2 year old potential ASD or neurotypical?

[MammaKel]

Hi all,

I feel really silly asking this but I was wondering if my 2 year old is showing ASD signs as HV was concerned.

My 3 year old was dignosed with Autism recently however he has different issues and his behaviours are completely different to his sisters so I'm not sure.

I don't want to write war and peace on it so I'll try and shorten my concerns.

She was extremely delayed, she couldn't do anything up until she was 1 year old but now at 2, she can walk, sit up, feed herself etc

Traits I've noticed include:-
Limited eye contact
Not responding to name
Hand flapping
Rocking back and forwards
Lines toys up
Limited speech, she says mummy and daddy but her speech is mostly repeating part of nursery rhymes.
Doesn't smile
Doesn't look when somethings pointed out to her.
Doesn't point
Walks around in circles and with her eyes closed
Shakes her head a lot and holds lights up to her eyes.

She gets extremely upset, absolutely inconsolable and will hurt herself - this can go on for up to 45 minutes (this can happen due to transitional or routine changes or for no reason at all).

• She's still in nappies (which I think is normal for 2) but she can get quite distressed during nappy changing time and it takes longer to change her, she'll scream, kick out, cry and I'd say a nappy change can take 10-20 minutes and then longer if we need to do a full outfit change.

-She can feed herself and eats what we give her which is great but she'll also eat non food especially paper and fabric (I have to race her to get the post so she doesnt eat it!) She has to be constantly supervised to make sure she doesn't ingest anything she shouldn't.

• No sense of danger. She will run full force into the doors, jump off the sofa, she also hurts herself, bolts in public, approaches strangers to be picked up etc so she needs constant supervision at home and outside (we restrain her outside with reins or pram which again i think is normal).

• She has very limited speech so she can't express her needs really, she doesn't point or gesture either.

She can't help with dressing herself, she's like a baby really and needs everything doing for her in terms of that but she can undress herself and will do so all the time but I think this is normal.

She doesn't go to bed before midnight no matter if she naps or not during the day and when she does sleep she'll wake up every 45 minutes to 1.5 hours absolutely possessed, she'll arch her back, throw herself around, make herself sick with how much she's screaming and it takes a long time to settle her back to sleep - she must only get around 3-5 hours a night if that! (I know two year olds can wake in the night though so I think that's normal too)

Do you think these are enough to be concerned about or will she grow out of them?

(Sorry was longer than intended)

Some of the things you’ve put down on your list that your daughter does is what my daughter did too, she’s 4 now and still does a lot of the things you’ve mentioned. We are still waiting to be seen to be assessed. Ask your health visitor to make a referral for you.

I'd say that with her sibling being ASD and the behaviours you describe there is a chance your dd might be neurodivergent.

I'd be concerned about the Pica.

The rest of it, well it's likely as she has an autistic sibling.It's also likely you, DH and other relatives are too - not much you can do at this stage though but love and parent the child you have. Next time you see the HV go to the GP or see a pediatrician take that list with you and flag it.

Entirely possible she's ND. What's less important than a diagnosis is (as you're probably aware) establishing early intervention support. Has she had her hearing tested and been referred to speech and language?

I agree. She reads very much like my children, the eldest presents more like what used to be called Asperger’s (still autistic but without global delays which it reads like your daughter may have). Of three children, two are diagnosed with ASD (and ADHD) and the youngest is on a waiting list for possible diagnosis. I’d ask for a developmental evaluation and referral to a paediatric specialist. Best to get the ball rolling sooner rather than later for the best support whatever the eventual outcome. Support is ultimately more important than a diagnosis regardless.

Sounds like ASD to me. It is very much a spectrum and different kids will show different things to others. I would ask that the HV puts them forward for assessment especially given ASD runs in families to varying extents.

I agree and I think there are a number of traits that stand out.

My two children are both autistic and both of them so very different. Different in what they could do physically, different in temperament, different in engagement.

when I think back to them as babies it’s hard to believe they both ended up with the same diagnosis!

but the common themes were communication difficulties (presented differently) disordered sleep (tired me!) and both very loveable.

She was referred to the community paediatrician and physio when she was one due to the delay and was discharged when she caught up.

I took her to to doctors in August woth concerns as the specialist HV who was assessing my son mentioned her so they referred her to community paediatrics which has been accepted.

HV came last week and showed concerns and has referred her to portage, community paediatrics and speech and language.

Speech and language has come back and rejected her as she doesn't meet her criteria (when my son was referred he was completely non verbal)

I'll have a look into pica.

Has she had a hearing test? My nephew spent years under speech and language before anyone realised he actually had hearing loss - no idea how!

She hasn't had a hearing test but I'll ask for one.

I was surprised really as that's the first thing they did with my son so thought they would this time around too but it's not been mentioned.

Yeah it does seem strange, but it sounds like you've got everything covered and doing a great job at advocating for both of your children

This doesn't sound like typical development. It could be ASD or something else, but either way follow up/chase up everyone involved in her care. Get her the support she needs as soon as you can (and that's not easy!).

Can I just say thank you everyone for being so kind and helpful.

I remember posting somewhere (not mumsnet) about my son and was completely ripped apart, I ended up in tears. Even professionals wasn't taking me seriously and it turned out my son had a rare genetic condition and has been dignosed with Autism so I was right to be concerned, he still can't walk at nearly 4.

I'll keep doing what I can for them both and like PP mentioned its not about the dignosis, the early intervention is much more important.

Is the rare genetic condition an inherited condition,?
Has your daughter been tested for it?

@xx2boys Yes, we found out their dad has it but daughter was tested for it and other genetic conditions and it came back that she doesn't have it.

Yes definitely a lot of red flags there. It’s a daunting time isn’t it getting people to listen. We were “lucky” as I knew something was different at around 14 months and the HV agreed so my son was diagnosed after a very thorough assessment process before he was 3.

I agree with PPs that it sounds worth investigating and like you're doing a great job. In case it's helpful, you could look at the app ASDetect. It was designed by autism researchers in Australia to help identify children who might be autistic and could benefit from early intervention. It has a series of questions accompanied by video examples, with different questions for each age. We found it super helpful and it might also help with further conversations with doctors/health professionals etc. Wishing you the best of luck with it all.

Does your child have a deletion on chromosome 2p16.3. it is quite rare but all three of my children have it and all 3 have autism. Has your daughter been tested. also seems to be referred to as nrxn1.

@dnadnasurprise My son has 16p11.2 microdeletion - it does have its links to autism and adhd.

My daughter doesn't have any genetic conditions (in that sense) we got her tested when she was showing the delay but she came back clear however my mum is autistic (diganosed later on in life) and my husbands brother was dignosed with asperges (not sure if he had the deletion but my husband does) but it's definitely something that runs in both families.

There are loads of different deletions and duplications ,a lot are linked to autism and development delay my son has 16p13.11 microdeletion
When they tested your daughter did they do the full microarray test or just look for your sons deletion ,?
If you are not already I would advise you to join UNIQUE.its the charity that supports families affected by rare chromosome disorder, s

@xx2boys They said they did a full check and nothing came back and we need to speak to a GP about why she had such a delay as it needs further investigation.

We joined unique when we found out about DS, it really is helpful.

I would say she ticks pretty much every box there is for ASD, there would be no doubt in my mind - not to mention that it runs through both families. I have one with ASD and neurodiversity runs through my family too.

Has your HV recommended next steps for you? Please keep the list of things you have noted here as they will be relevant even if she grows out of some of them (as there may be a long wait for assessment). I would definitely get the ball rolling as soon as possible.

Ah bless you, OP. It does sound like quite a few boxes ticked here and some quite 'classic' signs that I would definitely want to get investigated.

I'd definitely push for more help from HV. It sounds like she's already on the case perhaps, if she was the one who raised concerns.

Do you do much with other kids of a similar age? I think that can be useful at seeing what the kind of typical range is of kids in that bracket and it does often highlight the areas of concern. A friend first became aware of the potential for ASD in her daughter after spending time with us and a couple of other friends with kids the same age. If you don't have much experience of kids and typical development, it can be hard to know.

I think she sounds like she has asd. Lots of the things you described related to my dd when she was 2 (she's 5 now)

Early diagnosis is so important and it seems like you're taking the right steps 🙂 x