The GAIRS Checklist: A Useful Global Assessment Tool In Patients With Rett Syndrome

Abstract excerpt

<title>Abstract</title> <p><bold>Background: </bold>Rett Syndrome is a severe, neurodevelopmental disorder mainly caused by mutations in the MECP2 gene, affecting around 1 in 10,000 female births. Severe physical, language, and social impairments impose a wide range of limitations in the assessment of the abilities of Rett patients. This study proposes an analysis and first validation of a Global Assessment and I...

Topics

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• Gene Deletion
• Child, Preschool
• Methyl-CpG-Binding Protein 2
• Mutation
• Psychometrics
• Reproducibility of Results
• Rett Syndrome
• Surveys and Questionnaires

Identifiers and source

Literature Corpus work

6e9d11a9-691e-5b17-b6e4-49bb08294da3

DOI

10.21203/rs.3.rs-679708/v1