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.

Patulous Eustachian Tube (PET) or tube to open remains an ET dysfunction category, difficult to diagnose and to treat. Recent studies suggest that the pathophysiology and etiology of PET is more related to a previous history of otitis media, rather than from weight loss, which was widely recognized as the major causal factor. Simultaneous weight gain can even be observed in some cases. The average age is 30 years, with a female prevalence. It’s rare to find patients of less than 15 years of age, which seems to confirm the opinion that PET is an acquired condition. Chronic upper respiratory inflammatory diseases are almost always associated with PET; half of these patients report previous history of nasal or sinus surgery. Radical posterior / inferior turbinectomies seem to be proportionally connected to PET severity. History of recurrent otitis media with effusion, with tympanostomy and adenoidectomy during childhood is also frequent. Laryngopharyngeal reflux (LPR) is identified in a great proportion of patients. Last epidemiological data indicates that PET results from obstructive ET dysfunction evolving over a long period of time.

Since the surgical management of these two pathologies is at diametrically opposed extremes, it is critical to obtain the correct diagnosis before undertaking any treatment. Visualization of a permanently open tubal valve by endoscopic examination allows settling this question, but its absence does not exclude PET diagnosis. Sonotubometry and recently developed tubomanometry may help in some specific cases. Unfortunately, some PET cases remain difficult to diagnose.

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.

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.

The prevalence has been estimated at 1 in 10,000 births, but exact values are hard to know because some that have the symptoms rarely have Pierre-Robin sequence (without any other associated malformation).

Tube dependency is a new clinical phenomenon and isn't recognized as a separate diagnosis yet, thus there is no standardized valid diagnostic inventory to classify it. Tube dependency should be considered in any patient who remains tube-fed despite having the basic ability to ingest food orally and in absence of specific medical reasons to remain tube fed. In this case, assessment by a clinician experienced with eating development, tube management and tube weaning is recommended

There are two known methods that can aid in the possible diagnosis of tube dependency:

1. Observation of affected infants during a feeding situation by experienced clinicians.

2. A multiaxial diagnostic system focused on eating behavior disorders. It consists of five axis, which are compatible with the axis of the DSM-IV and subdivided in currently six feeding (eating behavior) disorders with different origins.

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 basic diagnostic test is similar to a normal audiogram. The difference is that additionally to the hearing threshold at each test frequency also the lowest uncomfortable sound level is measured. This level is called "loudness discomfort level" (LDL) or "uncomfortable loudness level" (ULL). In patients with hyperacusis this level is considerably lower than in normal subjects, and usually across most parts of the auditory spectrum.

Universal Newborn Hearing Screenings (UNHS) is mandated in a majority of the United States. Auditory neuropathy is sometimes difficult to catch right away, even with these precautions in place. Parental suspicion of a hearing loss is a trustworthy screening tool for hearing loss, too; if it is suspected, that is sufficient reason to seek a hearing evaluation from an audiologist.

In most parts of Australia, hearing screening via AABR testing is mandated, meaning that essentially all congenital (i.e., not those related to later onset degenerative disorders) auditory neuropathy cases should be diagnosed at birth.

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.

A number of computer-based auditory training programs exist for children with generalized Auditory Processing Disorders (APD). In the visual system, it has been proven that adults with amblyopia can improve their visual acuity with targeted brain training programs (perceptual learning). A focused perceptual training protocol for children with amblyaudia called Auditory Rehabilitation for Interaural Asymmetry (ARIA) was developed in 2001 which has been found to improve dichotic listening performance in the non-dominant ear and enhance general listening skills. ARIA is now available in a number of clinical sites in the U.S., Canada, Australia and New Zealand. It is also undergoing clinical research trials involving electrophysiologic measures and activation patterns acquired through functional magnetic resonance imaging (fMRI) techniques to further establish its efficacy to remediate amblyaudia.

A few techniques are used to confirm the diagnosis in TCS.

An orthopantomogram (OPG) is a panoramic dental X-ray of the upper and lower jaw. It shows a two-dimensional image from ear to ear. Particularly, OPG facilitates an accurate postoperative follow-up and monitoring of bone growth under a mono- or double-distractor treatment. Thereby, some TCS features could be seen on OPG, but better techniques are used to include the whole spectrum of TCS abnormalities instead of showing only the jaw abnormalities.

Another method of radiographic evaluation is taking an X-ray image of the whole head. The lateral cephalometric radiograph in TCS shows hypoplasia of the facial bones, like the malar bone, mandible, and the mastoid.

Finally, occipitomental radiographs are used to detect hypoplasia or discontinuity of the zygomatic arch.

A temporal-bone CT using thin slices makes it possible to diagnose the degree of stenosis and atresia of the external auditory canal, the status of the middle ear cavity, the absent or dysplastic and rudimentary ossicles, or inner ear abnormalities such as a deficient cochlea. Two- and three-dimensional CT reconstructions with VRT and bone and skin-surfacing are helpful for more accurate staging and the three-dimensional planning of mandibular and external ear reconstructive surgery.

Learning of the central nervous system by "plasticity" or biological maturation over time does not improve the performance of monaural listening. In addition to conventional methods for improving the performance of the impaired ear, there are also hearing aids adapted to unilateral hearing loss which are of very limited effectiveness due to the fact that they don't restore the stereo hearing ability.

- Contralateral Routing of Signals (CROS) hearing aids are hearing aids that take sound from the ear with poorer hearing and transmit to the ear with better hearing. There are several types of CROS hearing aid:

- conventional CROS comprises a microphone placed near the impaired ear and an amplifier (hearing aid) near the normal ear. The two units are connected either by a wire behind the neck or by wireless transmission. The aid appears as two behind-the-ear hearing aids and is sometimes incorporated into eyeglasses.

- CIC transcranial CROS comprises a bone conduction hearing aid completely in the ear canal (CIC). A high-power conventional air conduction hearing aid fits deeply into the patient’s deaf ear. Vibration of the bony walls of the ear canal and middle ear stimulates the normal ear by means of bone conduction through the skull.

- BAHA transcranial CROS Bone Anchored Hearing Aid (BAHA): a surgically implanted abutment transmits sound from the deaf ear by direct bone conduction and stimulates the cochlea of the normal hearing ear.

- SoundBite Intraoral bone conduction which uses bone conduction via the teeth. One component resembles a conventional behind-the-ear hearing aid that wirelessly connects to a second component worn in the mouth that resembles a conventional dental appliance.

In Germany and Canada, cochlear implants have been used with great success to mostly restore the stereo hearing ability, minimizing the impacts of the SSD and the quality of life of the patient.

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.

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.

It seems that somatic anxiety and situations of stress may be determinants of speech-hearing disability.

Some studies indicated an increased prevalence of a family history of hearing impairment in these patients. The pattern of results is suggestive that King-Kopetzky patients may be related to conditions of autosomal dominant inheritance.

A clinical diagnosis of amblyaudia is made following dichotic listening testing as part of an auditory processing evaluation. Clinicians are advised to use newly developed dichotic listening tests that provide normative cut-off scores for the listener's dominant and non-dominant ears. These are the Randomized Dichotic Digits Test and the Dichotic Words Test. Older dichotic listening tests that provide normative information for the right and left ears can be used to supplement these two tests for support of the diagnosis (). If performance across two or more dichotic listening tests is normal in the dominant ear and significantly below normal in the non-dominant ear, a diagnosis of amblyaudia can be made. The diagnosis can also be made if performance in both ears is below normal but performance in the non-dominant ear is significantly poorer, thereby resulting in an abnormally large asymmetry between the two ears. Amblyaudia is emerging as a distinct subtype of auditory processing disorder (APD).

When testing the auditory system, there really is no characteristic presentation on the audiogram.

When diagnosing someone with auditory neuropathy, there is no characteristic level of functioning either. People can present relatively little dysfunction other than problems of hearing speech in noise, or can present as completely deaf and gaining no useful information from auditory signals.

Hearing aids are sometimes prescribed, with mixed success.

Some people with auditory neuropathy obtain cochlear implants, also with mixed success.

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.

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.

Individuals with Nager syndrome typically have the malformations of the auricle, external auditory canal, and middle ear, including the ossicles. These malformations were found in 80% of individuals with Nager syndrome. Inner ear malformations, however, are not typically seen in this population. Middle ear disease is common among individuals with Nager syndrome. Chronic otitis media and Eustachian tube deformity can result in conductive hearing loss. For this reason, early detection and treatment for middle ear disease is crucial in this population. Sensorineural hearing loss is not a typical characteristic of Nager syndrome; however, a subset of individuals present with a mixed hearing loss, due to a progressive sensorineural component combined with the typical conductive hearing loss (Herrman "et al.", 2005).

It was found that based on sensitized measures of auditory dysfunction and on psychological assessment, Subjects could be subdivided into seven subcategories:

1. middle ear dysfunction

2. mild cochlear pathology

3. central/medial olivocochlear efferent system (MOCS) auditory dysfunction

4. purely psychological problems

5. multiple auditory pathologies

6. combined auditory dysfunction and psychological problems

7. unknown

Different subgroups may represent different pathogenic and aetiological factors. Thus, subcategorization provides further understanding of the basis of King–Kopetzky syndrome, and hence may guide the rehabilitative management of these patients.This was suggested by Professor Dafydd Stephens and F Zhao at the Welsh Hearing Institute, Cardiff University.

Anencephaly can often be diagnosed before birth through an ultrasound examination. The maternal serum alpha-fetoprotein (AFP screening) and detailed fetal ultrasound can be useful for screening for neural tube defects such as spina bifida or anencephaly.