As the first study to evaluate barriers to care in the WS population, we have identified potential areas for improving care in this unique population, as well as possible implications for individuals with similarly rare genetic syndromes. In general, our sample included caregivers who were overall satisfied with their care and experienced minimal barriers. Caregivers also felt relatively confident in their ability to explain their child’s unique needs regarding the medical aspects of their care, their child’s behavioral and emotional care, and their child’s learning and/or school-related needs. In relation to other studies that utilized the BCQ, individuals with WS had higher total BCQ scores in comparison to a generalized population of children with special healthcare needs (Seid et al. 2004) and children with sickle cell disease (Jacob et al. 2016), similar scores to children with asthma (Seid et al. 2009), and lower scores in comparison to an otolaryngology clinic population (Razdan et al., 2019) and a group of children with cleft lip and palate disorders (Bennett et al. 2018).

On the BCQ, the subscale with the lowest scores (indicating more barriers to care) was Pragmatics. In several other studies that have utilized the BCQ, this subscale also had the lowest scores, indicating logistical and cost-related issues to be significant with regards to barriers to care for a variety of special populations (Seid et al. 2009; Seid et al. 2004; Jacob et al. 2016). It is curious that neither distance to a WS provider nor income were associated with scores on the pragmatic subscale of the BCQ, it is perhaps the case that the highly-affluent, well-insured nature of our sample limited the identification of such a relationship.

Similar to the initial study that validated the BCQ, we did not identify significant differences in BCQ scores based on either race or language. Although race, language, and ethnicity are associated with a number of disparities with regards to access (Weinick et al. 2000; Yee et al. 2018; Scott and Havercamp 2014; Magaña et al. 2012), data obtained in this study supports the view that race and language could instead be viewed as markers for processes that occur during a family’s interaction with the healthcare system, rather than as a measure of the processes themselves. Data presented in this study, however, should be interpreted with caution given our relative lack of diversity in regards to race, language, and ethnicity. Our sample was largely white, affluent, and highly-educated, thus limiting our ability to detect an association between demographic characteristics other than age; it likely is the case that these lack of associations reflect limited power to identify such effects rather than a true absence of associations.

Younger age was associated with increased barriers to care for the Pragmatics and Skills subscales. These particular associations may be indicative of the challenges faced by parents of children newly-diagnosed with WS as they initially learn to navigate their child’s care, seeking medical and developmental support in the face of both logistical and cost-related issues. It would be reasonable to conclude that parents of older children, because of their experience with the healthcare system, have learned how best to navigate complex systems of care, decreasing the barriers faced.

It may be that an increased focus on early identification and early receipt of diagnosis-specific supports could have a significant impact on the care of children with WS and their families. Though this study demonstrated a lower age of diagnosis versus prior studies, our results show low enrollment in early intervention services (72%) for the 39 children ages 0–3 years in our study. In the US, early intervention is a system of coordinated services which might include physical, occupational, and speech therapy services provided at no cost for eligible children and families as federally mandated through the Individuals with Disabilities Education Act (IDEA, US Department of Education, 2017). Children with WS are likely to benefit from such services and supports given their unique developmental challenges which make specific and timely early intervention of the utmost importance (Guralnick, 2016). Formal developmental screening in the U.S. primary care setting as recommended by the American Academy of Pediatrics (Lipkin & Macias 2020), even in absence of concern for a specific diagnosis of WS, has the potential to identify children with intellectual and developmental disabilities and lead to earlier enrollment in intervention services. Should children with WS not be recognized early by their clinical phenotype or medical comorbidities, the presence of global developmental delays could prompt completion of a genetic evaluation, revealing a diagnosis of WS (Moeschler & Shevell 2014).

In comparing household incomes to BCQ scores, income was significantly associated with the overall score (p = .002), the expectations subscale (p = .04), the skills subscale (p = .004), the marginalization subscale (p = .04), and the knowledge and beliefs subscale (p = .0006). Lower income families may benefit from additional support when attempting to access services. Such support, which could include opportunities for care coordination services or additional opportunities for patient and caregiver education, could have the potential to aid in the reduction of income-based disparities in health outcomes for the WS population. Given that our study sample included families with relatively high incomes, further study is needed to understand in the WS population specifically what income-based health disparities might exist.

Other demographic characteristics commonly associated with increased barriers was distance to a provider that is extremely knowledgeable about WS. While increasing the number of WS specialty clinics may have the potential to reduce the aforementioned barriers to care, for many families there continues to be significant reliance on local general practitioners to provide essential and convenient care. It is reassuring to see the majority of families very confident in their PCP’s knowledge in caring for their child; however, only 15.1% of parents rate their primary care provider as being extremely knowledgeable about WS specifically. Future endeavors focused on increasing primary care knowledge of WS appears to be a necessary focus. The American Academy of Pediatrics Committee on Genetics published updated health care supervision guidelines for children with WS (Morris & Braddock 2020) that are intended for primary care providers. A previous study evaluating pediatrician adherence to health care supervision guidelines for the Down syndrome population, a relatively similar population in terms of medical complexity and developmental needs, demonstrated overall poor adherence (O’Neill et al., 2018). Future research could consider evaluating pediatrician adherence to the WS health care supervision guidelines with a goal of identifying specific opportunities for continued advocacy and education. A focus on increasing communication between larger centers with WS specialty clinics and local clinics, potentially through the use of telemedicine, could additionally be of benefit.

In the multiple linear regression models, distance to WS provider was only significantly associated with the expectations subscale after adjusting for age, income, location, and PCP knowledge of WS. As stated previously, the expectations subscale assesses parent expectations of receiving poor-quality care. The etiology of this association requires further research, but perhaps by nature of living distant from a provider with expertise in WS, caregivers are expecting to receive poor-quality care due to an expectation of local providers having poor knowledge of WS.

Survey respondents represented a convenience sample and were either currently enrolled in the Williams Syndrome Association Research Registry or attending the Williams Syndrome Association National Convention. These individuals may be better connected versus individuals not engaged with the Williams Syndrome Association and therefore account for the high total BCQ scores seen in our study. Approximately 50% of our participants came from either the Midwest or Northeast, areas in which there are an increased number of WS clinics as compared to the remainder of the US; however, there was not a significant difference in total BCQ scores when comparing different regions. Given that our study only included a US sample, we were also unable to access barriers to care for international individuals with WS. It should also be noted that in our sample, non-white, Hispanic, and less affluent participants were under-represented in this cohort. The survey was only distributed in English so non-English speaking families may have been unable to participate, limiting generalizability to these populations.

46% of our sample also represented parents/caregivers of individuals with WS older than 18 years old, which may decrease the strength of the finding that younger children face more barriers to care. It may also be that the BCQ does not encapsulate the barriers to care for adults with WS as the tool was developed to examine barriers to care in children, rather than adults, with special healthcare needs. It is important to note that our analysis is limited by respondent bias as all results are based upon parent perspectives. In the future, it would be important to include perspectives of individuals with WS themselves. Finally, this study was also limited by the fact that it was cross-sectional, eliminating the ability to study a temporal relationship between barriers to care and factors included in this study such as age of diagnosis and past experiences with their child’s primary care provider.

In line with the goals of the BCQ, it is our hope that the barriers identified in this study be modifiable factors with the capacity to change. Future prospective studies, potentially using the BCQ as a process measure (Seid et al. 2009), could study the effect of such interventions. Further studies in the WS population could additionally explore primary care quality or health-related quality of life, similar to the initial study that described the BCQ (Seid et al. 2004). Although this study focused on a US-based population, it stands within reason that individuals with WS internationally may face similar barriers to care, as was seen in the study conducted by the Polish Williams Syndrome Association (Domaradzki and Walkowiak 2024). Specifically, individuals living in rural areas and younger children are likely to benefit from enhanced systems of support which emphasize not only early diagnosis, but also early access to developmental supports so as to optimize developmental outcomes.