“Spazio Huntington”: Tracing the Early Motor, Cognitive and Behavioral Profiles of Kids with Proven Pediatric Huntington Disease and Expanded Mutations > 80 CAG Repeats
The “Spazio Huntington—A Place for Children” 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 kid...
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| Format: | Article |
| Language: | English |
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MDPI AG
2022-01-01
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| Series: | Journal of Personalized Medicine |
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| Online Access: | https://www.mdpi.com/2075-4426/12/1/120 |
| _version_ | 1797492788807335936 |
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| author | Federica Graziola Sabrina Maffi Melissa Grasso Giacomo Garone Simone Migliore Eugenia Scaricamazza Consuelo Ceccarelli Melissa Casella Ludovica Busi Barbara D’Alessio Alessandro De Luca Giovanna Stefania Colafati Umberto Sabatini Alessandro Capuano Ferdinando Squitieri |
| author_facet | Federica Graziola Sabrina Maffi Melissa Grasso Giacomo Garone Simone Migliore Eugenia Scaricamazza Consuelo Ceccarelli Melissa Casella Ludovica Busi Barbara D’Alessio Alessandro De Luca Giovanna Stefania Colafati Umberto Sabatini Alessandro Capuano Ferdinando Squitieri |
| author_sort | Federica Graziola |
| collection | DOAJ |
| description | The “Spazio Huntington—A Place for Children” 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’s Yale–Brown 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. |
| first_indexed | 2024-03-10T01:09:44Z |
| format | Article |
| id | doaj.art-d1694290b8ea4872acd3087160558331 |
| institution | Directory Open Access Journal |
| issn | 2075-4426 |
| language | English |
| last_indexed | 2024-03-10T01:09:44Z |
| publishDate | 2022-01-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Journal of Personalized Medicine |
| spelling | doaj.art-d1694290b8ea4872acd30871605583312023-11-23T14:20:51ZengMDPI AGJournal of Personalized Medicine2075-44262022-01-0112112010.3390/jpm12010120“Spazio Huntington”: Tracing the Early Motor, Cognitive and Behavioral Profiles of Kids with Proven Pediatric Huntington Disease and Expanded Mutations > 80 CAG RepeatsFederica Graziola0Sabrina Maffi1Melissa Grasso2Giacomo Garone3Simone Migliore4Eugenia Scaricamazza5Consuelo Ceccarelli6Melissa Casella7Ludovica Busi8Barbara D’Alessio9Alessandro De Luca10Giovanna Stefania Colafati11Umberto Sabatini12Alessandro Capuano13Ferdinando Squitieri14Neurology Unit, Department of Neurosciences, IRCCS Bambino Gesù Children Hospital, 00146 Rome, ItalyHuntington and Rare Diseases Unit, Fondazione IRCCS Casa Sollievo della Sofferenza Hospital, Viale Cappuccini, 71013 San Giovanni Rotondo, ItalyNeurology Unit, Department of Neurosciences, IRCCS Bambino Gesù Children Hospital, 00146 Rome, ItalyNeurology Unit, Department of Neurosciences, IRCCS Bambino Gesù Children Hospital, 00146 Rome, ItalyHuntington and Rare Diseases Unit, Fondazione IRCCS Casa Sollievo della Sofferenza Hospital, Viale Cappuccini, 71013 San Giovanni Rotondo, ItalyHuntington and Rare Diseases Unit, Fondazione IRCCS Casa Sollievo della Sofferenza Hospital, Viale Cappuccini, 71013 San Giovanni Rotondo, ItalyItalian League for Research on Huntington Foundation, Via Varese 31, 00185 Rome, ItalyItalian League for Research on Huntington Foundation, Via Varese 31, 00185 Rome, ItalyItalian League for Research on Huntington Foundation, Via Varese 31, 00185 Rome, ItalyItalian League for Research on Huntington Foundation, Via Varese 31, 00185 Rome, ItalyMedical Genetics Division, Fondazione IRCCS Casa Sollievo della Sofferenza Hospital, Viale Cappuccini, 71013 San Giovanni Rotondo, ItalyNeuroradiology Unit, Imaging Department, IRCCS Bambino Gesù Children Hospital, 00146 Rome, ItalyNeuroradiology Unit, Department of Medical and Surgical Sciences, Magna Graecia University, Viale Europa, 88100 Catanzaro, ItalyNeurology Unit, Department of Neurosciences, IRCCS Bambino Gesù Children Hospital, 00146 Rome, ItalyHuntington and Rare Diseases Unit, Fondazione IRCCS Casa Sollievo della Sofferenza Hospital, Viale Cappuccini, 71013 San Giovanni Rotondo, ItalyThe “Spazio Huntington—A Place for Children” 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’s Yale–Brown 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.https://www.mdpi.com/2075-4426/12/1/120pediatric Huntington diseaseobservational studiesprospective studieshigh CAG expansionsatypical Huntington disease |
| spellingShingle | Federica Graziola Sabrina Maffi Melissa Grasso Giacomo Garone Simone Migliore Eugenia Scaricamazza Consuelo Ceccarelli Melissa Casella Ludovica Busi Barbara D’Alessio Alessandro De Luca Giovanna Stefania Colafati Umberto Sabatini Alessandro Capuano Ferdinando Squitieri “Spazio Huntington”: Tracing the Early Motor, Cognitive and Behavioral Profiles of Kids with Proven Pediatric Huntington Disease and Expanded Mutations > 80 CAG Repeats Journal of Personalized Medicine pediatric Huntington disease observational studies prospective studies high CAG expansions atypical Huntington disease |
| title | “Spazio Huntington”: Tracing the Early Motor, Cognitive and Behavioral Profiles of Kids with Proven Pediatric Huntington Disease and Expanded Mutations > 80 CAG Repeats |
| title_full | “Spazio Huntington”: Tracing the Early Motor, Cognitive and Behavioral Profiles of Kids with Proven Pediatric Huntington Disease and Expanded Mutations > 80 CAG Repeats |
| title_fullStr | “Spazio Huntington”: Tracing the Early Motor, Cognitive and Behavioral Profiles of Kids with Proven Pediatric Huntington Disease and Expanded Mutations > 80 CAG Repeats |
| title_full_unstemmed | “Spazio Huntington”: Tracing the Early Motor, Cognitive and Behavioral Profiles of Kids with Proven Pediatric Huntington Disease and Expanded Mutations > 80 CAG Repeats |
| title_short | “Spazio Huntington”: Tracing the Early Motor, Cognitive and Behavioral Profiles of Kids with Proven Pediatric Huntington Disease and Expanded Mutations > 80 CAG Repeats |
| title_sort | spazio huntington tracing the early motor cognitive and behavioral profiles of kids with proven pediatric huntington disease and expanded mutations 80 cag repeats |
| topic | pediatric Huntington disease observational studies prospective studies high CAG expansions atypical Huntington disease |
| url | https://www.mdpi.com/2075-4426/12/1/120 |
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