Smith Lemli-Opitz syndrome: A contribution to the delineation of a cognitive/behavioral phenotype

V. De Clemente, G. Vitiello, F. Imperati, A. Romano, I. Parente, M. Rosa, A. Pascarella, G. Parenti, E. Del Giudice

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)61-69
Number of pages9
JournalMinerva Pediatrica
Issue number1
Publication statusPublished - Feb 2013


  • Autistic disorder
  • Phenotypes
  • Smith Lemli-Opitz syndrome

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health


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