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 Nowaczyk, Kurt A. Freeman

Research output: Contribution to journalArticle

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.

Original languageEnglish (US)
JournalAmerican Journal of Medical Genetics, Part A
DOIs
StateAccepted/In press - 2017
Externally publishedYes

Fingerprint

Smith-Lemli-Opitz Syndrome
Intellectual Disability
Cholesterol
Genotype
Serum

Keywords

  • Development
  • IQ
  • Smith-Lemli-Opitz

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Eroglu, Y., Nguyen-Driver, M., Steiner, R. D., Merkens, L., Merkens, M., Roullet, J. B., ... Freeman, K. A. (2017). Normal IQ is possible in Smith-Lemli-Opitz syndrome. American Journal of Medical Genetics, Part A. DOI: 10.1002/ajmg.a.38125

Normal IQ is possible in Smith-Lemli-Opitz syndrome. / Eroglu, Yasemen; Nguyen-Driver, Mina; Steiner, Robert D.; Merkens, Louise; Merkens, Mark; Roullet, Jean Baptiste; Elias, Ellen; Sarphare, Geeta; Porter, Forbes D.; Li, Chumei; Tierney, Elaine; Nowaczyk, Małgorzata; Freeman, Kurt A.

In: American Journal of Medical Genetics, Part A, 2017.

Research output: Contribution to journalArticle

Eroglu, Y, Nguyen-Driver, M, Steiner, RD, Merkens, L, Merkens, M, Roullet, JB, Elias, E, Sarphare, G, Porter, FD, Li, C, Tierney, E, Nowaczyk, M & Freeman, KA 2017, 'Normal IQ is possible in Smith-Lemli-Opitz syndrome' American Journal of Medical Genetics, Part A. DOI: 10.1002/ajmg.a.38125
Eroglu Y, Nguyen-Driver M, Steiner RD, Merkens L, Merkens M, Roullet JB et al. Normal IQ is possible in Smith-Lemli-Opitz syndrome. American Journal of Medical Genetics, Part A. 2017. Available from, DOI: 10.1002/ajmg.a.38125

Eroglu, Yasemen; Nguyen-Driver, Mina; Steiner, Robert D.; Merkens, Louise; Merkens, Mark; Roullet, Jean Baptiste; Elias, Ellen; Sarphare, Geeta; Porter, Forbes D.; Li, Chumei; Tierney, Elaine; Nowaczyk, Małgorzata; Freeman, Kurt A. / Normal IQ is possible in Smith-Lemli-Opitz syndrome.

In: American Journal of Medical Genetics, Part A, 2017.

Research output: Contribution to journalArticle

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