Dose-dependent effect of risperidone treatment in a case of 22q13.3 deletion syndrome

作者：Pasini Augusto^*; D'Agati Elisa; Casarelli Livia; Curatolo Paolo

来源：Brain & Development, 2010, 32(5): 425-427.

DOI：10.1016/j.braindev.2009.04.005

• 22q13.3 deletion syndrome
• SHANK3/PROSAP2
• Risperidone treatment

We describe a 18-year-old female with 22q13.3 deletion syndrome characterized by an alteration of SHANK3/PROSAP2 and severe mental retardation, intense psychomotor agitation and aggressive behaviour. When the patient was given risperidone, different therapeutic results were observed: at a 6 mg dose, risperidone had no therapeutic effect and the patient's behavioural problems increased; at a low dose (1 mg), risperidone treatment resulted in rapid improvement of mood and behaviour. Recent findings suggest that risperidone exerts dose-dependent effects on Glu receptors in developing rats. An altered preset of the glutamate receptors, due to the presence of a haploinsufficiency of SHANK3/PROSAP2, could explain the different results of risperidone therapy observed in our patient with 22q13.3 deletion syndrome.

• 出版日期2010-5