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What does better look like in individuals with severe neurodevelopmental impairments? A qualitative descriptive study on SCN2A-related developmental and epileptic encephalopathy.

Jennepher Anne DownsNatasha N LudwigMary WojnaroskiJessica KeeleyLeah Schust MyersChere A T ChapmanJayEtta Z HeckerGabrielle ConeckerAnne T Berg
Published in: Quality of life research : an international journal of quality of life aspects of treatment, care and rehabilitation (2023)
Meaningful change thresholds have not been evaluated in the DEE literature. This study was a preliminary qualitative approach to inform future studies that will aim to determine quantitative values of change, applicable to groups and within-person, to inform interpretation of specific clinical outcome assessments in individuals with a DEE.
Keyphrases
  • early onset
  • systematic review
  • high resolution
  • current status
  • mass spectrometry
  • case control
  • congenital heart disease