{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T09:55:40Z","timestamp":1790416540000,"version":"4.1.0"},"reference-count":19,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2017,5,18]],"date-time":"2017-05-18T00:00:00Z","timestamp":1495065600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"French Ministry of Health (Programme Hospitalier de Recherche Clinique national)","award":["AOM 07-090"],"award-info":[{"award-number":["AOM 07-090"]}]},{"name":"Fondation Maladies Rares and the French Kabuki Association"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2017,9]]},"abstract":"<jats:p>Kabuki syndrome (<jats:styled-content style=\"fixed-case\">KS\u2014OMIM<\/jats:styled-content> 147920) is a rare developmental disease characterized by the association of multiple congenital anomalies and intellectual disability. This study aimed to investigate intellectual performance in children with <jats:styled-content style=\"fixed-case\">KS<\/jats:styled-content> and link the performance to several clinical features and molecular data. We recruited 31 children with <jats:italic><jats:styled-content style=\"fixed-case\">KMT2D<\/jats:styled-content><\/jats:italic> mutations who were 6 to 16 years old. They all completed the Weschler Intelligence Scale for Children, fourth edition. We calculated all indexes: the Full Scale Intellectual Quotient (<jats:styled-content style=\"fixed-case\">FSIQ<\/jats:styled-content>), Verbal Comprehension Index (<jats:styled-content style=\"fixed-case\">VCI<\/jats:styled-content>), Perceptive Reasoning Index (<jats:styled-content style=\"fixed-case\">PRI<\/jats:styled-content>), Processing Speed Index (<jats:styled-content style=\"fixed-case\">PSI<\/jats:styled-content>), and Working Memory Index (<jats:styled-content style=\"fixed-case\">WMI<\/jats:styled-content>). In addition, molecular data and several clinical symptoms were studied. <jats:styled-content style=\"fixed-case\">FSIQ<\/jats:styled-content> and <jats:styled-content style=\"fixed-case\">VCI<\/jats:styled-content> scores were 10 points lower for patients with a truncating mutation than other types of mutations. In addition, scores for <jats:styled-content style=\"fixed-case\">FSIQ<\/jats:styled-content>, <jats:styled-content style=\"fixed-case\">VCI<\/jats:styled-content> and <jats:styled-content style=\"fixed-case\">PRI<\/jats:styled-content> were lower for children with visual impairment than normal vision. We also identified a discrepancy in indexes characterized by high <jats:styled-content style=\"fixed-case\">WMI<\/jats:styled-content> and <jats:styled-content style=\"fixed-case\">VCI<\/jats:styled-content> and low <jats:styled-content style=\"fixed-case\">PRI<\/jats:styled-content> and <jats:styled-content style=\"fixed-case\">PSI<\/jats:styled-content>. We emphasize the importance of early identification and intensive care of visual disorders in patients with <jats:styled-content style=\"fixed-case\">KS<\/jats:styled-content> and recommend individual assessment of intellectual profile.<\/jats:p>","DOI":"10.1111\/cge.13010","type":"journal-article","created":{"date-parts":[[2017,5,18]],"date-time":"2017-05-18T10:44:44Z","timestamp":1495104284000},"page":"298-305","source":"Crossref","is-referenced-by-count":42,"title":["Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and <i><scp>KMT2D<\/scp><\/i> mutations"],"prefix":"10.1111","volume":"92","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3773-672X","authenticated-orcid":false,"given":"N.","family":"Lehman","sequence":"first","affiliation":[{"name":"D\u00e9partement de g\u00e9n\u00e9tique m\u00e9dicale, maladies rares et m\u00e9decine personnalis\u00e9e, centre de r\u00e9f\u00e9rence anomalies du d\u00e9veloppement et syndromes malformatifs, Unit\u00e9 Inserm U1183, H\u00f4pital Arnaud de Villeneuve Universit\u00e9 Montpellier, CHU Montpellier  Montpellier France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.C.","family":"Mazery","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique H\u00f4pital Necker\u2010Enfants Malades, AP\u2010HP et INSERM UMR 1163, Paris Descartes\u2010Sorbonne Paris Cit\u00e9 University, Institut <i>Imagine<\/i>  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Visier","sequence":"additional","affiliation":[{"name":"D\u00e9partement de l'information m\u00e9dicale CHRU Montpellier  Montpellier France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Baumann","sequence":"additional","affiliation":[{"name":"Service de g\u00e9n\u00e9tique m\u00e9dicale H\u00f4pital Robert Debr\u00e9  Paris 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