Normal IQ is possible in Smith-Lemli-Opitz syndrome

Yasemen Eroglu, Mina Nguyen-Driver, Robert D. Steiner, Louise Merkens, Mark Merkens, Jean Baptiste Roullet, Ellen Elias, Geeta Sarphare, Forbes D. Porter, Chumei Li, Elaine Tierney, Małgorzata J. Nowaczyk, Kurt A. Freeman

Research output: Contribution to journalArticlepeer-review

4 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)2097-2100
Number of pages4
JournalAmerican Journal of Medical Genetics, Part A
Issue number8
StatePublished - Aug 2017


  • IQ
  • Smith-Lemli-Opitz
  • development

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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