Despite a century of progress in medical knowledge, many diagnostic odysseys end in disappointment, especially when the child has a developmental disorder. In cases of autism and intellectual disability, relatively few children receive a specific diagnosis, and virtually none of those diagnoses lead to a specific medical treatment. Whole‐genome or ‐exome sequencing offers a quantum leap in the diagnostic odyssey, in that we will always learn something from sequencing—sometimes much more than families bargained for, as discussed elsewhere in this special (...) report. The trick is whether the knowledge gained will help the child and family. A family‐centered approach gives families permission to choose but does not lay all of the responsibility on them. The goal is to pursue the degree of medical diagnostic evaluation that matches the family's values. (shrink)
This chapter contains sections titled: Introduction Investing in Science: Child Health and U.S. Medicine in the Twentieth Century The Impact of Specific Medical Interventions The Changing Definition of ID The “Flynn Effect” and the Impact of Improved Public Health Conclusion References.
A reader confronting this collection of essays might wonder if something went awry in Jacksonville, Florida, in February 2014, when conference organizers gathered pediatric bioethicists and international child rights advocates to discuss the application of the U.N. Convention on the Rights of the Child to the work of clinical bioethics in the United States. Surely a document proclaiming a worldwide consensus on child rights would strengthen the hand of ethicists advising clinicians and researchers who face difficult decisions. Yet the conference (...) discussion—and resulting manuscripts—depict a deep divide: bioethicists largely rejected the notion that the CRC is a useful.. (shrink)