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Showing results for "rett"
We used multiplex ligation-dependent probe amplification to examine the MECP2 gene sequences in 149 girls and 1 boy.
Staying physically active is an important part of a healthy lifestyle. ActiveRett is a dedicated resource for helping families support their child with Rett syndrome to keep active.
Research Officer
We have recently developed recommendations to support clinical practice for gastro-intestinal disorders including growth and scoliosis in Rett syndrome.
Regression, including the loss of previously learned skills, such as hand function and communication skills, is one of the most suggestive features of Rett synd
We aim to ensure that high quality outcome measures are available to evaluate treatments and services for children with disability rigorously. We aim to translate our research into resources to support families, carers and clinicians.
We investigated the occurrence of altered pain sensitivity as well as how these altered reactions to pain were observed during daily life.
The internet is emerging as a valuable tool for scientists to gather data for critical research into rare diseases.
We investigated what parents thought about the ways to manage scoliosis and what they thought they needed to help them better manage their daughter's scoliosis.
We also wanted to find out whether any particular behaviours were associated with any specific mutation types.