From research to practice: teacher and pediatrician awareness of phenotypic traits in neurogenetic syndromes.
Pediatricians' and teachers' knowledge of physical, cognitive, and behavioral features associated with three genetic syndromes were assessed and the effectiveness of information sources about these syndromes evaluated. The surveyed sample included 53 pediatricians and 69 teachers from Northern and Central California. Respondents demonstrated limited knowledge regarding the physical phenotype of fragile X syndrome and significantly less knowledge of velo-cardio-facial syndrome (VCFS). In the cognitive and behavioral domains, significantly more was known about Down and fragile X syndromes than VCFS. Pediatricians and teachers make critical treatment and education decisions for children with these syndromes and would benefit from continued professional development about these syndromes through conferences, professional/association publications, in-service teacher training, and journals.
Lee
Tammy H
TH
Stanford University School of Medicine, USA.
Blasey
Christine M
CM
Dyer-Friedman
Jennifer
J
Glaser
Bronwyn
B
Reiss
Allan L
AL
Eliez
Stephan
S
D001364:Awareness; D003071:Cognition; D004062:DiGeorge Syndrome / Q000453:epidemiology / Q000235:genetics* / Q000503:physiopathology*; D004314:Down Syndrome / Q000453:epidemiology / Q000235:genetics* / Q000503:physiopathology*; D005178:Faculty; D005600:Fragile X Syndrome / Q000453:epidemiology / Q000235:genetics* / Q000503:physiopathology*; D006801:Humans; D015588:Observer Variation; D010372:Pediatrics; D010641:Phenotype; D011361:Professional Competence; D011795:Surveys and Questionnaires