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Prevalence and Patterns of Presentation of Genetic Disorders in a Pediatric Emergency Department


      To determine the prevalence and patterns of presentation of previously diagnosed and of suspected genetic disorders among pediatric emergency department (ED) visits to a hospital that serves an inner-city population.

      Patients and Methods

      A retrospective review of 15,258 pediatric (<18 years 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, multifactorial, and other syndromic categories, were recorded.


      Of 15,258 visits reviewed, 2839 visits (18.6%) were by patients who had known or suspected genetic disorders. Previously diagnosed genetic disorders were documented in 80 visits (2.8%). Of these, 69 visits (86.2%) were 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 disease. 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.


      Pediatric patients with known or suspected genetic disorders are frequently treated in EDs. Awareness of underlying genetic disorders facilitates diagnostic evaluation, treatment planning, and referral to a genetics clinic for counseling.
      ED (emergency department), LMMHC (Lincoln Medical and Mental Health Center)
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      Linked Article

      • The Growing Impact of Genetics on Health Care: Do We Have Appropriate Educational Resources?
        Mayo Clinic ProceedingsVol. 76Issue 8
        • Preview
          In less than 50 years after the discovery of the structure of DNA, the entire human genome has been sequenced.1,2 This landmark achievement of the Human Genome Project will certainly lead to an increased role of genetics in the practice of medicine.3 When such a dramatic, historical change affects the practice of medicine, regardless of the medical disciplines involved, corresponding changes in education are needed, to keep both medical practitioners and health care recipients apprised of the effects of the changes on their lives.
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