Quantitative Evaluation of the Clinical Effects of S-Adenosylmethionine on Mood and Behavior in Lesch-Nyhan Patients |
| |
| Authors: | Diego Dolcetta Pietro Parmigiani Luigi Salmaso Roberta Bernardelle Ugo Cesari Gilberto Andrighetto |
| |
| Institution: | 1. B.I.R.D., Research Labs, Via B. Bizio 1, Costozza di Longare , Vicenza , Italy;2. B.I.R.D., Clinical dep., Via B. Bizio 1, Costozza di Longare , Vicenza , Italy;3. Department of Management and Engineering, University of Padua , Vicenza , Italy;4. B.I.R.D., Rehabilitation, Via B. Bizio 1, Costozza di Longare , Vicenza , Italy;5. Università Federico II, Department of Otorhinolaringology , Napoli , Italy |
| |
| Abstract: | Background, rationale, and methods . Lesch-Nyhan disease is a rare, X-linked disorder due to hypoxanthine phosphoribosyltransferase deficiency. To evaluate reported benefit on mood and behavior obtained by the administration of S-adenosyl-l-methionine in this condition, we developed 2 quantitative evaluation tools, and used them to assess the effects of the drug in our population: the weekly questionnaire and the resistance to self-injurious behavior test. We performed an open-label, dose-escalation trial of the drug on 14 patients. Results. Four patients tolerated the drug and reported beneficial effects. The majority experienced worsened behavior. The 2 assessment tools demonstrated effectiveness in quantitatively evaluating the self-injurious behavior. |
| |
| Keywords: | S-adenosylmethionine Lesch-Nyhan disease weekly questionnaire resistance to self-injurious behavior test resistance to heteroinjurious behavior test |
|
|
