{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,9]],"date-time":"2026-06-09T05:57:19Z","timestamp":1780984639444,"version":"3.54.1"},"reference-count":16,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2016,5,26]],"date-time":"2016-05-26T00:00:00Z","timestamp":1464220800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100002809","name":"Generalitat de Catalunya","doi-asserted-by":"publisher","award":["AGAUR 2014\u2010SGR603"],"award-info":[{"award-number":["AGAUR 2014\u2010SGR603"]}],"id":[{"id":"10.13039\/501100002809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2017,1]]},"abstract":"Behavioral symptoms and traits have been proposed as early markers in neurodegenerative diseases. The aim of this study was to evaluate social anxiety and autism in FMR1<\/jats:styled-content><\/jats:italic> premutation carriers using the Social Phobia Inventory (SPIN<\/jats:styled-content>) and the Autism\u2010Spectrum Quotient (AQ<\/jats:styled-content>) questionnaires. Fifty\u2010nine premutation carriers were compared with 50 controls. The SPIN<\/jats:styled-content> test showed statistically significant differences between female but not male carriers. The AQ<\/jats:styled-content> questionnaire found statistically significant differences between premutation carriers and controls in the total AQ<\/jats:styled-content> as well as in the social skills and attention switching subdomains. A gender effect was only observed for the social skills subdomain. Spearman's correlation analysis revealed a moderately positive correlation with the total AQ<\/jats:styled-content> scores as well as the social skills and communication subdomains. Our results show that fragile X\u2010associated tremor\/ataxia syndrome (FXTAS<\/jats:styled-content>) patients have higher AQ<\/jats:styled-content> scores. Moreover, this is the first study to find statistically significant differences between FXTAS<\/jats:styled-content> and no\u2010FXTAS<\/jats:styled-content> premutation carriers in the communication and the imagination subdomains, suggesting that FXTAS<\/jats:styled-content> patients present a broader autistic phenotype than premutation carriers without FXTAS<\/jats:styled-content>. Based on our results, a wide range of behavioral\/psychiatric traits should be included within the broader phenotypic presentation of individuals with the FMR1<\/jats:styled-content><\/jats:italic> premutation.<\/jats:p>","DOI":"10.1111\/cge.12791","type":"journal-article","created":{"date-parts":[[2016,4,22]],"date-time":"2016-04-22T20:46:58Z","timestamp":1461358018000},"page":"111-114","source":"Crossref","is-referenced-by-count":6,"title":["Social anxiety and autism spectrum traits among adult FMR1<\/scp><\/i> premutation carriers"],"prefix":"10.1111","volume":"91","author":[{"given":"O.","family":"L\u00f3pez\u2010Mourelo","sequence":"first","affiliation":[{"name":"PIC, Parc de Recerca UAB Bellaterra Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.","family":"Mur","sequence":"additional","affiliation":[{"name":"CSM Mart\u00ed i Juli\u00e0 Instituto de Neuropsiquiatr\u00eda y Adicciones (INAD), Parc de Salut Mar Barcelona 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