{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,8]],"date-time":"2026-09-08T15:29:12Z","timestamp":1788881352026,"version":"build-2803163510"},"reference-count":33,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2020,10,9]],"date-time":"2020-10-09T00:00:00Z","timestamp":1602201600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000065","name":"National Institute of Neurological Disorders and Stroke","doi-asserted-by":"publisher","award":["K08NS092898"],"award-info":[{"award-number":["K08NS092898"]}],"id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J intellect Disabil Res"],"published-print":{"date-parts":[[2020,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Ultrarare Marshall\u2013Smith and Malan syndromes, caused by changes of the gene nuclear factor I X (<jats:italic>NFIX<\/jats:italic>), are characterised by intellectual disability (ID) and behavioural problems, although questions remain. Here, development and behaviour are studied and compared in a cross\u2010sectional study, and results are presented with genetic findings.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Behavioural phenotypes are compared of eight individuals with Marshall\u2010Smith syndrome (three male individuals) and seven with Malan syndrome (four male individuals). Long\u2010term follow\u2010up assessment of cognition and adaptive behaviour was possible in three individuals with Marshall\u2013Smith syndrome.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Marshall\u2013Smith syndrome individuals have more severe ID, less adaptive behaviour, more impaired speech and less reciprocal interaction compared with individuals with Malan syndrome. Sensory processing difficulties occur in both syndromes. Follow\u2010up measurement of cognition and adaptive behaviour in Marshall\u2013Smith syndrome shows different individual learning curves over time.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Results show significant between and within syndrome variability. Different <jats:italic>NFIX<\/jats:italic> variants underlie distinct clinical phenotypes leading to separate entities. Cognitive, adaptive and sensory impairments are common in both syndromes and increase the risk of challenging behaviour. This study highlights the value of considering behaviour within developmental and environmental context. To improve quality of life, adaptations to environment and treatment are suggested to create a better person\u2010environment fit.<\/jats:p><\/jats:sec>","DOI":"10.1111\/jir.12787","type":"journal-article","created":{"date-parts":[[2020,10,9]],"date-time":"2020-10-09T08:46:35Z","timestamp":1602233195000},"page":"956-969","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":27,"title":["Development, behaviour and sensory processing in Marshall\u2013Smith syndrome and Malan syndrome: phenotype comparison in two related syndromes"],"prefix":"10.1111","volume":"64","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9489-4022","authenticated-orcid":false,"given":"P. 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