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. 2022 Apr;58(4):630-635.
doi: 10.1111/jpc.15795. Epub 2021 Nov 12.

Isolated autism is not an indication for Smith-Lemli-Opitz syndrome biochemical testing

Peter A Kaub  1   2 , Peter C Sharp  1 , Enzo Ranieri  1 , Janice M Fletcher  1
Affiliations

Isolated autism is not an indication for Smith-Lemli-Opitz syndrome biochemical testing

Peter A Kaub et al. J Paediatr Child Health. 2022 Apr.

Abstract

Several studies have demonstrated a high incidence of autistic spectrum features in individuals with Smith-Lemli-Opitz syndrome (SLOS). However, do these findings imply a converse relationship that has diagnostic utility? Is SLOS testing implicated when autism spectrum disorder (ASD) is the only clinical indication?

Aim: To determine if there is any correlation with a clinical indication of ASD and a biochemical diagnosis of SLOS, based on historical test request and assay data.

Methods: Six years (2008-2013) of clinical test requests for 7-dehydrocholesterol (7-DHC) level were classified and summarised according to indication and final test result.

Results: From the audit period, 988 valid test results from post-natal samples were identified. In plasma/serum, mean 7-DHC level was 264.7 μmol/L (normal range < 2.0) for confirmed SLOS cases. No tests performed due to an isolated clinical indication of ASD or where no clinical information was supplied were associated with 7-DHC levels diagnostic for SLOS.

Conclusions: Historical test data analysis supports the recommendation that autism/ASD as a single clinical feature is not an appropriate indication for SLOS (7-DHC) biochemical testing.

Keywords: 7-dehydrocholesterol; Smith-Lemli-Opitz syndrome; autism spectrum disorder.

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References

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    1. Wassif CA, Maslen C, Kachilele-Linjewile S et al. Mutations in the human sterol delta7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome. Am. J. Hum. Genet. 1998; 63: 55-62.
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