{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T02:21:24Z","timestamp":1760149284652,"version":"build-2065373602"},"reference-count":42,"publisher":"MDPI AG","issue":"7","license":[{"start":{"date-parts":[[2023,7,21]],"date-time":"2023-07-21T00:00:00Z","timestamp":1689897600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Children"],"abstract":"<jats:p>Background: There are many different types of Leukodystrophies. Specifically, children with hypomyelination and congenital cataract syndrome (HCC) in addition to motor retardation development, hypotonia and progressive spastic paraplegia, associated with cerebellar ataxia and peripheral neuropathy, have early bilateral cataracts and intellectual disability as pathognomonic symptoms. HCC rehabilitation treatment is not well defined, but a significant amount of evidence in the literature has demonstrated the effectiveness of occupational therapy (OT) treatment in children with similar symptomatology. For this reason, the aim of this study was to describe the improvement in the autonomies and social participation of a child with HCC following OT treatment. Methods: A.E. was a 9-year-old child with HCC with severe intellectual disability. OT intervention lasted 3 months biweekly and each session lasted 45 min. Each session was divided into two parts: The first part aimed to increase the child\u2019s active involvement through activities; the second part involved training in Activities of Daily living (ADL). The outcome measures were: ABILHAND-Kids; Pediatric Evaluation of Disability Inventory; Comprehensive OT Evaluation Scale; ADL and Instrumental Activities of Daily Living. Results: A.E.\u2019s outcome measure reported an improvement from an autonomy standpoint and in the child\u2019s general activity participation; there was also an increase in A.E.\u2019s interpersonal skills. Conclusion: OT treatment improved A.E.\u2019s autonomy.<\/jats:p>","DOI":"10.3390\/children10071257","type":"journal-article","created":{"date-parts":[[2023,7,24]],"date-time":"2023-07-24T00:57:30Z","timestamp":1690160250000},"page":"1257","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Occupational Therapy Intervention in the Child with Leukodystrophy: Case Report"],"prefix":"10.3390","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0009-0008-0529-354X","authenticated-orcid":false,"given":"Rachele","family":"Simeon","sequence":"first","affiliation":[{"name":"Department of Human Neurosciences, Sapienza University of Rome, 00185 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0670-5303","authenticated-orcid":false,"given":"Anna","family":"Berardi","sequence":"additional","affiliation":[{"name":"Department of Human Neurosciences, Sapienza University of Rome, 00185 Rome, Italy"},{"name":"IRCSS Neuromed, Via Atinense, 18, 86077 Pozzilli, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Donatella","family":"Valente","sequence":"additional","affiliation":[{"name":"Department of Human Neurosciences, Sapienza University of Rome, 00185 Rome, Italy"},{"name":"IRCSS Neuromed, Via Atinense, 18, 86077 Pozzilli, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0002-7545-7534","authenticated-orcid":false,"given":"Tiziana","family":"Volpi","sequence":"additional","affiliation":[{"name":"Nuova SAIR Via del Tecnopolo, 83, 00131 Roma, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Samuele","family":"Vagni","sequence":"additional","affiliation":[{"name":"School of Occupational Therapy, Sapienza University of Rome, 00185 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9043-5686","authenticated-orcid":false,"given":"Giovanni","family":"Galeoto","sequence":"additional","affiliation":[{"name":"Department of Human Neurosciences, Sapienza University of Rome, 00185 Rome, Italy"},{"name":"IRCSS Neuromed, Via Atinense, 18, 86077 Pozzilli, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2023,7,21]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1177\/0883073820946154","article-title":"Practical Approaches and Knowledge Gaps in the Care for Children with Leukodystrophies","volume":"36","author":"Keller","year":"2021","journal-title":"J. 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