Cognitive and Social Profiling; Exploring RASopathies (CASPER). This is a research study investigating children and young people aged 6 - 16 years who have a RASopathy disorder (including Noonan Syndrome, Cardio-Facio-Cutaneous (CFC) and Costello Syndrome). The purpose of this study is to identify what particular features individuals with these conditions have, so that they can be most effectively managed. This includes; common cognitive deficits (such as attention, concentration and visuospation learning), social commuication difficulties (such as Autism) and other related learning and behavioural problems.

The study is run by the University of Manchester in collaboration with the Manchester Centre of Geonomic Medicine and is funded by the Newlife Foundation Charity.

We are looking to recruit from across the UK (excluding Ireland) and have currently advertised with the Noonan's Syndrome Association and Costello Kids.

What the Study Involves

Permission will be obtained from the family to access information that you hold about their medical history and any tests performed to date. This information will focus on growth, health problems and development. We will also be contacting the child's teacher to provide information about the child's concentration at school.

The study includes carrying out a range of assessments looking at attention and concentration, learning abilities and social communication skills with eligible children and their caregivers/parents at one or two points in time. These assessments will take place during a home visit and will include:

  • Child Assessments - a range of assessments will be completed with your child which will take around 2.5 hours*.
  • Parent Assessments - an interview style assessment and two questionnaires with be completed with a parent which will take around 2.5 hours*.

If the consenting adult agrees, we will provide a report of our assessments for the family and referring professional team.

A sample of blood or saliva from the child may also be taken to check for genetic changes which may give rise to their condition. If a sample has been taken previously for genetic testing, this may be used. If no stored sample is available, then a new sample may be taken at a later date after the home assessment.

Eligibility Criteria


  • Children and young people aged between 6 - 16 years old with a RASopathy disorder
  • Informed consent provided by families so we can contact them


  • Developmental age below 18 months old
  • Any co-morbidity that would affect ability to collect data

Information Sheets and Protocol

Referring Participants

You are welcome to ring anyone on the research team to discuss a referral or seek further information about the study. If you think a child meets the above mentioned inclusion criteria, please:

  • Provide the families with the information sheets
  • Contact the research team with the families details who will then contact them directly to discuss the study further

Contact numbers for research team

Telephone: 07919 528164 or +44(0)161 3067953
email: or

Manchester Centre for Genomic Medicine: contacts

Telephone: +44(0)161 701 5104
email: or