The impact of psychiatric disorders in the evolution of patients with Williams-Beuren Syndrome
The impact of psychiatric disorders in the evolution of patients with Williams-Beuren Syndrome

Summary/Abstract: Williams syndrome, also known as Williams-Beuren syndrome, is a rare genetic disorder. Itoccurs in around 1 in 10 000 live births as a result of the de novo deletion on chromosome7q11.23. Recognition of Williams–Beuren syndrome usually starts with the clinician. Patientswith Williams syndrome have a characteristic personality profile being described asoverfriendly, social disinhibited. Frequently, patients with Williams syndrome have asocioemotional profile in which we can observe anxieties and abnormal fears. The mostcommon are the generalized anxiety disorder and some specific phobias, that affect 40 to 50%individuals with Williams syndrome, irrespective of age. Other frequently met behaviorsdescribed in the literature are the difficulties in sensory modulation / sensory processing,emotional regulation, perseveration or certain phobias. Williams syndrome social phenotypesmay open new insights in understanding the genes that regulate the human social behavior,not only for this disease but also for other disorders. Thus, we can think about possiblechanges in performance and mentality in the general population. Also, Williams-Beurensyndrome patients can present cardiovascular disease (elastin arteriopathy, peripheral pulmonary stenosis, supravalvular aortic stenosis, hypertension), connective tissue, growthand endocrine abnormalities (hypercalcemia, hypercalciuria, hypothyroidism).

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