The Kleefstra syndrome parent survey was carried out in June 2018 and was distributed over social media for parents or primary carers of people diagnosed with Kleefstra syndrome to complete. There were 179 respondents from 22 different countries, regarding people with Kleefstra syndrome ranging from under 12 months up to 38 years old.

The aim of this short survey was to try to provide some answers to those common questions that pop up fairly frequently especially for those with a new diagnosis, such as how old was your child when they started to walk, how many children also have an autism spectrum diagnosis, and so on.

It is important to remember that there is a large spectrum of symptoms in Kleefstra syndrome, and no two children are the same. Everyone develops at their own rate. Consult with professionals for specific medical or therapeutic advice as required. And do not give up!

We should also note that due to the rare nature of the syndrome, the sample size completing the survey is small and so results may not be generalisable. Some questions are reliant on people’s memories which may also affect reliability.

We are grateful to all the families across our community that took the time to complete this survey – thank you.