Determinants of quality of life in Rett syndrome: New findings on associations with genotype

Rett syndrome is a genetically caused neurodevelopmental disorder associated with functional deficits and comorbidities. This study investigated relationships between genotype, functional abilities and comorbidities and quality of life in Rett syndrome.

Citation:
Mendoza J, Downs J, Wong K, Leonard H. Determinants of quality of life in Rett syndrome: New findings on associations with genotype. J Med Genet. 2021;58(9):637-44.

Keywords:
Genotype; movement disorders; nervous system diseases; phenotype

Abstract:
Rett syndrome is a genetically caused neurodevelopmental disorder associated with functional deficits and comorbidities. This study investigated relationships between genotype, functional abilities and comorbidities and quality of life in Rett syndrome.