Smith-Lemli-Opitz Syndrome and Role of Cholesterol in Autism
Bibliographic record
Abstract
Cholesterol is manufactured throughout the body, but predominantly in the liver, and is essential for many metabolic processes. Cholesterol plays a critical role in forming membranes and myelin sheaths and is a precursor molecule for the synthesis of steroid hormones, neuroactive steroids, oxysterols, and vitamin D. It is also essential in the production of bile acids, which in turn helps the body absorb cholesterol and fat-soluble vitamins. Cholesterol is essential in embryonic and fetal development and is also critical in regulating lipid raft processes such as signaling and trafficking (Korade & Kenworthy, 2008). Cholesterol biosynthesis begins with the formation of squalene and ends with the reduction of 7-dehydrocholesterol (7DHC) into cholesterol by the enzyme 7DHC reductase, and then its spontaneous isomer, 8-dehydrocholesterol (8DHC). Smith-Lemli-Opitz syndrome (SLOS, Mendelian Inheritance in Man #270400) is an autosomal recessive disorder due to an inborn error of cholesterol biosynthesis (Elias et al., 1993; Irons, Elias, Salen, Tint, & Batta, 1993; Tint et al., 1994). Smith-Lemli-Opitz syndrome has an estimated incidence among individuals of European ancestry in Canada and the United States of 1 in 15,000 to 1 in 60,000 births (Bzdúch, Behulova, & Skodova, 2000; Lowry & Yong, 1980; Opitz, 1999; Ryan, Bartlett, Clayton, Eaton, Mills, Donnai, & Burn, 1998) and a carrier frequency of 1 in 30 to 1 in 50 (Nowaczyk & Waye, 2001).
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How this classification was reachedexpand
Full frame machine prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.001 |
| Meta-epidemiology (narrow) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.000 |
| Bibliometrics | 0.004 | 0.001 |
| Science and technology studies | 0.001 | 0.001 |
| Scholarly communication | 0.001 | 0.001 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.001 | 0.001 |
| Insufficient payload (model declined to judge) | 0.006 | 0.000 |
Machine scores (provisional)
The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.
Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.
How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".