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Atypical presentations and specific genotypes are associated with a delay in diagnosis in females with Rett syndromeThere is often delay between onset of Rett syndrome symptoms and its diagnosis, possibly related to symptom presentation or socio-demographic factors.
Behavior and mutation type
We also wanted to find out whether any particular behaviours were associated with any specific mutation types.
A validation study of a modified Bouchard activity record
We compared parent/carer-reported physical activities with the number of steps counted by an accelerometer in girls and women with Rett syndrome.
Physical and mental health of mothers caring for a child with Rett syndrome
We wanted to find out whether mothers with a child with Rett syndrome who were more physically and mentally healthy had particular characteristics.
Family satisfaction following spinal fusion in Rett syndrome: a cohort study
This study evaluated sixty-one families' satisfaction following spinal fusion in girls with Rett syndrome.