An adult female with congenital Rubinstein-Taybi syndrome (RTS) and severe mental retardation is described, who presented with symptoms of severe over-activity, short attention span, mood lability, and aggressive outbursts in a cyclical pattern, suggestive of recurrent manic-like episodes. These symptoms improved significantly with divalproex (Depakote) monotherapy. Review of the existing studies showed that 10-76% of persons with RTS may be identified with similar behavioral symptoms.
Social cognition and repetitive behavior in RTS
Dr. Hayley Crawford and Dr. Jane Waite are describing their work with people with Rubinstein-Taybi syndrome.
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Cerebra Centre for Neurodevelopmental Disorders, University of Birmingham
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Rubinstein-Taybi syndrome is a congenital anomaly characterized by broad thumbs and first toes facial abnormalities, and mental lietardation. Cardiac anomalies are frequently preset. I predicted that "Succinylcholine ... might cause arrhythmia in patients with Rubinstein-Taybi syndrome". Recently, I once again anesthetized the patient with Rubinstein-Taybi syndrome whom I had earlier described in some detail. The patient, now 14 years old and weighing 22 kg, was admitted to the hospital on the morning of scheduled restorative dentistry.
In this video Dr Hayley Crawford gives some hints and tips for managing social vulnerability in people with Rubinstein-Taybi syndrome.
Dr Jane Waite describes hints and tips for managing repetitive behaviour.
Rubinstein-Taybi syndrome (RTS) is a rare autosomal dominant disorder that occurs due to a microdeletion of chromosome 16p13. The craniofacial abnormalities in these patients may pose a challenge for anaesthetist performing tracheal intubation. However, there are no known reported cases of drug interaction with non-depolarising muscle relaxant in patients with RTS. This young patient with RTS presented with an unexpected prolonged atracurium effect during the course of anaesthesia.
Floating-Harbor Syndrome (FHS; OMIM #136140) is an ultra-rare autosomal dominant genetic condition characterized by expressive language delay, short stature with delayed bone mineralization, a triangular face with a prominent nose, and deep-set eyes, and hand anomalies. First reported in 1973, FHS is associated with mutations in the SRCAP gene, which encodes SNF2-related CREBBP activator protein.
The clinical features of RSTS have been extensively studied, which significantly contributes to the diagnosis of this extremely rare syndrome. However, the pathogenesis and genotype-phenotype associations of RSTS are largely unknown. Therefore, multicenter studies and international cooperation are highlighted for better understanding of this disease, establishing standard diagnostic criteria, and providing professional management and follow-up care of RSTS.
Genetic aetiology remains unknown in up to 50% of patients with persistent hyperinsulinaemic hypoglycaemia (HH). Several syndromes are associated with HH. We report Rubinstein-Taybi syndrome (RSTS) as one of the possible causes of persistent HH. Early diagnosis and treatment of HH is crucial to prevent hypoglycaemic brain injury. Design: Four RSTS patients with HH were retrospectively analysed. Methods: Genetic investigations included next generation sequencing-based gene panels and exome sequencing.