genetic counseling for families with ASD

Does anyone have any info, preferably peer reviewed or at least reputable statistics, that sheds light on the prevalence of ASD's in first cousins (moving beyond that available for siblings) that could be used to help families who aren't sure of their level of risk?? If not currently available, I'd like to see some good info out there.

Hi missbennett.

I have been looking, but have so far been able to find, specific information on the prevalence of ASDs in first cousins. I did find one study that looked for the Broad Autism Phenotype (that is, autistic traits but not the full diagnosis) in a wide range of family members. That article is:

Pickles, A., Starr, E., et al. (2000). Variable expression of the autism broader phenotype: Findings from extended pedigrees. Journal of Child Psychology and Psychiatry, 41(4), 491-502.

These researchers compared extended families of children with ASDs with those of children with Downs Syndrome. They found that 7.5% of the relatives of individuals with ASD were classified as falling within the broad autism phenotype (people with autistic-y traits), while only 2.7% of the relatives of individuals with Downs did so. Basically, this is just more evidence for that fact that there are genetic factors involved in ASDs.

To read more on Autism and genetics in general, go here:
http://www.iancommunity.org/cs/understanding_research/insights_from_genetics

What I haven't found yet is whether anyone has calculated a specific risk for first cousins. If I do, I will post it!

First cousins, by the way, are "third degree relatives." That means they share 1/8 of a person's genes. First degree relatives (parents, siblings, children) share 1/2 a person's genes, while second degree relatives (aunts, uncles, nieces, nephews, grandparents) share 1/4.

Thank you Connie! That is very helpful and I have passed along the link as well. I really appreciate your efforts to find that info!!

Connie (IAN Staff) wrote:

Hi missbennett.

To read more on Autism and genetics in general, go here:
http://www.iancommunity.org/cs/understanding_research/insights_from_genetics

Interpretations of genetic data where the cause(s) are unknown are inappropriate when they are labelled as 'genetic'. A better understanding of how twin data can be misinterpreted is to compare the genetic data reported in autism to the genetic data in other conditions where the cause(s) are completly understood.

The 'cause' of leprosy is exposure to Myobacterium Laprae but the genetic data in leprosy is a mirror image of the genetic data published in autism over many decades. Twin studies in India have shown the magnitude of the genetic compnent with very high concordance rates reported in monozygotic twins ( 60 -85%

and a rapid fallof in concordance rates in dyzygotic twins ( 5 - 20%

. The sib risk ratio is 2.4, the same as reported by Folstein and Rutter as well as Pickles. Multiplex leproy families have been recruited and genome wide scans for leprosy suscetability genes have been underway for many years with just as many candidate genes identified as there are in autism. There is also the same unexplained high male to female ratio ( 3:1 in leprosy)that has perplexed autism geneticists

http://www.nature.com/ng/journal/v27/n4/full/ng0401_439.html

Its all in interpretation of data isn't it. As a parent myself and an occasional contributor to the Journal of Autism and Developmental Disorders back in the early 1990's before my daughter recovered, my view is that parents must question everything they are told, unsparingly.

I see the response of the autism research community to the perplexing problem of autism to be based entirely on whatever the current thinking in child psychiatry happens to be.

The dark ages of when a refrigerator mother happened to defrost long enough to have inflicted psychological damage in their child has been replaced by the new paradigm where refrigerator parents have defrosted long enough to have induced genetic damage in the child.

BTW when is Kennedy Krieger going to segregate concordance of their MZ twins by chorionic status?

I'm intrigued by your comments. If I understand them, you are saying that while a genetic cause may appear to be operating, in the absence of proof, data may be misinterpreted. Certainly, that could be occuring in autism research, however, I wonder what your hypothesis is and whether data can be obtained to support it. I am also curious what data is found in other diseases or disorders with known causes that could appear to suggest a genetic component. Perhaps a survey of many diseases/disorders could shed light on the prevalence of misleading "genetic" data.

Just a couple comments to add...

Currently, there is much discussion about epigenetics, which is the study of how environmental factors can impact genes (by, for example, turning them on or off) without actually altering the genetic code. What this means is that there is no longer a clear, hard line between "genetics" and "environment," an either/or split. You can have both operating at once --which makes it all even a more complex puzzle for researchers. In fact, many researchers believe this may be the case with ASDs --that both genetic and environmental factors may be involved.

In any case, we are still so in the dark about what specifically causes ASDs. I know parents often struggle with guilt and blame themselves, even not knowing the cause, but I hope they have been relieved at least of the kind of external, finger-pointing blame that was part of the Refrigerator Mother Theory of autism. (As for how to feel about genes passed down, that is something all modern parents may struggle with, no matter what their child suffers from in terms of negative traits or inherited disease, be it Dyslexia or Diabetes. Do you blame yourself? Do you accept it as random and out of your control? However you cope with it, it's an issue that is part of the modern landscape.)

For those who are interested, you can read about the Refrigerator Mother Theory of Autism here (scroll to the bottom): http://www.iancommunity.org/cs/understanding_research/cognitive_theories_explaining_asds

Connie, I certainly appreciate your balanced comments. My reaction to the concept of genetic "guilt" was similar. As we learn more about heredity we all must deal with that issue. Personally, I feel no guilt; as far as the broad autistic phenotype, should I point fingers at family members (other than the type of dark humor that helps us get through the days!)? My interest in this topic is intellectual, but also very much practical. I don't care because I need to know who to blame; I care because autism may impact my whole family.

Thank you, missbennet, and I think you make a good point here, as far as genetics and our families. One thing I hope an understanding of autism and genetics will give people is a deeper understanding of, and empathy for, others in their family (or maybe even themselves) who have autistic-like traits associated with the "broad autism phenotype." By this, I mean things like social anxiety, a detail-oriented/see the trees not the forest processing mode, an obsessive special topic, etc.

Connie (IAN Staff) wrote:

Thank you, missbennet, and I think you make a good point here, as far as genetics and our families. One thing I hope an understanding of autism and genetics will give people is a deeper understanding of, and empathy for, others in their family (or maybe even themselves) who have autistic-like traits associated with the "broad autism phenotype." By this, I mean things like social anxiety, a detail-oriented/see the trees not the forest processing mode, an obsessive special topic, etc.

Research groups in the US and the UK have over the last few years began to publish results from investigating the prevelance of the 'broad autism phenotype' in the general population. Constantino and Todd have found that autistic-traits in the general population are quite common and widely distributed throughout the general population. They used large samples taken from the Missouri Twin Registry and found that autistic-like traits are mederatly to highly heritable. But that says nothing about autism pre se being heritable. Happe, Ronald and Plomin (2006) in the UK also reported results from a large sample (thousands of twin pairs) who were objectively scored for 'autistic-like traits'. They found that 10% of the total sample possessed one or more autistic-like traits.

The entire concept of the broad autism phenotype was introduced by child psychiatrists who specialize in autism and have observed certain 'traits' in parents that appear to occur commonly within thwir clinics. What they do not see is how common and widespread these traits are in the general population and they may have misinterpreted the actual magnitude of the genetic component in autism.

There are cautionary words in RAJ's post that we should all note, especially as we try to think critically about ASDs. This applies especially to us parents --and, as many of you know, I am one of those, too. Basically...we need to acknowledge that we might tend to "see ASD everywhere" because it is such a vivid and dominant part of our own lives. The same might be said of therapists who treat it all day!

I myself try to be critical about what I think of as "broad autism phenotype" versus simply "eccentric," for example. On the other hand, I think many of us do become adept at "knowing it when we see it." There is a definite quality to the social disconnect that is part of ASD.

Connie (IAN Staff) wrote:

There are cautionary words in RAJ's post that we should all note, especially as we try to think critically about ASDs. This applies especially to us parents --and, as many of you know, I am one of those, too. Basically...we need to acknowledge that we might tend to "see ASD everywhere" because it is such a vivid and dominant part of our own lives. The same might be said of therapists who treat it all day!

I myself try to be critical about what I think of as "broad autism phenotype" versus simply "eccentric," for example. On the other hand, I think many of us do become adept at "knowing it when we see it." There is a definite quality to the social disconnect that is part of ASD.

Here is an example of 'sofa-side' diagnosis that may explain in part the so-called 'autism explosion'.

http://www.latimes.com/features/health/la-he-myturn18jun18,1,3911699.story?coll=la-headlines-health

It certainly would be irresponsible to allow a "lay person" to suggest a diagnosis that should, ideally, require a multidisciplinary team to observe first hand for a period of hours, take developmental history, etc.

This dilution of diagnostic stringency is annoying to those of us whose children truly exhibit the severity of symptoms which justifies an autism diagnosis, but it is hardly surprising.

I'm sure many of us noticed this same tendency with ADD and ADHD "diagnoses" coming from a variety of lay people in the last two decades.

This attitude contributes to the inability of many people to understand and appreciate our difficulties. I've been repeatedly told that my child will "grow out of it" or "be cured" if I would just do this or that, but we need to be responsible and kind in our responses to this as well.

Missbennet, you are so right about how quick people are to say your child "will grow out of it," and that can include professionals!

I had more to worry about than most when my son was very little, speaking of genetics counseling, because I'd had an amnio and knew my child had a chromosomal abnormality --which I am told may have nothing to do with his Asperger's, but still, it existed. Even with that extra issue, my concerns were dismissed by pediatricians at a major children's hospital. One of them used those exact "he'll grow out of it" words. I was not referred on, and my son's diagnosis was delayed for at least another year and a half.

Sadly, I too have had problems with doctors who felt that I was wasting their time. It was very difficult to handle the bitterness I felt about these responses, but these days I have lower expectations of any health professional's response to us. Even the simplest medical task is anything but "routine" for us, so even basic medical care requires an extraordinary amount of compassion from docs and nurses. Therefore, I just clearly communicate what I require from them. If they are willing to provide that, great. If not, I just have to "buck up and move on" as my husband says.

But I do often worry too much when I probably don't need to because docs don't always have as much credibility with me as they perhaps deserve. Anytime a doctor doesn't listen to me (especially regarding my sons' often atypical responses to pain), I have a hard time accepting their conclusions, even when they are appropriate.