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Research

Resourceful and creative methods are necessary to research rare disorders

Our investigation used the infrastructure of InterRett, established in 2002 with dual aims of encour- aging international collaboration and ascertaining the...

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Genetic analysis reveals range of Rett syndrome

The first comprehensive analysis of the clinical effects of genetic mutations involved in Rett syndrome

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.

Research

Use of equipment and respite services and caregiver health among Australian families living with Rett syndrome

This study assessed factors that could influence equipment and respite services use among Australian families caring for a girl/woman with Rett syndrome and...

Research

Altered attainment of developmental milestones influences the age of diagnosis of rett syndrome

This study describes the attainment of gross developmental milestones and regression, and assesses the relationships between genotype and age at diagnosis.