Prevalence of hearing loss in children with 22q11.2 deletion syndrome

Jiramongkolchai, Pawina; Kumar, Meghan Bruce; Chinnadurai, Sivakumar; Wootten, Christopher T.; Goudy, Steven L.

doi:10.1016/j.ijporl.2016.06.005

Cited by 26 publications

(46 citation statements)

References 15 publications

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“…It is important to emphasize that the 22q11.22 region has also been linked to neurological and neuropsychiatric conditions, ranging from epilepsy to schizophrenia. Neurological and neuropsychiatric disorders mainly share the same spectrum of behavior impairments including behavioral disturbances, attention deficit hyperactivity, and intellectual disability [Ben-Sachar et al, 2008;Hu et al, 2009;Alemany et al, 2015;Tang et al, 2015;Jiramongkolchai et al, 2016]. Among the genes related to the 22q11.2 region and reported to be associated with these pathologies, we mentioned the TOP3B gene, which has been confirmed in previous studies.…”

supporting

confidence: 75%

TOP3B: A Novel Candidate Gene in Juvenile Myoclonic Epilepsy?

Daghsni¹,

Lahbib

Fradj

et al. 2018

Cytogenet Genome Res

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Juvenile myoclonic epilepsy (JME) is characterized by seizures, severe cognitive abnormalities, and behavior impairments. These features could evolve over time and get worse, especially when the encephalopathy is pharmacoresistant. Thus, genetic studies should provide a better understanding of infantile epilepsy syndromes. Herein, we investigate the genetics of JME in a consanguineous family analyzing the copy number variations detected using over 700 K SNP arrays. We identified a 254-kb deletion in the 22q11.2 region, including only the TOP3B gene, detected in the patient and her father. TOP3B encodes a topoisomerase DNA (III) β protein and has been implicated in several neurological diseases such as schizophrenia and autism. In this study, we discuss the implication of the 22q11.2 region in neurodevelopmental disorders and the association of TOP3B with epilepsy.

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supporting

confidence: 75%

TOP3B: A Novel Candidate Gene in Juvenile Myoclonic Epilepsy?

Daghsni¹,

Lahbib

Fradj

et al. 2018

Cytogenet Genome Res

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show abstract

“…Also, the frequencies at which the PTA was calculated differed as some authors used 0.5, 1 and 2 kHz, others used the frequencies 0.5, 1, 2 and 4 kHz, and one study defined hearing loss at a hearing threshold below 15 dB at any frequency . In two articles, the method of calculation was not mentioned . Rates of hearing loss, all types of hearing loss included, varied from 6.0% to 60.3%.…”

Section: Resultsmentioning

confidence: 99%

“…The rate of sensorineural and mixed hearing loss in the included studies differed from 0% to 19.4% and from 0% to 28.2% respectively. The severity of hearing loss was reported by nine studies and was mostly of mild severity (≤40 dB) …”

Section: Resultsmentioning

confidence: 99%

“…Twenty‐one studies reported on otologic manifestations (Table ). There were seven cross‐sectional studies describing otoscopic findings, and 16 studies reporting the medical history of otologic manifestations, including recurrent or chronic otitis media . This was either defined as the occurrence of more than three episodes per year or an episode lasting more than 30 days, three or more infections in the past six months or four or more per year, or more than ten middle ear infections .…”

Section: Resultsmentioning

confidence: 99%

“…One study reported on otologic surgery in patients’ history, which included a tympanomastoidectomy (n=1) and an ossiculoplasty (n=2) . In the study by Jiramongkolchai et al, nine patients required hearing aids.…”

Section: Resultsmentioning

confidence: 99%

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

Verheij

Derks

Stegeman

et al. 2017

Clinical Otolaryngology

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Hearing loss and history of otolaryngological conditions in adults with microdeletion 22q11.2

von Scheibler,

Widdershoven,

van Barneveld

et al. 2023

American J of Med Genetics Pt A

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Previous studies have shown that the 22q11.2 microdeletion, associated with 22q11.2 deletion syndrome (22q11.2DS), conveys an increased risk of chronic otitis media, and hearing loss at young age. This study reports on hearing loss and history of otolaryngological conditions in adults with 22q11.2DS. We conducted a retrospective study of 60 adults with 22q11.2DS (41.7% male) at median age 25 (range 16–74) years who had visited an otolaryngologist and audiologist for routine assessment at a 22q11.2 expert center. Demographic, genetic, audiometric, and otolaryngological data were systematically extracted from the medical files. Regression analysis was used to evaluate the effect of age, sex, full‐scale intelligence quotient, and history of chronic otitis media on the severity of hearing loss. Hearing loss, mostly high‐frequency sensorineural, was found in 78.3% of adults. Higher age and history of chronic otitis media were associated with more severe hearing loss. Otolaryngological conditions with possible treatment implications included chronic otitis media (56.7%), globus pharyngeus (18.3%), balance problems (16.7%), and obstructive sleep apnea (8.3%). The results suggest that in 22q11.2DS, high‐frequency hearing loss appears to be common from a young adult age, and often unrecognized. Therefore, we recommend periodic audiometric screening in all adults, including high‐frequency ranges.

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Prevalence of hearing loss in children with 22q11.2 deletion syndrome

Cited by 26 publications

References 15 publications

<b><i>TOP3B</i></b>: A Novel Candidate Gene in Juvenile Myoclonic Epilepsy?

<b><i>TOP3B</i></b>: A Novel Candidate Gene in Juvenile Myoclonic Epilepsy?

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

Hearing loss and history of otolaryngological conditions in adults with microdeletion 22q11.2

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