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

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.

Steroid-induced improvement of neurological signs in ataxia-telangiectasia patients.

A recent clinical observation reported on a dramatic improvement of neurological symptoms following short-term betamethasone administration in a child affected with ataxia-teleangiectasia (A-T). The aim of this study was to extend this observation to additional A-T patients followed at a single Immunodeficiency Center. Six consecutive patients (three males; mean age 16.3 years, range 5-30 years) were enrolled into this monocentric before-after trial. A cycle of oral betamethasone at the dosage of 0.1 mg/kg/day was administered for 10 days. The neurological evaluation was performed through the Scale for the Assessment and Rating of Ataxia. Overall, five of the six patients exhibited a clear amelioration of the neurological performances. Only in two patients, a slight amelioration persisted 7 days after the therapy withdrawal, whilst in the other patients the score reached approximately the pre-treatment value at the end of the therapy. Twenty-eight of the 46 evaluated neurological items (60%) improved during therapy. The speech disturbance, finger chase and nose-finger test showed the more significant improvement. The clinical amelioration was inversely correlated with the level of cerebellum atrophy, as revealed by the magnetic resonance. Our data indicate that neurological signs in A-T are susceptible of beneficial pharmacological intervention even years after the disease onset.