DATABASE

The database of the RING 14 International Association is one of the tools that will allow the association to fully develop its Diagnostic Project. The Diagnostic Project will be used for Ring14 patients and for patients with all the aberrationa associated to chromosome 14 .

The database will allow us to have an important preliminary information. The database will also allow us to re-organize and read this information from different angles. The database will complement genetic, neurometabolic, neurofisiological, neuroimaging, and neuropsicological exams.

The first part of a questionnaire will be sent to all members’ families. This first part of the questionnaire is composed of 31 ‘chapters’ that have been written by our researchers. The questionnaire includes open, multiple choice, and yes-no types of questions. The questions are related to all the clinical and developmental aspects of the children.

Once we receive the first part of the questionnaire, a second part will be sent to the families. This part will have ‘sub-chapters’, which will be relative and relevant to the affirmative answers received from the first part of the questionnaire. Alongside the two parts of the questionnaire, we will ask the families to send us all the medical documentations they have and some photos of the children.

Our researchers will put the data into the database whose access is reserved only for the Board of Directors of the association, our Scientific Committee, and our researchers.

The president

Stefania Azzali