Abstract
This case series adds evidence regarding the importance of occupational therapy in targeting self-care interventions with children diagnosed with amyoplasia.
Arthrogryposis multiplex congenita (AMC) is an umbrella term used to classify a group of rare congenital conditions characterized by multiple nonprogressive joint contractures related to fetal akinesia (Langston & Chu, 2020). In addition to joint contractures, an individual with AMC may have respiratory, gastrointestinal, and central nervous system complications, among other systems involvement, depending on their specific underlying diagnosis (Cachecho et al., 2021). AMC is associated with more than 400 disorders and can be further subdivided into amyoplasia, distal arthrogryposis, and syndromic arthrogryposis (Bamshad et al., 2009). Individuals with amyoplasia commonly present with shoulder internal rotation, elbow extension, wrist flexion, curled fingers, and thumbs in adduction, in addition to potential contractures affecting their spine, hips, and lower extremities (LEs; Oishi et al., 2019). Amyoplasia results in a lack of muscle development or underdevelopment of muscle tissue and replacement with fatty or connective tissue (Kimber, 2015).
Joint contractures can lead to significant limitations in participation in activities of daily living (ADLs) and functional mobility (Dahan-Oliel et al., 2022). Occupational therapy practitioners are often involved in orthosis fabrication, stretching, strengthening, and postoperative care (Cachecho et al., 2021). However, there is a scarcity of information and a lack of practice guidelines for occupational therapy practitioners to reference (Dahan-Oliel et al., 2022). Furthermore, the published and identified treatment interventions regarding ADLs, adaptive strategies, and assistive technology (AT) for this specific client population are limited.
Occupational therapy practitioners play an important role in the recommendation and implementation of AT (Dishman et al., 2021). Per the Technology- Related Assistance for Individuals With Disabilities Act of 1988, AT is defined as “any item, piece of equipment, or product system, whether acquired commercially off the shelf, modified, or customized, that is used to increase, maintain, or improve functional capabilities of individuals with disabilities” (§3[1], p. 3). AT can include augmentative and alternative communication, cognitive aids, computer access, electronic aids related to daily living, seating and mobility devices, recreation, environmental modification, accessible transportation, and technology for learning disabilities (Rehabilitation Engineering and Assistive Technology Society of North America, 2022). Although available evidence on the use of AT with children with AMC is limited, Babik et al. (2021) confirmed that assistive devices can affect their motor development. Furthermore, occupational therapy practitioners can provide AT and teach modified positions to assist with maximizing the child’s independence and sense of autonomy (Wagner et al., 2019).
Occupations are central to the care provided by occupational therapy practitioners (American Occupational Therapy Association, 2020), who require guidance on evidence-based interventions and theoretical models that can be used to inform their clients’ care. Elfassy et al. (2020) reported that the lack of information regarding interventions to address issues aside from physical function for clients with AMC creates a knowledge gap for clinicians. Therefore, this case series used a descriptive observational design to describe the effectiveness of self-care interventions for pediatric clients with amyoplasia.
Method
The retrospective case series was completed to provide a detailed description of the interventions specific to this unique population. Research ethics board approval and written consent were obtained before the case series was drafted. Given the study design, it was deemed to be nonresearch.
Participants
Three participants, ages 7, 8, and 15 yr (M age = 10) were included in this case series on the basis of retrospective chart reviews. Participants met the following criteria: diagnosed with amyoplasia, younger than age 18 yr, reported difficulty with completion of daily activities, and participated in a week-long bout of care.
Participant 1, Martha (all names are pseudonyms), was a 7-yr-old girl diagnosed with amyoplasia affecting the bilateral upper extremities (UEs) and LEs. Martha had a history of surgical interventions, including bilateral carpal wedge osteotomies, extensor carpi ulnaris to extensor carpi radialis brevis tendon transfers, thenar releases with index finger flap transpositions, and left elbow tricepsplasty between ages 4 and 6 yr. She had a history of home health occupational therapy and physical therapy. Her parent reported that the home health occupational therapy practitioner addressed ADLs and stretching but had limited experience working with children with AMC. At baseline, Martha required total to maximal assistance to complete ADLs. Martha typically used a manual wheelchair propelled by her parents in the community. Her primary form of mobility in her home environment included scooting on her bottom and rolling.
Participant 2, Rachel, was an 8-yr-old girl diagnosed with amyoplasia affecting only her UEs. She had a history of a left elbow release, capsulotomy, and tricepsplasty, in addition to a right-hand middle, ring, and small finger camptodactyly release with rotational flap, volar fascia release, and exploration of extensor tendons between ages 2 and 3 yr. At baseline, Rachel had adapted many of her ADLs; however, she was referred to occupational therapy to further improve independence with grooming tasks, specifically hair brushing and nail trimming, upper body dressing, and perineal hygiene after toileting. She had not received formal occupational therapy since early intervention services completed when she was 3 yr old. Her parents reported that her previous occupational therapy services focused on attainment of developmental milestones and orthosis fabrication.
Participant 3, Kaitlyn, was a 15-yr-old girl diagnosed with amyoplasia affecting the bilateral UEs and LEs. She had a history of bilateral triceps lengthening, ulnar nerve transposition, and posterior capsular release between ages 6 and 8 yr. She had a history of LE surgeries at an external facility to address bilateral equinus foot deformities and knee flexion contractures. The client was nonambulatory and primarily used her power wheelchair for mobility. She had a history of receiving home health occupational therapy and physical therapy services; however, she had been discharged because of a plateau in progress at age 5 yr. Her previous occupational therapy services focused on sensory integration, stretching, and fine motor skills. She also briefly received school occupational therapy on a consultative basis primarily for handwriting. Kaitlyn required total assistance for all ADLs.
Theoretical Foundation
The Canadian Model of Occupational Performance and Engagement (CMOP–E) was used to guide the plan of care for all three clients. The CMOP–E defines occupations as a bridge between the person and the environment (Polatajko et al., 2007). Of note, the model differentiates between occupational performance and occupational engagement; thus, a client can fully engage in an occupation without physically performing it. The CMOP–E assumes humans are occupational beings, that occupations affect health and well-being, and that they bring meaning to life (Turpin & Iwama, 2011).
Assessments
Standardized assessments completed for each participant included the Canadian Occupational Performance Measure (COPM) and the FIM® or Functional Independence Measure for Children (WeeFIM®), based on the client’s age. 1 Additionally, range of motion (ROM) was measured during the evaluation for a baseline assessment (Table 1). ROM was not retested after the end of the week-long occupational therapy intervention because the visits focused on ADL performance.
Range of Motion in the Participants’ Upper Extremities
Note. Abd = abduction; AG = against gravity; AROM = active range of motion; ER = external rotation; GE = gravity eliminated; NT = not tested; PIP = proximal interphalangeal joint; PROM = passive range of motion; WNL = within normal limits.
COPM
The COPM is a client-centered outcome measure for individuals age 6 yr and older that is used to identify and prioritize everyday issues that restrict their participation in everyday living (Law et al., 1990). This assessment is used to analyze the client’s perceived performance and satisfaction by rating each identified activity on a scale ranging from 1 (poor performance or low satisfaction) to 10 (excellent performance or high satisfaction) for both categories, with 10 being optimal performance and satisfaction. A change of 2 points or more is a clinically important difference (Law et al., 2019; McColl et al., 2023). The COPM was selected for use with this client population because of its versatility and reported responsiveness to detect change (Eyssen et al., 2011).
FIM and WeeFIM
The FIM has been used with children age 8 yr or older, and the WeeFIM has been used with children ages 6 mo to 7 yr, 11 mo old (Slomine, 2011). Each item is scored on a scale ranging from 1 (complete dependence) to 7 (complete independence). The WeeFIM is modeled on the FIM (Granger et al., 1993). The items related to bowel and bladder management and cognition were not administered because these items were not pertinent to the focus on ADLs.
Transfers were assessed only in the initial evaluation because the interventions focused on ADL performance. Martha was working on mobility with a physical therapist in the home health setting, so her mother wanted to focus on AT use for ADLs during the bout of care. Rachel was at her maximal level of independence for transfers and mobility, and Kaitlyn was nonambulatory and dependent for all transfers because of her severe joint contractures affecting all four limbs.
Interventions
Model of Care
All three of the participants completed a week-long occupational therapy intervention, “Daily Skills Bootcamp,” once a day for 5 days for approximately 90 min each visit. Each of the families lived hours away from the orthopedic hospital. The dosage of therapy allowed for an introduction to AT, education and training of caregivers and clients, and an opportunity to problem-solve adaptive strategies unique to the client’s needs. Interventions for each client focused on goals identified in their evaluation and with the COPM.
Intervention Types
Interventions targeted AT for ADL independence, environmental modifications, and caregiver education, with a focus on improving occupational performance. All three clients and their caregivers had limited knowledge of AT and techniques at the evaluation.
AT ranging from high tech to customized low-tech options was used to empower the clients to overcome their limitations and interact with their physical and social environments more independently. The following ADLs were addressed, respective to each client’s individual goals (Table 2): dressing; feeding; and bathing, toileting, and grooming.
Assistive Technology Interventions Used by the Participants
Note. X denotes AT discussed, trialed, or both during bout of care. ADL = activity of daily living.
Dressing
Dressing tree and suction hooks (shirts, pants, socks).
Martha, Rachel, and Kaitlyn all used a dressing tree, a low-tech device fabricated out of a bike rack and wooden board, to assist with increasing independence in upper body dressing. Heavy-duty lashing straps were recommended so that families could move the device and account for growth. The soft foam-coated hooks acted as long arms, holding the inverted shirt in place while the client brought their UEs into the sleeves and head through the shirt opening. Clients unhooked themselves from the device using their hands or their teeth, depending on their physical abilities (Figure 1).
Dressing tree.
Martha mobilized by scooting on her bottom; thus, the dressing tree needed to be low enough for her to access it. Mounting the device to the door or wall was not feasible because of her knee extension contractures, which prevented her from accessing the arms of the tree. Securing the tree to a bench-like structure was recommended so her LEs could go under the device while she scooted toward the hooks.
For Rachel, the device was mounted to the door and placed at a height that was low enough to allow her to bring her UEs into the shirt but still high enough for her to squat under to thread her head through without exceeding the ROM available in her hips and knees.
Kaitlyn used her power wheelchair for all functional mobility in her home and preferred to use it to assist with navigating the dressing tree. The device was mounted to the wall, and Kaitlyn used her power wheelchair seat elevation and powered propulsion features to help her get close enough to place the shirt onto the hooks as well as to raise and lower herself to thread her arms and head through the appropriate openings.
A heavy-duty suction hook was trialed; however, all three clients preferred the dressing tree. Nevertheless, the hook may be beneficial for some users because it is portable, less cumbersome, and easily positioned at various angles. These hooks are typically used for car dent removal and windshield glass placement; however, for dressing purposes, the hook allowed clients to doff clothing by placing the bottom of their shirt on the hook and squatting or scooting backward. The hook was sanded down to reduce the sharpness, and a felt liner was placed on top of the hook for safety (Figure 2).
Dressing hook.
Dressing stick.
Dressing sticks were cut down to a length that was most suitable to the client’s capabilities. For Rachel, the cap and single hook were placed back on the cut end of shortened stick because she was able to manipulate the device with her UEs. Kaitlyn used her mouth on the dressing stick to help doff her clothing; therefore, the end was capped and then wrapped in a self-adhering elastic bandage.
Belt loops on lower body garments.
Sewing fabric belt loops to the tops of lower body garments was recommended so that clients could use their fingers or a hook to don or doff their clothing.
Key-ring zipper pull.
Martha was eager to doff her ankle foot orthoses (AFOs); however, her limited pinch strength resulted in difficulty maintaining her grasp of the end of the AFO strap. A key-ring zipper pull was placed at the end of the hook-and-loop straps of Martha’s AFOs. She then was able to hook her index finger onto the ring and use momentum to swing her UE and unstrap her AFOs.
Feeding
Magnetic self-feeding device.
A magnetic feeding device modeled after the Bear Paw feeding device was fabricated using PVC pipe, a heavy-duty magnet, a small lazy Susan, and suction cups (Figure 3; Davidson, 2020). This device was trialed with both Martha and Kaitlyn because of their limitations in elbow ROM. The clients used their mouths to bite down on the handle of various metal utensils to scoop or pierce the food and place it on top of the magnet at the top of the device. Using their mouths, they then rotated the utensil to a position that was easily accessible for them to bring their mouth to the food to eat. Martha was successful using the magnetic feeding device; however, she reported fatigue with only a few scoops. Kaitlyn used her device with success during her session and for meals outside of the clinic. She and her parents preferred this option because it was more compact and cost-effective than a robotic device.
Magnetic feeding device.
Robotic feeding device.
A robotic feeding device was trialed with Martha because of her limitations in UE function (Obi, 2025). The device allowed Martha to manipulate a robotic arm via switch buttons; the arm scoops food from different compartments with the attached spoon and brings it to the user’s mouth. The switch buttons were placed close to Martha’s hands to accommodate her limited elbow and wrist motion and strength. After one demonstration, Martha was able to use the switch buttons and feed herself.
Bathing, Toileting, and Grooming
Toileting aids.
All clients and their parents were educated on different hygiene devices for toileting, including permanent and portable bidets. Occupational therapy practitioners recommended bidets with light-touch buttons rather than lever handles to allow clients to use them independently. The portable bidet was modified with a thermoplastic cuff attachment to increase ease of button manipulation (Figure 4).
Portable bidet.
Scrubber mats.
Silicone bath scrubber mats with suction cups were recommended for all three clients to assist with bathing tasks. One mat was placed either on the wall of the shower or tub or on the back of the client’s shower chair to help them clean their backs. A second mat was then placed on the bath floor to help them wash the bottoms of their feet.
Long-handled devices.
Long-handled sponges, hair washers, and hairbrushes were used to accommodate Kaitlyn’s and Rachel’s joint contractures. Rachel’s ROM assessment was used to determine positioning with her dominant right UE supported on a tabletop flat surface; she then completed elbow flexion and extension in a gravity-eliminated plane of motion. Rachel used a similar technique with a long-handled hairbrush.
Toothbrushing.
Martha and Kaitlyn relied on their parents to complete toothbrushing because they were unable to grasp or bring a toothbrush to their mouth. A toothbrush holder was fabricated out of a gooseneck phone stand with heavy-duty magnets embedded inside and a clamp so that it could be attached to a shelf, ledge, or other sturdy surface in the bathroom. A commercial toothbrush was adapted with an additional magnet and a silicone cuff; the clients picked it up and placed it on the holder with their mouths (Figure 5).
Magnetic stand for toothbrushing.
Light-touch soap dispenser with suction cup.
A light-touch soap dispenser was recommended for all three clients. Martha trialed a suction cup soap dispenser placed closer to the base of the tub, which allowed her to further increase her participation in soap application during bathing.
Nail clippers.
A suction cup nail clipper was used with Rachel to assist with nail trimming (Figure 6). The clipper was set up for Rachel on a tabletop surface, and she used her hand to push down without having to hold onto the device. Rachel additionally tried a 3D-printed device by designer Nisker (2018) via Thingiverse called the Flipper Clipper (Figure 7). The 3D-printed clipper was lightweight and easy for Rachel to push down on compared with a nonadaptive clipper and the suction cup clipper.
Suction cup nail clipper.
3D-printed Flipper Clipper.
Environmental Modifications
The occupational therapy practitioners discussed environmental modifications to address occupational performance. Martha’s and Kaitlyn’s caregivers were educated on increasing the accessibility of their bathrooms using the following recommendations: zero-threshold shower entry, lower shower knobs or levers, and consideration of a bath lift versus a traditional tub transfer bench or chair. All clients’ family members were educated on the various uses of voice-activated devices that can increase engagement, reduce caregiver reliance, and improve accessibility to the physical and social environment by syncing with compatible appliances and smart plug outlets.
Caregiver Education
Information on functional ADL performance.
Because of their unique anatomy, some occupations required clients to use devices and techniques, including the use of their mouth or feet, to manipulate devices. Caregivers were encouraged to focus on building on the child’s strengths and capabilities to promote their becoming autonomous and self-sufficient adults. Caregiver understanding of function and autonomy can play a significant role when discussing surgical interventions because any orthopedic corrections affect how clients with AMC complete their self-care.
Importance of problem-solving and task analysis.
Occupational therapy practitioners have unique expertise in task analysis and can break down each activity to analyze the client’s physical, cognitive, social, and environmental factors. Although occupational therapy practitioners have this skill set and access to different resources, it is important for everyone involved in the client’s care to collaborate with each other for treatment to be successful. Caregivers have their own expertise in caring for their child in their home environment, and the child has the lived experience of their diagnosis; therefore, active participation from all parties was highly encouraged to ensure carry-over of techniques at home.
Results
Pre- and postintervention data are displayed in Tables 3 and 4. All clients and their caregivers reported functional improvements during their discharge visits. Martha’s functional independence improved from total to maximal assistance at baseline to maximal to moderate assistance at discharge. Her self-feeding level of independence remained the same because her mother noted that she did not yet have the robotic feeding device and thus required maximal assistance at discharge. Martha’s COPM scores improved by 3.0 points for performance and 6.8 points for satisfaction.
Participants’ FIM® or WeeFIM® Scores at Evaluation and Discharge
Note. Martha was assessed with the WeeFIM; Rachel and Kaitlyn with the FIM. 7 = complete independence (timely, safely); 6 = modified independence (device, increased time); 5 = supervision; 4 = minimal assistance (participant completed ≥75% of activity); 3 = moderate assistance (participant completed ≥50% of activity); 2 = maximal assistance (participant completed 25%–49% of activity); 1 = total assistance (participant completed 0%–24% of activity).
Participants’ Scores on the COPM Performance and Satisfaction Subscales Pre- and Postintervention
Note. All three of the participants’ COPM Performance and Satisfaction scores improved on the basis of a combination of child and caregiver report. COPM = Canadian Occupational Performance Measure.
Rachel’s baseline functional independence levels varied because she required moderate assistance with grooming and maximal assistance with upper body dressing. At discharge, Rachel’s independence ranged from minimal assistance to modified independence. Rachel’s COPM scores improved 3.6 points for performance and 3.2 points for satisfaction.
Last, Kaitlyn’s functional independence ranged from total to maximal assistance at the evaluation to total to modified independence at discharge. Kaitlyn’s discharge FIM scores reflected improvements in feeding, grooming, and dressing. Kaitlyn’s COPM scores improved 6.4 points for performance and 7.0 points for satisfaction.
Discussion
Occupational therapy practitioners have a professional responsibility to collaborate with the multidisciplinary health care team, clients, and their families to create a plan of care that leads to improved independence and quality of life. Pediatric occupational therapy practitioners need to look beyond the typical developmental motor assessments and consider client-reported outcome measures to target occupations of interest to the child and family. Occupational therapy practitioners should opt for models of care, AT, and environmental modifications that are tailored to the client’s specific needs. Clinicians should consider both low- and high-technology devices, focus on the purpose of AT rather than solely on its typical use, and consider the impact of independence in self-care on health equity for their clients with AMC.
Limited data and guidance are available on how to address ADLs with pediatric clients with amyoplasia (Dahan-Oliel et al., 2022). This case series provides detailed information on how to address self-care skills effectively and emphasizes the impact of occupational therapy services on improving occupational performance through appropriate and holistic interventions. All three participants demonstrated clinically significant improvement in COPM scores. Their FIM or WeeFIM scores improved in relation to the skills targeted during the intervention. We anticipate that with more data and increased awareness of how to address ADLs with clients with amyoplasia, occupational therapy practitioners will be able to implement learned information in clinical practice.
Limitations
The case series design does not prove causality secondary to a descriptive study design. Additionally, standardized outcome measures for the specific client population are lacking. The COPM has been used with children; however, its psychometric properties have not been assessed directly with pediatric clients with amyoplasia (Cusick et al., 2007). Last, changes were only assessed at the evaluation and after the completion of the week of care. Future researchers may build on this case series by following clients’ care during medical clinic visits or contacting caregivers by telephone to readminister the COPM and determine longitudinal changes.
Implications for Occupational Therapy Practice
This case series has the following implications for occupational therapy practice: Integrating client-centered, occupation-based interventions and AT is essential to promote independence and optimal functioning in the home and community. Occupational therapy practitioners’ unique skill set in modifying environments and adapting activities to a person’s needs can contribute to the development and creation of AT. Many of the devices described in this case series can be used with clients with a variety of different diagnoses. Further education and training during entry-level occupational therapy and occupational therapy assistant curricula and continuing education courses need to be considered. Connecting theories, knowledge of pediatric development, and body structures and functions is vital to guide care effectively and holistically. Researchers should direct their attention to developing best-practice methods regarding individuals living with amyoplasia. Areas of further research may include the creation of population-specific outcome measures for ADLs and further investigation of the effectiveness of occupation-based treatment and AT.
Conclusion
Occupational therapy practitioners have the unique opportunity to collaborate and create a client- and family-centered plan of care to address meaningful ADLs. From the COPM theory-based perspective, occupations can act as a bridge between the person and their environment. The model of care may vary on the basis of the child’s specific needs, and AT, adaptive strategies, and caregiver education are all necessary components of care that can empower caregivers and clients to increase independence and occupational performance.
Footnotes
1FIM® is a trademark of the Uniform Data System for Medical Rehabilitation, a division of UB Foundation Activities, Inc.
Acknowledgments
We thank the participants for their willingness to be included in this case series. We also appreciate Eddie Krische from the Scottish Rite Orthotics and Prosthetics Department and Brad Niese from the Engineering Lab for their continued collaboration and support.