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.

IJMS, Free Full-Text

Frontiers Behavioral and neuropsychiatric challenges across the

Rubinstein–Taybi syndrome in diverse populations - Tekendo

Rubinstein-Taybi Syndrome: A case report

ERG values of 24 patients with Rubinstein-Taybi syndrome

PDF) Rubinstein-Taybi syndrome medical guidelines

Rubinstein–Taybi syndrome: clinical and molecular overview

IJMS, Free Full-Text

Rubinstein–Taybi syndrome - Wikipedia

Facial dysmorphism, skeletal anomalies, congenital glucoma