Balanced Information About Down Syndrome: What Is Essential?

Abstract

The first information given to parents of children with newly diagnosed Down syndrome has a major impact on adaptation to the diagnosis and subsequent decision making. It is generally recommended that the information provided by genetic counselors be balanced, with positive and negative information. However, few studies have defined what “balanced” means, and genetic counselors and parents may have a different perspective with regard to the information needed. Prior studies evaluating types of information provided about Down syndrome by genetic counselors have not considered the information that parents of children with newly diagnosed Down syndrome believe to be important. This report used an online survey to examine the perspectives of genetic counselors and parents to establish a general consensus on the essential information that should be provided during initial discussion of a newly diagnosed Down syndrome in both prenatal and postnatal settings. Genetic counselors and parents were identified and surveyed through online contact with members of the National Down Syndrome Congress, National Down Syndrome Society, and National Society of Genetic Counselors. Of the total of 993 parents and 389 genetic counselors who started the online survey, 687 parents (69.2%) and 254 genetic counselors (65.2%) completed all sections. Participants rated each of 100 features of Down syndrome as essential, important but not essential, or not too important for the initial discussion of a diagnosis. The responses of parents and genetic counselors identified a total of 34 essential informational items to include. Essential items included how the diagnosis was made, clinical features, associated medical complications, available therapies, prognosis for intellectual disability, a range of potential outcomes, and informational resources and referrals. In addition to these 34 essential items, survey responses showed parents value information demonstrating the abilities and potentials of people with Down syndrome and that illustrate what life is like for a child and adult with Down syndrome. These findings show that to facilitate adaptation by families of affected infants to a new diagnosis of Down syndrome, the initial pre- and postnatal discussion should balance clinical information with the information that parents believe to be important.