Family paediatrician and syndromes in the clinical practice

Key words: Family paediatrician, Disability, Genetic syndrome, Integrated care, Medical device

Background - Children with special health care needs are a new emerging category of patients in the landscape of the modern paediatrics. Discussion regarding the care of these children is very often related to the job of expert centres only. However, it is quite clear that existence of these patients has a big influence also on the activity of primary paediatric care.
Objective and methods - The “burden” of these particular patients is assessed in the daily activity of a general paediatrician through a dedicated questionnaire.
Results - On a cohort of about 100,000 patients, followed by 101 paediatricians, 896 children (1/111 = 0.9%) have a complex clinical disease; most of these patients are affected with a specific genetic syndrome, already diagnosed or only suspected. 0.14% of them (at minimum 1 for every paediatrician) used daily one or more medical devices. Paediatricians need to visit them once in 70 days. The main difficulties reported by the surveyed colleagues in the work with these patients are related to the production of the bureaucratic documentation and to the communication with expert centres or with single specialists.
Conclusions - The survey underlines the great epidemiologic relevance of these “special patients” if considered as a unique category, the substantial role of general paediatricians in their care pathway and the absolute need of improving communication between paediatricians and expert centres.