SATB2 Meeting With Geneticist

We had our genetic consultation in Salt Lake City today. When Chelsea got her testing done in November through December 2015, I kept calling and calling her neurologist until he just sent me the results to keep me quiet. So to summarize: Chelsea has a 141,000 gene pair deletion from the 2^nd chromosome, on the long (q) arm at the band 33.1 (said three three point one, not thirty three point one). That sound like a lot, but is actually super tiny. She doesn’t have a full deletion of the SATB2 or SATB2-AS1 genes, but enough to make them non-functional.

Chelsea has some facial features that are consistent with
other kids with SATB2 Associated Syndrome. She has a prominent forehead, wider set eyes, high palate, and a slender, long face. She also has some gaps in her teeth. The geneticist said that she is most likely have missing/ enlarged teeth when her adult teeth come in. Since she is still so little, she only has baby teeth.

The one thing that completely floored the geneticist was Chelsea’s verbal abilities. She has at least 125 words that she can speak well enough for me (Mom) to understand, and when we pair her ASL signing with verbal approximations, the number goes up to over 600 words that she can communicate. She also knows her letters, numbers, and colors, can write a couple letters and draw happy faces. After meeting with her, the geneticist was interested in sharing her story at a genetics conference, which was cool.

SATB2 Associated Syndrome commonly presents with several different features, like the facial abnormalities I previously described, as well as a cleft or high palate, profound expressive language difficulties, receptive language problems, slower cognitive functioning (I don’t like using the R word), and poor coordination.

We had a CMA test done, which stands for Chromosomal Microarray Analysis. The way the geneticist described it, the test is like getting an encyclopedia and looking to see if there are any pages missing, but not necessary checking the spelling on each word on each page.

Anyway, here are some of the questions I asked during our visit, and summarized answers that the geneticist gave. He did ask if I heard anything contrary to these answers to please let them know.

Are seizures common for SATB2 kids?

From what we have gathered from such a small research group, yes. Subclinical seizures are often common for these individuals, but frequently go undiagnosed and untreated, since the person isn’t having convulsions.

Are there any heart defects often associated with SATB2?

None.

Are there any specific dietary or nutritional needs that this syndrome would necessitate?

No.

What kind of research is being done on SATB2 Associated Syndrome?

Right now, researchers are just trying to gather a database of people so that we can begin studying this. Because it is so new and so rare, it is difficult to study. We can’t just pull a random group of 100 individuals to do a long-term study with because there aren’t near that many. Not all kids with genetic disorders get diagnosed, and the ones who come up on the radar as having problems are frequently labeled as autistic without getting a genetic test. Once we do have more test subjects, we will be able to conduct more long-term studies, test for high-functioning variants of the syndrome, etc.

(Update #1: There is a study that started collecting data in March 2016)

(Update #2: As of November 2016, there is a new study about SATB2 Associated Syndrome, published by the syndrome's leading expert Yuri Zarate! Here is the link!)

Is this hereditary?

No. This was a random deletion and either you or your husband would have had to have the deletion to pass it on. If Chelsea ever goes on to have children, they will have a 50/ 50 chance of having the same condition.

Will her condition improve, stay the same, or worsen over time?

She will still be able to learn new things, but her condition will remain stable, neither improving or worsening.

What is the long-term prognosis for SATB2 Associated Syndrome?

Usually, the kids with SATB2 have very little or no speech, and will never be able to live on their own. However, since there are so few people who have this, it has been very difficult to study these individuals long term. Chelsea has a lot of language and will most likely continue to progress, so there is no definite answer.

I read that SATB2 is a common marker when people are being tested for osteosarcoma (bone cancer). How would Chelsea be able to be checked if that ever became an issue?

There are other markers that doctors can check for. SATB2 is just one of many.

Do these kids have a normal lifespan?

From what we can tell, yes. The oldest person we are aware of is 31.

What kind of therapy do you recommend?

Continuing with speech, occupational, and physical therapy. She has made remarkable progress in the 3-4 years you have done therapy with her, and I recommend to keep on doing exactly what you are doing. Make sure it is Chelsea based- focus on what her strengths are and what she is successful at in high quantities, and also hit some of the areas where she really struggles as well.


She had an MRI when she was 2 that came back clean; is there any reason to get a second MRI once she is a little older?
No, not unless you see things like regression of skills, constant headaches, or something that would indicate tumor growth.

That is about all! It was a great day! Just one last thing, here is a link to my favorite website that talks about SATB2, created by the geneticist that is working with our SATB2 kids!

http://satb2gene.com/