{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T02:52:15Z","timestamp":1760151135752,"version":"build-2065373602"},"reference-count":47,"publisher":"MDPI AG","issue":"2","license":[{"start":{"date-parts":[[2022,2,16]],"date-time":"2022-02-16T00:00:00Z","timestamp":1644969600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Background: Developmental delay and intellectual disability are two pivotal elements of the phenotype of Pallister\u2013Killian Syndrome (PKS). Our study aims to define the cognitive, adaptive, behavioral, and sensory profile of these patients and to evaluate possible correlations between the different aspects investigated and with the main clinical and demographic variables. Methods: Individuals of any age with genetically confirmed PKS were recruited. Those \u2264 42 months were administered the Bayley Scales of Infant and Toddler Development Third Edition (Bayley-III), and those &gt; 42 months the Vineland Adaptive Behavior Scales\u2014Second Edition (Vineland-II). Stereotyped behaviors (Stereotypy Severity Scale, SSS) and aggressive behaviors (Behavior Problems Inventory\u2014Short Version, BPIs) were assessed in all subjects &gt; 1 year; sensory profile (Child Sensory Profile 2, C-SP2) in all aged 2\u201318 years. Results: Twenty-two subjects were enrolled (11 F\/11 M; age 9 months to 28 years). All subjects \u2264 42 months had psychomotor developmental delay. Of the subjects &gt; 42 months, 15 had low IQ deviation, and 1 in the normal range. Stereotypies were frequent (median SSS-total score 25\/68). Lower Vineland-II values corresponded to greater intensity and frequency of stereotypies (p = 0.004 and p = 0.003), and self-injurious behaviors (p = 0.002 and p = 0.002). Patients with severe low vision had greater interference of stereotypies (p = 0.027), and frequency and severity of aggressive behaviors (p = 0.026; p = 0.032). The C-SP2, while not homogeneous across subjects, showed prevalence of low registration and sensory seeking profiles and hypersensitivity to tactile and auditory stimuli. Lower Vineland-II scores correlated with higher Registration scores (p = 0.041), while stereotypies were more frequent and severe in case of high auditory sensitivity (p = 0.019; p = 0.007). Finally, greater sleep impairment correlated with stereotypies and self-injurious behaviors, and lower Vineland-II scores. Conclusions: The present study provides a further step in the investigation of the etiopathogenesis of the syndrome. Furthermore, these aspects could guide rehabilitation therapy through the identification of targeted protocols.<\/jats:p>","DOI":"10.3390\/genes13020356","type":"journal-article","created":{"date-parts":[[2022,2,16]],"date-time":"2022-02-16T20:26:41Z","timestamp":1645043201000},"page":"356","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Cognitive, Behavioral, and Sensory Profile of Pallister\u2013Killian Syndrome: A Prospective Study of 22 Individuals"],"prefix":"10.3390","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0175-6486","authenticated-orcid":false,"given":"Anna","family":"Fetta","sequence":"first","affiliation":[{"name":"IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC di Neuropsichiatria dell\u2019Et\u00e0 Pediatrica, 40139 Bologna, Italy"},{"name":"Dipartimento di Scienze Mediche e Chirurgiche (DIMEC), Universit\u00e0 di Bologna, 40138 Bologna, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1411-9200","authenticated-orcid":false,"given":"Luca","family":"Soliani","sequence":"additional","affiliation":[{"name":"IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC di Neuropsichiatria dell\u2019Et\u00e0 Pediatrica, 40139 Bologna, Italy"},{"name":"Dipartimento di Scienze Mediche e Chirurgiche (DIMEC), Universit\u00e0 di Bologna, 40138 Bologna, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alessia","family":"Trevisan","sequence":"additional","affiliation":[{"name":"Dipartimento di Scienze Mediche e Chirurgiche (DIMEC), Universit\u00e0 di Bologna, 40138 Bologna, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rosa","family":"Pugliano","sequence":"additional","affiliation":[{"name":"IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC di Neuropsichiatria dell\u2019Et\u00e0 Pediatrica, 40139 Bologna, Italy"},{"name":"Dipartimento di Scienze Mediche e Chirurgiche (DIMEC), Universit\u00e0 di Bologna, 40138 Bologna, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3405-6454","authenticated-orcid":false,"given":"Emilia","family":"Ricci","sequence":"additional","affiliation":[{"name":"Child Neuropsychiatry Unit, Epilepsy Center, Ospedale San Paolo, Dipartimento di Scienze della Salute, Universit\u00e0 di Milano, 98051 Milan, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Veronica","family":"Di Pisa","sequence":"additional","affiliation":[{"name":"IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC di Neuropsichiatria dell\u2019Et\u00e0 Pediatrica, 40139 Bologna, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Veronica","family":"Pignataro","sequence":"additional","affiliation":[{"name":"IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC di Neuropsichiatria dell\u2019Et\u00e0 Pediatrica, 40139 Bologna, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marida","family":"Angotti","sequence":"additional","affiliation":[{"name":"IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC di Neuropsichiatria dell\u2019Et\u00e0 Pediatrica, 40139 Bologna, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3406-630X","authenticated-orcid":false,"given":"Alessandro","family":"Rocca","sequence":"additional","affiliation":[{"name":"UO di Pediatria d\u2019Urgenza, IRCCS Policlinico Sant\u2019Orsola, 40138 Bologna, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bianca","family":"Salce","sequence":"additional","affiliation":[{"name":"IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC di Neuropsichiatria dell\u2019Et\u00e0 Pediatrica, 40139 Bologna, Italy"},{"name":"Dipartimento di Scienze Mediche e Chirurgiche (DIMEC), Universit\u00e0 di Bologna, 40138 Bologna, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria Margherita","family":"Mancardi","sequence":"additional","affiliation":[{"name":"Child Neuropsychiatry Unit, Department of Medical and Surgical Neurosciences and Rehabilitation, IRCCS Istituto Giannina Gaslini, 16128 Genova, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6736-4330","authenticated-orcid":false,"given":"Lucio","family":"Giordano","sequence":"additional","affiliation":[{"name":"Child Neuropsychiatric Division, Spedali Civili, 25123 Brescia, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dario","family":"Pruna","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology and Epileptology, Pediatric Depatment, ARNAS Brotzu, 09134 Cagliari, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antonia","family":"Parmeggiani","sequence":"additional","affiliation":[{"name":"IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC di Neuropsichiatria dell\u2019Et\u00e0 Pediatrica, 40139 Bologna, Italy"},{"name":"Dipartimento di Scienze Mediche e Chirurgiche (DIMEC), Universit\u00e0 di Bologna, 40138 Bologna, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1367-6419","authenticated-orcid":false,"given":"Duccio Maria","family":"Cordelli","sequence":"additional","affiliation":[{"name":"IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC di Neuropsichiatria dell\u2019Et\u00e0 Pediatrica, 40139 Bologna, Italy"},{"name":"Dipartimento di Scienze Mediche e Chirurgiche (DIMEC), Universit\u00e0 di Bologna, 40138 Bologna, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2022,2,16]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1007\/BF00222711","article-title":"Molecular cytogenetic study of patients with 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