What is paediatrician looking for?

[Lionsmanez]

Had my DS4’s first paediatrician appointment today - GP referred him as I’m worried he’s delayed developmentally, especially his mobility.

He didn’t walk until 18 months, still uses a pram as he gets tired easily, finds stairs difficult, can’t hop or jump properly and can’t stand on one leg. He can’t keep up with peers in his class, play football and generally has the gait of a 2 year old if that makes sense.

He also has sight and potentially hearing problems and a speech delay aswell as chronic constipation.

paediatrician checked his legs and arms, spend quite a while doing his reflexes in his legs, noticed he still got up from sitting down by using his hands on the floor. She referred to physio and wants genetic testing and will see her again in 6 months but hasn’t really said what she’s looking for?

Some genetic conditions can be found by doing a karotype test. All the chromosomes of the DNA are put in sequence and they can tell if there is something extra or something missing. For instance 'Downs Syndrome' is also known as trisomy 21, because people with the condition have an extra chromosome 21, which causes their difficulties. If there are unexplained developmental delays, the paediatrician will request genetics to see if there is a genetic reason.

Have you thought about cerebral palsy? It sounds like they're looking at genetic conditions, have they ordered an MRI too? Cerebral Palsy would usually be confirmed with an MRI.

@UnbeatenMum no, no mri. Just said they’re doing genetic testing (but only chromosomes), and will check things like his liver, anaemia, vit D, muscle protein.

@Lionsmanez my DS who is also 4 has some similar issues with his mobility although slightly milder, also speech issues. We don't have a diagnosis yet as we're waiting for a follow up paediatrician appointment but we know he has something called PVL (white matter brain damage) so I think the diagnosis will be Cerebral Palsy.

@UnbeatenMum was that diagnosed through a MRI? That’s something I’ll push for, but think she thought it wasn’t likely as DS wasn’t premature, had no head injuries and developed normally until around 18 months.

So hard waiting for answers isn’t it!

Yes, he had an MRI at a much younger age for different reasons but at the time there weren't obvious mobility issues.

Also sometimes brain damage can occur in the womb, although I think it is rarer.