Balanced information about Down syndrome: What is essential?

Abstract

The purpose of this study was to explore the perspectives of genetic counselors and parents of children with Down syndrome to define essential information for the initial discussion of a new diagnosis. We compared information given in both prenatal and postnatal settings, and also aimed to distinguish differences between the informational needs of parents and the information genetic counselors provide. Online surveys were distributed to members of the National Down Syndrome Congress, National Down Syndrome Society, and National Society of Genetic Counselors. Participants included 993 parents of children with Down syndrome and 389 genetic counselors. Participants rated 100 informational features about Down syndrome as Essential, Important, or Not Too Important for inclusion in the first discussion of the diagnosis. Responses identified 34 essential informational items for the initial discussion of Down syndrome, including clinical features, developmental abilities, a range of prognostications, and informational resources. Healthcare providers should consider incorporating these items in their initial discussion of a diagnosis in both prenatal and postnatal settings. Statistically significant differences between parent and genetic counselor responses illustrate that information is valued differently and that parents appreciate information about the abilities and potential of people with Down syndrome, as opposed to clinical details. Balancing clinical information with other aspects of the condition, as well as a better understanding of the information parents consider most important, may enable healthcare professionals to more effectively satisfy families' informational needs following a new diagnosis of Down syndrome.

An Integrated Literature Review of the Knowledge Needs of Parents With Children With Special Health Care Needs and of Instruments to Assess These Needs

“…In addition, there are differences between the perception of genetic counselors and parents in what information should be disclosed with the initial information about the diagnosis (Sheets, Best, Brasington, & Will, 2011). As prenatal diagnostics have advanced substantially in recent years, further studies assessing the knowledge needs of parents at the time of prenatal diagnosis are required, as newer studies show that the knowledge needs of parents differ if the diagnosis is made during pregnancy or at the time of the child's birth.…”

The first year: the support needs of parents caring for a child with an intellectual disability

“…, Sheets et al . , ). However, there is an absence of literature that examines parents' ongoing need for support beyond the initial postnatal period.…”

“…, Sheets et al . ), the literature consistently reports that health professionals fail to provide enough current, comprehensive, accurate, balanced information about a child's condition and its implications for the child and family when informing parents of their child's diagnosis (Skotko , Skotko & Bedia , Gammons et al . , Choi et al .…”

Informed decision-making about prenatal cfDNA screening: An assessment of written materials

“…While truly complete information about screened conditions is impractical and likely unnecessary in pre-test decision-making, even brief descriptions of screened conditions may provide contextual information that conveys information beyond descriptions of genetic mutations and helps patients understand the diversity of conditions being screened. One way to offer interested patients more information without overwhelming others is to list other resources; however, although many IC included links to company or clinic websites with more information (which we did not assess in this study), only one IC listed any patient support organizations for genetic conditions—resources that many families value for the depth and relevance of condition-specific information they can provide (33, 50). …”