Musings of a Marfan Mom

I’m going to start this post with my usual disclaimer: I’m not a doctor so please don’t take anything I write here as medical advice.

You won’t find much of a connection between speech/language delays and Marfan syndrome in the literature. A quick search on PubMed turned up 0 papers, and checking Google scholar found me a 1997 paper that found no link and a 2004 that found a possible link, but that was looking at patients with joint hypermobility syndrome, not Marfan.

However, I’d like to argue that there is a link in delays, but not in disorders. First, I’ll explain the difference between the two. A delay is a normal pattern of development that is happening at a slower than normal pace. A disorder is when the pattern of development is abnormal. Make sense?

Baby J was 7 months old at the NMF conference this summer, but not yet babbling. Since he was fortunate enough to have a clinic appointment with a member of the Professional Advisory Board, I thought I’d ask the doctor if there might be any sort of connection. At first he said no, which is what I had expected. Then he thought a moment and said “well, Marfan does cause low muscle tone, so I suppose if a child had low oral tone there might be a speech delay.”

And that makes a lot of sense. If your muscles are weak everywhere else, they’re probably going to be weak in your mouth/jaw as well. That makes it more difficult to complete the tasks that set the stage for speech, like sucking and chewing, let alone form the sounds for pre-speech. We know that this is definitely an issue for Baby J, and his OT gave us a little tool to work on strengthening his lips and jaw.

I don’t think low oral tone is the only thing to it though. We know gross and fine motor delays are very common in kids with Marfan syndrome. J didn’t sit up or roll over till 8 months, didn’t crawl till 10 months. With both of my sons being in our state’s early intervention program, we’ve learned a bit about child development. Development happens in spurts and stages, but still a more or less linear fashion. A typical baby will probably roll before babbling, and babble before crawling, for example. Because of J’s delays (which are not uncommon delays in Marfan), he is spending all his energy catching up on motor skills that he should have mastered awhile ago. This doesn’t leave him time/energy to work on the skills he should be mastering right now. At almost 13 months, J should be speaking his first word soon, or at least doing a good deal of babbling with different sounds. Instead, he has just started saying “ba, da, ma, & ya” and doesn’t yet mimic other people’s sounds. Multiple therapists have told us that his speech delays are in part a result of his motor delays.

The more parents of kids with Marfan that I meet, the more I’m hearing about speech delays. It seems really logical to me that a combination of low oral tone and motor delays are to blame, and you can see how these are related to Marfan. Are speech delays a diagnostic criteria of Marfan? No. They are not “part of” Marfan like aortic aneurysms, scoliosis, and detached retinas are. It’s my belief though, that speech delays are something to add to the list of “things that are indirectly caused by Marfan.”

I could probably write a whole post on why we’re not seeing literature on all these things related to Marfan, but it comes down to this. Research funding is hard to come by. We haven’t cured the life-threatening aspect of this disorder yet. So, I think until we do, the bulk of research is going to focus on quantity of life vs quality of life. That doesn’t mean those connections don’t exist, just that no one is getting paid to record them.

If you suspect that your child may have a speech (or any other kind of) delay, consider getting him/her evaluated for services. If you’re in the US and your child is under the age of 3, you can get a free evaluation and free services from your state’s early intervention office. [In California that is Early Start.] If your child is 3 or older, your school district can provide a free evaluation and services.

The opinions offered at Musings of a Marfan Mom are for informational purposes only and are not intended to be a substitute for professional medical advice, diagnosis or treatment. Always seek the advice of a qualified healthcare provider with any questions you may have regarding Marfan syndrome and any medical condition. Never disregard professional medical advice or delay in seeking care because of something you have read here.