Psychiatric Profile in Rubinstein-Taybi Syndrome
Por um escritor misterioso
Last updated 20 junho 2024
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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.
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Forgotten Diseases Research Foundation
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Rubinstein-Taybi syndrome with scoliosis – topic of research paper
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The natural history of adults with Rubinstein-Taybi syndrome: a
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Rubinstein-Taybi Syndrome: A case report
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Psychiatric Profile in Rubinstein-Taybi Syndrome
A Case of Rubinstein—Taybi Syndrome: Notes on Some Unusual
Rubinstein Taybi Syndrome - MEDizzy
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Frontiers Behavioral and neuropsychiatric challenges across the
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BJORL - Brazilian Journal of Otorhinolaryngology
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PDF] The behavioural and cognitive phenotype of Rubinstein-Taybi
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From Diagnosis to Management : Rubinstein – Taybi Syndrome
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Loving Leanne: Living with Rubinstein-Taybi Syndrome: Roome
![Psychiatric Profile in Rubinstein-Taybi Syndrome](http://www.findresources.co.uk/uploads/RTS/RTS%20photos/Video%20covers/Introduction.png)
Key Facts
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A Case of Rubinstein-Taybi Syndrome with Tetralogy of Fallot
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