Causes of walking/speech delay

[PurpleThistles84]

Other than autism?

My son is now two and a half years old, he can't walk (or crawl, bumshuffle, roll) and he can't talk (non verbal, no babbling).

He has had genetic testing which came back all normal. In all other areas except gross motor/speech he is performing around that of a four to five year old.

I thought I noticed a slight curve of his spine and his paediatrician felt it was worth referring him for an MRI, waiting for that. He was diagnosed with a pseudo squint at 10 months old but just last month they decided he does have a squint in both eyes though very slight in one. He was also diagnosed with blepharitis in both eyes. He has also started Movicol for constipation that has been present since birth. He uses a prone standing frame for 30-45 mins a day and we are learning Makaton.

I know autism varies and I have two diagnosed autistic children already but everything in me feels this isn't autism or at least not autism on its own and I worry that something may be missed if they go for the autism diagnosis without checking everything first.

I just really want to know what is behind my son's inability to walk or talk and wondered if anyone has a child like my boy and knows why? Thanks from this worried, tired mama.

He may be a SWAN. Which means he may never be diagnosed. Full genomic sequencing may be helpful. Have you been where'd to a geneticist?

My son never crawled and just suddenly went from no movement to walking at 3. He was diagnosed with hyper mobility although we went through all the tests first. At 5 now he has completely caught up with gross motor skills. I absolutely know what a stressful time it is; thinking of you.

My youngest started walking at 2 1/2 - they are diagnosed autistic but also EDS they went from nothing to walking in about a week. Eldest was late too and didn't speak until almost 4 but caught up in no time. Have you seen a physio or rheum to look into other causes? Rheum diagnosed all of mine quite young with eds and physio offered help with exercises before they could walk.

We have a paediatrician, speech therapist, occupational therapist and physiotherapist. He is hypermobile, the paediatrician said this though, the physiotherapist did not. He had genetic testing done through a referral from the paediatrician and they came back clear.

I have posted his birth before which was atrocious for him, with a double cord around his neck so tight it had caused bruising and they cut it before he was fully born, as well as shoulder dystocia and a failed ventouse attempt. I had excess amniotic fluid as well and had been sent to the hospital at 36 weeks when a routine midwife appointment picked up decels.

It just feels like there is no answers and maybe answers wouldn't actually help. I have five children, the first four have a different father and I know my husband thinks it's something from him that has caused our son to be delayed but I reassure him all the time. Answers would help him, I'm sure.

Do you know if the genetic testing was whole genome sequencing? (Or exome sequencing?). If it was a more limited type of testing it would be worth requesting whole genome sequencing.
Or, if that is what was done already but the result was given to you by a non-genetics professional, do ask for the 'all clear' you were given to be confirmed by a clinical geneticist.

All clear from a genetics test is probably from just the 'main' know causes. While genomic or exomic (as oo said) sequencing may provide more info. Ask to be referred to a geneticist.
Have they mentioned any HIE or cerebral palsy from his birth trauma?

My son was dyspraxic with a language disorder. Sometimes they just magically catch up and it seems that's more common then being a nurodivergence.

I knew it wasnt a delay by 18 months because of lots other little things.

His brother has ASD and and language disorder. It is genetic. Their sister has ASD and doesnt have a genetic reason. They are nothing at all like each other. You couldnt take my 9 year old and 7 year old and say they have the same diagnosis but they do.

Look up dyspraxia but I might not be that

No mention of cerebral palsy or HIE, except by me. I have brought cerebral palsy up a few times but they don't seem to think that's an option. I do vaguely remember the midwife telling me his cord blood was tested at birth and it didn't show a lack of oxygen. I personally suspect cerebral palsy but obviously I'm not a professional of any kind, I guess it's just that it seems to most fit his individual difficulties. The paediatrician is going to discuss him with neurology and see what they say.

My son has normal movement but did not develop speech. A contributing factor turns out to be cerebral folate deficiency caused by folate receptor autoimmune antibodies. We have been supplementing with folinate for six months and seen a dramatic improvement in speech.

I had to seek out a private doctor and send a sample to America to find out , but the NHS now finds his treatment. You might find your NHS doctor does not know about it. It is much more known about in the US.

If you google asd/folinate language development you can find the research papers.

I have his labour notes and it shows that it took 1-2 minutes for his first breath, 10 inflation breaths and 80l of oxygen, apgar scores were 6,7 and 9. He was stiff (high tone) for quite a while after his birth in the hospital. His cord gas results are there and none seem to be within the acceptable suggested ranges but they said it was fine so it probably was.

I have a telephone appointment with his paediatrician at the end of the month so I will ask about a referral for genetics then. Thanks everyone for replying and just letting me offload some of my worries, it means a lot.

Sorry to resurrect a very old post but I wanted to update incase this is of use to someone in the future. I was right that it wasn't just autism with my son, he was diagnosed with KBG Syndrome a few days ago after full genetic sequencing. Neither his father or I have it so it just happened. 1 in 38 million chance. I'm glad I trusted myself and kept fighting for answers.

Sorry to hear this OP but it's helpful to have a 'label' you can pin symptoms against now. Well done for pushing x