P-05

Long-term follow-up of individuals with Williams-Beuren syndrome: facilitate transition from pediatric medicine to adult medicine (a case report)

Carla Carmona^I; Teresa Saraiva^I; Ana Fortuna^I

^IUnidade de Genética Médica, Centro Genética Médica Doutor Jacinto Magalhães, Centro Hospitalar do Porto - EPE, Porto, Portugal

carla.carmona@chporto.min-saude.pt

Abstract: Williams – Beuren syndrome (WBS; MIM 194050) is a rare neurodevelopmental disorder caused by a chromosomal microdeletion at 7q11.23. It results in specific physical, behavioural, and cognitive abnormalities together with structural and chemical anomalies in the developing brain. The physical phenotype includes growth retardation, a dysmorphic face, heart abnormalities, hyperacusis, infantile hypercalcaemia, and abnormal gait. The neuropsychological profile is a striking one, characterized by strengths in certain complex faculties alongside  marked  and  severe  deficits in cognitive domains. Unlike many others with this kind of difficulties, WBS tends to have a “gregarious” personality, being overly friendly with strangers and lack social judgement skills in general.

Material and Methods: We present  the  results  from the long-term follow-up of a female adult patient aged 39 years, characterizing her physical and neuropsychological development. We also characterize her social and educational context of life.

Results: Our patient revelled during her development the physical and neuropsychological characteristics of individuals with WBS. Albeit she had the neurocognitive deficits profile observed in this syndrome, she always had mental global levels in the “limit” range, allowing her the access to a good level of school and professional training.

We also emphasize the importance of all data collected during her follow-up to facilitate the transition from pediatric medicine to adult medicine and for her adaptation to different contexts of life, namely the social and professional contexts.