{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,2]],"date-time":"2025-07-02T17:32:36Z","timestamp":1751477556061,"version":"3.41.0"},"reference-count":15,"publisher":"FapUNIFESP (SciELO)","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["CoDAS"],"published-print":{"date-parts":[[2016,12]]},"abstract":"<jats:p>RESUMO A s\u00edndrome de Joubert (SJ) \u00e9 uma condi\u00e7\u00e3o gen\u00e9tica heterog\u00eanea, rara, do grupo das ciliopatias. Mais de 20 genes foram identificados relacionados com este fen\u00f3tipo. As principais manifesta\u00e7\u00f5es incluem hipotonia, ataxia, atraso psicomotor, apraxia oculomotora e anormalidades respirat\u00f3rias neonatais. O objetivo deste artigo foi apresentar achados de linguagem e neurodesenvolvimento de um indiv\u00edduo com diagn\u00f3stico da SJ. Foi realizada a anamnese, avalia\u00e7\u00e3o gen\u00e9tica cl\u00ednica, observa\u00e7\u00e3o do comportamento comunicativo, avalia\u00e7\u00e3o da linguagem, o Teste de Screening de Desenvolvimento Denver-II (TSDD-II) e a Early Language Milestone Scale (ELMS). Os principais achados da Resson\u00e2ncia Magn\u00e9tica do enc\u00e9falo mostraram grave hipoplasia do v\u00e9rmis cerebelar, \u201csinal do dente molar\u201d, tronco cerebral hipopl\u00e1sico, atrofia dos hemisf\u00e9rios cerebelares. A avalia\u00e7\u00e3o da linguagem mostrou aus\u00eancia de oralidade, preju\u00edzo na recep\u00e7\u00e3o da linguagem, confirmando o diagn\u00f3stico de transtorno de linguagem, com grau de comprometimento grave. O TSDD-II e a ELMS comprovaram a observa\u00e7\u00e3o e avalia\u00e7\u00e3o cl\u00ednica e indicaram atraso grave nos dom\u00ednios motor, autocuidados e de linguagem receptiva e expressiva. Diante da presen\u00e7a de hipotonia, ataxia, atraso psicomotor e anormalidades respirat\u00f3rias neonatais \u00e9 imprescind\u00edvel a realiza\u00e7\u00e3o de exame por imagem e avalia\u00e7\u00e3o gen\u00e9tica para o diagn\u00f3stico desta condi\u00e7\u00e3o, t\u00e3o complexa, com necessidades terap\u00eauticas peculiares. Este conjunto de achados, associado \u00e0 hist\u00f3ria familial e caracter\u00edsticas fenot\u00edpicas peculiares refor\u00e7am o diagn\u00f3stico gen\u00e9tico cl\u00ednico da SJ. Esta s\u00edndrome gen\u00e9tica \u00e9 pouco reconhecida e merece ser apresentada para o reconhecimento da comunidade cient\u00edfica, visando o diagn\u00f3stico correto e planejamento terap\u00eautico que minimize os efeitos delet\u00e9rios desta condi\u00e7\u00e3o.<\/jats:p>","DOI":"10.1590\/2317-1782\/20162015184","type":"journal-article","created":{"date-parts":[[2016,12,21]],"date-time":"2016-12-21T23:13:24Z","timestamp":1482362004000},"page":"823-827","source":"Crossref","is-referenced-by-count":1,"title":["Linguagem, comportamento e neurodesenvolvimento na S\u00edndrome de Joubert: relato de caso"],"prefix":"10.1590","volume":"28","author":[{"given":"Dion\u00edsia Aparecida Cusin","family":"Lam\u00f4nica","sequence":"first","affiliation":[{"name":"Universidade de S\u00e3o Paulo, Brasil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Camila da Costa","family":"Ribeiro","sequence":"additional","affiliation":[{"name":"Universidade de S\u00e3o Paulo, Brasil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antonio","family":"Richieri-Costa","sequence":"additional","affiliation":[{"name":"Universidade de S\u00e3o Paulo, Brasil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C\u00e9lia Maria","family":"Giacheti","sequence":"additional","affiliation":[{"name":"Universidade Estadual Paulista, Brasil"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"530","reference":[{"issue":"79","key":"ref1","doi-asserted-by":"crossref","first-page":"381","DOI":"10.12659\/PJR.890941","article-title":"Joubert Syndrome: imaging features and illustration of a case","volume":"27","author":"Arora R","year":"2014","journal-title":"Pol J Radiol"},{"year":"2015","key":"ref2"},{"issue":"9","key":"ref3","doi-asserted-by":"crossref","first-page":"812","DOI":"10.33588\/rn.3209.2000589","article-title":"Joubert\u2019s syndrome: report of 12 cases","volume":"32","author":"Barreirinho 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communication findings in Joubert\u2019s syndrome: further evidence of multisystem apraxia","volume":"21","author":"Braddock BA","year":"2006","journal-title":"J Child Neurol"},{"issue":"1","key":"ref11","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1186\/1750-1172-5-20","article-title":"Joubert Syndrome and related disorders","volume":"5","author":"Brancati F","year":"2010","journal-title":"Orphanet J Rare Dis"},{"key":"ref12","first-page":"2014","article-title":"Joubert syndrome","volume":"20","author":"Karegowda LH","year":"2014","journal-title":"BMJ Case Rep"},{"year":"1992","series-title":"Denver II training manual","author":"Frankenburg WK","key":"ref13"},{"year":"1983","series-title":"The early language milestone scale","author":"Coplan J","key":"ref14"},{"issue":"1","key":"ref15","first-page":"9","article-title":"Protocolo de avalia\u00e7\u00e3o diagn\u00f3stica multidisciplinar da equipe de transtornos globais do desenvolvimento","volume":"11","author":"Velloso 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