How Do "Rare" Mutations Cause an Epidemic? Autism and Genes. Again.
By Teresa Conrick
Since the end of the “Refrigerator Mother” nightmare, the fanciful search for THE Autism Gene has been ridiculous and expensive. It has never been found since its very profitable start in the 1970’s, yet here we are in 2015 and STILL we are bombarded with headlines and deceptive phrases to keep the money flowing to this cash cow. Studies like this recent one attempt to paint a false picture of Autism:
Genetic analysis: Rare mutations cause half of all autism cases, Sept. 22, 2015
…Researchers analyzed data on ASD patients and their families collected as part of the Simons Simplex Collection, finding there are about 200 "candidate" autism genes that may be vulnerable to the mutations…Genes considered vulnerable harbor what the researchers refer to as likely gene-disruption, or LGD. LGD spontaneous mutations occur between generations, and researchers said they were often carried by the mother and passed down…Such mutations are often not passed on, as most people with severe ASD do not reproduce…
How absurd and speculative -- HALF of all AUTISM cases? LGD sounds like a lot of BS and another blame the MOTHER? If anything, this type of research has detoured from the true factors of Autism. Let’s take a peek at some past gene research on Autism. There are some tiny glimmers of reality yet the amount of time studying genes solely and the money invested has done NOTHING to prevent Autism, or to treat so many who suffer from severe gastrointestinal issues, seizures, mitochondrial dysfunction, encephalopathy, allergies, and immune system abnormalities.
AUTISM GENE RESEARCH THEN AND NOW
A Twin Study of Individuals with Infantile Autism, Autism – 1978
…it is decidedly unusual for a family to contain more than one autistic child…Second, autism is a very uncommon disorder occurring in only about two to four children out of every 10,000…
Journal of Autism and Developmental Disorders, Vol. 18, No1, 1988
Age of onset does not, however, help us predict the nature of etiology. Infections can have either immediate effects (as in congenital rubella) or delayed effects (as in postencephalatic
American Journal of Medical Genetics 3685-88 (1990)
This finding indicates that a single-gene model is unlikely to account for most cases of autism.
Behavioral Genetics, 1997
Although environmental risk factors are considered negligible in AD [Autistic Disorder],….Abnormal T-cell functions, an HLA association, and high rates of minor physical anomalies have led to the hypothesis that AD may in some cases result from an autoimmune response perhaps in response to early exposure to pathogens…
Autism: genetics, May 2006
Autism is a strongly genetic disorder, with an estimated heritability of greater than 90%. A combination of phenotypic heterogeneity and the likely involvement of multiple interacting loci have hampered efforts at gene discovery. As a consequence, the genetic etiology of the spectrum of autism related disorders remains largely unknown….
Autism study downplays role of genetics, July 05, 2011
The analysis, which runs counter to decades of research, says environmental factors may be more important than genes in determining whether a child develops autism.
Study Suggests Most Autism Risk Comes from Common Genetic Variation, July 20, 2014
Today, most experts agree that autism is typically caused by a combination of genetics and “environmental” influences. By environmental, scientists mean a range of nongenetic factors including stress, inflammation and toxic exposures during early brain development. However, there has been little consensus on how much genes versus environment contribute to autism. Even the genetic portion of the risk has turned out to be extremely complex…
IS IT REALLY THAT COMPLEX?
I am a big believer in the MICROBIOME as both LOCK then KEY for many with an AUTISM diagnosis. My daughter’s descent into Autism came after receiving vaccines. Her health declined as her immune system began to not function and she had increased infections, such as chronic ear infections, Strep, Giardia, Clostridium, fungal infections, rashes, and “viral infections” of the gut, as our pediatrician called them. Antibiotics were given, one after the other as her body was just not able to clear these bad guy pathogens. We can see a pattern with MANY of our children:
VACCINES > Immune Dysfunction> Antibiotics > Microbiome Regression > AUTISM
In 2008, IAN (Interactive Autism Network), did some research on Regression and Autism. The conclusion, 49% of the parents reported on REGRESSION in their children. There has not been any research on this extremely important topic since -- 7 years! Why?
Let’s take a look at Megan’s regression from the doctor notes in her chart:
3/2/93 - Birth - Hepatitis B vaccine at hospital
3/26/93 - VACCINES
5/21/93 - VACCINES
7/10/93 - VACCINES
9/10/93 - VACCINES
10/22/93 - VACCINES
12/7/93 - Diaper rash (YEAST) for 6 weeks - ear infection - antibiotics
12/28/93 - Ear infection - antibiotics
1/17/94 - Ear infection -antibiotics
3/21/94 - Virus - antibiotics
5/11/94 - Virus - antibiotics
6/3/94 - Loose stool - rash - ear infection- antibiotics
6/18/94 - VACCINES (Including MMR vaccine)
6/28/94 - Fever- rash on body for 10 days - ear infection - antibiotics
7/11/94 - Ear infection - antibiotics
8/22/94 - On vacation in WI and became sick. Not happy - crying - lethargic - Dr. there unsure why.
9/9/94 - Rash - loose stools - VACCINES
10/17/94 - Vomiting - diarrhea
11/1/94 - 103 fever - virus
5/23/95 - Irritable - nosebleeds
10/9/95 - Not talking/Lost eye contact – PDD (PERVASIVE DEVELOPMENTAL DISORDER) dx
11/27/95 - Temp. - not eating/sleeping - ear infection - antibiotics
12/19/95 - 103 fever - crying for 2 days - ear infection - antibiotics
12/21/95 - Waking at night - crying - acute bowel - Donnagel
12/28/95 - Re-check - right ot media - antibiotics
1/25/96 - Ear infection - antibiotics
2/8/96 - Re-check - unhappy- crying - nosebleeds - antibiotics - nosespray
2/29/96 - Check up - nosebleeds x5 - iron for anemia
3/26/96 - 104 Fever - Zithromax
4/8/96 - Re-check - pulling on ears but no ot media
4/23/96 - Waking at night - no ot media - "sleep problems
6/10/96 - 2x nosebleeds - 102 temp - nose spray - antibiotics
6/26/96 - Fever - antibiotics
9/3/96 - Poor appetite - antibiotics
10/23/96 - Pharyngitis - severe - temp - antibiotics
1/4/97 - Congestion - cough - antibiotics
3/4/97 - Pulling on ears - Claritin
3/10/97 - VACCINE
5/9/97 - Rash on face - allergy?
5/13/97 - Swollen finger - antibiotics
7/29/97 - Not eating well - nothing found
8/7/97 - Rash on back - irritable
9/8/97 - Fever 3-4 days - rash on face - virus
3/19/98 - Diarrhea/vomiting x 10 days - fever on/off – antibiotics
These heartbreaking photos show Meg’s regression.
Her inability to fight infections continues with the added intensity of seizures at age 16 and then an autoimmune diagnosis at age 18.
What is paradoxical and is being researched more is that ANTIBIOTICS and PROBIOTICS, have helped Meg immensely now and others as well Treating Autism With Antibiotics (France 3 19/20, Feb 17, 2012) . That is a sure sign that these children have chronic infections that are producing toxic metabolites. Intestinal bacteria produce numerous metabolites with potential encephalotoxicity. Can you see it in the third photo of Megan? It is devastating.
ACCURATE GENE RESEARCH TODAY AND THE MICROBIOME
Good science and researchers are showing us the pathway of how genes and the microbiome interact:
Early Research Points to Autism-Microbiome Link, Aug 2015
Propionic acid and some other SCFAs may interfere with mitochondrial metabolism….which is notable because mitochondrial disease is thought to be a contributing factor in the pathophysiology of autism (Transl Psychiatry 2013;3:e220). Furthermore, certain SCFAs have an epigenetic effect and can switch on and off genes involved in biological pathways implicated in autism (PLoS One 2014;9:e103740).
The human genome codes for approximately 23,000 genes,1 yet some experts have suggested that the total information coded by the human genome alone is not enough to carry out all of the body’s biological functions.2 A growing number of studies suggest that part of what determines how the human body functions may be not only our own genes, but also the genes of the trillions of microorganisms that reside on and in our bodies…
…researchers are beginning to decipher how the microorganisms of the human intestinal tract influence biological functions beyond the gut and play a role in immunological, metabolic, and neurological diseases......The genomes of the bacteria and viruses of the human gut alone are thought to encode 3.3 million genes, which could supplement the human genome in determining how the body functions.....
Microbiome research heralds new era of medical diagnosis, May 24, 2015
It turns out that no human genome is an island unto itself, rather it functions in concert with thousands of bacteria genomes living on and within it. And for the majority of people, the different varieties and concentrations of these bacteria has a lot more to do with health than the details of their personal genome. Relatively few people suffer from debilitating genetic disorders, while millions of people the world over will suffer sickness or worse from having the wrong bacteria living inside them, or even the right bacteria but in the wrong quantity.
As we can see, the genes within our bodies have much more to do with the genes of the microbiome. The search for genes in Autism needs to end and the money saved can go into proper research on REGRESSION and AUTISM. It is very probable that in the past years, more and more toddlers have regressed. Where is the concern for this tragedy?
The NYT actually had some good commentary on this new concept of the microbiome being important in Autism, more so than genes - It seems plausible, if not yet proved, that we might one day use microbes to diagnose neurodevelopmental disorders, treat mental illnesses and perhaps even fix them in the brain…Changing a patient’s bacteria might be difficult but it still seemed more straightforward than altering his genes.
Teresa Conrick is Contributing Editor to Age of Autism.
Thank you for your comment and link Carol. I wish researchers would stop pouring money down the gene hole. We may be blocked from commenting on vaccines, but surely we can comment about the money that continues to be wasted on researching autism genes. Step one: stop the diversion.
Posted by: Beleaguered Autism Mom | July 26, 2019 at 08:28 PM
"Although researchers have made tremendous strides in defining genes associated with autism, a study designed to find genes that solely relate to autism has failed.
The study was launched because of recent discoveries that tie autism with heterogeneous sources of genetic risk.
This discovery that a variety of genes are linked to autism lead researchers to believe that a review of patients with very similar clinical features, or phenotype, might result in a 'purer,' i.e., more genetically homogenous, group of patients, making it easier to find autism-related genes.
Unfortunately, as discussed in the journal Biological Psychiatry, study findings do not support the theory.
For the study, a large group of collaborating scientists used data from the Simons Simplex Collection, a project that extensively characterized 2576 autism simplex families – the largest data set amassed to date....
Their results did not identify any genome-wide significant associations in the overall sample or in the phenotypic subgroups. This means that the extreme clinical variability observed among patients with autism spectrum disorder does not closely reflect common genetic variation.
'This study did not provide good evidence that selecting patients with similar symptoms results in a greater ability to find autism genes,' said Dr. John Krystal, Editor of Biological Psychiatry.
'This might suggest that some of the clinical variability in autism arises from causes other than genetic vulnerability, such as epigenetic changes or other responses to the environment.'"
https://psychcentral.com/news/2015/04/21/research-fails-to-uncover-pure-autism-genes/83746.html
Posted by: Carol | July 26, 2019 at 04:25 PM
Danchi, I think that the research you refer to was published in July. There is another write-up of the research that has an interesting quote from one of the authors:
“For years, many parents have told us that their children with ASD have severe abdominal pain and gastrointestinal symptoms,” says Kohane, recently appointed the inaugural chair of the Department of Biomedical Informatics at Harvard Medical School. “From these population studies, larger than any to date, we find solid and reproducible evidence that the parents were right—as usual. Based on the data I’ve seen, I suspect we will soon be able to define several distinct subtypes of ASD-associated bowel diseases.”
My link may not work, but here's my attempt:
researhttp://vector.childrenshospital.org/2015/08/the-autism-gi-link-inflammatory-bowel-disease-found-more-prevalent-in-asd-patients/
Posted by: Betty Bona | October 01, 2015 at 11:18 AM
Considering most of the immune system is in the gut, this makes sense.
**************
Or .... they're just trying to draw yet another unsubstantiated conclusion. To distract the world from the basic, simple truth that vaccines cause autism.
Not saying gut problems aren't a part of autism, because they are for most who have been granted the Dx.
Just saying that gut problems, in and of itself, is a form of vaccine damage. Common to the cluster of vaccine damages, that doctors much prefer we call autism.
Posted by: Barry | September 30, 2015 at 09:19 PM
That is quite a five-year chart Teresa.
Probably a million others similar to it...
Posted by: cmo | September 30, 2015 at 07:46 PM
Found this very interesting article today:
*Patients with autism spectrum disorders have increased prevalence of IBD.
www.healio.com/gastroenterology/inflammatory-bowel-disease/news/online/%7Bd3aefe1e-4870-4e84-9c76-f174c17f3ddf%7D/patients-with-autism-spectrum-disorders-have-increased-prevalence-of-ibd
Doshi-Velez F, et al. Inflamm Bowel Dis . 2015;doi:10.1097/MIB.0000000000000502 . September 28, 2015
In the Journals
Doshi-Velez F, et al. Inflamm Bowel Dis. 2015;doi:10.1097/MIB.0000000000000502.
September 28, 2015
Researchers found a significantly increased prevalence of inflammatory bowel disease among patients with autism spectrum disorders in a recent study.
“To our knowledge, this work comprises the largest group of [autism spectrum disorder] patient studies for IBD prevalence,” the researchers wrote.
They looked for reproducible differences in IBD rates among patients with autism spectrum disorders (ASDs) using 2009 to 2013 nationwide claims data from the Aetna database (ASD, n = 52,270; controls, n = 7,151,925), data from Boston Children’s Hospital (ASD, n = 7,201; controls, n = 594,684), Wake Forest Baptist Medical Center (ASD, n = 1,555; controls, n = 203,084) and the Simons Simplex Consortium, a North American ASD registry (ASD, n = 2,728).
First, they compared patients with and without ASDs within each study population, then combined the comparisons with a meta-analysis. They also compared diagnoses from the Boston Children’s Hospital and Simons Simplex Consortium populations, which were expert-verified, and compared them with nationally reported pediatric IBD rates, as well.
They found significantly increased rates of IBD-related ICD-9-CM codes among patients with ASDs compared with controls in all case-control study populations collectively (P < .001), and in the Aetna (P < .001) and Boston Children’s populations individually (P = .01).
Seven ASD patients in the Simons Simplex Consortium population had expert-verified IBD, and 16 of 32 patients with codes for both IBD and ASD in the Boston Children’s population had expert-verified IBD. The age-adjusted prevalence of expert-verified IBD among patients with ASDs was significantly higher than nationally reported rates (P < .001, P < .0219).
“Across each population with different kinds of ascertainment, there was a consistent and statistically significant increased prevalence of IBD in patients with ASD than their respective controls and nationally reported rates for pediatric IBD,” the researchers concluded. “These results lend further evidence for an association between IBD and ASD.” – by Adam Leitenberger
Disclosures: The researchers report no relevant financial disclosures.
Considering most of the immune system is in the gut, this makes sense.
Posted by: Danchi | September 30, 2015 at 05:41 PM