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Approaches to study the lifelong trajectories of children with neurodevelopmental conditions

We argue that population-based studies are critical to overcome the selection bias seen in many clinical samples and to identify true variability within a...

Change in Gross Motor Abilities of Girls and Women With Rett Syndrome Over a 3- to 4-Year Period

We describe change in gross motor function over 3 to 4 years for 70 subjects participating in the Australian Rett Syndrome Database

Surgical fusion of early onset severe scoliosis increases survival in Rett syndrome: A cohort study

We investigated the impact of spinal fusion on survival and risk of severe lower respiratory tract infection in Rett syndrome.

Longitudinal hand function in Rett syndrome

Loss of hand function is a core feature of Rett syndrome. This article describes longitudinal hand function at 3 time points for 72 subjects participating...

CAGE-defined promoter regions of the genes implicated in Rett Syndrome

A comprehensive picture of the regulatory regions of the three genes involved in Rett Syndrome

Rett syndrome: establishing a novel outcome measure for walking activity in an era of clinical trials for rare disorders

This study investigated the capacity of three accelerometer-type devices to measure walking activity in Rett syndrome

Experience of gastrostomy using a quality care framework: The example of rett syndrome

Gastrostomy assisted the management of feeding difficulties and poor weight gain, and was acceptable to families

New insight into Rett syndrome severity

A research collaboration between Australia and Israel has identified a genetic variation that influences the severity of symptoms in Rett syndrome.

Bone mineral content and density in Rett syndrome and their contributing factors

This study used densitometry to investigate the areal bone mineral density (aBMD) and bone mineral content (BMC) in an Australian Rett syndrome cohort...

Measuring use and cost of health sector and related care in a population of girls and young women with Rett syndrome

This study measured use and cost of health sector and related services in Rett syndrome and effects of socio-demographic, clinical severity and genetic factors