Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2017 Aug;173(8):2097-2100.
doi: 10.1002/ajmg.a.38125. Epub 2017 Mar 27.

Normal IQ is possible in Smith-Lemli-Opitz syndrome

Yasemen Eroglu  1 , Mina Nguyen-Driver  1   2 , Robert D Steiner  1   2   3   4 , Louise Merkens  1 , Mark Merkens  1 , Jean-Baptiste Roullet  1   5 , Ellen Elias  6 , Geeta Sarphare  7 , Forbes D Porter  8 , Chumei Li  9 , Elaine Tierney  7 , Małgorzata J Nowaczyk  9 , Kurt A Freeman  1   2
Affiliations

Normal IQ is possible in Smith-Lemli-Opitz syndrome

Yasemen Eroglu et al. Am J Med Genet A. 2017 Aug.

Abstract

Children with Smith-Lemli-Opitz syndrome (SLOS) are typically reported to have moderate to severe intellectual disability. This study aims to determine whether normal cognitive function is possible in this population and to describe clinical, biochemical and molecular characteristics of children with SLOS and normal intelligent quotient (IQ). The study included children with SLOS who underwent cognitive testing in four centers. All children with at least one IQ composite score above 80 were included in the study. Six girls, three boys with SLOS were found to have normal or low-normal IQ in a cohort of 145 children with SLOS. Major/multiple organ anomalies and low serum cholesterol levels were uncommon. No correlation with IQ and genotype was evident and no specific developmental profile were observed. Thus, normal or low-normal cognitive function is possible in SLOS. Further studies are needed to elucidate factors contributing to normal or low-normal cognitive function in children with SLOS.

Keywords: IQ; Smith-Lemli-Opitz; development.

PubMed Disclaimer

References

    1. Baardman ME, Kerstjens-Frederikse WS, Berger RMF, Bakker MK, Hofstra RMW, Plosch T. The role of maternal-fetal cholesterol transport in early life: Current insights. Biology of Reproduction. 2013;88:241–9. - PubMed
    1. Battaile KP, Battaile BC, Merkens LS, Maslen CL, Steiner RD. Carrier frequency of the common mutation IVS8-1G>C in DHCR7 and estimate of the expected incidence of Smith-Lemli-Opitz syndrome. Molecular Genetics and Metabolism. 2001;72:67–71. - PubMed
    1. Cunniff C, Kratz LE, Moser A, Natowicz MR, Kelley RI. Clinical and biochemical spectrum of individuals with RSH/Smith-Lemli-Opitz syndrome and abnormal cholesterol metabolism. American Journal of Medical Genetics. 1997;68:263–269. - PubMed
    1. DeBarber AE, Eroglu Y, Merkens LS, Pappu AS, Steiner RD. Smith-Lemli-Opitz syndrome (review) Expert Reviews in Molecular Medicine. 2011;13:e24. - PMC - PubMed
    1. Dietschy JM, Turley SD. Cholesterol metabolism in the brain. Current Opinion in Lipidology. 2001;12:105–112. - PubMed

Substances

LinkOut - more resources