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Inclusion Criteria
- Diagnosis of ANSD (based on evidence from ABR testing, OAEs and tympanometry) - Apparently non-syndromic - Completed Visual Evoked Potentials examination - Normal vestibulocochlear nerves and cochlear morphology on MRI scanning - Absence of clinically apparent peripheral neuropathy
Exclusion Criteria
- Prematurity (<37 weeks gestation or requiring >48 hours NICU ) - Severe jaundice - Known syndrome - Peripheral neuropathy
Prior Genetic Testing
- Results should have been reviewed for all genetic tests undertaken, including disease-relevant genes in exome sequencing data. The patient is not eligible if they have a molecular diagnosis for their condition. - Genetic testing should continue according to routine local practice for this phenotype regardless of recruitment to the project; results of these tests must be submitted via the ‘Genetic investigations’ section of the data capture tool to allow comparison of WGS with current standard testing. PLEASE NOTE: The sensitivity of WGS compared to current diagnostic genetic testing has not yet been established. It is therefore important that tests which are clinically indicated under local standard practice continue to be carried out.
Genes
Testing of the following genes should be carried out PRIOR TO RECRUITMENT where this is in line with current local practice: - OPA1 if VEP prolonged
Closing Statement
These requirements will be kept under continual review during the main programme and may be subject to change.
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Abnormality of the vestibulocochlear nerve
Abnormality of the vestibulocochlear nerve, the eighth cranial nerve, which is involved in transmitting sound and equilibrium information from the inner ear to the brain.
Sensorineural hearing impairment
A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve. Comment: Hearing loss caused by damage or dysfunction of the auditory nerve (cranial nerve VIII, also known as the cochlear nerve).
High-frequency hearing impairment
A type of hearing impairment affecting primarily the higher frequencies of sound (3,000 to 6,000 Hz). Comment: High frequency hearing impairment often involves loss of ability to hear consonants such as s, f, t, and z, even though vowels can be heard normally.
Mid-frequency hearing loss
A type of hearing impairment affecting primarily the middle frequencies of sound (1000 Hz to 3000 Hz).
Low-frequency hearing loss
A type of hearing impairment affecting primarily the low frequencies of sound (125 Hz to 1000 Hz).
Conductive hearing impairment
An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound. Comment: A conductive hearing impariment with greater than 90 dB loss.
Abnormality of the auditory canal
An abnormality of the External acoustic tube (also known as the auditory canal).
Abnormality of the internal auditory canal
An abnormality of the Internal acoustic meatus, i.e., of the canal in the petrous part of the temporal bone through which the cranial nerve VII and cranial nerve VIII traverse.
Abnormality of the middle ear
An abnormality of the middle ear.
Abnormality of the middle ear ossicles
An abnormality of the middle-ear ossicles (three small bones called malleus, incus, and stapes) that are contained within the middle ear and serve to transmit sounds from the air to the fluid-filled labyrinth (cochlea).
Aplasia/Hypoplasia of the middle ear
Aplasia or developmental hypoplasia of all or part of the middle ear.
Morphological abnormality of the vestibule of the inner ear
A morphological abnormality of the vestibule, the central part of the osseous labyrinth that is situated medial to the tympanic cavity, behind the cochlea, and in front of the semicircular canals.
Abnormality of cochlea
An abnormality of the cochlea. Comment: The cochlea is an inner ear structure comprised of a snail-shell like structure divided into three fluid-filled parts. Two are canals for the transmission of pressure and in the third is the organ of Corti, which detects pressure impulses and responds with electrical impulses which travel along the auditory nerve to the brain.
Abnormality of the cochlear nerve
Hypoplasia of the vestibular nerve
Underdevelopment of the vestibular nerve.
Aplasia of the vestibular nerve.
Absence of the vestibular nerve Comment: May be seen in CHARGE syndrome.
Morphological abnormality of the semicircular canal
An abnormality of the morphology of the semicircular canal.
Persistent stapedial artery
Persistence of the stapedial artery, which normally regresses during embryonic life.
Vestibular dysfunction
An abnormality of the functioning of the vestibular apparatus. Comment: The vestibular apparatus is the nonauditory portion of the inner ear that mediates the subjective sensation of motion and spatial orientation of the head, adjusts muscular activity and body position to maintain posture, and stabilizes in space the fixation point of the eyes when the head moves, in order to provide a stable image upon the retina. The functioning of the vestibular system is often checked clinically by means of the caloric test, in which the head is tilted backward by about 60 degrees and either warm or cold water is introduced into the external auditory meatus on one side. The immediate results are usually vertigo, nausea, nystagmus, and twisting of the head and body.
Abnormal speech discrimination
A type of hearing impairment prominently characterized by a difficulty in understanding speech, rather than an inability to hear speech. Poor speech discrimination is a very common symptom of high frequency hearing loss.
Tinnitus
Tinnitus is an auditory perception that can be described as the experience of sound, in the ear or in the head, in the absence of external acoustic stimulation.
Hyperacusis
Over-sensitivity to certain frequency ranges of sound. Comment: Hyperacusis refers to a general hypersensitivity to sound of any frequency, and phonophobia to an anxious sensitivity towards specific sound largely independent of its volume. Hyperacusis and phonophobia represent disturbances of central auditory processing without peripheral pathology, often combined with psychosomatic reactions.
Otitis media
Inflammation or infection of the middle ear.
Cholesteatoma
Cholesteatoma is a benign but potentially destructive growth consisting of keratinizing epithelium located in the middle ear and/or mastoid process. In cholesteatoma, a skin cyst grows into the middle ear and mastoid. The cyst is not cancerous but can erode tissue and cause destruction of the ear.
Neoplasm of the middle ear
A tumor (abnormal growth of tissue) of the middle ear.
Abnormality of the outer ear
An abnormality of the external ear.
Abnormal location of ears
Abnormal location of the ear.
Abnormality of periauricular region
Abnormality of earlobe
An abnormality of the lobule of pinna.
Abnormality of the antihelix
An abnormality of the antihelix. Comment: An abnormal form of the antihelix, which is the curved prominence of cartilage, parallel with and in front of the helix, and which divides into the crura antihelicis, between which is a triangular depression, the fossa triangularis.
Abnormality of the helix
An abnormality of the helix. The helix is the outer rim of the ear that extends from the insertion of the ear on the scalp (root) to the termination of the cartilage at the earlobe.
Crumpled ear
Distortion of the course of the normal folds of the ear and the appearance of supernumerary crura and folds. Comment: This is distinct from Stahl ear and Shell ear, with which the term has sometimes been conflated. The appearance often changes markedly after birth.
Cryptotia
Invagination of the superior part of the auricle under a fold of temporal skin. Comment: There are associated anomalies of the upper antihelix and crura. The upper one-third of the auricle is primarily affected and there is an inferomedial displacement of the Helical Darwin tubercle. Two types are recognized. Type I: the antihelix and superior crus are reduced in size; type II: it is the antihelix and inferior crus that are affected.
Cupped ear
Laterally protruding ear that lacks antihelical folding (including absence of inferior and superior crura).
Macrotia
Median longitudinal ear length greater than two standard deviations above the mean and median ear width greater than two standard deviations above the mean (objective); or, apparent increase in length and width of the pinna (subjective). Comment: This is acknowledged to be a bundled term but retained here because of its usefulness in practice. Ear length is determined by the maximal distance from the superior aspect to the inferior aspect of the external ear. If only length is increased the term Long ear should be used.
Microtia
Underdevelopment of the external ear. Comment: The definitions of microtia follow a widely used, surgically based, classification of ear anomalies outlined by Weerda 1988. As microtia indicates at least both decreased length and width, and in more severe forms it includes abnormal shape of structures, all forms are acknowledged to be bundled terms, but are retained here because they are well established.
Anotia
Complete absence of any auricular structures. Comment: Complete absence of the auricle (external ear). The skin of the cheek passes smoothly over the aural area without definite elevation or depression.
Polyotia
The presence of an extra auricle on one or both sides of the head.
Protruding ear
Angle formed by the plane of the ear and the mastoid bone greater than the 97th centile for age (objective); or, outer edge of the helix more than 2 cm from the mastoid at the point of maximum distance (objective).
Calcification of the auricular cartilage
Ossification affecting the external ear cartilage.
Cystic lesions of the pinnae
Telangiectasia of the ear
The presence of telangiectasia of the ear.
Asymmetry of the ears
An asymmetriy, i.e., difference in size, shape or position between the left and right ear.
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- Auditory Brainstem Response
Results of Auditory Brainstem Response test
- Otoacoustic Emissions
Results of Otoacoustic Emissions test
- General Imaging Diagnostics
General imaging diagnostics report to capture reports that aren't included in the specific subclasses. Inherits all the elements in the abstract Imaging Diagnostics class and the abstract Investigation Class.
- Auditory Brainstem Response