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.

Totally standard procedure for developmental delay/and or asd diagnosis in our part of the nhs. Try not to worry they are just covering all the bases.

Thats the thing even if something is found there is no way of telling how it will affect someone I have a friend both her and her partner have different chromosome disorder, s neither of them appear to be affected ,but two of their children have in herited both and both have complex disabilities
My child has 16p13.11 microdeletion he has very complex issues, its de novo with him but there'ar plenty of children and adults with the same or similar disorders who have very mild or no apparent disabilities, unfortunately only time will tell how they can affect the individual.

hi OP

Please have a look at the Headlines website - Headlines is a fantastic charity to support families with kids who have craniofacial conditions such as craniosynostosis and rare genetic syndromes like Crouzons & Pfeiffer, etc. They have a helpline and they would be great people to handhold and explain what is going on.

www.headlines.org.uk

My son had severe frontal bossing, 99.9% centile head plus developmental delay, when he was a baby. Turned out it was not genetic, it was non syndromic craniosynostosis (skull fusing) which could be surgically treated. In some
kids the condition can cause raised pressure in their skulls (known as ICP) which in turn can cause pain and behaviours issues.

We did portage and all that stuff too and I found it very helpful not least because you meet loads of other parents who are going through tests and hospital visits and understand what it is like. It can be a bit difficult if your other friends all seem to have kids with no issues.

It might be worth looking up SWAN Uk and join the group on FB for support. It's a charity which supports families whose child as a 'syndrome without a name', in other words a variety of symptoms with no unifying label. They were such an incredible rock for me in the early days; it really helps with the feelings of isolation when coming to terms with what's happening, to know you're not alone.

My twins both have large heads (>99 percentile on the charts). One twin had frontal bossing, but over time the bossing bulge went down. Their heads were tested, and results came back normal.
Now they look in proportion (at 2.5).

It’s standard procedure to test for underlying conditions when looking at ASD and developmental delays. Last year I was where you are, I was told my DS had a big head too. I think he’s beautiful of course, but I was terrified and some days I still am. I can’t give you answers, and I can’t promise it will be easy, but I learned early on Googling all the possible outcomes won’t help your state of mind. Wait for the paediatrician to give you the results and then research if you need to x

No advice op I just wanted to send you my love and best wishes. I hope you get answers quickly. Hugs xx

Sending love to you OP. My youngest had genetic testing earlier this year and we drove ourselves mad with Google the wait for the results was so stressful so I can resonate. I hope the results are back quickly for you and you get the support your son needs x

I think when dealing with larger heads it is always worth testing for a premutation of Fragile X. Also worth looking at nutrients because it can affect some of the channels for things like high potassium uptake.