Publication
Vestibulo-Ocular Reflex Dynamics with Head-Impulses Discriminates Usher Patients Type 1 and 2
| dc.contributor.author | Amorim, AM | |
| dc.contributor.author | Ramada, AB | |
| dc.contributor.author | Lopes, AC | |
| dc.contributor.author | Duarte Silva, E | |
| dc.contributor.author | Lemos, J | |
| dc.contributor.author | Ribeiro, JC | |
| dc.date.accessioned | 2024-05-22T14:26:15Z | |
| dc.date.available | 2024-05-22T14:26:15Z | |
| dc.date.issued | 2024 | |
| dc.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. | pt_PT |
| dc.description.version | info:eu-repo/semantics/publishedVersion | pt_PT |
| dc.identifier.citation | Sci Rep . 2024 Feb 14;14(1):3701. | pt_PT |
| dc.identifier.doi | 10.1038/s41598-024-54270-y | pt_PT |
| dc.identifier.uri | http://hdl.handle.net/10400.17/4914 | |
| dc.language.iso | eng | pt_PT |
| dc.peerreviewed | yes | pt_PT |
| dc.publisher | Nature Publishing Group | pt_PT |
| dc.subject | HDE OFT PED | pt_PT |
| dc.subject | Humans | pt_PT |
| dc.subject | Head Impulse Test | pt_PT |
| dc.subject | Vertigo | pt_PT |
| dc.subject | Quality of Life | pt_PT |
| dc.subject | Reflex, Vestibulo-Ocular* | pt_PT |
| dc.subject | Saccades | pt_PT |
| dc.subject | Usher Syndromes* / diagnosis | pt_PT |
| dc.subject | Usher Syndromes* / genetics | pt_PT |
| dc.title | Vestibulo-Ocular Reflex Dynamics with Head-Impulses Discriminates Usher Patients Type 1 and 2 | pt_PT |
| dc.type | journal article | |
| dspace.entity.type | Publication | |
| oaire.citation.issue | 1 | pt_PT |
| oaire.citation.startPage | 3701 | pt_PT |
| oaire.citation.title | Scientific Reports | pt_PT |
| oaire.citation.volume | 14 | pt_PT |
| rcaap.rights | openAccess | pt_PT |
| rcaap.type | article | pt_PT |