{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,29]],"date-time":"2026-08-29T07:13:44Z","timestamp":1787987624011,"version":"build-2784847793"},"reference-count":25,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2012,8,27]],"date-time":"2012-08-27T00:00:00Z","timestamp":1346025600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Develop Med Child Neuro"],"published-print":{"date-parts":[[2012,11]]},"abstract":"<jats:p><jats:bold>Aim\u2002<\/jats:bold> We set out to describe 17 patients with septo\u2010optic dysplasia (SOD), focusing on the little\u2010explored neurological, cognitive, and neuro\u2010ophthalmological components. A further aim was to identify possible clinical correlations and phenotypic characteristics within the diagnostic spectrum.<\/jats:p><jats:p><jats:bold>Method\u2002<\/jats:bold> We collected clinical\u2010instrumental data (from the history, general and neurological examination, developmental assessment, and neuro\u2010ophthalmological, neuroradiological, neurophysiological, and endocrinological evaluations) on nine males and eight females (mean age 34.4mo, SD 31.6; range 4mo\u20109y 6mo) diagnosed with SOD who were referred to our Centre of Child Neuro\u2010ophthalmology between 1999 and 2010.<\/jats:p><jats:p><jats:bold>Results\u2002<\/jats:bold> We observed a heterogeneous clinical spectrum characterized by nervous system, visual, and endocrine dysfunctions; optic nerve involvement was present in all 17 children, midline brain defects in 14, and cortical developmental malformations in seven. Developmental\/cognitive delay and relational and communication difficulties were observed in eight and seven children, respectively, and reduced visual acuity and oculomotor dysfunction were observed in all. Pituitary hormone deficiencies were present in nine children.<\/jats:p><jats:p><jats:bold>Interpretation\u2002<\/jats:bold> Nervous system involvement emerged as a key feature of SOD. As part of a holistic approach to the disease, particular attention should be paid to this aspect. The emergence of new clinical correlations and correlations between clinical features and three SOD subtypes opens the way for better clarification of this disease and, therefore, more targeted diagnosis, follow\u2010up, and care of affected children.<\/jats:p>","DOI":"10.1111\/j.1469-8749.2012.04404.x","type":"journal-article","created":{"date-parts":[[2012,8,27]],"date-time":"2012-08-27T19:45:00Z","timestamp":1346096700000},"page":"1018-1024","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":46,"title":["Septo\u2010optic dysplasia in childhood: the neurological, cognitive and neuro\u2010ophthalmological perspective"],"prefix":"10.1111","volume":"54","author":[{"given":"SABRINA G","family":"SIGNORINI","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"ALICE","family":"DECIO","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"CRISTINA","family":"FEDELI","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"ANTONELLA","family":"LUPARIA","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"MAURO","family":"ANTONINI","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"CHIARA","family":"BERTONE","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"WALTER","family":"MISEFARI","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"GIULIO","family":"RUBERTO","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"PAOLO E","family":"BIANCHI","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"UMBERTO","family":"BALOTTIN","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2012,8,27]]},"reference":[{"key":"e_1_2_8_2_2","first-page":"267","article-title":"Studies on malformation of cranio\u2010encephalic sutures. 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