Paper Details 
Original Abstract of the Article :
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...See full text at original site
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引用元:
https://doi.org/10.1002/ajmg.a.63456

データ提供:米国国立医学図書館(NLM)

22q11.2 Microdeletion: A Hidden Oasis in the Desert of Hearing Loss

The intricate world of genetics holds countless mysteries, and the 22q11.2 microdeletion is one such enigma. This tiny but significant alteration in DNA is associated with 22q11.2 deletion syndrome (22q11.2DS), a complex genetic disorder characterized by a wide range of physical and cognitive impairments. This study focused on the prevalence of hearing loss and otolaryngological conditions in adults with 22q11.2DS. The researchers embarked on a journey into the vast desert of medical records, seeking to illuminate the connection between this microdeletion and auditory health. Their findings shed light on the prevalence and nature of hearing loss in individuals with this syndrome, offering a roadmap for better understanding and managing this critical aspect of their health.

Hearing Loss: A Common Challenge for Adults with 22q11.2DS

The research revealed a high prevalence of hearing loss (78.3%) among adults with 22q11.2DS, primarily affecting high-frequency sounds. The study found that older age and a history of chronic otitis media are associated with more severe hearing loss. These findings underscore the importance of regular audiometric screening for adults with 22q11.2DS, enabling early identification and intervention to mitigate the impact of hearing loss on their lives. This is like finding a precious oasis in the desert of auditory health, providing a source of support and care for those with this syndrome.

Navigating the Desert of Hearing Loss

Individuals with 22q11.2DS face unique challenges related to their hearing health. The study underscores the need for proactive audiometric screening in adults with 22q11.2DS, enabling early detection of hearing loss and appropriate intervention to address this critical aspect of their health. Just like a camel navigating a vast and challenging desert, these individuals need a roadmap to guide them through the challenges of hearing loss. The researchers emphasize the importance of regular audiological evaluation, including high-frequency ranges, to ensure individuals with 22q11.2DS receive the necessary support to navigate their auditory journey.

Dr. Camel's Conclusion

This study provides a valuable roadmap for navigating the desert of hearing loss in individuals with 22q11.2DS. The findings highlight the importance of early identification and intervention to minimize the impact of hearing loss, ensuring these individuals have access to the resources they need to thrive in the world of sound.

Date :
  1. Date Completed n.d.
  2. Date Revised 2023-11-02
Further Info :

Pubmed ID

37916923

DOI: Digital Object Identifier

10.1002/ajmg.a.63456

SNS
PICO Info
in preparation
Languages

English

Positive IndicatorAn AI analysis index that serves as a benchmark for how positive the results of the study are. Note that it is a benchmark and requires careful interpretation and consideration of different perspectives.

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