Genetic test for autism or aspergers? - Mothering Forums

Forum Jump: 
 
Thread Tools
#1 of 10 Old 06-10-2009, 08:51 PM - Thread Starter
 
Julianito's Avatar
 
Join Date: Mar 2006
Posts: 226
Mentioned: 0 Post(s)
Tagged: 0 Thread(s)
Quoted: 3 Post(s)
Hi,

Last month we saw a developmental pediatrician and she gave us a very soft definition of Aspergers or HFA. (My son, just turned 4, has apraxia of speech, hypotonia, has been having some social struggles at school as he starts it for the first time, and has a rough early medical history that has finally settled down).

Anyway today we saw a geneticist on a cranio-facial team to talk about velopharangal issues he's having and she is running a Q22 chromosome test. But we felt so confused and unsure if the autism/aspie's definition fits him, that I started to wonder on the ride home (bad timing, I know) if there is any way to tell genetically if he does or does not, have it.

Does anyone know anything about this? Or is it something neurological testing picks up? How do we find out for sure if this (autism) is what we should be focused on?
Julianito is online now  
#2 of 10 Old 06-10-2009, 09:12 PM
 
snowmom5's Avatar
 
Join Date: May 2008
Posts: 765
Mentioned: 0 Post(s)
Tagged: 0 Thread(s)
Quoted: 0 Post(s)
I don't see where the autistic disorders fit in what you wrote. "some social struggles at school" - depends on what this means . I just happened to post this link on another post a moment ago - the diagnostic criteria http://www.cdc.gov/ncbddd/autism/ove...c_criteria.htm

Apraxia and hypotonia are not part of autism, at least as far as I can tell, at all. (Indeed I see both of them as a subset of sensory processing disorder, a problem of the central nervous system).

No, there's no genetic test for autism or aspergers. I think that's a long way off, unfortunately.

good luck with your testing!
snowmom5 is offline  
#3 of 10 Old 06-10-2009, 09:57 PM
 
BookGoddess's Avatar
 
Join Date: Nov 2005
Location: Gryffindor Tower at Hogwarts
Posts: 6,365
Mentioned: 0 Post(s)
Tagged: 0 Thread(s)
Quoted: 1 Post(s)
No there is no genetic test for autism or asperger syndrome. No urine test, no hair sample, no blood test will tell you if your child is on the autism spectrum.

The diagnosis for both are made on observations of the child 's behavior over a period of time and talks with the parents/guardians of the child. If you're in the USA, the diagnosis is made on the criteria set in the DSM-IV.

Autism can cause speech difficulties and social skills impairment. Some, though not all, children on the spectrum have apraxia and hypotonia. A pediatric neurologist or a child psychologist should be able to better help you with a definitive diagnosis. It's possible to have an autism spectrum condition and an overlapping metabolic/genetic condition as well. There are moms here who know more about those issues so hopefully they will jump in here.

Normal is just a setting on your dryer.
BookGoddess is offline  
#4 of 10 Old 06-10-2009, 11:35 PM
 
sbgrace's Avatar
 
Join Date: Sep 2004
Posts: 9,213
Mentioned: 0 Post(s)
Tagged: 0 Thread(s)
Quoted: 0 Post(s)
The previous poster's are correct in that there is no genetic test for autism--nothing even close to that. However, there are certain genetic and metabolic conditions that often or even close to always have autistic features. But that is a small percent of autistic kids. That said, I believe there is a 22Q deletion in a certain spot--11.2 maybe based on a quick google--that has autism features in a significant portion of affected kids (not all). So that's possibly what the developmental ped. was referring to. But I agree that even if your kiddo has that deletion it doesn't mean he also has autism. He might. He'd need an assessment for that particularly to know for sure.

Here are a couple of links that I think are most helpful to know if autism might be a possibility.
http://www.childbrain.com/pddassess.html This one is a quiz type thing that scores a child as not, mild, moderate and so on so you know if actual evaluation might be helpful. It's not diagnostic of course but can give good information.

http://www.bbbautism.com/diagnostics_psychobabble.htm This link breaks down the diagnostic criteria into real world language and provides lots of examples.

If your son meets the criteria for autism I believe you'll find that appropriate autism interventions, should you decide to do them/he needs them, will be helpful no matter the underlying cause. That's been true here.

Rachelle, mommy to 8 year old boys! 

My Blog-free homeschooling finds and my lesson plans and link to the new User Agreement

sbgrace is offline  
#5 of 10 Old 06-11-2009, 06:59 AM
 
JessSC's Avatar
 
Join Date: Jan 2007
Posts: 533
Mentioned: 0 Post(s)
Tagged: 0 Thread(s)
Quoted: 0 Post(s)
My son saw a geneticist to rule out fragile X and the 22Q disorder. Sometimes other genetic/metabolic disorders can be labeled autism, so its good (IMO) to rule it out.
JessSC is offline  
#6 of 10 Old 06-11-2009, 03:02 PM
 
CarrieK's Avatar
 
Join Date: Feb 2005
Posts: 159
Mentioned: 0 Post(s)
Tagged: 0 Thread(s)
Quoted: 0 Post(s)
The micro-array panel test will be able to rule out chromosome abnormalities. This is a blood test. You can ask the dev ped or you many have to go to a geneticist. Some children with differences in their chromosomes show autistic traits. DS has a micro-duplication on chromosome 17 which I believe to contribute to his autistic traits. DH and I also had the blood test and it came back normal. Therefore, I feel that the micro-duplication, which happened during conception, has played some effect on his development. However, science has not caught up to determine this to be absolutely true. It's just a clue and doesn't lead anywhere definitive. There's no test you can take that will give you a definitive answer but it can give clues.
CarrieK is offline  
#7 of 10 Old 06-12-2009, 03:34 AM
 
Jennifer Z's Avatar
 
Join Date: Sep 2002
Location: Kansas
Posts: 3,871
Mentioned: 0 Post(s)
Tagged: 0 Thread(s)
Quoted: 0 Post(s)
genetic tests are to rule out other possiblities. Autism spectrum dx is the symptoms in the absence of another explanation.

Mom to 10yo Autistic Wonder Boy and 6yo Inquisitive Fireball Girl . December birthdays.

Jennifer Z is offline  
#8 of 10 Old 06-13-2009, 12:42 AM
 
leafwood's Avatar
 
Join Date: Jun 2004
Location: New York
Posts: 2,987
Mentioned: 0 Post(s)
Tagged: 0 Thread(s)
Quoted: 0 Post(s)
just to add, the closest thing we have as far as a "gold standard" assessment now is the ADOS (autism diagnostic observation schedule) and the ADI (autism diagnostic interview). they can be administered and used diagnostically by either a doctoral level clinical psychologist or medical dr with sepcialized training. that being said, it sounds like your little one has been coping with a lot of underlying issues which would naturally interfere with social development to some extent. it's frustrating to me that professionals begin to throw around such hefty terms w/o explaination or solid basis for their thought process!

Happy Mommy to one amazing girl (6y) and one sweet boy (2y), and wife to DH since 7/03 : :
leafwood is offline  
#9 of 10 Old 06-13-2009, 01:16 AM
 
Kelsa's Avatar
 
Join Date: Jun 2009
Location: Austin, Texas
Posts: 21
Mentioned: 0 Post(s)
Tagged: 0 Thread(s)
Quoted: 0 Post(s)
Austism/ Asperger's Syndrome cannot be determined through genetic testing. However, genetic testing can rule out other things. The best way to find out if your child has autism or falls somewhere on the autism scale is to have an evaluation done. If your child attends a public school, you can request an evaluation from specialists provided by the school. If not, you can reach out to an MHMR center for a list of resources in obtaining an evaluation from a qualified psychologist/ therapist. You can also discuss your concerns with your child's pediatrician. Health insurance companies tend to provide services when a qualified doctor has made a diagnosis.

The assessments generally used for diagnosis are the ABAS-II (Adaptive Behavior Assessment System, 2nd edition), BASC-2 Parent Rating Scales, Gilliam Autism Rating Scale, Gilliam Asperger's Disorder Scale, and Childhood Autism Rating Scale. Be sure to include information about any developmental delays your child has experienced. Most children with autism have developmental delays, the most common being delayed speech. Studies have also shown that many children with autism had larger heads in infancy and toddler years than typically developing children. (The science behind these studies can be found on wikipedia.)

Autism is mysterious and no two children with autism are exactly alike. However, just as a point of comparison: Our son lacked the sucking reflex at birth. He did walk until he was 2 yrs of age, did not babble until age 3, and did not put two words together to form a meaningful phrase until age 5. He will go to great lengths to avoid eye contact with people he does not know extremely well. He is often confused by language. Sometimes we can engage in meaningful talks with him, and other times, he looks right through us, completely unaware of his surroundings. He can look at a building or an electronic toy and days later reconstruct it using Legos. Yet, he has difficulty with the alphabet at age 7. He shrieks shrill squeals for no apparent reason several times a day and randomly repeats parts of phrases he hears. These are just a few of the more common behaviors seen in many children with autism. Btw, Wikipedia is a great source of dependable information on the subject.

Mommy to 7 yr old son and 5 yr old daughter ~ Homemaker ~ Cultural anthropology student ~ Partner to the world's hottest tech nerd ~ Lover of culinary arts
Kelsa is offline  
#10 of 10 Old 06-13-2009, 07:44 PM - Thread Starter
 
Julianito's Avatar
 
Join Date: Mar 2006
Posts: 226
Mentioned: 0 Post(s)
Tagged: 0 Thread(s)
Quoted: 3 Post(s)
Quote:
Originally Posted by leafwood View Post
just to add, the closest thing we have as far as a "gold standard" assessment now is the ADOS (autism diagnostic observation schedule) and the ADI (autism diagnostic interview). they can be administered and used diagnostically by either a doctoral level clinical psychologist or medical dr with sepcialized training. that being said, it sounds like your little one has been coping with a lot of underlying issues which would naturally interfere with social development to some extent. it's frustrating to me that professionals begin to throw around such hefty terms w/o explaination or solid basis for their thought process!
We had the ADOS. He scored zero (you need a 13 for the diagnosis) but the dev. pediatrician said she was using professional judgment given the teacher's reports of rigidity in play and social struggles with his peers, and early history like his not pointing and pulling us places. He's very empathetic and social but does have some social quirks that can awkward.

I'd just like to know what is going on so we do the best things for him. For example, if it just frustration with not being understood I'd keep him home til he is clearer. But if its autism I think school has some social advantages with peers I can't give him alone.
Julianito is online now  
Reply

Quick Reply
Message:
Drag and Drop File Upload
Drag files here to attach!
Upload Progress: 0
Options

Register Now

In order to be able to post messages on the Mothering Forums forums, you must first register.
Please enter your desired user name, your email address and other required details in the form below.
User Name:
If you do not want to register, fill this field only and the name will be used as user name for your post.
Password
Please enter a password for your user account. Note that passwords are case-sensitive.
Password:
Confirm Password:
Email Address
Please enter a valid email address for yourself.
Email Address:

Log-in

Human Verification

In order to verify that you are a human and not a spam bot, please enter the answer into the following box below based on the instructions contained in the graphic.



User Tag List

Thread Tools
Show Printable Version Show Printable Version
Email this Page Email this Page


Forum Jump: 

Posting Rules  
You may post new threads
You may post replies
You may not post attachments
You may not edit your posts

BB code is On
Smilies are On
[IMG] code is On
HTML code is Off
Trackbacks are On
Pingbacks are On
Refbacks are Off