Psychiatric profile in rubinstein-taybi syndrome. A review and case report

Psychopathology
W M A VerhoevenH G Brunner

Abstract

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

Citations

Nov 20, 2012·Indian Journal of Psychological Medicine·Raghavendra B NayakLohit Somashekar
Nov 20, 2012·Indian Journal of Human Genetics·Suresh KumarRam K Marwaha
May 30, 2012·Congenital Anomalies·Tatsuhiko YagihashiRika Kosaki
May 23, 2015·Nature Reviews. Drug Discovery·Moshe Szyf
Jan 24, 2018·American Journal of Medical Genetics. Part a·Max V BootDaphne de Jong
Sep 21, 2011·Clinical Neuroradiology·S FischerH Henkes
Jan 2, 2014·Neuromolecular Medicine·Elizabeth ParkHoon Ryu
Jul 12, 2017·International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience·Meric A Altinoz, Bahri Ince
Sep 29, 2020·American Journal of Medical Genetics. Part a·Cedrik Tekendo-NgongangPaul Kruszka

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