Logo image
Back
Normal IQ is possible in Smith-Lemli-Opitz syndrome
Journal article   Peer reviewed

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, …
American journal of medical genetics. Part A, Vol.173(8), pp.2097-2100
08/2017
DOI: 10.1002/ajmg.a.38125
PMCID: PMC6016830
PMID: 28349652
url
https://www.ncbi.nlm.nih.gov/pmc/articles/6016830View
Open Access

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.
 Abnormalities, Multiple - genetics Abnormalities, Multiple - physiopathology Adolescent Child Child, Preschool Cognition - physiology Female Genotype Humans Infant Infant, Newborn Intelligence Tests Male Oxidoreductases Acting on CH-CH Group Donors - genetics Smith-Lemli-Opitz Syndrome - genetics Smith-Lemli-Opitz Syndrome - physiopathology

Details

Metrics

5 Record Views
6 Times Cited - Web of Science
Logo image