Wendy S Meschino1. 1. Department of Genetics, North York General Hospital, Toronto, Ontario. wmeschin@nygh.on.ca
Abstract
OBJECTIVE: To describe an approach to history, physical examination and investigation for the developmentally delayed child. METHODS: A review of electronic databases from 1997 to 2001 was done searching for articles relating to the approach to or investigations of children with developmental delay. Five studies, including a review of a consensus conference on evaluation of mental retardation, were chosen because of their general approaches to developmental delay and/or mental retardation, or specific evaluations of a particular laboratory investigation. CONCLUSIONS: A diagnosis or cause of mental retardation can be identified in 20% to 60% of cases. Evaluation of the developmentally delayed child should include a detailed history and physical examination, taking special care to record a three-generation pedigree, as well as to look for dysmorphic features. If no other cause is apparent, routine investigations should include a chromosome study and fragile X studies. Further investigations are warranted depending on the clinical features.
OBJECTIVE: To describe an approach to history, physical examination and investigation for the developmentally delayed child. METHODS: A review of electronic databases from 1997 to 2001 was done searching for articles relating to the approach to or investigations of children with developmental delay. Five studies, including a review of a consensus conference on evaluation of mental retardation, were chosen because of their general approaches to developmental delay and/or mental retardation, or specific evaluations of a particular laboratory investigation. CONCLUSIONS: A diagnosis or cause of mental retardation can be identified in 20% to 60% of cases. Evaluation of the developmentally delayed child should include a detailed history and physical examination, taking special care to record a three-generation pedigree, as well as to look for dysmorphic features. If no other cause is apparent, routine investigations should include a chromosome study and fragile X studies. Further investigations are warranted depending on the clinical features.
Authors: B B de Vries; S M White; S J Knight; R Regan; T Homfray; I D Young; M Super; C McKeown; M Splitt; O W Quarrell; A H Trainer; M F Niermeijer; S Malcolm; J Flint; J A Hurst; R M Winter Journal: J Med Genet Date: 2001-03 Impact factor: 6.318
Authors: C J Curry; R E Stevenson; D Aughton; J Byrne; J C Carey; S Cassidy; C Cunniff; J M Graham; M C Jones; M M Kaback; J Moeschler; G B Schaefer; S Schwartz; J Tarleton; J Opitz Journal: Am J Med Genet Date: 1997-11-12