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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.

A severe neurodevelopmental disorder mostly affecting girls.

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.

This study aimed to validate qPCR assays for specific microbiota, for use on dental plaque samples stored on Whatman FTA cards to compare relative oral health risk in Rett syndrome.

Hand function is particularly affected and we discuss theoretical and practical perspectives for optimising hand function in Rett syndrome.

Participation for girls and women with Rett syndrome could be enhanced by stronger local community supports.

The transition from school to adulthood for young adults with an intellectual disability involves movement from a generally secure and supported school...

The clinical understanding of the CDKL5 disorder remains limited, with most information being derived from small patient groups seen at individual centres.

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...

Our findings provide additional insight into the early clinical profile of Rett syndrome.