Prevalence of hearing loss and clinical otologic manifestations in patients with 22q11.2 deletion syndrome: A literature review

2017 ◽  
Vol 42 (6) ◽  
pp. 1319-1328 ◽  
Author(s):  
E. Verheij ◽  
L.S.M. Derks ◽  
I. Stegeman ◽  
H.G.X.M. Thomeer
Keyword(s):  
Hearing Loss ◽  
Literature Review ◽  
22Q11.2 Deletion Syndrome ◽  
Deletion Syndrome ◽  
22Q11.2 Deletion

scholarly journals Hearing Loss in a Mouse Model of 22q11.2 Deletion Syndrome

PLoS ONE ◽  
2013 ◽  
Vol 8 (11) ◽  
pp. e80104 ◽  
Author(s):  
Jennifer C. Fuchs ◽  
Fhatarah A. Zinnamon ◽  
Ruth R. Taylor ◽  
Sarah Ivins ◽  
Peter J. Scambler ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Mouse Model ◽  
22Q11.2 Deletion Syndrome ◽  
Deletion Syndrome ◽  
22Q11.2 Deletion

scholarly journals Case Report: Ménière's Disease-Like Symptoms in 22q11.2 Deletion Syndrome

2021 ◽  
Vol 12 ◽  
Author(s):  
Kwang-Dong Choi ◽  
Jeong-Yeon Kim ◽  
Seo-Young Choi ◽  
Eun Hye Oh ◽  
Hyun-Min Lee ◽  
...  
Keyword(s):  
Hearing Loss ◽  
22Q11.2 Deletion Syndrome ◽  
Meniere’S Disease ◽  
Deletion Syndrome ◽  
Meniere's Disease ◽  
Ménière’S Disease ◽  
Menière's Disease ◽  
22Q11.2 Deletion ◽  
Ménière's Disease ◽  
Fluctuating Hearing Loss

The 22q11.2 deletion syndrome (22q11.2DS), caused by a microdeletion on the long arm of chromosome 22, is characterized by congenital heart disease, hypoparathyroidism, immunodeficiency, developmental delay, and velopharyngeal insufficiency. Anatomic malformations of the middle and inner ears are frequently present, leading to high prevalence of hearing impairment. We present a first case of 22q11.2DS showing fluctuating hearing loss with recurrent vertigo attacks, resembling Ménière's disease. A 38-year-old male known to have 22q11.2DS developed recurrent vertigo, tinnitus, and fluctuating hearing loss in the left ear during a 10-year follow-up period. During vertigo attack, he had spontaneous left-beating nystagmus with downbeat components, but bithermal caloric and video head impulse tests showed normal vestibulo-ocular reflex functions. Sequential pure tone audiograms demonstrated fluctuating sensorineural hearing loss (SNHL) in both ears, which finally progressed to permanent hearing loss in the left ear. Computed tomography imaging of the temporal bone exhibited bilaterally malformed lateral semicircular canals, and delayed 3D-FLAIR sequences revealed cochlear endolymphatic hydrops with dilation of the scala media in the left ear. This case shows that acute vertigo with SNHL can be one of the audiovestibular presentations in 22q11.2DS caused by disturbance of endolymphatic flow.

scholarly journals Hearing loss promotes schizophrenia-relevant brain and behavioral abnormalities in a mouse model of human 22q11.2 Deletion Syndrome

2019 ◽  
Author(s):  
Fhatarah A. Zinnamon ◽  
Freya G. Harrison ◽  
Sandra S. Wenas ◽  
Arne F. Meyer ◽  
Qing Liu ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Mouse Model ◽  
Auditory Cortex ◽  
Conductive Hearing Loss ◽  
Sensorimotor Gating ◽  
22Q11.2 Deletion Syndrome ◽  
Deletion Syndrome ◽  
22Q11.2 Deletion ◽  
Behavioral Abnormalities ◽  
Conductive Hearing

ABSTRACTHearing loss has been implicated as a risk factor for schizophrenia, but it is not known whether this association arises from common etiology, top-down influences (e.g., social isolation), bottom-up neurobiological mechanisms, or combinations of these factors. Patients with 22q11.2 Deletion Syndrome (22q11.2DS) have a 25-30% risk of developing schizophrenia, and also suffer frequent hearing loss. Here, we used the Df1/+ mouse model of 22q11.2DS to investigate the relationship between hearing loss and susceptibility to schizophrenia-relevant brain and behavioral abnormalities. Df1/+ mice have a multi-gene deletion analogous to the chromosomal microdeletion that causes human 22q11.2DS, and like human 22q11.2DS patients exhibit high rates of hearing loss arising primarily from susceptibility to middle ear inflammation. We found that hearing loss in Df1/+ mice affected schizophrenia-relevant endophenotypes, including electrophysiological measures of central auditory gain and behavioral measures of auditory sensorimotor gating. Moreover, PV+ inhibitory interneurons, another marker for schizophrenia pathology, were significantly reduced in density in auditory cortex but not secondary motor cortex of Df1/+ mice with hearing loss. These results reveal bottom-up neurobiological mechanisms through which peripheral hearing loss arising from the 22q11.2 deletion may promote the emergence of schizophrenia-relevant auditory brain and behavioral abnormalities, and also suggest a link between conductive hearing loss and reduced PV+ interneuron density in the auditory cortex.SIGNIFICANCE STATEMENTHearing loss is a known risk factor for schizophrenia. Deletion of chromosomal locus 22q11.2 is associated with both schizophrenia and hearing loss in humans. In the Df1/+ mouse model of human 22q11.2 Deletion Syndrome, we find that hearing loss shapes measures that are considered schizophrenia-relevant endophenotypes, such as central auditory gain and auditory sensorimotor gating. Moreover, we report a reduction in density of PV+ inhibitory interneurons in the auditory cortex, but not secondary motor cortex, of Df1/+ mice with hearing loss. These results suggest mechanisms through which hearing loss associated with the 22q11.2 deletion may promote emergence of schizophrenia-relevant auditory brain and behavioral abnormalities and indicate that conductive hearing loss may influence PV+ interneuron density in the auditory cortex.

scholarly journals Correction: Hearing Loss in a Mouse Model of 22q11.2 Deletion Syndrome

PLoS ONE ◽  
2014 ◽  
Vol 9 (1) ◽  
Author(s):  
Jennifer C. Fuchs ◽  
Fhatarah A. Zinnamon ◽  
Ruth R. Taylor ◽  
Sarah Ivins ◽  
Peter J. Scambler ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Mouse Model ◽  
22Q11.2 Deletion Syndrome ◽  
Deletion Syndrome ◽  
22Q11.2 Deletion

Prevalence and Nature of Hearing Loss in 22q11.2 Deletion Syndrome

2016 ◽  
Vol 59 (3) ◽  
pp. 583-589 ◽  
Author(s):  
Charlotte Van Eynde ◽  
Ann Swillen ◽  
Elien Lambeens ◽  
Nicolas Verhaert ◽  
Christian Desloovere ◽  
...  
Keyword(s):  
Hearing Loss ◽  
High Frequency ◽  
Bone Conduction ◽  
Hearing Threshold ◽  
22Q11.2 Deletion Syndrome ◽  
Lower Percentage ◽  
Deletion Syndrome ◽  
Distortion Product Otoacoustic Emission ◽  
22Q11.2 Deletion ◽  
Distortion Product

Purpose The purpose of this study was to clarify the prevalence, type, severity, and age-dependency of hearing loss in 22q11.2 deletion syndrome. Method Extensive audiological measurements were conducted in 40 persons with proven 22q11.2 deletion (aged 6–36 years). Besides air and bone conduction thresholds in the frequency range between 0.125 and 8.000 kHz, high-frequency thresholds up to 16.000 kHz were determined and tympanometry, acoustic reflex (AR) measurement, and distortion product otoacoustic emission (DPOAE) testing were performed. Results Hearing loss was identified in 59% of the tested ears and was mainly conductive in nature. In addition, a high-frequency sensorineural hearing loss with down-sloping curve was found in the majority of patients. Aberrant tympanometric results were recorded in 39% of the ears. In 85% of ears with a Type A or C tympanometric peak, ARs were absent. A DPOAE response in at least 6 frequencies was present in only 23% of the ears with a hearing threshold ≤30 dB HL. In patients above 14 years of age, there was a significantly lower percentage of measurable DPOAEs. Conclusion Hearing loss in 22q11.2 deletion syndrome is highly prevalent and both conductive and high-frequency sensorineural in nature. The age-dependent absence of DPOAEs in 22q11.2 deletion syndrome suggests cochlear damage underlying the high-frequency hearing loss.

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