Aida María Berenguel Hernandez

Dr. Aida María Berenguel Hernandez

Universidad Pablo de Olavide, Seville, Spain
orcid

Research Focus & Metrics

Academic Career Length

4Years (2023-Present)

(Calculated once Scilit publication data is synced: current year − year of first publication + 1)

Representative Publications

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29 June 2023 in Healthcare
Verified
Journal Article
Open access
PDF file
GEGema Esteban-Bueno
Gema Esteban-Bueno
AHAida María Berenguel Hernandez
Aida María Berenguel Hernandez
NFNicolás Fernández Fernández
Nicolás Fernández Fernández
MCMiguel Navarro Cabrero
Miguel Navarro Cabrero
Juan R. CocaJuan R. Coca
Juan R. Coca
Wolfram syndrome (WS) is a rare neurodegenerative disease usually of autosomal recessive origin. There is limited research about sensorineural hearing loss, despite it being a fundamental entity. It is important to broaden the study of this disease and specify a set of tests required for an adequate assessment of patients for efficient monitoring and control. The fundamental objective of this research is to understand WS from a biomedical perspective in order to help in its diagnosis, follow-up, and control. Pure tones audiometry, tympanometry, speech perception, the speech intelligibility index without aid, and testing at high frequencies were among the audiological measurements utilised since they were deemed suitable for standardised follow-up. Mixed linear models were used to examine the effects of age, time, or mean interaction in pure-tone (IPT), the average of high frequencies (HFA), auditory brainstem response (ABR), and brainstem auditory evoked potentials (BAEP). The genetic analysis allowed mutations to be classified into three phenotype-genotype groups, where the phenotype indicated the severity of the hearing loss. Patients with homozygous gene changes had a more severe neurosensory phenotype. The early discovery of sensorineural hearing loss and WS is crucial since it allows intensive follow-up and treatment of the person affected from the start.