A qualitative study of the discrepancy between patient expectations and assessment practices in 5q-adult spinal muscular atrophy in France

Abstract

Background:

Despite advancements in spinal muscular atrophy (SMA) management, evaluating outcomes in adults remains difficult. Standard motor scales often show floor/ceiling effects and fail to capture patient-relevant constructs. This creates a disconnect between clinical measurements and the lived experience of adults with SMA, particularly in regulatory contexts requiring demonstrable benefit. This qualitative study explored the evaluation priorities, expectations, and preferences of adults with SMA and the corresponding assessment challenges faced by healthcare practitioners (HCPs).

Methods:

Semi-structured interviews with 18 adults with SMA (types 1b-3) and 31 multidisciplinary HCPs from 14 specialized French centers were conducted. Data were analyzed using reflexive thematic analysis and triangulation.

Results:

Adults with SMA found standard assessments burdensome, fatiguing, and lack relevance. Their primary goal was maintaining an acceptable life balance, a dynamic equilibrium between their disease state and an adapted environment. This balance hinged on preserving specific keystone abilities (e.g., joystick control, independent transfers), which are highly individualized and critical for social participation. Patients prioritized the assessment of these specific abilities. HCPs corroborated the limitations of standard tools (insensitivity, confounding factors) and logistical constraints. In response, HCPs have developed numerous “home-made,” non-validated assessments and used personalized tools to capture meaningful changes, especially in severely affected patients.

Discussion:

A discrepancy exists between current standardized SMA assessments and patients priorities. It highlights a need for outcome measures that align with patients’ priorities, particularly “keystone abilities.” HCPs’ innovative approaches offer a promising direction for future assessment development, advocating for a shift towards individualized, holistic evaluation in SMA care.

Introduction

Spinal muscular atrophy (SMA) is a progressive neuromuscular disease characterized by the degeneration of spinal cord motor neurons and caused by a mutation or deletion of the SMN1 gene. ¹ SMA presents with various phenotypes, depending on the age of onset and the severity of muscle weakness and atrophy. In the past decade, the advances of supportive care and the introduction of disease-modifying therapies, such as nusinersen, onasemnogene abeparvovec, and risdiplam, have significantly improved motor function and survival, especially in patients with infantile-onset SMA.^2–4

However, these therapeutic gains also expose gaps in outcome measurement approaches for adolescents and adults. ⁵ Traditional functional motor scales, such as the Hammersmith Functional Motor Scale Expanded (HFMSE), Revised Upper Limb Module (RULM), and Motor Function Measure-32 (MFM-32 or MFM), though commonly used, demonstrate ceiling and floor effects that limit their sensitivity across the full spectrum of disease severity.^6,7 In particular, their ability to detect meaningful clinical changes in adults with advanced disease is limited. Furthermore, constructs such as participation and role functioning are poorly assessed in these motor-centric tools.

Efforts to address these limitations have led to increased interest in patient-reported outcome measures (PROMs), including instruments like the Spinal Muscular Atrophy Independence Scale (SMAIS), the SMA Health Index (SMA-HI), Quality of Life for genetic Neuromuscular disorders (QoL-gNMD), or the Patient Reported Outcomes Measurement Information System (PROMIS).^8–11 These tools seek to capture more holistic dimensions of health such as fatigue, respiratory capacity, swallowing, and autonomy, which are critical to patients but underrepresented in standard clinical assessments. ¹¹ However, challenges remain around responsiveness, interpretability, real-world applicability, and alignment with patient-defined goals. ¹¹

The International Classification of Functioning, Disability and Health (ICF) framework provides a conceptual structure for understanding these discrepancies between physiological performance and lived experience. It distinguishes between impairments, activity limitations, and participation restrictions, and allows a structured analysis of inconsistencies between motor-function assessments and more participatory evaluations. Functioning is influenced not only by body structure and function but also by activities, participation, personal and environmental factors. ¹² Instruments such as the Goal Attainment Scale (GAS) ¹³ and Canadian Occupational Performance Measure (COPM) ¹⁴ build on this framework by identifying and tracking progress in domains personally meaningful to the patient, often revealing benefits overlooked by quantitative motor tests. Studies have shown, for example, improvements in COPM scores despite no changes in MFM-32 scores, ¹⁵ suggesting that standard outcome measures may fail to detect clinically important benefits.

The ICF framework also reveals some limitations. While it conceptually separates the ideas of ‘activity’ and ‘participation’, the classification system itself does not. The ICF qualifiers for participation are essentially measures of competence, or the ability to execute a task. It also lacks specificity to describe the relationships between its different domains. ¹⁶ The Family of Participation-Related Constructs (fPRC) framework, refines and expands the concept of participation in two essential and distinct components: attendance (simply the act of “being there”) and involvement (the experience of participation while attending that may include elements of engagement, motivation, persistence, social connection, and affect). ¹⁶ The ICF also inadequately addresses the varied lived experiences highlighted by Social Role Theory (SRT). Each role is a set of rights, duties, expectations, norms, and behaviors that a person has to face and fulfill ¹⁷ and has been shown to contribute to functioning and health. ¹⁸ To our knowledge no research has studied these aspects of participation for adults with SMA.

In France, following regulatory approval of therapies for adults with SMA in 2018, assessment protocols and reimbursement eligibility have increasingly depended on measurable clinical benefit.^19,20 This has amplified the demand for robust, individualized evaluation tools. Given the scarcity of data concerning adults with SMA, numerous questions have emerged regarding the appropriate indications for treatment and subsequent follow-up within this demographic. The resulting strain on expert centers and the complexity of therapy-related planning has led to the implementation of multidisciplinary team meetings ²¹ aimed at harmonizing practices and supporting equitable decision-making.

However, significant gaps remain regarding how adolescents and adults with SMA perceive treatment evaluation, their health priorities, and how well current clinical tools align with these expectations. This is particularly the case for SMA adults with the most severe forms of the disease for whom no outcome measures are able to capture changes. ⁵ It raises crucial questions about meaningful aspects of health and the ecological validity of outcome assessments. The International Society for Pharmacoeconomics and Outcomes Research (ISPOR) have developed a set of core principles for selecting and developing measurements in research and clinical care that are meaningful for patients, starting with defining meaningful aspects of health – defined as aspects of functioning that a patient: a) does not want to become worse, b) want to improve, or c) wants to prevent. ²²

In order to identify measurements that reflect more accurately the lived experience of SMA adults, the aim of this study is to explore:

The expectations, priorities, and preferences of adults with SMA in relation to their experience of existing treatment evaluation (including aspects of content – what are the meaningful aspects of health to assess? – and logistical considerations – what could be an acceptable effort from their perspective?).

The challenges faced by Healthcare practitioners (HCPs) in their attempt to tailor assessments to individual patient goals within variable resource conditions.

Given the limited prior research and the need to contextualize clinical practices in real-world settings, a qualitative methodological approach was chosen as most suitable to explore these under-investigated dimensions from both adults with SMA and provider's perspectives. ²³

Methods

We employed a triangulation approach, utilizing qualitative data obtained from semi-structured interviews with both adults with SMA and HCPs, to develop a model of SMA adults’ priorities, expectations and preferences toward treatment evaluation.

Study design

A multidisciplinary scientific committee of SMA specialists and a sociologist designed a two-part qualitative study (Figure 1).

Figure 1.

Study design process. Legend: The 8 HCPs participating in developing the parameters of the qualitative study were all used to caring for SMA adults. They comprised two neurologists, a pulmonologist, a physiotherapist, an occupational therapist and a nurse, members of the scientific committee and a Physical and Rehabilitation Medicine (PRM) specialist and a psychologist from a reference center for rare neuromuscular diseases.

The study design was a collaborative and iterative process led by the principal sociologist in partnership with a multidisciplinary scientific committee. This committee comprised eighteen HCPs with deep expertise in SMA from eight different specialized centers.

After a definition of the research objectives, the process continued with a series of foundational workshops with a smaller group of eight HCPs including two neurologists, a pulmonologist, a physiotherapist, an occupational therapist, a nurse, a Physical and Rehabilitation Medicine (PRM) specialist, and a psychologist. These serve to ground the sociological inquiry in the clinical and social realities of adults living with SMA. The HCPs drew upon their extensive clinical practice and direct patient interactions to serve as the primary determinants for identifying key research domains and relevant inclusion criteria. These workshops functioned (1) on the one hand to educate the sociologist on the nuances of SMA, its care pathways, and the organization of specialized centers and (2) on the other hand to identify critical gaps in knowledge from both patient and HCPs perspectives.

Several research domains emerged and directly informed the development of thematic interview guides for both SMA adults and HCPs (Table 1).

Table 1.

Research domains and derived themes for the interview guides.

Perspective	Research domain	Themes of the interview guides
Adults with SMA	The lived experience of SMA in daily life	– SMA adults’ personal history with SMA and its care – SMA adults’ experience of SMA in everyday life, the evolution of its symptoms and impact – Changes in SMA adults'’ experience with the treatment
	The priorities and goals regarding assessment (meaningful aspect of health).	– SMA adults’ experience of the assessment by the HCPs – SMA adults’ priorities in terms of SMA assessment – Requests and goals of care expressed to the HCPs
	The significant social and economic contexts	– The influence of the SMA adults’ social and economic context on the disease impact – The influence of the care offer available to SMA adults on their assessment needs
HCPs	The difficulties in assessing the multifaceted impact of SMA	– The objectives pursued by HCPs when evaluating SMA – The constructs assessed when HCPs carry out SMA assessments
	The increasing strain on resources within specialized centers.	– The center's organizational context and resources influence on assessments – The means and modalities of SMA assessment
	The organizational challenges with the treatments	– New assessment challenges with treatments – Changes in healthcare professionals’ practices

The scientific committee ultimately reviewed the research domains and inclusion criteria before defining the inclusion process.

Sampling

To represent the diversity of adults with SMA and types of care, a purposive sampling was directed towards achieving maximum variation in both patients and HCPs characteristics. ²⁴ Twenty-one criteria were identified to describe the diversity of adults with SMA and five were selected as main inclusion criteria. For HCPs, eight inclusion criteria were identified (supplementary material table 5).

Data saturation was determined by the sociologist (GM) when no additional themes emerged during data analysis. It was discussed with the scientific committee during the research as recruitment, data collection and data analysis were performed simultaneously and iteratively.

Recruitment

Adults with SMA were recruited through a call for participation disseminated in specialized centers, specifically targeting those who met the study's inclusion criteria. Volunteers then contacted the sociologist responsible for the interviews directly. In addition, some of the persons with SMA encountered offered to relay this call to other SMA adults in their network.

During an initial qualification interview conducted by telephone, the sociologist collected the person with SMA characteristics required for inclusion in the study. If the person met the defined criteria, they were invited to take part in an in-depth interview.

HCPs were recruited by being formally invited to participate in the study by the scientific committee. The initial plan was to recruit HCPs from eight centers. Due to difficulties in recruiting certain profiles, recruitment was extended to fourteen centers during the study.

No prior connection existed between the interviewer and the participants whether they were persons with SMA or HCPs.

Data collection and processing

The interview guides for both adults with SMA and HCPs were derived from the above domains and themes (appendix 2).

Interviews followed a semi-structured format, allowing the emergence of new themes and conducted by an experienced sociologist (GM). Patients’ interviews took place at their home and lasted between 90 and 150 min. The interviews with HCPs were conducted during their work time using secured videoconference. They lasted between 45 and 100 min. All the interviews were conducted between 2022.07.28 and 2023.02.20, audio-recorded and transcribed.

After the interview, only transcripts were kept, anonymized, and stored on a server certified for health data storage. They were imported into the qualitative software analysis Nvivo (version 14.23) for data analysis.

Data analysis

We employed reflexive thematic analysis, ²⁵ supplemented by inductive coding of emergent themes. The process followed six iterative stages.

After a phase of familiarization with a corpus of the first fourteen SMA adults interviews and eighteen HCPs interviews (stage 1), the sociologist analyzed the transcriptions to identify the emerging themes, develop a coding list and identify connections between codes to organize the data hierarchically into concepts and categories using Nvivo (stage 2). This coding map was reviewed and updated by the scientific committee (stage 3). Then, the sociologist (MG) coded the other four patient interviews and thirteen HCPs interviews from the updated coding map, which was gradually deepened and improved (stage 4). A re-reading of the entire corpus of interviews was performed to verify and specify the coding map (stage 5) before a second review by the scientific committee (stage 6). The final coding map is detailed in appendix 6.

Triangulation was achieved through analysis of both patient and HCP datasets. Analytical memos and audit trails were maintained for transparency. Results and interpretation were progressively and iteratively reviewed by the scientific committee.

Finally, the results and their interpretation were shared and validated by the participants of the study during two online presentations. At the end of these online presentations, SMA adults and HCPs indicated that they recognize themselves in the results.

Researcher reflexivity statement

The research team critically examined their positionality throughout the study, adhering to best practices in qualitative research and the SRQR checklist. The lead qualitative analyst, a sociologist with expertise in narrative methods and clinical research, was responsible for data collection and initial analysis. His independent role, separate from adults with SMA and HCPs environments, enhanced interpretive neutrality. The scientific committee, comprising clinicians from multiple disciplines with practical SMA care insights, provided domain-specific knowledge, influencing the design and thematic interpretation. This collaborative approach ensured a balance between in-depth understanding and analytical rigor. The team regularly discussed their diverse epistemological orientations and potential biases, applying reflexive thematic analysis principles.

Results

Saturation was reached after interviewing 18 adults with SMA and 31 HCPs recruited from 14 specialized centers. The complete sample is described on Table 2.

Table 2.

Adults with SMA and HCPs characteristics.

Adults with SMA characteristics		N = 18
SEX	female	7 (38.9%)
	male	11 (61.1%)
AGE	minimum	19 y.
	maximum	63 y.
	median	40 y.
	Mean (standard deviation)	44 y. (±13)
SMA TYPE	type 1b	3 (16.7%)
	type 2	5 (27.8%)
	type 3	10 (55.5%)
LOWER LIMB MOTOR FUNCTION	non ambulant (electric wheelchair)	12 (66.7%)
	non ambulant (manual wheelchair)	2 (11.1%)
	ambulant	3 (16.7%)
UPPER LIMB MOTOR FUNCTION	severely impaired	7 (38.9%)
	impaired	6 (33.3%)
	normal	5 (27.8%)
RESPIRATORY FUNCTION	no ventilation	11 (61.1%)
	non invasive ventilation	4 (22.2%)
	invasive ventilation	3 (16.7%)
TREATMENT	Ongoing	11 (61.1%)
	Pending	4 (22.2%)
	Discontinued	2 (11.1%)
	Not proposed	1 (5.6%)
TREATMENT DURATION (base: 13 persons with an ongoing or discontinued treatment experience)	minimum	0.1 y.
	maximum	4.1 y.
	median	2.0 y.
	Mean (standard deviation)	1.9 y. (±1.4)
HCPs’ characteristics		N = 31
HEALTHCARE PROFESSIONOR SPECIALTY	Neurologists	7 (22.6%)
	Neuro-pediatricians	1 (3.2%)
	Pulmonologists	4 (12.9%)
	Physical and Rehabilitation Medicine Specialists	3 (9.7%)
	Occupational Therapists	5 (16.1%)
	Physiotherapists	5 (16.1%)
	Psycho-motor Therapists	1 (3.2%)
	Psychologists	1 (3.2%)
	Nurses	1 (3.2%)
	Adapted Physical Activity Specialists	1 (3.2%)
	Social Workers	2 (6.4%)
SEX	female	24 (77.4%)
	male	7 (22.6%)
EXPERIENCE WITH SMAADULT PATIENTS	1 to 5 years	7 (22.6%)
	5 to 10 years	8 (25.8%)
	10 + years	14 (45.16%)
	missing data	2 (6.4%)
TYPE OF SPECIALIZEDCENTER	coordinating center	7 (22.6%)
	constituent center	21 (67.7%)
	center of competence	3 (9.7%)
RESOURCES AVAILABLE FOR CARRYING OUT ASSESSMENTS	full evaluation by a dedicated team	9 (29%)
	partial or delocalized evaluation	22 (71%)

Adults with SMA expect evaluations that accurately reflect their situation

See Figure 2

Figure 2.

Model of adults with SMA expectations, priorities, and preferences in relation to treatment evaluation.

Adults with SMA find that existing assessments lack relevance

Adults with SMA consistently reported concerns regarding the relevance and precision of current functional motor scales and timed tests. A notable discrepancy was noted between the standardized assessments performed in clinical settings and their real-world functional performance. This issue was particularly pronounced in individuals with type 1b and type 2 SMA, who frequently exhibited floor effects with standardized measures.

[This person has severe disabilities resulting from his disease, he is confined to an electric chair and is only able to move one finger] “Look, these evaluations are… how can I put it? They're impossible for me to pass, even at the most basic level. It' s not going to show any results. Telling me to grab 20 coins is completely absurd. I'll never manage to do that. Or telling me to hold out my arm to grab a pencil, and then use it to draw loops…  I can't. It's just not possible. ” (Patient 12, type 1b, ongoing treatment)

“He [his physician, a SMA specialist] had told me that they didn't have precise enough tools, because he gave me a bulb, a bulb you know like for a GP to take blood pressure, he told me: press on it. I didn't move the thing, not enough force.” (Patient 8, type 2, pending treatment)

Furthermore, these tests often fail to adequately account for inter-arm strength and functional differences, which some people with SMA strategically leverage for dexterity and range of motion.

“And in fact I find that the assessments are not necessarily always adapted because there are things that I'll be able to do with my right arm since I'm right-handed, but that I won't be able to do with my left arm, and vice versa. There are other things I can do more easily with my left arm, which has more amplitude today, even if I have better dexterity on the right. I have more amplitude in my left arm, so all that isn't taken into account in the system”. (Patient 7, type 2, ongoing treatment)

Additionally, adults with SMA indicated that assessment outcomes are susceptible to various external factors, including temperature, fatigue, fluctuations in weight, clothing, and occasional immobilization. For instance, cold temperatures and heavy clothing during winter months typically altered their abilities and also compromised the results.

“For instance, I just lost the ability to lift my mug right when it started getting a bit colder…  the fact that you're wearing more clothes, that you feel colder, you just know you lose some strength then .” (Patient 11, type 2, treatment discontinued)

The frequency and timing of evaluations were also questioned, with six-month intervals being perceived as insufficient to capture observed changes effectively.

“The problem is, we had our last appointment in early September, and the weather was still warm. The next one is scheduled for, I think, March. If it's ten degrees colder then, my scores will undoubtedly be much worse. Will I be positioned in the exact same way for the test? I don't know. I tried to memorize the table they had me at and all that, but… you see the issue. I told him, ‘This is a bit absurd.’ If you really want a reliable test, you should do it every month. Doing it every six months is pointless.” (Patient 8, type 2, pending treatment)

“For me, the interpretation of the results makes me wonder. I mean, it's not done every time under the same conditions. Apart from my state of shape, where there's nothing we can do about it, my thinking is that it' s not done at the right time . […] From what I've heard talking to other people on this treatment, the general feeling is that even for those who see a benefit, it tends to fade over time. About three months after the injection, the effect of the treatment starts to wear off.” (patient 16, type 3, ongoing treatment)

HCPs corroborated these limitations, acknowledging the lack of sensitivity and precision, as well as the presence of ceiling and floor effects. They also noted the difficulty in controlling for confounding factors.

“For type 2, they [assessments] don't work because there is a floor or ceiling effect. Well, above all, the floor effect. So you have to find other, more sensitive evaluations. Because when you've only got fingers and hands that move, it's hard to find a measure” (PRM specialist 3).

“– So, I have this type 3 patient. He was walking, then he lost some weight, did his physical therapy, and [his assessments] got better.

– What's the reason for that?

– Well, the weight loss, for one. We all know losing weight improves motor function. Less weight on the legs means you can move more quickly. He gained 4 meters. […] You have various factors: weight, physical training, therapy… It' s better if you work out, better if you weigh less, and obviously not good if you're in pain . You have to take a lot of things into account”. (Neurologist 6)

Adults with SMA experience a burden of assessment

Adults with Spinal Muscular Atrophy reported that assessments are demanding, particularly for individuals with severe forms of the disease. A single assessment could consume an entire day, leading to significant fatigue. Prolonged transportation to specialized centers via ambulance, the lack of resting opportunities throughout the day, and the physical exertion required for functional motor, strength, and timed tests contribute to this fatigue. The burden is exacerbated in centers where multidisciplinary consultations are not organized, often necessitating patients to visit multiple locations for different specialists (e.g., motor function and pulmonary assessment).

“It takes me a minimum of two-and-a-half hours to get there [to the hospital] […] So I do the MFM after two-and-a-half hours of road on the first day when I arrive at the hospital. […] I just wish it could be done at a different time, not on the same day I arrive when I'm already exhausted from the trip.” (Patient 16, type 3, ongoing treatment)

“So, you see, this Monday, I'm at the hospital for an all-day evaluation. They'll do a blood test, an ECG, and then I have three hours with a physical therapist who's going to put me through a whole bunch of tests.” (Patient 14, type 3, ongoing treatment)

This often resulted in frustration, as the substantial effort invested in assessments frequently failed to accurately reflect their lived experience.

HCPs involved in assessments acknowledged this burden and adapted their practices accordingly (e.g., maintaining a consistent assessment order, accounting for patient fatigue).

“ For some patients, it's just too much for one day . They'd rather come in twice than have one single day where we schedule everything back-to-back. By the end, they're exhausted and just fed up. Initially, we thought that it's better to group everything into one day if they live far away, so they won't have to travel as often. But it' s the patients themselves who tell us, ‘I can't take any more, I've already had an hour of assessment.’ It just shows that sometimes you think you're doing what's best, and then you find out otherwise…” (Neurologists 6)

Adults with SMA priority: maintaining an acceptable life balance

Patients frequently identified the stabilization of their condition as a desirable outcome, which they aimed to achieve through treatment. When their current condition allows for satisfactory social participation, the objective becomes its maintenance.

“I know this might be hard to believe, but my condition as it is right now isn't a problem for me. What bothers me is how it' s going to progress . That's the real problem. […] Even just stopping the progression of the disease would be huge. I'm not delusional about regaining strength, but just stopping the progression would be amazing because… it completely changes your ability to make long-term plans. Right now, I just try to live my life as much as possible and do everything I can. But when I think about planning a trip for a year from now, for example, I ask myself: ‘Will I have the exact same strength I have now? Will it be more difficult? What specific things will be harder?’ It's difficult to picture the future; it's super hard.” (Patient 8, type 2, pending treatment)

“What's gone is gone. I don't have any hope for a major recovery. That's just how it is. But now, if I can just stabilize and stay as I am right now, I'm okay with that. I'm not unhappy.” (Patient 7, type 2, ongoing treatment)

“I'm not saying that the treatment is a miracle, but if it leaves me in the state I'm in now, I'll be fine […] because I'm still able to do laundry, I'm still able to iron a little if I need to, and I'm still able to do a lot of things, so if it stopped there, it wouldn't be bad” (Patient 10, type 3, ongoing treatment).

HCPs also corroborated this observation.

“The expectations of adults are not the same [as those of children], the first request they have is to stabilize […] they don't necessarily have huge ambitions […] what they want, them, is to be comfortable in their daily life […] to have good social participation.” (Occupational therapist 4).

Patients reported that satisfactory social participation is contingent upon a delicate balance between two core components: 1) achieving a stable disease state and 2) achieving a stable, adapted environment.

This equilibrium contributes to what can be termed an acceptable life balance, representing the acceptable effort and cost required to attain satisfactory social participation.

First, adults with SMA generally perceived the attainment of a stable disease as largely beyond their control. Treatment is seen as an additional avenue to achieve this objective. Most endeavored to maintain or preserve their motor skills for as long as possible through training, physiotherapy and fatigue management strategies. This resulted in an important logistic and mental load. However, this is also contingent upon the availability of care services in their residential area.

“I'm used to living with it. It's a matter of daily management if you want to have a ‘successful’ personal and professional life. It's about organizing around the challenges of the physical disability, but if you adapt, you can manage the situation effectively. For me, the main daily struggle is fatigue, specifically, the constant mental fatigue. You have to think ahead: before, during, and after any activity. You're constantly managing your day, your week, and your vacations. It becomes a whole system of habits to find the best solution. […] Since I'm in a wheelchair, I use my arms much more, so now it's arm fatigue I have to watch out for. I can't let them get too tired because I need them for transfers to the toilet, into another chair. My arms can't give out on me, and they can't be too exhausted if I want to perform everyday tasks. […] My arms need to be in good shape. But that' s something I've learned to manage well. […] As for my routine, I have a physical therapy session for an hour, twice a week. On the other days, when I work in the mornings, I do an hour of exercises at home in the afternoon. Then, on my full days off […] I do even more exercises, with sessions in both the morning and the afternoon, still at home.” (Patient 2, type 3, ongoing treatment)

Secondly, achieving a stable, adapted environment typically presented significant challenges, particularly for individuals experiencing loss of ambulation. For them, creating an adapted environment was cumbersome, necessitating the organization and coordination of three resource types: human, technical, and financial. Human aids played a pivotal role due to their capacity for real-time, automatic adaptation to the disease and its erratic progression. Furthermore, the capacity to modify furniture, technical aids, or implement home improvements contributed to maintaining an adapted living environment. Nevertheless, access to financial assistance and professional caregivers is difficult, as navigating welfare administration was perceived as burdensome. Patients reported difficulties in securing recognition of their rights. This involved learning to interact with welfare institutions, including mastering legal terminology, administrative procedures, anticipating inspections of aid utilization, and coping with unexpected aid withdrawals.

“To speak the language of the bureaucracy means communicating our precise needs, especially regarding hours, in accounting terms… Because that's all they understand anyway…  You always have to be on alert whenever they call. […] Generally, when they cut hours, they do so drastically. When they make cuts, it's 10 h a week, 30 h a week…   they take a hatchet to it. […] We take action, send registered letters, and so on. Then, you appear before a commission. You meticulously prepare a file and defend it. You cannot afford to make a mistake. There' s no room for error . Now, to say it's a permanent tension […] And every five years, you have to go through it again. […] You have to explain it to them…  Because they can reduce payments just like that! So, you'd better have some financial reserves to occasionally absorb their incompetence. […] Administration is an enemy.” (Patient 14, type 1, pending treatment)

Moreover, a suitable environment can be disturbed by a wide array of events. For instance, a transportation strike preventing a home care assistant from arriving could result in a person with SMA being confined to bed. Similarly, friends relocating or having children may lead to decreased availability for in-home assistance, and wheelchair technical failures can also cause disruptions.

“ I wanted a home-care assistant who didn't live far from me so that transport strikes wouldn't be an issue . Before, I didn't work that way, and then I'd be all alone with no one able to help me. I'd be completely stuck. So, this way, even if there's a problem with transport, the person can still come.” (Patient 4, type 3, ongoing treatment)

HCPs also corroborated this observation.

“– So, is it complicated to get funding for that kind of equipment?

– It takes a long time. That's the main issue we face, unfortunately, the process is long for every type of assistance. Now, the advantage we have at the hospital is that we have a central point of contact and can request emergency aid, so that part is manageable. But it' s true that for anything related to equipment or home modifications, for instance, the wait is quite long .” (Social assistant 2)

Consequently, environmental modifications were often arduous and time-consuming to implement, which posed challenges for individuals experiencing a rapid deterioration of their condition.

Adults with SMA expect assessment of their “keystone abilities”

Given that environmental modifications cannot be implemented at the same pace as the disease progresses, maintaining an acceptable life balance hinged on a select set of capabilities, hereinafter termed keystone abilities. These keystone abilities are essential for maintaining function. Much like the keystone in architecture, their loss would lead to the collapse of an acceptable life balance.

Therefore, adults with SMA often identified certain abilities as crucial for maintaining an acceptable life balance especially when they anticipated the consequences of losing them. This is the case of a man who felt more and more difficulty raising his hands, affecting his ability to eat and to reach objects around him. He anticipated that losing this ability would necessitate increased human assistance for his daily tasks and a complete overhaul of his daily organization.

“Afterward, when it comes to eating… well, if you like, I put my head down instead of raising my hand, and I eat more and more messily, dirty, meaning I eat with my fingers. […] It bothers me because I don't know how far it will go. Because the day I need someone to put food in my mouth, that means I'll have to go to work with a caregiver! […] I'd like to live lightly. Live a little more simply.” (Patient 3, type 3, ongoing treatment)

This was also the case of a woman with type 2 SMA who lost the ability to reposition herself in her chair and to lift her hand, consequently requiring increased human assistance for more and more of her daily activities. Or, the case of a young man with type 1b SMA who lost the ability to speak clearly and loudly. This deterioration impaired his ability to be heard and understood, consequently altering his involvement in social activities.

HCPs corroborated that not all patients’ abilities are equal, that some are more critical than others and therefore more worthy to be evaluated.

“So, this is a very dynamic 27-year-old woman. She works, she goes out at night with her friends, and so on. She drives her car, but then she needs two crutches to walk into her house. She uses a manual wheelchair to get around at work. She had started to deteriorate little by little, and her main concern was this: it' s 9 meters from her car door to her front door at her parents’ house, where she lives. What bothered her was that, as she lost the ability to cover those few meters, she wasn't losing the ability to walk completely, but she could no longer manage 9 meters, she couldn't go out at night to restaurants with her friends anymore. And when she got home, someone always had to be awake to help her get out of the car, you see? That was the issue. For her, the goal was to get those 9 meters back so she could maintain her independence and get inside on her own, even if her parents were already asleep. And the truth is, with the treatment, she can now get from the car to her house without any trouble when she goes out at night. […] For her, this is huge for her daily life, and maybe for her future personal life as well. We don't know how long the effect will last, but I believe this young woman would have completely lost her ability to walk within the year. So, for her, the outcome measures we had decided on in our multidisciplinary team meeting…  well, some were just real-life measures. Her father would literally measure the distance from the car to the house and just report whether she could do it or not. […] And then, at the hospital, I would do my standard scales , the MFM, and a 10-meter walk test. But the fact is, that 10-meter test, which is a standard test that seems easy enough with two crutches, she could never actually complete it. Not until this last consultation, anyway.” (Neurologist 2)

Thus, keystone abilities can encompass a diverse range of aptitudes from ambulation to articulate speech. As SMA progresses, the remaining aptitudes of an individual become increasingly critical for their adaptation within their environment. For adults with the most severe disabilities (and usually confined to an electric wheelchair), manual dexterity, electric wheelchair joystick control, chewing, swallowing or being able to sustain an articulate speech were often perceived as critical.

Table 3 provides examples of keystone abilities, identified through interviews and categorized by SMA type.

Table 3.

Examples of keystone abilities according to the SMA type.

SMA Type	Keystone abilities identified by adults with SMA to maintain their acceptable life balance	Anticipated consequences of their loss
Type 3walker	climbing a few steps at home (to go out / get in, get inside the shower, etc.) getting up from a chair walking a few steps at home (to change room) handling transfers from the wheelchair to another seat	Having to change home / having the home adapted (to a wheelchair) Having the workplace adapted Less social participation (involvement and attendance) Increased mental load
Type 3 non walker	reaching for and grasping objects above one's head supporting head independently lifting arms to eat or drink independently using hands to cut food, prepare meals, brush hair / teeth writing on a notebook	Needing increasing caregiver assistance (home, workplace) Less social participation (involvement and attendance) Increased mental load
Type 2	lifting arms to eat or drink independently playing the piano typing on the computer's keyboard (for work or for personal use) controlling the wheelchair's joystick using the computer's mouse (aim and click) sustaining breathing without ventilation	Needing increasing caregiver assistance (home, workplace, all aspects of life) Less social participation (involvement and attendance) Increased mental load
Type 1b	controlling the wheelchair's joystick using the computer's mouse (aim and click) sustaining breathing without ventilation maintaining a conversation	Needing increasing caregiver assistance (all aspects of life) Less social participation (involvement and attendance) Increased mental load

Persons with this severe condition reported expecting these keystone abilities to be assessed accurately. Some persons with SMA emphasized the importance of evaluating the abilities they are losing rather than focusing on measurable outcomes.

“I think you should concentrate on the gestures you're losing. If the aim is to evaluate over a year or two and not ten years, but gestures that we're losing, that we're struggling with […] to brush my teeth for instance, that's something that has changed. I need someone to hold my arm now” (Patient 8, type 2, pending treatment)

In a given technical and social environment, these keystone abilities are critical for sustaining daily activities and social participation, enabling individuals to continue their involvement and fulfill their roles within their family, workplace, and other social spheres.

Thus, the loss of these keystone abilities has severe consequences, compelling patients to implement significant changes to their environment and daily organization. This often entails an increased reliance on human assistance, the adoption of new technical aids, a re-evaluation of home adaptations, and a heavier organizational burden in everyday life. Consequently, a loss of spontaneity in daily activities and social participation is observed.

“– So if you were to lose the use of your left arm, what would that mean?

– Oh, definitely more help, and everything would take even longer. Because every single time I'd want to do something, I'd have to rest that muscle just to get it to respond again. It would mean more risks, more accidents, more difficulty lifting things… Yes, it would mean asking for more and more and more help with things I used to be able to do myself. […] And making checklists, and having less and less time for myself. Because ultimately, so much of my day is already consumed by just managing the basics.” (Patient 4, type 3, ongoing treatment)

Such environmental modifications can be challenging, lengthy, and cumbersome, particularly if they involve changing technical aids (e.g., an electric wheelchair) or increasing home-care assistance, as these necessitate filing forms with specialized administrations, leading to an additional administrative burden.

“You see […] an idea that frightens me: the day I started using home help, I was told: ‘To be quick, there are two ways: either you use an agency, which you pay, and it takes care of payslips, replacing absentees, etc., or you can be a direct employer.’ […] I can't be a direct employer. If I start making payslips, I'll stop working.” (Patient 3, type 3, ongoing treatment)

Furthermore, individuals may experience a less spontaneous life, requiring meticulous planning for all activities. For those dependent on a wheelchair and/or a caregiver for most daily activities, participating in social events demands extensive preparation and planning, resulting in an additional mental load.

HCPs are reinventing their evaluation practices of adults with SMA

See Figure 3

Figure 3.

Model of HCPs’ practices in evaluating adults with SMA.

HCPs are pressured to provide quantified evaluations of adults with SMA

The advent of innovative therapies and their subsequent reimbursement have introduced new objectives and constraints in the management of adults with SMA. Due to the French Transparency Commission's requirement for treatment decisions to be made in multidisciplinary team meetings, healthcare professionals needed systematic assessments to harmonize the treatment decision-making process.

“– Why is it so important to have that data?

– Because we're talking about very expensive treatments. There' s a mandatory national multidisciplinary team meeting that determines whether we can continue it. We need those evaluations to feel confident that it's truly effective, or at the very least, that the patient is stable and not deteriorating. […]

– But how can you tell if a patient is deteriorating or just stable?

– That's exactly the point. You must have the evaluations. If we don't have a baseline, we have no way of knowing.” (Neurologist 1)

Historically, systematic and quantitative evaluations in adults, with the exception of respiratory monitoring, have been limited. With the introduction of these therapies, HCPs frequently reported challenges in determining treatment initiation, maintaining or discontinuing treatment, and understanding disease progression under treatment in adults, particularly in contrast to the natural history of the disease.

“ We need windows for treatment . I think patients, more and more anyway, it's like this, or at least we suggested it to them a lot at the beginning, but we're coming back to it, in other words, on progressive relapses. Patients who are stable, who aren't getting worse, where nothing's happening, it's perhaps not worth treating them, but as soon as they start to get a little worse, that' s when you need to, um…   treat them, that's all. Once again, we're going to need fairly sensitive tools. ” (neurologist 7)

Furthermore, the substantial cost of these treatments and the imperative for healthcare expenditure control raised critical questions regarding patient selection for optimal benefit, criteria for treatment discontinuation, and patient adherence.

Due to the scarcity of clinical trial data in adult populations, HCPs have noted a deficit of information to guide medical decision-making. They reported that existing data do not adequately differentiate the drug's effect from routine management, inform appropriate assessment strategies, or enable stratification of expected outcomes and assessments based on disability level.

“There have been some studies on risdiplam that included patients up to age 22 or 23, but they involved very few patients. As for nusinersen, the studies were conducted in children, not in adults with disabilities. They've relied on a lot of natural history data and open-label, treated-cohort follow-up studies to suggest it's quite effective. However, the fact is, we have no placebo-controlled studies in the adult population.” (Neurologist 5)

Consequently, HCPs have expressed a need for the development of novel evaluation practices. However, current indicators for evaluating adults with SMA were considered unsatisfactory.

HCPs face several challenges in the assessment of adults with SMA

a) Logistical constraints guide the selection of evaluation methods.

The requirement to assess patients has led to an increased workload for specialized centers where systematic assessments were not previously a routine component of adult SMA care. As this new obligation was not matched with a corresponding increase in resources, centers were constrained to utilize existing staff within the existing hospital framework, where each interaction with a healthcare professional occurs within a consultation setting.

While some centers have successfully established multidisciplinary consultations, others are required to conduct evaluations using available personnel and resources. Consequently, approaches to these challenges vary, depending on the specific center and its available resources, leading to discrepancies in assessment practices across institutions.

“ We are all facing shortages of physiotherapists, occupational therapists, and so on. Uh… to give you an example, for adult spinal muscular atrophy, we have nearly thirty or forty patients on treatment, if I recall correctly […]. And for them, we have only 20% of a physiotherapist. […] Yes, 20% of one physiotherapist's time, dedicated to neuromuscular. So, you can immediately see that it' s just not possible. So, we have to be resourceful, what we call our system D for DIY. We ‘borrow’ a bit of time from our general neurology physiotherapist, and most importantly, we end up doing the evaluations ourselves, right in the consultation. We do this by combining a bit of muscle testing with the patient interview.” (neurologist 7)

Then, the evaluations conducted are selected and executed with due consideration for several constraining factors.

• the specific center, characterized by heterogeneous resources allocated to assessments, leading to the selection of indicators and evaluations based on the center's practical capabilities;

  “…we just don't have enough staff. These are the same physiotherapists who have to cover the stroke patients on the wards, and go to geriatrics to get elderly patients up and walking. They aren't dedicated to the daycare unit. We get maybe three occupational therapists slots a day in the daycare. We're already fighting over them for our ALS [amyotrophic lateral sclerosis] patients, our neuromuscular patients, and everyone else. It's a total nightmare trying to schedule everyone. We're working with restrictions. But who has enough physiotherapists? Or occupational therapists? Most of them would rather set up a private practice in town than come work for the hospital. So, we do with what we've got. […] You have some centers like [Reference Center X] that are really well-off, with an amazing department. But I'm sure I'm not the only one in France dealing with this. I know [Center Y] doesn't even have a doctor, physiotherapist, or occupational therapist. They send their patients to a rehab center down the road. And you see the patient files come in with no assessments, nothing. The resources are just spread so unevenly. […] Frankly, I'm just grateful that we've managed to negotiate any access to them, and that we get any evaluations at all.” (Neurologist 3)

• the individual patient, whose objectives and expressed needs differ, necessitating the discussion and selection of indicators with the patient that are predicated on meaningful activities of daily living;

  “This is a perfect example. These are the kinds of outcomes… you can't just invent them. They come directly from the patients. […] I have a patient who was telling me, she experiences severe fatigability in her hands. Before the treatment, she couldn't even finish her pot of mussels. She'd get through maybe 500 grams and her hands would be too tired, which really upset her because she loves mussels. But now, with the treatment, she can easily finish her full liter of mussels, you see? […] And I was at this national meeting, where we spend all this time agonizing over assessment items, and they all made fun of me when I brought up the ‘pot of mussels’ example. [Laughter] They joked, ‘We can't use that one, we'll have to use cassoulet as our metric!’ But it' s a perfect illustration of that fatigability . We have patients at all different levels, and for her, it was a completely relevant way to tell me that she had more endurance and could now finish her meal by herself.” (neurologist 7)

  “We need to be able to offer things that are truly tailored to the patient and their specific life. So, in some situations, we don't need to propose anything new. In other cases, however, the patients themselves have very specific goals, and those goals can, in turn, give us confidence when we begin a new treatment.” (neurologist 2)

• the severity of the disability, which presents challenges in assessment due to the limited availability of tailored instruments and may necessitate the development of ad hoc indicators;

  “The fact is, when a patient is very severely affected… basically, their entire functional life consists of being in an electric wheelchair and moving their hand on a joystick to go forward, back, and turn. On the RULM scale, their score will be a one or a two. And even if they become more fatigable while doing it, their score will still be a one or a two at the next assessment, because they can still technically perform the task. So, how do you measure any decline? That's why they developed the MyoTools. […] It's the same thing with the pinch test. For people who are at that stage of just ‘I move my finger on a joystick,’ their pinch strength sometimes doesn't even register above zero kilos. They can't apply enough pressure on the gauge…   So yes, we're missing a tool. But I'm not sure we'll ever find a scale that can measure change at that level. Or, at the very least, you'd have to wait for a much longer time, using assessment points at six-month or one-year intervals, where you often don't see much change anyway.” (neurologist 3)

  “And then, we can use simpler tests that are individualized, ad hoc tests, in a sense, where we try to measure what is actually useful for the patient. We have patients who, for instance, rely heavily on using a mouse or their wheelchair's joystick. So, for one patient, an engineer who does a lot of mouse-clicking, he was experiencing fatigability. His finger just wouldn't respond well. For him, we might decide to test, for example, the number of clicks he can perform in one minute. Or, how many repetitive hand movements he can complete in a minute. It' s all these little things that aren't standardized, but they are meaningful to the patient , and they are easy for us to reproduce at different time points.” (neurologist 4)

and (iv) participation in research projects, which mandates the utilization of standardized indicators.

b) HCPs strive to overcome standardized assessment limitations

HCPs expressed concerns regarding the absence of sufficiently sensitive and precise assessment tools to guide treatment decisions. The challenge of selecting appropriate assessments for each adult with SMA arose at every stage of treatment: initiation, maintenance, and discontinuation. Currently, HCPs reported relying solely on standardized assessments, including motor function scales (e.g., MFM, HFMSE, or RULM), strength measurements, and endurance or timed tests (e.g., 6MWT, 10MWT). Several limitations of standardized assessments were identified.

Firstly, these assessments often lack sensitivity and precision, necessitating multiple measurements over several months to reach definitive conclusions. This can result in delayed treatment initiation, potentially leading to missed opportunities for patients. Consequently, HCPs reported frustration regarding the inadequacy of current instruments and a pressing need for sensitive evaluations to identify treatment windows and monitor treatment response.

“– If I need three or four data points just to confirm that my condition is declining, that means I could have potentially changed the treatment back here [at an earlier point]. Am I really forced to wait until I've declined this far? I keep telling myself, ‘Maybe it will bounce back at the next point,’ so I'm forced to wait until the trend is clearly heading down before I can say, ‘Okay, this isn't working, we need to change the treatment.’

– So it puts you in a position of having to wait and see the outcome of the battle before you can act.

– Exactly. By then, a lot of damage has been done. The thought is, ‘We have to change things now,’ but it's too late; we needed to act sooner.” (Neurologist 5)

Additionally, these standard assessments often exhibit ceiling and floor effects, rendering them particularly unsuitable for patients with severe disabilities.

Furthermore, HCPs reported difficulty in isolating specific treatment effects, as standardized motor function scales are susceptible to various confounding factors, including patient weight, level of training and physical activity, pain (from immobilization), and weather conditions (temperature). Controlling these factors is challenging, particularly when assessments are conducted only every 4 to 6 months. This necessitates the collection of additional ecological information regarding context, such as weight, training level, patient fatigue, and test-taking conditions, all of which must be documented by clinical evaluators.

“Yes, sometimes they are more tired than usual and don't know how to explain why. They can't always attribute it to having done something extraordinary. As far as I'm concerned, it' s a part of life, and I take note of it … In fact, as soon as the temperature reaches 19 degrees Celsius, their hands get cold due to lack of mobility. The second problem with the cold is that they have to dress more warmly, which makes movement more difficult…  All the assessments I did yesterday were worse because they were wearing a sweater, compared to the summer…  So yes, my assessment does change, but the important thing is to be able to say: ‘Look, the assessment is a little worse than last time, but be aware that it's winter, and their fingers are colder.'” (occupational therapist 4)

Finally, interpretation of progress also raised difficulties, due to the decoupling of certain indicators, notably strength and function. In patients with a low level of disability, gains in strength were not necessarily accompanied by an improvement in function, which means that the effect felt by the patient is low. On the other hand, in severely handicapped patients, even modest gains in strength could be accompanied by significant gains in function, enabling them to regain lost gestures.

“The relationship between strength and function is more difficult to grasp and varies greatly depending on the patient. For example, about half of type 3 patients can walk. If we improve their strength, even in both their lower and upper limbs, it often doesn't change their functional abilities because they're not doing anything new. In contrast, a very severe type 2 patient, with even a small gain in arm movement, might be able to bring their hand to their mouth again, something they couldn't do before. The curve between strength and function is not linear.” (neurologist 7)

To address these limitations, HCPs augmented standardized assessments with ad hoc indicators, often developed collaboratively with patients, notably utilizing GAS or the COPM. HCPs reported that this approach enabled them to incorporate the preferences and objectives of adults with the most severe forms of SMA, for whom standardized assessments are frequently impractical. These ad hoc indicators were typically based on activities of daily living or gestures deemed significant by the patients themselves such as brushing teeth, brushing hair, eating favorite dishes. However, GAS and COPM require trained personnel to be set up and performed.

“ I begin with the COPM to identify the person's priority goals . From there, two scenarios are possible: either a clear priority objective exists and is measurable, or the situation is more complex and specific. In the latter case, I often collaborate with the patient to determine what they believe can be evaluated. We attempt to conduct the assessment during their initial visit, or sometimes I assign tasks for them to complete at home, such as counting how many times they had to reposition their hand on a joystick.” (Occupational Therapist 5)

By doing so, HCPs often created a set of evaluations tailored to the patient.

HCPs have developed home-made assessment to tackle the challenge of assessing adults with the most severe forms of SMA

Given the scarcity of validated assessment tools for patients with severe disabilities, HCPs were frequently required to devise novel evaluations.

The development of specific indicators for these patients often involved adapting existing neuromuscular scale items (e.g., by modifying starting positions or altering exercises) or creating novel timed tests to measure endurance or fatigability in simple tasks.

“To ensure reproducibility, I used materials from the MFM like the CD and the small grid. This is how I adapted it, ensuring I repeated the same exercises consistently. However, I'm not claiming it' s MFM, nor is it the starting position for MFM. I will use this approach because it allows me to observe, with the CD, the space in front of which it can intervene, whether it's the small CD or the large one. I won't bother lying him down, etc., as I know he won't move anything” (occupational therapist 4).

Some HCPs even adapted games or software to turn them into timed tests to assess endurance or fatigability.

“But in this case, we're talking about a test that is completely ‘home-made’ , we just invented it. There is absolutely nothing official about it. But it occurred to me that it was an excellent tool for conducting evaluations. Very often, the patients with the most severe disabilities are the ones who have the most difficulty going to the hospital. A lot of our SMA patients are in that exact situation […]. And making them come in every two weeks just for these assessments is far too exhausting for them. So, we conduct these assessments over video. And I realized Cookie Clicker was the perfect tool. […] I thought to myself, it' s ‘dead simple': all you do is click, and it gives you a total count at the end. This allows us to measure the maximum number of clicks they can achieve in 90 s, which in turn lets us measure various concepts like fatigability and endurance , simply by comparing the click data from one session to the next.” (occupational therapist 3)

Thirty-seven different in-house non validated assessments were collected during the interviews with HCPs (Table 4). Although these tests lack formal validation, HCPs strived to establish reproducible methodologies to enable robust temporal comparisons. Meanwhile, they expressed concerns regarding the psychometric properties of such internally developed, non-validated instruments.

Table 4.

Novel evaluations devised by HCPs.

Domain	Outcome Assessment	Description
Hand and fingers dexterity	1. Click accuracy (Aimbooster® score)	Assessment of fingers dexterity and click accuracy by an online game whose objective is to click on all the targets displayed on the screen in a given time.
	2. Wheelchair driving	Assessment of fatigability, dexterity and skill in handling the electric wheelchair by a test drive on a standard circuit with turns and obstacles.
	3. Mobile texting	Assessment of the duration of sending a standard SMS.
	4. Keyboard typing (Clavitest® score)	Assessment of speed, accuracy and fatigability when typing on a keyboard.
	5. Token grabbing	Assessment of hand dexterity by grabbing coins or tokens from a table and putting them in a container within a given time.
	6. Handwriting	Timed test of repeated writing of a standard sentence.
	7. Hand repositioning	Evaluation of the number of hand repositionings on the trackpad each day by the caregiver.
	8. Forearm fatigability	Evaluation of working time without replacement of the forearm or wrist.
	9. Click endurance (CookieClicker® score)	Assessment of click endurance by an online game whose objective is to click as often as possible on a large cookie in a limited time.
	10. Video game controller endurance test I	Assessment of endurance for pressing the same button on the patient's video game controller as many times as possible within 30 s
	11. Video game controller endurance test II	Assessment of endurance for repeating a button combination (e.g., circle, cross, square, triangle) as many times as possible in 30 s.
	12. Distal upper limbs video assessment	Qualitative assessment of distal functions of the upper limbs by asking patients or caregivers to make a video recording of activities involving forearms, hands and fingers.
Fingers strength	13. Push button pressing	Assessment of finger strength by pressing a push button with the fingers.
	14. Thumb-index pinch	Measurement of the strength of the intrinsic hand muscles using the Myopinch®.
Head support	15. Head support	Assessment of the autonomy of the head holding muscles by measurement of head support time, after removing the wheelchair headrest.
Respiratory aptitudes	16. Autonomy without ventilation	Timed assessment of the patient's breathing autonomy without a ventilator (which can be important for patients during tracheostomy tube care and for certain daily life actions)
	17. Quadstick® controller usage time	Timed assessment of respiratory endurance by measuring the time of use of the hand-free video game control box.
	18. CO2 level in inspired / expired air	Measurement of the CO2 level in the inspired/exhaled air by the home healthcare provider (using data from the patient's ventilation device).
	19. Respiratory rate	Assessment of the respiratory rate by the number of inspirations/expirations in 1 min from the mobilization of the accessory inspiratory muscles (performed remotely).
Speech and pronunciation	20. Aphonia / dysphonia I	Qualitative assessment of patients’ ability to vocalize clearly from self voice recordings.
	21. Aphonia / dysphonia II	Qualitative assessment of patients’ ability to vocalize clearly from enumeration (counting from 1 to until diction is altered)
	22. Aphonia / dysphonia III	Qualitative assessment of patients’ ability to count in one breath (apnea).
	23. Aphonia / dysphonia IV	Computer assisted assessment of aphonia or dysphonia using the EVA® station and software allowing a multidimensional voice analysis (pauses, intensity, amplitude/ pitch, vocal/nasal airflow, intraoral or subglottic pressure, joining of the vocal cords).
	24. Conversation sustaining	Assessment of the ability to hold a conversation without aspiration of saliva: count of the number of saliva suctions necessary during a conversation over a period of time.
	25. Speech rate	Assessment of speech rate by timed measure of a standard sentence allowing the number of words spoken per minute to be counted
Swallowing	26. Swallowing difficulties	Assessment of swallowing difficulties using the Sydney Swallow Questionnaire (SSQ).
	27. Drinking abilities	Self-assessment of the number of times in a day when the patient achieves to drink alone.
	28. Timed water test of swallowing	The timed water test of swallowing: Assessment of patients’ swallowing abilities using the timed water test of swallowing (TWTS)
Meal length or structure	29. Meal eating pattern	Qualitative assessment of meal eating pattern. Ask patients or caregivers how meals are eaten, all at once or splitted up into several parts (and if so, how many).
	30. Meal-time I	Self-assessment of meal time. Ask the patient or caregiver to self-measure meal times. Encourage patients to repeat this measure.
	31. Meal-time II	Self-measured meal time to finish a typical dish. Ask the patient or their caregiver to measure the time spent eating a typical meal, eaten regularly, in a typical portion.
	32. Eating speed	Self-assessment of eating speed. Ask the patient or his caregiver to evaluate the quantity of food ingested over all the stages of eating (gripping, introduction, chewing, swallowing) for a given time.
Fatigue	33. Daily naps/breaks numbers	Self-assessment of number of naps/breaks needed during the day (in a diary, for example)
Social participation time	34. Endurance	Assessment of endurance in activities of daily living: Ask the patient or their caregiver to time the time spent on an activity important to the patient to monitor progress
	35. Number of helps needed within a day	Evaluation of the number of requests for human help during the day: During the consultation, ask the patient the times of the day when he called on human help and for what activities
Other	36. Evaluation of a meaningful ability	Identification and evaluation of the evolution of the performance of a daily life meaningful gesture for the patient (e.g., brushing their teeth, combing their hair, petting their cat, etc.)
	37. Time to perform a daily activity	Timed measurement of the time needed to complete a simple daily task (e.g., getting dressed)

Discussion

Our study identifies the treatment evaluation preferences and priorities of adults with SMA. Standardized 6-month assessments conducted in specialized centers are perceived as burdensome and largely irrelevant by this population. Instead, they expressed a desire to achieve or maintain an acceptable life balance at a specific time and within a particular environment, which hinges on a few keystone abilities essential for social participation and quality of life. Adults with SMA emphasized that these keystone abilities are meaningful to assess and crucial for preservation or improvement.

Conversely, our study reveals that HCPs encounter challenges in providing quantified assessments for adults with SMA for treatment decision-making. These challenges stemmed from limited workforce and a lack of relevant instruments, particularly for patients with the most severe forms of the disease. Due to issues such as lack of sensitivity and prevision, ceiling and floor effects, and confounding factors that interfere with standardized measurements, HCPs could only observe disease progression, stabilization, or functional improvement over extended periods. This highlights a clear discrepancy between the expectations of adults with SMA and current assessment practices.

Our findings substantiate and expand on known limitations of standard motor function assessments^6,7,26,27 (such as the HFMSE, RULM, and MFM) by demonstrating that current tools insufficiently capture patient functioning in its entirety, particularly from the patient perspective.

Drawing on the ICF framework and its critics, our results indicate a gap between biological function-based measurements and broader, context-dependent experiences of daily functioning and quality of life. Specifically, contextual factors, both environmental and personal, emerged as crucial moderators of patients’ capacity to perform daily activities, aligning with the ICF's core domains of Activity and Participation. This builds on and complements prior qualitative research on adults with SMA,^28,29 reinforcing that activity and participation are inseparable from contextual influence.

Previous literature has attempted to better integrate subjective experience into a more detailed explanatory model of how contextual, environmental, personal, and social factors influence individuals’ performance. The concept of capabilities, defined as possible functioning within the lived environment, bridges the gap between capacities in a standardized environment (such as those used for neuromuscular assessment in clinical centers) and performance as the achieved functioning in the lived environment (encompassing its physical, institutional, technological, social, and symbolic aspects). ³⁰ In line with this, our interviews underscore how environmental changes (e.g., caregiver departure, alterations in social networks) can disproportionately modify patients’ capabilities and performance, even at a constant level of physiological impairment.

Within a fixed setting of environmental factors, personal factors, and social influences, these keystone abilities facilitate social participation, encompassing both attendance and involvement, thus functioning. Therefore, not all capacities or capabilities are equal and some are identified as more strategic for adults with SMA and then, more worthy to be precisely assessed and monitored to appraise the treatment effect.

Also, the concept of acceptable life balance indicates that achieving satisfactory participation incurs a cost for adults with SMA. The worsening of SMA or living in a less and less adapted environment increases this cost. Maintaining acceptable social participation necessitates effort to ensure environmental adaptation and preserve physical abilities, consuming time, financial resources, and energy, ultimately leading to increased mental load and fatigue. However, this cost is not described in the main models of functioning such as ICF or fPRC. Our study underlies that acceptable life balance is in fact a dynamic equilibrium among physical ability, and environmental fit at an acceptable cost and emerges as a new axis for meaningful functioning.

Also, the concepts of acceptable life balance and keystone abilities possess practical implications and could emerge as novel outcome measures.

Although keystone abilities are rarely measured in practice, HCPs frequently resort to supplementing standardized assessments with ad hoc and personalized indicators, which are often developed in collaboration with patients. This trend may elucidate the growing interest in personalized outcome measures using GAS or COPM.^31,32 This may also explain the development of novel indicators based on repeated measures in the home environment, leveraging technologies like ActiMyo^33,34 to monitor changes in patients’ performance within their everyday settings.

Therefore, evaluating keystone abilities can be envisioned in two avenues of exploration:

Maintain flexibility in assessment tools: GAS offers a promising framework, contingent upon active patient collaboration in identifying specific functional objectives and especially keystone abilities. HCPs should specifically inquire about these during discussions with adults with SMA. Furthermore, existing validated assessments could be adapted to identify items most closely related to keystone abilities.

Develop standardized tools for underserved areas: The creation of new standardized instruments seems imperative for domains currently inadequately evaluated by existing tools (e.g., fine motor skills of the hands, speech). These novel instruments must balance individualized assessment with generalizability. Consequently, the development of quantifiable measurement tools in these areas is a critical ongoing initiative. The set of assessments devised by HCPs to evaluate individuals with severe forms of the disease appears to be a fruitful starting point for the development of these instruments.

The concept of acceptable life balance emphasizes the importance of the environment. However, recent research highlights the frequent omission of the physical environment in participation measures, ³⁵ despite its widely acknowledged importance. Assessing acceptable life balance would provide a means to approximate an individual's level of adaptation to their environment. It would also shed light on the response shift observed in quality of life evaluations.^36,37

Thus, an acceptable life balance could be considered a survival endpoint. It could be defined prospectively and integrated into research to determine when adults with SMA lose it and the treatment contribution to its maintenance.

This study is subject to several limitations. Firstly, while the sample size was sufficient according to SRQR and thematic analysis guidelines, it was restricted to French adults receiving care within a specific healthcare system. Although data saturation was achieved, future studies should investigate potential selection bias, particularly regarding non-participation and its reasons. A more socioculturally diverse or international sample could offer nuanced insights into expectations or assessment priorities as well as on evaluation practices by HCPs. Secondly, although perspectives from both patients and healthcare professionals were solicited, incorporating additional stakeholder voices such as caregivers, policymakers, and payers may further contextualize the implications of the identified disconnects in assessment paradigms. Thirdly, the cross-sectional nature of this study precludes the capture of how patient expectations may evolve over time or with disease progression. This is a critical yet often overlooked aspect, given the progressive and unpredictable nature of SMA.

In conclusion, this study provides valuable insights that can inform the future development of care practices for adults with SMA. Significant emphasis should be placed on incorporating the patient's living environment into the assessment process to obtain a more holistic understanding of their functional status. Finally, it is essential to develop robust and reliable methodologies for identifying and monitoring the critical keystone abilities described by patients, as these measures would complement standardized assessments and provide a more patient-centered approach to evaluation and care planning.

Supplemental Material

sj-docx-1-jnd-10.1177_22143602251413326 - Supplemental material for A qualitative study of the discrepancy between patient expectations and assessment practices in 5q-adult spinal muscular atrophy in France

Supplemental material, sj-docx-1-jnd-10.1177_22143602251413326 for A qualitative study of the discrepancy between patient expectations and assessment practices in 5q-adult spinal muscular atrophy in France by Guillaume Montagu, François-Constant Boyer, Marcela Gargiulo, Samuel Pouplin, Aurélie Barrière, Edouard Berling, Céline Bonnyaud, Pascal Cintas, Jean-Yves Hogrel, Lucie Le Goff, Brice Marchadier, Ghislain N’Dah Sekou, David Orlikowski, Hélène Prigent, Alexandra Pruvot, Juliette Ropars, Emmanuelle Salort-Campana, Tanya Stojkovic, Guillaume Nicolas, Sharam Attarian and Pascal Laforêt in Journal of Neuromuscular Diseases

Supplemental Material

sj-docx-2-jnd-10.1177_22143602251413326 - Supplemental material for A qualitative study of the discrepancy between patient expectations and assessment practices in 5q-adult spinal muscular atrophy in France

Supplemental material, sj-docx-2-jnd-10.1177_22143602251413326 for A qualitative study of the discrepancy between patient expectations and assessment practices in 5q-adult spinal muscular atrophy in France by Guillaume Montagu, François-Constant Boyer, Marcela Gargiulo, Samuel Pouplin, Aurélie Barrière, Edouard Berling, Céline Bonnyaud, Pascal Cintas, Jean-Yves Hogrel, Lucie Le Goff, Brice Marchadier, Ghislain N’Dah Sekou, David Orlikowski, Hélène Prigent, Alexandra Pruvot, Juliette Ropars, Emmanuelle Salort-Campana, Tanya Stojkovic, Guillaume Nicolas, Sharam Attarian and Pascal Laforêt in Journal of Neuromuscular Diseases