{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,18]],"date-time":"2026-09-18T20:45:21Z","timestamp":1789764321826,"version":"4.0.1"},"reference-count":30,"publisher":"Oxford University Press (OUP)","issue":"12","license":[{"start":{"date-parts":[[2025,8,25]],"date-time":"2025-08-25T00:00:00Z","timestamp":1756080000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Italian Association for Alexander Disease: Associazione Italiana Sindrome di Alexander \u2018Pi\u00f9 Unici che Rari ODV\u2019"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,12,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>Leukodystrophies are a group of genetically determined neurological disorders affecting the white matter of the central nervous system and they have a profound impact on the daily lives of patients and their caregivers. However, only a few studies have analyzed the psychological experiences of parents of children with these conditions. The main aims of the present study were to assess parental burden and parenting stress in caregivers and to evaluate the relationships between parents\u2019 experiences and the perceived clinical characteristics of their children.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Forty-one parents of children and young adults diagnosed with leukodystrophies completed an online survey specifically designed to assess: the characteristics of parents and their children (i.e., current abilities, perceived severity level, and possible regression) and the psychological experiences of parents (i.e., caregiver burden, parenting stress, and perceived social support).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>A significant proportion of parents who participated in the study were at risk of experiencing caregiver burden (63%) or parenting stress (49%). Regression analysis showed that perceived social support and the degree of regression (i.e., loss of competence) manifested by the children and young adults emerged as significant factors in determining caregiver burden. However, neither the severity of the child\u2019s condition nor the age of the child\/young adult appeared to be a determining factor in predicting parental burden or parenting stress.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>This study highlights the importance of considering parental well-being in both research and clinical practice, particularly for parents of children with progressive conditions.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1093\/jpepsy\/jsaf072","type":"journal-article","created":{"date-parts":[[2025,8,5]],"date-time":"2025-08-05T11:33:47Z","timestamp":1754393627000},"page":"1091-1098","source":"Crossref","is-referenced-by-count":2,"title":["The impact of leukodystrophies on parents\u2019 lives"],"prefix":"10.1093","volume":"50","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2207-0179","authenticated-orcid":false,"given":"Laura","family":"Zampini","sequence":"first","affiliation":[{"name":"Department of Psychology, University of Milano-Bicocca , Milan,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Cordolcini","sequence":"additional","affiliation":[{"name":"Department of Psychology, University of Milano-Bicocca , Milan,","place":["Italy"]},{"name":"Department of Statistics, Computer Science, Applications (DiSIA), University of Florence , Florence,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lara","family":"Draghi","sequence":"additional","affiliation":[{"name":"Department of Psychology, University of Milano-Bicocca , Milan,","place":["Italy"]},{"name":"Unit of Pediatric Neurology, C.O.A.L.A. (Center for Diagnosis and Treatment of Leukodystrophies), V. Buzzi Children\u2019s Hospital , Milan,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paola","family":"Zanchi","sequence":"additional","affiliation":[{"name":"Department of Psychology, Catholic University of the Sacred Hearth , Milan,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ylenia","family":"Vaia","sequence":"additional","affiliation":[{"name":"Unit of Pediatric Neurology, C.O.A.L.A. (Center for Diagnosis and Treatment of Leukodystrophies), V. Buzzi Children\u2019s Hospital , Milan,","place":["Italy"]},{"name":"Department of Biomedical and Clinical Sciences, University of Milan , Milan,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eleonora","family":"Bonaventura","sequence":"additional","affiliation":[{"name":"Unit of Pediatric Neurology, C.O.A.L.A. (Center for Diagnosis and Treatment of Leukodystrophies), V. Buzzi Children\u2019s Hospital , Milan,","place":["Italy"]},{"name":"Department of Biomedical and Clinical Sciences, University of Milan , Milan,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Davide","family":"Tonduti","sequence":"additional","affiliation":[{"name":"Unit of Pediatric Neurology, C.O.A.L.A. (Center for Diagnosis and Treatment of Leukodystrophies), V. Buzzi Children\u2019s Hospital , Milan,","place":["Italy"]},{"name":"Department of Biomedical and Clinical Sciences, University of Milan , Milan,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2025,8,25]]},"reference":[{"key":"2025123110071208400_jsaf072-B1","volume-title":"The parenting stress index-short form","author":"Abidin","year":"1995"},{"key":"2025123110071208400_jsaf072-B2","doi-asserted-by":"publisher","first-page":"211","DOI":"10.1186\/s13023-021-01828-y","article-title":"The impact of severe rare chronic neurological disease in childhood on the quality of life of families\u2014A study on MLD and PCH2","volume":"16","author":"Ammann-Schnell","year":"2021","journal-title":"Orphanet Journal of Rare Diseases"},{"key":"2025123110071208400_jsaf072-B3","doi-asserted-by":"publisher","first-page":"1018","DOI":"10.3390\/healthcare12101018","article-title":"Caregiver burden, parenting stress and coping strategies: The experience of parents of children and adolescents with osteogenesis imperfecta","volume":"12","author":"Aratti","year":"2024","journal-title":"Healthcare (Basel, Switzerland)"},{"key":"2025123110071208400_jsaf072-B4","doi-asserted-by":"publisher","first-page":"369","DOI":"10.1016\/j.braindev.2017.01.001","article-title":"Childhood leukodystrophies: A literature review of updates on new definitions, classification, diagnostic approach and management","volume":"39","author":"Ashrafi","year":"2017","journal-title":"Brain & Development"},{"key":"2025123110071208400_jsaf072-B5","doi-asserted-by":"publisher","first-page":"e2021053126","DOI":"10.1542\/peds.2021-053126","article-title":"Leukodystrophies in children: Diagnosis, care, and treatment","volume":"148","author":"Bonkowsky","year":"2021","journal-title":"Pediatrics"},{"key":"2025123110071208400_jsaf072-B6","doi-asserted-by":"publisher","first-page":"15","DOI":"10.1186\/s41687-018-0041-x","article-title":"Development of the impact of juvenile metachromatic leukodystrophy on physical activities scale","volume":"2","author":"Brown","year":"2017","journal-title":"Journal of Patient-Reported Outcomes"},{"key":"2025123110071208400_jsaf072-B7","doi-asserted-by":"publisher","first-page":"1000","DOI":"10.1400\/113455","article-title":"Misurare il supporto sociale percepito: propriet\u00e0 psicometriche della Multidimensional Scale of Perceived Social Support (MSPSS) in un campione di studenti universitari","volume":"3","author":"Busoni","year":"2008","journal-title":"Risorsa Uomo. 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