{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,20]],"date-time":"2026-10-20T09:43:08Z","timestamp":1792489388012,"version":"4.5.0"},"reference-count":0,"publisher":"L\u00e4kartidningen F\u00f6rlag AB","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,10,21]]},"abstract":"<jats:p>Gruppen barn med utvecklingsavvikelser beh\u00f6ver en medicinsk bed\u00f6mning avseende bakomliggande etiologi.\n\nUtvecklingen inom klinisk genetisk diagnostik har gjort det m\u00f6jligt att i \u00f6kad omfattning identifiera bakomliggande medicinska orsaker vid utvecklingsrelaterade funktionsneds\u00e4ttningar.\n\nVid medelsv\u00e5r och sv\u00e5r intellektuell funktionsneds\u00e4ttning p\u00e5visas en etiologisk diagnos i betydligt h\u00f6gre utstr\u00e4ckning \u00e4n vid lindrig intellektuell funktionsneds\u00e4ttning.\n\nVid autism anges ocks\u00e5 en h\u00f6gre sannolikhet att finna en etiologisk diagnos om samtidig intellektuell funktionsneds\u00e4ttning f\u00f6religger.\n\n17q12-mikrodeletionssyndrom kan vara underdiagnostiserat vid s\u00e5v\u00e4l autism som schizofreni, men ocks\u00e5 vid lindrig intellektuell funktionsneds\u00e4ttning.\n\nV\u00e5r fallbeskrivning illustrerar betydelsen av att beakta m\u00f6jligheten av 17q12-mikrodeletionssyndrom vid kombinationen autism, selektiv mutism och beg\u00e5vningsneds\u00e4ttning.<\/jats:p>","DOI":"10.65868\/vbwe4409","type":"journal-article","created":{"date-parts":[[2026,10,20]],"date-time":"2026-10-20T09:23:55Z","timestamp":1792488235000},"source":"Crossref","is-referenced-by-count":0,"title":["M\u00f6jlig underdiagnostisering av 17q12-mikrodeletionssyndrom"],"prefix":"10.65868","author":[{"given":"Elisabeth","family":"Fernell","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Linda","family":"Bulmer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"\u00adChristopher","family":"Gillberg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"55417","published-online":{"date-parts":[[2026,10,20]]},"container-title":["L\u00e4kartidningen"],"original-title":[],"deposited":{"date-parts":[[2026,10,20]],"date-time":"2026-10-20T09:24:35Z","timestamp":1792488275000},"score":1,"resource":{"primary":{"URL":"https:\/\/lakartidningen.se\/vetenskap\/mojlig-underdiagnostisering-av-17q12-mikrodeletionssyndrom\/"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,10,20]]},"references-count":0,"URL":"https:\/\/doi.org\/10.65868\/vbwe4409","relation":{},"ISSN":["0023-7205","1652-7518"],"issn-type":[{"value":"0023-7205","type":"print"},{"value":"1652-7518","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,10,20]]},"article-number":"2026;123:26010"}}