| Autor: |
Jorrit Tjeertes, Carlos A. Bacino, Terry Jo Bichell, Lynne M. Bird, Mariana Bustamante, Rebecca Crean, Shafali Jeste, Robert W. Komorowski, Michelle L. Krishnan, Meghan T. Miller, David Nobbs, Cesar Ochoa-Lubinoff, Kimberly A. Parkerson, Alexander Rotenberg, Anjali Sadhwani, Mark D. Shen, Lisa Squassante, Wen-Hann Tan, Brenda Vincenzi, Anne C. Wheeler, Joerg F. Hipp, Elizabeth Berry-Kravis |
| Jazyk: |
angličtina |
| Rok vydání: |
2023 |
| Předmět: |
|
| Zdroj: |
Journal of Neurodevelopmental Disorders, Vol 15, Iss 1, Pp 1-21 (2023) |
| Druh dokumentu: |
article |
| ISSN: |
1866-1955 |
| DOI: |
10.1186/s11689-023-09494-w |
| Popis: |
Abstract Background Angelman syndrome (AS) is a rare neurodevelopmental disorder characterized by the absence of a functional UBE3A gene, which causes developmental, behavioral, and medical challenges. While currently untreatable, comprehensive data could help identify appropriate endpoints assessing meaningful improvements in clinical trials. Herein are reported the results from the FREESIAS study assessing the feasibility and utility of in-clinic and at-home measures of key AS symptoms. Methods Fifty-five individuals with AS (aged |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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Full text from SpringerLink