Family perspectives about Down syndrome

INTRODUCTION

As the popularity and availability of noninvasive prenatal screening (NIPS) expands, more expectant couples will contemplate pregnancy options after receiving a “positive” result for Down syndrome (DS). The American College of Medical Genetics and Genomics (ACMG) endorses “accurate, up-to-date, and balanced information about DS” as crucial to informed decision-making [Gregg et al., 2013]. The National Society of Genetic Counselors (NSGC) recommends that healthcare providers “specifically discuss how having a child with Down syndrome might affect the family as a unit, the parents' relationship as a couple, and other present or future children” [Sheets et al., 2011]. Meeting this charge, medical organizations collaborated with national DS organizations and The Joseph P. Kennedy Jr. Foundation to create Understanding a Down Syndrome Diagnosis, a booklet reviewing the evidence about DS intended for expectant couples who have received a prenatal diagnosis of DS but have not yet made a decision regarding their pregnancy options [Down Syndrome Consensus Group, 2008].

While decades of studies have catalogued medical conditions that often accompany DS, few have surveyed families about their life experiences. Previously, we reported analyses of 3,056 parents, siblings (ages 9 and older), and people with DS (ages 12 and older) from across the United States [Skotko et al., 2011a,2011b,2011c]. From these questionnaires, a family portrait emerged. Nearly, all parents reported loving (99%) and being proud (97%) of their child with DS. About 79% said that their outlook on life was more positive because of their son/daughter with DS. Brothers and sisters also had a favorable perspective, with nearly all reporting love (97%) and pride (94%). Older siblings reported being a better person (88%) because of their brother/sister with DS. Yet, approximately 5% of parents reported general embarrassment, 4% regretted having their son or daughter with DS, and nearly 11% reported marital strain attributable to the child. Among siblings, 7% were embarrassed, and about 4% wished they could trade their sibling with DS in for a typically developing counterpart.

People with DS, themselves, were positive. Approximately 99% reported to be happy with their lives; 97% liked who they are; and 96% liked how they look. About 87% said that they could make friends easily, and only 4% felt sad about their lives, in general. Overall, mothers, fathers, brothers, sisters, and people with DS shared that they were satisfied—and even positive—about their lives, despite acknowledging the challenges that sometimes accompany DS.

Until now, these data have not been examined at the family level as an interactive model. If a mother or father felt embarrassed by their son or daughter with DS, did siblings feel similarly? If one person thought their outlook on life was distinctly more positive because of the person with DS, did the other family members share in that positive assessment? If a person with DS was sad about his or her life, what was the perception of his/her other family members? Here, we examine relationships among attitudes within families of a person with DS.

MATERIALS AND METHODS

RESULTS

DISCUSSION

When a person with DS becomes part of a family, parents and siblings often describe significant and lifelong changes. While positive experiences more frequently triumph, the modern-day American family that has a member with DS is not immune to challenges and tough moments. For this investigation, we analyzed the relationship of attitudes and emotions among different members of the same family.

The overwhelming majority of families reported unanimous feelings of love for their member with DS, particularly when the person with DS was biologically related to the other family members. Such love, of course, could take on different meanings for different family members: loyalty, sympathy, lack of regret, compassion, and agape, among others. These emotions have also been well chronicled in popular books written by family members [Berube, 1996; Beck, 1999; Skotko and Kidder, 2001; Soper, 2007; Groneberg, 2008; Soper, 2009]. Conversely, love did not resonate uniformly within all families, and parental feelings were not always similar to those of the siblings without DS. The overwhelming majority of families also expressed pride for the person with DS. Inconsistencies were more often noted when the sibling was younger. In our survey of siblings, ages 9–11, approximately 13% did not feel proud of their brother or sister with DS [Skotko et al., 2011a]. Perhaps, younger children are more likely to be jealous of the attention afforded to their sibling with DS or unable to separate the challenges of their sibling from their own, consistent with Erik Erikson's theory of personality development when school-aged children compare their self-worth to others [Erikson, 1959]. Their responses also reflect national data of neurotypically developing children that has found approximately 16% of neurotypically developing children between the ages of 6–11 felt “worthless or inferior” [National Center of Health Statistics at the Centers for Disease Control, 2007].

We note, however, that feelings of pride seem to evolve as a sibling matures. Only 6% of siblings older than 12 did not report being proud in our surveys [Skotko et al., 2011a]. Relatedly, younger siblings were also more likely to feel embarrassed of their brother and sister with DS if their parents felt the same. Oftentimes, younger siblings and parents spend more time with their family member with DS than older siblings, who may live elsewhere or be involved in different social environments, removed from the occasional moments of social awkwardness. Older siblings might also be able to appreciate all of the benefits of their sibling with DS without the responsibilities that their parents have. Additionally or alternatively, the younger siblings' feelings of embarrassment might be developmentally typical, since school-aged children recognize, for the first time, disparities in personal development relative to other children at this age [Erikson, 1959]. Adolescent and adult siblings, with more securely established identities, may be more likely to value the intimacy of family relationships, ultimately settling into lives where they know what is intrinsically important to them.

While all families have their challenges, the attitudes of those having the greatest difficulties are worth focusing on. For example, some older siblings more likely wished they could trade in their sibling with DS for another brother or sister without DS. This was felt when their parents were more likely to have expressed regret in their decision to have their son/daughter with DS. This seemed to occur in families if the person with DS was born among the first few children or if the sibling had a lower educational level. However, the functional skills of the people with DS, as rated by their parents, were not associated with this attitude, suggesting that level of cognitive disability does not have as much of an impact as other family variables. Perhaps, when the person with DS is the oldest (or among the older), the parents/caregivers and siblings are investing more time in that person's care and are all more sensitive to challenges. If a sibling advances in his or her education, however, he or she might begin to live outside of the household, becoming more removed from the frustrations being experienced by these parents. Healthcare professionals should be aware that some parents do struggle with their emotions, even beyond the initial year after their child with DS is born. Our previous research demonstrated that parents who expressed regret were more likely to have children with DS who had greater perceived health problems, learning difficulties, or were of Jewish background [Skotko et al., 2011b].

In general, parents had a keen understanding of the relationship between their son/daughter with DS and their siblings. As they grew older, people with DS were more likely to consider their sibling a friend, suggesting, perhaps, that tensions are healed and bonds strengthened with maturity. At the same time, this can be part of normal development, where family and relationships take on a different level of meaning as a person enters early adulthood. Parents who had advanced degrees, however, were less likely to feel that their children with and without DS had a genuine friendship. This might be because their expectations were higher, their conceptualization of friendship different, or both.

Regardless of whether parents felt that their outlook on life was more positive because of their child with DS, older siblings reported, similarly, that they were better people because of the brother/sister with DS. This could suggest that siblings are shaped differently by the experience of having a family member with DS. They might have slightly different values, expectations, and understandings of strength that can occur growing up beside a person with DS. Previous studies have demonstrated that important life lessons occur between siblings at formidable times during development [Skotko and Levine, 2006; Skotko et al., 2011a]. Additionally, whether or not parents felt comfortable answering their children's questions about DS, siblings felt comfortable asking them, regardless of age. With that said, not all parents were comfortable explaining, and not all siblings were comfortable asking, suggesting that supports and resources might be helpful to open communication channels for some families.

This study is subject to the same limitations as previously described for this dataset, including selection bias and non-response bias [Skotko et al., 2011a,2011b,2011c]. Our data are also not drawn from a population-based sample, so generalizability to all families who have members with DS in the United States is limited beyond those family characteristics described in this paper. All of our respondents were from families whose parents received a postnatal diagnosis or chose to continue their pregnancies after a receiving a prenatal diagnosis. To the extent that our data are used in prenatal counseling sessions, genetic professionals should advise expectant couples of the composition of our informants. There are no population-based registries for DS in the United States, although efforts are underway to build a contact registry (https://dsconnect.nih.gov/), patient database [Lavigne et al., 2015], and biobank. Also, as people with DS have differing opportunities and supports in other countries, future research should explore cross-cultural comparisons to our U.S. families. We did not survey a sample of “typical” families, so conclusions cannot be drawn on how families who have a member with DS are similar to or different than “typical” families. Further research might explore the degree to which these same issues are evident in a comparison sample with neurotypical children or children with other diagnoses. Such questions are not currently included in national household surveys such as the National Survey of Children's Health [National Center of Health Statistics at the Centers for Disease Control, 2007].

Families who have children with DS are not alone, either in number or experience. In this largest study to date, mothers, fathers, brothers, sisters, and people with DS have shared their nuanced feelings and varying perspectives. As future expectant couples seek more information about DS, our data demonstrate that positive themes tend to dominate for modern day families who have members with DS, although challenges were not insignificant for some. Healthcare professionals now have a current portrait of these families, which can inform their counseling to new and expectant couples. Oftentimes, expectant couples also seek out parents who already have a child with DS [Massachusetts Down Syndrome Congress, 2014]. Our data suggest, however, that people with DS are not all alike, and neither are their families. Expectant couples—and the health care professionals and advocacy organizations that support them—should seek to involve a range of parents so that a fuller conceptualization of DS will emerge. The same extra chromosome does not script a common playbook for family relationships.