Aim: Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive congenital malformation syndrome caused by an inborn error of cholesterol biosynthesis. The incidence is around 1:20000-1:70000. SLOS phenotype is very broad: severe phenotypes show exitus in perinatal period while milder phenotypes only show behavioral and learning problems. The purpose of this study is to further contribute to the delineation of a cognitive and behavioral phenotype in SLOS.
Methods: Nine patients with SLOS aged between 22 months and 25 years have been followed at the Department of Pediatrics, University of Naples "Federico II" for 2 years. A neuropsychologic study has been carried out in order to assess motor development, adaptive skills, social behavior, communication and language, temperament, aggressive behavior, symptoms typical of autism spectrum disorders (ASDs).
Results: The overall assessment of cognitive/behavioral phenotype showed severe / profound mental retardation in most of them (8/9) with a quite homogeneous neuropsychological profile. The language area was deficient both in expressive and receptive skills. Adaptive skills were in line with mental development. The presence of behavior problems (self-injury and stereotypies) was detected in 6 patients. The study of temperament showed a trend towards a sedentary lifestyle, lack of inhibition against novelty and danger, and reduced interest in the stimuli. None of our patients could be diagnosed as having ASDs.
Conclusion: Although a specific behavioral phenotype for SLOS has gained support in the literature, we believe that many of the features described in individuals with SLOS are common to other mental retardation syndromes.