Ho appena ricevuto la seguente segnalazione dal collega Nicola Panocchia su autismo e colesterolo che giro alla lista. Sarei interessata a conoscere se qualche iscritto alla lista ha esperienza di Smith-Lemli-Opitz syndrome (SLOS)
Ecco l'abstract dell'interessante lavoro
Int Rev Psychiatry. 2008 Apr;20(2):165-70.
Autism: the role of cholesterol in treatment.
Aneja A, Tierney E.
Department of Psychiatry and Behavioral Sciences, Division of Child and Adolescent Psychiatry, Johns Hopkins University School of Medicine, and Department of Psychiatry, Kennedy Krieger Institute, Baltimore, MD 21211, USA. aneja(a)kennedykrieger.org
Cholesterol is essential for neuroactive steroid production, growth of myelin membranes, and normal embryonic and fetal development. It also modulates the oxytocin receptor, ligand activity and G-protein coupling of the serotonin-1A receptor. A deficit of cholesterol may perturb these biological mechanisms and thereby contribute to autism spectrum disorders (ASDs), as observed in Smith-Lemli-Opitz syndrome (SLOS) and some subjects with ASDs in the Autism Genetic Resource Exchange (AGRE). A clinical diagnosis of SLOS can be confirmed by laboratory testing with an elevated plasma 7DHC level relative to the cholesterol level and is treatable by dietary cholesterol supplementation. Individuals with SLOS who have such cholesterol treatment display fewer autistic behaviours, infections, and symptoms of irritability and hyperactivity, with improvements in physical growth, sleep and social interactions. Other behaviours shown to improve with cholesterol
supplementation include aggressive behaviours, self-injury, temper outbursts and trichotillomania. Cholesterol ought to be considered as a helpful treatment approach while awaiting an improved understanding of cholesterol metabolism and ASD. There is an increasing recognition that this single-gene disorder of abnormal cholesterol synthesis may be a model for understanding genetic causes of autism and the role of cholesterol in ASD.
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