This is the first survey of patients and families to assess knowledge of EDS within 3 months after a diagnosis of EDS is made to determine patient and family concerns about diagnosis and care as well as identify causes of discomfort with EDS for patients and families. About half of the surveyed patients and parents had a general familiarity with EDS prior to the diagnosis. Among parents, most of their familiarity was obtained from medical providers, while a higher proportion of patients obtained additional information from social media. As expected, the percentage of both parents and patients that accessed online education about EDS was higher after the diagnosis of EDS compared to pre diagnosis. While it would be expected that all patients and families receive education about EDS after the diagnosis, 42% of parents and 33% of patients reported that they were either not provided or were unsure if they were provided with such education. Our findings about exposure to EDS education are especially important given that many patients and parents felt that a lack of educational materials were a barrier to their knowledge and comfort with EDS. Participants’ perceptions about their limited knowledge about EDS and access to educational materials may be reflective of either a dearth of available physical materials or a feeling that the available materials lacked specifics about the condition. However, this is clearly an area of opportunity to develop and improve educational offerings for patients and families.

While educational materials are commonly distributed or referenced after a medical diagnosis is made, there may be additional challenges to overcome and opportunities for improvement in post-EDS diagnosis education to improve the successful transmission of EDS knowledge to all patients and parents. Although not directly assessed with the current survey, patients and parents may be overwhelmed with a new diagnosis and all the potential comorbidities associated with EDS [18] so clarity must be established for the patient and parent about the specific EDS subtype. The EDS subtypes could be an area of possible confusion and they may not be aware of the multiple subtypes or the subtype they have been diagnosed with specifically. Further confusion may lie in the large variability in severity among and within the various EDS subtypes [19]. Additional confusion or uncertainty about the diagnosis of EDS may exist for patients and families due to either a lack of genetic testing or negative results from genetic tests that are performed. This may be most problematic for those with the hypermobile subtype as there is no definitive genetic test and diagnosis must rely solely on clinical criteria [1]. The lack of genetic testing may confuse patients and parents if they had expectations that genetic testing would be required for a diagnosis of a heritable connective tissue disease. Additionally, when newer diagnostic criteria and frameworks [20] are introduced, it can cause increased anxiety and confusion for patients and parents as a family member may have a diagnosis removed or changed. A focus on EDS subtype-specific educational materials may be warranted to overcome these challenges. This may provide an opportunity to improve how EDS information is provided, such as routine post-visit consultations to provide additional information, or other varied modalities such as hand-outs with visuals, online resources, and online patient advocacy groups.

Of note, most parents were Caucasian females, and many of the parents had a diagnosis of EDS or were under evaluation for EDS. This is consistent with previous reports that show adult females are most affected demographic of those with EDS [21], which is thought to be related to the influence of female sex hormones [22]. Additionally, due to the parents personal history they may have been more interested or empathetic to the patient and their needs, which could explain the higher percentage of Caucasian female parents. Further, this could be explained by the division of household labor, with women assuming more of the childcare duties [23]. Additionally, there was a higher percentage of gender diverse patients, which has been previously described in patients with EDS [24].

Roughly half of respondents indicated no prior knowledge of EDS. Even if these families were provided with appropriate EDS education at diagnosis, the provision of medical education does not necessarily equate to comprehension. Given the amount of information that can be provided, and often lengthy clinic visits, patients and their families may become fatigued and overwhelmed by the amount of information. While clear educational materials are one strategy to consider, additional planned follow-up clinic visits or communications may provide the opportunity for families to seek clarifications, ask additional questions, and review their understanding from their clinic visit. The use of education coordinators for newly diagnosed patients has been utilized successfully in pediatric diabetes to improve adherence and disease outcomes and are part of recommended standard care [25]. A similar role may provide useful in the education and management of EDS.

While patients and parents were generally comfortable with their knowledge of EDS, symptoms, and management, there were other areas of noted concern. One such area was in the differentiation of symptoms related to EDS versus other health conditions. This is a difficult area to tackle as there are many symptoms and conditions that overlap with EDS. Medical providers need to educate families on common symptoms that may be experienced and be ready to investigate symptoms that are more ominous to ensure optimal health. This paradigm may be difficult for providers, especially as many are not comfortable with EDS or management of EDS [11]. Further, in this survey parents noted concerns and barriers related to their confidence in their providers’ knowledge of EDS. When patients or parents are uncomfortable with their provider or medical care, it may lead to lack of faith in the medical establishment and result in patients and parents to look elsewhere for healthcare guidance [16]. There is an urgent need for clinical guidelines for the treatment and management of patients with EDS to increase awareness of both common and rare comorbidities and symptoms so that appropriate evaluations and tests can be conducted in a timely manner, patients can be monitored for future comorbidities and problematic symptoms, and to provide a clear framework for initial symptom management, which could potentially improve patient confidence in the recommendations that are provided.

Understandably, we see that after diagnosis of EDS, parental concerns rise in all categories as parents learn more about EDS and possible comorbidities. For patients, EDS concerns before and after diagnosis are mostly the same except for increased concern about long-term outcomes after diagnosis. This may be due to patients’ developmental stage prior to diagnosis where their long-term health may not be as important to them as other areas of life. Their concerns may increase with age as new symptoms arise and efforts are made to better understand new symptoms in context of their overall EDS diagnosis. Further, patients may begin to have more concerns or questions as they transition into adult care and are more responsible for managing their own health. Currently, little is known about the needs of pediatric patients with EDS as they transition to adulthood, nor are there clear recommendations on transition pathways for these patients.

The results of this survey show that there is a continued need to develop educational interventions for patients and families, especially shortly after diagnosis of EDS. Differences between how adolescents and their parents have obtained information speaks to the need to develop different educational programs and strategies for parents compared to their child or adolescent. Given the role that patient networks can play in the dissemination of medical information, there may be a role for social-media specific EDS knowledge dissemination directed towards youths with EDS, however, a previous report in adult patients with EDS shows that clinicians do not routinely provide social media guidance for patients to make use of online resources effectively, appropriately, and safely [26]. Despite this, newer information has emerged that provides recommendations on approach to integrate social media into patient care that was develop from interviews with patients with EDS [27]. Educational efforts aimed at youths with EDS may help improve knowledge and understanding of EDS earlier in their medical journey and help guide long-term management of symptoms and ultimately improve outcomes and QoL [28]. As educational materials and interventions are developed and distributed, for both patients, parents, and for medical providers [11], it will be important to elicit feedback from patients, their families, and medical providers so that the information provided addresses the knowledge gaps and concerns most appropriate to the patient or provider population, which should build confidence in their ability to effectively manage the condition.

Our study has several limitations. The survey was completed locally and thus the findings may not be generalizable to larger groups in different geographical regions. Additionally, our institution has a multidisciplinary EDS clinic that serves the region, and our survey participants may have more exposure to and awareness of EDS than the larger patient population—though, this study may overestimate family knowledge of and comfort with EDS. In general, we expect the barriers reported in this study to be present and potentially more profound in areas without a multidisciplinary EDS clinic. Recall bias may also be present as participants were asked to recall concerns prior to the diagnosis of EDS when they completed the survey, however, the timeframe between diagnosis and survey was three months or less and the results of this study are consistent with the expectation that concerns could increase as more knowledge is gained. Additionally, there were only patients with hEDS in this study, so findings here may only be applicable to those with hEDS compared to other EDS subtypes. Further, this study was conducted prior to the publication of the 2023 pediatric joint hypermobility framework [20] and may not accurately represent the concerns of patients and parents related to the updated diagnostic criteria in the pediatric population. Additionally, sample size and power analysis were not performed for this study, and the electronic survey has not been previously validated.