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

doi:10.1002/ajmg.a.38125

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 journal › Article › peer-review

5 Scopus citations

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 language	English (US)
Pages (from-to)	2097-2100
Number of pages	4
Journal	American Journal of Medical Genetics, Part A
Volume	173
Issue number	8
DOIs	https://doi.org/10.1002/ajmg.a.38125
State	Published - Aug 2017

Keywords

IQ
Smith-Lemli-Opitz
development

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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10.1002/ajmg.a.38125

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title = "Normal IQ is possible in Smith-Lemli-Opitz syndrome",

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",

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year = "2017",

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doi = "10.1002/ajmg.a.38125",

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AU - Nguyen-Driver, Mina

AU - Steiner, Robert D.

AU - Merkens, Louise

AU - Merkens, Mark

AU - Roullet, Jean Baptiste

AU - Elias, Ellen

AU - Sarphare, Geeta

AU - Porter, Forbes D.

AU - Li, Chumei

AU - Tierney, Elaine

AU - Nowaczyk, Małgorzata J.

AU - Freeman, Kurt A.

PY - 2017/8

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N2 - 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.

AB - 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.

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Normal IQ is possible in Smith-Lemli-Opitz syndrome

Abstract

Keywords

ASJC Scopus subject areas

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