Monday, November 25, 2019

NO MENTION OF AUTISM!!

So I wasn't going to broach this topic until Jillian made this brilliant statement (for context)
This is what I discovered,,,

“The isolated the Sid Gene because the Amish have a high SIDS rate,,,” [sic]

No, they did not!  

They isolated a gene mutation within the Amish community of Lancaster county, PA that may explain SIDDT, a sub-set of SIDS.

Irish Times article concerning the Amish and SIDS

The premise, from the IT article
A study of high SIDS rates among Amish families, including 21 deaths in only nine family groups, has identified a gene linked to this tragic disorder. Researchers now hope that this new information may help to identify infants at risk of SIDS and alert parents to the possibility that they might pass on the recessive gene that causes at least one form of the disease.
What Jillian ignores
The researchers, led by Dr Erik Puffenberger at the Clinic, identified a recessive gene which when not working correctly was linked to SIDS. The normal gene is involved in the maintenance of normal breathing and heart rate and also in the development before birth of the testes
So I did a bit of digging to get some clarification, this was a newly identified form of SIDS named sudden infant death and dysgenesis of the testes syndrome or SIDDT.  It is a sub-classification

  • Babies must inherit two flawed copies of the gene to develop symptoms, which include organ dysfunction.
  • They die before they are a year old from sudden cardiac and respiratory failure.
  • They found that the baby boys who died of SIDDT lacked developed testes and had a faulty gene (TSPYL) on chromosome six.
  • Girls who died of SIDDT had normal sexual development, although they died at the same age. They too had a defective copy of the TSPYL gene. 

See the recent follow-up study concerning TSPYL

The primary question
"Clearly this gene, when faulty, causes sudden infant death in the Amish," Dr Puffenberger said. "The question is what impact does this gene have for kids in the general population with SIDS. This opens up a new avenue for SIDS research." 
Future ramifications
While the faulty gene was not to blame for all SIDS cases it opened up the possibility of a screening test to help identify babies at risk, stated Dr Dietrich Stephan of the Arizona research group. The researchers also want to test for the gene in non-Amish babies to see how commonplace the disorder is in the general population. 
IOWs, the identification of the mutated gene does not mean there is a cure for SIDS!

Oh and I found the initial paper.  What is important to note from the conclusion

1. [S]tudies of TSPYL expression and function in the developing brain may provide new insight into the genetic basis of apnea, dysphagia, cardiac arrests, and sudden unexplained deaths in infancy. 2. Present clinical evidence suggests that in SIDDT, sudden death may result from dysregulation of the autonomic brainstem systems that control cardiac and pulmonary protective reflexes (14–16). The lethal event may be profound vagally mediated laryngobronchospasm or asystole. 
As well as a recent follow-up study of some interest https://www.ncbi.nlm.nih.gov/pubmed/25449952 

NO MENTION OF AUTISM!!


“SIDS is from fatty acid imbalances!”

Again no!! That is not what the abstract states (nor the paper)!

For our purpose, I believe this may be the relevant passage from the abstract as I am fairly certain she did not read the paper. (Full Text)
GENETIC ALTERATIONS THAT MAY CAUSE SUDDEN INFANT DEATH: Deficiencies in fatty acid metabolism have been extensively studied in cases of SIDS, and by far the most well-investigated mutation is the A985G mutation in the medium-chain acyl-CoA dehydrogenase (MCAD) gene, which is the most prevalent mutation causing MCAD deficiency. However, <1% of sudden infant death cases investigated have this mutation, and findings of biochemical profiles seen in specific fatty acid oxidation disorders in a number of such cases emphasize the importance of investigating fatty acid oxidation disorders other than MCAD deficiency.  
What Jillian so obviously ignored besides the Amish not being mentioned, "less than 1% of sudden infant death cases investigated have this mutation."

When I initially started looking into Jillian's sources, I was going to give her the benefit of the doubt that she “misspoke” when she stated, 
“The [sic] isolated the Sid Gene because the Amish have a high SIDS rate and so there might be a correlation of autism and a cure for SIDS but that has not been substantial you but cures Create disease.”
But upon further review, it became obvious the deceit was intentional.  The conclusion she reaches concerning SIDS and autism where all in her salt baked mind with no scientific backing presented.  Neither paper makes mention of autism.

Plain and simple, Jillian again lied.

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