{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,6]],"date-time":"2026-06-06T06:11:53Z","timestamp":1780726313599,"version":"3.54.1"},"reference-count":28,"publisher":"MDPI AG","issue":"16","license":[{"start":{"date-parts":[[2021,8,12]],"date-time":"2021-08-12T00:00:00Z","timestamp":1628726400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Italian Ministry of Health in collaboration with Sirio Medical S.r.l (Ariccia, Italy)","award":["\"RICERCA CORRENTE\" 2019"],"award-info":[{"award-number":["\"RICERCA CORRENTE\" 2019"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCM"],"abstract":"<jats:p>GNAO1 gene mutations are associated with a neurodevelopmental disorder characterized by developmental delay, epilepsy, and movement disorder. Eye tracking and eye movement analysis are an intriguing method to assess cognitive and language function and, to the best of our knowledge, it has never been tested in a standardized way in GNAO1. GNAO1 children are usually wheelchair-bound and with numerous motor constrains, including dystonic movements and postures, heterotropia, and hypotonia, making the cognitive assessment arduous. These contribute to the burden and disability, with a high level of frustration of caregivers and patients. We have herein demonstrated that, through an eye tracking system, six GNAO1 patients evaluated showed variable degrees of communicative intent through intentionally directed gaze. Moreover, three of these were able to complete a cognitive evaluation, and showed normal fluid intelligence and lexical comprehension. In conclusion, in GNAO1-related disorders, the degree of cognitive development is underestimated; eye tracking technologies may help in overcome these boundaries.<\/jats:p>","DOI":"10.3390\/jcm10163541","type":"journal-article","created":{"date-parts":[[2021,8,12]],"date-time":"2021-08-12T10:54:41Z","timestamp":1628765681000},"page":"3541","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":15,"title":["Cognitive Assessment in GNAO1 Neurodevelopmental Disorder Using an Eye Tracking System"],"prefix":"10.3390","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1554-9517","authenticated-orcid":false,"given":"Federica","family":"Graziola","sequence":"first","affiliation":[{"name":"Neurology Unit, Department of Neurosciences, Bambino Ges\u00f9 Children\u2019s Hospital, 00146 Rome, Italy"},{"name":"Department of System Medicine, University of Rome Tor Vergata, 00133 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3029-8536","authenticated-orcid":false,"given":"Giacomo","family":"Garone","sequence":"additional","affiliation":[{"name":"Neurology Unit, Department of Neurosciences, Bambino Ges\u00f9 Children\u2019s Hospital, 00146 Rome, Italy"},{"name":"University Department of Pediatrics, Bambino Ges\u00f9 Children\u2019s Hospital, University of Rome Tor Vergata, 00133 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melissa","family":"Grasso","sequence":"additional","affiliation":[{"name":"Neurology Unit, Department of Neurosciences, Bambino Ges\u00f9 Children\u2019s Hospital, 00146 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7729-7952","authenticated-orcid":false,"given":"Alessandro","family":"Capuano","sequence":"additional","affiliation":[{"name":"Neurology Unit, Department of Neurosciences, Bambino Ges\u00f9 Children\u2019s Hospital, 00146 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2021,8,12]]},"reference":[{"key":"ref_1","first-page":"2329048X15583717","article-title":"Clinical Phenotype of De Novo GNAO1 Mutation: Case Report and Review of Literature","volume":"2","author":"Talvik","year":"2015","journal-title":"Child Neurol."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"496","DOI":"10.1016\/j.ajhg.2013.07.014","article-title":"De Novo mutations in GNAO1, encoding a Galphao subunit of heterotrimeric G proteins, cause epileptic encephalopathy","volume":"93","author":"Nakamura","year":"2013","journal-title":"Am. 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