Toddler sent for genetic testing for large head and frontal bossing - handhold please

[workedupmum]

I'm really quite worried and getting myself worked up. We took my son to a paediatrician appointment last week as he had been referred by our health visitor for suspected autism. After a lengthy assessment she diagnosed him with autism - but also commented on how large my son's head is, and how his slightly far apart.

I knew he had a big head but it had always measured big even throughout my scans when pregnant, and nothing had ever been picked up. No health visitor had ever commented on it before so I assumed he just had a big head.

She measured it and it was on the 98% centile. Due to his autism and developmental delay (no words yet at 2.5 years old), trouble with feeding and she said he has a delay in all areas bar gross motor skills.

That's when she mentioned the abnormalities as she said the doctors would need this information when testing. I didn't get too worried about it as she didn't go any further than this, but today I have received her report which describes my son as having "slight hypertelorism and mild frontal bossing, with his head circumference measuring above the 98.6th centile".

They said they are sending him for blood tests, including a genetic test called a CHG array to test for any conditions.

I hadn't Googled it up until now because I didn't want to scare myself but it got the better of me and of course I've scared myself. I am so worried my baby has a health condition and what it might mean if he does.

We've also already been referred for Portage and Speech & Language therapy so it's something else to add to the list of concerns and I'm really very scared.

Has anyone been through similar/knows any more about this and what it could mean? When I looked on VeryWell Mind it says frontal bossing is almost always caused by an underlying condition, especially with delays.

Thank you, just need a hand hold right now, blood tests on Wednesday as they wanted them done quite quickly and this is the soonest the department could do.

Sorry it should say she commented on how his *eyes are slightly far apart

No answers but just wanted to send you a hug. I hope you get some answers very soon.

Thank you so much @Mollyplop999

Those features common to many syndromes
The cgh array might identify one
You already know he has delays
The test could tell you what is underlying
It will not chsnfe what you already know but give more info
And link you to others with same condition which is helpful
Unless he already has health issues no need to think it implies health issues
If you do get answer contact unique rarechromo.org/

My nephew has severe autism (nonverbal) and was referred for a very large head (98centile). His report decided that he just came from a family of very large heads... I don't say that to be flippant, but to say you never know what they are going to say so don't go down a Google blackhole. It might be something or it might be nothing. Until you speak to a specialist after the testing there is nothing you can do about it. And your son is the same little boy today as he will be after that meeting. Thinking of you at this difficult time.

My son is an adult now. He has severe autism and has always had a big head. Stood next to his dad who is the same height his head is much much bigger. No one has ever commented in it though. A health visitor once told us it’s common in children with autism, although that was 20 years ago and I’ve not seen it mentioned since.

Oh OP… please please don’t Google! My child has hydrocephalus, happened at birth due to a minor stroke. Their head was enormous, but now that they’ve had treatment (vp shunt) it is basically back on the percentile chart. Doctors gave us the bleakest outcomes because they always do, but a few years on and you would never know what they’d been through, apart from the impressive scars on their head! Remember, even if they do find something, then doctors and medicine are AMAZING, there is so much help and support out there. But please… STAY OFF GOOGLE. I made myself so unwell reading everything I could about hydrocephalus and was petrified about what it could mean, but 9/10 things listed as potential disabilities that could arise haven’t, so… please protect yourself. Nothing has really changed. He is still your gorgeous, adored little boy, with or without any potential diagnosis. He will always have you and your love, and you will always be there for him. I know how scary it is going through this process, it’s a total gut punch, but there will
always be things that can be done to help. Big hugs xxx

DS had his genetic testing at birth in the midth of crisis so tbh we didn't have capacity to stress too much. Still, Google is an arse and managed to put the fear of crap into me. Def step away from it.

He has a large head, always over 100th and even at 7 we can't do round neck jumpers etc. He has some excess fluid in his skull but no pressure so they don't care. It's just a fact.

He does have underlying genetic issues and like someone else said, he's the same boy he was the day before the results. Nothing changed in that moment in hers of who he was. Only what we knew about him and that knowledge enabled us to target support.

Portage is amazing. My favourite "therapy" of them all. Speech was hard work and were due back into clinic January.

Knowledge is power OP.

My eldest was on the 98% for a large head- no autism. Dr said at 6 weeks they thought he had hydrocephalus. He is neurotypical.

My youngest was on 75% and has severe autism and SLD and epilepsy.

We went through portage etc I totally get how all of the 'interventions' etc are scary. Good luck with your journey. The SEN board on here is v supportive.

Hi op I couldn’t read and run. This happened to my Db’s dd and in the end it was a chromosome issue. It has been really helpful to know as it means certain related potential health issues can be kept an eye out for.

I know how incredibly stressful this time is. I have my own ds with asd, so I do get it. Contact a family the charity are amazing and they have a support line. You can book a one to one listening ear call for support.

My youngest had genetic testing at GOH at 12 months due to an abnormal head shape including frontal bossing. He was also behind on language development, and had a few other issues that weren't a big concern on their own but together with the slow language development snd head shape could have been indicative of a problem (umbilical hernia, tongue tie, floppy ears, curly toes). He was fine, just had an odd shaped head, and grew out of all the other issues.

My sons had developmental delays. They was sent for a mirco array. Something dis come up, but not a syndrome, a unique mirco duplication.

In reality I shoulders have been shocked, but I was. I had no genetic councilling. I thought it wasn't needed as I'm a biology graduate but tbh it was even offered.

For me it's mixed feelings. Science can detect an abnormally which research hasn't caught up with the technology to find yet.

It potentially has massive ethical implications if my sons want kids.

We then went into a whole genome research study which has brought up even more things that we can't be told about until the research is peer reviewed. It's life changing and irelavant all at once.

Ask for genetic councilling if you can get it.

But most of all if its genetics it was always there, it always will be. Knowing or not knowing changes nothing in that regard.

I thought every day had slammed shut on my sons future that day, but he kicked them all open over the years.

Look up unique, they might have info on how the testing works

My son doesnt have a large head he had micro array testing at three because ofcsevere autism and learning disabilities and they found a chromosome micro deletion, if they find any chromosome abnormalities @Uniquerare chromosome disorder is a good place to get advice and support

Thank you for sharing your advice and experiences it is massively appreciated. Of course he is still my son and I’ll love him and adore him no matter what. I’m just really scared right now, and have this gut feeling that there is something going on, and am preparing myself for news after the testing. I pray that there is nothing but I just have this gut feeling.

Just popped on to say both my boys had 98th percentile plus head sizes. As far as I know, they simply have big heads (though my oldest, now 4, may have autism- he does stim a lot). Google is awful as it preys on your worst fears. If you Google ANY symptom it will tell you the worst case scenario. Do try your absolute best to distract yourself until the you know more. You can't change the outcome of the tests so do your best to keep away from Google.

If they find something ,the only thing that will change is it may give you an underlying reason for your sons delays ,i scared myself to death in the early days, my son still has complex disabilities, but thankfully he's totally healthy and happy.

My dd was referred for genetic and chromosomal testing (non verbal at almost 3 when we were referred) she is autistic but that's it, the tests came back clear. Specifically they were looking for Retts I was told due to markers. She learned to talk at 4 and is currently at university- not plain sailing but try to stay positive

Not sure how useful this is but my son had a huge head as a baby & toddler. He looked quite noticeable it was like a bowling ball. He has quite a sticky out forehead too.the gp measured it a few times to keep a eye on it.

As he grew he just sort of grew into it and looks quite proportionate now. His head is still on the big side but not so excessively.

My ds has autism and global developmental delay, he also has always had a large head. His paediatrician was convinced he had something else going on but he had genetic bloods done and they all came back normal.

Ps he has no issues at all and is a bright neurotypical school child.

I think it’s scaring me because he has lots of delays and behavioural problems - he can’t talk, he injures himself when frustrated by head butting the doors, walls and floor, punches himself in the head and pushes in his ears. He is very restricted in what he eats and food has become a sensory nightmare, he has full blown inconsolable meltdowns, he has no sense of danger and will just run off anywhere, he has little understanding or communication and doesn’t mimic or point or copy. He’s very delayed and we’re trying our absolute best and getting all of the support we need but with all the above I have this gut feeling that there is something more going on. I know we can’t change the outcome but I’m hoping it’s nothing serious or life-altering.

I can't tell you what the future holds my son was similar at that age and has quite complex disabilities, but many children who were similar will have much less needs, he's still very young
I will say whatever happens you learn to accept it ,my boy is a wonderful, cheeky boy who makes us laugh every day
Maybejoin groups and try and meet other parents with children with similar needs ?
This helped me enormously .

My little one who’s just turned two is very delayed. We suspect hes autistic. He couldn’t sit up unaided at the age of 1 so was referred to paediatrician. She commented on his head size measuring on 98th centile, frontal bossing. We were referred for genetic testing and to muscular neurologist. Bloods all fine and neurologist stated he believes his motor skills delays and communication issue are down to him being autistic. Yes he got a big head but looking back at his records he’s all measured bigger. My daughter who’s 4 is awaiting an autism assessment so he believes my son will now go down similar pathway like her for an assessment.

My son did after he was diagnosed with autism and global development delay. He has a micro duplication of a chromosome. They don't know what is affected by this, but it turns out I have it too. As far as they can tell, it's fairly unique to us.
He also has SETD1B, and a large head is one of the characteristics of this amongst other things. But I also have this, and have none of the characteristics. His twin will be tested in due course. He is on the pathway to an autism diagnosis.
My son is now 8 and the GDD has been reclassified as a learning disability as it is permanent and severe.

Everything you mentioned here is so similar to my little boy. He’s very delayed with his gross motor skills but loves to rock and head butt everything he comes into contact with. The neurologist commented he believes he will eventually walk but when he does I’ll have to have my eyes on him 24/7 as the behaviours he’s displaying just now are quite dangerous. He doesn’t speak at all and really isn’t interested in mixing with anyone but he happy in his own wee world. I watch him smile and laugh at the most random stuff and he could sit spinning wheels all day with no cares for anything else.