About CASPER

The Cognitive and Social Profiling: Exploring Rasopathies (CASPER) study is a research study into a group of conditions called the RAS-MAPK pathway disorders. These disorders arise due to changes in genes, the instruction manuals of the body's cells. RAS-MAPK pathway disorders include cardio-facio-cutaneous (CFC), Noonan (NS) and Costello (CS) syndromes. People with each of these conditions can have similar problems to one another, which is because all of the disorders involve changes in the way that the RAS-MAPK pathway works in the cells of the body. People may have a wide variety of problems including heart disease, poor growth and skin changes. Additionally they can have problems with attention and concentration, learning and social communication skills.

Aim

This study aims to identify what particular features individuals with these conditions have, so that they can be most effectively managed.

This will include:

  • Investigating whether there are common cognitive deficits (such as attention and visuospation learning) in the disorders on the RAS-MAPK pathway.
  • Investigating the cognitive and social profile of CFC, NS and CS and the related learning and behavioural problems to enable clinicians to provide better care for the children and their families.
  • Comparing these findings with recent studies investigating children with neurofibromatosis Type-1 (NF1), which is another disorder on the RAS-MAPK pathway. Recent findings suggested that 25% of children with NF1 have Autism Spectrum Disorder. Therefore, as children with NF1 and these other syndromes are on the same genetic pathway, we are also interested to see whether there is a prevalence of Autism Spectrum Disorders in children with CFC, NS and CS.

What are Autism Spectrum Disorders (ASD)?

ASD is a condition which roughly affects 1 in 100 people. It affects communication and how someone relates to other people. It also affects how people make sense of the world around them. It is a ‘spectrum’ condition which means that difficulties vary from child to child from mild to severe. Children with ASD often struggle academically; find it difficult to make friends and ‘fit-in’.

For more information visit: National Autistic Society website

Who can participate?

Recruitment to the CASPER study has now finished and we are currently analysing the results and preparing them for publication.