Common Features of SATB2

SATB2 Associated Syndrome involves a gene on chromosome 2 being deleted or mutated to the point that the gene is incapable of performing it's duty.

 

Common Features of Kids Who Have SATB2 Are:

Dental Abnormalities

These kids will most likely have some dental issues, ranging in severity. Commonly, they have large and widely spaced front teeth. You can see it on Chelsea here:

High/ cleft palate

These kids will most likely have a high or cleft palate. If you stick your tongue up to the roof of your mouth, that is it. Chelsea used to stash bread up there for HOURS and we had no idea, then would drool out this glob of slobbery bread up to half the size of my fist. Ready for the funny/ gross video?

 

Limited Speech or Non-verbal

Depending on the severity at which the child was affected, these kiddos often have limited (we are talking 3-10 words here) or no speech. Signing abilities may or may not be present. PLEASE don’t tell us that Einstein didn’t talk until he was 3 or 5 or 14 or whatever, because 1) it is historically inaccurate- he was actually speaking in complete sentences at 2 and 3, and 2) he didn’t have a genetic disorder. I know those who say this mean well, but there is a lot of grief that we feel because we may never hear our child say “I love you”, and that is hard, so we probably just need a friend to listen, and we love our kids for just who they are.

Motor Planning Difficulties

If you look up “global apraxia” you will find great info on this. Pretty much, the brain tries to send messages to the muscles all over your body, but they don’t go through, or else partially go through. Example: You want to pick up a pencil. Your brain has to gauge the distance between your fingers and the pencil, send messages for your core to stabilize, shoulder engage, arm reach out, fingers open then close around the pencil and then lift. (That is the VERY abbreviated version!)

There are hundreds of steps that go into every single action that your body engages in that we take for granted! If there is a disconnect between the brain and muscles, there will be problems with coordination. These kids may fall often, have difficulty with grasping, poor strength, low muscle tone, etc. Any kind of action is very, very difficult for them and requires great focus!

Seizures

The more of these awesome SATB2 kiddos I get to know, the more I realize how common seizures are. Not necessarily grand mal (shaking all over) seizures, but also subclinical ones, meaning their brains might “reboot” or “go to sleep”. Here is the blog on silent seizures

 

Intellectual impairment

I love and hate talking about this, because on one hand, I love being able to tell people that just because my kiddo was diagnosed a low IQ, she isn’t dumb. That doctor only saw her for a few hours, and you can’t judge anyone’s future on that little of time. She still learns lots of things, it just takes a little while longer, which is fine! I don’t mind and really don’t notice much anymore because she is just Chelsea to me and fun to be with. On the other hand, there are SO many stereotypes about people with low IQs, and it is hurtful to hear the R word tossed around in everyday speech. It also is painful to watch people make assumptions about these sweet kids who are so much MORE than a number on a page or a statistic.

 

Delayed or impossible potty training

This is probably one of the hottest topics for special needs parents! Every parent wants their kid to learn to use the potty, but if I had a dollar for every time I have heard someone tell me “Well, it isn’t like she will crawl off to kindergarten in a diaper and not talking!” I would be a rich woman. There ARE kids who can’t walk, talk, or use the toilet by kindergarten! You just don’t see them because they usually go to other schools, or are kept in small group classes away from “typical” kids partially so they don’t get made fun of.

But anyway- these kids can’t “feel” their bodies as well as most kids, so can’t tell when they are about to go, or let you know if they do need to go! I think out of the 30ish kids that I know of that have SATB2, I am aware of 2-3 that are potty trained. It CAN be done! But it is a loooooooooooong road and frequently impossible, again, depending on the severity.

How to sign "potty" in ASL

Sensory Issues

Another common one that I have discovered simply by talking to other parents is sensory issues. This might mean they aren’t aware of their bodies, so seek high pressure activities, like swinging, swimming, big hugs, tight clothes, hammocks, being squeezed, etc. This could also be seen orally- putting odd items in their mouths to get more sensory input, like how Chelsea will try to chew on pebbles or clothing or grind her teeth. (We give her pop rocks to fulfill that sensory need- works awesome!) There are so many different sensory things that I can’t list them all here!

 

Drooling

Because of the dental issues, poor body awareness, and motor control difficulties, there is lots of drool. These kids don’t realize they are doing it, it just happens.