Apraxia or Potocki-Lupski Syndrome?

It seems that Childhood Apraxia of Speech (CAS) is often diagnosed in tandem with other disorders as there are plenty of stories where the children were also labeled autistic. There are also other medical conditions that manifest in many of the same ways as CAS and frequently the child will show symptoms shared by both. The one that most recently caught my eye is called Potocki-Lupski Syndrome, see below.

“Potocki-Lupski Syndrome (PTLS) is a genetic disorder characterized by the presence of an extra copy of a tiny portion of chromosome 17 ( duplication of 17p11.2). People with this duplication often have low muscle tone, poor feeding, and failure to thrive during infancy.” – PTLS Outreach Foundation

I’ve come across mention of this condition in quite a few places and was easily able to find a plethora or information online. Of course, I went right for the symptoms to see how Rafa lined up. Wide bridge of the nose? Not really. Excess hair on body? Not yet. Gastroparesis or acid reflux? Who knows. Early puberty?! I hope not.

Here are a few of them symptoms that I could check off the list:

  • Poor feeding
  • Low muscle tone
  • High arched palate
  • Poor fine motor skills
  • Quiet during and after birth
  • Happy, friendly children. Smiles all the time!
  • Excellent with electronics
  • Elevated levels of anxiety, especially in unfamiliar situations
  • Speech delays
  • Very intuitive to emotions of others around them

So what’s next? Well, it seems like this syndrome can actually be diagnosed by doing some genetic testing. The genetics team at our University spent the first year of Rafa’s life subjecting us to very abstract exams that left us feeling a bit used and uncertain. “His eyes are set half a millimeter wider than normal.” “The high palate could be genetic, so could his big head.” “We’re going to test just for the sake of research.” (I don’t think they actually said that but that’s what I heard on several occasions.) Anyway, we have a history with genetics so I called the University and asked them to check if they had ever checked for this chromosomal abnormality. They said they hadn’t and connected me to the developmental pediatrician. This is one of those specialists that you have to wait for 6 months to see and, of course, she said she couldn’t request the PTLS test until she examined Rafa and interviewed us. When? We’ll get a call in a few months to schedule the first meeting…

There are some more “severe” symptoms that don’t show up for our little guy and I don’t actually think he has PTLS, it’s just another one of those things that we’d like to cross off the list so we can move on to the next possibility. That said, maybe it’s something that you want to check into so you can also eliminate another potential diagnosis.

~ Tim

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