RT info:eu-repo/semantics/article
T1 Neurosensory affectation in patients affected by Wolfram syndrome: Descriptive and longitudinal analysis
A1 Esteban Bueno, Gema
A1 Berenguel Hernández, Aída María
A1 Fernández Fernández, Nicolás
A1 Navarro Cabrero, Miguel
A1 Romay Coca, Juán
K1 Neurology
K1 Neuropathology
K1 Nervous system - Degeneration
K1 Nervioso, Sistema - Enfermedades
K1 Diabetes Mellitus
K1 Hearing loss
K1 Diabetes
K1 Hearing loss
K1 Audición, Trastorno de la
K1 Hearing impairment
K1 Discapacitados auditivos - Educación
K1 Human genetics
K1 Genetics
K1 Health policy
K1 Política sanitaria
K1 Public health
K1 Medical informatics
K1 Medicina - Informática
K1 Wolfram syndrome
K1 DIDMOAD
K1 3205.07 Neurología
K1 3207.11 Neuropatología
K1 3212 Salud Publica
K1 32 Ciencias Médicas
K1 1203.17 Informática
AB 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.
PB MDPI
SN 2227-9032
YR 2023
FD 2023
LK https://uvadoc.uva.es/handle/10324/66506
UL https://uvadoc.uva.es/handle/10324/66506
LA eng
NO Healthcare, 2023, Vol. 11, Nº. 3, 1888
NO Producción Científica
DS UVaDOC
RD 14-oct-2024