Anyone know much about genetics / ASD family (also posted in chat)

[Peachy]

Hi

We were called in to see Paediatrician last week following a karyotype for ds4, who is 4. They have found a balanced partial inversio0n of the short arm on chromosome 14.

Now they said usually that's not worth a concern except for the family history. paed didn;t know much but geneticist will call us, could take months though.

DS4 has 3 siblings. DS1 has a diagnosis of Asperger's and attends a SN school. DS2 has suspected add and dyspraxia although has never been seen due to lots of silly factors. DS3 has autism and attends a special school. I am being assessed for Asperger's 9and I know I have it, am close to end of MA in Autism and quite aware!). DH has some history of depression. Mum lost 4 babies from stillbirth at 28 weeks. Sister and Nan have a genetic thyroid issue (Nan died from it as it affected her heart). two cousins have had leukaemia (they each ahd a parent who was a sibling of my Mum).

DS4 has a speech delay but has been discharged by SLT for the meantime as he would not cooperate, he is like that with strangers but I was told 'he doesn't have autism, he is just mollycoddled'. I don't have time to mollycoddle anyone! We have been asked to apply for a statement by school for September as he is so passive in class. he has lots of rituals as one would suspect; diagnosis has been slowed to rule out copying his siblings, I agree with that although equally I know that in fact he presents very differently from either of them.

They are going to call us in to take tests from DH, me and his ASD sibs but can;t fund them from ds2, which is a shame I think.

I will cross post this in SN as well but anything anyone can tell me- please? Thank you.

Genetic links are all very interesting but I've nothing that can help you!

I worked with a child with SLD and consultant was convinced it was genetic but nothing matched. They were told they'd keep it on file to see of anything comes up in the future, so if there's nothing else this may happen.

sorry I know nothing RE genetics considering my DS lol, however I do think it's a shame they won't test DS2, will it cost much? could the GP not fund? But it's obvious it won't all be plain sailing........knowing the family

DD#1 (ASD, ADP and dyspraxia) has recently been diagnosed with a partial deletion of chromosome 16, we are awaiting a genetics appointment now. DH and I need to be tested to see if the deletion has come from us or is a new spontaneous change. If one of us has it then I would imagine we should get DD#1s siblings tested, but if we are negative then there is a very good chance they are not affected. With regard to your DS2 being tested I would have thought that if your or your DH are affected then you have a good reason for him to be tested then and could probably push for it from there as it will potentially affect his future and any children he may have.

I'm sure you have googled but lots of info for us online and for our particular issue a very active facebook group has proved helpful.

Ds and dd's chromosomes are apparently normal in so far as they are normal based on today's understanding however paed believes that chromosome 15 in our family has some abnormality based on our children 2 with autism, 1 with dyspraxia, 1 exceptionally gifted and 1 NT. The only cousin on dh's side has AS/dyspraxia but the many cousins on my side have no dx or any obvious traits.He believes with advances in genetic understanding the abnormality will be identified in the next twenty years. He has also recommended genetic counselling for our older children if they decide they want children.

It could be linked to your mum losing babies to stillbirth - if there's a balanced inversion it as if it leaves a weak area and there's a high probability of some babies inheriting an unbalanced inversion which can be far more serious - a friend has been through a series of miscarriages because of this. They also explained to her that at the weak area on the chromosome where it has broken off and rejoined there can be small areas of genes that are damaged and these are usually insignificant for those with balanced inversions (her DH and DS have this and are not affected), but that in some families it can turn out to be an area that codes for something more significant.

Hi,

i'm new here and haven't posted anything before but I just wanted to reply to this thread as it has caused a light bulb moment for us.

To cut a long story short our DD7 has a balanced translocation of chromosome 2 and 14 she inherited from her father. When we had genetic counselling following the amnio test that detected the translocation we were advised she would have no health problems as a result of the translocation until she tried to start her own family when she may have problems. My husband has no health issues at all.

DD is now 7 and has a formal diagnosis of DCD and working diagnoses of Dyslexia, ADHD and anxiety which are in various stages of diagnosis. This summer we have had specialists raising concerns about ASD also.

When I saw this thread and googled the translocation it would appear science has moved on in the last 8 years and there could indeed be damage to the genes at the point of the translocation and therefore a link to DD's problems.

We have now made an appointment to get a GP referral for further genetic testing and our SALT is trying to speed up a referral for the ASD and ADHD diagnoses.

Thank you to NoCertainelyNot for the information!

The genetics people don't like testing apparently health dc for other peoples benefits, or even for their own 'future' needs, in case it causes then distress and/or life insurance issues. I don't think it's an NHS costs restriction, more likely a minor ethical dilemma.

the theory is, if they want the information, let them consent to testing later when they're old enough to think for themselves.

But if the dc has an accepted health issue, the assumption is that knowing more about causation could actually help guide treatment. Or at least mean a bit more science/ bit less guesswork for medical predictions.

Thanks all.

I guess with my reasrcher hat on, I'd love to know if there is soemthing that I share with ds 1 / 3 / 4 that DH and ds2 do not. I get teh consent issue totally though. There seems to be so much anomally in both sides of my family- throid etc in dads, but people who were never dx'd but have obvious traits or full blown ASD- Uncle, Grandad (needed a lot of care from nan), Mum admits AS traits, cousin, Aunt........ and OCD in MIL, along with a mysterious gap- her Mum ran away and anandoned her and her sister, FIL is adopted.

It's ahrd to switch between parent and researcher hats I guess, but I'd love to know what's out there for my family from both perspectives.

Bloss hugs

If you want info / support about teh ASD holler as that's my area.

I have dyspraxia and hypermobility, DH has aspergers and hypermobility. All DS's (aged 6, 4 and 1) have hypermobility, DS2 more severely than the other 2. DS1 was tested for aspergers aged 4. Pead thought he had it and then after assessment changed her mind. DS2, DS3 and DH had the CGH microarray test done. DS2's was normal, DS3's was a variation on normal and DH's got lost in the system. FIL has AS and hypermobility, DH's great aunt has hypermobility. My cousin has dyspraxia. I've had 2 miscarriages. We are about to start a genetic trial called DDD which looks at the whole families chromasones in more detail than the CGH array. I'm not really sure what you're asking (not enough sleep last night) but I'll happily share my knowledge if it helps.