Psychiatric profile in rubinstein-taybi syndrome. A review and case report.
BACKGROUND
The diagnosis of Rubinstein-Taybi syndrome (RTS) is primarily clinical and based on the characteristic phenotype that is often combined with a variety of somatic anomalies and psychiatric disorders.


METHODS
In this paper, a review is presented of the psychiatric and behavioural aspects of RTS. This is illustrated with a case report.


RESULTS
Behavioural aspects of about 150 patients are described, and include a variable degree of mental retardation, impulsivity, distractibility, instability of mood and stereotypies. In general, patients with RTS are described as sociable and friendly. Information about brain pathology is virtually absent. In about half of the cases, the syndrome is caused by a mutation or deletion of the CREB-binding protein (CBP) gene (16p13.3). The case report deals with an adult male who was referred for impulsivity and temper outbursts. A provisional diagnosis of atypical depression was made, and treatment with citalopram resulted in a remarkable amelioration of his mood and behaviour that persisted for more than 2 years (last observation).


CONCLUSIONS
Patients with undetected genetic syndromes do occur in clinical psychiatry, and the clinician has to consider such disorders in cases with disturbed development, dysmorphias and somatic comorbidity.
Verhoeven
W M A
WM
Vincent van Gogh Institute for Psychiatry, Center of Excellence for Neuropsychiatry, Venray, The Netherlands. wverhoeven@vvgi.nl
Tuinier
S
S
Kuijpers
H J H
HJ
Egger
J I M
JI
Brunner
H G
HG
D000328:Adult; D050882:CREB-Binding Protein / Q000235:genetics; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics; D004252:DNA Mutational Analysis; D003866:Depressive Disorder / Q000175:diagnosis* / Q000235:genetics / Q000523:psychology*; D003937:Diagnosis, Differential; D007174:Disruptive, Impulse Control, and Conduct Disorders / Q000175:diagnosis* / Q000235:genetics / Q000523:psychology*; D050881:E1A-Associated p300 Protein / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis* / Q000235:genetics / Q000523:psychology*; D008297:Male; D009483:Neuropsychological Tests / Q000706:statistics & numerical data; D010641:Phenotype; D011594:Psychometrics; D012415:Rubinstein-Taybi Syndrome / Q000175:diagnosis* / Q000235:genetics / Q000523:psychology*
D050882:CREB-Binding Protein; C494363:CREBBP protein, human; D050881:E1A-Associated p300 Protein; C494360:EP300 protein, human