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Normal IQ is possible in Smith-Lemli-Opitz syndrome
Yasemen Eroglu1, Mina Nguyen-Driver1,2, Robert D Steiner1,2,3,4
1Department of Pediatrics, Oregon Health and Science University, Portland, Oregon.
American Journal of Medical Genetics. Part A
|March 29, 2017
Summary
Normal cognitive function is possible in children with Smith-Lemli-Opitz syndrome (SLOS). This study identified individuals with SLOS and normal or low-normal IQ, challenging previous assumptions about intellectual disability in this genetic disorder.
Area of Science:
- Genetics
- Neurodevelopmental Disorders
- Metabolic Disorders
Background:
- Smith-Lemli-Opitz syndrome (SLOS) is a genetic disorder typically associated with moderate to severe intellectual disability.
- Previous research has largely focused on the cognitive impairments in SLOS, with limited exploration of cognitive variability.
Purpose of the Study:
- To investigate the possibility of normal cognitive function in children with SLOS.
- To characterize the clinical, biochemical, and molecular profiles of SLOS patients with normal or low-normal intelligence quotient (IQ).
Main Methods:
- A cohort of 145 children diagnosed with SLOS across four centers was analyzed.
- Cognitive testing was performed, and individuals with at least one IQ composite score above 80 were included.
- Clinical data, serum cholesterol levels, and genotypic information were collected and correlated with IQ.
Main Results:
- Nine children (six girls, three boys) with SLOS exhibited normal or low-normal IQ (composite score > 80).
- Major organ anomalies and severely low serum cholesterol were infrequent in this subgroup.
- No significant correlation was found between IQ and genotype, nor was a specific developmental profile observed.
Conclusions:
- Normal or low-normal cognitive function can occur in individuals with Smith-Lemli-Opitz syndrome.
- Cognitive outcomes in SLOS may be more variable than previously understood.
- Further research is warranted to identify factors influencing cognitive potential in SLOS.
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