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Using a large international sample to investigate epilepsy in Rett syndrome

Using a large sample size, we investigated the relationships between epilepsy and genotype, and the impact of medications used on seizure management.

Seizures in Rett syndrome: an overview from a one-year calendar study

We collected information on a monthly basis on the patterns of seizures and medications of 162 girls in the Australian Rett Syndrome study over a calendar year.

Research

Parental perspectives on the communication abilities of their daughters with Rett syndrome

This study describes, from the perspective of parents, how females with Rett syndrome communicate in everyday life and the barriers and facilitators to...

Research

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...

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Access to Oral Healthcare in Individuals With Rett Syndrome: A Qualitative Study of Parent Perspectives

Intellectual and developmental disabilities (IDD) are varied in their nature and presentation. Barriers to oral healthcare are reported in studies of general populations with IDD but these may not reflect the barriers experienced by individuals with rare disorders such as Rett syndrome.

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Real-world benefits and tolerability of trofinetide for the treatment of Rett syndrome: The LOTUS study

Aim: To describe the real-world effects of trofinetide in individuals with Rett syndrome (RTT) using the 18-month follow-up analysis of the LOTUS study.

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Down syndrome or Rett syndrome in the family: Parental reflections on sibling experience

Siblings of children with intellectual disability have unique family experiences, varying by type of disability.

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Can telehealth increase physical activity in individuals with Rett syndrome? A multicentre randomized controlled trial

To evaluate the effects of a physical activity programme on sedentary behaviour and physical activity in ambulant individuals with Rett syndrome.

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Caring for a child with severe intellectual disability in China: The example of Rett syndrome

Intellectual disability affects more than 1.5% of the population of children in developing countries yet we know little about the daily lives and support...