That is a tricky one, I think it would be quite unusual for Down's to be missed early on because of all the appointments and classical characteristics already described by balhammummy. Sometimes however a baby is not feeding well, is floppy or has other concerns and a genetic test is sent in the first instance to look for Down's and other disorders. I think it takes a few days.

Why are you concerned, is it just the facial features, or are there other concerns such as developmental delay?
If the parents are worried about their development, then maybe suggest a chat with the GP? If they have no concerns, then unless you have real concerns and are a tough cookie, I would leave well alone.

If the child is well, has had check ups for basic health and developing normally, does it matter?

I suppose as a last resort you could ask to speak to their GP, who may refuse, but may also make a note on their system, so if they are seen later...

Good luck!

Down syndrome can be diagnosed with a blood test but as balham mummy5 said usually it is diagnosed at birth or in the new few days. I have heard of families where the diagnosis took weeks but I think it is rare for a child not to be diagnosed at 1 year, although not impossible, if a child has missed the early checks. In my experience health visitors don't always chase up families who do not attend health checks.

There is also Mosaic Down Syndrome where the condition is often less severe and the child can look less like a typical child with DS, and again a blood test can usually diagnose this.

In a way the diagnosis is not really that important, what is, is how the child is supported. Most children with DS will have some degree of learning difficulty, they will usually meet developmental milestones later than their normally developing peers and will require a degree of support from physiotherapists, speech and language therapist etc... Lots of areas have portage services which provide pre-school educational support for children with DS, and this support can start before a child is 1 year old.

Does the child have developmental delays? sometimes this might be the way to get the parents to start thinking about how best to support the child and not to worry if it is DS or something else.

The Down Syndrome Educational Trust and the Down Syndrome Association both have execellent websites with lots of advice and support if you need them.

I hope this helps.

I would tread really carefully here. It does seem strange that it would have been missed at all the many appointments he must have had.

When you say the parents are in denial does this mean that someone has already mentioned this to them?

They are lucky to have a friend like you who is obviously looking out for them, but I would be tempted to leave it and if he does have the condition let it be diagnosed, otherwise it could really affect your friendship if he doesn't have it.

xxx

I am no expert, but know a child who has downs syndrome. I would have thought it would be unusual for a child to get to 1 without a doctor or health visitor picking it up. Assuming the baby was born in a hospital he will have been seen by a paediatrician before being discharged. I think they look for certain characteristics common to babies with downs, and if they are concerned the baby is given a blood test. Also, the baby should have had a check by a doctor at 8 weeks, and a check by a health visitor between 9 and 12 months - both of whom should have picked it up. You've probably already searched for these, but these are common characteristics of a child with downs syndrome:
• A flat facial profile, flat nasal bridge and small nose
• Almond shaped eyes with epicanthal folds
• A small mouth with a slightly enlarged tongue
• A big space between the first and second toe
• Small broad hands with short fingers and a little finger that curves inwards.
• A single palmar crease on their hand
• Reduced muscle tone (hypotonia) which results in floppiness
You could try calling the Downs Sydrome Association information line (0845 230 0372) to discuss it with them - I'm sure they would be able to give you some advice.

Hello.

I hope the NV community can help.
I cant go into to much detail on here so sorry in advance..

1 yr old boy, looks like he has down syndrome, parents in denial.
How is down syndrome diagnosed and how long does this take?
Are there any other special need that has the charistic look of down syndrome but is possibly something else.

All information, links, ideas to approach the parents, suggestions all very welcome.
Many thanks in advance