Current rehabilitation practice for the evaluation and treatment of children with arthrogryposis: an international survey

Abstract Purpose To describe the current practices in rehabilitation for the evaluation and treatment of children with arthrogryposis multiplex congenita (AMC). Materials and methods Rehabilitation practitioners worldwide with at least 2 years of experience with AMC were invited to complete an electronic survey on the evaluations and treatments used with children with AMC within five areas: muscle and joint function, self-care, mobility, pain, participation and psychosocial wellbeing. Results Sixty five participants from nine countries completed the survey. Participants completed the sections applicable to their practice. Number of participants within each area varied between 24 and 53. Over 80% of participants used non-standardized evaluations across areas while <50% used patient-reported or standardized measures. Stretching of upper and lower limbs was reported by >80% across ages and clinical presentation severity. Strengthening reported by >70% was mainly used among children >3 years old with less severe contractures. Other interventions used across areas included orthotics (>70%), positioning (>80%), activity-based training (>80%), assistive devices for self-care (>50%) and mobility (>80%), and energy conservation (>70%). Over 70% of participants were involved in perioperative rehabilitation. Conclusion Knowledge of current pediatric rehabilitation practice in AMC, together with empirical evidence, may guide clinical decision-making and identify avenues for future research. Implications for Rehabilitation Arthrogryposis multiplex congenita (AMC) is a group of rare conditions and there is currently little empirical evidence on rehabilitation, therefore expert opinion is important to guide best practice. Rehabilitation practitioners should consider the areas of muscle and joint function, self-care and mobility, pain, participation, and psychosocial wellbeing when evaluating and developing a treatment plan for children with AMC. Considering the heterogeneity of AMC, different assessment tools may be selected depending on the clinical presentation of each child. In addition to stretching, orthotic use, and strengthening, the use of activity based training and assistive equipment is important to promote self-care, mobility and participation.


Introduction
Rehabilitation in rare diseases, such as arthrogryposis multiplex congenita (AMC), is often under-represented in research due to lack of funding [1,2], thereby limiting availability of evidence and resources for management.AMC describes congenital joint contractures in two or more body areas [3], and affects 1 in 3000 live births [4,5].Individuals with AMC may have contractures in the upper limbs, lower limbs, the spine and jaw, with varying distribution and severity, causing limited joint movement and muscle weakness [6,7].Contractures do not progress to previously unaffected joints, but may change over time with growth and treatment [3].Function in daily activities may be impaired in children with AMC, especially in the areas of self-care, transfers, mobility, and sports [8][9][10].Children with AMC typically undergo several orthopedic surgeries to correct limb deformities, early and post-operative rehabilitation, splinting and bracing to improve range of motion [11,12].Early intensive rehabilitation is warranted and advocated by many researchers [13,14].Given the rarity, heterogeneity and complexity of the diagnosis, children with AMC require multidisciplinary care that can be found in specialty centers [15,16].
There is a lack of evidence to guide clinicians as few studies have documented the rehabilitation treatment for this population [7, [17][18][19].Rehabilitation practitioners may encounter only a few individuals with AMC throughout their career, who may significantly differ in their clinical presentation and needs.For these reasons, rehabilitation practitioners reported a lack of knowledge and experience when treating individuals with AMC and the need for the development of guidance for the rehabilitation of children with AMC [20].Rehabilitation needs for this population were identified in a qualitative study with youth with AMC, their parents, and clinicians [20].These needs were further validated at the July 2017 annual AMC support group (AMCSI) meeting in Las Vegas with stakeholders (i.e., youth with AMC, parents, and clinicians) who rated the importance of the identified needs and ranked their top five priorities.Using the World Health Organization's International Classification of Health, Functioning and Disability (ICF) as a theoretical framework, the rehabilitation needs were mapped to the ICF domains (Figure 1) [21] leading to the following five priorities for the development of rehabilitation clinical guidance: muscle and joint function, pain, mobility and self-care, participation, and psychosocial wellbeing.
Preliminary work to identify the current state of the literature on these five priority areas consisted of a series of scoping reviews as a lack of empirical studies in rehabilitation precluded a systematic review [7, [17][18][19].These scoping reviews revealed a lack of high-quality studies (e.g., clinical trials) or consensus guidelines to guide clinicians toward the most clinically useful and suitable assessment tools and best evidence-based rehabilitation interventions for individuals with AMC.
In light of the paucity of research to guide clinical decisions, the expertise, experience and knowledge of clinicians is important to inform best care [22].Clinical guidance would inform key endusers, such as clinicians, youth, and family representatives, on the assessment and treatment approaches indicated for this population.To address this need, a multi-phase project to develop expert guidance for the rehabilitation of children with AMC is currently underway, and a manuscript describing its methodology has been published [23].Current rehabilitation practices in AMC will be identified using a clinician survey.Using the Grading of Recommendations, Assessment, Development and Evaluations framework approach, a panel of interdisciplinary expert clinicians, patient and family representatives, and researchers will develop expert guidance on the assessment and treatment for pediatric AMC rehabilitation based on findings from the scoping reviews and survey results.Consensus on the guidance statements will be sought using a modified Delphi process with a wider panel of international AMC experts.Therefore, the aim of this study was to describe current practices of rehabilitation practitioners worldwide on the evaluation and treatment of children with AMC.This will provide needed information for the development of rehabilitation guidance for AMC and future implementation studies [23].

Materials and methods
To identify current clinical practice in pediatric rehabilitation in AMC, the experience of rehabilitation practitioners working with children with AMC worldwide was sought through an electronic survey questionnaire.

Ethical approval
We obtained site approval from the Shriners Hospitals for Children (CAN2004) and ethical approval from the institutional review board of the Faculty of Medicine of McGill University (A03-E51-20B).

Participants
Rehabilitation practitioners (occupational therapists (OT, physical therapists (PT), social workers (SW), physiotherapy technologists) with at least 2 years of experience working with children with AMC, and who could read and understand English, were invited to participate in this study.Two years of experience were required for inclusion in this study in order to ensure sufficient exposure to this clientele for rehabilitation practitioners to be able to share about their practice.To determine eligibility, an initial question on years of experience was included in the electronic survey and only eligible participants were invited to proceed with the survey.

Procedures
Invitations to participate were sent electronically with a link to the survey.Participants were asked to provide electronic consent prior to completing the survey, with the informed consent discussion form provided at the beginning of the survey.Potential participants were recruited from hospitals and rehabilitation centers in North America, Europe, Australia and Asia.Participants around the world were identified through literature reviews, contacts established by the research team through research collaborations and speakers at AMC annual conferences.The research team reached out to patient support groups in the USA, Europe and South America and a recruitment flyer was shared on social media channels of AMC Support Inc. to disseminate the invitation for participation in this research study to clinicians.A snowball recruitment technique was also used to increase reach worldwide.Two reminders to complete the survey were sent at two-week intervals, from the date the initial invitation was sent.

Material
The survey was built on the Qualtrics platform, and was piloted with one OT and one PT external to the research team, to identify any content and formatting issues.In order to build the content of the survey questionnaire, the team used the rehabilitation assessments and interventions reported in the scoping reviews on the five priority areas previously identified (muscle and joint function, pain, mobility and self-care, participation, and psychosocial wellbeing) [7, [17][18][19].The survey questionnaire was complemented with other assessments and interventions used in pediatric rehabilitation in order to ensure that it is comprehensive.Specifically, for each area mentioned above, questions inquired about the different assessments and interventions that rehabilitation practitioners use with children with AMC, across age groups (0-2 years, 3-6 years, 7-12 years, 13-18 years,) and severity levels (mild, moderate, severe) (Supplementary Material).Severity levels referred to the degree of joint contractures and their impact on function.Six additional questions were specific to perioperative rehabilitation.Open text boxes were available across the survey to allow participants to provide additional information or comments.Participants were asked to answer questions pertaining to the areas that they treat in their current practice, such that participants may answer questions about mobility but not about self-care because they do not address self-care in their practice.Demographic information on the respondents was collected at the beginning of the survey (e.g., profession, country, area of practice, years of experience working with children with AMC).

Data analysis
Descriptive statistics were used to describe demographic data, evaluation and treatments.Participants' comments were qualitatively synthesized.

Participant characteristics
Over 368 invitations were sent to rehabilitation practitioners, of these 108 participants accessed the questionnaire and agreed to participate in the study (29.3% response rate).Twenty-one potential participants did not meet the two year experience criteria, and were therefore not retained to complete the survey questionnaire.Of the 87 participants who met the inclusion criteria and proceeded with the survey, 22 were excluded from the analysis due to incomplete data as no data was provided on the evaluation and treatment approaches.Sixty-five participants (28 OTs, 37 PTs) were included in the analysis.Participants were from nine countries and came from a range of experience in terms of practice setting, years of experience and caseload.See Table 1 for details on demographic data.All respondents worked in a multidisciplinary team.Teams were composed of orthopedic surgeons (91%), orthotists (80%), OTs (74%), PTs (72%), social workers (52%).Less than half of the respondents reported having geneticists, pediatricians, neurologists, psychologists, speech language pathologists, physician assistants, plastic surgeons, and nurse practitioners on their teams.

Survey results according to rehabilitation priority area
Participants completed the sections that apply to their practice; therefore, the number of respondents for each area differed.1. Evaluation approaches: A summary of the evaluation approaches used across rehabilitation areas is provided in Table 2.
A few differences were identified within severity levels and age groups among the evaluation tools across the different areas.MMT was reported most frequently with the 7-18 years old group.The Timed Up and Go and 6 min Walk test were reported more frequently with patients with mild-moderate severity (76%) and in the older age group (7-18 years; 75%).The Faces Pain Scale was reported most frequently among children 3-12 years of age (59%), and the numeric and visual analog scales among the older age group (7-18 years; 82%).No other trends were identified based on severity and age groups.
For the evaluation of the spine (38 respondents), not shown in the Table 2 A summary of treatment approaches used for the upper and lower limb is provided in Figure 2. Interventions reported in the "other" category for the upper and lower limbs included aquatic therapy, play-based interventions, weight bearing activities, functional tasks and Neurodevelopmental Treatment (NDT-Bobath).In the lower limb group, strengthening was more frequently reported in patients over 3 years old.In their comments, respondents reported the importance of starting stretching and orthotics in the first year of life.For treatment of the spine, 89% reported using positioning, 74% strengthening, 64% stretching, and 54% orthotics.There were no differences between severity or age groups for the treatment approaches used for the upper limb and the spine.The Playskin lift was reported more frequently with toddlers 0-2 years old (62%).For self-care, a variety of assistive equipment were reported such as adapted utensils, built-up handles, dressings aids (e.g., reacher, dressing stick, dressing tree, wall mounted hooks, sock aids), toileting aids (e.g., long handle sponge, wipeaid), anti-slip material, toilet/shower chairs, and grab bars.For mobility, assistive equipment included ambulation devices, transfer aids, strollers and wheelchairs.As reported in open ended questions by all participants, the presence of contractures or impairments in the upper extremities affects the choice of assistive devices for mobility and the way transfers and transitions are addressed (e.g., sit to stand, floor mobility, motor acquisition, stairs).Participants mentioned that ambulation devices may need to be modified in the presence of upper limb limitations (e.g., adapting handles, using orthotics for upper extremity support).The potential for self-propulsion in a manual wheelchair is evaluated and the use of a powered wheelchair may be recommended when self-propulsion is not functional.Different types of accesses for powered mobility can be considered to accommodate for upper limb limitations.Participants commented on the importance of collaboration between OT, PT and orthotists when considering ambulation and mobility aids.About half the interventions targeting self-care and mobility occurred in the clinical setting while one third were provided in the child's school, home or community.c.Participation (n ¼ 51 participants) Areas of participation addressed included leisure/play (96%), sports (88%), home tasks (84%), school tasks (76%), accessing technology (57%), transportation (39%), work (22%), driving (12%), and volunteering (6%).Intervention approaches are summarized in Figure 4. Collaboration with external resources included school, vocational support, psychosocial support and community resources (e.g., patient organisations, adapted sports and sport associations, and recreation therapy and centers).There were no trends based on severity of contractures.A summary of pain interventions is provided in Figure 5.The most frequently used interventions to address pain were education (e.g., activity modification, joint protection, and energy conservation), the use of orthotics, stretching and heat modalities.Heat modalities were most frequently reported with the 7-18 years old group (67%).Other interventions reported were the use of hydrotherapy (6%).There were no trends based on severity of contractures.
Eighty percent of respondents reported referring their patients with AMC for orthopedic consultations, regardless of age.Seventy-seven percent reported referring their patients regardless of level of the severity while the rest referred children with moderate to severe joint contractures only.The most common reason for referral to orthopedic surgery was the presence of range of motion deficits and joint contractures with functional impact (49%), and presence of pain (15%).Among the participants, 78% reported providing pre-operative rehabilitation interventions, and 88% provided post-operative rehabilitation, over 80% of whom will offer this regardless of age or level of severity.Prior to surgery, 35% reported setting post-operative goals and 59% reported doing so sometimes.Tools for goal setting, used by 75% of participants, included the COPM, the Patient Specific Functional Scale, and the Goal Attainment Scale.Refer to Figure 7 for a summary of the post-operative intervention approaches.

Discussion
The aim of this study was to describe current practices of rehabilitation practitioners worldwide for the evaluation and treatment of children with AMC in the areas of muscle and joint function, selfcare and mobility, pain, participation, and psychosocial wellbeing.Baseline evaluations consisted of range of motion, strength, and interviewing/observation of functional skills more so than performance based and patient-reported outcome measures.Rehabilitation interventions included stretching, orthotics and strengthening, starting in the first year of life, and activity-based training and use of assistive equipment for self-care, mobility and    participation needs.The role rehabilitation in perioperative care in AMC was highlighted.
AMC is characterized by the presence of joint contractures at birth associated with abnormal joints and musculature [5].Therefore, evaluating range of motion and strength is the baseline for describing muscle and joint function in a child with AMC [7].However, in order to obtain a full clinical picture and understanding the impact of limitations on everyday life (i.e., mobility, selfcare, participation), it is important to evaluate the child holistically.The ICF framework used to map the areas of rehabilitation interventions is useful to ensure this holistic approach (Figure 1).Most survey respondents relied on interviewing patients and their families and on observation, to evaluate function, while standardized and patient reported outcome measures were used less often.Few outcome measures have been validated with the AMC population.Four gait and balance tests, not reported in this survey, were recently shown to have good to excellent test re-test reliability among adolescents and adults with AMC (10-m walk test, Figure-of-8 walk test, 360 degree turn test and Modified Four Square Step Test) [24].Normative scores for the PODCI have been established for Amyoplasia, a subtype of AMC [8] and it was shown to have have good to excellent psychometric properties among various pediatric populations [25].Other outcome measures reported by rehabilitation practitioners and/or in research, although not validated with AMC, included the WeeFim [9,26], PEDI [9, 27,28], FMS [9,29] and ABILHAND-Kids [30] and the PROMIS [31], PDMS-2 [32] and AIMS [33].Considering the heterogeneity of AMC, different assessment tools may be selected depending on the clinical presentation of each child.In addition, rehabilitation practitioners should consider the five priority areas that were identified by key stakeholders when evaluating and identifying a treatment plan.Patient-reported outcome measures are tools that help capture the patient's perception of their health and the impact of their condition on their daily life.The increased use of patient-reported outcomes was shown to be beneficial, from a stakeholder's perspective, in involving patients in their care, prioritizing patients' needs and goals, tailoring interventions and monitoring outcomes [34].The PODCI and PROMIS have been used to evaluate functional and psychological outcomes (physical function, pain, social function and mental wellbeing) in children with AMC and may be useful in evaluating results of surgical and nonsurgical interventions [31][32][33][34][35].This is especially important as individuals with AMC undergo several orthopedic surgeries to correct limb deformities and the functional impact of such surgeries should be documented [12,13].A consideration is that the availability of evaluation tools may be restricted based on availability in different countries, languages, cultural adaptability, ease of access and cost.
In terms of rehabilitation interventions, stretching, strengthening and orthotic use starting early in life were reported by the majority of the survey participants and consist of the first line of treatment for children with AMC.Survey respondents reflected the importance of initiating stretching and positioning in the first year of life to maximize joint mobility, ensure proper joint alignment, and improve overall development and function.The research evidence supporting rehabilitation interventions with children with AMC is based on observational studies (case series and reports) and expert opinion (review articles) [7, [17][18][19].Several case reports have demonstrated that the use of daily stretching, strengthening, positioning, serial splinting or casting, with infants with AMC, lead to improvement in joint ROM, joint alignment and motor development [26,32,36,37].It is also important to monitor joint ROM over time and to maintain a stretching program and/or orthosis wear regimen in order to minimize the recurrence of contractures with growth [26,32,36,37].Orthotics are also used for a functional purpose, such as dynamic elbow orthoses to facilitate hand-to-mouth patterns for self-feeding [38,39], or lower limb orthoses (KAFO, AFOs, carbon fiber spring orthoses) to provide support and alignment for ambulation [40,41].Serial casting to correct lower limb deformities has been reported in the literature but less so in this survey [13,26,42,43].This discrepancy may be due to the fact that orthopedic surgeons or cast technicians are more likely to perform the casting as compared to rehabilitation practitioners in most clinical settings.Case series on the use of upper extremity exoskeletons with infants or children with AMC and muscle weakness [33,44,45] have reported improvement in upper extremity function, reaching, object manipulation and functional tasks like feeding.However, the use of exoskeletons in the clinical setting appears to be limited as seen in this survey, and may be due to difficulty accessing such equipment, cost, and complexity of use in different settings; thus, more research may be required to support and facilitate their use.
In addition to targeting muscle and joint function to promote mobility and self-care skills, most survey respondents reported using activity based training and assistive equipment to address these two areas.Although widespread in clinical practice, these interventions are rarely described in the literature, as there are few studies describing specific rehabilitation interventions targeting mobility and self-care in AMC [14,45,46].A few studies have shown that ROM and strengthening interventions can help improve gait pattern in children with AMC and other orthopedic pathologies [40,47].Of importance, survey respondents reported that when considering ambulation aids or wheelchair use, the function of the upper extremities should be evaluated in order to provide the device that is appropriate to the child's functional needs and abilities.Different types of assistive equipment exist to promote self-care, transfers, mobility and participation, and are selected and adapted based on an evaluation of the child's capacities, using a multidisciplinary team approach [14].Most participants reported working in multidisciplinary teams consisting mainly of orthopedic surgeons, orthotists, OTs, PTs, and social workers highlighting the importance of a multidisciplinary approach in AMC [15,16,19].Environmental barriers, although not queried in this survey, should be considered as they may hinder the ability of a child to participate in various social contexts, despite the availability of assistive equipment.
Collaboration with community resources appears to be an important element when addressing participation for children with AMC.Similar to children with other musculoskeletal disorders, participation is essential to promote physical and emotional wellbeing [48].Knowledge of community resources is important to help guide children with AMC towards meaningful activities.However, such resources may not be available depending on location or geographical area.The use of social media and support groups has become a way for individuals with AMC, their family and therapists to exchange about strategies to manage their condition, learn from each other and explore different techniques to perform various activities [18,49].As participants in this study consisted of PTs and OTs and not other disciplines, only a small number reported addressing psychosocial needs of individuals with AMC.No studies have reported on the use of specific interventions to improve psychosocial wellbeing in children with AMC [19] and more research is needed to improve the role of rehabilitation practitioners in this area.
Various interventions targeting pain were reported by participants as being tailored to the specific needs of the child (e.g., education, orthotics, stretching, thermal modalities).Pain has been reported mainly in the adult AMC population, but there is little empirical evidence to guide the choice of treatment to address pain in children with AMC [17].A case study described the benefit of conservative rehabilitation treatments on the pain level of an infant with AMC [32], indicating the lack of evidence in this area.Other interventions (e.g., kinesiotaping, education, positioning, assistive technology, hippotherapy, massages) are supported for pain management among children with cerebral palsy [50] and could be explored in AMC.
The role of rehabilitation following upper and lower limb orthopedic surgery is essential to maximize outcomes and prevent recurrence of contractures over time [12].As reported in the current survey and in the scoping review by Gagnon and colleagues [7], post-operative interventions include the use of orthotics, range of motion exercises, strengthening exercises and functional activities.Rehabilitation protocols used post-operatively and orthosis wear regimen depend on the surgery performed and are not always detailed in the literature as to the duration, intensity and frequency.Clinicians may also provide pre-operative rehabilitation in preparation for surgery.Although this has not been reported in studies on AMC, pre-operative rehabilitation may provide several benefits for individuals undergoing orthopedic surgery and should be considered when available and feasible.Benefits of pre-operative rehabilitation may include reduced pain, improved strength, range of motion and functional capacity before surgery leading to reduced hospital stay, quicker recovery, and improved physical function and postoperative outcomes [51].
Findings from this survey, together with current research evidence, will be used to guide the development of rehabilitation expert guidance for the evaluation and treatment of children with AMC [23].Next steps include a panel of experts in the field of AMC, including clinicians and patient representatives, who will consider the data from this survey and use the Grading of Recommendations, Assessment, Development and Evaluations approach, a standardized methodology for guideline development, to develop specific guidance statements for the rehabilitation of children with AMC, in the five areas of interest explored in this survey.The statements will undergo a process of validation, including a modified Delphi process with a larger group of experts and patient representatives in this field.Clinical guidance will inform key end-users on rehabilitation approaches indicated in AMC and guide treatment.

Limitations
Although the survey intended to capture clinical practices at the international level and included participants from nine countries across four continents, close to 70% of rehabilitation practitioners came from North America.Therefore, rehabilitation practitioners in certain parts of the world, such as low and middle income countries, were not represented.Even though the recruitment strategy aimed to maximize the number of potential participants, the low response rate and incomplete responses among some participants may limit the external validity of the findings.Furthermore, participation in the survey may have been limited to a certain niche of clinicians in specialized centers working with children with AMC who could complete the survey in English.Despite our intent to include social workers and physiotherapy technologists, we were only able to recruit PTs and OTs, which may have biased the responses in certain areas where other professionals may have had better expertise.The input of orthotists may have also been beneficial when discussing orthotic use.

Conclusion
OTs and PTs working with children with AMC reported the evaluation and treatment approaches used across five areas of interest.Although most interventions targeting muscle and joint function are supported by observational studies, there are few studies documenting specific rehabilitation interventions across the ICF domains.Knowledge of current pediatric rehabilitation practices in AMC, in complementarity with empirical evidence, will inform the development of rehabilitation expert guidance to assist in clinical decision-making.

Figure 1 .
Figure 1.Mapping the rehabilitation priority areas in AMC to the International Classification of Functioning, Disability and Health Framework.
b. Self-care (n ¼ 38 participants) and mobility (n ¼ 54 participants): A summary of the treatment interventions used for self-care and mobility is provided in Figure 3.The most commonly used treatment interventions reported, namely activity-based training, interventions targeting muscle and joint function, and referral or provision of assistive equipment, were used across all age groups and levels of severity.

Figure 2 .
Figure 2. Percentage of participants reporting on treatments of the upper limb and lower limb.Figure 3. Proportion of participants reporting on treatment approaches for selfcare and mobility.

Figure 3 .
Figure 2. Percentage of participants reporting on treatments of the upper limb and lower limb.Figure 3. Proportion of participants reporting on treatment approaches for selfcare and mobility.

Figure 4 .
Figure 4. Proportion of participants reporting on treatment approaches for participation.

Figure 5 .
Figure 5. Proportion of participants reporting on treatment approaches for pain.

Figure 6 .
Figure 6.Proportion of participants reporting on intervention approaches for psychosocial needs.

Figure 7 .
Figure 7. Proportion of participants reporting on post-operative intervention areas.
, only two evaluation approaches were reported by over 90% of participants: clinical observation of posture at rest and screening for deformities.2. Treatment approaches according to rehabilitation priority areas: a. Muscle and joint function (upper limb n ¼ 52 participants; lower limb, n ¼ 43 participants; spine, n ¼ 38 participants)

Table 2 .
Summary of evaluation approaches used across areas.
AROM: active range of motion; FPS-R: Faces Pain Scale-Revised; MMT: manual muscle testing; NRS: Numeric Rating Scale; PROM: passive range of motion; PROs: patient-reported outcomes; VAS: Visual Analogue Scale.