El equipo de neurodesarrollo en la sospecha clínica del Síndrome de Williams (SW): reporte de caso

Abstract

Introduction: in the diagnostic process of chil-dren with Global Developmental Delay (GDD) is the identification of malformations and referral to specialists to determine the genetic syndrome that guides the intervention and prognosis.Clinical case: a 5-year-old boy diagnosed by the neurodevelopment team (pediatrician, early stim-ulator, speech therapist, physiotherapist) of GDD caused by attention problems, neurological alter-ation, food selectivity, oropharyngeal dysphagia. In addition, due to severe thinness, facial charac-teristics, severe supravalvular aortic stenosis with hypoplasia of the aortic arch, Williams Syndrome (WS) is considered highly suspected, a confirmato-ry examination was requested, the FISH test, which is not performed due to limitations in the portfolio of services of the Ecuadorian State. Therapeutic plan: cardiological treatment; neurodevelopment inter-vention plan: stimulation of activities of daily living, improvement of communication skills, introduction of new foods in textures and flavors, optimization of independence in mobilization, strengthening of parental skills and periodic evaluations.Conclusions: the participation of the neurodevel-opment team is essential to provide comprehensive care to patients with WS; collaboration between different professionals with diverse knowledge and perspectives can improve the quality of the diagno-sis and increase the chances of success in the in-tervention. There were limitations in confirming the diagnosis due to the absence of determination of the FISH test in the portfolio of services in the state health care system.