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The first major national study into the cost of providing late intervention services to children and young people has called for smarter and wiser expenditure to ensure children receive vital support services at a much earlier stage.

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The nuanced message conveys the foundational importance of child development in the early years but avoids triggering concerns there are no opportunities to intervene at a later age.

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The integration of multi-omics approaches with clinical research will be, without doubt, a cornerstone of future innovation in medical practice.

MECP2 duplication syndrome is a rare disorder neurodevelopmental disorder that, unlike Rett syndrome, mostly affects boys.

Our research covers a broad range of areas from the influence of mutation type on health outcomes to factors impacting on the lives of familes.

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

Our study investigated the quality of measurements obtained using the Rett Syndrome Gross Motor Scale.

We wanted to compare the frequency of fracture episodes, and factors associated with a fracture, in females with Rett syndrome, compared to general population.

Our study investigated the impacts of spinal fusion on survival and the risk of developing respiratory infections in females with Rett syndrome.

We wanted to examine the effects of spinal fusion surgery to treat scoliosis on the functional abilities of girls and women with Rett syndrome.