Evaluating the Risks and Benefits of Genetic and Pharmacologic Interventions for Down Syndrome: Views of Parents

Am J Intellect Dev Disabil. 2020 Jan;125(1):1-13. doi: 10.1352/1944-7558-125.1.1.


Researchers are investigating new technologies to mitigate or prevent symptoms of Down syndrome (DS), including chromosome silencing and pharmacotherapy. We surveyed parents of individuals with DS to assess their opinions on two hypothetical scenarios describing prenatal chromosome silencing and pediatric pharmacological intervention to improve neurocognition in children with DS. Although a slim majority of participants supported the availability of both therapies, respondent support was contingent on the risks presented, including the risk of miscarriage in the prenatal intervention and the impact of pharmaceuticals on their children's personality. Many parents expressed ambivalence, articulating a desire to improve their children's quality of life but requiring more safety and efficacy research before agreeing to a genetic or pharmacological intervention.

Keywords: Down syndrome; chromosome silencing; gene therapy; survey; trisomy 21.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Child
  • Child, Preschool
  • Down Syndrome / drug therapy
  • Down Syndrome / genetics
  • Down Syndrome / prevention & control
  • Down Syndrome / therapy*
  • Drug Therapy*
  • Female
  • Fetus
  • Gene Editing*
  • Gene Silencing
  • Humans
  • Infant
  • Male
  • Middle Aged
  • Parents
  • Patient Acceptance of Health Care*
  • Prenatal Diagnosis
  • Risk Assessment
  • Surveys and Questionnaires
  • Young Adult