Leveraging Cognitive and Speech Ecological Momentary Assessment in Individuals With Phenylketonuria: Development and Usability Study of Cognitive Fluctuations in a Rare Disease Population

Leveraging Cognitive and Speech Ecological Momentary Assessment in Individuals With Phenylketonuria: Development and Usability Study of Cognitive Fluctuations in a Rare Disease Population

BackgroundPhenylketonuria (PKU) is a rare, hereditary disease that causes disruption in phenylalanine (Phe) metabolism. Despite early intervention, individuals with PKU may have difficulty in several different cognitive domains, including verbal fluency, processing speed, and...

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Main Authors: Shifali Singh, Lisa Kluen, Katelin Curtis, Raquel Norel, Carla Agurto, Elizabeth Grinspoon, Zoe Hawks, Shawn Christ, Susan Waisbren, Guillermo Cecchi, Laura Germine
Format: Article
Language:English
Published: JMIR Publications 2025-06-01
Series:JMIR Formative Research
Online Access:https://formative.jmir.org/2025/1/e63644
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