{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,12]],"date-time":"2025-10-12T03:10:20Z","timestamp":1760238620220,"version":"build-2065373602"},"reference-count":31,"publisher":"MDPI AG","issue":"16","license":[{"start":{"date-parts":[[2022,8,11]],"date-time":"2022-08-11T00:00:00Z","timestamp":1660176000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCM"],"abstract":"<jats:p>KBG syndrome (KBGS; OMIM #148050) is a rare disease characterized by short stature, facial dysmorphism, macrodontia of the upper central incisors, skeletal anomalies, and neurodevelopmental disorder\/intellectual disability. It is caused by a heterozygous variant or 16q24.3 microdeletions of the ANKRD11 gene (OMIM #611192), which plays a primary role in neuronal development. KBGS traits are variable, and mild expressions of the phenotype may complicate diagnosis. The present work aims at improving the characterization of KBGS in order to facilitate its recognition. A psychopathological evaluation of 17 subjects affected by KBGS found that 10 patients exhibited peculiar behavior related to \u201cpaper handling\u201d. These children and adolescents performed repetitive activities with paper, reminiscent of the hoarding and ordering behaviors characteristic of obsessive compulsive disorder. Their activities were time consuming and carried out in solitary, and forced interruption could generate intense emotional reactions. Paper handling may thus be understood as a potential distinct KBGS symptom akin to an obsessive compulsive symptom. Further research is needed to verify this claim.<\/jats:p>","DOI":"10.3390\/jcm11164687","type":"journal-article","created":{"date-parts":[[2022,8,11]],"date-time":"2022-08-11T05:43:57Z","timestamp":1660196637000},"page":"4687","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Obsessive Compulsive \u201cPaper Handling\u201d: A Potential Distinctive Behavior in Children and Adolescents with KBG Syndrome"],"prefix":"10.3390","volume":"11","author":[{"given":"Francesco","family":"Demaria","sequence":"first","affiliation":[{"name":"Child and Adolescent Neuropsychiatry Unit, Department of Neuroscience, Bambino Ges\u00f9 Children\u2019s Hospital, IRCCS, 00165 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2197-9417","authenticated-orcid":false,"given":"Paolo","family":"Alfieri","sequence":"additional","affiliation":[{"name":"Child and Adolescent Neuropsychiatry Unit, Department of Neuroscience, Bambino Ges\u00f9 Children\u2019s Hospital, IRCCS, 00165 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria Cristina","family":"Digilio","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit, Bambino Ges\u00f9 Children\u2019s Hospital, IRCCS, 00165 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria","family":"Pontillo","sequence":"additional","affiliation":[{"name":"Child and Adolescent Neuropsychiatry Unit, Department of Neuroscience, Bambino Ges\u00f9 Children\u2019s Hospital, IRCCS, 00165 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cristina","family":"Di Vincenzo","sequence":"additional","affiliation":[{"name":"Child and Adolescent Neuropsychiatry Unit, Department of Neuroscience, Bambino Ges\u00f9 Children\u2019s Hospital, IRCCS, 00165 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7293-2315","authenticated-orcid":false,"given":"Federica Alice Maria","family":"Montanaro","sequence":"additional","affiliation":[{"name":"Child and Adolescent Neuropsychiatry Unit, Department of Neuroscience, Bambino Ges\u00f9 Children\u2019s Hospital, IRCCS, 00165 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Valentina","family":"Ciullo","sequence":"additional","affiliation":[{"name":"IRCCS Santa Lucia Foundation, Laboratory of Neuropsychiatry, 00179 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giuseppe","family":"Zampino","sequence":"additional","affiliation":[{"name":"Istituto di Clinica Pediatrica, Universit\u00e0 Cattolica del Sacro Cuore, 00168 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stefano","family":"Vicari","sequence":"additional","affiliation":[{"name":"Child and Adolescent Neuropsychiatry Unit, Department of Neuroscience, Bambino Ges\u00f9 Children\u2019s Hospital, IRCCS, 00165 Rome, Italy"},{"name":"Department of Life Sciences and Public Health, Universit\u00e0 Cattolica del Sacro Cuore, 00168 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2022,8,11]]},"reference":[{"key":"ref_1","first-page":"7","article-title":"The KBG syndrome\u2014A syndrome of short stature, characteristic facies, mental retardation, macrodontia and skeletal anomalies","volume":"11","author":"Herrmann","year":"1975","journal-title":"Birth Defect"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"1693","DOI":"10.1002\/ajmg.a.62688","article-title":"KBG syndrome in a Chinese population: A case series","volume":"188","author":"Ho","year":"2022","journal-title":"Am. 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