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Principal Research Fellow
Families participating in the population-based and longitudinal Australian Rett Syndrome Database whose daughter had undergone spinal fusion provided data on...
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...
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.
The Rett Syndrome Behaviour Questionnaire (RSBQ) describes behavioural and emotional features. This study investigated total RSBQ score trajectories and their clustering, and for trajectory groups, relationships with genotype and mobility, weight-for-age z scores, and seizure frequency.
In children with Rett syndrome, this study aimed to (1) describe gross motor skill trajectories; and (2) analyse the influences of genetic variant and comorbidities. This was a prospective longitudinal study conducted at the Danish National Center for Rett Syndrome 2008 to 2022. The Rett Syndrome Gross Motor Scale (RSGMS) was administered, and clinical data collected at each visit.