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.

Issues in the treatment of mentally retarded patients in the community mental health system.

Developmental disability, particularly mental retardation, both affects a person's cognitive functioning and places that person on an alternative track of development which, when combined with social, political and economic pressures, places the developmentally disabled person at increased risk for mental illness. The presenting symptoms of mental illness will be modified by the mentally retarded person's cognitive impairment, personality development, and massively different life experience, as will the nature of his interactions with helping agencies. Evaluation, diagnosis and treatment must evolve from an alliance with the mentally retarded persons, not with caretaking agencies, and must be modified to take into account the retarded person's powerlessness. The therapist must be prepared to act as both advocate and bridge-builder for the patient, with the patient's increasing participation. The therapist must be prepared to steer between the Scylla of ignorance about the diagnosis and treatment of mental illness in the mentally retarded and the Charybdis of financial disincentives for human service agencies to collaborate in their care. The advantages of inter-agency cooperation in the treatment of dually-diagnosed individuals is described and illustrated.