To develop up-to-date evidence regarding healthcare and other costs and drivers of these costs among people with DS, we reviewed literature published between 2000 and 2022. Only 14 studies were identified that addressed the review questions. Although most articles on DS-related costs originated in the United States, studies were also identified from Canada, Taiwan, China, Australia, and South Korea, providing a broader scope.
The costs associated with DS were divided into two categories in the review: 1) Direct healthcare costs, which include inpatient, outpatient, emergency room, hospital care equipment, community-based services, pharmacy charges, and other medical costs (e.g., laboratory/pathology fees); and 2) indirect costs, such as economic productivity losses for people with DS and their families and education-related costs.
Individuals affected by DS incur greater costs than others. In Taiwan, individuals with DS had longer inpatient days (and higher medical expenses) as a result of their age when compared to the general population(31). Some of the studies showed that children with DS require particular healthcare services more than others due to a higher risk of chronic disease, and adverse physical, developmental, behavioral, or emotional health issues (8, 11). Furthermore, studies revealed that people with DS had a faster aging physiology, implying a greater demand for more proactive and responsive treatment to decrease emergency-related care in these vulnerable people(32, 33). These conditions necessitate regular medical and social care, which can result in increased healthcare costs for individuals, their families, and the health system.
Four major factors were reported by included studies to influence the cost of DS health care, including associated morbidity, functional disability, age, and socioeconomic characteristics (including socioeconomic status, urban versus rural and ethnicity). In general, costs were shown to be higher for people with comorbid conditions (such as CHD and dementia), for people with poorer functional disability, for people with lower socioeconomic status and for people living in urban versus rural areas. The relationship with costs was less clear for age and ethnicity.
In terms of co-morbidity, the majority of included studies that reported cost of comorbidities found that costs were higher for people with comorbid conditions compared to those without the comorbid conditions. According to Startin et al. (2020), the prevalence of multiple comorbidities differs across lifetimes in individuals with DS, and these comorbidities are associated with an increase in healthcare utilization and hospitalizations(34). In another study, Urbano and Hodapp (2007) in the US discovered that children with DS are more likely to be admitted to the hospital at early ages, especially if they suffer from respiratory diseases or congenital heart problems that require special care (35). According to the majority of research, roughly 46–56% of all newborns with DS have a medical diagnosis of a CHD (35–38). While the majority of research, such as those conducted by Hung et al. (2011) in Taiwan, indicates that DS with severe disease is more likely to require hospitalization, have more extended hospital stays, and have higher healthcare costs than their peers(31), Dobson and Middleton (1998), in the UK found that costs were not statistically different between DS children with and without associated comorbidities. This finding may reflect a lack of power due to the small sample size (39).
In terms of functional disability, several included studies showed a relationship between greater functional impairment and higher costs. In the USA, Chapman et al.(1991) assessed children with and without DS in terms of cognitive, motor, language, and socio-emotional development; children with DS, demonstrated lower performance than children in the control group(40). As shown by Wu et al in their study, there is a significant financial burden on families due to various physical issues that DS children have, which require costly health services.(41). Furthermore, with regard to their functional impairments, individuals with DS may be less productive than individuals without DS, which is further factor indirectly impacting the cost of DS. All in all, overall costs increased as dependency increased in all age groups. Indirect costs, which can include early mortality and morbidity, economic losses for people with DS due to reduced labor force participation and premature death, and economic losses for families due to reduced productivity, were found to constitute the majority of the economic burden of DS in the studies reviewed.
The association between age and healthcare costs among patients with DS was not straightforward in the included study. According to a number of studies, DS morbidity rates are highest in infancy and early childhood in comparison to older children and adolescents (42), with increased risk, for example, of heart abnormalities (43) or gastrointestinal issues (such as tracheoesophageal fistula, duodenal blockage, Hirschsprung disease, and imperforate anus (44)), requiring medical or surgical intervention. As a result, direct costs are typically highest in the first year of childhood and gradually decrease as one continues to age(43) but there are many other items that affect the health cost by aging. The fact that children with DS have medical concerns that require hospitalization is consistent with the fact that roughly 40–50 percent of newborns with DS are recognized as having heart abnormalities, many of whom will require surgical treatment, according to research by Bull et al. (2011), in the USA(43). Surgical intervention may also be required for gastrointestinal issues such as a tracheoesophageal fistula, duodenal blockage, Hirschsprung disease, and imperforate anus(44). In an analysis of hospital admissions for patients aged 0–19 years in Australia, Dye et al. (2010) discovered that patients with genetic diseases, such as DS, had higher admissions and were in the hospital longer than patients admitted for every cause(45). As patients with DS age, however, the relationship between age and costs alters, such that costs increase with older age. Thyroid problems, cervical spine disease, hearing impairment, obesity, sleep apnea, heart disease, and osteopenia-osteoporosis are all linked to aging in DS(3), which drives increases in costs as people with DS age.
Socioeconomic variables reported by included studies to be associated with health care costs borne by individuals, families and society included socioeconomic status, urban versus rural geographical location and ethnicity. Families and individuals with DS who reside in urban areas incur greater cost than those in rural areas, which may reflect improved access to diagnosis, treatment, rehabilitation, and other health and welfare facilities in urban areas compared to rural areas. On the other hand, Deng et al.(2015) found that prenatal diagnosis were performed more frequently in urban areas than in rural areas and due to the higher social and economic status of urban women and their greater access to health care services, the Total Prevalence of Down syndrome in urban areas is higher than in rural areas.(46). It should be mentioned that adequate prenatal screening policies may minimize lifelong costs to people, families, and society (47, 48). However, studies reveal that low socioeconomic status (SES) is associated with diminished DS screening uptake(49, 50)
The relationship between ethnicity and costs was less obvious and almost all evidence related to the USA. Studies reported higher annual per capita costs in black populations, followed by Asians, North American natives, Hispanics, and whites with the lowest levels of expenditure. Higher costs were associated with increased risk of post-birth hospitalization in children born to Hispanic mothers in the United States, particularly in comparison to non-Hispanic white mothers, whilst children born to non-Hispanic black mothers had higher costs as a result of longer duration of hospitalization. There was evidence to suggest greater reliance on informal care and lower access to residential care in African American and Hispanic groups, which may contribute to longer lengths of stay, and higher costs, as a result of delayed intervention in these groups. These reported differences may also be influenced by ethnic differences in the prevalence of DS. Forrester et al (2003) found that DS incidence varies depending on ethnicity variation (51).
Racial or ethnic variations have been found to influence risk perception and attitudes toward prenatal testing strategies, which result in variation in prevalence of DS across different ethnic groups, and thus cost differences between ethnic groups (50). Furthermore, race and ethnicity have been shown to have an impact on infant, child, and adult mortality trends and age at death, which has an impact on indirect costs such as productivity losses.(42) However, studies have yet to clearly identify those ethnic groups that incur greater costs or to disentangle the impact of health status, socio-economic status and cultural beliefs on cost differences, and further research in this area is needed.
Low socioeconomic status was a further factor reported by included studies to contribute to the higher cost of DS. According to khan et al.(2006), parents of children with Down syndrome who work in the informal sector are more likely to have low socioeconomic status than those who do not (52) Similarly, Ruger et al. (2001), in the US, suggest that DS imposes a financial strain on people with DS and their families, which has a knock-on impact on society more broadly. Because of the burden of disease of DS, individual’s with DS and their families are likely to invest less in the accumulation of human capital, which may have a negative effect on family income(53), and additionally bear significant financial burden related to care needs(13, 41).
In addition to the cost of healthcare, families incur additional socioeconomic burdens as a result of caring for a family member with DS. Included studies reveled that there is a linear association between age and the hours invested in the care of children with DS, with care needs increasing with ageing. Parents were the primary caregivers in 73% of DS patients, as reported by de Asua et al (2015)(54), and health, independence, and physical ability of children with DS influence families as a main caregivers in different ways(55). This implies that family members of people with DS are likely to have less time to devote to productive employment, which will have a negative impact on family income(56). DS also impacts on the education received. Whilst mainstream schools are appropriate for some children with DS, those with more severe functional disabilities and comorbidities may require more specialized schools. Lack of access to such schools can have a deleterious impact on the children, who may not receive an appropriate education, but also on family members who may have to sacrifice employment to care for a child at home. Many countries offer governmental infrastructure and social services to enable children with DS to attend school to promote self-care among children, and minimize families' indirect costs (57). As Grosse (2010) notes in his study, non-economic aspects such as emotional considerations, values, time constraints, or other social circumstances are not investigated in studies due to a lack of data and the intricacy of the considerations and computations. However, parents frequently regard these elements as critical difficulties, affecting the indirect cost (58).
Limitations
This research has certain limitations. To begin, we could not compare overall healthcare expenditures and out-of-pocket expenses across included research because each study included a distinct set of cost components and reported results from different years in different currencies. Because healthcare delivery and finance systems in the included research varied, it was impossible to meaningfully compare healthcare costs across nations. Second, we excluded grey literature and papers written in languages other than English, which may have influenced our findings.