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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.

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

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

The trajectories of sleep disturbances in Rett syndrome

This paper demonstrated that the evolution of sleep problems differed between subgroups of girls and women with Rett syndrome, in part explained by age and...

Community participation for girls and women living with Rett syndrome

This paper aimed to describe the relationships between level of impairment and participation in community activities for girls and women with Rett syndrome.

Initial assessment of the StepWatch Activity Monitor™ to measure walking activity in Rett syndrome

In girls and women with Rett syndrome, we assessed the accuracy of the StepWatch Activity Monitor™ and investigated relationships between daily step counts,...

Meningiomas in children and adolescents: a meta-analysis of individual patient data

The epidemiological, prognostic, and therapeutic features of child and adolescent meningioma are poorly defined...

Linking MECP2 and pain sensitivity: the example of Rett syndrome

This study investigated the nature and prevalence of atypical pain responses in Rett syndrome and their relationships with specific MECP2 mutations.

Stereotypical hand movements in 144 subjects with Rett syndrome from the population-based Australian database

Stereotypic hand movements are a feature of Rett Syndrome but few studies have observed their nature systematically.

Measuring the Burden of Epilepsy Hospitalizations in CDKL5 Deficiency Disorder

Information on the hospital service use among individuals with CDKL5 Deficiency Disorder, an ultrarare developmental epileptic encephalopathy, is limited, evidence of which could assist with service planning. Therefore, using baseline and longitudinal data on 379 genetically verified individuals in the International CDKL5 Disorder Database, we aimed to investigate rates of seizure-related and other hospitalizations and associated length of stay in this cohort.