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Research

Atypical presentations and specific genotypes are associated with a delay in diagnosis in females with Rett syndrome

There is often delay between onset of Rett syndrome symptoms and its diagnosis, possibly related to symptom presentation or socio-demographic factors.

Research

Hip displacement and scoliosis in Rett syndrome - screening is required

The prevalence of hip displacement and spinal deformity in a clinic population of females with Rett syndrome to define implications for screening and management

Research

The impact of having a sibling with an intellectual disability:parental perspectives in two disorders

This study describes the impact of having a sibling with Down syndrome or Rett syndrome using a questionnaire completed by parents.

Research

Physical and mental health of mothers caring for a child with Rett syndrome

This study compared the behavior profile of cases in the Australian Rett Syndrome Database (ARSD) with those in a British study using the 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

Family satisfaction following spinal fusion in Rett syndrome

We evaluated family satisfaction following spinal fusion in girls with Rett syndrome

Research

How can clinical ethics guide the management of comorbidities in the child with Rett syndrome?

This paper reviews the disorder Rett syndrome and evidence for the management of scoliosis and poor growth within a clinical ethics framework