DD has a diagnosis at last

[jenk1]

we saw the paediatrician today.

He said she has Benign Infantile Hypotonia, when we asked what that meant he said its a muscular disorder that will improve with time and its genetic, but no one on either side of our families has this.

He also said that DD is showing Autistic Tendencies - in his opinion HF but that he couldnt give a definate diagnosis until she was older,

I dont really understand the first diagnosis he has given so if anyone could enlighten me id be very grateful, he has referred her for SALT and RAST tests for her allergies-YIPPEEE at long last she is being tested for her allergies!

He was very very nice and patient and took his time and played with DD even though she shook her head and waved at him to go!!

So i feel relieved in a way, its strange but i knew she was probably AS/ASD but i dont know about hypotonia though.

I'm glad you've finally got some answers.

I don't have any experience of hyptonia but I know that some MNers do. Hopefully they will be able to help.

Hypotonia is low muscle tone. My son's muscle tone is on the low side, it makes him look and feel floppy especially when he runs about. I think it is to do with the signals the brain gives to the muscles as to what amount of tension they should be held under. I know that trampolining can be helpful. This site might be useful.

thanks saker, i had a look at that website, it says that hypotonia is a condition of another disorder which in dd,s case could well be AS/ASD.

The paed said dd was too young to be diagnosed with ASD, but at what age can they?

I thought ASD could be diagnosed from 18months

My DS was dx ASD at 2 and that was after a LONG wait to see the Paed so could have been younger but he is pretty severe so quite clear cut

jenk glad you have some long awaited answers

the inlaws came round tonight and its all "oh so and so,s baby is like that, i think thats just normal" and "its not life threatening or serious is it"

I know that comments like these are meant in a careing way but they just annoy me, i had to grit my teeth and even DH said "yes but dd has had blood tests,scans,x-rays etc etc" but they still wouldnt accept the diagnosis,they kept asking questions about hypotonia and i dont know much, i read somewhere that it is linked to cerebral palsy so now my mind is racing, but i dont know, does anyone know if this is true?

also the paed said that dd didnt need a SALT and then later on in the conversation when we told him that dd has difficulty in swallowing and chewing he said right i WILL refer her to SALT, i dont know why he changed his mind like that, any suggestions anyone?

I'm pretty sure you can get hypotonia by itself although it may also be a sympton of another condition. In Ds2's case he has a lot of dyspraxic type symptons which are common to co-occur with low muscle tone.

I have found the site I was looking for earlier when I posted the other link - I think this might give you better info.

so glad you got some answers at last. am hoping for answers myself on weds.

Low muscle tone affects my Ds2's speech - it is very unclear and difficult to understand. I think this is quite common with hypotonia because the child has the same difficulties with mouth muscles that he or she has with other muscles. This can also affect swallowing and chewing, so probably when you told the paed that he thought her speech might be affected also and so she ought to have SALT. I think it's good because it will get you into the system so if she does turn out to have AS/ASD then you will have already got a head start.

tanks for the info saker, and thanks for the messages of support from everyone else

It does seem quite common for children on the autstic spectrum to be clumsy and poorly co-ordinated. As usual in this lovely spectrum you also get the opposite, like my DS and Baka's, who is VERY well co-ordinated (above his age). Ho hum! Pleased to hear that she is being tested for allergies, not sure why he can't dx ASD at this age though. At least its progress!

Hi Jenk1,
So glad you got the DX.
Dylan has Hypotonia quite severely and it affects his lower truncal down to his toes.
This is the only proper DX for him and we've known about since last january.
Dylan will be 3 soon and is making every effort to walk and he now has splints to help him although he also has pro preperception which is to do with the nerve signals so he is taking that bit longer.
Hypotonia is a low muscle tone disorder and can affect people in lots of different ways.
On the up side of things Jenk, people said it was highly likely that dylan wouldn't walk, but he is proving them all wrong but a lot of that is to do with Pro Pre.
It will take time depending on how severe but your DD will get there and when they do it is an amazing feeling to watch after all the difficulties you will have been through.
Butty.xxx

Ds1's arms are quite floppy and he still can't pedal a bike even though he is now 5. He's also clumsy. This seems to be part of his ASD rather than anything else though. Ds2 (2.8yrs) is the complete opposite. He has the balancing skills of a cat and can already do headstands and forward rolls.

i know i wondered why he wouldnt diagnose ASD.

He said that babies at 18months who are diagnosed with ASD are quite severe on the spectrum and are non-verbal, he also said i was perhaps looking for things that werent there , erm but they are there and i am AS so i have an understanding of what to look for surely,he also said "well she has maintained some eye contact with me" so what?

Why do they insist that people/babies on the spectrum cant maintain eye contact, i can and so can my DS, when i told him that i was AS he shut up then, but at the end of it said it was highly likely she would be diagnosed with ASD but not yet as its hard to diagnose at her age, so that left me feeling a little confused.

DH said reading between the lines(which is something i struggle to do) that he thought the Paed was saying - yes she is ASD but wanted to concentrate on the hypotonia at this stage so as not to bombard us with too much.

Butty, do you get any extra help for Dylan, i mean like a playgroup place to help him with his development.

Also i have got to send DD,s appeal letter in this week for the DLA, they awarded us low rate care but i think she should be at least middle, she has asthma,eczema,food allergies and especially now with this diagnosis of hypotonia, but i dont know how to write down how it affects her more than a typical 19month old.

Please could you give me any tips on what you put for Dylan i would really appreciate it

Thanks

Hi Jenk1,
Dylan gets middle rate DLA which is at the moment being reconsidered for higher rate as he is 3 on new years day but we also recieve higher rate mobility due his walking difficulties.
Dylan currently has a statement of special educational needs in place and he attends the local special schools nursery 5 afternoons a week.
When applying for the DLA you can tell them that you have a DX of Hypotonia and explain the worse scenario of how it affects her mobility etc.. and how that at 19mths old she is physically behind her milestones.
Do you know how delayed she is? if so emphasise on it.
Also, does she have any other problems regarding speech, fine/gross motor skills, self help skills, potty training etc....
Dylan is incontinent and is know where near attempting to indicate he also has severe learning difficulties but until next week i dont know the cause so for now he is classed as having severe GDD.
I would advise you to go to the local CDC if you have one to see their HV as they are aware of any play groups for children with special needs and they can also help with appointments like OT and Physio.
If you have a local special needs school phone and ask them if they have toddler groups, our local SNS have "tuneful Tots for the child and parent.
If you need any help and advise or need any more info, then feel free to cat me.
Butty.xxx

Hiya, i will be around for the next hour if you need any further advise or cat me if you want.
I am going to find dylans early physio and Ot reports to see if i can suggest any thing of use regatrding the hypotonia.
With regards to the DLA, just tell them how it is!!!!
You never know they may well listen!!!
Speak to you soon.
Butty.xxx

Hi Jenk1
Just got a dx of hypotonia for dd2 as well .she is 3years old and have been saying simnce she walked at 10months old, that there was something wrong, actually before that we had problems trying to get her to sit properly, she used to hold herself too stiftly to maintain a sitting posistion for long.

Just wanted to say hi, and maybe we can ehlp support each other as we start this journey with physio etc. DD2 will be seen again in a month and i should egt a pack of exercises to do later on this week (physio didnt have any handy at the time).

hi misdee, feel glad for you that you have a dx at last, shame its took this long, but its sad as well when our babies are dx,d with a condition isnt it?

I have been scouring the net for information on hypotonia,not found much yet.

What did your paed tell you about the long term prospects,cos our paed didnt really seem to want to get into it, i had to push him for information.

He also said that infantile hypotonia which my dd has is genetic which puzzled us because no one on either side of the family has had this condition that we know of.

My dd isnt walking yet, she has just started cruising around the furniture, she still falls over when she is sat up and has trouble with eating as she chokes a lot.

Did you say your dd walked at 10months?
Thats pretty quick, i thought my DS was quick at 11months!

We start physio on friday for dd so will let you know how we will go on, how does your dd cope with eating and is her speech affected as well as her walking?

Just got to do dd,s appeal tonight for DLA, ive got to get it in for monday, i will have more to put now since she has been dx,d, as well as eczema,asthma,and allergies.....

But its good that we will be able to support each other especially as both our girls have been dx,d together this week

paed hasnt diagnosed, physio did lol. its tends to be in this area that hne physio knows mroe than the paed. I have been shown what exercises to do with dd2, and will be getting some mor3e sheets through the posts and a follow up appointment next month/month after.

dd2 does have problems with food, mnainly gagging/choking so she doesnt eat a wide varity of food as once she chockes on something its a battle to get her to eat it again, as she assiciates the choking with that food IYSWIM. her speech isnt that great tbh, she can talk and i can undersdtand her, but not many others can. so it may be she will need some SALT later on, but for now we are goiung with the hyptonia, and hyperflexablity dx and getting moving with that. theres another thread for dd2, 'i am not paranoid....' cos i was starting to feel that way.

Firsy of all jenk at least you've got your referrals done.
dd's hypotonia is related to her Noonan Syndrome - she had physio from 6 mths, she was not overly floppy, but had poor coordination, we were advised to take her swimming every day and to do various exercises to strengthen her core stability in her stomach- even given that she still commando crawled, although she was cruising by 11 mths she never walked til she was 26 mths but that was not just down to hypotonia as wshe has have some serious sight issues too.
The good news is that dds hypotonia has reduced HUGELY she is now 3 and has some foot joint issues, some chewing probs, mostly with meat and speech delay, although that could be down to tonal probs with her hearing or Noonan Syndrome itself.
We get middle rate DLA and higher rate mobility as she cannot walk very far at all.
The swalowing and chewing is important as its the muscles that need building up for speech. I think they mostly use straw therapy for this, at least they did for us, sucking and blowing.
DD learned it at 18 mths and has since forgotten My fault really.
Good luck hope you get some decent advice - are you onto a physio as well for your dd?

Despite my posts on the other thread I wonder if horse riding would be a good idea? If so, get on the waiting list now, we waited 2 years

Yes horse riding - it is good idea, we slapped dd up on a pony at 13 mths, she's pretty good now, and not serious enough for RDA to offer her a place here though.
Surely has helped her legs and lower back/core stability.

yes, she starts her physio on friday.

Reading some of the posts on here it seems a lot of mums have waited months for a hypotonia dx, i think we got ours quick-within 4 weeks because dd was in hospital that week for seizures/convulsions, incidently the paed said that these spasms we told him about are one of the symptoms of hypotonia.

Piffle you say your dd has hypotonia related to noonan syndrome, i have read that hypotonia is usually related to another condition, paed said that dd is showing AS/ASD traits so maybe it could be related to this, is this what is the general feeling re hypotonia or am i barking up the wrong tree?

Davros, i will enquire about horse therapy thanks for the info.

Do any of the mums of kids with hypotonia get a referral for nursery as im sure my dd would benefit from a place at a SN nursery if she could get one, also-sorry to peck your heads, do i need to get social services involved for a SN nursery place or will be HV do that?

TIA everyone