Literature DB >> 28863857

Revised consensus statement on the preventive and symptomatic care of patients with leukodystrophies.

Laura A Adang1, Omar Sherbini2, Laura Ball3, Miriam Bloom4, Anil Darbari5, Hernan Amartino6, Donna DiVito2, Florian Eichler7, Maria Escolar8, Sarah H Evans3, Ali Fatemi9, Jamie Fraser10, Leslie Hollowell11, Nicole Jaffe12, Christopher Joseph9, Mary Karpinski13, Stephanie Keller14, Ryan Maddock15, Edna Mancilla16, Bruce McClary9, Jana Mertz17, Kiley Morgart18, Thomas Langan19, Richard Leventer20, Sumit Parikh21, Amy Pizzino2, Erin Prange2, Deborah L Renaud22, William Rizzo23, Jay Shapiro9, Dean Suhr24, Teryn Suhr24, Davide Tonduti25, Jacque Waggoner26, Amy Waldman1, Nicole I Wolf27, Ayelet Zerem28, Joshua L Bonkowsky29, Genevieve Bernard30, Keith van Haren31, Adeline Vanderver32.   

Abstract

Leukodystrophies are a broad class of genetic disorders that result in disruption or destruction of central myelination. Although the mechanisms underlying these disorders are heterogeneous, there are many common symptoms that affect patients irrespective of the genetic diagnosis. The comfort and quality of life of these children is a primary goal that can complement efforts directed at curative therapies. Contained within this report is a systems-based approach to management of complications that result from leukodystrophies. We discuss the initial evaluation, identification of common medical issues, and management options to establish a comprehensive, standardized care approach. We will also address clinical topics relevant to select leukodystrophies, such as gallbladder pathology and adrenal insufficiency. The recommendations within this review rely on existing studies and consensus opinions and underscore the need for future research on evidence-based outcomes to better treat the manifestations of this unique set of genetic disorders.
Copyright © 2017 Elsevier Inc. All rights reserved.

Entities:  

Keywords:  Care; Consensus; Leukodystrophy; Outcomes; Prevention; Therapy

Mesh:

Year:  2017        PMID: 28863857      PMCID: PMC8018711          DOI: 10.1016/j.ymgme.2017.08.006

Source DB:  PubMed          Journal:  Mol Genet Metab        ISSN: 1096-7192            Impact factor:   4.797


  110 in total

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2.  Evidence-based systematic review: Oropharyngeal dysphagia behavioral treatments. Part III--impact of dysphagia treatments on populations with neurological disorders.

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Authors:  Joshua L Bonkowsky; Jacob Wilkes; Jian Ying; Wei-Qi Wei
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Journal:  Pediatr Neurol       Date:  2021-09-24       Impact factor: 4.210

4.  Complex care of individuals with multiple sulfatase deficiency: Clinical cases and consensus statement.

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Journal:  Mol Genet Metab       Date:  2018-01-31       Impact factor: 4.797

5.  Racial/Ethnic and Insurance Status Disparities in Distance Traveled to Access Children's Hospital Care for Severe Illness: the Case of Children with Leukodystrophies.

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Review 6.  Adulthood leukodystrophies.

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8.  Experience of Parents of Children with Genetically Determined Leukoencephalopathies Regarding the Adapted Health Care Services During the COVID-19 Pandemic.

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9.  Case Report: Severe Osteoporosis and Preventive Therapy in RNA Polymerase III-Related Leukodystrophy.

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Journal:  Front Neurol       Date:  2021-02-26       Impact factor: 4.003

10.  Practical Approaches and Knowledge Gaps in the Care for Children With Leukodystrophies.

Authors:  Stephanie R Keller; Eric J Mallack; Jennifer P Rubin; Jennifer A Accardo; Jennifer A Brault; Camille S Corre; Camila Elizondo; Jennifer Garafola; April C Jackson-Garcia; Jullie Rhee; Elisa Seeger; Kaprice C Shullanberger; Amanda Tourjee; Melissa K Trovato; Amy T Waldman; Jenna L Wallace; Michael R Wallace; Klaus Werner; Angela White; Kevin C Ess; Catherine Becker; Florian S Eichler
Journal:  J Child Neurol       Date:  2020-09-02       Impact factor: 1.987

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