Autism/Aspergers???

[deerhart]

I have two boys who are mildly on the spectrum and they sound exactly like your GERLD/CAPD child. I've never even heard of those disorders! My one child got "aspergers probable" and the other one got "mild autism". Both have come so far that nobody notices their differences! (But, they still struggle with hidden issues) Both are very similiar and both had speech/language delays.

I wish there was a blood test for these kiddos! It would make diagnosis so much easier!

The week my son got an autism diagnosis my friend took her son (same age) to the same doctor and got language delay. Fast forward a few years and mine is getting straight A's in school and blends in w/peers while her's has to have an aide because his now diagnosed autism is so severe!

With what I learned doing tons and tons of research and talking to lots of professionals, I would never trust a doctor that gave a "mild" or probable autism diagnosis. There is nothing in the DSM IV that indicates autism is anything but severe. My son's behaviors never moved beyond moderate even in the social skill area.

I did tons and tons of research. We first though he could be hyperlexic (he taught himself to read at age 2 and was completely obsessed with numbers and letters). That was quickly ruled out because he read for comprehension (which ruled out hyperlexia). Autism was ruled out as well (after the developmental ped spent 5 minutes with him, had him interact very well, said he "could" be pdd-nos but not enough to bother with labeling him.. we kept looking) by a psychiatrist and later by a neuropsych. The psychiatrist dx the MERLD and ADHD-HI, the neuropsych agreed with the assessment (confirming the dxs) and then told us there is something else that they couldn't put their finger on. By then we were already suspecting CAPD due to his behaviors. These included things like insisting we said one workd when we said something completely different and not remotely even like the word he thought we said (ex: royal tree lane he would insist was pine tree lane), his inability to repeat things that were from a non-pure source (ie tv, radio, telephone), his inability to talk on a phone (he would just continue to say what what what or not respond like no one ever said anything), acting deaf in loud or crowded places, the significant language testing results we got based on where the tests where done (test done in single room with no one walking in the halls and no background noise = 6 month or less delay, testing done at school with kids making noise in hall, background noise = 18-24 month delays) . The scary thing about the speech/language results were the three tests that were done (one showed 18-24 month delay both rec/exp, one showed 0-6 month delay, exp only one showed 12 month delay both) were all done within 60 days of each other!

During the neuropsych testing, his autism checklist scores were WAY below even concern level (even by the sped teachers who really thought he was going to get an autism label). Concern level was around 100 with dx closer to 120, he was in the 70's across the board.

He's always going to be socially awkward (but so is his mom) and uncomfortable in social situations (again me!) but that is just as much a function of his personality as anxiety. But it's not severe, it doesn't interfere with his life.

The one left over of both the CAPD and the MERLD we have been dealing with is reading comprehension. It still lags way behind both his reading level and his working IQ, but it is catching up each year. His rushing through everything doesn't help either LOL

 

[GraceLuvsWDW]

I have days with my dd that I absolutely think the dx is wrong, there's no way she could have Autism. Other days I buckle under the absolute debilitation that she experiences and wonder how she'll ever live an independent life. One thing I've realized is that everyone has good days and bad days. That can also account for the variations in testing results. I also had a Dev Pedi tell me she didn't think my dd was on the spectrum after visiting with her for 20 minutes in our first visit, now we still see that Pedi and she doesn't question the dx at all. What I am trying to get at is that these kids can have good days and act fairly NT and be hard for even the most educated and knowledgable Dr's to detect without utilizing the formal diagnostic tools. That's why it is always important to have an extensive battery of tests done that span multiple visits imo.

 

[iwrbnd]

I have days with my dd that I absolutely think the dx is wrong, there's no way she could have Autism. Other days I buckle under the absolute debilitation that she experiences and wonder how she'll ever live an independent life. One thing I've realized is that everyone has good days and bad days. That can also account for the variations in testing results. I also had a Dev Pedi tell me she didn't think my dd was on the spectrum after visiting with her for 20 minutes in our first visit, now we still see that Pedi and she doesn't question the dx at all. What I am trying to get at is that these kids can have good days and act fairly NT and be hard for even the most educated and knowledgable Dr's to detect without utilizing the formal diagnostic tools. That's why it is always important to have an extensive battery of tests done that span multiple visits imo.

Me tooo!!! There are days where I think there is absolutely nothing wrong with my two boys on the spectrum and then there are those days...

 

[bookwormde]

It is important to remember that what everyone is talking about above is all part of the Autism genetic set as it is currenetly understood. Many children will be significantly effected by only one of the 3 major areas so a specific diagnosis in that area is more useful than the broader ASD diagnosis. A diagnosis is only a conveniance for clinicains and to get coverage. It is how each area of differnences impacts your child and the needs that that creates that is important. It is also important to remember that just because a characteristic does not rise to a clinical level that it still has an impact on the fuctional capabilities of a child, even though on many days the child may self adapt, but on days of stress or times of complexity overload if may manefest quite obviously.

The most important thing is to educate yourself in all areas of Autism genetics and the independant subgroups, so that you can to the greatest extent understand and help with your child's needs.

bookwormde

 

[deerhart]

I have days with my dd that I absolutely think the dx is wrong, there's no way she could have Autism. Other days I buckle under the absolute debilitation that she experiences and wonder how she'll ever live an independent life. One thing I've realized is that everyone has good days and bad days. That can also account for the variations in testing results. I also had a Dev Pedi tell me she didn't think my dd was on the spectrum after visiting with her for 20 minutes in our first visit, now we still see that Pedi and she doesn't question the dx at all. What I am trying to get at is that these kids can have good days and act fairly NT and be hard for even the most educated and knowledgable Dr's to detect without utilizing the formal diagnostic tools. That's why it is always important to have an extensive battery of tests done that span multiple visits imo.

We had over 200 pages of medical records, 2 IQ tests, tons of other tests, and input from 10 different caregivers in putting together my son's dx's.

The TRUE key to figuring out was just to keep asking questions. For example, we asked the Developmental ped what how my son met the which 2 social issues under the autism criteria did he meet? He couldn't give us an answer. We asked what his restrictive/repetitive behavior was and got nothing but gibberish about him being "hyper". Versus our neuropsych who had no problems distinguishing how he did/did not meet each of the criteria for each dx he was giving and ruling out (social deficits were mild to moderate NOT severe, no nonfunctional repetitive behavior or routines, and language delay was better explained by MERLD then autism).

This wasn't just a good day versus bad day. My oldest son on a bad day could tantrum for 10-12 hours straight non stop. This was hearing from professionals well he just seems so much like other kids who have been dx with autism so he must be autistic. Or even worse, well just go with the autism label it will get him more help! WHAT???? what good does "more help" do when it's not addressing the real problem!

This was we could change one small thing and get an entirely different child. A good example of this was his kindy party held in the gym. Very very loud, he had been looking at the soft toss and saw they were lined up in three lines. When his section finally got over there, they had changed the way they were doing it to 2 lines. He wanted to toss at the middle bucket and kept trying to get in line for it. They kept trying to tell him to get in another line. His aide stepped in and told him to stop being so rigid, which is when I stepped in, removed him from the extremely loud gym (he was bawling at the time), took him down the hall to a very quiet spot, explained to him that they had changed what was going on from what he had seen, that he needed to get in one of the two lines and after he threw at that bucket, he would then get to toss at the middle. Took him back in, no problems. They could talk and talk and talk to him all they wanted in that environment and were not going to get anywhere because he was basically deaf.

It is also a lot easier to see more borderline cases of autism as the child gets older and those social interactions become more complicated (and the child can't handle it) and other stressors come in and the child's compensation skills can't make up enough to make them look normal still. Our neuropsych told us that if as our son got older and the social stuff got harder and some other things didn't come along, that he could end up being one of those kids that is just so darn smart and so darned good at compensating that he wouldn't fit the dx until he got much older. On the other hand, 1 yar of treatment for the CAPD and no one recognized my child anymore! Language delay all but disappeared, behavior calmed considerably etc.. We spend a good portion of IEP's just marveling at how far he's come.

While I know that good days and bad days do affect testing, that wasn't the case with my son. We could directly affect the outcome of tests by affecting the level of noise he was exposed to during the tests. It was also based on the reported experiences of his behavior in loud areas versus quiet areas etc..

The neuropsych was the best thing we did.

 

[jodifla]

We had over 200 pages of medical records, 2 IQ tests, tons of other tests, and input from 10 different caregivers in putting together my son's dx's.

The TRUE key to figuring out was just to keep asking questions. For example, we asked the Developmental ped what how my son met the which 2 social issues under the autism criteria did he meet? He couldn't give us an answer. We asked what his restrictive/repetitive behavior was and got nothing but gibberish about him being "hyper". Versus our neuropsych who had no problems distinguishing how he did/did not meet each of the criteria for each dx he was giving and ruling out (social deficits were mild to moderate NOT severe, no nonfunctional repetitive behavior or routines, and language delay was better explained by MERLD then autism).

This wasn't just a good day versus bad day. My oldest son on a bad day could tantrum for 10-12 hours straight non stop. This was hearing from professionals well he just seems so much like other kids who have been dx with autism so he must be autistic. Or even worse, well just go with the autism label it will get him more help! WHAT???? what good does "more help" do when it's not addressing the real problem!

This was we could change one small thing and get an entirely different child. A good example of this was his kindy party held in the gym. Very very loud, he had been looking at the soft toss and saw they were lined up in three lines. When his section finally got over there, they had changed the way they were doing it to 2 lines. He wanted to toss at the middle bucket and kept trying to get in line for it. They kept trying to tell him to get in another line. His aide stepped in and told him to stop being so rigid, which is when I stepped in, removed him from the extremely loud gym (he was bawling at the time), took him down the hall to a very quiet spot, explained to him that they had changed what was going on from what he had seen, that he needed to get in one of the two lines and after he threw at that bucket, he would then get to toss at the middle. Took him back in, no problems. They could talk and talk and talk to him all they wanted in that environment and were not going to get anywhere because he was basically deaf.

It is also a lot easier to see more borderline cases of autism as the child gets older and those social interactions become more complicated (and the child can't handle it) and other stressors come in and the child's compensation skills can't make up enough to make them look normal still. Our neuropsych told us that if as our son got older and the social stuff got harder and some other things didn't come along, that he could end up being one of those kids that is just so darn smart and so darned good at compensating that he wouldn't fit the dx until he got much older. On the other hand, 1 yar of treatment for the CAPD and no one recognized my child anymore! Language delay all but disappeared, behavior calmed considerably etc.. We spend a good portion of IEP's just marveling at how far he's come.

While I know that good days and bad days do affect testing, that wasn't the case with my son. We could directly affect the outcome of tests by affecting the level of noise he was exposed to during the tests. It was also based on the reported experiences of his behavior in loud areas versus quiet areas etc..

The neuropsych was the best thing we did.

Yes, that's why I tell everyone I can to see someone who is QUALIFIED. It makes such a big difference.

You can waste so much of your time and resources, and your child's young life, if you have the wrong information about what's going on with them.

And I'm always flabbergasted when school personnel can't appreciate how having severe language issues impacts not just academics, but behavior and outlook and social contact. Is it really that hard to see that if you couldn't express your feelings, you'd be pretty darned frustrated?? That if people made fun of you, or gave up on you, or made you feel bad about the fact you couldn't keep up a conversation with them, that you'd probably distance yourself from them?

I even have to keep reminding them to "SLOW DOWN" when they talk to him and use fewer words. It's just mind-boggling sometimes.

 

[goofy's friends]

Well, we had our appointment yesterday. It was a lot to take in and it was just the beginning. The evaluator's recommendation is that "he is at high-risk for being diagnosed on the spectrum." Like I explained before, she doesn't do the testing, just decides if more testing is warrented. So, we are being sent for testing. The bad news is that testing there is 8 months out. However, we qualify for a research study on autism in families that don't have any previous cases of autism. They will test him in a month! So, we are going ahead with that. I have been assured that if they don't believe it is autism, we will be referred to the appropriate psychologists that can help. These researchers are the same testers that would do the 8 month testing, but because we may qualify for the research, they are doing it earlier.

 

[iwrbnd]

Well, we had our appointment yesterday. It was a lot to take in and it was just the beginning. The evaluator's recommendation is that "he is at high-risk for being diagnosed on the spectrum." Like I explained before, she doesn't do the testing, just decides if more testing is warrented. So, we are being sent for testing. The bad news is that testing there is 8 months out. However, we qualify for a research study on autism in families that don't have any previous cases of autism. They will test him in a month! So, we are going ahead with that. I have been assured that if they don't believe it is autism, we will be referred to the appropriate psychologists that can help. These researchers are the same testers that would do the 8 month testing, but because we may qualify for the research, they are doing it earlier.

Hang in there and keep us posted on the testing!

 

[bookwormde]

Reaserch studies are a great way to get a real high quality diagnosis since the standards for defining the study population are peer reviewed. We did one at Kennedy Kreiger (Johns Hopkins in Baltimore) and it also served as the documentation for the 3 year IDEA review.

bookwormde

 

[jodifla]

Well, we had our appointment yesterday. It was a lot to take in and it was just the beginning. The evaluator's recommendation is that "he is at high-risk for being diagnosed on the spectrum." Like I explained before, she doesn't do the testing, just decides if more testing is warrented. So, we are being sent for testing. The bad news is that testing there is 8 months out. However, we qualify for a research study on autism in families that don't have any previous cases of autism. They will test him in a month! So, we are going ahead with that. I have been assured that if they don't believe it is autism, we will be referred to the appropriate psychologists that can help. These researchers are the same testers that would do the 8 month testing, but because we may qualify for the research, they are doing it earlier.

It's wonderful you won't have to wait so long! Keep us posted.

 

[iwrbnd]

Just thought you might be interested in this...

Consortium Recommends Microarray Testing as New Standard for Pediatric Genetic Diagnosis
ScienceDaily (May 13, 2010) — An international consortium of genetics experts has issued a consensus statement recommending chromosomal microarray (CMA) as the new standard practice for genetic evaluation of children with unexplained developmental delay, autism or birth defects.

The statement and a related research review are published in the May 14, 2010 issue of the American Journal of Human Genetics.

"CMA gives us a huge improvement in the diagnostic yield of genetic testing and in our ability to counsel parents about why their child has developmental disability or multiple congenital anomalies," says David Ledbetter, PhD, Woodruff professor and director of the Division of Medical Genetics at Emory University School of Medicine. Ledbetter heads the International Standard Cytogenomic Array Consortium (ISCA), a group of clinical genetics laboratories and genomics experts focused on standardizing the collection of cytogenetic data.

"Our consortium statement should help set the new standard of care for genetic evaluation of children with unexplained developmental delays and other birth defects, and should be a major step forward in using modern genomic technology in a clinical setting," Ledbetter says.

Clinical genetic testing is a standard diagnostic practice for testing children with unexplained developmental delay/intellectual disability, autism spectrum disorders and multiple congenital anomalies. These disorders account for the largest proportion of genetic testing because of their high prevalence in the population. Developmental delay/intellectual disability is present in about three percent of the population, and autism spectrum disorders affect approximately one in 150 people.

Previous guidelines have recommended testing with G-banded karyotyping, a type of chromosome testing that was first developed in the early 1970s. These tests allow geneticists to visualize and analyze chromosomes for imbalances, including deletions and duplications of genetic regions (copy number variations) that can be inherited or represent new mutations during sperm or egg development. Some copy number variations are common and benign, while others are associated with disease or developmental disorders.

The human genome project allowed geneticists to develop chromosomal microarray (CMA), also referred to as molecular karyotyping. Various forms of CMA have been used by an increasing number of geneticists, pediatric neurologists and developmental pediatricians over the past several years to evaluate children with developmental disorders. However, uniform best practice guidelines have not yet been issued by professional societies for the routine use of CMA as a first tier test.

"A karyotype to scan for chromosome problems is already a well accepted standard of care for these patients," says the article's first author, David Miller, MD, PhD, of the Division of Genetics and Department of Laboratory Medicine at Children's Hospital Boston. "CMA is a more powerful chromosome scan, so we believe it makes even more sense to do a CMA test in the majority of patients."

The ISCA conducted a literature review of 33 studies, including 21,698 patients tested with CMA, and compared CMA to G-banded karyotyping. They found that CMA consistently has a diagnostic yield of 15 to 20 percent, compared to approximately five percent with G-banded karyotyping. The higher yield of CMA is due primarily to its higher sensitivity for submicroscopic copy number variations.

The ISCA organized two workshops, beginning in 2008, to analyze the research data and develop the consensus opinion. Sufficient research data now exists, the consortium reports, to support CMA as the first frontline test in the evaluation of any child with unexplained, non-syndromic developmental delay, intellectual disability or autism. CMA should replace the G-banded karyotype, which has been the standard for 30 to 40 years, the group recommends.

"We hope that our statement, which represents many different institutions and many different clinicians and laboratory experts, will provide other professional organizations the background scientific data to endorse the conclusions of our group or to make their own evaluation of the data and clinical utility," says Ledbetter.

A third ISCA workshop this June in Bethesda, Md., will include clinicians, clinical labs, genomics and bioinformatics experts, as well as representatives from the top vendors developing chromosomal microarray technology and software for analysis.

Using a Grand Opportunities "GO" grant from the American Recovery and Reinvestment Act (ARRA) through the NIH, the ISCA has been developing a central public database of chromosomal microarray data from clinical labs. That database, which will be housed at the National Center for Biotechnology Information (NCBI) at NIH, is expected to include approximately 200,000 patient samples over the next two years that will be used to develop standard guidelines for interpretation of CMA tests.

The database also will be used to develop additional summary recommendations and allow the ISCA to work with vendors to make interpretation guidelines and software tools available to all clinical testing labs and to clinicians who want to better understand and interpret the laboratory data from their patients.

The ISCA now has a membership of more than 100 clinical cytogenetics laboratories that will contribute genotype and phenotype data to the central database at NCBI. The consortium will continue to collect and analyze data from the pediatric population and compare it to normal copy number variation data from other large databases and continue to refine maps of pathogenic vs. benign copy number variation in the human genome.

Short order...you might want to ask your doctor for a "microarray" blood analysis.

 

[goofy's friends]

Thanks for that...not sure I understand it very well, but I wonder if this what the research study we will be involved in is studying. I will ask some more questions for sure

 

[iwrbnd]

Thanks for that...not sure I understand it very well, but I wonder if this what the research study we will be involved in is studying. I will ask some more questions for sure

Definately keep me posted!

 

[GraceLuvsWDW]

These kinds of "studies" make me nervous. Why do I feel think is just a skip and a jump away from them trying to "cure" the "genetic mutation" which is involved in Autism? As has been stated before, without Autism genetics the world would be a much less technologically evolved place!

 

[jodifla]

That study also just looks like they are mapping right now. It looks like it would be good information for them, but not really all that helpful to tell you what's going on with your child at this point.

 

[iwrbnd]

(GraceLuvsWDW) These kinds of "studies" make me nervous. Why do I feel think is just a skip and a jump away from them trying to "cure" the "genetic mutation" which is involved in Autism? As has been stated before, without Autism genetics the world would be a much less technologically evolved place!

I completely understand your point, I really do, but if I could take away the ASD struggles from my child I would do it in a heartbeat! My asd boys are very smart w/math and technology and I don't want to take that away, however their cousins are even brighter and they aren't on the spectrum. There are still a lot of brilliant people out there that don't have autism. Like I said, though, I really do see your point and know what a contribution those on the spectrum make to society. My heart still breaks for my boys with their struggles, though! Life is hard for them!

(jodifla)That study also just looks like they are mapping right now. It looks like it would be good information for them, but not really all that helpful to tell you what's going on with your child at this point.

You're right, lots of it is still mapping at this point. However, it still can possibly help with your child right now. My sister's 12 yr. old son has been diagnosed with autism since he was 3 yrs old. He just had this test done last month and they found out he actually has Phenan-Mcdermid Syndrome (spelling?) She also found out they are almost in the drug testing phase for this syndrome! She would never have known this without the test. It gets her on a more precise road for her son rather than a big umbrella diagnosis of autism. It has also helped with insurance because he's now considered "medical" instead of "behavioral/mental" which reimburses way better!

Whether someone decides to do this test or even treat autism someday is a personal decision. For me, I would do anything to make life easier for my boys and take away their struggles. On the same note, I love them no matter what and appreciate the special talents that asd brings, too!

 

[GraceLuvsWDW]

I completely understand your point, I really do, but if I could take away the ASD struggles from my child I would do it in a heartbeat! My asd boys are very smart w/math and technology and I don't want to take that away, however their cousins are even brighter and they aren't on the spectrum. There are still a lot of brilliant people out there that don't have autism. Like I said, though, I really do see your point and know what a contribution those on the spectrum make to society. My heart still breaks for my boys with their struggles, though! Life is hard for them!

What if you couldn't take away their struggles without taking away their talents? Would you rather have a "typical" child with less struggles than your kids that are so unique and talented?

I know what you're saying, I've thought it before too. Especially on those VERY hard days. But given the struggles (and let me tell you my dd has a LOT of them) I'd still keep her the way she is, even if a "cure" came out tomorrow. I've tried meds to tame the anxiety and sensory struggles but in the long run, it's a package deal. The profound gifts come with the struggles. Now mind you, my dd is very high functioning, so I could see how a cure for the Kanner's type Autism would be beneficial.

 

[kirstenb1]

What if you couldn't take away their struggles without taking away their talents? Would you rather have a "typical" child with less struggles than your kids that are so unique and talented?

I know what you're saying, I've thought it before too. Especially on those VERY hard days. But given the struggles (and let me tell you my dd has a LOT of them) I'd still keep her the way she is, even if a "cure" came out tomorrow. I've tried meds to tame the anxiety and sensory struggles but in the long run, it's a package deal. The profound gifts come with the struggles. Now mind you, my dd is very high functioning, so I could see how a cure for the Kanner's type Autism would be beneficial.

I'm with Iwrbnd. I'm still waiting for these gifts to emerge. I'd take my chances, and jump at a cure.

 

[GraceLuvsWDW]

I'm with Iwrbnd. I'm still waiting for these gifts to emerge. I'd take my chances, and jump at a cure.

I'd be too afraid that it would take away dd's personality-the dd I know. What would we do with our kids if they didn't have their special areas of interest or were suddenly social butterflies? It would be too weird...

Too hard for me to even contemplate.

Would I take away the anxiety and sensitivities if I could guarantee that's ALL that would be taken away? Heck yes, I'd do that. But I still think it's a "package" deal.

 

[iwrbnd]

What if you couldn't take away their struggles without taking away their talents? Would you rather have a "typical" child with less struggles than your kids that are so unique and talented?

I know what you're saying, I've thought it before too. Especially on those VERY hard days. But given the struggles (and let me tell you my dd has a LOT of them) I'd still keep her the way she is, even if a "cure" came out tomorrow. I've tried meds to tame the anxiety and sensory struggles but in the long run, it's a package deal. The profound gifts come with the struggles. Now mind you, my dd is very high functioning, so I could see how a cure for the Kanner's type Autism would be beneficial.

It's a hard question and I've thought about it a lot, too. My two are also high-functioning but I'm afraid their talents won't ever be used. Plus the stress of everyday life is so hard I feel they miss out on the joys of life. So, I would have to say, "yes" I would take a cure to let them live a "typical, less struggle, average life". I may be wrong, though! I'm also not sure they wouldn't still be "math smart" since that runs in our family. We have LOTS of engineers in our family history, which interestingly, I read families w/engineers have a higher incidence of having children with autism!

I do think it's wonderful that you're at a place in your life where you can say that, though. I'm just not there yet. But, like I said, I see your point and it's a valid one!