title: Etiology of mental retardation in children referred to a tertiary care center: a prospective study.
abstract: 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.
authors.affiliation: Department of Pediatrics, Academic Medical Center, Amsterdam, The Netherlands.
authors.forename: Clara D M
authors.initials: CD
authors.lastname: van Karnebeek
authors.forename: Frederike Y
authors.initials: FY
authors.lastname: Scheper
authors.forename: Nico G
authors.initials: NG
authors.lastname: Abeling
authors.forename: Marielle
authors.initials: M
authors.lastname: Alders
authors.forename: Peter G
authors.initials: PG
authors.lastname: Barth
authors.forename: Jan M N
authors.initials: JM
authors.lastname: Hoovers
authors.forename: Cindy
authors.initials: C
authors.lastname: Koevoets
authors.forename: Ronald J A
authors.initials: RJ
authors.lastname: Wanders
authors.forename: Raoul C M
authors.initials: RC
authors.lastname: Hennekam
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000209:etiology* / Q000235:genetics; D008297:Male; D010641:Phenotype; D011446:Prospective Studies; D012017:Referral and Consultation; D012307:Risk Factors; D013223:Statistics as Topic; D014888:Wechsler Scales