Etiology of mental retardation in children referred to a tertiary care center: a prospective study.
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.
van Karnebeek
Clara D M
CD
Department of Pediatrics, Academic Medical Center, Amsterdam, The Netherlands.
Scheper
Frederike Y
FY
Abeling
Nico G
NG
Alders
Marielle
M
Barth
Peter G
PG
Hoovers
Jan M N
JM
Koevoets
Cindy
C
Wanders
Ronald J A
RJ
Hennekam
Raoul C M
RC
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