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

Mayo Clin Proc. 2001 Aug;76(8):777-83. doi: 10.1016/S0025-6196(11)63220-5.


Objectives: 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.

Results: 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.

Conclusions: 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.

MeSH terms

  • Adolescent
  • Child
  • Child, Preschool
  • Diagnosis, Differential
  • Emergency Service, Hospital / statistics & numerical data
  • Female
  • Genetic Diseases, Inborn / diagnosis*
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Prevalence
  • Retrospective Studies
  • Urban Population