Dear parent(s) / caregiver(s),
We would like to ask you to help us with a study on children and adults with Cornelia de Lange syndrome who have a change in the gene SMC1A. This is a truly Europe-wide study on both the physical and behavioural characteristics of the children and adults. There are only a limited number known to us, and doing the study in a single country would yield only limited information. But doing this for all in Europe should give us a treasure of information! Surely we will inform all participants eventually about the results.
If your child has a change in SMC1A we ask now only whether you can and are willing to join in in this study. You can email us at email@example.com or firstname.lastname@example.org to inform us about this.
If you do we will forward to you a questionnaire on behaviour which you can fill out, and we will ask your paediatrician / clinical geneticist for some basic data, for instance which change in SMC1A has been found and other physical data. The behavioural questionnaire takes about 15-20 minutes to fill out.
By gathering all knowledge and experience of both families and physicians we hope we will obtain information really useful for everyone with a change in this gene. We hope you will be willing and able to help us with this!
Sylvia Huisman, MD
Paul Mulder, behavioural scientist