ASD genetic explanation

Hi all carers with ASD family members. My son had diagnosis of ASD. I insisted on more testing and he had whole genome sequencing. They found mutation in AHDC1 gene. The researchers in US say the syndrome has significant overlap with ASD and they think many ASD patients and those with learning difficulties remain without diagnosis. Particularly older ones

The website for the condition is below. I have always believed my sons ASD had a genetic explanation and we got one. There are only 230 patients so far diagnosed but researchers in US think there are many thousands without diagnosis, because of lack of awareness.

Symptoms so far known are:

Global developmental delay (reaching developmental milestones later than usual)
Intellectual disability (which affect a person’s ability to learn, communicate and retain information and undertake daily living activities)
Hypotonia (low muscle tone)
Respiratory difficulties, such as laryngomalacia (airway obstruction caused by floppy tissue)
Sleep apnea (pauses in breathing during sleep)
Brain changes (these are visible on an MRI scan)
Some characteristic facial features
Scoliosis (sideways curvature of the spine)
Significant overlap with autism spectrum disorders

Very interesting.

I battled for years with GOSH saying I did not believe the ASD was the final answer. WE got lucky because they were doing a genetic study for children with developmental disorders. Obviously I enrolled him straight away and they did whole genome sequencing. It still took many years before the database produced a match on his DNA mutation. we had had all the obvious tests. But apparently whole genome goes deeper into the DNA .

They have said that this was one of the first genetic disorders to be discovered by Baylor genetic lab when they started doing whole genome testing. We were incredibly lucky because the geneticist there leading the genome testing just so happened to have a family member who was presenting with difficulties. She ended up being the first patient diagnosed with XGS by the genome testing. Since then more people are getting genome testing done and we found an adult with his syndrome. His details are below:

Xia-Gibbs syndrome in adulthood: a case report with insight into the natural history of the condition - PubMed.

I dont know if genome testing is yet widely available in NHS.

I dont know fully about genetics, but my grandfather was an early post war geneticist and when my son got sick I really felt his problems were down to a physiological genetic issue. I was right. But bizarrely his condition is completely random and not inherited at all. Neither of us parents have this mutation in our DNA.

I know my comments might be controversial in ASD thread. but my view is that ASD is a symptom or feature of a physiological problem,. we got the answer to ours via the genome sequence project. Its been a bit scary because so far only 200 have been diagnosed in the world. But as i said before they think there are many others with ASD that just havent been tested yet…

sorry if I sound like a crazy evangelist! I am not going to lie the genome sequencing didnt cure my son. it reveals a whole heap of other question and I was scared about DNA testing and the ethics of it. but what it did do is allow patients to get together with the research scientists and collaborate internationally on the best strategies for treating his symptoms. They are now using this patient data in their research of the gene. With my son I have to accept the gene mutation already caused damage to his brain and spine and that cant be reversed through gene research or even stem cell. but there is hope in the future this research might one day find a cure in utero. the geneticist think maybe 10 years from now.

All I am saying to fellow ASD carers is to ask, if you can, for whole genome sequencing. Even if it doesnt immediately help your loved one it might help scientific research and you might end up meeting a whole bunch of people around the world who have same gene mutation as your loved one to give you vital international support in finding more help for your loved one. We are just a tiny group of international families who got a genetic explanation for their childs problem. My son was patient no 70 and now there are 230. just think if each ASD child was screened using the genome test there could be a whole heap more information on these patients shared and researched.

I think this is a really interesting breakthrough.
So many parents are dismissed as being fussy, or difficult when trying to find out why they have a special needs child.

So many parents are labelled as bad mothers, which does huge damage to self esteem. I was once introduced to a group of people with an incorrect Christian name, I was so depressed at the time that I didn’t even correct them!

Parents NEED a proper diagnosis.
Anything is better than diagnosing a bad mother when she is trying her hardest to help her child.

Yes been through the same. You get so depressed when they make all sorts of mistakes, but when you are trying to advocate for a vulnerable disabled child you often have to just turn the other cheek. Because ipicking a fight about them getting your name wrong is the last thing you want to do for your child. From what I can tell my sons genetic mutation is one of the firsts to have been discovered through whole exome sequence. I always said that ASD whilst being an issue was not the final answer. We got that through going through a scary DNA sequence study. He had every genetic test under the sun until GOSH suggested the whole exome sequence and now thanks to that outcome we have found 230 patients around the world. They think the WES could be applied to dementia patients too. I am not going to deny it has been a frightening ordeal. Taking the moral decision to have them do a full DNA sequence on a loved one was scary and we got little support for it as a family. When i spoke to rare disease charities they were trying to reassure me that I had done the right thing. I was terrified letting them go through that level of DNA profiling in my family. And despite the trauma I still believe it was the right thing to do. It will be interesting to see where this whole exome sequencing goes in the future. But what they are seeming to suggest is that various forms of ASD and dementia sit on the exome sequence which is a far deeper probe into the DNA than most conventional gene tests.

with my sons condition they think there are many more ASD patients without this diagnosis that should have it and they think many of them are adults and older children. It is fascinating how everything fits together ultimately. and the more we get comfortable with gene testing the better we get at treating rare disease. My son was patient number 70

The video about the girl who died in US is attached

We are starting to think the “infectious laugh” is actually a gelastic seizure