| Autor: |
Beate Peter, Jennifer Davis, Lizbeth Finestack, Carol Stoel-Gammon, Mark VanDam, Laurel Bruce, Yookyung Kim, Linda Eng, Sarah Cotter, Emily Landis, Sam Beames, Nancy Scherer, Ina Knerr, Delaney Williams, Claire Schrock, Nancy Potter |
| Jazyk: |
angličtina |
| Rok vydání: |
2022 |
| Předmět: |
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| Zdroj: |
HGG Advances, Vol 3, Iss 3, Pp 100119- (2022) |
| Druh dokumentu: |
article |
| ISSN: |
2666-2477 |
| DOI: |
10.1016/j.xhgg.2022.100119 |
| Popis: |
Summary: Precision medicine is an emerging approach to managing disease by taking into consideration an individual’s genetic and environmental profile toward two avenues to improved outcomes: prevention and personalized treatments. This framework is largely geared to conditions conventionally falling into the field of medical genetics. Here, we show that the same avenues to improving outcomes can be applied to conditions in the field of behavior genomics, specifically disorders of spoken language. Babble Boot Camp (BBC) is the first comprehensive and personalized program designed to proactively mitigate speech and language disorders in infants at predictable risk by fostering precursor and early communication skills via parent training. The intervention begins at child age 2 to 5 months and ends at age 24 months, with follow-up testing at 30, 42, and 54 months. To date, 44 children with a newborn diagnosis of classic galactosemia (CG) have participated in the clinical trial of BBC. CG is an inborn error of metabolism of genetic etiology that predisposes up to 85% of children to severe speech and language disorders. Of 13 children with CG who completed the intervention and all or part of the follow-up testing, only one had disordered speech and none had disordered language skills. For the treated children who completed more than one assessment, typical speech and language skills were maintained over time. This shows that knowledge of genetic risk at birth can be leveraged toward proactive and personalized management of a disorder that manifests behaviorally. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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