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Historically, to temporarily alleviate symptoms, patients have tried positional maneuvers, such as tilting their head to one side or upside down, lie down on their backs, or sit in a chair with their head between their knees. Similarly, a routine of lying down four times per day with legs elevated to around 20 inches for at least two weeks has been attempted as well. Depending on the underlying cause of the disorder, the individual may need to remove caffeine from their diet, reduce exercise, or gain weight. It may be the case that the symptoms are induced by anxiety; anxiolytic drugs or supplements (e.g., GABA) combined with the removal of caffeine from the diet could offer a simple strategy to determine if anxiety is the root cause.
Estrogen (Premarin) nasal drops or saturated potassium iodide have been used to induce edema of the eustachian tube opening. Nasal medications containing diluted hydrochloric acid, chlorobutanol, and benzyl alcohol have been reported to be effective in some patients, with few side effects. Food and Drug Administration approval is still pending, however.
In extreme cases surgical intervention may attempt to restore the Eustachian tube tissues with fat, gel foam, or cartilage or scar it closed with cautery. These methods are not always successful.
The most common complications of the posterior pharyngeal wall flap are hyponasality, nasal obstruction, snoring, and sleep apnea. Rarer complications include flap separation, sinusitis, postoperative bleeding, and aspiration pneumonia. Possible complications of the sphincter pharyngoplasty are snoring, nasal obstruction, difficulty blowing the nose.
Some researches suggest that sphincter pharyngoplasty introduces less hyponasality and obstructive sleep symptoms than the posterior pharyngeal wall flap. Both surgeries have a favourable effect on the function of the Eustachian tube.
Sphincter pharyngoplasty is mostly used for horizontal clefts of the soft palate. Two small flaps are made on the left and right side of the entrance to the nasal cavity, attached to the back of the throat. For good results, the patient must have good palatal motion, as the occlusion of the nasal cavity is mainly carried out by muscles already existing and functioning.
The goals of treatment in infants with Robin sequence focus upon breathing and feeding, and optimizing growth and nutrition despite the predisposition for breathing difficulties. If there is evidence of airway obstruction (snorty breathing, apnea, difficulty taking a breath, or drops in oxygen), then the infant should be placed in the sidelying or prone position, which helps bring the tongue base forward in many children. One study of 60 infants with PRS found that 63% of infants responded to prone positioning (Smith and Senders, 2006, Int J Pediatr Oto). 53% of the infants in this study required some form of feeding assistance, either nasogastric tube or gastrostomy tube feedings (feeding directly into the stomach). In a separate study of 115 children with the clinical diagnosis of PRS managed at 2 different hospitals in Boston (Evans et al., 2006, In J Pediatr Oto), respiratory distress was managed successfully in 56% without an operation (either by prone positioning, short term intubation, or placement of a nasopharyngeal airway). In this study, gastrostomy tube feeding were placed in 42% of these infants due to feeding difficulties.
Gastroesophageal reflux (GERD) seems to be more prevalent in children with Robin sequence (Dudkiewicz, March 2000, CPCJ). Because reflux of acidic contents in the posterior pharynx and upper airway can intensify the symptoms of Robin sequence, specifically by worsening airway obstruction, it is important to maximize treatment for GER in children with PRS and reflux symptoms. Treatment may include upright positioning on a wedge (a tucker sling may be needed if the baby is in the prone position), small and frequent feedings (to minimize vomiting), and/or pharmacotherapy (such as proton pump inhibitors).
In nasopharyngeal cannulation (or placement of the nasopharyngeal airway or tube), the infant is fitted with a blunt-tipped length of surgical tubing (or an endotracheal tube fitted to the child), which is placed under direct visualization with a laryngoscope, being inserted into the nose and down the pharynx (or throat), ending just above the vocal cords. Surgical threads fitted through holes in the outside end of the tube are attached to the cheek with a special skin-like adhesive material called 'stomahesive', which is also wrapped around the outside end of the tube (but not over the opening at the end) to keep the tube in place. This tube or cannula, which itself acts as an airway, primarily acts as a sort of "splint" which maintains patency of the airway by keeping the tongue form falling back on the posterior pharyngeal wall and occluding the airway, therefore preventing airway obstruction, hypoxia and asphyxia. Nasopharyngeal airways are not available at every center, however, when available, nasopharyngeal cannulation should be favored over the other treatments mentioned in this article, as it is far less invasive; it allows the infant to feed without the further placement of a nasogastric tube. This treatment may be utilized for multiple months, until the jaw has grown enough so that the tongue assumes a more normal position in the mouth and airway (at birth, the jaws of some infants are so underdeveloped that only the tip of the tongue can be seen when viewed in the throat). Some institutions discharge the infant home with a nasopharyngeal tube in place (Citation: KD Anderson, May 2007, CPCJ).
Distraction osteogenesis (DO), also called a "Mandibular Distraction", can be used to correct abnormal smallness of one or both jaws seen in patients with Robin Sequence. Enlargement of the lower jaw brings the tongue forward, preventing it from obstructing the upper airway. The process of DO begins with preoperative assessment. Doctors use three-dimensional imaging to identify the parts of the patient's facial skeleton that need repositioning and determine the magnitude and direction of distraction. They may then select the most appropriate distraction device or sometimes have custom devises fabricated. When possible, intraoral devices are used.
DO surgery starts with an osteotomy (surgical division or sectioning of bone) followed by the distraction device being placed under the skin and across the osteotomy. A few days later, the two ends of the bone are very gradually pulled apart through continual adjustments that are made to the device by the parents at home. The adjustments are made by turning a small screw that protrudes through the skin, usually at a rate of 1 mm per day. This gradual distraction leads to formation of new bone between the two ends. After the process is complete, the osteotomy is allowed to heal over a period of six to eight weeks. A small second surgery is then performed to remove the device.
The cleft palate is generally repaired between the ages of 6½ months and 2 years by a plastic or maxillofacial surgeon. In many centres there is now a cleft lip and palate team comprising both of these specialties, as well as a coordinator, a speech and language therapist, an orthodontist, sometimes a psychologist or other mental health specialist, an audiologist, an otorhinolaryngologist (ENT surgeon) and nursing staff. The glossoptosis and micrognathism generally do not require surgery, as they improve to some extent unaided, though the mandibular arch remains significantly smaller than average. In some cases jaw distraction is needed to aid in breathing and feeding. Lip-tongue attachment is performed in some centres, though its efficacy has been recently questioned.
Children affected with PRS usually reach full development and size. However, it has been found internationally that children with PRS are often slightly below average size, raising concerns of incomplete development due to chronic hypoxia related to upper airway obstruction as well as lack of nutrition due to early feeding difficulties or the development of an oral aversion. However, the general prognosis is quite good once the initial breathing and feeding difficulties are overcome in infancy. Most PRS babies grow to lead a healthy and normal adult life.
The most important medical problems are difficulties in breathing and feeding. Affected infants very often need assistance with feeding, for example needing to stay in a lateral(on the side) or prone(on the tummy) position which helps bring the tongue forward and opens up the airway. Babies with a cleft palate will need a special cleft feeding device (such as the Haberman Feeder). Infants who are unable to take in enough calories by mouth to ensure growth may need supplementation with a nasogastric tube. This is related to the difficulty in forming a vacuum in the oral cavity related to the cleft palate, as well as to breathing difficulty related to the posterior position of the tongue. Given the breathing difficulties that some babies with PRS face, they may require more calories to grow (as working of breathing is somewhat like exercising for an infant). Infants, when moderately to severely affected, may occasionally need nasopharyngeal cannulation, or placement of a nasopharyngeal tube to bypass the airway obstruction at the base of the tongue. in some places, children are discharged home with a nasopharyngeal tube for a period of time, and parents are taught how to maintain the tube. Sometimes endotracheal intubation or tracheostomy may be indicated to overcome upper respiratory obstruction. In some centers, a tongue lip adhesion is performed to bring the tongue forward, effectively opening up the airway. Mandibular distraction can be effective by moving the jaw forward to overcome the upper airway obstruction caused by the posterior positioning of the tongue.
Given that a proportion of children with Robin sequence will have Stickler syndrome, it is important that a child with PRS have an evaluation by an optometrist or ophthalmologist in the first year of life looking for myopia that can be seen in Stickler syndrome. Because retinal detachment that can occur in Stickler syndrome is a leading cause of blindness in children, it is very important to recognize and be thoughtful of this diagnosis.
Upon examination of a suspected case of patulous Eustachian tube, a doctor can directly view the tympanic membrane with a light and observe that it vibrates with every breath taken by the patient. A tympanogram may also help with the diagnosis. Patulous Eustachian tube is likely if brisk inspiration causes a significant pressure shift.
Patulous Eustachian tube is frequently misdiagnosed as standard congestion due to the similarity in symptoms and rarity of the disorder. Audiologists are more likely to recognize the disorder, usually with tympanometry or nasally delivered masking noise during a hearing assessment, which is highly sensitive to this condition.
When misdiagnosis occurs, a decongestant medication is sometimes prescribed. This type of medication aggravates the condition, as the Eustachian tube relies on sticky fluids to keep closed and the drying effect of a decongestant would make it even more likely to remain open and cause symptoms. The misdiagnosed patient may also have tubes surgically inserted into the eardrum, which increases the risk of ear infection and will not alleviate patulous Eustachian tube. If these treatments are tried and failed, and the doctor is not aware of the actual condition, the symptoms may even be classified as psychological.
Incidentally, patients who instead suffer from the even rarer condition of superior canal dehiscence are at risk for misdiagnosis of patulous Eustachian tube due to the similar autophony in both conditions.
The treatment will vary with the different grades, but the most common is a surgical repair. The surgical option is cosmetic reconstruction of the external ear's normal shape and repair of the ear canal. In less severe cases the reconstruction will be sufficient to restore hearing. In grades of anotia/microtia that affect the middle ear the surgery with the use of a Bone Anchored Hearing Aid (BAHA) will likely restore the hearing. The BAHA may be surgically implanted onto the skull which would allow for some hearing repair by conduction through the skull bone. "This allows sound vibrations to travel through bones in the head to the inner ear."
BAHA: An implantable hearing device. It is the only hearing aid device that works via direct bone conduction.
The decision to begin enteral feeding is made in most cases by a specialized medical team with a clear plan of treatment goals, the existence of some existing tube maintenance strategies and nutritional counselling and some idea of exit strategies.
During the phase of ENS (enteral nutrition support), patients are recommended to receive regular input from speech and language therapists, occupational therapy, physiotherapy and physicians with the aim of preserving oral functions, exposure to taste and texture preferences and supporting the patient and family to maintain some oral intake unless contraindicated.
The treatment of tube dependency is tube weaning. The best time to make the transition from exclusive tube feeding to oral feeding is between the ages of 6–12 months.
The earlier the tube is removed and the younger the child, the easier the transition. At the same time, the intended nutritional goals of ENS (enteral nutrition support) must be defined and assessed critically and individually.
Small studies of children undergoing cardiac surgery have shown that they have the easiest transition and highest success rate (n=20) and it has been postulated that this is due to them being able to maintain oral intake throughout the feeding period.
There are a few techniques that are used to aid tube weaning when initial attempts have failed.
- A single paper report of an approach uses analgesic medication based on the theory that children experience pain with oral intake. A study in 2009 showed a 82% (n=9) success rate.
- Behavioral treatment has been used in small samples. A randomised control trial in 2000 showed a 47% (n=32) success rate.
- The Graz approach uses a combination of multiple theories and therapeutic inputs and Play Picnics and has a 92% (n=221) success rate.
One possible treatment for hyperacusis is retraining therapy which uses broadband noise. Tinnitus retraining therapy, a treatment originally used to treat tinnitus, uses broadband noise to treat hyperacusis. Pink noise can also be used to treat hyperacusis. By listening to broadband noise at soft levels for a disciplined period of time each day, patients can rebuild (i.e., re-establish) their tolerances to sound.
Another possible treatment is cognitive behavioral therapy (CBT), which may also be combined with retraining therapy.
Definitive treatment depends on the underlying cause of vertigo. Ménière's disease patients have a variety of treatment options to consider when receiving treatment for vertigo and tinnitus including: a low-salt diet and intratympanic injections of the antibiotic gentamicin or surgical measures such as a shunt or ablation of the labyrinth in refractory cases.
Common drug treatment options for vertigo may include the following:
- Anticholinergics such as hyoscine hydrobromide (scopolamine)
- Anticonvulsants such as topiramate or valproic acid for vestibular migraines
- Antihistamines such as betahistine, dimenhydrinate, or meclizine, which may have antiemetic properties
- Beta blockers such as metoprolol for vestibular migraine
- Corticosteroids such as methylprednisolone for inflammatory conditions such as vestibular neuritis or dexamethasone as a second-line agent for Ménière's disease
All cases of decompression sickness should be treated initially with 100% oxygen until hyperbaric oxygen therapy (100% oxygen delivered in a high-pressure chamber) can be provided. Several treatments may be necessary, and treatment will generally be repeated until either all symptoms resolve, or no further improvement is apparent.
People generally require tracheostomy and lifetime mechanical ventilation on a ventilator in order to survive. However, it has now been shown that biphasic cuirass ventilation can effectively be used without the need for a tracheotomy. Other potential treatments for Ondine's curse include oxygen therapy and medicine for stimulating the respiratory system. Currently, problems arise with the extended use of ventilators, including fatal infections and pneumonia.
Most people with CCHS (unless they have the Late Onset form) do not survive infancy, unless they receive ventilatory assistance during sleep. An alternative to a mechanical ventilator is diaphragm pacing.
As of 2012 there has only been one small-scale study comparing CROS systems.
One study of the BAHA system showed a benefit depending on the patient's transcranial attenuation. Another study showed that sound localisation was not improved, but the effect of the head shadow was reduced.
The treatment of individuals with TCS may involve the intervention of professionals from multiple disciplines. The primary concerns are breathing and feeding, as a consequence of the hypoplasia of the mandibula and the obstruction of the hypopharynx by the tongue. Sometimes, they may require a tracheostomy to maintain an adequate airway, and a gastrostomy to assure an adequate caloric intake while protecting the airway. Corrective surgery of the face is performed at defined ages, depending on the developmental state.
An overview of the present guidelines:
- If a cleft palate is present, the repair normally takes place at 9–12 months old. Before surgery, a polysomnography with a palatal plate in place is needed. This may predict the postoperative situation and gives insight on the chance of the presence of sleep apnea (OSAS) after the operation.
- Hearing loss is treated by bone conduction amplification, speech therapy, and educational intervention to avoid language/speech problems. The bone-anchored hearing aid is an alternative for individuals with ear anomalies
- Zygomatic and orbital reconstruction is performed when the cranio-orbitozygomatic bone is completely developed, usually at the age of 5–7 years. In children, an autologous bone graft is mostly used. In combination with this transplantation, lipofilling can be used in the periorbital area to get an optimal result of the reconstruction. Reconstruction of the lower eyelid coloboma includes the use of a myocutaneous flap, which is elevated and in this manner closes the eyelid defect.
- External ear reconstruction is usually done when the individual is at least eight years old. Sometimes, the external auditory canal or middle ear can also be treated.
- The optimal age for the maxillomandibular reconstruction is controversial; as of 2004, this classification has been used:
1. Type I (mild) and Type IIa (moderate) 13–16 years
2. Type IIb (moderate to severe malformation) at skeletal maturity
3. Type III (severe) 6–10 years
- When the teeth are cutting, the teeth should be under supervision of an orthodontist to make sure no abnormalities occur. If abnormalities like dislocation or an overgrowth of teeth are seen, appropriate action can be undertaken as soon as possible.
- Orthognatic treatments usually take place after the age of 16 years; at this point, all teeth are in place and the jaw and dentures are mature. Whenever OSAS is detected, the level of obstruction is determined through endoscopy of the upper airways. Mandibular advancement can be an effective way to improve both breathing and æsthetics, while a chinplasty only restores the profile.
- If a nose reconstruction is necessary, it is usually performed after the orthognatic surgery and after the age of 18 years.
- The contour of the facial soft tissues generally requires correction at a later age, because of the facial skeletal maturity. The use of microsurgical methods, like the free flap transfer, has improved the correction of facial soft tissue contours. Another technique to improve the facial soft tissue contours is lipofilling. For instance, lipofilling is used to reconstruct the eyelids.
Vitamins A, C and E have been shown to be 'free radical scavengers' by studies looking for protective tendencies of antioxidants. In addition, NAC, or N-acetyl-L-cysteine (acetylcysteine), has been shown to reduce ROS formation associated with the excessive vibrations induced by the noise exposure.
Many of the congenital malformations found with Malpuech syndrome can be corrected surgically. These include cleft lip and palate, omphalocele, urogenital and craniofacial abnormalities, skeletal deformities such as a caudal appendage or scoliosis, and hernias of the umbillicus. The primary area of concern for these procedures applied to a neonate with congenital disorders including Malpuech syndrome regards the logistics of anesthesia. Methods like tracheal intubation for management of the airway during general anesthesia can be hampered by the even smaller, or maldeveloped mouth of the infant. For regional anesthesia, methods like spinal blocking are more difficult where scoliosis is present. In a 2010 report by Kiernan et al., a four-year-old girl with Malpuech syndrome was being prepared for an unrelated tonsillectomy and adenoidectomy. While undergoing intubation, insertion of a laryngoscope, needed to identify the airway for the placement of the endotracheal tube, was made troublesome by the presence of micrognathia attributed to the syndrome. After replacement with a laryngoscope of adjusted size, intubation proceeded normally. Successful general anesthesia followed.
A rare follow-up of a male with Malpuech syndrome was presented by Priolo et al. (2007). Born at term from an uneventful pregnancy and delivery, the infant underwent a surgical repair of a cleft lip and palate. No problems were reported with the procedure. A heart abnormality, atrial septal defect, was also apparent but required no intervention. At age three years, mental retardation, hyperactivity and obsessive compulsive disorder were diagnosed; hearing impairment was diagnosed at age six, managed with the use of hearing aids. Over the course of the decade that followed, a number of psychiatric evaluations were performed. At age 14, he exhibited a fear of physical contact; at age 15, he experienced a severe psychotic episode, characterized by agitation and a loss of sociosexual inhibition. This array of symptoms were treated pharmocologically (with prescription medications). He maintained a low level of mental deficiency by age 17, with moments of compulsive echolalia.
The disorder can be associated with a number of psychological symptoms, anxiety, depression, social phobia, body image disorders, and patients may be subjected to discrimination, bullying and name calling especially when young. A multi-disciplinary team and parental support should include these issues.
The U.S. Food and Drug Administration (FDA) has not approved any drug for the direct treatment of stuttering. However, the effectiveness of pharmacological agents, such as benzodiazepines, anticonvulsants, antidepressants, antipsychotic and antihypertensive medications, and dopamine antagonists in the treatment of stuttering has been evaluated in studies involving both adults and children.
A comprehensive review of pharmacological treatments of stuttering in 2006 concluded that few of the drug trials were methodologically sound. Of those that were, only one, not unflawed study, showed a reduction in the frequency of stuttering to less than 5% of words spoken. In addition, potentially serious side effects of pharmacological treatments were noted, such as weight gain, sexual dysfunctions and the potential for blood pressure increases. There is one new drug studied especially for stuttering named pagoclone, which was found to be well-tolerated "with only minor side-effects of headache and fatigue reported in a minority of those treated".
Furosemide injections prior to noise exposure have been shown to decrease the endocochlear potential. This decrease results in a reduction of active cochlear displacements and it is believed that the protection by furosemide stems from the limitation of excessive vibrations while the cochlear amplifier is depressed.
School-age children with unilateral hearing loss tend to have poorer grades and require educational assistance. This is not the case with everyone, however. They can also be perceived to have behavioral issues.
People afflicted with UHL have great difficulty locating the source of any sound. They may be unable to locate an alarm or a ringing telephone. The swimming game Marco Polo is generally impossible for them.
When wearing stereo headphones, people with unilateral hearing loss can hear only one channel, hence the panning information (volume and time differences between channels) is lost; some instruments may be heard better than others if they are mixed predominantly to one channel, and in extreme cases of sound production, such as complete stereo separation or stereo-switching, only part of the composition can be heard; in games using 3D audio effects, sound may not be perceived appropriately due to coming to the disabled ear. This can be corrected by using settings in the software or hardware—audio player, OS, amplifier or sound source—to adjust balance to one channel (only if the setting downmixes sound from both channels to one), or there may be an option to outright downmix both channels to mono. Such settings may be available via the device or software's accessibility features. As hardware solutions, stereo-to-mono adapters may be available to receive mono sound in stereo headphones from a stereo sound source, or some monaural headsets for cellphones and VOIP communication may combine stereo sound to mono (though headphones for voice communication typically offer lower audio quality than headphones targeted for listening to music). From the standpoint of sound fidelity, sound information in downmixed mono channel will, in any case, differ from that in either of the source channels or what is perceived by a normal-hearing person, thus technically some audio quality is lost (for example, the same or slightly different sound occurrences in two channels, with time delay between them, will be merged to a sound in the mono channel that unavoidably cannot correspond to the intent of the sound producer); however, such loss is most probably unnoticeable, especially compared to other distortions inherent in sound reproduction, and to the person's problems from hearing loss.
Altered auditory feedback, so that people who stutter hear their voice differently, has been used for over 50 years in the treatment of stuttering. Altered auditory feedback effect can be produced by speaking in chorus with another person, by blocking out the person who stutters' voice while talking (masking), by delaying slightly the voice of the person who stutters (delayed auditory feedback) or by altering the frequency of the feedback (frequency altered feedback). Studies of these techniques have had mixed results, with some people who stutter showing substantial reductions in stuttering, while others improved only slightly or not at all. In a 2006 review of the efficacy of stuttering treatments, none of the studies on altered auditory feedback met the criteria for experimental quality, such as the presence of control groups.
The tumor must be removed with as complete a surgical excision as possible. In nearly all cases, the ossicular chain must be included if recurrences are to be avoided. Due to the anatomic site of involvement, facial nerve paralysis and/or paresthesias may be seen or develop; this is probably due to mass effect rather than nerve invasion. In a few cases, reconstructive surgery may be required. Since this is a benign tumor, no radiation is required. Patients experience an excellent long term outcome, although recurrences can be seen (up to 15%), especially if the ossicular chain is not removed. Although controversial, metastases are not seen in this tumor. There are reports of disease in the neck lymph nodes, but these patients have also had other diseases or multiple surgeries, such that it may represent iatrogenic disease.
Anotia ("no ear") describes a rare congenital deformity that involves the complete absence of the pinna, the outer projected portion of the ear, and narrowing or absence of the ear canal. This contrasts with microtia, in which a small part of the pinna is present. Anotia and microtia may occur unilaterally (only one ear affected) or bilaterally (both ears affected). This deformity results in conductive hearing loss, deafness.
As of 2014, no clinical trials had been conducted to determine what treatments are safe and effective; a few case reports had been published describing treatment of small numbers of people (two to twelve per report) with clomipramine, flunarizine, nifedipine, topiramate, carbamazepine, methylphenidate. Studies suggest that education and reassurance can reduce the frequency of EHS episodes. There is some evidence that individuals with EHS rarely report episodes to medical professionals.
Currently, no forms of treatment have proven effective in treating amusia. One study has shown tone differentiation techniques to have some success, however future research on treatment of this disorder will be necessary to verify this technique as an appropriate treatment.