Validation of a modified version of the gross motor function measure in PPPR5D related neurodevelopmental disorder

Abstract Background Protein phosphatase 2 regulatory subunit B’ Delta (PPP2R5D)-related neurodevelopmental disorder is a rare genetic condition caused by pathogenic variants in the PPP2R5D gene. Clinical signs include hypotonia, gross motor delay, intellectual disability (ID), epilepsy, speech delay...

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Principais autores:	Cara H. Kanner, David Uher, Kyle Zreibe, Gabriella Beard, Madison Patterson, Matthew Harris, Jerome Doerger, Sean Calamia, Wendy K. Chung, Jacqueline Montes
格式:	Artigo
语言:	Inglês
出版:	BMC 2024-02-01
丛编:	Orphanet Journal of Rare Diseases
主题:	Outcome measures Clinical trials Motor function Neurodevelopmental disorders Natural history Gross motor function measure (GMFM)
在线阅读:	https://doi.org/10.1186/s13023-024-03067-3
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