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Longitudinal trajectory of gross motor skills in school-aged children with Rett syndrome

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.

Clinical guidelines for management of bone health in rett syndrome based on expert consensus and available evidence

A clinically significant history of fracture in combination with low bone densitometry findings is necessary for a diagnosis of osteoporosis in Rett Syndrome

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...

The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy

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

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...

The experiences of mothers of young adults with an intellectual disability transitioning from secondary school to adult life

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

Community participation for girls and women living with Rett syndrome

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

Perspectives on hand function in girls and women with Rett syndrome

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

The phenotype associated with a large deletion on MECP2

Multiplex ligation-dependent Probe Amplification (MLPA) has become available for the detection of a large deletion on the MECP2 gene.

A validation study of a modified Bouchard activity record that extends the concept of 'uptime' to Rett syndrome

The aim of this study was to investigate the validity of using a Bouchard activity record (BAR) in individuals with Rett syndrome to measure physical...