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1.
Braz J Otorhinolaryngol ; 89(6): 101332, 2023 Sep 19.
Artigo em Inglês | MEDLINE | ID: mdl-37782991

RESUMO

OBJECTIVE: Translation and cross-cultural adaptation of The New Reynell Developmental Language Scales (NRDLS) to Portuguese spoken in Brazil. METHOD: We followed the steps recommended in the manual Multilingual Toolkit da NRDLS: translation of the test, adaptation of items from the scales, and use of NRDLS in a pilot study with Brazilian children. It was included a back-translation and analysis by a group of specialists in the area that helped to review the adapted version. A quantitative descriptive analysis of results from the pilot group was performed, and we used a one-way repeated measures ANOVA. RESULTS: The Brazilian Portuguese version of the NRDLS seems very similar to the original NRDLS in terms of conceptual equivalence. The children understood well the translated and adapted words, and they had more difficulty in the last sessions. Some of the mistakes made by the children helped us to adapt specific items for a better evaluation of the abilities of Brazilian children. CONCLUSION: The suggestions in the Multilingual Toolkit, the input from the group of specialists, and the experience with the children in the pilot group helped the adaptation of the NRDLS to Brazilian Portuguese. The adapted version of NRDLS was effective, it reflected the gradual evolution of complexity in the scales. We suggest the application of the adapted version in a large group of children with normal development to validate it.

2.
J Int Adv Otol ; 18(2): 192-195, 2022 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-35418370

RESUMO

The Brown-Vialetto-Van Laere syndrome or the riboflavin transporter deficiency syndrome is a neurodegenerative disorder initially reported by Brown in 1894, by Vialetto in 1936, and by Van Laere in 1966. The syndrome has been described in more than 100 patients since then. Hearing loss is the most common symptom of the syndrome, as most individuals have it through the development of the disease. Although there is a variation between the onset of hearing loss and the other possible symptoms, hearing loss usually begins in early childhood. Nevertheless, there are some cases describing hearing loss starting in adults. Hereby, we present a case report of a patient who started having the symptoms at the age of 14 and who had a mutation in the SLC52A3 gene, presenting with sensorineural hearing loss associated with cerebellar ataxia, who also underwent successful cochlear implant surgery.


Assuntos
Paralisia Bulbar Progressiva , Implantes Cocleares , Surdez , Perda Auditiva Neurossensorial , Adolescente , Paralisia Bulbar Progressiva/complicações , Paralisia Bulbar Progressiva/diagnóstico , Paralisia Bulbar Progressiva/genética , Perda Auditiva Neurossensorial/complicações , Perda Auditiva Neurossensorial/genética , Perda Auditiva Neurossensorial/cirurgia , Humanos , Proteínas de Membrana Transportadoras/genética
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