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.
authors.affiliation: Department of Pediatrics, Oregon Health and Science University, Portland, Oregon.
authors.forename: Yasemen
authors.identifier: http://orcid.org/0000-0002-7874-7003
authors.initials: Y
authors.lastname: Eroglu
authors.affiliation: Department of Pediatrics, Oregon Health and Science University, Portland, Oregon.|Institute on Development and Disability, Oregon Health and Science University, Portland, Oregon.
authors.forename: Mina
authors.initials: M
authors.lastname: Nguyen-Driver
authors.affiliation: Department of Pediatrics, Oregon Health and Science University, Portland, Oregon.|Institute on Development and Disability, Oregon Health and Science University, Portland, Oregon.|Department of Molecular and Medical Genetics, Institute on Development and Disability, Doernbecher Children's Hospital, Portland, Oregon.|Department of Pediatrics, University of Wisconsin, Madison, Wisconsin.
authors.forename: Robert D
authors.initials: RD
authors.lastname: Steiner
authors.affiliation: Department of Pediatrics, Oregon Health and Science University, Portland, Oregon.
authors.forename: Louise
authors.initials: L
authors.lastname: Merkens
authors.affiliation: Department of Pediatrics, Oregon Health and Science University, Portland, Oregon.
authors.forename: Mark
authors.initials: M
authors.lastname: Merkens
authors.affiliation: Department of Pediatrics, Oregon Health and Science University, Portland, Oregon.|Department of Experimental and Systems Pharmacology, College of Pharmacy, Washington State University, Spokane, Washington.
authors.forename: Jean-Baptiste
authors.initials: JB
authors.lastname: Roullet
authors.affiliation: Children's Hospital Colorado, Aurora, Colorado.
authors.forename: Ellen
authors.initials: E
authors.lastname: Elias
authors.affiliation: Kennedy Krieger Institute, Baltimore, Maryland.
authors.forename: Geeta
authors.initials: G
authors.lastname: Sarphare
authors.affiliation: Program in Developmental Endocrinology and Genetics, Eunice Kennedy Shriver National Institution of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland.
authors.forename: Forbes D
authors.initials: FD
authors.lastname: Porter
authors.affiliation: Department of Pathology and Medicine, and Pediatrics, McMaster University, Hamilton, ON, Canada.
authors.forename: Chumei
authors.initials: C
authors.lastname: Li
authors.affiliation: Kennedy Krieger Institute, Baltimore, Maryland.
authors.forename: Elaine
authors.initials: E
authors.lastname: Tierney
authors.affiliation: Department of Pathology and Medicine, and Pediatrics, McMaster University, Hamilton, ON, Canada.
authors.forename: Małgorzata J
authors.initials: MJ
authors.lastname: Nowaczyk
authors.affiliation: Department of Pediatrics, Oregon Health and Science University, Portland, Oregon.|Institute on Development and Disability, Oregon Health and Science University, Portland, Oregon.
authors.forename: Kurt A
authors.initials: KA
authors.lastname: Freeman
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics / Q000503:physiopathology*; D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D003071:Cognition / Q000502:physiology*; D005260:Female; D005838:Genotype; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007361:Intelligence Tests; D008297:Male; D044925:Oxidoreductases Acting on CH-CH Group Donors / Q000235:genetics; D019082:Smith-Lemli-Opitz Syndrome / Q000235:genetics / Q000503:physiopathology*
chemical_list: D044925:Oxidoreductases Acting on CH-CH Group Donors; C019995:7-dehydrocholesterol reductase
keywords: IQ; Smith-Lemli-Opitz; development