{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,23]],"date-time":"2026-08-23T14:50:43Z","timestamp":1787496643664,"version":"build-2736575974"},"reference-count":36,"publisher":"MDPI AG","issue":"1","license":[{"start":{"date-parts":[[2022,1,17]],"date-time":"2022-01-17T00:00:00Z","timestamp":1642377600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"LIRH Foundation","award":["RC2101MH09"],"award-info":[{"award-number":["RC2101MH09"]}]},{"name":"Italian Ministry of Health","award":["RF-2016-02364123"],"award-info":[{"award-number":["RF-2016-02364123"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JPM"],"abstract":"<jats:p>The \u201cSpazio Huntington\u2014A Place for Children\u201d program was launched in 2019. The aim was to contact at risk kids within Huntington disease (HD) families, to provide counseling to their parents and to start a prospective follow-up of kids suspicious to manifest pediatric HD (PHD). We met 25 at risk kids in two years, four of whom with PHD and highly expanded (HE) mutations beyond 80 CAG repeats. We rated motor, neuropsychological and behavioral changes in all PHD kids by the Unified HD Rating Scale (UHDRS)-total motor score (TMS) and additional measures of (1) cognitive level (Leiter International Performance Scale), (2) adaptive functioning (Adaptive Behavior Assessment Systems), (3) receptive language (Peabody Picture Vocabulary Test) and (4) behavioral abnormalities (Child Behavior Check List and Children\u2019s Yale\u2013Brown Obsessive Compulsive Scale). All PHD kids showed a severe progression of neurological and psychiatric manifestations including motor, cognitive and behavioral changes. The magnetic resonance imaging contributed to confirm the suspicious clinical observation by highlighting very initial striatum abnormalities in PHD. Spazio Huntington is a program to prospectively study PHD, the most atypical face of HD, and may represent the basis to recruit PHD patients in future clinical trials.<\/jats:p>","DOI":"10.3390\/jpm12010120","type":"journal-article","created":{"date-parts":[[2022,1,17]],"date-time":"2022-01-17T08:20:42Z","timestamp":1642407642000},"page":"120","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["\u201cSpazio Huntington\u201d: Tracing the Early Motor, Cognitive and Behavioral Profiles of Kids with Proven Pediatric Huntington Disease and Expanded Mutations &gt; 80 CAG Repeats"],"prefix":"10.3390","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1554-9517","authenticated-orcid":false,"given":"Federica","family":"Graziola","sequence":"first","affiliation":[{"name":"Neurology Unit, Department of Neurosciences, IRCCS Bambino Ges\u00f9 Children Hospital, 00146 Rome, Italy"},{"name":"Italian League for Research on Huntington Foundation, Via Varese 31, 00185 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sabrina","family":"Maffi","sequence":"additional","affiliation":[{"name":"Huntington and Rare Diseases Unit, Fondazione IRCCS Casa Sollievo della Sofferenza Hospital, Viale Cappuccini, 71013 San Giovanni Rotondo, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melissa","family":"Grasso","sequence":"additional","affiliation":[{"name":"Neurology Unit, Department of Neurosciences, IRCCS Bambino Ges\u00f9 Children Hospital, 00146 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3029-8536","authenticated-orcid":false,"given":"Giacomo","family":"Garone","sequence":"additional","affiliation":[{"name":"Neurology Unit, Department of Neurosciences, IRCCS Bambino Ges\u00f9 Children Hospital, 00146 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2665-231X","authenticated-orcid":false,"given":"Simone","family":"Migliore","sequence":"additional","affiliation":[{"name":"Huntington and Rare Diseases Unit, Fondazione IRCCS Casa Sollievo della Sofferenza Hospital, Viale Cappuccini, 71013 San Giovanni Rotondo, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2767-7295","authenticated-orcid":false,"given":"Eugenia","family":"Scaricamazza","sequence":"additional","affiliation":[{"name":"Huntington and Rare Diseases Unit, Fondazione IRCCS Casa Sollievo della Sofferenza Hospital, Viale Cappuccini, 71013 San Giovanni Rotondo, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Consuelo","family":"Ceccarelli","sequence":"additional","affiliation":[{"name":"Italian League for Research on Huntington Foundation, Via Varese 31, 00185 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melissa","family":"Casella","sequence":"additional","affiliation":[{"name":"Italian League for Research on Huntington Foundation, Via Varese 31, 00185 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ludovica","family":"Busi","sequence":"additional","affiliation":[{"name":"Italian League for Research on Huntington Foundation, Via Varese 31, 00185 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Barbara","family":"D\u2019Alessio","sequence":"additional","affiliation":[{"name":"Italian League for Research on Huntington Foundation, Via Varese 31, 00185 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4408-8062","authenticated-orcid":false,"given":"Alessandro","family":"De Luca","sequence":"additional","affiliation":[{"name":"Medical Genetics Division, Fondazione IRCCS Casa Sollievo della Sofferenza Hospital, Viale Cappuccini, 71013 San Giovanni Rotondo, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1142-4904","authenticated-orcid":false,"given":"Giovanna Stefania","family":"Colafati","sequence":"additional","affiliation":[{"name":"Neuroradiology Unit, Imaging Department, IRCCS Bambino Ges\u00f9 Children Hospital, 00146 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5321-8626","authenticated-orcid":false,"given":"Umberto","family":"Sabatini","sequence":"additional","affiliation":[{"name":"Neuroradiology Unit, Department of Medical and Surgical Sciences, Magna Graecia University, Viale Europa, 88100 Catanzaro, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7729-7952","authenticated-orcid":false,"given":"Alessandro","family":"Capuano","sequence":"additional","affiliation":[{"name":"Neurology Unit, Department of 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