进行性脱髓鞘儿童脑腺样体营养不良症：交流障碍评估

Rare Pub Date : 2024-01-01 DOI:10.1016/j.rare.2024.100029

Mangal Chandra Yadav , Bhavani Venkatachalam , Akshay Parmar , M. Aparna Krishnan , Reheema Thasli , Sachchidanand Sinha

{"title":"进行性脱髓鞘儿童脑腺样体营养不良症：交流障碍评估","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":"{\"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}","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

摘要

肾上腺白质营养不良症（ALD）是一种罕见的脱髓鞘遗传性疾病，由基因 ABCD1 突变引起。本病例研究涉及对一名被诊断为 ALD 的 6 岁儿童进行详细的沟通能力评估，包括听力和语言评估。该患儿的交流能力严重受限，其他几个子系统也受到影响。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

查看原文本刊更多论文

Progressive demyelinating childhood cerebral adrenoleukodystrophy : Assessment of communication impairment

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.

求助全文

通过发布文献求助，成功后即可免费获取论文全文。去求助

来源期刊

Rare

自引率

0.00%

发文量