Autism and developmental delay in our genetic makeup

Ever since my son was diagnosed with Autism and Developmental delay you can't help but wonder if it was something I did that was bad, and if the rumours about thing such as vaccinations were true.  Maybe there's something wrong with my genetic makeup, or my husband's.  Maybe

I saw the paediatrician and she recommended we do some blood tests which I was rather ambivalent about. I wasn't particularly thrilled about taking him for blood tests but I did them eventually with the help of EMLA that I pinched from work, and he was brilliant and didn't even flinch when they took his blood, much to my relief.  The usual blood workup for autism was done which included a whole bunch of metabolic tests, endocrine tests (including thyroid function) and general bloods as well as some genetic stuff.

Yesterday my paediatrician called to discuss the results, and she told me that there were some abnormalities in his chromosome microarray, which is a test looking at his DNA to see if there were any deletions or duplications.  And they found that he had a "heterozygous duplication within chromosome band 15q13.3 which involves only one gene CHRNA7".

The report stated that a large study had found that this particular duplication is associated with ADHD (Attention Deficit Hyperactivity Disorder) though my son doesn't have that, but another study said that duplications in the 15q11-13 segments were associated with autism, especially if the duplications were on the maternal side of the chromosome.

Even more concerning to me is when I read all things like this:

The recurrent 15q13.3 microdeletion/microduplication has been reported to cause mental impairment, autism spectrum disorder, facial dysmorphism, seizures and epilepsy...Some of the common clinical features of the BP4a - BP5 ~500 kb deletion were speech delay, developmental delay, ADHD, aggressive behavior, ADHD, and hearing loss. None of the three deletion cases were reported to have either seizures or epilepsy. Phenotypic features of individuals with the ~500 kb duplication include growth delay, midface hypoplasia, speech delay, mild autism and one case exhibiting seizures. Further studies are needed to determine whether CHRNA7 duplications are more likely polymorphic variants with little clinical significance or possibly causative with incomplete penetrance and/or variable expressivity. These results suggest that the deletion/duplication of the CHRNA7 gene by itself may not be sufficient by itself to cause seizures and epilepsy, and may instead be a susceptibility gene related to speech delay, ADHD, autism and aggressive behavior.

There's even a pamphlet on that particular gene duplication!

Looking at that, what does that really mean?  I know that genetic things have incomplete penetrance, so people having this gene don't necessarily get autism, but it makes me wonder for the future - is my son going to pass autism down to his children? If I had known I had a defective gene would that affect my decision to have children even though the chance of anything happening is small?

I find it remarkable that genes are like computer programs or files. The files can copy incorrectly, have errors, have recurring segments or deletions - and in a computer program or file it may have no impact at all, or it may have a massive impact.  I feel lucky that the impact on my son seems small - looking around at other children who have duplications in those regions, they could have ended up with major developmental abnormalities, retardation and poor physical development.

So what does it mean in the present moment?

It means I need to go speak to a geneticist to figure out if I need to do any further tests on my son, or even myself and my husband to see if this thing has any relevance. If either he or I have the same duplication then perhaps it's just an incidental finding that isn't associated with anything as neither of us have autism or developmental delay (that I know of!).  But obviously there is no treatment (nor would I seek one) because my son is going along just fine at the moment.  Makes me wonder in the future when he's grown up and his partner wants to have children, what would they think of this? Though if my son grows up and has no impairments or disability then it would probably not mean anything and he could go on living a normal productive life.  Which is all a mother could hope and dream for!

The Autistic child - First diagnosis

This is a post copied from my other blog, which has relevance more to this blog.  I've put it here so I can track the progress of our journey with the diagnosis of Autism.

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I have the urge to let out the bevy of emotions that have run through me this past few months. I have two lovely children, and like most children seem to be, despite being brought up the same, they are the complete opposite of one another.  The only thing they did similarly was walk at the age of one.

My eldest, a girl, was a reserved child, and didn't show much affection until she was about age four.  She was very shy, but very intelligent, and could sing the Australian National Anthem by the age of two.  She loved to learn numbers and the alphabet.

My son, on the other hand, was affectionate from an early age.  He was a slow talker, in fact, around the age of three when he still wasn't putting three words together, I decided to take him to speech therapy.  He hated books, and would run screaming when I pulled one out.

My daughter loves vegetables, and says she doesn't like eating meat, because she has to chew it a lot and "it hurts my teeth".  My son, picks out all his vegetables and loves to eat meat.  My daughter loves to sleep in; my son loves to get up at the crack of dawn.  My daughter can't help but look, even if it's scary; my son runs from the room and peeks out from behind the wall, or covers his ears and squeezes his eyes shut.  Kids! Such funny little things!

But this story is about my son.

As I watched him growing up, and not quite reaching the same level as his sister in terms of speech and comprehension, I had a lot of people telling me things like:
"Oh, he's a boy, boys are always slower when it comes to speech."
"His sister is talking for him, that's why he's not talking."
"My son did that, but after three he really picked up."

So I thought I would wait.  One of the girls at work had a son a few months younger than mine, and when he was two, she told me she was taking her son to speech therapy.  I asked her why.  She said that he only could say 50 words and he wasn't very intelligible.  I thought to myself, "Gee, my son can only say 25 words," and I thought it was a bit early so I thought I'd just let it be and keep trying at home to get him to say more.

My parents said that it was environmental.  I wasn't spending enough time teaching my son, I was too busy at work, and because they had spent more time looking after my daughter at an early age, that was the reason why he was so behind compared to her, as they spent a lot of time teaching her (my parents are both teachers).  I had some guilt that I wasn't nurturing my son's intellectual needs, compared to my daughter, though I wasn't sure if there was much more that I could do.

It wasn't until we went to a party at a friend's house after he turned three, that one of my friends said that she was really concerned about him.  Her son was younger, but he was so much more advanced than my son in terms of speech and comprehension, that she sent me an email encouraging me to do some interventions because she had a friend who had similar issues to my son and they left it a bit late.

Around that time I had a spate of children who were having grommets put in their ears for hearing difficulties and "language delay" and EVERY single one of those children, younger than my son, were more advanced than he was.  If these kids were delayed, then why wasn't I doing something about my own child?

I didn't want to be a paranoid parent. Worse, I didn't want to be a paranoid DOCTOR parent.  Both my husband and I are doctors, many of our friends are doctors, and every medical professional has their own opinion about how we should bring up a child.

Even my husband didn't think there was anything wrong with my son.  He would grow out of it, and catch up to the rest of the kids, he said.  My son was intelligent - he can make breakfast for himself, use the Nespresso to make coffee for dad in the morning, and follow routines.  He was a stickler for routine though, and disrupting his routine would make him very upset.  Perhaps, that was an early warning sign.

And so, early last year I took him to speech therapy.  After a year of speech therapy, he improved a fair bit, but he was nowhere near any of his peers.  At age four, I still couldn't have a conversation with my son - I could only ask him simple questions with a yes/no answer. I mean, he knew his name, because he would come when called and if I pointed to a picture of him he would say his name, but if I asked him what his name was, he couldn't tell me.  Just a few months before he turned four, he only just grasped the concept of colour.  It was like a light had switched on.

The subject of autism was broached my speech therapist mid last year, and I took him for further testing.  I had already checked his hearing formally (which was perfect), but I sent him for some visual tests, which he passed with flying colours. I kept batting on with his speech, doing our homework at home, and worrying to myself about how he was going to go to school if he couldn't answer his name or understand instructions.

One of the Otolaryngologists (Ear, Nose and throat surgeons) that I work with regularly has three sons, one of which has been diagnosed with autism.  I had talked to him a lot about my son, and he recommended that I speak to one of the developmental paediatricians at our institution.  Interestingly, the surgeon's brother, was the head of paediatrics at that same institution, but he was not a great believer in the diagnosis of autism, which I found amusing.  After all, the two brothers had a lot of autistic traits themselves, and they both became doctors.

And so this year rolled around. Next year my son is supposed to be going to kindergarten, and I was very anxious about how he would cope at school. His speech therapist again broached the subject of autism and so I agreed to have formal testing done.  I had already resigned myself to the fact that he had autism spectrum disorder of some sort, and was trying to figure out how best to help him.  However, so many people poo-poo'd that idea, saying that he was very social and interactive, and autistic children are withdrawn.  It would be expensive - about $650 for a few hours of testing in the presence of a speech pathologist, occupational therapist and a psychologist.  Fortunately, my son seemed to cope ok with that, since he was familiar with the speech path already and I waited a few weeks for the results.

In the mean time, I went to chat to the developmental paediatrician and she gave me a good article to read from the Lancet September 26, 2013, titled "Autism".  This table about the behavioural characteristics of autism caught my eye.

My son had a number of these characteristics, but not all of them.  Hell, people I know now have some of these characteristics!  The paediatrician listened to me describe my son and she agreed he had some marked delay, and she would be interested in seeing the report when it was done.  I pored over the article, and resigned myself to the fact my son was probably in the autistic spectrum somewhere.  The article talked about diagnosing early, and early intervention - earlier than when I had started doing something, and I felt that twinge of guilt again.  But I was the only one who wanted to do anything about it, so if I had left it any longer, it would have been worse off, I thought to myself.

So today, they wanted to discuss the results of the assessment with me.  The director of the team sat me down in her office and started tell me how hard it was to say this, but based on their review, my son had mild-moderate autism.  The psychologist had visited him at daycare, and the carers there had noted that my son would often play by himself, not answer to his name, and need to be called multiple times.  He would often not be interested in group activity or story time, and sit with his back facing the group.  The occupational therapist had said that his fine motor coordination was also poor (but his gross motor was ok) which didn't surprise me as I rarely saw him hold a pencil and draw anything more than line or two.  In terms of speech and comprehension, he functioned at the level of a two and a half year old.  None of this surprised me.  I already knew he was talking like a two year old, and it was a little bit of a relief that there was a diagnosis of some sort made, because now I felt I could focus on how to manage him, how to help him to function normally.  Did this diagnosis mean I had to send him to a special school?

In Australia, if you have the diagnosis of autism made by a professional body, then you are able to access a vast variety of resources.  There is a government allowance every year till the child turns six that can be used for their therapy and teaching, and I also entitled to a carer's allowance, none of which is means tested.  Not that I needed the money, mind you, but it does help a lot with the extra things I needed for my son.  Now he has to attend occupational therapy, and also social skills classes and I was more worried how I was going to fill out the paperwork with this diagnosis, than I was with the diagnosis itself.  The director was concerned because she thought I would be in one of the earlier stages of grief (Denial, Anger, Bargaining, Depression, Acceptance) rather than in the acceptance stage.  I told her that being medical, it was something I had been expecting and I just want to focus on helping him as much as I can.

I told a few people about the diagnosis, and the responses were varied:
"Well, I always thought there was something a little bit funny about him, that will explain why he doesn't listen."
"Oh, what does that mean, will he be autistic for the rest of his life?"
"Maybe he'll get cured later, and everything will be ok."
"Is it hereditary?  He didn't get that from our side of the family, surely..." (!!!)
"I know two people at work with kids with autism, and they are doing really well with interventions."

It wans't until after raid tonight that I went backwards a little and got a little bit teary about the diagnosis. My son is a happy child, though a naughty one at times, full of cuddles, kisses and excitement about things such as planes, garbage trucks and cranes. I worried that when he got to school, because he couldn't understand what the other children said, that they would make fun of him, and he would hate school and then start to act up and then not learn at all.  My son would go from my sweet child to a problem one, and I wanted to avoid that at all costs.  Is that not what every parent wants for their child?

It's a year till he goes to school, though enrolments will probably start around May for placements in 2015. My head is buzzing about whether I need to talk to my daughter's school principal to see if it's appropriate for my son to go there, or whether he has to go to special school of some sort.  My husband wants him held back a year, but I would rather he went to school so he could get as much help as possible. Every day since I've thought he might have autism, I have been trying to make everything he does a learning opportunity. Look at those cars, what colours are they?  Using flash cards in the car for ABC.  Trying to get him to understand the concept of boy/girl by using everyone he knows as examples.  But it's not all learning, I do let him play games as well.  He plays a lot of computer games, and Reading Eggs is a great source of games for him (when I hide the iPad from him so he can't get to Temple Run, Bad Piggies, or this new Mickey Mouse game my husband downloaded).  I've found that with books, he likes books about movies he likes to watch, like Peppa pig, Tinkerbell, Toy Story, so that's a start.  I use his love of cars to do counting and colours (because we seem to have a hell of a lot of matchbox cars).  And in the last few weeks, he has been able to answer me (even though it's probably a parroted learned response) when I say "What's your name?" and he replies "My name is Nicholas*."  Each step is small, and hard earned, and I don't know what our future will bring, and I am sure there will be more tears to come as I struggle with his learning at a school level, but for now I don't ever want to forget my son as he is now - the one who thinks there is nothing wrong with his world, and that everyone around him loves him for what he is, and he is none the wiser.

*name changed