In need of information regarding new ASD diagnosis...

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Hi,

I'm in need of a little help - sorry for the long read. Our first child is 2 years, 5 month old and was diagnosed with ASD at 2 years old - this past June. At the time of diagnosis I was told he doesn't have asperger's and that he has classic autism with regression and that he is more than mild. He showed no signs that my wife, me or our family or our doctor could tell in his first year, he made good eye contact, laughed and giggled, share and ate his food well, he turned over a 7 months, sat up a 9 months, started crawling at 11 months and walked at 12 months - all typically (although he never pointed, had imaginative play and he "agoo'd from 3-5 months then stopped - I guess these were signs but we were told all this typically happens after 12 months). He would crawl after me into every room I went into, I was constantly looking behind me so that I wouldn't step on him. I would play games like chase daddy, and go around the corner, he'd follow, then I'd jump out on my hands and knees and he'd get excited and crawl away giggling. We would do this again and again. When he was walking good at 13 months I'd play the same game excepted I'd hide behind doors and call out his name to come and find daddy. He'd come and find me, he'd run away and I'd chase him and then go hide behind a different door and we'd do it again. He climbed on the couch, walked, ran and had good balance, was strong (he'll pulled us to what he wanted us to get him), he had good gross motor movements - his fine motor and "clapping hands" or coordinating hands in space (I don't know what to call it) was not so good - he never lost these abilities.

About 13 months my son started saying "ma", "da". "go", "do" then "I go", "I do", he said his middle name once and "bear". Over the next few months he'd be at the front door saying "go" when we were going to grama's (she baby sat him from 11 months on) and just before I'd get to grama's to pick him up after work he'd be at the door ready to leave saying "I go". Then, as quick as he started to talk, he slowly just said his few words less and less until he stopped talking, his eye contact faded, he didn't respond to his name, he became less interest in us and more interested (only interested) in things like zippers on jackets, strings on hoddies, looking out the window, TV (movies). At 18 months we took him to get checked, raised our concerns with his ped. doctor and she wasn't really concerned, just sent him for a hearing test - he passed and that doctor wasn't concerned either. Next we were referred to a speech pathologist at 23 months who said all the signs of Autism were there. It hit us hard, as two doctors said he was just speech delayed and nothing more.

Currently, sometimes he's "there" sometimes he will look right through us like were are not there, me more than my wife - everything is a little bit better with her. Since the diagnosis we've been working with him, our speech pathologist and an ABA consultant to gain imitation/preverbal skills so that hopefully he'll be able to talk again - he hasn't said a word in over a year. Once he's talking/engaging we're gonna do less ABA and more RDI/Floortime/More than Words (Hanen) type therapies. My son seems okay with learning things, he usually only needs to be shown things once or twice before he catches on, but motivating him to do things is difficult.

So here's my question that I need help with:

My son had genetic testing - he had a Fragile X test using a PCR analysis and his CGG repeat was 31 - normal and this test is 99% accurate, only a point mutation or deletion within the FMR1 gene could account for the other 1%. Our genetic doctor also had cytogentic microarray testing done as well to account for that remaining 1% as well as other known genetic causes - it came back "NORMAL male genomic profile with no diagnostic copy number changes observed."

These results were given to me by our ped. doctor who was forwarded a copy of them (she really couldn't even explain the results) not the genetic doctor who ordered them - we are waiting to see the him again. Even though the results came back negative, I'm still worried. At 2 years old, our son has a larger head circumference at 94 percentile, 34 inches tall 85 percentile and he was 32 pounds or as the genetic doctor put it he is as big as a 2 year old can get. But this is were I'm really worried - he also has a high hairline and fine hair in front which gives him a large forehead, a button nose and a prominent lower jaw, he's still flat footed and has loose joints. When he was born he looked perfectly normal and everyone still say he still does, but IDK if I'm starting to see some changes or if he's getting a "look" maybe all the pictures on the internet of ASD causing syndromes is getting to me - waiting 6 months to see the genetic doctor is making me lose my mind. Does anyone know of anything else I should be asking the genetic doctor to test for that the above tests didn't cover?
It takes 6 months every time to see this doctor so I want to be prepared with anything I should be asking him.

And forgive me if anything above was found to be offensive, I'm new to this and I'm trying to be respectful to everyone here. I couldn't love my son anymore before we found out, and I still couldn't love him anymore after - I always will. I'm just trying to help him as best I can.

To be honest I'm not sure there's much a genetic specialist could tell you with regard to the possibility of autism; we don't have any physical tests for it yet, and have only just begun to scratch the surface as far as finding the "autism gene". There is a general consensus that there is more than one; I've heard of deletions of segments of the 7th chromosome, as well as implications regarding the 15th, but nothing defintive.

Autism of the regressive type is found in 25-30% of autistic children, and so is not uncommon. It generally presents as you describe; with a gradual loss of language and diminished social behaviour. I wouldn't worry too much about the possibility of a genetic comorbidity, especially as your son's initial test came back clear.