title: The use by Alabama pediatricians of genetics consultation in the evaluation of developmental delay.
abstract: Developmental delay (DD) is among the most common serious problems encountered by the general pediatrician. Published guidelines exist that recommend a genetics evaluation be a routine part of the evaluation of these children [Curry et al. (1997) Am J Med Genet 72:468-477; American Academy of Pediatrics (2001) Peds 108:192-195]. In an effort to determine if this recommendation is widely followed, we surveyed Alabama general pediatrics to learn how they utilize a genetic assessment in their evaluation of unexplained DD, and to identify any barriers to a genetics evaluation. A questionnaire was developed that asked about various factors that might influence how pediatricians use genetic evaluations. It was mailed to all members of the Alabama chapter of the American Academy of Pediatrics. The data were tabulated and analyzed by standard methods. One hundred thirty-seven of 653 surveys were returned. The respondents were evenly divided among urban (35%), suburban (33%), and rural (32%) practice settings. Most were in a non-academic group practice (71%) and not fellowship trained (76%). Most felt that a genetic evaluation will help define recurrence risk (96%), determine prognosis (96%), and guide patient management (95%). There was limited concern that a genetics evaluation would increase the cost of evaluation (24%) and that it would not eliminate unnecessary testing (64%). The most common indications for referral were the presence of birth defects (93%), positive family history of DD (88%), unusual facial appearance (88%), and parent request (71%). Poor growth was not as strong an indicator. Lack of meaningful results (20%) and expense (18%) were common reasons not to refer, and 48% also cited "other" reasons. Likelihood to refer did not differ by practice location (rural vs. suburban), but distance from a genetics center was a factor. Alabama general pediatricians appreciated the benefits of a genetic evaluation for DD, but several barriers were identified. These issues that must be addressed in order to make a genetics evaluation available to all children with DD.
authors.affiliation: University of Alabama School of Medicine, Birmingham, Alabama 35243, USA.
authors.forename: Min-Jye
authors.initials: MJ
authors.lastname: Chen
authors.forename: Cheryl L
authors.initials: CL
authors.lastname: Holt
authors.forename: Edward J
authors.initials: EJ
authors.lastname: Lose
authors.forename: Nathaniel H
authors.initials: NH
authors.lastname: Robin
mesh_terms: D000407:Alabama; D002648:Child; D002658:Developmental Disabilities / Q000175:diagnosis* / Q000235:genetics*; D033142:Genetic Services / Q000706:statistics & numerical data*; D006297:Health Services Accessibility; D006801:Humans; D010372:Pediatrics / Q000379:methods / Q000639:trends; D010821:Physicians, Family; D012017:Referral and Consultation / Q000706:statistics & numerical data*; D011795:Surveys and Questionnaires