Caregivers of younger children with fragile X syndrome (FXS), and those with lower family incomes, report more difficulties in accessing specialized healthcare in the U.S., a recent study found.
Moreover, nearly 40% of the caregivers surveyed think their child’s doctor is not knowledgeable enough about the disease, even though most feel respected and heard by their doctors.
The study “Health care for individuals with fragile X Syndrome: Understanding access and quality” was published in the journal Disability and Health Journal.
Prior research indicates that individuals with intellectual or developmental disabilities may face greater challenges in accessing quality healthcare. Patients may lack transportation to providers’ sites, care facilities may be inaccessible or difficult to reach, or it may be hard to find primary care providers who have the sensitivity and experience to deal with disabilities like FXS.
Families affected by FXS, the leading hereditary cause of intellectual or developmental disabilities, also share many of these problems. One of the most reported is the difficulty in confirming a diagnosis, which makes “families spend significant time and money seeking answers to what is wrong with their child(ren),” researchers wrote.
Having a better understanding regarding the experiences of FXS patients and their families with the healthcare system can help guide efforts to educate medical professionals and improve overall care.
In the U.S. there have been no endeavors to specifically address this issue. But now, researchers at RTI International evaluated parent perceptions of access and quality of U.S. healthcare services for children with FXS.
A large national sample of 596 caregivers of at least one child with FXS (age 3 or older) completed an online survey regarding access, barriers, and quality of healthcare for their diagnosed family members (a total of 731 patients).
The survey asked about the difficulties in gaining access to a primary care provider, access to allied health and therapy services, and the quality of healthcare services for individuals with FXS during the previous 12 months.
Answers revealed that about half of the caregivers had some type of difficulty in accessing a qualified care provider, with 19% reporting feeling frustrated in getting specialty services.
Although most of the families surveyed did not consider the services’ cost, availability, or the eligibility of patients as barriers to care access, those taking care of a younger child or who had a low family income reported greater challenges in accessing healthcare.
Older patients were less likely to have problems in eligibility, availability and cost of services.
This may happen as caregivers with longer experience in taking care of a child with FXS know better how to navigate the health care system, compared to caregivers of younger children who may have less experience.
Families with lower incomes reported an increased struggle to obtain quality care. Compared with families with annual incomes above $100,000, families whose incomes were lower than $50,000 per year were more likely to perceive availability and cost of services as barriers and express higher levels of frustration with accessing services.
In addition, a significant proportion (38%) of caregivers felt that their child’s doctor was “not at all” or only a “little” knowledgeable about FXS.
Despite this perceived knowledge gap on the part of providers, most doctors were said to always explain things in a way that the caregiver could understand (55%), involve them in decisions (81%), and respect their decisions regarding their child (63%).
“It is encouraging that families mostly report high quality indicators such as feeling respected and heard by their child’s physician,” researchers wrote.
This attitude can promote the engagement of caregivers and contribute to a model of collaborative decision-making, where the respect for the patient’s autonomy is maintained.
A model like this is likely to improve patients’ quality of life and well-being and promote supported decision-making for the patients’ themselves.
Another positive indicator is that children with FXS seem to be getting access to services earlier, “perhaps reflecting the national efforts to find children at risk for delays.”
Most of those younger than 12 at the time of the study received services before age 3 (88%), whereas only 38% of those older than 25 received services before that age.
But the results also suggest that “more is needed to help reach the most vulnerable families (e.g., those from lower socio-economic backgrounds).” Families with lower incomes or lower maternal education may experience greater challenges in accessing quality care.
“These factors represent potential barriers to quality health care for individuals with FXS, with potential lifelong effects ranging from delayed age of diagnosis to difficulty accessing a PCP [primary care provider] in adulthood,” researchers wrote.
Thus, more efforts “to reach these families and assist them in obtaining access to physicians who are knowledgeable and listen to their concerns may be needed to ensure greater equality in care.”
This study provides insights that may help guide future research as well as practice and policy decisions.
Future studies need to explore the experiences of a more diverse and representative sample of families as the group of caregivers studied this time were primarily well-educated, and often of higher socioeconomic status. Also, the researchers added, upcoming studies should include other important factors, including the opinions of individuals with FXS.