{"title":"Progressive demyelinating childhood cerebral adrenoleukodystrophy : Assessment of communication impairment","authors":"Mangal Chandra Yadav , Bhavani Venkatachalam , Akshay Parmar , M. Aparna Krishnan , Reheema Thasli , Sachchidanand Sinha","doi":"10.1016/j.rare.2024.100029","DOIUrl":null,"url":null,"abstract":"<div><p>Adrenoleukodystrophy (ALD) is a rare demyelinating genetic disorder occurring due to mutation in the gene ABCD1. The current case study involved detailed evaluation of communication skills including audiological and speech-language evaluations of a 6 year old diagnosed with ALD. The child evidenced severely restricted communication skills along with several other subsystems affected.</p></div>","PeriodicalId":101058,"journal":{"name":"Rare","volume":"2 ","pages":"Article 100029"},"PeriodicalIF":0.0000,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2950008724000127/pdfft?md5=ddf5393a90cebf133927bcc60d857a48&pid=1-s2.0-S2950008724000127-main.pdf","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Rare","FirstCategoryId":"1085","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S2950008724000127","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0
Abstract
Adrenoleukodystrophy (ALD) is a rare demyelinating genetic disorder occurring due to mutation in the gene ABCD1. The current case study involved detailed evaluation of communication skills including audiological and speech-language evaluations of a 6 year old diagnosed with ALD. The child evidenced severely restricted communication skills along with several other subsystems affected.
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