Psychiatric Profile in Rubinstein-Taybi Syndrome

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. 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. Sampling and 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). Conclusion: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.

BJORL - Brazilian Journal of Otorhinolaryngology

Frontiers Behavioral and neuropsychiatric challenges across the

Frontiers Behavioral and neuropsychiatric challenges across the

Frontiers Behavioral and neuropsychiatric challenges across the

PDF) Rubinstein-Taybi syndrome medical guidelines

Frontiers Behavioral and neuropsychiatric challenges across the

Ocular symptoms in patients with Rubinstein-Taybi syndrome; 117

Rubinstein-Taybi syndrome with scoliosis – topic of research paper

PDF) Rubinstein-Taybi syndrome: Clinical profile of 11 patients

Epigenetic mechanisms of Rubinstein-Taybi syndrome. - Abstract

Bibliography on Rubinstein‐Taybi syndrome - Hennekam - 1990

Ocular symptoms in patients with Rubinstein-Taybi syndrome; 117