{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,20]],"date-time":"2026-08-20T11:50:14Z","timestamp":1787226614257,"version":"build-2736575974"},"reference-count":26,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2024,2,6]],"date-time":"2024-02-06T00:00:00Z","timestamp":1707177600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100003196","name":"Ministero della Salute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003196","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2024,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Delineation of a developmental and behavioral trajectory is a key\u2010topic in the context of a genetic syndrome. Short\u2010 and long\u2010term implications concerning school outcome, independent living, and working opportunities are strictly linked to the cognitive and behavioral profile of an individual. For the first time, we present a longitudinal characterization of the adaptive and behavioral profile of a pediatric sample of 32 individuals with Sotos Syndrome (SoS) (18 males, 14 females; mean age 9.7\u2009\u00b1\u20094\u2009years, eight carrying the <jats:italic>NSD1<\/jats:italic> 5q35 microdeletion and 24 with an intragenic mutation). We performed two clinical assessments: at baseline (T0) and at distance evaluation (T1) of adaptive and behavioral skills with a mean distance of 1.56\u2009\u00b1\u20090.95\u2009years among timepoints. Our study reports a stability over the years\u2014meant as lack of statistically significant clinical worsening or improvement\u2014of both adaptive and behavioral skills investigated, regardless the level of Intellectual Quotient and chronological age at baseline. However, participants who did not discontinue intervention among T0 and T1, were characterized by a better clinical profile in terms of adaptive skills and behavioral profile at distance, emphasizing that uninterrupted intervention positively contributes to the developmental trajectory.<\/jats:p>","DOI":"10.1002\/ajmg.a.63553","type":"journal-article","created":{"date-parts":[[2024,2,7]],"date-time":"2024-02-07T09:27:28Z","timestamp":1707298048000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["A longitudinal characterization of the adaptive and behavioral profile in Sotos syndrome"],"prefix":"10.1002","volume":"194","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3357-1788","authenticated-orcid":false,"given":"Martina","family":"Siracusano","sequence":"first","affiliation":[{"name":"Department of Biomedicine and Prevention University of Rome Tor Vergata  Rome Italy"},{"name":"Child Neurology and Psychiatry Unit, Department of Wellbeing of Mental and Neurological, Dental and Sensory Organ Health Policlinico Tor Vergata Hospital  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caterina","family":"Dante","sequence":"additional","affiliation":[{"name":"Child Neurology and Psychiatry Unit, Department of Wellbeing of Mental and Neurological, Dental and Sensory Organ Health Policlinico Tor Vergata Hospital  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rachele","family":"Sarnataro","sequence":"additional","affiliation":[{"name":"Child Neurology and Psychiatry Unit, Department of Wellbeing of Mental and Neurological, Dental and Sensory Organ Health Policlinico Tor Vergata Hospital  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucrezia","family":"Arturi","sequence":"additional","affiliation":[{"name":"Child Neurology and Psychiatry Unit, Department of Wellbeing of Mental and Neurological, Dental and Sensory Organ Health Policlinico Tor Vergata Hospital  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Assia","family":"Riccioni","sequence":"additional","affiliation":[{"name":"Child Neurology and Psychiatry Unit, Department of Wellbeing of Mental and Neurological, Dental and Sensory Organ Health Policlinico Tor Vergata Hospital  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisa","family":"Carloni","sequence":"additional","affiliation":[{"name":"Child Neurology and Psychiatry Unit, Department of Wellbeing of Mental and Neurological, Dental and Sensory Organ Health Policlinico Tor Vergata Hospital  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mariagrazia","family":"Cicala","sequence":"additional","affiliation":[{"name":"Department of Biomedicine and Prevention University of Rome Tor Vergata  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leonardo Emberti","family":"Gialloreti","sequence":"additional","affiliation":[{"name":"Department of Biomedicine and Prevention University of Rome Tor Vergata  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cinzia","family":"Galasso","sequence":"additional","affiliation":[{"name":"Child Neurology and Psychiatry Unit, Department of Wellbeing of Mental and Neurological, Dental and Sensory Organ Health Policlinico Tor Vergata Hospital  Rome Italy"},{"name":"Systems Medicine Department University of Rome Tor Vergata  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giuseppina","family":"Conteduca","sequence":"additional","affiliation":[{"name":"Biotherapy Unit, IRCCS San Martino  Genoa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Domenico","family":"Coviello","sequence":"additional","affiliation":[{"name":"Laboratory of Human Genetics, IRCCS Istituto Giannina Gaslini  Genoa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luigi","family":"Mazzone","sequence":"additional","affiliation":[{"name":"Child Neurology and Psychiatry Unit, Department of Wellbeing of Mental and Neurological, Dental and Sensory Organ Health Policlinico Tor Vergata Hospital  Rome Italy"},{"name":"Systems Medicine Department University of Rome Tor Vergata  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,2,6]]},"reference":[{"key":"e_1_2_12_2_1","volume-title":"Parenting stress index professional manual","author":"Abidin R. 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