Genetic Disorders of Intellectual Disability: Expanding our Concepts of Phenotypes and of Family Outcomes

Over the past two decades, great strides have been made in our understandings of how genetic conditions influence behavior and how such so-called “behavioral phenotypes” influence parent and family stress and coping. In this paper, we call for expansions in two directions. First, as a field we need to go beyond behavior in our concepts of phenotypes, to also include the many medical, physical, and other “non-behavioral” phenotypes that influence children’s everyday lives. Second, in examining how etiology-related phenotypes affect others, we need to go beyond the outcome of parental stress. In this regard, we focus on parental health, well-being, and various life choices, as well as how parenting children with specific genetic disorders can often lead to positive perceptions and outcomes. We end by discussing remaining research issues and how these two expansions relate to clinical practice.