Prevalence and patterns of presentation of genetic disorders in a pediatric emergency department

Objectives: To determine the prevalence and patterns of presentation of pre viously diagnosed and of suspected genetic disorders among pediatric emerge ncy department (ED) visits to a hospital that serves an inner-city populati on. Patients and Methods: A retrospective review of 15,258 pediatric (< 18 year s old) ED visits at Lincoln Medical and Mental Health Center was undertaken for visits that occurred between October 1998 and February 1999. Suspected genetic disorders, classified into chromosomal, single gene, multifactoria l, and other syndromic categories, were recorded. Results: Of 15,258 visits reviewed, 2839 visits (18.6%) were by patients wh o had known or suspected genetic disorders. Previously diagnosed genetic di sorders were documented in 80 visits (2.8%). Of these, 69 visits (86.2%) we re related to single gene disorders, 3 (3.8%) to chromosomal disorders, 6 ( 7.5%) to multifactorial disorders, and 2 (2.5%) to disorders in the "other" category. Of these 80 visits, 59 (74%) were associated with sickle cell di sease. The remaining 2759 visits (97.2%) were associated with complaints or diagnoses that suggested the possibility of an underlying genetic disorder requiring further evaluation and diagnostic work-up. Conclusions: Pediatric patients with known or suspected genetic disorders a re frequently treated in EDs. Awareness of underlying genetic disorders fac ilitates diagnostic evaluation, treatment planning, and referral to a genet ics clinic for counseling.