Dose-dependent effect of risperidone treatment in a case of 22q13.3 deletion syndrome.
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 (1mg), 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.
Department of Neuroscience, University of Rome Tor Vergata, Roma, Italy. pasini@uniroma2.it
Augusto
A
Pasini
Elisa
E
D'Agati
Livia
L
Casarelli
Paolo
P
Curatolo
D000015:Abnormalities, Multiple / Q000188:drug therapy; D000293:Adolescent; D000374:Aggression / Q000187:drug effects*; D000818:Animals; D014150:Antipsychotic Agents / Q000494:pharmacology / Q000627:therapeutic use; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D004305:Dose-Response Relationship, Drug; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000188:drug therapy*; D008297:Male; D011247:Pregnancy; D011595:Psychomotor Agitation / Q000188:drug therapy*; D051381:Rats; D018967:Risperidone / Q000494:pharmacology / Q000627:therapeutic use; D013577:Syndrome
D014150:Antipsychotic Agents; D018967:Risperidone