Rubinstein-Taybi syndrome and psychiatric disorders

Major psychiatric disorders have a complex genetic aetiology. The study of psychiatric phenotypes in individuals with malformation syndromes may allow one to search for the genes that confer an increased risk for the same psychiatric disorders in the general population. The present authors report on the psychiatric evaluations of 13 patients with classic or incomplete features of Rubinstein-Taybi syndrome (RTS), a multiple congenital anomaly syndrome mapped to 16p13.3, whose psychiatric diagnoses fell within a consistent spectrum, suggesting a possible relationship between RTS and these psychiatric disorders. The diagnoses clustered into mood disorders and the tic/obsessive compulsive disorder (OCD) spectrum; all tic/OCD diagnoses occurred in patients with classical RTS. It was of interest that neuroleptic-induced movement disorders and neuroleptic malignant syndrome were common. While no conclusions can be drawn about the prevalence of psychiatric disorders in RTS, the pattern of psychiatric diagnoses in these patients appear non-random, and the occurrence and severity of neuroleptic side-effects is striking. Given the suspected relationship of these complications with the serotonergic and dopaminergic systems, the present authors suggest that the gene locus for RTS should be investigated for genes related to the regulation of these neurotransmitters.