Cognitive and Social Profiling: Exploring Rasopathies (CASPER) study

Project Details


The Cognitive and Social Profiling: Exploring Rasopathies (CASPER) study was 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.

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

To do this, we investigated whether there are common cognitive deficits (such as attention and visuospatial learning) and compared our findings with those from studies on children with neurofibromatosis Type-1 (NF1), another disorder on the RAS-MAPK pathway.

Because 25% of children with NF1 have Autism Spectrum Disorder (ASD), we were also interested to see whether there is a prevalence of ASD in children with CFC, NS and CS.
Short titleR:KAF LEHAa758
Effective start/end date1/06/1131/01/15


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