Presentation of the project

This site aims to provide

- parents of children with spinal muscular atrophy diagnosed by newborn screening with complete, understandable, objective and appropriate information through their referring physician

- health professionals with a resource base on newborn screening and early treatment of spinal muscular atrophy

Philosophy

• Each document can be customised, adapted to SMN2 copies number, and available treatments.
• The use of this site is entirely free of charge.
• We ask to users not to alter or translate the documents without permission. 
• All suggestions are welcomed. We are indeed happy to update these documents and allow the whole community to benefit from the most up-to-date version.
• We ask all translation to be done professionally and to be available to other users.

Meet the team

Method

A first version of the brochure was produced in collaboration with parents of children identified by newborn screening. This version was tested by a neuropsychologist with young parents from different socio-professional backgrounds whose child did not have spinal muscular atrophy.

The brochure was then improved on the basis of their feedback and tested again with a new group of parents.

Use

Any health professional can register to receive an access code. By ticking the box corresponding to the number of copies of SMN2 and available treatments, they will be able to access a downloadable compressed file with several text files. Country specificities are highlighted for possible modification.

Evolution

Videos will also be available in the future.

You are Doctor? Access the download form