This website was built by parents with children diagnosed with TBR1 syndrome or TBR1 related disorder, also called IDDAS (Intellectual Development Disorder with Autism and Speech delay). We started this website in November 2020, one year after starting the Facebook group TBR1 genetic mutations. As more and more families joined our Facebook Group and the amount of scientific information about TBR1 kept on growing, we felt we needed a website. We wanted to build a space where families, doctors and others who are interested in TBR1 can go to in order to find information. And as a bonus, we use this website to post stories about our amazing children and their developments.

At the moment our Facebook group has members from Canada, USA, Hawaii, Australia, Japan, South Korea, Malaysia, Brazil, Venezuela, UK, Scotland, Ireland, Norway, Sweden, Finland, Denmark, Latvia, The Netherlands, Belgium, Germany, Switzerland, Austria, France, Spain, Italy, Poland, Romania, Turkey, Ukraine, Russia and Israel. But TBR1 mutations are still very rare. That is why until now we have identified only around 190 children and adults with TBR1 syndrome varying in age from 1 to 71.

We know the exact mutation of appr. 125 of these children and that gives us a lot of information.

We discovered that symptoms of this rare disease vary depending upon the type (missense, frameshift or splicing) and location of the mutation on the TBR1 gene. In our group of children we have one large group of appr. 20 that share exactly the same mutation, namely T532Rfs*144. These children share a lot of the same symptoms and tend to be more severely disabled than the other children in our group; they are mostly non-verbal and non-mobile. Also, their symptoms are different than the other children in our group who mainly suffer from intellectual disability, autism and severe behavioral issues.

We discovered that epilepsy is a symptom that can appear throughout all type of mutations, but doesn’t have to appear at all. We have two children who share exactly the same missense mutation in the Tbox, one of them has severe epilepsy and the other one has no epilepsy that parents are aware of.

Also, in our group there are appr. 14 children who have a partial long arm deletion of Chromosome 2; 2q24.2 micro deletion syndrome. These children have multiple genes that are affected. TBR1 is one of these genes and seems to have a large impact on the symptons these children experience (see our library for background articles).

TBR1 children in general are kind-hearted, open and charming. It is easy to love them. But for parents and siblings it takes a lot of endurance and energy to take care of them. It is important that families get the right help very early on.

We invite parents of TBR1 children who visit this website to become a member of our Facebook community TBR1 genetic mutations. This is a private group where we share our experiences and give each other advice and support.

Enjoy your journey into TBR1,

Yvette Holmes, mother of Jack (15)

(Latest site update: October 24th 2024)