{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,27]],"date-time":"2025-10-27T01:37:21Z","timestamp":1761529041352,"version":"build-2065373602"},"reference-count":65,"publisher":"MDPI AG","issue":"6","license":[{"start":{"date-parts":[[2025,10,24]],"date-time":"2025-10-24T00:00:00Z","timestamp":1761264000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatric Reports"],"abstract":"<jats:p>Bosch\u2013Boonstra\u2013Schaaf optic atrophy syndrome (BBSOAS) is an extremely rare neurological condition caused by a disruption in the NR2F-1 gene. The most common clinical features are optic atrophy and intellectual and developmental delay. This case report aims to describe the cognitive and language profile of a six-year-old girl diagnosed with BBSOAS, with a focus on the syndrome\u2019s impact on her developmental outcomes. A detailed assessment of her cognitive and speech\u2013language abilities is provided. Given the limited number of published case studies on BBSOAS, this report integrates relevant findings from the literature, including information on epidemiology, diagnostics, clinical manifestations, and developmental outcomes. It contributes to the expansion of the known mutational spectrum of BBSOAS, in addition to documenting its phenotypic presentation of cognitive and speech\u2013language development. The case is analyzed within the context of current evidence, emphasizing the importance of early assessment, individualized intervention, ongoing developmental monitoring, and the potential for tailored support to promote optimal developmental outcomes.<\/jats:p>","DOI":"10.3390\/pediatric17060112","type":"journal-article","created":{"date-parts":[[2025,10,27]],"date-time":"2025-10-27T00:51:42Z","timestamp":1761526302000},"page":"112","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Language and Cognitive Features in a Girl with Bosch\u2013Boonstra\u2013Schaaf Optic Atrophy Syndrome"],"prefix":"10.3390","volume":"17","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9004-5119","authenticated-orcid":false,"given":"Ivana","family":"Bogavac","sequence":"first","affiliation":[{"name":"Cognitive Neuroscience Department, Research and Development Institute \u201cLife Activities Advancement Institute\u201d, 11000 Belgrade, Serbia"},{"name":"Department of Speech, Language and Hearing Sciences, Institute for Experimental Phonetics and Speech Pathology, 11000 Belgrade, Serbia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0391-1366","authenticated-orcid":false,"given":"Ljiljana","family":"Jeli\u010di\u0107","sequence":"additional","affiliation":[{"name":"Cognitive Neuroscience Department, Research and Development Institute \u201cLife Activities Advancement Institute\u201d, 11000 Belgrade, Serbia"},{"name":"Department of Speech, Language and Hearing Sciences, Institute for Experimental Phonetics and Speech Pathology, 11000 Belgrade, Serbia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3779-2737","authenticated-orcid":false,"given":"Ma\u0161a","family":"Marisavljevi\u0107","sequence":"additional","affiliation":[{"name":"Cognitive Neuroscience Department, Research and Development Institute \u201cLife Activities Advancement Institute\u201d, 11000 Belgrade, Serbia"},{"name":"Department of Speech, Language and Hearing Sciences, Institute for Experimental Phonetics and Speech Pathology, 11000 Belgrade, Serbia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Milica","family":"\u0106irovi\u0107","sequence":"additional","affiliation":[{"name":"Cognitive Neuroscience Department, Research and Development Institute \u201cLife Activities Advancement Institute\u201d, 11000 Belgrade, Serbia"},{"name":"Department of Speech, Language and Hearing Sciences, Institute for Experimental Phonetics and Speech Pathology, 11000 Belgrade, Serbia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jelena","family":"\u00d0or\u0111evi\u0107","sequence":"additional","affiliation":[{"name":"Clinic for Neurology and Psychiatry for Children and Adolescents, 11000 Belgrade, Serbia"},{"name":"Department of Psychiatry, Faculty of Medical Sciences, University of Kragujevac, 34000 Kragujevac, Serbia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ivan","family":"Krgovi\u0107","sequence":"additional","affiliation":[{"name":"Clinical Center of Montenegro, 81000 Podgorica, Montenegro"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7945-2824","authenticated-orcid":false,"given":"Mi\u0161ko","family":"Suboti\u0107","sequence":"additional","affiliation":[{"name":"Cognitive Neuroscience Department, Research and Development Institute \u201cLife Activities Advancement Institute\u201d, 11000 Belgrade, Serbia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2025,10,24]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"303","DOI":"10.1016\/j.ajhg.2014.01.002","article-title":"NR2F1 mutations cause optic atrophy with intellectual disability","volume":"94","author":"Bosch","year":"2014","journal-title":"Am. 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