8th International Wolfram Symposium Presentation Dra. Gema Esteban- Bueno, Dr. Juan R. Coca, Dr. Nicolas Fernández-Fernández, Leticia Fernandez Amores, Miguel Navarro Cabrero, Dra. Aida Berenguel-Hernández and Spanish Multidisciplinary Wolfram Syndrome Group. Spain.
8th International Wolfram Symposium Presentation Dra. Gema Esteban- Bueno, Dr. Juan R. Coca, Dr. Nicolas Fernández-Fernández, Leticia Fernandez Amores, Miguel Navarro Cabrero, Dra. Aida Berenguel-Hernández and Spanish Multidisciplinary Wolfram Syndrome Group. Spain.
Descriptive analysis of 68 patients with Wolfram syndrome with emphasis on sensorineural involvement and possible phenotype-genotype correlation.
Abstract: Our work consists in providing greater knowledge of what already exists in the Wolfram Syndrome phenotype with special attention to hearing loss, through a descriptive and longitudinal study of two sets of patients affected from Spain and Portugal. The first set (descriptive study) contain a registry with patients that have been appearing since 1999, and the second set collects data from multidisciplinary assessments that have been carried out in Spain since 2011 year after year (longitudinal study).
In turn, a brief study of the genotype-phenotype relationship of the hearing loss that exists in patients of Spain and Portugal with Wolfram Syndrome has been carried out, based on the genetic data collected by our team.
Point noted:
· Spanish and Portuguese families are evaluated through a multi-disciplinary team, who are in regular contact – to listen to families; accumulate experience and provide biopsychosocial support.
· Currently assessing 2 patient populations (second set is a sub-set of the first).
· No definitive pattern can be established for hearing loss or progression. Homozygous genetic changes are more severe.
· The team actively participates in the WS Global Awareness Day and plan more activities for 2023.
· The team are keen to collaborate with other groups / researchers to help drive change for families – valuable dataset.
· University of Birmingham group (through Dr Renuka Dias) has been assessing gonadal function – connecting with the team in Spain may be helpful.