Etiology of mental retardation in children referred to a tertiary care center: a prospective study

Am J Ment Retard. 2005 Jul;110(4):253-67. doi: 10.1352/0895-8017(2005)110[253:EOMRIC]2.0.CO;2.


A prospective assessment following a step-wise protocol in 281 patients with unexplained cognitive delay was used to assess diagnostic possibilities. Diagnostic procedures were complex and required a multidisciplinary approach. One third of diagnoses was established based on clinical history and physical exam only; for another third, clinical history and physical exam provided essential clues for additional investigations; and a third were established by additional investigations only. The likelihood to reach a diagnosis did not depend on the severity of mental retardation. We found that in a tertiary care center, a diagnosis can be established in 1 out of every 2 patients. Clinical history and physical examination are the most important instruments to reach a diagnosis.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Child
  • Child, Preschool
  • Cohort Studies
  • Diagnosis, Differential
  • Female
  • Humans
  • Intellectual Disability / etiology*
  • Intellectual Disability / genetics
  • Male
  • Phenotype
  • Prospective Studies
  • Referral and Consultation*
  • Risk Factors
  • Statistics as Topic
  • Wechsler Scales