‘Down syndrome is not a curse’: Parent Perspectives on the Medicalization of Down Syndrome

Abstract

Background

Potential clinical interventions to mitigate or eliminate symptoms of Down syndrome (DS) continue to be an active area of pre-clinical and clinical research. However, views of members of the DS community have yet to be fully explored.

Methods

We conducted a survey with parents/caregivers of people with DS (n=532) to explore interest in potential therapeutic approaches during fetal development or childhood that may improve neurocognition and modulate the DS phenotype. We qualitatively analyzed open-ended responses.

Results

Some respondents rejected the development of therapies for DS categorically as being fundamentally ableist and promoting the erasure of diverse individuals. Many reflected tensions between the desire to improve quality of life and an aversion to erasure of a child’s personality.

Conclusion

Findings suggest that views on identity, personality, and disability may influence the acceptance of new interventions, especially if they are thought to mitigate positive attributes of the phenotype or negatively influence social acceptance of people with DS.

Introduction

Down syndrome (DS) or Trisomy 21 is the most diagnosed cause of intellectual disability, with an estimated birth prevalence of 1 in 758 (de Graaf, Buckley, and Skotko 2019). Clinical interventions intended to mitigate or eliminate symptoms of DS are an active area of medical research. Several potential therapies are currently in pre-clinical and early stage clinical development, including silencing the extra chromosome during fetal development and drug therapies to improve neurocognition in children and adults (Bartesaghi et al. 2015; Hart et al. 2017; de Wert, Dondorp, and Bianchi 2017). A clinical trial of the drug Basmisanil, hypothesized to improve cognition and mental adaptation in children with DS, advanced to Phase 2 clinical trials before being halted for lack of primary endpoint changes (Goeldner et al. 2022). Another therapeutic, ELND005, has shown preliminary success in increasing cognition (Rafii et al. 2017).

These efforts are based in the historically dominant concept of a medical model of disability: the premise that a disability significantly impacts quality of life and that persons with disability would prefer to be non-disabled (Barnes, 2014). They frame the response to disability as a pathology that should be addressed to bring individuals back to a baseline state of health. Through this lens, the development of therapies for conditions considered disabling, such as DS, is seen as the goal of medicine. However, the medical model is complicated by research on the perceptions and priorities of parents, siblings, and individuals with DS (Skotko, Levine, and Goldstein 2011a; 2011b; 2011c). Parents and individuals have reported in the literature that while there are medical issues to address, DS does not a priori entail suffering; a majority report high satisfaction and quality of life. Many in the DS community have framed its ‘disabling’ aspects as not inherent in the phenotype but, rather, the result of limited accommodations and opportunities available to persons with a physical or cognitive difference (Oliver 2018; C. Barnes 1991; E. Barnes 2014). This social model of disability builds on empirical evidence demonstrating that persons with disability experience disadvantages that are highly socially mediated: they are less likely to be employed, access adequate healthcare, earn the same as those without a disability, be integrated in regular classrooms, or participate in community activities (Okoro et al. 2018).

Consistent with the social model, the language guide offered by the National Down Syndrome Society notes that DS is “not a disease” and that people with DS do not “suffer from” nor are they “afflicted by” DS (National Down Syndrome Society (NDSS) 2023). The increased lifespan of persons with DS demonstrated over the past 50 years, advocates note, is due to the end of institutionalization, greater societal inclusion, and efforts to promote the rights of the disabled rather than any change in the condition itself (Whitten 2018). Changing physician attitudes and the removal of DS as a contraindication to cardiac surgery have also likely contributed to this increase in lifespan, suggesting that medical and social bias, more than DS itself, have historically inhibited the flourishing of persons with DS (Smith et al. 1984; Haslam and Milner 1992; Pace, Shin, and Rasmussen 2010). Despite greater inclusion and education, one study showed that more than a quarter of adults and youth express negative attitudes about persons with DS, biases that may pose continued barriers to full social, educational, and workplace inclusion (Pace, Shin, and Rasmussen 2010).

Nevertheless, some medical interventions such as cardiac surgery are nearly universally accepted, and many families of children with DS have participated in clinical drug trials or sought other medical interventions (Inglis et al. 2014; Prussing et al. 2005). As therapies targeting DS advance toward the clinic, parents are confronted with decisions about experimental interventions to improve health and address intellectual disability. Each decision is grounded in parental evaluations of the individual needs of their child, their perceptions of how central DS is to their child’s identity, and their underlying understandings of the nature of disability. In 2017, we conducted a mixed methods survey to examine the attitudes of parents on potential interventions for DS. Prior qualitative and quantitative analyses, along with the full text of the survey, have been published previously (Michie and Allyse 2019; Riggan et al. 2020). Two of the five scenarios described therapies currently being investigated that raise complexities as to how parents may evaluate a decision to accept or decline such an intervention if clinically offered. These two proposed interventions were an in utero therapy to genetically silence the extra chromosome and a pediatric medication designed to improve memory and attention in childhood. Previously published results reported significant ambiguity in parents’ responses, especially as to how the two therapies could have positively and negatively impacted their child (Riggan et al. 2020). To further investigate the tensions within parents’ responses, we conducted additional thematic analysis to understand how parents and caregivers conceptualize the nature of disability in dialogue with the medical and social models and how these conceptualizations relate to hypothetical uptake of the two therapies.

Methods

Survey Design

Survey development included a team of specialists in bioethics, disability studies, patient advocacy in the DS community, and clinical care for individuals with DS. The 20-item, mixed methods survey elicited views on potential prenatal and postnatal interventions for DS based on ongoing pre-clinical and early-stage clinical research. Participants were invited to complete background questions about their child, including their own assessment of how affected their child was by DS (minimally affected, moderately affected, very affected) and how often their child saw medical personnel for something associated with DS, and were presented with five hypothetical scenarios, including therapies that could be introduced during prenatal development, childhood, and adulthood. Two of these scenarios were designed as controls, presenting currently available and widely accepted prenatal and pediatric interventions to address fetal bowel obstruction and congenital heart defects, respectively. The remainder described investigational therapies, including an in utero scenario based on in vitro trisomy silencing (Jiang el al. 2013) and a pediatric medication modeled on Basmisanil (Goeldner et al. 2022). A third scenario described a hypothetical vaccine for Alzheimer’s disease introduced in adulthood; analysis of this scenario has been published separately (Batbold et al., 2023). Participants were required to select a binary yes/no response as to whether they would choose the intervention for a family member and were invited to provide open-ended responses on perceived risks and benefits and any other thoughts they may have had about the intervention. Each scenario provided a description of hypothetical risks and benefits for the respective intervention to evaluate the importance of certain physical, cognitive, and behavioral traits in parental decision-making. The present analysis only includes responses to a prenatal cognitive and a pediatric cognitive scenario (Table 1), since these two scenarios were specifically designed to explore respondent’s perceptions of DS, disability, and how they may influence treatment uptake decisions.

Table 1.

Prenatal and Pediatric Scenarios

Prenatal Scenario	Risks & Benefits
At 10 weeks pregnant, Jackie has a prenatal screen that finds her baby likely has Down syndrome. Jackie wants to keep the baby. Her doctor tells her that there is a new treatment that could “silence” the extra copy of chromosome 21 that causes Down syndrome. This treatment would inject the baby with genes that may block the extra chromosome. For it to work, Jackie would need to start the injections very soon.	• The baby may have fewer physical symptoms of Down syndrome. • The genes may not make any difference at all. • The baby may have a typical IQ. • There is a small risk that the treatment could cause a miscarriage. • The long-term consequences have not yet been established and there is a chance the genes might lead to unexpected infection.
Pediatric Scenario	Risks & Benefits
Deborah is 11 years old and has Down syndrome. Deborah’s doctor says that a new drug has just been approved that might help. This new drug may improve memory and attention. Deborah would need to take a pill every day. Research has found no side effects in the first 2 years that the drug was studied.	• Deborah would probably learn new things at the same speed as other children. • The long-term health risks of taking the drug are unknown. • Deborah would be more likely to live on her own when she grows up. • The drug may not work. • Deborah may be less outwardly affectionate and more self-conscious.

Recruitment

A hyperlink to the anonymous survey was disseminated through social media accounts of Down syndrome advocates affiliated with academic institutions. The survey was fielded through REDCap and was open to all relatives and caregivers of an individual with DS. (A second survey with more targeted questioning and reading level was planned to recruit individuals with DS specifically.) The survey remained open for 7 days in July 2017. This study was declared exempt by the Institutional Review Board of Mayo Clinic as per the U.S. Department of Health and Human Services Policy for Protection of Human Research Subjects 45 CFR 46.101b, item 2. A brief consent statement was attached to the beginning of the survey to inform participants that by continuing with the survey they affirmed their consent. Due to the dissemination via social media, a response rate and geographical distribution cannot be determined.

Data Analysis

This study utilized an approach derived from grounded theory to reflect the emerging nature of the proposed therapies (Corbin and Strauss 2015). All responses from self-identified parents were included for qualitative analysis; other relatives and caretakers were excluded due to the very small number of responses. A qualitative codebook was developed between two researchers using an iterative parsing mechanism that grouped concurrent themes by thematic content (Donovan 1995). Following revision of the codebook to consensus between two researchers, one researcher coded all open-ended responses with the final codebook using the NVivo 11 software. Coded material was reviewed between the two researchers once a week for rigor and to identify emerging trends. Coded material was further spot checked by a second researcher for accuracy.

For the present thematic analysis, we describe qualitative results specific to the content in which parents grappled with medical and social models of disability as frameworks for understanding and evaluating interventions for their child. This content was coded as “Don’t medicalize,” which includes parent responses related to what they saw as the medicalization of DS, societal acceptance of DS, and perception of how DS related to their child’s identity. One researcher reviewed the content under this code to assess how parent responses aligned with medical and social models of disability, further parsing responses with respect to their agreement/disagreement with the intervention and how they rationalized this choice for sub-theme development (see Figure 1). Quotes have been minimally edited for readability. “Yes” or “No” responses to the prenatal and pediatric scenarios, child’s age, and fixed response on whether their child was “Mildly,” “Moderately,” or “Very” affected by DS are included for additional context following each quote.

Figure 1.

Responses to scenario mapped by disability model.

Results

532 individuals identifying as parents of children with DS completed the survey, out of 1093 individuals who initiated the survey (48.7% completion rate). Most respondents completed at least one open-ended question for each scenario (93% for the prenatal scenario and 91% for the pediatric scenario) and were included for analysis. An overview of major thematic findings is presented in Figure 1. Table 2 presents demographics for the entire sample.

Table 2.

Demographics

Age of parent (n = 528)
Median age (range)	41 (17 – 74)
Age of child with DS (n = 532)
Median age (range)	5 (1 – 44)
Severity of DS (n = 530)
Minimally affected	149 (28.11%)
Moderately affected	290 (54.72%)
Very affected	91 (17.17%)
Frequency of clinical care (n = 531)
Daily	27 (5.09%)
Weekly	214 (40.30%)
1–3 times per month	81 (15.25%)
Every few months	162 (30.51%)
Less than once a year	47 (8.85%)

Medical Models of Down Syndrome

Some responses suggested that parents viewed DS in terms closer to a medical model of disability, including physically, intellectually, and socially disabling features. Parents whose descriptions of their child’s condition focused on DS as primarily a medical condition expressed hopes that new therapies would treat their child’s physical and cognitive symptoms and offered support for more translational research in this space. Parents in this category were generally supportive of the prenatal and pediatric interventions described in scenarios, although the theorized risks ultimately led some to say they would decline the intervention.

We don’t hesitate to take a pill that will lower our blood pressure, treat diabetes, make us lose weight, or treat 1 million other conditions, so why would we hesitate to try and treat the cognitive effects of DS? (Pediatric Intervention, Yes to scenario, 2 yr old, Moderately affected)

I would do anything to assist my daughter in making her life better for her. I can see that she is frustrated but I would not risk her life. I have always thought it strange that others say Down syndrome is a blessing--they would never say blindness [or] cancer is a blessing. (Prenatal Intervention, No to scenario, 7 yr old, Mildly affected)

Many parents whose responses leaned towards a medical model were careful to stress that their interest in potential therapies for DS did not mean they loved their child any less or wished to change who they are. Rather, they expressed a parental responsibility to consider treatments that could improve their child’s quality of life, increase independence, and ameliorate physical symptoms.

Because the health benefits outweigh my personal opinion that she is ‘perfect’ the way she is. Because if it’s possible she would not develop other medical conditions that would be worth everything. Not Alzheimer’s, heart, GI, etc. (Prenatal Intervention, Yes to intervention, 8 yr old, Moderately affected)

As a parent, we of course love our children the way they are and I would never want to change my child, but if I can provide a medication that allows him to be more like his typical peers and live independently, I would of course sign him up. (Pediatric Intervention, Yes to scenario, 3 yr old, Moderately affected)

Parents with a more medicalized view of DS expressed the belief that their child was more than the sum of their chromosomes and often said that they would consider any potential therapies that may reduce their child’s struggles resulting from DS, including cognitive, behavioral, and physical symptoms. Accordingly, many disagreed that their child’s personality was the result of DS and expressed less concern with the hypothetical risk of personality change described in the pediatric scenario, although many stated they would miss certain personality traits if affected.

I have read about different articles about women taking various nutritional supplements or even Prozac while pregnant. I don’t necessarily want to attempt to irradiate the Down syndrome population, but I do want to provide those with DS the best chance of living a healthy life, free of the implications of the additional chromosome (i.e. [suppressed] immunity, heart conditions, intellectual disability, etc.). (Prenatal Intervention, Yes to scenario, 3 yr old, Moderately affected)

This would be phenomenal. I do not agree with some in the DS community that my son’s personality is a result of his DS. Helping his challenges would not change who he is. (Pediatric Intervention, Yes to scenario, 6 yr old, Very affected)

Many also disagreed that a genetic or drug therapy had the potential to fundamentally alter their child’s identity but were interested in potential treatments that could improve their child’s health and functioning.

My daughter is not Down syndrome. If treatment could make learning easier for her then I would do everything possible to help her thrive. (Prenatal Intervention, Yes to scenario, 6 yr old, Moderately affected)

I believe it’s not like you want to erase Down syndrome but minimize the impact on his/her life because of the Down syndrome, just like we do with therapies and early intervention. (Prenatal Intervention, Yes to scenario, 7 yr old, Moderately affected)

Disability is the Result of Social Bias and Exclusion

A larger subset of parental responses expressed a belief that the construct of ‘disability’ was a result of social bias and the failure to accommodate persons with intellectual disability into the larger fabric of society. These parents typically objected to the prenatal and pediatric interventions presented in the scenarios or indicated that they would not approve them for their child. Many parents were adamant that their child did not have a disease in need of a medical ‘cure’ and thought the development of therapies altering the phenotype conveyed that DS was an undesirable difference.

This is really hard!! I don’t think Down syndrome is a disease that needs treatment and in this case the risks outweigh the benefits for me. (Prenatal Intervention, No to scenario, 4 yr old, Mildly affected)

Children with Trisomy 21 are not broken so they don’t need science to fix them. (Pediatric Intervention, No to scenario, 21 yr old, Mildly affected)

Several comments were directed towards the need for greater social acceptance and opportunities to help persons with DS thrive. Some parents indicated this was a more worthwhile goal than ‘curing’ DS through medical interventions.

The benefits seem focused on eliminating DS. DS is not the problem often (though there can be attendant medical issues), societal perceptions often are. (Prenatal Intervention, No to scenario, Mildly affected, <1 yr old)

At the age of 5, the greatest potential for having major challenges is how other people perceive him or what opportunities he is given. This example is very much about how to ‘fix’ Down syndrome, but the impressive increase in life expectancy and learning, working, living independently has more to do with people with Down syndrome being treated as able, worthwhile citizens in our community. (Prenatal Intervention, No to scenario, Mildly affected, 5 yr old)

Several parents felt that larger social values unduly influence the aspects of DS that are targeted for intervention. Many parents were critical of perceived social biases against intellectual disability and suggested physical defects were more appropriate therapeutic targets than IQ or cognition.

It’s alarming to me that society is so afraid of ‘the other’ that a baby with an extra chromosome would be viewed as something that needs fixing. I understand the value in trying to correct physical issues such as heart problems but doing a procedure like this so that the baby might have a normal IQ is absolutely not something I would do. (Prenatal Intervention, No to Scenario, 4 yr old, Moderately affected)

Benefits are speculative and relative to how society chooses to view quality of life. Risks are again making child a science experiment. (Pediatric Intervention, No to Scenario, 4 yr old, Moderately affected)

Parents frequently expressed that DS is a welcome genetic difference that brings great benefits to their child and their family. In particular, they described their child’s personality as an advantage, characterizing their child as ‘sweet,’ ‘joyful,’ ‘unfiltered,’ and ‘innocent.’ Many parents described DS as part of their child’s personality and identity, and thus were opposed to therapies designed to mitigate the DS phenotype.

While it would be wonderful to have a child without health issues often associated with Down syndrome. I think something like this would ultimately ALTER the very fabric of my child’s personality. I feel like it would be akin to playing God. ANY child born is perfect, No matter what hand their parents were dealt to deal with. (Prenatal Intervention, No to scenario, 10 yr old, Mildly affected)

One of the very most delightful characteristics of my daughter, which is a total blessing to her and one she gives to others as well, is her unfiltered, organic, unaffected lack of self-consciousness. It’s awesome!… No way would I threaten that tremendous gift. It’d be like snuffing out a bright, beautiful light. No way! (Pediatric Scenario, No to scenario, 12 yr old, Very affected)

This perception of the impact of DS on identity and personality contributed to the view of any intervention to remove DS from an embryo or child as an act of erasure, not only of their individual child but, in a broader sense, of all individuals perceived as ‘different’.

Why would you care about better life skills if you lost the person they are? Sacrificing their personality for a chance they will live on their own does not make sense to me. (Pediatric Scenario, No to scenario, 6 yr old, Very affected)

It doesn’t seem right to alter who a person is, I agree with enhancing skills to improve their life, but this seems like you are try[ing] to change WHO they are! (Pediatric Intervention, No to scenario, 13 yr old, Mildly affected)

Parents who expressed an interest in therapies for DS, but indicated support for a social model of disability, struggled with how to rationalize their choice. Some felt an inherent conflict between believing the model and choosing a treatment that may impact the DS phenotype. They worried accepting a therapy implied lack of acceptance of their child or negativity towards DS.

Very controversial. The debate between helping our kids and changing who they are has been around for a long time. But how can we make it easier for them without changing them? (Prenatal Intervention, Yes to scenario, 9 yr old, Moderately affected)

When my son was an infant, I wished and wished his body could ignore his extra chromosome. I do not wish that anymore, and I do not think that it should be anyone’s goal to eradicate Down syndrome. I believe that DS is an essential part of my son’s identity. But in all practicality, I would still choose to make his life easier for him, if it meant he might learn at a more typical rate, or gain strength at a faster pace. (Prenatal Intervention, Yes to scenario, 4 yr old, Moderately affected)

Social Impacts of Medical versus Social Models of (Dis)ability

Parents, including those who both agreed and disagreed with the prenatal and pediatric interventions in their fixed response, wrestled with the broader social implications of the development of medical interventions for people with DS. These included both potential positive and negative effects for individuals with DS, the broader DS community, and how such interventions may change societal perceptions of DS.

A common fear expressed by respondents was that therapies like those described in the scenarios might contribute to the elimination of DS on a population level. This fear was expressed more often for the prenatal silencing of the extra chromosome. For many parents, this concern alone was sufficient justification for rejecting the therapy.

I’m uncomfortable with the idea that medicine may move to getting rid of DS as if it were an infectious disease to inoculate against. I think that we should not over-medicalize it; and be sure that we are treating real problems, not simple differences. There’s no need to medicalize features such as eye shape or physical size or even IQ. We should treat the things that make kids with DS ill: heart malformations, swallowing difficulties, size and floppiness of airways, ability to fight infections. (Prenatal Intervention, Yes to scenario, 5 yr old, Moderate)

To me this is a scary concept. I do not like the idea of trying to eliminate Down syndrome. I cannot imagine a world without people that have downs. I feel like it is trying to ‘fix’ something that isn’t really broken. (Prenatal Intervention, Yes to scenario, 3 yr old, Mild)

However, others hypothesized that a prenatal or pediatric therapy that may mitigate the physical and neurocognitive symptoms of DS could reduce the rate of pregnancy termination following prenatal diagnosis of DS.

I think the benefit of avoid congenital defects and intellectual disabilities is most important. The vast majority of those who choose to abort a baby with Down syndrome do so because of concerns regarding physical health and intellectual abilities. If it is possible for gene therapy to eradicate or lessen the negative effects of Down syndrome, it is likely that less babies with Ds will be aborted. It is also possible for those with Ds to avoid medical problems/complications and issues that are a result of intellectual disability. (Prenatal Intervention, Yes to scenario, 3 yr old, Moderate)

I think it is important to be a pioneer in medical advances for T21. It is either that or just watch helplessly as the abortion statistics steadily rise. (Pediatric Intervention, Yes to scenario, 5 yr old, Mild)

Some parents felt that the offer of a therapy to improve neurocognition reinforced the notion that an individual’s moral worth is directly correlated with their intelligence and thus would contribute to bias against the intellectually disabled.

By offering this sort of ‘vaccine’ against Ds you teach society that unless a person fits a certain mold they hold no value. Diversity is important. A child with Ds is equally valuable to society as a typically developing person. What they offer is different but equally important. (Prenatal Intervention, Yes to scenario, 7 yr old, Moderate)

More awareness of how a person’s value doesn’t come in their IQ score. We live in a society where your worth comes in the outcome, people with Ds show us it’s about the process. (Pediatric Intervention, No to scenario, 4 yr old, Moderate)

Many parents stressed the unique contributions a person with DS makes to their family, community, and society. They warned that the loss of people with DS would have detrimental effects. Several parents stated that children with DS “make the world a better place” and suggested that they have a unique role in teaching others “what truly matters,” such as love, patience, tolerance, and inclusion.

Nothing should be done to eliminate or silence Down syndrome, we are all made differently because we are designed to complement one another. A world without DS is a sad place. (Prenatal Intervention, No to scenario, 5 yr old, Moderate)

My child learns at his own pace. He does things when he’s ready. This has taught me to slow down and enjoy the moment. Plus, I do not limit my child because he has Ds. Who’s to say he may not live on his own one day. (Pediatric Intervention, No to scenario, 2 yr old, Mild)

Discussion

Both the medical and social models of disability have been criticized for their failure to holistically address the social conditions and physical/cognitive impairments that contribute to disability (Shakespeare 2013; Anastasiou and Kauffman 2013). Nevertheless, these were the predominant models through which most parents in the sample expressed their thinking when considering interventions in children with DS. Explicit or tacit references to these models were repeatedly reflected in comments about their child’s personality, identity, social role, and current and future needs. Parents, including those that were supportive of a medical or social model of disability, expressed views that societal diversity, including the presence of differently abled individuals, is essential to the health and flourishing of humanity. Recognizing the fears that may accompany a prenatal or postnatal diagnosis, these parents spoke against the perception that life with a child with DS is difficult or unmanageable. Instead, most comments were emphatically positive about DS and appeared to be implicitly or explicitly directed towards refuting negative attitudes or biases against persons with DS or intellectual disability. However, parents disagreed on the extent to which they felt a medical intervention may positively impact societal attitudes towards DS or whether such an approach appeared to validate historical misconceptions of DS.

Intervention support is dependent upon disability model belief

As we saw, a minority of parents explicitly reflected a medical model of disability by directly comparing DS to other medical illnesses and conditions. These parents expressed a desire for research and medical therapies for DS, including those targeting neurocognition. Those who viewed DS as a medical condition were generally supportive of the theorized interventions and agreed to the scenario in their fixed response. However, for a small number of these respondents, the perceived risks prevented them from accepting the hypothetical therapy for their own child. In response to the prenatal scenario, a few of these parents expressed unease with the likelihood that silencing the extra chromosome would result in broad phenotypic changes, including personality and neurocognition, and were tentative in their acceptance.

Certain respondents argued for a distinction between the physical and neurocognitive symptoms of DS, indicating that physical complications, such as cardiac or gastrointestinal defects, were more appropriate therapeutic targets than IQ or cognition. In doing so, these parents distinguished between the effects of the extra chromosome they considered to be disabling ‘medical impairments’ versus those they deemed to be normal variations of human traits (e.g. memory or learning ability). The perceived or experienced burdens of these trait variations were portrayed as a product of larger social values, such as valuing human intelligence over compassion, or as the result of bias against persons with disabilities, rather than the traits themselves. While operating at least partially from a medical model, this cohort of respondents appeared to acknowledge its limitations by delineating between biological causes of disability versus traits that are made disabling or compound existing medical disability as a result of ableist attitudes and systemic inequalities in the treatment of the less abled.

More commonly, parents expressed a belief in a social model of disability, suggesting that ‘disability’ is primarily a social construct. The ‘burdens’ of intellectual disability were attributed to societal emphasis on intelligence and limited options for persons with a disability. Parents expressed a belief that the onus should be on society to promote inclusion of and provide accommodations for persons with DS, not on DS communities to pursue emerging therapies so they may better fit into a majority culture. Parents within this cohort typically rejected the scenario interventions on the basis that they were unnecessary and implied a devaluation of persons with intellectual disabilities. How severely they judged their child to be affected by DS did not appear to influence whether parents ascribed to a medical or social model of disability, although our previously published quantitative analysis found DS severity was significantly correlated with agreeing to the prenatal and pediatric interventions (Michie and Allyse 2019). Several parents believed the research question itself was pejorative, and indicated they felt the offer of a therapy for DS was ableist and presumptive of a medical model of disability.

Medical model and the erasure of the individual

Belief in a medical or social model of disability influenced parents’ perceptions on the extent to which DS shaped their child’s personality and identity. Parents who viewed DS as a medical condition expressed less concern about how an intervention might impact their child’s personality because they viewed their child’s personality as independent from, not based in, DS. Even if they expressed doubts that certain positive traits would be affected by medical interventions, for these parents, the substantial benefits to improving their child’s quality of life and independence outweighed concerns about changes to personality. Likewise, these parents disagreed that DS was central to their child’s identity or should be viewed solely as a positive genetic difference.

In contrast, parents opposed to the medicalization of DS typically viewed DS as integral to their child’s personality and identity. Parents already opposed to the use of medical therapies for DS were further affronted by the stated risk in the pediatric scenario of the child becoming less affectionate. For these parents, the ‘DS personality’ was not only an essential component of who their child is but was also highly valued. Many indicated this potential loss would be personally devastating to them as a parent. Moreover, many parents felt that the act of placing Down syndrome into the medical model was an act of erasure of the individual. Several parents stated that they would not ‘take DS away’ from their child, suggesting that, in some sense, they may consider DS to be a defining feature of their child. As a result, an intervention to mitigate the DS phenotype, especially one introduced prenatally, would be tantamount to eliminating their child’s very existence. Similarly, a drug therapy that may influence personality could fundamentally change their child beyond recognition. This finding suggests that these parents attribute essential facets of their child’s individual make-up to the extra chromosome, identifying a biological cause for certain personality traits. However, rather than being disabling in the medical-model sense, the presence of this extra chromosome for these parents was a good genetic difference, resulting in a distinctly positive, and beneficial, personality stereotype. These strong identity claims are likely to be reflections of parental views only rather than an inference of their child’s self-identity, since most survey respondents had young children, with a median age of 5.

Parental responsibility and models of disability

Several parents struggled to reconcile their desire for medical treatments to improve their child’s quality of life with belief in a social model. Those parents who agreed to an intervention reasoned that accepting such a therapy did not necessarily imply a devaluing of persons with DS, but rather was consistent with being a ‘good parent’ by seeking to reduce their child’s current or future struggles, even if it would result in changes to their child’s identity or personality. Their decision to accept such as therapy appeared to be based upon their assessment of the challenges their child may face, particularly as it related to their child’s social circumstance and functional strengths and weaknesses. Notably, a significant minority of parents (29.1%) agreed or strongly agreed that DS was a burden for their child in the quantitative portion of the study (Michie and Allyse 2019). Some parents were pessimistic that society was likely to become more inclusive of those with disabilities and emphasized a parental responsibility to ensure their child was prepared for the world as it is, not as they would wish it to be.

These results suggest the social model may, in practice, lead to moral tension, and perhaps even distress, over whether accepting a nascent therapy tacitly implies that DS is an undesirable condition that should be medically corrected. They may also be reflective of an imperfect application of this model, as many proponents of the social model recognize and make a distinction between the functional limitations caused by physical and cognitive impairments and disability caused by social barriers (Oliver 2018; C. Barnes 1991). However, critics argue that the personal impact of physical and cognitive limitations and real tangible needs that may be met through medical and technological advancements are glossed over in this model (Anastasiou and Kauffman 2013). While scholars have addressed these criticisms and/or argue that the social model was never intended to deny the realities of living with bodily limitations (Beaudry 2016; Wasserman, Asch, et al. 2011), parents may not be aware of the subtleties and academic debate surrounding the social model. Accepting that true burdens result from a genetic condition is not, in fact, incongruent with acknowledging the role of social structures in causing disability (Anastasiou and Kauffman 2013). Many parents described impairments (e.g. speech impairment, cardiac or GI structural defects, learning issues) experienced by their child as frustrating or burdensome, independent of external social causes of disability. These parents indicated they would be willing to try a medical therapy to reduce these struggles. However, some parents were willing to accept a therapy with the stated aim of reducing social barriers, even if on principle they accepted belief in a social model.

Societal impact of emerging therapies

Potential elimination of DS at a population level was a fear expressed by many parents, particularly in response to the prenatal scenario describing silencing of the extra chromosome. Parents stressed the positive and unique contributions of their child, and of persons with disabilities more generally, to society. These included their perceived role as ‘teachers’ demonstrating the importance of loving others, accepting the differences of others, and how their presence assisted in shifting social paradigms from valuing utilitarian outcomes to living a more authentic, relational life. Some recognized that these contributions may be different from those of an able-bodied person but emphasized that they are no less important or valuable to the health and flourishing of society. Similar ‘life lessons’ have been reported in prior studies of parents of children with DS (Skotko, Levine, and Goldstein 2011b; Pillay et al. 2012). These qualitative findings are supported by the high percentage of parents in our study (71.6%) who strongly agreed or agreed that DS was a positive force in the life of their family (Michie and Allyse 2019).

By contrast, some parents expressed hope that the availability of prenatal and postnatal treatments might reduce the high rates of termination following prenatal diagnosis of DS. Historically, countries with high uptake of prenatal testing have reported relatively high rates of fetal termination (60–90%) (Natoli et al. 2012; de Graaf et al. 2017), although in the U.S., the live birth rate of infants with DS is increasing (de Graaf, Buckley, and Skotko 2015). Concerns regarding coping or negative parental quality of life have been cited by women who have terminated a pregnancy following prenatal diagnosis of DS (de Graaf, Buckley, and Skotko 2015). Some survey respondents theorized that the availability of therapies to improve cognition or reduce physical symptoms would make the condition appear more manageable to persons concerned about their ability to raise a child with DS. Other societal concerns, such as the emergence of a moral or technological imperative to accept a therapy, or social stigma upon therapy rejection, were not captured in this study population, although these concerns have been reported previously (Inglis et al. 2014).

Limitations

Most respondents to the survey were parents of young children (median age 5 years old). Because a verbal mental age of 5 is necessary to make social comparisons and form social categories of DS and disability (Cunningham, Glenn, and Fitzpatrick 2000) parents in this sample may not have had the opportunity to discuss these concepts with their children. Limited evidence suggests the self-conceptualization of persons with DS is more consistent with a social model (Brown, Dodd, and Vetere 2010). Given that persons with DS exhibit specific behavioral and cognitive phenotypes at different developmental stages (Chapman and Hesketh 2000), parents of older children may have differing views on disability and the extent to which DS influences personality and identity. Parents of children who died in childhood from complications of DS may also have different views on models of disability. Social media recruitment may have limited the participation of parents with limited access to technology and those less involved with DS advocacy or social media. Survey instruments are limited in their ability to explore themes in-depth; parent responses may be more nuanced in other research settings (Snure Beckman et al. 2019). The risks and benefits stated in the scenarios are necessarily theorized, given that much research is in pre- or early clinical development and was subject to participants’ interpretation. Since the time of this survey (2017), views of people in the DS community on genetic conditions and interventions may have changed, so further research to elicit this community’s views is warranted. Individuals with DS may have views on interventions for DS, personality traits, and perceptions of disability that differ from those of their parents. A study designed to elicit their views is in development.

Conclusion

Parental acceptance of a therapy targeting the DS phenotype is influenced by whether they lean towards a medical or social model of disability and perceptions of their child’s identity. While a minority of parents viewed DS as largely a medical condition and desired therapies to improve their child’s quality of life, parents rejecting the interventions typically did so on grounds that DS was not a disease in need of a medical ‘cure.’ Some parents occupied a middle ground, expressing interest in interventions but also concerns about whether acceptance of a therapy would imply a rejection of the social model or lack of acceptance of their child’s difference. These parents justified their interest by delineating specific impairments they would accept medical interventions for or by indicating their choice was consistent with being a good parent. These results suggest that some parents will be reluctant to accept an intervention, such as prenatal chromosome silencing, that may tacitly imply that DS is a medical disease but may be more willing to accept interventions that are limited in their therapeutic scope, which may include drug therapies targeting neurocognition. However, parents who more explicitly adhere to a social model of disability may be less likely to be interested in therapies targeting the DS phenotype, especially if it impacts personality traits associated with DS. Parents were also concerned with broader ramifications of emerging therapies for DS, including concerns about the population-level elimination of DS. Parental views on identity, personality, and disability are likely to influence the uptake of any new intervention, especially if it is perceived to attenuate the positive influence and acceptance of persons with DS.

Lay summary:

• Prenatal and pediatric approaches to reduce the signs of Down syndrome are being investigated.

• Parents of children with Down syndrome expressed conflicted feelings about the idea of removing signs of Down syndrome from their child.

• Many parents expressed that Down syndrome was a valued part of their child and should not be taken away.

• Findings suggest that greater communication between the Down syndrome community and the research community is necessary to ensure that research aligns with their values and priorities of the patient community.

Data Availability:

The data that supports the findings of this article are available from the corresponding author upon reasonable request