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...
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| Format: | Article |
| Language: | English |
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Elsevier
2024-01-01
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| Series: | Rare |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S2950008724000127 |
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| author | Mangal Chandra Yadav Bhavani Venkatachalam Akshay Parmar M. Aparna Krishnan Reheema Thasli Sachchidanand Sinha |
| author_facet | Mangal Chandra Yadav Bhavani Venkatachalam Akshay Parmar M. Aparna Krishnan Reheema Thasli Sachchidanand Sinha |
| author_sort | Mangal Chandra Yadav |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-7cdbf5d40fcc4852a5cb0c3dde389c28 |
| institution | DOAJ |
| issn | 2950-0087 |
| language | English |
| publishDate | 2024-01-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Rare |
| spelling | doaj-art-7cdbf5d40fcc4852a5cb0c3dde389c282025-08-20T02:49:02ZengElsevierRare2950-00872024-01-01210002910.1016/j.rare.2024.100029Progressive demyelinating childhood cerebral adrenoleukodystrophy : Assessment of communication impairmentMangal Chandra Yadav0Bhavani Venkatachalam1Akshay Parmar2M. Aparna Krishnan3Reheema Thasli4Sachchidanand Sinha5Department of ENT, All India Institute of Medical Sciences, Rishikesh, India; Corresponding author.Department of Speech Language Pathology, All India Institute of Speech and Hearing, Mysuru, IndiaDepartment of Audiology, All India Institute of Speech and Hearing, Mysuru, IndiaUniversity of Queensland Australia, AustraliaDepartment of Audiology, All India Institute of Speech and Hearing, Mysuru, IndiaPandit Jawaharlal Nehru Memorial Medical College, Raipur, IndiaAdrenoleukodystrophy (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.http://www.sciencedirect.com/science/article/pii/S2950008724000127AdrenoleukodystrophyCommunicationHearing impairmentSpeech and languageALD |
| spellingShingle | Mangal Chandra Yadav Bhavani Venkatachalam Akshay Parmar M. Aparna Krishnan Reheema Thasli Sachchidanand Sinha Progressive demyelinating childhood cerebral adrenoleukodystrophy : Assessment of communication impairment Rare Adrenoleukodystrophy Communication Hearing impairment Speech and language ALD |
| title | Progressive demyelinating childhood cerebral adrenoleukodystrophy : Assessment of communication impairment |
| title_full | Progressive demyelinating childhood cerebral adrenoleukodystrophy : Assessment of communication impairment |
| title_fullStr | Progressive demyelinating childhood cerebral adrenoleukodystrophy : Assessment of communication impairment |
| title_full_unstemmed | Progressive demyelinating childhood cerebral adrenoleukodystrophy : Assessment of communication impairment |
| title_short | Progressive demyelinating childhood cerebral adrenoleukodystrophy : Assessment of communication impairment |
| title_sort | progressive demyelinating childhood cerebral adrenoleukodystrophy assessment of communication impairment |
| topic | Adrenoleukodystrophy Communication Hearing impairment Speech and language ALD |
| url | http://www.sciencedirect.com/science/article/pii/S2950008724000127 |
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