Advanced search

Here are some suggested organisations that offer expert advice on SN.

Would I know if my daughter had Downs syndrome?

(8 Posts)
mamapants Tue 22-Dec-15 19:05:39

Sorry I feel a bit daft asking this.
But am a bit worried about my daughter, but think normally down syndrome is diagnosed right away isn't it?
She has kind of slanted eyes with a fold. And the one line across the hand which I read is more common in children with down's.
She is 18mths and She only has a couple of words and I'm not sure she understands me a lot if the time. She is walking but was about 16months when she started walking. Way behind her older brother on milestones.
Is it likely that down syndrome would go undiagnosed? Anybody have experience of a child with downs and what they were like at 18months.

chocadd1ct Tue 22-Dec-15 19:33:32

I think it can happen. there are different types of DS such as mosaic DS which can be harder to dx (I have a DD with chromosome issues and I am in various support groups for genetic disorders - this is just stuff I have picked up whilst reading posts in these groups).

If your DD is delayed and has physical markers, have you ever discussed it with your GP? With blood tests it is easy to rule out/diagnose. did nobody ever look into single hand fold. I remember that the doctors checked them after the birth.

You seem to be concerned. I would follow it up. nobody can tell you on here. You will want to know for sure for yourself and also for your DD.

Flanks Tue 22-Dec-15 19:40:45

Nothing to lose by asking your GP.

If you are worried about being silly I wouldn't, they will have way dafter and less sensible questions every day! probably ranging from 'is my foot bigger than the other, I can't tell' to 'wherever I poke hurts' when they have a broken finger...

hazeyjane Tue 22-Dec-15 19:42:49

Downs Syndrome can go undetected at birth - usually when it is in a mosaic form (ie only some cells are affected by the trisomy).

The single palmar crease can be more common in people with Downs syndrome, but it is also a feature in people without the syndrome (Tony Blair has one, as does Robert De Niro)

Has she any other things which could be associated, or cause for concern - was/is she floppier than other babies? Any health concerns? Difficulties feeding?

If you have concerns about this, or your dd's development in general (although 16 months is average for starting to walk) then ask you gp for a referral to a developmental paediatrician.

chocadd1ct Tue 22-Dec-15 19:51:33

OP, I also would not worry too much about the lack of words but rather about the lack of understanding. may be worth asking for a hearing test as a first step.

zzzzz Wed 23-Dec-15 08:38:34

On its own Palmer crease and eye folds are not an issue. However linked with delay/sluggish development it is worth flagging with GP.
I was told with my non-DS dd that the single line in families that DON'T carry it can be indicative of prenatal developmental difference. In our case dd has epilepsy (following illness so perhaps a weakness rather than intrinsic) but is otherwise able.

mamapants Wed 23-Dec-15 13:15:20

No choc have not discussed anything with gp. Have only noticed the single crease last month, its only on one hand. And only noticed the eye fold yesterday although had noticed the eye shape, as someone had pointed it out saying a relative also had 'oriental' eyes.
I spoke to health visitor about being slow to crawl but then she started crawling and knew various people who were similarly late crawlers so was no follow up to that.
She always fed well and eats well. Also tall for her age.
I vary between thinking there is absolutely nothing wring and worrying that I'm ignoring a problem.
Might try and see health visitor after Xmas or something.

chocadd1ct Wed 23-Dec-15 19:16:19

OP, it is playing on your mind. With the physical markers (which may mean nothing) and the delayed speech you noticed, I would probably see the GP. I haven't had a good HV experience but you noticed the hand fold and eye fold. I found that doctors are way more knowledgable about such things than HV.

Join the discussion

Registering is free, easy, and means you can join in the discussion, watch threads, get discounts, win prizes and lots more.

Register now »

Already registered? Log in with: