Parents' perspectives on provided health care for adults with Down syndrome: A qualitative interview study
Abstract
Background
A comprehensive multidisciplinary medical guideline for adults with Down syndrome is lacking in the Netherlands. In this study, we aim to explore parents' views on multidisciplinary care and identify which aspects of health care they find most important in the context of developing such a guideline.
Method
This qualitative study used semi-structured interviews. Nineteen interviews were conducted with parents of adults with Down syndrome. The main themes and subthemes were identified from the transcripts by using the framework method.
Results
Four main themes were identified which should be addressed in the guideline according to the parents: parents' support in medical care, patient-centred care, important medical topics and the organisation of medical care.
Conclusions
This study provides insights into parents' opinions about medical care for adults with Down syndrome. These insights are used in the construction of a guideline to improve medical care for adults with Down syndrome.
1 INTRODUCTION
Although the exact numbers are unknown, the estimated population of adults with Down syndrome in Europe was 419,000 individuals in 2015 (de Graaf et al., 2021). In the Netherlands, Down syndrome is the most common chromosomal abnormality among newborns, with a live birth prevalence of 9.9 per 10,000 births (Groot-van der Mooren et al., 2021).
People with Down syndrome encounter various health problems during their lives, such as thyroid disease, sleep apnoea, congenital heart disease, hearing impairments, haematological disorders and osteoporosis (Capone et al., 2018; Capone et al., 2020; Coppus, 2017; Tsou et al., 2020). Each stage of life is associated with its own health problems (Startin et al., 2020). For example, their health care needs can change as a result of age-related problems such as Alzheimer's disease (Bayen et al., 2018; Glasson et al., 2014). Therefore, it is important that health care is tailored to the different needs in the different stages of life.
People with Down syndrome often visit multiple different health care professionals. Children with Down syndrome are usually seen by a paediatrician, who can coordinate medical care according to Down syndrome guidelines for children (Bull, 2011; Bull et al., 2022). These guidelines advise regular health checks for children. However, despite the knowledge of health problems in all stages of life, research shows that adults with Down syndrome often do not receive regular health checks (Ahlström et al., 2020; Henderson et al., 2007; Määttä et al., 2011). International medical guidelines for adults with Down syndrome, that have been written, do recommend regular health checks (Capone et al., 2018; Capone et al., 2020; Tsou et al., 2020). Yet the Netherlands lacks an integrated multidisciplinary guideline with recommendations for providing high-quality care to adults with Down syndrome. Therefore, a project has been started to construct such a guideline, which can promote a more patient-centred approach in medical care for adults with Down syndrome in the context of the Dutch health care system. This study contributes to the contents of this guideline.
In order to address the most important health-related issues in this new guideline, it is important to involve stakeholders. Patients and their representatives, usually the parents, are needed in this process to better understand the patient perspective (Chung et al., 2021; Petkovic et al., 2020). In this study, we aimed to further explore representatives' views on multidisciplinary care and identify which aspects of health care they find most important in the context of future guidelines. The following research questions are addressed: What is the opinion of representatives of adults with Down syndrome regarding the health care provided? What are important issues in the medical care for adults with Down syndrome? Which disciplines should be involved?
2 METHOD
2.1 Study design
This study had a qualitative design using semi-structured interviews and adheres to the consolidated criteria for reporting qualitative research (COREQ) (Tong et al., 2007). This qualitative method is suitable for openly exploring representatives' opinions while also focusing on predetermined topics. The interviews were conducted by a research assistant with experience in the field (MdK). All of the interviews were transcribed verbatim. The qualitative analysis was executed by our research team consisting of three female authors (EB, TC and LV), all of which were experienced in providing health care to people with an intellectual disability, as well as undertaking research in this population. Two authors (EB and TC) are intellectual disability physicians, which are specialised medical physicians with a three-year postgraduate training in providing medical care for people with an intellectual disability. The study was approved by the METC on 18 February 2019 (nr 2019-5184).
2.2 Participants and setting
Participants were approached at a representatives' meeting and through ‘Stichting Downsyndroom’, which is a parent organisation that represents the interests of people with Down syndrome. All representatives of a person with Down syndrome >18 years were eligible and could sign up for the interviews. Those who were interested were approached by telephone. A total of 21 participants gave written informed consent; all participants were parents of adults with Down syndrome and resided in the Netherlands. Seventeen interviews were conducted with individual parents, all mothers, while two interviews were conducted with parents as a couple. No participants dropped out. All interviews took place in the period from August to September 2019, by phone from within a university research department. Participants did not know the interviewer prior to the interviews, only researchers' names and credentials; the purpose of the interviews was mentioned in advance. Some of the adults with Down syndrome were patients at an outpatient clinic where one of the authors (TC) worked; however, this author did not participate in the interviews.
2.3 Data collection and analysis
A list with pre-set topics constructed by the researchers was used as an interview guideline. The list of topics was not pilot-tested but was based on previous research concerning the quality of health care for people with Down syndrome (van den Driessen Mareeuw et al., 2020). Topics were further explored by asking in-depth questions. The interview guide can be found in Supplementary Material S1. All interviews were audio recorded and transcribed; no field notes were made during the interviews. The mean duration of the interviews was 58 min. No repeat interviews were carried out and feedback on the transcripts was not given. However, after the analysis, a participant check was performed. Baseline characteristics of the adults with Down syndrome can be found in Table 1.
n | |
---|---|
Sex | |
Male | 11 (57.9%) |
Female | 8 (42.1%) |
Mean age, years (range) | 25.7 (17–41) |
Living situation | |
At home with parents | 6 (31.6%) |
Assisted living facility | 13 (68.4%) |
All authors participated in the process of coding the transcripts. Each interview was coded consecutively by at least two researchers, with the use of Atlas-ti software version 8.0. If two researchers did not agree, a third researcher was consulted, and the item was discussed until agreement was reached. Transcripts were processed and analysed by using the framework method, which differentiates several stages in coding. The structured approach of this method helps to recognise patterns and identify themes with enough supporting evidence (Gale et al., 2013). The first transcripts were coded openly, without predefined codes, to identify all subjects discussed during the interview. Then, after processing several interviews in this way, an analytical framework was constructed. This framework was used as a starting point for coding the rest of the interviews. When needed, the framework was expanded or adjusted when new themes occurred. A description of the coding tree is available in Dutch upon request. After all interviews were coded, the main themes were identified and data were summarised for each. Relevant quotes were identified and reported.
2.4 Participant check
Additionally, after the analysis was completed, five parents who had not previously participated in the interviews were asked to give feedback on the results. Three of them agreed to participate. A summary of the results was presented to these parents in order to gain additional feedback.
3 RESULTS
Analysis of the transcripts resulted in several main themes and subthemes. We identified four main themes: 1. parental support in medical care, 2. patient-centred care, 3. essential medical topics and 4. the organisation of medical care. Each theme comprises two to four subthemes.
3.1 Main theme 1: Parental support in medical care
The first main theme concerns parental support in medical care. Parents would like the medical guideline to contribute to the better coordination of medical care to support them in their role as a parent.
3.1.1 Subtheme 1.1: Coordination of medical care
“I really hope a good guideline [for adults] will be made, similar to the children's [Down syndrome] guideline. … So that good medical care can be arranged, without every parent having to search for themselves every time, like, okay, where can I find this? If I encounter a problem, is that related to Down syndrome or is it coincidental?” OU4
Parents are experts in recognising the care needs of their children; therefore, they emphasise the importance of their role as a parent.
3.1.2 Subtheme 1.2: Arranging medical care
“People with Down syndrome more often get Alzheimer's disease, among other diseases and it made me think: well, as a parent or support staff you should just ‘happen’ to know that by coincidence.” OU15
“Well, that actually is a big concern for me. Because, you see, now I go everywhere … but what if I get hit by a bus tomorrow? Who is going to deliver this care? I have no idea.” OU13
3.2 Main theme 2: Patient-centred care
According to parents, guidelines should include a proactive approach of medical care tailored to the needs of the individual with Down syndrome.
3.2.1 Subtheme 2.1: Proactive medical care
“I think it is very important that everything is monitored and looked at… Are there any changes going on? So you can intervene in time. I noticed that our child can do a lot, but she can't say: ‘Gosh, I think my vision is deteriorating’. That's too difficult for her.” OU3
However, some parents think that pro-active health checks cause medicalisation of the lives of adults with Down syndrome. Furthermore, it should be taken into account that all medical procedures can have a great impact on the wellbeing of people with Down syndrome. Therefore, redundant diagnostic testing should be avoided.
3.2.2 Subtheme 2.2: Patient (and parent)-centred approach during consultation
“That they address her correctly and that she is given enough time and things like that. Not use too complicated words, not talking to me but to her, you know. … If we want people with Down syndrome to participate in society, then that's part of it too.” OU6
In addition, since parents are experts in their child's well-being, professionals should really listen to them when there are concerns.
3.2.3 Subtheme 2.3: Affinity with people with Down syndrome
“At the moment I have to explain every time that it concerns someone with Down syndrome. Well, not every doctor is equipped for that; so then I also have to ask, is it someone who knows something about that [syndrome]? And who can communicate with them?” OU 15
Parents consider long-term involvement of the same health care professional to be a contributing factor to good medical care.
3.2.4 Subtheme 2.4: Quality of life as a starting point
“Due to thrombosis, he also missed a school camp, where he couldn't go to. Because of his pneumonia he missed his Christmas dinner at school once. … He has missed a lot of activities, because he had to be admitted [into hospital].” OU 8
3.3 Main theme 3: Important medical topics
The third main theme concerns the content of medical care. Parents mentioned different medical problems that should be addressed in the medical guidelines. In addition, they referred to different health care professionals, who often play an important role in the medical care of adults with Down syndrome and should therefore also be involved in the development of guidelines.
3.3.1 Subtheme 3.1: Common medical problems in adults with Down syndrome
“The podiatrist, the eyes, the orthodontist he visited. That was in the VU [hospital], but that was not part of the Down-team so you have to make a separate appointment. Orthopaedics, also a separate appointment. Physical therapy of course, we went twice a week. Speech therapy.” OU 19
Medical problemsa | |
Hypothyroidism/hyperthyroidism, musculoskeletal problems, skin problems, obesity, epilepsy, dental problems, infections, malignancies, congenital anomalies, diabetes, constipation, celiac disease, sleep apnoea, depression, cardiac anomalies, Alzheimer's disease, thrombosis | |
Health care professionalsb | |
Physicians | General practitioner, intellectual disability physician, cardiologist, internist, neurologist, dermatologist, gynaecologist, orthopaedist, ENT specialist, ophthalmologist, pulmonologist, geriatrician |
Other | Physical therapist, occupational therapist, speech therapist, dietician, psychologist, podiatrist, remedial educationalist, sexologist, dentist, dental hygienist |
- a Including current problems, problems encountered in the past or problems feared for the future.
- b Either involved (in present or past) or desired by parents to be involved.
Parents also reported a wide range of behavioural and mental problems. Topics such as relationships, sexuality and the desire to have children also need attention. In addition, most parents mentioned the increased risk of health problems with aging; they want health care professionals to be aware of that.
3.3.2 Subtheme 3.2: Involvement of all relevant stakeholders
“We have excellent experiences with regular health care. But what we missed… is a specialized intellectual disability physician, who knows which medical problems people with Down syndrome … can get and who focuses on that.” OU10
Parents have varying experiences with the involvement of general practitioners (GPs). Not all GPs have great affinity and knowledge with regard to people with Down syndrome.
3.4 Main theme 4: The organisation of medical care
Parents suggested that there should be more attention for the transition of medical care during adolescence. The guideline should address the need for a coordinating physician and a multidisciplinary approach toward medical care.
3.4.1 Subtheme 4.1: Transition of medical care during adolescence.
“Then he turned eighteen and the paediatric cardiologist said, well I can't help him anymore. It turned out, there was actually no follow up. … They say he is ‘in transition’, which actually comes down to the fact that one doctor already said goodbye while there isn't a new doctor yet.” OU13
3.4.2 Subtheme 4.2: Coordinating physician
“A sort of case manager, preferably a physician. … Someone who knows specifically what problems can occur and who is the first point of contact. Who also knows which medical specialist is specialized in [Down related] problems and can approach [people with Down syndrome] in a positive manner, that would be nice.” OU11
Several parents mention the GP or the intellectual disability physician as those who can have that coordinating role.
3.4.3 Subtheme 4.3: Multidisciplinary approach
“Those hospitals don't communicate with each other at all. … When I get reports on something, which I have to request myself, I have to copy them all for other doctors all the time. Yes, it's a lot of work, painstaking work.” OU 13
Furthermore, parents prefer the medical care to be clustered, for example in a multidisciplinary outpatient clinic for adults with Down syndrome.
3.4.4 Subtheme 4.4: Rules and financial issues
“After he turned eighteen, he visited an intellectual disability physician for a while. To our regret, at some point that couldn't be arranged any more. It wasn't insured.” OU 10
3.5 Participant check
Parents who took part in the participant check recognised almost all the results and confirmed the importance of these themes for the medical guidelines. Patient-centred care, a multidisciplinary approach and proper communication between professionals and individuals with Down syndrome were considered the most important results. In particular, parents' roles as experts in the care needs of their children was highly recognised. They agreed that there is a need for a coordination physician, but also wanted to emphasise that this could not replace their role as parents. Too many preventive tests and doctor visits can be a burden for adults with Down syndrome; therefore, this should be taken into consideration. However, they considered proactive care to be valuable. This emphasises the diversity of the group of people with Down syndrome (and their parents). Last but not least, one parent emphasised that life events such as reaching adulthood and other psychological stressors can negatively influence various health problems. Therefore, it is important to pay attention to psychological wellbeing as well.
4 DISCUSSION
4.1 Summary
This study explored the opinions of parents of adults with Down syndrome regarding the provided health care. It focused on which aspects are important in medical care and which disciplines should be involved. Four main themes were identified: Parents' support in medical care, patient-centred care, important medical topics and the organisation of medical care.
Parents often coordinate the medical care for their adult child themselves, which can be challenging. Also, when it comes to visiting a doctor, the caregiver's medical knowledge and their ability to recognise health problems in a person with Down syndrome is extremely important and challenging.
Most parents think that it is important that their son or daughter receives a pro-active health check. However, some parents believe that this leads to medicalisation of the lives of adults with Down syndrome. Furthermore, parents also consider it important for health care professionals to have specific knowledge about individuals with Down syndrome and can adjust their communication to their needs. Parents report a wide range of medical issues that people with Down syndrome encounter during their lives. Additionally, non-medical labelled issues such as behavioural problems, mental problems and sexuality are important issues too. Parents would also appreciate the involvement of medical specialists and paramedics, preferably collaborating in a multidisciplinary outpatient clinic for adults with Down syndrome. The involvement of an intellectual disability physician, because of their expertise, is mentioned as added value.
Almost all parents experience problems in the transition of health care at the age of 18. Either the GP or the intellectual disability physician is mentioned as a possible coordinator of medical care from the age of 18 onwards.
4.2 Strengths and limitations
After approximately three-quarters of the interviews with parents of adults with Down syndrome, saturation was reached and no new topics occurred. Therefore, we believe that we successfully identified the most prevailing opinions. Another strength of this study is the fact that it explicitly focuses on adults with Down syndrome. Most studies concerning parents' opinions focus on children with Down syndrome, while other research about the experiences of families of adults with Down syndrome are mostly focused on a specific part of health care, such as oral health care or Alzheimer's disease (Carling-Jenkins et al., 2012; Kaye et al., 2005). In contrast, we focused on holistic medical care in this study.
A limitation of this study is that parents could sign up to take part in the interviews but baseline characteristics of the parents were not collected. An unintentional selection may therefore have taken place. This could have influenced the results in either a positive or negative way. For example, parents of adults with Down syndrome with very little health problems, could be less motivated to invest time in participating in a study, since they may not have encountered problems in medical care. On the other hand, parents who are deeply involved in their child's medical care and are experiencing difficulties may be more interested in participating to share their views.
Another limitation is that the interviews were conducted by phone. Participants can perceive this setting as less personal and may therefore have felt less free to express all their thoughts. In this study, we did not collect data on the level of intellectual disability of the adults with Down syndrome. In future research it could be interesting to investigate if the level of intellectual disability correlates with differences in experiences in medical care.
4.3 Comparison with existing literature
The problems experienced with the transition of care in our study are in line with the findings of other studies focused on the transition of care for children with Down syndrome and adolescent and young adults with intellectual disability (Franklin et al., 2019; VanZant & McCormick, 2021). The same applies to parents' views about the importance of good communication and knowledge about Down syndrome, which are also mentioned in the field of oral health care (Kaye et al., 2005).
Our findings are consistent with a previous study about the quality of health care for people with Down syndrome (van den Driessen Mareeuw et al., 2020). As in our study, parents consider it important for health care professionals to have specific knowledge about Down syndrome and can adjust their communication. Also, similar findings in this study are the concerns of aging parents who cannot continue to provide and manage care in the future. Additionally, as in our study, they wish to cluster care in a multidisciplinary outpatient clinic for adults with Down syndrome.
Furthermore, previous research about important topics in the lives of people with Down syndrome showed the relevance of topics such as relationships (van den Driessen Mareeuw et al., 2023). In our study, parents mentioned that topics such as relationships, sexuality and the desire to have children are important to address in a multidisciplinary guideline.
4.4 Implications for research and practice
This study provides insights into what parents consider important for the medical care of their adult children with Down syndrome. These insights will be used in the construction of a multidisciplinary guideline for the medical care of adults with Down syndrome, to ensure that the most pressing issues are addressed. People with Down syndrome have been interviewed as well; their judgement falls outside the scope of this article but is certainly important to take into account when constructing a guideline.
Our findings suggest that small changes in everyday practice such as a proactive approach, better communication between involved parties (i.e., parents, care professionals, physicians) and taking more time for a consultation can contribute to the quality of health care for people with Down syndrome. Furthermore, the transition of medical care to a new coordinating professional, like a GP or intellectual disability physician or intellectual disability nurse, should be arranged for every person with Down syndrome who reaches adulthood. In other countries, specialised intellectual disability nurses already play an important role in health advocacy for people with an intellectual disability (Jaques et al., 2018).
Moreover, the education of health care professionals is needed in order to improve their knowledge of Down syndrome-related health issues and communication with people with intellectual disabilities in general.
5 CONCLUSION
In this study, we explored what parents considered the most important topics in medical care for adults with Down syndrome, in the context of a future medical guideline. These findings can be used to improve medical care for this group. Future research should focus on the opinions of adults with Down syndrome themselves, so that they can also have a say in the guidelines.
ACKNOWLEDGEMENTS
The authors would like to thank all participating parents for their time and their willingness to participate in our study. Furthermore, we would like to thank ‘Stichting Downsyndrome’ for their assistance in recruiting participants.
CONFLICT OF INTEREST STATEMENT
The authors have no conflicts of interest to declare.
Open Research
DATA AVAILABILITY STATEMENT
The data that support the findings of this study are available from the corresponding author upon reasonable request.