کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
5589095 | 1569461 | 2017 | 6 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Genetic testing among Spanish pediatric neurologists: Knowledge, attitudes and practices
ترجمه فارسی عنوان
تست ژنتیک در میان متخصصان مغز و اعصاب اطفال اسپانیا: دانش، نگرش و شیوه
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کلمات کلیدی
آزمایش ژنتیک، مغز و اعصاب کودکان، آموزش پزشکی، مشاوره ژنتیکی، ناتوانی ذهنی، اتیولوژی،
موضوعات مرتبط
علوم زیستی و بیوفناوری
بیوشیمی، ژنتیک و زیست شناسی مولکولی
ژنتیک
چکیده انگلیسی
Advances in genetic testing applied to child neurology have enabled the development of genetic tests with greater sensitivity in elucidating an etiologic diagnosis for common neurological conditions. The objective of the current study was to examine child neurologists' perspectives and insights into genetic testing. We surveyed 118 Spanish child neurologists, exploring their knowledge, attitudes, and practices concerning genetic tests. All of them had requested at least one genetic test in the past six months. Global developmental delay or intellectual disability in absence of a strong specific etiologic suspicion and autism spectrum disorders were the disorders for which genetic testing was most frequently requested. The most commonly requested genetic test was CGH-array. Overall, child neurologist perception of readiness for making genetic-related decisions was not bad, although many would like to have a greater support from geneticists and were interested in increasing the time dedicated to genetics within their continuing education program. These data have important implications for future practice, research, and education.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: European Journal of Medical Genetics - Volume 60, Issue 2, February 2017, Pages 124-129
Journal: European Journal of Medical Genetics - Volume 60, Issue 2, February 2017, Pages 124-129
نویسندگان
J. DomÃnguez-Carral, J. López-Pisón, A. Macaya, M. Bueno Campaña, M.A. GarcÃa-Pérez, D. Natera-de Benito,