Yet another question about Angelmans I'm afraid.......

[mumgoingcrazy]

DD2 is 17 months and we are waiting for results on some blood tests she has had. Angelmans has always been at the back of my mind as she really fits the bill. A while ago I started a thread asking that as she doesn't have seizures does that mean it can't be Angelmans. Seems she could still have it. However my question is, DD2 is very vocal, she babbles non stop to herself or her big sister or anyone really and it seems she is starting to point and say words (although not clearly). I know children with Angelmans have delayed speech. Do you still think DD2 could have Angelmans?

I'm going round the bend as we have a 2 month wait for results so I'm afraid I'm coming up with all sorts of dx's for her.

We have thought in the past our DS2 may have had Angelmans (in fact a dr actually put in a letter to us that he thought he had "atypical" Angelmans)....

I thought most children with Angelmans had seizures, hand-flapped, and didn't speak (at all).

All the best, it's a terrible time, and googling for syndromes that "fit" is just dreadful (I've done it way too many times myself....I try to tell myself that if even the drs who have trained and practised for years can't dx him, we're not going to be able to do over the internet....)

Hi. MOST kids with AS do hand flap when excited, seizures usually start around (or are picked up) around 2-3 yrs old and speech is either delayed or non-existent and those that do speak do not usually have enough words for a conversation-they can have up to around 20 words or so. That said, every child is different as you know, and there will always be children who, whatever their condition, do not 'fit' the exact dx. There are several different 'ways' of having AS, and whilst most of the characteristics are the same there are slight differences-DELETIONUsually) pale skin, light hair, no speech, UNI-PARENTAL DISOMY and UBE3A MUTATION kids are sometimes higher functioning, have more verbal communication and are sometimes able to be more independant in the future. They also usually have familial hair/skin colour. Different tests are available i.e if they have AS characteristics the first test is a FISH test. If that is neg, you can then have DNA Methylation tests which pick up Mutations. There are translocations & mosaicism etc. You can also have a clinical dx even when the tests come back inconclusive but everything' points'to AS. There are also several conditions that look initially similar to AS-eg Retts and a couple of others. You can drive yourself daft dx'ing yourself! Very complicated and probably better to wait for dx from Dr tbh! Phone me if you want to talk about AS-helpline 0300 999 0102 (free)

Sorry! The sneaked in there!! Not intentional. You could have a look at here aswell. good links. Hope it clears a few things up for without scaring you. X

Also wanted to say that AS kids are the happiest kids around. Its not all doom and gloom and they bring amazing joy to everyone who knows them.

Thank you very much for this info, I agree about waiting for dx from dr, it's almost become an obsession for me and I do drive myself daft.

I don't know why Angelmans scares me so much, I think it's the future that worries more than the present.

What do all these tests involve? Are they all blood tests done at the hospital or are they a bit more invasive?

Thanks again to you both.

In most areas, now, the deletion testing and uniparental disomy testing are combined and are carried out on a blood sample. (so avoiding the need for a seperate FISH test).

I'm afraid I don't even know what a FISH test is?????

Bloods I can cope with (still not pleasant) but at least it's not a lumbar punch.

Sorry, FISH is a lab technique which is used to detect deletions - it also needs a blood sample so all I was saying was that, if you are lucky, it would only need 1 blood sample and not 2.

DD2 has had a lot of blood and urine tests recently, they are testing for genetic and chromosome disorders and I'm not sure what else. About 12 tubes of blood were taken. Is it possible that the FISH test might have been included in this lot or do they need a positive result of something else before testing for AS further?