Impact of contractures on daily functioning in adolescents with spinal muscular atrophy: a qualitative study

Abstract

Purpose

Exploring the impact of contractures in adolescents and young adults (AYA) with spinal muscular atrophy (SMA) on daily functioning and participation and the impact of received contracture management.

Methods

We included 14, non-ambulant AYA with SMA types 2/3 (10 females and 4 males), aged 16–30 years. Interviews focused on two topics: perceived impact of contractures on daily functioning and of previous contracture management. We used inductive thematic analysis for interview analysis.

Results

In general, participants experienced muscle weakness to be more of a hindrance than contractures; they had adapted to their contractures over time. Participants considered contracture treatment useful when goals were meaningful and realistic. Participants mentioned that their perspective on contracture management would change in light of a promise of improved motor function due to disease-modifying treatment.

Conclusion

Despite the relatively low impact of contractures in comparison to the loss of muscle strength, non-ambulant AYA with SMA should be informed on the potential impact of contractures and benefits and potential adverse effects of their management. This information can support the shared decision-making process. While respecting individual choices, allows for incorporating interventions into daily life and the promotion of daily functioning and participation when children with SMA are growing up.

IMPLICATIONS FOR REHABILITATION

The variability of the perceived impact of contractures in non-ambulant adolescents and young adults with spinal muscular atrophy (SMA) underscores the need for individualized assessment and contracture management based on discussions about challenges, benefits and burden.

In the treatment plan for contracture management in SMA it is important to take into account: 1) that adolescents often experienced physiotherapy as additional comfort, with less feeling of stiffness, and 2) that most perceived orthosis and standers as unnecessary and burdensome as contracture management.

Clinicians should consider postural management in an early stage given the improved prognosis on motor development of children with SMA.

Clinicians should monitor and revisit treatment goals, benefits and adverse effects on a regular basis as part of the shared goal-setting and decision-making in contracture management for children with SMA.

Keywords:

• Spinal muscular atrophy
• contractures
• treatment
• adolescents and young adults
• daily functioning

Introduction

Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease, caused by the homozygous loss of function of the survival motor neuron (SMN) 1 gene [1]. It demonstrates considerable variability in severity. The SMA classification system uses age at onset in combination with achieved motor milestones to distinguish types 1 to 4 [2].

Muscle weakness is a common feature in children with SMA, a disorder associated with secondary musculoskeletal impairments, in particular loss of joint mobility and the development of contractures [3]. Currently, nearly all children and adults with SMA develop contractures at some stage in life. Prevalence of contractures in SMA varies with age, SMA type, walking ability (ambulatory vs non-ambulatory), and joints affected, with a reported range from 22% to 100% [3]. The introduction of SMN2 splicing modifying therapies, such as nusinersen (Spinraza®) and risdiplam (Evrysdi), and SMN1-gene therapy (Zolgensma/Onasemnogene abeparvovec), has changed the natural history of SMA, characterized by progressive muscle weakness [4,5], into one of prolonged motor development in young children to improved muscle strength in older individuals [6]. This has made pro-active contracture management even more important than before [7] since sufficient joint range of motion is necessary to benefit from the increase in muscle strength. Prevention of contractures has, therefore, become a central goal of rehabilitative management [7].

Contractures are assumed to have a large impact on daily functioning and comfort in SMA [8]. Contractures in the arms and hands can limit activities such as eating, wheelchair use, and computer/smartphone use, while contractures in the legs may interfere with standing [9] and foot deformities may lead to difficulties with fitting shoes. However, data on the perceived impact of contractures on daily functioning in children and young people are scarce, and several systematic reviews challenge the efficacy of interventions aimed at contracture treatment in neuromuscular and neurological disorders [10–17].

In order to rationalize supportive treatment, we require greater insight into the perceived impact of contractures on daily life with SMA and in the perceptions of received contracture management. The aim of this study was to document the experiences of adolescents and young adults (AYA) with SMA with contractures (both the impact of contractures and the impact of contracture management), with the overarching goal of improving the care for a new generation of children with SMA treated with disease-modifying treatment (DMT). More specifically, we explored the opinions and ideas of AYA with SMA on the perceived impact of contractures on their daily functioning and on their participation, as well as how they experienced interventions to prevent and treat contractures during childhood.

Method(s)

We conducted a qualitative interview study with AYA with SMA in whom contractures were present. This study was reported in accordance with the guidelines of the Standards for Reporting Qualitative Research (SRQR) checklist [18].

Our questions during the interviews with adolescents and young adults focused on two major topics:

1. Their opinions and ideas on the perceived impact of contractures on their physical and psychosocial functioning and on their participation in society;

2. Their experiences with received interventions to prevent and treat contractures during childhood.

Participants

A research nurse contacted adolescents and young adults, aged 16–30 years, with SMA types 1, 2, and 3 and persisting contractures, registered on the Dutch SMA database. We recruited a purposive sample of AYA (age, SMA type, and gender) until data saturation was reached, i.e., no new codes emerged from the interviews. Interviews 11 to 14 did not add any new codes, which indicated that saturation had been reached.

In the Netherlands, care for individuals with SMA consists of supportive multidisciplinary care, provided by a regional rehabilitation center and local physiotherapists, in addition to treatment with DMT that is centralized and provided by the SMA Center at the UMC Utrecht.

The Medical Ethics Committee of the University Medical Center Utrecht, The Netherlands classified this study as exempt from the Medical Research Involving Human Subjects Act (19-668); all participants gave signed informed consent.

Research team and reflexivity

The research team was led by AB, a senior researcher with a background in human movement sciences, trained in qualitative methodology and experience in rehabilitation research on neuromuscular/motor neuron diseases. IOL is an experienced pediatric physiatrist working in a university hospital and expert center for SMA. As a medical doctor, her focus is on neuromuscular diagnoses; BBo is a master’s student in medicine performing her research internship in this project. She was not involved in the treatment of AYA with SMA and had no working experience in rehabilitation. She was specifically trained in qualitative research methodology for this project. JWG is a professor of pediatric rehabilitation medicine and head of a pediatric rehabilitation department at a university hospital with expertise in brain-based developmental disabilities and neuromuscular diseases; WLvdP is a professor of neurology specialized in (pediatric) neuromuscular diseases and director of the Netherlands SMA Center; BBa is an experienced pediatric physical therapist, researcher and head of Child Development and Exercise Center of a university hospital. IOL performed all the interviews. She was not involved in the rehabilitation care of the participants.

Data collection

A semi-structured interview guide was developed by the multidisciplinary research team following a review of the literature [9,19,20] and the clinical experience of the team members. Topics included daily functioning with contractures (using the International Classification of Functioning, Disability and Health (ICF) framework [21] as a structure to explore the impact on various activity and participation domains, including social functioning and relationships, self-care, work/spare time/school) and experiences with perceived interventions (Appendix I). All interviews were performed by one interviewer (IOL) who conducted the interviews either face-to-face (before the COVID-19 pandemic) or screen-to-screen (during the COVID-19 pandemic) in the period Nov 2019 – Jan 2021. The interviews were audio-recorded and transcribed verbatim.

Data analysis

Data collection and data analysis were carried out simultaneously in an iterative process. The transcripts were analyzed according to the three phases of directed content analysis as described by Braun and Clark [22]. Trustworthiness was ensured by adhering to each of the following criteria: credibility, transferability, dependability, and conformability. Credibility (the extent to which an interpretation of data is representative of the experiences of participants) was enhanced through purposive sampling (to ensure that a range of views was available to create rich data for interpretation) and discussion of themes and data interpretation within the research team and with peers in the SMA expert center through research meetings. Two researchers (IOL and BBo) prepared by reading several transcripts and familiarizing themselves with the data.

To facilitate judgments about transferability (the extent to which findings might be applied or generalized to other participants in similar contexts), relevant contextual information about participants was reported in the findings.

Dependability (the extent to which a researcher’s interpretation of data would be consistent if repeated) was enhanced through the use of NVivo software (QRS NVivo 12), which facilitated a clear audit trail of the decisions about analysis from initial coding to final themes. In the organizing phase, analysis began with a first set of codes, based on the topic list of the interview. Hence, the first step in the process of coding was inductive. The directed content analysis started with two researchers (IOL and BBo) independently analyzing the first six interviews by assigning codes to fragments relevant to the research questions. They compared and discussed the codes and developed a preliminary codebook using their definitions. A third researcher (AB) helped by commenting on the coding and discussing discrepancies.

While coding the subsequent four interviews, new codes and subcodes were added to the list of codes. This resulted in a final codebook.

We then used this to adjust the coding of the first 10 interviews and to code the remaining interviews. Interviews 11 to 14 did not add any new codes, which indicates that saturation was reached. Analysis of coded data (searching for themes, reviewing themes and defining/naming themes) was discussed by the researchers (AB, IOL, BBo and JWG). The last phase, reporting, consisted of describing the results, using clarifying quotes and highlighting the most important findings (AB, IOL, BB, WLvdP, JWG).

Confirmability (the extent to which the findings of the study are free from bias) was maximized through line-by-line coding of the data (which helped the researcher to stay “close” to participants experiences). The researchers also kept a reflexive log to consider their influence on the collection and interpretation of the data.

Results

Participants

We conducted interviews with a total of 14 participants (10 women and 4 men) with a median age of 24 years (range 16–30 years). Two non-ambulant participants with SMA type 3 and 12 non-ambulant participants with SMA type 2 participated. None of the participants were able to make a transfer to standing. All participants reported contractures in various joints in the upper and lower extremities. The contractures were located in nearly all their joints (Table 1).

Table 1. Personal characteristics.

	Gender	Age, yrs	SMA type	Level of ambulation	Joints affected by contractures (self-report)
P1	M	28	2	Non-ambulant	Hip, knees, ankles, feet and elbows.
P2	F	29	2	Non-ambulant	Back, elbow, knees and mouth.
P3	F	24	2	Non-ambulant	Knees and elbows, possibly the hips too.
P4	M	16	2	Non-ambulant	Every joint has a contracture, but the most difficult are hands and arms.
P5	F	26	2	Non-ambulant	All joints: shoulder, elbow, wrists, hips, knees, feet and ankles.
P6	F	27	2	Non-ambulant	Knees, hips, feet and arms.
P7	M	27	2	Non-ambulant	Hips, elbows, shoulders, fingers, knees and almost every joint.
P8	F	20	3	Non-ambulant	Knees, hips, one elbow and ankles, so just about everywhere.
P9	F	18	2	Non-ambulant	Knees and hips. And a little bit my elbows.
P10	F	30	2	Non-ambulant	Wrists, ankles, neck, shoulders, in every joint there is a contracture, the ones you use the most are your knees, elbows and then your hips.
P11	F	18	2	Non-ambulant	Wrists, elbows, shoulders, hips, knees and feet, almost all joints.
P12	M	24	2	Non-ambulant	Elbows, knees and hips.
P13	F	20	2	Non-ambulant	Legs: feet, ankles, knees, hips. Arms almost no contractures.
P14	F	28	3	Non-ambulant	Hips and legs (knees) and hands.

The qualitative analysis of the perceived impact of contractures on daily functioning revealed two main themes: 1) ongoing adaptation/acceptation, and 2) normalization. Regarding the experience with received interventions to prevent and treat contractures during childhood, we identified three main themes: 1) considerations in regard to contracture management, 2) prevention of contractures and future uncertainties, and 3) DMT and future impact. The findings will be presented in more detail below.

Perceived impact of contractures on daily functioning

In general, participants’ perception was that their contractures did not hinder them in their daily functioning, nor did they mention pain or stiffness associated with the contractures. “I know that I have contractures, but I’m not hindered by the contractures” (P3). Participants mentioned that the impact of the contractures was more significant in the upper than in the lower extremities. Various participants mentioned that contractures of the legs were less impactful as they were completely wheelchair dependent. "I mainly have contractures in my lower extremities, which I don’t really use, so the contractures don’t bother me” (P13) and “To me, there is no need to extend my legs, why should I?” (P8)

For the following activities, participants reflected on the impact of contractures in everyday life and shared some of the strategies they used to adapt.

• Use of arms and hands: participants reported a loss in range of motion of the wrist (ulnar deviation combined with palmar flexion), but not of the fingers, which were mainly described as hypermobile.

• Personal care: changing tight clothes sometimes caused problems, but most of the participants reported that they did not adapt their clothing. ‘It is mostly the problem of the caregiver in my opinion’ (P6), one of them stated.

• Personal hygiene: one participant addressed the problem of abducting her legs for keeping clean her private parts.

• Social-emotional well-being: In general, participants did not feel contractures had an impact on their self-esteem.

• Sexual activities: two of the participants mentioned that contractures complicated positioning. It required more coordination with their partners to find the correct position.

• Study/work/leisure: participants did not mention any specific problem due to contractures in relation to study/work/leisure time.

Although, on the whole, participants did not feel impaired by contractures in daily life, they mentioned situations in which this did happen. Two participants described negative experiences during surgery due to awkward and painful positioning (quotes X and Y).

Quote X: they cast my ankle at a 90 degree angle. The following day I was in so much pain because my muscles were not used to this position - due to the contracture. They removed the cast and the pain was gone immediately. They cast it again in a comfortable position. When I broke my knee a couple of years later, I knew how to advise the doctors to cast it in a comfortable position for me. (P5)

Quote Y: I had to undergo surgery in a supine positioning, but I am not able to extend my hips completely. They positioned me in a supine position and my hips were overstretched. After surgery, the pain due to my hips was worse than from the operation. The second time I had to undergo surgery, I asked for a different position, i.e. on my side. (P1)

Other examples of the perceived impact of contractures were on sexual (Quote X) and reproductive functioning (Quote Y).

Quote X: Positioning with your partner is quite difficult. (P6)

Quote Y: “I was stressed during my pregnancy about whether I would be able to spread my legs enough to give birth’ (P14) and ‘I had to terminate my pregnancy due to my body posture. Because there was too little space, the fetus would not survive. If contractures influence this, which I believe they do, they have a great impact.” (P10)

Ongoing adaptation/acceptation

As described above, many participants stated they usually did not feel impaired by their contractures in their daily activities or social participation. The participants’ explanation was that they had become used to the contractures, as they developed slowly and gradually, at the same time as a decline in muscle strength, during childhood and adolescence. Participants mentioned they had learned how to adapt their daily activities gradually. Also, they stated that they found it difficult to distinguish the impact of contractures from the impact of reduced muscle strength.

“I am used to moving my arm only in a reduced range, because my muscles don’t have the strength to move in the complete range of motion.” (P1)

Normalization

Participants frequently mentioned they wanted to live their life as normally as possible. Although they stated contractures did not have a negative influence on their self-esteem, they did mention that a normal appearance was important. In particular, nearly all participants said they did not want to wear orthopedic shoes as they felt they stood out too much. One of the most important goals the participants mentioned in contracture management was the ability to wear normal shoes during adulthood: “For me the most important thing is that I can just keep wearing normal shoes and as long as that’s the case, it’s fine with me.” (P7)

Participants stated appearance was important when choosing different aids, for example arm support. Some participants explained arm support or a wheelchair are very ugly. To look as normal as possible, they avoided various aids as much as possible. In relation to contractures, participants also found it important that aids were not too noticeable.

One participant said she did not want the contractures to be visible when taking pictures: “I am aware of them, for example when I take a picture: how do my hands look, are they in their contracture position or are they turned correctly so that they look normal. Are my feet straight?.” (P10)

Perceived impact of received interventions to prevent and treat contractures during childhood

Participants were positive about physiotherapy which they perceived as additional comfort.

Considerations in regard to contracture management

Most participants felt strongly that contracture treatment should provide a clear benefit. They did not feel the necessity to try everything to prevent contractures or limit worsening of contractures when these did not significantly impair their daily functioning.

Some participants felt that contracture management was not a matter of shared decision-making, but that it was rather decided for them in their childhood years without clear benefit for them. Most participants did not feel it necessary to preserve the range of motion of their joints when their strength prevented them from using the joint fully. None of the participants had the strength to stand independently and, therefore, most of them did not see the need to be able to straighten their legs. To prevent further contractures of the knees, some participants used a stander during their childhood. Most of them were very explicit about their dislike of this treatment and complained about the stander being painful and uncomfortable.

“I always thought, I can’t walk so why bother.” (P3)

“I didn’t see the need to stand. I sit all day, so why in god’s name would I want to stand in a stander?.” (P7)

Also, one participant indicated that the stander took away his ability to move independently: “I lose my freedom and control, that has always been important to me. To be able to decide where I want to go and when I want to go there. And not having to be moved by someone else.” (P7)

Splints were often used to try to maintain muscle length. Several participants strongly disliked their splints as they were painful, ugly or bothered them while sleeping. Most participants were not, therefore, compliant in wearing them. A reason for using the splints was the belief that they were helping, especially if the participant thought it was important to preserve the function of specific joints. One participant, for example, felt ankle-foot orthoses were unnecessary, but a splint for the wrist was worn every night.

Participants did feel physiotherapy had a positive impact in relation to contractures and noted it helped reduce the feeling of stiffness in their joints. Several participants stated that going to therapy as a child was not much of a burden given the perceived benefits and most continued to see a physiotherapist as an adult.

“Afterwards, it’s always pleasant to stretch it all.” (P12)

“When I was young, I always said that after being away for holidays for 3 weeks, without having physiotherapy, I noticed that I felt stiffer.” (P9)

Views about contracture management strongly depend on participants’ own understanding/knowledge about the development of contractures and previous experience. Most participants had noticed that contractures did not often develop in the joints they used regularly. Participants tended to associate aids that limit movement, such as a wheelchair tray, with a decline in function and an increase of contractures; hence they did not want to use it.

Prevention and future uncertainties

Most participants were not convinced that management could prevent contractures but were clear about their hope that their contractures would not worsen over time. Some participants found the sight of fellow individuals with SMA with severe hand contractures to be frightening. “I think I would be upset if the contractures worsened. Because my hands and arms, they are the only extremities I can still use. So I would hate it if the contractures would become as bad as in my knees.” (P9)

Disease-modifying treatment and future impact

Although participants were very clear about their negative feelings toward contracture management, they were also clear about the relevance of contracture management in light of DMT. Currently, in the Netherlands, various DMTs are available for children with SMA. Participants stressed the importance of contracture management in the case of motor function improvement with the use of DMT. “If children are able to stand with the help of DMT, I would definitely advise using contracture management. There is a different goal with contracture management now in comparison to myself, since I can’t stand.” And, “I think it is different now in children with DMT. In my case it did not matter, I wouldn’t use my legs anyway. But now I think it is more important to prevent contractures instead of trying to influence them while contractures progress.” (P3) And “Now that Nusinersen is more and more available, a stand-up chair may be useful for some people, if it helps to keep their legs more flexible, but yes, at the time it was not really something that had priority.” (P10)

Discussion

Our study shows that non-ambulant adolescents and young adults with SMA and existing joint contractures do not experience a major impact on the daily life of these contractures. Even though all participants are affected by contractures in multiple joints, they do not experience their contractures as a constant hindrance in their everyday functioning. This might be due to slow adaptation and acceptance over time and/or the decline in muscle strength which also impacts functioning. They did not experience pain and stiffness. Most participants specifically felt physiotherapy, in particular the passive stretching of their joints, had a positive influence. However, additional contracture management, such as orthoses, standers, casting, etc., were not considered a positive addition to their treatment plan. In various interviews, the desire to wear normal shoes was the most important subject regarding contracture management. Participants’ negative experiences regarding orthotic management of contractures were mainly because they felt, in their situation (without DMT), there was no clear goal: they would never be able to stand or walk.

Multidisciplinary rehabilitation interventions aim at optimizing independence, physical functioning, and psychosocial functioning [23]. Most participants indicated that they considered their situation to be acceptable, but that they would mind if their hand function deteriorated due to contractures. They also indicated that they found end-stage contractures difficult to look at. Apparently, AYA adapts gradually to the slow decline of hand function [4] and learns to accept accumulating disability. The impact of contractures is most apparent in specific situations, such as during surgical interventions or during intimacy. Increasing awareness of the impact of contractures among affected individuals and healthcare professionals is, therefore, important. SMA experts should increase awareness, amongst surgeons and anesthesiologists to whom affected individuals are referred, of contractures pre-surgery and to better accommodate them during procedures. Furthermore, we should at least try to make the problem of positioning for intimacy a part of the sexual health education of AYA with SMA and comparable neuromuscular disorders.

A major topic in the interviews was the potential benefits of contracture management in their individual situation. It is indeed not clear whether conservative treatments can prevent or delay contracture progression. Systematic reviews showed that there is low-level evidence to support the use of orthoses in Duchenne muscular dystrophy (DMD) [10–12] and two Cochrane Reviews showed that stretching in neurological disorders does not have a lasting impact on joint mobility when applied for less than 7 months [14–17]. In the absence of evidence, the prudent recommendations on contracture management [7], based on expert opinion and consensus and aimed at minimizing loss of function, should be balanced with affected individuals’ priorities. Many participants mentioned that contracture management should have a clear goal for them. Some AYA are not convinced that contracture management can significantly influence the course of the contracture and are, therefore, not motivated to use orthoses. Many participants highlight the difficulty of future uncertainties in relation to their contractures and are, therefore, undecided about whether or not to opt for burdensome or time-consuming preventive management. It should be noted that DMT may change the attitude of an affected individual, since the goals of management may differ if maintenance of standing or standing transfers were achievable. None of the participants at the time of the interview was receiving treatment with DMT. However, our study indicates that patient empowerment – in particular the feeling of making your own decision – may increase compliance with treatment regimens. In general, prevention of contractures, rather than trying to reduce an existing contracture, will probably improve compliance. This is in line with the consensus update on standards of care recommendation for SMA [7], which emphasizes the importance of introducing orthotics before contractures develop.

It is important to consider that with the introduction of DMT perspectives and goals regarding contracture management for AYA with SMA may have changed and may continue to change with advancement in assistive device technology. Livingstone et al. highlight the lack of publications regarding rehabilitation management in children with SMA. A recent scoping review and associated case report highlight the importance of comprehensive and proactive support and the case report illustrates the possibilities of assistive devices for the participation of a child with SMA type 1 [24]. Participants in our study stated that postural management would have been more acceptable for them if it had a clear goal, which may have resulted in improved level of functioning/or participation, as described in this case report. With the increased use of technology in assistive devices for functional activities, like sit-to-stand power wheelchairs [25,26] or arm assists, it is even more important to prevent contractures. Townsend et al. [27] recommended the use of (knee) ankle foot orthoses ((K)AFO) to ensure joints are aligned and to prevent valgus forces at the knees in supported standing. Fujak et al. [28] recommended earlier provision of AFO’s to children with non-ambulatory SMA while foot position is correctible, which aligns with the specific goal of being able to wear regular shoes into adulthood identified by participants in this study. It should be acknowledged that recommendations for contracture prevention using standing frames or standing wheelchairs may well address other shared goals. For example, the use of standers provides additional benefits like bladder and bowel function [29].

Given the availability of DMT, this study highlights the need for early intervention in relation to postural management to accommodate altered management goals. We stress the importance, in light of the findings of our study, to monitor and revisit treatment goals, benefits, and adverse effects on a regular basis as part of the shared goal-setting and decision-making.

This study is unique in presenting the patient’s perspective on the impact of contractures and contracture management in SMA. Future perspectives should focus on individualized contracture management, tailored to a person’s functional level. A limitation of our study is that we noticed, after coding the interviews, that sexual activities were a topic mentioned by three participants in a different context. Unfortunately, we did not specifically ask about sexual activities in the first interviews. Our results may, therefore, underestimate the importance of this topic for AYA with SMA.

Secondly, we only included non-ambulant participants with SMA types 2 and 3. Ambulatory-affected individuals with contractures may have different viewpoints. Additional interviews with this group would be of interest in light of DMT and future increase in motor milestones. Although we used purposive sampling to try to include a heterogeneous group with SMA types 2 and 3, purposive sampling of the level of functioning would have been of added value for the generalizability of the study.

This study emphasizes that shared goal-setting and decision-making regarding contracture treatment are of great importance. Of note, this study gives insight into the patient perspective regarding the impact of contractures and contracture management, performed in adolescents and young adults who started contracture management 10–20 years ago. The data from this study may be useful for making treatment decisions in a new generation of individuals with SMA. Specifically, DMT and the potential motor function improvement it affords highlights the need for early preventative contracture management using shared goal-setting in treated AYA with SMA.

Ethical approval

The Medical Ethics Committee of the University Medical Center classified this study as exempt from the Medical Research Involving Human Subjects Act (19-668). All participants gave informed consent.

Authors’ contributions

IOL contributed to the design of the study, carried out all data collection, analyzed and interpreted findings, and contributed to the manuscript. JWG contributed to the design of the study, interpreted findings, and contributed to the manuscript. LvdP interpreted findings and contributed to the manuscript. BB interpreted the findings and contributed to the manuscript. AB contributed to the design of the study, analyzed and interpreted findings and contributed to the manuscript. All authors read and approved the final manuscript.

Acknowledgments

The authors thank all participants who contributed their time and experience to this study; F. Asselman for her help in the procedural preparations and in the recruitment of participants; B. Bogers (BBo) for her help in coding the interviews.

Disclosure statement

No potential conflict of interest was reported by the author(s).

Data availability statement

The datasets used and/or analyzed during the current study are available from the corresponding author on reasonable request.

Additional information

Funding

Our work was financially supported by Stichting Spieren voor Spieren [SvS2019001]. The funder did not contribute to the design or interpretation of the study.

Appendix I

1. Introductory questions

– Question: What do you know about contractures in general?

– Question: What joints are affected in your case?

2. Questions about possible symptoms

– Question: do you have pain due to the contractures?

– Question: do you experience stiffness in joints where you have contractures?

3. Questions about current and previous contracture treatment

Explanation about contracture management: one can think of splints, casting, use of a stander, physiotherapy or stretching moments.

– Question: what kind of contracture management are you using and how satisfied are you with it?

– Question: what treatment have you used in the past and how do feel about that?

4. Questions about level of functioning/participation

Question: in what way do the contractures affect your daily functioning?

Depending on the participant, questions will be asked about the following themes:

Mobility: exercise/sports/activities using the hands: writing/typing/handling cutlery/drawing/painting

Social interaction, relationships and communication: making contact with other AYA/adults: friendships/relationships

Personal care: independence in daily personal care/household

Important areas of life: school/part-time job/work

Social: hobby/leisure/musical instrument etc.

5. Questions about worries/fear/self-image/self-confidence

Question: do you ever worry about the contractures? Do the contractures affect how you look at yourself or how you think about your appearance?

6. Impact on someone’s family

Question: have you talked about contractures at home, how do your parents feel about contractures and contracture management?