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Audiological and genetics studies in high-risk infants
Maria Francisca Colella-Santos1, Maria de Fátima de Campos Françozo, Christiane Marques do Couto
1Curso de Fonoaudiologia, Faculdade de Ciências Médicas, Unicamp.
Insights
High-risk infants failing newborn hearing screening often have hearing loss, with term infants being more affected. Further medical and genetic evaluations are crucial for understanding the causes of hearing impairment in this population.
Area of Science:
- Pediatrics
- Audiology
- Genetics
Background:
- Hearing is crucial for social integration and understanding the external world.
- Newborn hearing screening identifies infants with potential hearing deficits.
- High-risk infants require comprehensive follow-up evaluations after failing initial screening.
Purpose of the Study:
- To analyze hearing, medical, and genetic evaluations of high-risk infants who failed newborn hearing screening.
- To identify the prevalence and types of hearing loss in this vulnerable population.
- To investigate potential risk factors and genetic etiologies associated with hearing loss.
Main Methods:
- A clinical and experimental study involving 38 neonates (1-6 months old).
- Procedures included medical interviews, immittance testing, Brainstem Auditory Evoked Potential (BAEP), Transient Evoked Otoacoustic Emissions (TEOAE), and otorhinolaryngological evaluations.
- DNA extraction from oral mucosa was performed for genetic analysis.
Main Results:
- Hearing loss was identified in 58% of the high-risk infants.
- Conduction hearing loss was present in 31.5% and sensorineural hearing loss in 28.9% of cases.
- No statistically significant differences were found regarding gender or risk factors; term infants showed a higher prevalence of hearing loss. Common genetic mutations were not detected.
Conclusions:
- The majority of high-risk infants evaluated had some form of hearing loss.
- Hearing loss is a significant issue in high-risk infants requiring thorough investigation.
- Further research is needed to identify the specific causes of hearing loss in these infants, especially when common genetic mutations are absent.
Unlabelled:
Hearing is one of the main ways with which one person can contact the external world; it plays a key role in their integration with society.
Aim:
The objective of this study was to analyze the results of the hearing, medical and genetic evaluation of high-risk infants who failed the newborn hearing screening.
Materials And Methods:
Clinical and experimental study. We assessed thirty-eight neonates, with ages between one and six months. The infants underwent the following procedures: medical interview; immittance testing; Brainstem Auditory Evoked Potential; Transient Evoked Otoacoustic Emission and otorhinolaryngological evaluation. DNA extraction from the oral mucosa was performed for genetic studies using the protocol method adapted from the Human Genetics Lab of the CBMEG/UNICAMP.
Results:
Regarding gender and presence of risk factors, significant statistically differences were not found in normal hearing infants and in those with hearing loss. Concerning gestational age, term infants were more affected by hearing loss. Hearing loss was identified in 58% of the sample, conduction hearing loss represented 31.5% (12/38) and neurossensory 28.9% of cases. There were none of the genetic mutations most commonly seen in cases with a genetic etiology.
Conclusion:
Hearing loss was identified in the majority of High-risk infants.
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