Welcome to My Survey

Dear Parent,

My name is Niamh McDevitt, and I am a PhD student at Trinity College Dublin School of Medicine, working on a project that aims to better understand brain function in children affected by rare genetic and neurodevelopmental disorders, including Fragile X Syndrome and Autism Spectrum Disorder.

According to the European Union Committee of Experts on Rare Diseases (EUCERD), between 6 and 8% of the population are affected by rare disorders. This adds up to more than 270,000 people in Ireland.

While these rare diseases certainly differ in many ways, they share a set of common challenges. One challenge is the lack of scientific research into these rare genetic disorders. Research is particularly difficult due to the small numbers of participants available. In order to maximise the impact and validity of research into rare genetic disorders, it is paramount for as many families as possible to take part in research studies.

Since I have started working in this area I have found that there is a disconnect between what parents of children with these disorders think are the priorities for research and what research scientists feel are areas of importance. I have designed this survey with a hope to shed a light on this issue and to move towards a more balanced research approach in the future. I am very interested in learning what the parents of children with either rare genetic disorders or Autism Spectrum Disorder (ASD) think about research, and what factors might be barriers to their participation in research.


Niamh Mc Devitt.