Le sindromi nell'esperienza ambulatoriale.

Translated title of the contribution: Syndromes in outpatient experience

F. Lalatta, A. Selicorni, V. Briscioli

Research output: Contribution to journalArticlepeer-review

Abstract

We report our experience as clinical geneticists and pediatricians in the management of patients affected by multiple congenital malformations and genetic syndromes. Our aim is to demonstrate that etiological diagnosis, crucial for successful management and counselling, has to be considered the first step in the care of these patients and their families. Coordination of medical interventions, clinical follow-up and psychosocial support have to be included in every out-patient program in this field. Diagnostic approach has to be carried out through a specific methodology which includes extensive clinical expertise in dealing with children affected by multiple congenital anomalies, protocols for major clinical problems, facilities for specific investigations (cytogenetic laboratory, molecular genetics, ecc.), computerized programs for recognising rare syndromes, network of motivated specialists (neurology, ophthalmology, orthopedics, etc.) and possibility of collegial discussion of undiagnosed patients. Psychosocial support and follow-up have to be achieved through trained professionals. Our 5 years of experience in this field (1420 patients) suggest the need for an organized network of services. This could provide the families of children affected by genetic syndromes with a comprehensive management and support program which is lacking in the present health care system.

Translated title of the contributionSyndromes in outpatient experience
Original languageItalian
Pages (from-to)60-63
Number of pages4
JournalPediatria Medica e Chirurgica
Volume15 Suppl 1
Publication statusPublished - May 1993

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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