Vestibulo-ocular reflex dynamics with head-impulses discriminates Usher patients type 1 and 2
Abstract Usher Syndrome classification takes into account the absence of vestibular function but its correlation with genotype is not well characterized. We intend to investigate whether video Head Impulse Test (vHIT) is useful in screening and to differentiate Usher Syndrome types. 29 Usher patient...
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Nature Portfolio
2024-02-01
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| Series: | Scientific Reports |
| Online Access: | https://doi.org/10.1038/s41598-024-54270-y |
| _version_ | 1827327962779746304 |
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| author | Ana Margarida Amorim Ana Beatriz Ramada Ana Cristina Lopes Eduardo Duarte Silva João Lemos João Carlos Ribeiro |
| author_facet | Ana Margarida Amorim Ana Beatriz Ramada Ana Cristina Lopes Eduardo Duarte Silva João Lemos João Carlos Ribeiro |
| author_sort | Ana Margarida Amorim |
| collection | DOAJ |
| description | Abstract Usher Syndrome classification takes into account the absence of vestibular function but its correlation with genotype is not well characterized. We intend to investigate whether video Head Impulse Test (vHIT) is useful in screening and to differentiate Usher Syndrome types. 29 Usher patients (USH) with a genetically confirmed diagnosis and 30 healthy controls were studied with vHIT and dizziness handicap inventory questionnaire (DHI). Statistical significant differences between USH1, USH2 and controls were found in the vestibulo-ocular-reflex (VOR) gain of all SCCs, with USH1 patients consistently presenting smaller gains. VOR gain of the right lateral SCC could discriminate controls from USH1, and USH2 from USH1 with an overall diagnostic accuracy of 90%. USH1 DHI correlated with VOR (ρ = − 0,971, p = 0.001). Occurrence rate of covert and overt lateral semicircular canals refixation saccades (RS) was significantly different between groups, being higher in USH1 patients (p < 0.001). USH1 peak velocity of covert and overt saccades was higher for lateral semicircular canals (p < 0.05 and p = 0.001) compared with USH2 and controls. Covert saccades occurrence rate for horizontal SCCs could discriminate USH1 from USH2 patients and controls with a diagnostic accuracy of 85%. vHIT is a fast and non-invasive instrument which allowed us to screen and distinguish Usher patients from controls with a high precision. Importantly, its use allowed further discrimination between USH1 from USH2 groups. Moreover, VOR gain seems to correlate with vertigo-related quality of life in more severe phenotypes. |
| first_indexed | 2024-03-07T15:10:02Z |
| format | Article |
| id | doaj.art-5649328b1a194e2b9d88021a856b1975 |
| institution | Directory Open Access Journal |
| issn | 2045-2322 |
| language | English |
| last_indexed | 2024-03-07T15:10:02Z |
| publishDate | 2024-02-01 |
| publisher | Nature Portfolio |
| record_format | Article |
| series | Scientific Reports |
| spelling | doaj.art-5649328b1a194e2b9d88021a856b19752024-03-05T18:40:37ZengNature PortfolioScientific Reports2045-23222024-02-011411910.1038/s41598-024-54270-yVestibulo-ocular reflex dynamics with head-impulses discriminates Usher patients type 1 and 2Ana Margarida Amorim0Ana Beatriz Ramada1Ana Cristina Lopes2Eduardo Duarte Silva3João Lemos4João Carlos Ribeiro5Department of Otorhinolaryngology, Coimbra University Hospital CentreDepartment of Otorhinolaryngology, Coimbra University Hospital CentreDepartment of Otorhinolaryngology, Coimbra University Hospital CentreDepartment of Ophthalmology, Central Lisbon Hospital CentreFaculty of Medicine, University of CoimbraDepartment of Otorhinolaryngology, Coimbra University Hospital CentreAbstract Usher Syndrome classification takes into account the absence of vestibular function but its correlation with genotype is not well characterized. We intend to investigate whether video Head Impulse Test (vHIT) is useful in screening and to differentiate Usher Syndrome types. 29 Usher patients (USH) with a genetically confirmed diagnosis and 30 healthy controls were studied with vHIT and dizziness handicap inventory questionnaire (DHI). Statistical significant differences between USH1, USH2 and controls were found in the vestibulo-ocular-reflex (VOR) gain of all SCCs, with USH1 patients consistently presenting smaller gains. VOR gain of the right lateral SCC could discriminate controls from USH1, and USH2 from USH1 with an overall diagnostic accuracy of 90%. USH1 DHI correlated with VOR (ρ = − 0,971, p = 0.001). Occurrence rate of covert and overt lateral semicircular canals refixation saccades (RS) was significantly different between groups, being higher in USH1 patients (p < 0.001). USH1 peak velocity of covert and overt saccades was higher for lateral semicircular canals (p < 0.05 and p = 0.001) compared with USH2 and controls. Covert saccades occurrence rate for horizontal SCCs could discriminate USH1 from USH2 patients and controls with a diagnostic accuracy of 85%. vHIT is a fast and non-invasive instrument which allowed us to screen and distinguish Usher patients from controls with a high precision. Importantly, its use allowed further discrimination between USH1 from USH2 groups. Moreover, VOR gain seems to correlate with vertigo-related quality of life in more severe phenotypes.https://doi.org/10.1038/s41598-024-54270-y |
| spellingShingle | Ana Margarida Amorim Ana Beatriz Ramada Ana Cristina Lopes Eduardo Duarte Silva João Lemos João Carlos Ribeiro Vestibulo-ocular reflex dynamics with head-impulses discriminates Usher patients type 1 and 2 Scientific Reports |
| title | Vestibulo-ocular reflex dynamics with head-impulses discriminates Usher patients type 1 and 2 |
| title_full | Vestibulo-ocular reflex dynamics with head-impulses discriminates Usher patients type 1 and 2 |
| title_fullStr | Vestibulo-ocular reflex dynamics with head-impulses discriminates Usher patients type 1 and 2 |
| title_full_unstemmed | Vestibulo-ocular reflex dynamics with head-impulses discriminates Usher patients type 1 and 2 |
| title_short | Vestibulo-ocular reflex dynamics with head-impulses discriminates Usher patients type 1 and 2 |
| title_sort | vestibulo ocular reflex dynamics with head impulses discriminates usher patients type 1 and 2 |
| url | https://doi.org/10.1038/s41598-024-54270-y |
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