or tumors. Infections of either the parotid or submandibular glands are marked by swelling in the area of the gland that is made worse during eating. Treatment usually involves fluids, antibiotics, heat, massage, and the use of sour candy to stimulate salivary gland drainage. In younger children, the infections may be recurrent in the parotid glands. In all situations, antibiotics usually resolve the infections but, in a few circumstances, surgery may be necessary to remove a chronically infected gland.
When a tumor is suspected, removal of the gland is often necessary. Specialized X-ray studies may be obtained before surgery, and the use of a needle to perform a biopsy may be an option as well. The risk of malignancy is relatively high in salivary gland tumors, and aggressive management of suspected tumors is encouraged.
Viral upper respiratory tract infections are extremely common in children under the age of 5. In children who are in a day care setting, this number is much higher. Though most of these infections will resolve spontaneously with symptomatic treatment in 10 days, sinusitis is thought to be present in those children who do not improve over this time. This condition may be marked by fever, facial pain, profuse nasal drainage, cough and headache. Acute sinusitis should be differentiated from chronic sinusitis in which symptoms may persist for more than three months.
Though antibiotics are the mainstays of treatment for acute sinusitis, routine use of saline nose drops may be helpful in addition to decongestant therapy and nasal steroid spray. Prolonged therapy is necessary frequently. In children who do not respond to conventional therapy, a CT scan of the sinuses may be obtained. X-rays are not used frequently, as the information they provide is limited. In some children who do not respond to medical therapy, drainage of the sinuses may be appropriate. Adenoidectomy may be helpful in certain individuals as well. In those children who require prolonged medical or surgical treatment, evaluation for allergies may be helpful.
Complications of sinusitis often involve the eye or brain. In these situations, intravenous antibiotic therapy is usually required, as is surgical drainage of the sinuses.
Sleep apnea is a condition where the normal sleep patterns of a child are disrupted. The word “apnea” refers to a condition where breathing stops. This can be due to central causes, where the brain no longer transmits signals to the body to actually breathe, or can be due to an obstruction in the airway where breathing is curtailed because of a blockage. Most causes of central apnea are due to neurologic abnormalities and will not be addressed here as they are usually cared for by neurologists or pulmonologists. Obstructive apnea, however, is most frequently treated by the otolaryngologist (ear, nose and throat specialist).
Within sleep apnea, there is a broad range of sleep disordered breathing abnormalities, including obstructive hypopneas, where the child doesn’t totally stop breathing, but there is enough obstruction in the airway such that the breaths taken are too small and not effective.
The most common cause of sleep apnea in children is due to enlarged tonsils and adenoids. However, any obstruction, from the level of the nose down to the voice box, or larynx, can cause sleep obstruction and apnea.
In adults, obesity has been shown to be a major risk factor for sleep apnea, but this is not always the case in children. Very thin children can have sleep apnea.
Untreated sleep abnormalities can be associated with behavioral problems and learning difficulties. In addition, more serious, irreversible health problems can occur including heart failure and pulmonary hypertension.
Sleep disordered breathing includes snoring, snorting, restless sleeping and pauses in the respiration. Some children can sleep only in a sitting position because of the obstruction. Parents are usually the first to notice that their child is having difficulties breathing during sleep. Sometimes, however, if the problem has been present for a long time, the parents may assume that this is simply “normal” for their child and it is only identified when another family member or a friend sleeps over. Sometimes it’s identified when the family is on vacation at a hotel and everyone sleeps in the same room together.
Once the problem is identified, an examination of the child is needed to determine the cause of the obstructed breathing. If the history is clear by the parents’ description of their child’s breathing, and the examination is consistent (i.e., very large tonsils and adenoids), treatment can proceed. If however, it is unclear whether the obstruction is truly dangerous or of concern, parents can supply a videotape of the child sleeping to their physician. Audiotapes can also be helpful. Sleep fluoroscopy or even the use of cine-MRI can be used in more complicated cases of sleep apnea to determine the exact level in the airway where the obstruction is occurring.
If there is still a question about the diagnosis, further documentation is available with a polysomnogram, or sleep study. This is a study where the child comes to the hospital and sleeps overnight attached to different monitors that record many parameters including obstructive apnea and hypopnea, central apnea and hypopnea, oxygen levels, carbon dioxide levels, heart tracing and brain wave tracings. This study is also helpful for children with underlying medical problems that can be associated with different causes of airway obstruction or in children where the obstruction may occur at different levels in the airway.
Most commonly however, sleep apnea is due to enlarged tonsils and adenoids, and treatment consists of removal of the tonsils and adenoids. Other times it may be due to the adenoids alone or from nasal obstruction from a deviated nasal septum. Surgery is then tailored to fit the child’s specific problem.
Children with craniofacial anomalies, such as Down syndrome or Pierre Robin sequence, will have a higher incidence of sleep apnea. More extensive evaluations will be needed for these children both before and after treatment.
Stridor is noisy breathing in children. It may be due to a narrow or obstructed airway. The obstruction may be above, at, or below the larynx. The doctor begins evaluating stridor by checking the patient’s history for whether the onset of stridor was gradual or sudden, the relationship of stridor to feeding, previous intubation and careful questioning for aspirated foreign bodies. A physical evaluation is given to record the pitch, duration and timing of the stridorous noise, breathing rate and degree of breathing distress. X-rays may be taken of the neck and chest. It is also possible that the doctor may suggest a flexible laryngoscopy.
The therapy options for stridor vary greatly depending on the cause, which is determined by the evaluations performed by the doctor.
Subglottic cysts are fluid-filled lesions that occur in the lower part of the larynx, or subglottis, just below the vocal cords. They are a fairly common cause of airway blockage in children. There may be one or more cysts that block the airway below the larynx. Subglottic cysts are often treatable, but can cause total airway obstruction and even death if they are large enough and not treated immediately.
A hemangioma is the benign overgrowth of small blood vessels. Hemangiomas can appear on the skin, commonly considered birth marks, or in the larynx and trachea (air pipe). Though hemangiomas are benign, they can cause problems when they occur in the larynx or trachea. Hemangiomas of the larynx and trachea can significantly reduce the amount of air that can pass into the lungs. This causes the child to make noise when breathing (“stridor”) and work hard to get a breath of air. Hemangiomas of the airway, for unknown reasons, commonly occur just below the vocal cords in a part of the airway called the subglottis.
If the hemangioma does not significantly compromise or reduce the airway, the child can be treated with a class of medications called steroids. Steroids help reduce the size of the hemangioma. Sometimes, babies are born with large subglottic hemangiomas. In these situations, the baby has considerable difficulty breathing and has to be intubated immediately. A surgical airway (tracheotomy) may have to be placed below the level of the subglottic hemangioma for long-term airway support. In the case of large subglottic hemangiomas or hemangiomas that do not respond to steroids, a surgical procedure can remove the hemangioma. An incision in the neck and the larynx is opened. The subglottic hemangioma is resected and the neck incision is closed. The child is usually intubated for several days after the procedure, until the swelling in the airway resolves.
Subglottic / Supraglottic Stenosis
Our lungs receive air through a pipe-like structure called the larynx and trachea. The larynx begins at the very back of the mouth, below the tongue. The larynx is often referred to as the “voice box.” The voice box connects to the trachea, a tube-like structure, which connects to the lungs. The larynx contains the vocal cords, which help us generate sounds to communicate. The supraglottis is the area directly above the vocal cords, and the subglottis is the area directly below the vocal cords. In children, the subglottis is the narrowest part of the airway.
Some children are born with a narrowing of their supraglottic or subglottic airway. This causes the child to make excessive noise when breathing and appear short of breath. Some children can develop narrowing of the supraglottis or subglottis after birth, usually associated with long-term intubation or previous airway surgery.
The most important part of treatment is to characterize or describe the subglottic or supraglottic narrowing. Temporary treatment may involve the placement of a surgical airway (tracheotomy) below the level of airway narrowing. Definitive treatment is aimed at surgically enlarging the area of narrowing or stenosis. This is accomplished by adding cartilage to the wall of the airway to increase the diameter of the airway. Rib cartilage is routinely used for this reconstruction.
The tonsils are a collection of lymphoid tissue located on either side of the back of the throat. In contrast, the adenoids are a similar type of tissue located behind the nose and above the palate. These structures can become inflamed secondary to either viral or bacterial infections, the best known being “strep throat.” In children with a positive strep culture, use of antibiotics is necessary to treat the infection and to prevent potential complications such as rheumatic fever. In some children with severe tonsillitis, an abscess may form in the tissue around the tonsil.
In children with a positive strep culture, antibiotic treatment is needed. When infections become recurrent (greater than four to six per year), removal of the tonsils and adenoids is helpful. Additionally, children who have extremely large tonsils and obstructed breathing may benefit from removal of the tonsils and adenoids.
Tracheal stenosis is much less common than subglottic stenosis (which affects the lower part of the larynx). Congenital tracheal stenosis is usually due to complete tracheal rings. While there are many causes of acquired tracheal stenosis, the most common include neck trauma, burns and prolonged intubation.
Children (and adults) with tracheal stenosis may have symptoms of shortness of breath on exertion, stridor (noisy breathing) and retractions. In severe cases a tracheotomy may be required. In some children, the tracheotomy may be the cause of the narrowing of the trachea. The voice should be normal unless there is a severe narrowing, or unless there is a second problem affecting the voice.
If there is only mild narrowing of the trachea, with few symptoms, nothing may need to be done. If there are symptoms, or if removal of a tracheotomy is desired, surgery is required. Tracheal stenosis usually affects the upper trachea and may be corrected through a neck incision. Lower tracheal narrowing may need a sternotomy for repair. In some instances stenosis may be fixed endoscopically (through the mouth), sometimes with temporary placement of a stent. The two most common forms of repair are removal of the narrow area (resection), or increasing the size of the narrow area with cartilage grafts. We have considerable expertise with these techniques in both adults and children.
Velopharyngeal insufficiency refers to the inability to separate the nasal cavity from the oral cavity during speech. The result is abnormal resonance and the production of distracting noises during speech. Decreased intelligibility results due to the distortion of consonants and vowel sounds.
Not all velopharyngeal insufficiency requires treatment. In those cases where speech intelligibility is affected, various treatment options are available and need to be tailored to the findings obtained on nasopharyngoscopy.
Speech therapy may be an option in those patients where articulation errors are the source for the hypernasality. Speech therapy is often necessary to correct compensatory speech problems that develop secondary to velopharyngeal insufficiency. Speech therapy is generally required after surgical intervention so that the patient can obtain maximal benefit from the surgical procedure.
Physical intervention varies from procedures lasting less than 10 minutes to those requiring 1½ hours to complete. The areas where the patient is losing sound energy from the oral cavity into the nasal passages require some form of treatment to obstruct this abnormal escape. Generally, tissues from the back wall of the throat are rotated in such a way that the patient is able to separate the nasal cavity from the oral cavity during speech.
The vocal cords should separate during inspiration to provide a wide opening into the windpipe. If the vocal cords do not move normally, difficulty with inspiration can develop. Difficulties with vocal cord motion can involve one or both vocal cords.
Bilateral vocal cord paralysis generally causes significant airway difficulties in children. Unilateral vocal cord paralysis, while increasing the noise associated with respiration, is generally tolerated by the child.
Vocal cord paralysis may be secondary to compression of the brainstem, as in a Chiari malformation. Neurologic problems such as stroke or tumor resections can lead to vocal cord paralysis. In the newborn the vocal cords may be paralyzed with no etiology identified. In these idiopathic cases it is thought that stretching of the nerves controlling the vocal cords may be the etiology, and spontaneous recovery over time can occur.
Surgical correction of vocal cord paralysis results in the creation of an opening into the airway that allows adequate respiration. This generally requires moving the vocal cord to a more lateral position or removing a portion of the vocal cord to increase airway size. In some cases, scarring within the larynx will tether the vocal cords, preventing their movements. Repairing these areas of scar can therefore return mobility to the vocal cords.
In general, unilateral vocal cord paralysis requires no treatment. The airway is usually adequate. Voice production improves as the opposite mobile vocal cord compensates by crossing the midline to approximate the paralyzed vocal cord in its resting position. Vocal range and voice quality may not be completely normal. Voice quality can be improved in late childhood by surgically moving the paralyzed vocal cord closer to the midline to improve contact with the mobile vocal cord.