anyones little one have angelmans syndrome?

[misscutandstick]

I have found another bandwagon to jump on, and wondering if im barking up completely the wrong tree

my next thought is "could it be angelmans"? The Paed hasnt tested for this, but the karyotpying wont be done until September - tho i could ask specifically for this test.

DS5 has GDD, mild hypotonia, mild hypermobility, has learning difficulties, autistic traits and is completely non-verbal. Hes 3yrs next month.

However after a grueling 20mths of signing with him, he can now sign about 20 nouns all in context. can understand about another 20 single words, but cant understand requests or being told off. Could it be Angelmans? I dont know much about it, although i have looked at the website - it only states that spoken word is unlikely, but doesnt mention signing. I was just wondering if its a possibilty?

We've been trying to get a Dx for 2yrs now...

Sorry if my post is a little brash, im useless with words, and i really dont want to hurt anyones feelings.

just to add - although he had 'absences', since cutting out dairy, hes not doing it anymore.

I haven't but used to see a family at a special needs playgroup who have a son with Angelman's.

He was non-verbal, had limited mobility (rolled and shuffled) and had epilepsy. He didn't sign as he didn't have the physical ability. He had a gorgeous cheeky smile though and liked to lick people

I have worked with peopel with Angelmann's but have nothing useful to say apart from that.I know nothing about the medical aspect of such things obviously and in any case, diagnosis of a syndrome is largely irrelevant to me as I am concerned only with the individual and how they present rather than a person as being representative of a syndrome/disorder iyswim.

Miss, I know that parents want a diagnosis but I suggest you think long and hard about what purpose a diagnosis would serve for you. Unless it makes a real difference in some way, what is the point?

Additionally it is estimated that 70% of special needs are of unknown aetiology (ie nonone knows what caused them.

Hope this has given you food for thought. You are doing the best thing for him with all your fantastic work on extending his communicative repertoire.

Hi misscutandstick. My ds is 7yo and has Angelman Syndrome. He is non-verbal, has epilepsy, walks albeit a bit ungainly! has sld, challenging behaviour etc etc. He doesnt sign, except "more", once . The receptive skills are better with AS kids than their expressive, eg they do usually actually understand the question/request but are unable to respond correctly or if they do its not usually consistent. eg I can say NO! or ask him to get his boots and he will look at me before he does it again, and he did once pass me a boot when I asked him. I do have friends whose children have some words-mumum, dad/dada, more, train. And I know of a few that can use more than one sign at a time, but tbh its quite rare if they can communicate effectively with people outside their immediate circle. There are several different "ways" of having AS-deletion, mutation, mosaiscism etc and the degree of severity depends on the karyotype. AS kids usually have a particular look and they all have similar facial characteristics, they all without fail like water, chocolate and cheese, and they are all very smily and naturally happy children. (in general). Moost also have huge sleep issues. There are a few different conditions that are similar, and equally there are a lot of kids that have your childs "symptoms" that dont have AS or any dx at all. At the end of the day the dx doesnt make that much difference as long as your child is getting the help and support they need. If you want to speak about it some more call the ASSERT helpline-I'm not doing it at the moment, its a lady called Kate who has a child with AS. 0300 999 0102. Try not to google too much, although looking at the photo's can be helpful.

Hi misscutandstick. My ds is 7yo and has Angelman Syndrome. He is non-verbal, has epilepsy, walks albeit a bit ungainly! has sld, challenging behaviour etc etc. He doesnt sign, except "more", once . The receptive skills are better with AS kids than their expressive, eg they do usually actually understand the question/request but are unable to respond correctly or if they do its not usually consistent. eg I can say NO! or ask him to get his boots and he will look at me before he does it again, and he did once pass me a boot when I asked him. I do have friends whose children have some words-mumum, dad/dada, more, train. And I know of a few that can use more than one sign at a time, but tbh its quite rare if they can communicate effectively with people outside their immediate circle. There are several different "ways" of having AS-deletion, mutation, mosaiscism etc and the degree of severity depends on the karyotype. AS kids usually have a particular look and they all have similar facial characteristics, they all without fail like water, chocolate and cheese, and they are all very smily and naturally happy children. (in general). Moost also have huge sleep issues. There are a few different conditions that are similar, and equally there are a lot of kids that have your childs "symptoms" that dont have AS or any dx at all. At the end of the day the dx doesnt make that much difference as long as your child is getting the help and support they need. If you want to speak about it some more call the ASSERT helpline-I'm not doing it at the moment, its a lady called Kate who has a child with AS. 0300 999 0102. Try not to google too much, although looking at the photo's can be helpful.

stupid computer!!!!

thanks all for replies

It was just a passing thought really - after DS4 was tested for it! which I think was a completely strange thing to test for considering that a) DS4 can chat and is quite 'verbose', b)has very good mobility (could jump with both feet before 12mths old!) c) never had seizures d) is quite a demanding child. so im really not sure why on earth his paed tested for that at all!

Moondog: why is it important to me? well, I personally think it gives good prognosis in general. It can give an indication of the sort of help that may be needed, before the issues get out of hand. If a life limiting illness was detected - i would want to know, to live life to the full, to put every ounce of energy into each precious day and not plan too much. It gives some clue as to what you're dealing with - im a person who needs a plan, some people do, some dont. but its important to me.

Many many thanks for taking the time to respond Monstermansmum - you gave a very clear description of your day-to-day life, which i very much appreciate... which is so incredibly different to ours. I personally feel i can remove this syndrome from the list of possibilities. I understand that i may never get an answer for DS5's problems... but that wont stop me from looking!

thanks again all, i very much appreciate your time. XX

My friend's dc has Angelman's syndrome, the most severe form - chromosome deletion. Her dc doesn't walk yet (but can stand and walk within a walking frame), is non-verbal, has SLD and sleep problems (doesn't need that much). However, personality wise, her dc seems pretty chilled and content!

misscutandstick

I can undestand why the quest for dx , here the GDD label actually stops accesing a lot of services eg courses,support etc , as you get a lot of well he could catch up ,#im like good if he does but we need to loook at the here and now and consider if he does not.

And can see the peer grap growing

Manny: yes DS5 is a very content and happy child too, always got a smile and a giggle, for which i am extremely grateful - after all what more could a mother ask for her child, but to be happy above everything else?

TC:yes, ds5 definately struggled with sensory overload before we restrited his diet. we too have been on the fragile X route! it too was negative. The thing is, is that he has learning difficulties (i dont consider it a disability, because that seems so long term and permanent! but i do know that its unlikely that it wont magically disappear with a Dx!) and that learning difficulties dont JUST happen - theres always a cause, whatever that cause may be.

Phoenix: thanks for the kind words. Its awful to watch and see that gap isnt it? I had the same with DS1 (ADHD) hes still really 'young', last week he was complaining he couldnt find his 'bayblades spinning tops', "and?" i hear you ask - hes almost 17yrs old, a time when most are thinking about learning to drive, getting girlfriends and jobs etc.

actually his Dx also mattered a great deal to me too. It took about 4yrs to get that, even tho he is quite clearly ADHD. It still helps today, when we have those teeth-grindingly bad days and i have to remind myself that he is not doing it on purpose and its not personal. Its easier to have more patience and understanding when you know why somebody is behaving a certain way. DS4 has SLI, and the days that he isnt coping well, and running the whole family into the ground, we ALL dredge up just that ounce more patience and compassion, because we know why.

we all love our children unconditionally, and would forgive them anything - but right in the heat of the moment, when its crucial to be able to take a breath and not get caught up, to have a reason, a Dx is invaluable. To have even a glimpse of the future, a vague prognosis, is also very important to me. I know that life does not come with guarentees and anything could happen. Its the 'lets wait and see' that drives me insane!

phoenix: "... as you get a lot of well he could catch up..." it feels like a complete fob off doesnt it? like your child is not worth more investigation , im right with you there.

With you on that too TC, sent letter yesterday starting proceedings for statement. Organised a Major - with that i get a free community paediatric nurse and occupational therapist! best bargin ive had in weeks! Also rang (off cuff) Ed Psych (bribed inclusion support for number), and shes going to put DS4 and DS5 forward in todays meeting to be assigned, which is as good as done (apparently ). Many mini-meetings with nursery teacher reveal that: funding for inclass support is in pipeline and hopefullly will be in place for september, and she will start transition work with DS5 next week.

Good developments so far this week

Very organised of you misscutandstick, you put me to shame.

that is until next week Ally, when I find out that everyones lied out their back teeth just to shut me up . When the major doesnt arrive, the funding hasnt actually been allocated, and the Ed Psych's never heard of me!

Hi misscutaandstick,
DD1 has angelmans syndrome and is a similar age. She is non verbal and right now would have limited understanding and no signs. She also has deletion - as others have said - typically the most severe. However one of her classmates also has angelmans syndrome, but UPD rather than deletion and is much higher functioning. She has excellent understanding and follows instructions well. She is walking for quite a while now. She is non verbal, but I think she does a few signs. She definitely claps hands. If you go ahead with testing I would recommend you concentrate on UPD or mutation as he sounds fairly advanced. Best of luck and let me know if I can answer any more questions