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Neuro-rehabilitation Approach for Sudden Sensorineural Hearing Loss
Published on: January 25, 2016
Genetic hearing impairment
Jovana Ječmenica1, Aleksandra Bajec-Opančina, Dragan Ječmenica
1Unit of Audiology and Neurootology, Institute for Mother and Child Health Care of Serbia "Dr Vukan Čupić", Radoja Dakica 8-12 Street, Belgrade, 11000, Serbia, jovanajec@gmail.com.
Insights
Genetic factors significantly contribute to hearing loss in newborns and intensive care unit patients. Identifying genetic diseases and syndromes is crucial for diagnosing various forms of hearing impairment.
Area of Science:
- Genetics
- Otolaryngology
- Pediatrics
Background:
- Hearing loss affects 3 in 1000 newborns, with profound congenital deafness being a significant concern.
- Incidence of hearing loss is higher in intensive care unit (ICU) populations, reaching 1 in 50 children.
Purpose of the Study:
- To identify genetic diseases and syndromes associated with hearing impairment.
- To elucidate the genetic basis of conductive and sensorineural hearing loss.
Main Methods:
- Review of clinical features of genetic syndromes.
- Comprehensive evaluation including pediatric examination.
- Radiological imaging (CT, MRI) and genetic testing for suspected hereditary disorders.
Main Results:
- Nonsyndromic autosomal recessive hearing loss accounts for 56% of cases.
- Syndromic recessive hearing loss constitutes 30% of cases.
- Nonsyndromic autosomal dominant hearing loss is observed in 12%, and X-linked/mitochondrial forms in 2%.
Conclusions:
- Numerous pathological conditions, including genetic, infectious, and metabolic factors, can cause hearing loss.
- Knowledge of clinical features of genetic syndromes is vital for diagnosis.
- Integrated diagnostic approaches combining clinical, radiological, and genetic evaluations are essential.
Introduction:
Three out of 1000 newborns are affected by a hearing loss, one of these being profound congenital deafness, whereas in the population of children treated in the intensive care unit, the incidence is 1:50. The purpose of this paper is to show in which genetic diseases and syndromes that hearing impairment can occur.
Discussion:
A large number of pathological conditions, (genetic, infectious, and metabolic) can manifest themselves in a conductive or sensorineural hearing loss. Nonsyndromic autosomal recessive hearing loss is found in 56 % of cases, syndromic recessive in 30 %, nonsyndromic autosomal dominant in 12 %, and nonsyndromic related to the X chromosome and mitochondrial in 2 % of the cases.
Conclusion:
To make a diagnosis, the knowledge of clinical features of genetic syndromes is of paramount importance. Complete evaluation includes pediatric examination, bone and soft tissue radiological visualization, i.e., computed tomography and nuclear magnetic resonance, and finally genetic tests in cases where a hereditary disorder is suspected or identified.
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