Occupational Therapy Intervention in the Child with Leukodystrophy: Case Report

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,...

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Main Authors: Rachele Simeon, Anna Berardi, Donatella Valente, Tiziana Volpi, Samuele Vagni, Giovanni Galeoto
Format: Article
Language:English
Published: MDPI AG 2023-07-01
Series:Children
Subjects:
Online Access:https://www.mdpi.com/2227-9067/10/7/1257
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author Rachele Simeon
Anna Berardi
Donatella Valente
Tiziana Volpi
Samuele Vagni
Giovanni Galeoto
author_facet Rachele Simeon
Anna Berardi
Donatella Valente
Tiziana Volpi
Samuele Vagni
Giovanni Galeoto
author_sort Rachele Simeon
collection DOAJ
description 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’s 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.’s outcome measure reported an improvement from an autonomy standpoint and in the child’s general activity participation; there was also an increase in A.E.’s interpersonal skills. Conclusion: OT treatment improved A.E.’s autonomy.
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spelling doaj.art-9ebc705c794f4d2697912bf4b3c980662023-11-18T18:50:28ZengMDPI AGChildren2227-90672023-07-01107125710.3390/children10071257Occupational Therapy Intervention in the Child with Leukodystrophy: Case ReportRachele Simeon0Anna Berardi1Donatella Valente2Tiziana Volpi3Samuele Vagni4Giovanni Galeoto5Department of Human Neurosciences, Sapienza University of Rome, 00185 Rome, ItalyDepartment of Human Neurosciences, Sapienza University of Rome, 00185 Rome, ItalyDepartment of Human Neurosciences, Sapienza University of Rome, 00185 Rome, ItalyNuova SAIR Via del Tecnopolo, 83, 00131 Roma, ItalySchool of Occupational Therapy, Sapienza University of Rome, 00185 Rome, ItalyDepartment of Human Neurosciences, Sapienza University of Rome, 00185 Rome, ItalyBackground: 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’s 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.’s outcome measure reported an improvement from an autonomy standpoint and in the child’s general activity participation; there was also an increase in A.E.’s interpersonal skills. Conclusion: OT treatment improved A.E.’s autonomy.https://www.mdpi.com/2227-9067/10/7/1257occupational therapyleukodystrophiesautonomyactivities of daily living
spellingShingle Rachele Simeon
Anna Berardi
Donatella Valente
Tiziana Volpi
Samuele Vagni
Giovanni Galeoto
Occupational Therapy Intervention in the Child with Leukodystrophy: Case Report
Children
occupational therapy
leukodystrophies
autonomy
activities of daily living
title Occupational Therapy Intervention in the Child with Leukodystrophy: Case Report
title_full Occupational Therapy Intervention in the Child with Leukodystrophy: Case Report
title_fullStr Occupational Therapy Intervention in the Child with Leukodystrophy: Case Report
title_full_unstemmed Occupational Therapy Intervention in the Child with Leukodystrophy: Case Report
title_short Occupational Therapy Intervention in the Child with Leukodystrophy: Case Report
title_sort occupational therapy intervention in the child with leukodystrophy case report
topic occupational therapy
leukodystrophies
autonomy
activities of daily living
url https://www.mdpi.com/2227-9067/10/7/1257
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