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Down Syndrome Diagnosed later in life?(7 Posts)
Hi i am wondering if anyone has had the diagnosis of down syndrome missed and diagnosed later in childhood or adult hood?. My daughter is nearly 11 and I have several people saying how well she looks for having "down syndrome" etc. she has not been diagnosed with it. I don't think I had any tests in pregnancy for it. what sort of specialist consultant would we need to be asking to see or tests to be done?. any help much appreciated. thank you.
I understand where you are coming from, my son was given a high chance from the blood test and it took me year or two to be 100% convinced he had been born without it (very flat bridge of nose even now) BUT I think there's a lot more too it than a look. Does your DD have any learning difficulties, poor muscle tone, odd crease in her palm, anything else that sets her apart? Otherwise it could just be a genetic throwback to a relative from asia, Genghis Kahn was reported to have had very many children after all.
I think it is more unusual, but it is possible.
There's a type of DS called 'mosaicism' which varies a lot but can present more mildly- even adults have been diagnosed with this later in life without knowing they had it.
I would ask your GP as a starting point for a referral for a genetic service who will know the right consultant within that service.
It's not really my area but I didn't want your post to go unanswered.
That's very interesting Inthedeep, just had a very educational 5 minutes on the internet, thank you.
Thank you for all the responses. just to add some more detail, my daughter has been diagnosed with ehlers danlos syndrome, and last year with autism syndrome (asd). I have been home educating my children for 5 years and she has been home educated since the age of 5. she has no control or feeling in her bladder or bowels, on a maintenance dose of 8 sachets of movicol. without it she would be severely impacted and still can be several times a month, she has slow gut motility and was diagnosed with hypotonia as a baby. was late in all milestones and uses a wheelchair. we are not registered with the nhs apart from for emergency treatments due to a case of negligence from a nhs paediatricain when she was 2. I have been looking at mosiac down syndrome and just wondering if that could possibly be the missing part to the puzzle x
Why don't you mention it to your DD's pediatrician and ask for her to be tested??
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