Roxanna Bendixen

Results of a two-year pilot study of clinical outcome measures in collagen VI- and laminin alpha2-related congenital muscular dystrophies

Potential therapies are currently under development for two congenital muscular dystrophy (CMD) subtypes: collagen VI-related muscular dystrophy (COL6-RD) and laminin alpha 2-related dystrophy (LAMA2-RD). However, appropriate clinical outcome measures to be used in clinical trials have not been validated in CMDs. We conducted a two-year pilot study to evaluate feasibility, reliability, and validity of various outcome measures, particularly the Motor Function Measure 32, in 33 subjects with COL6-RD and LAMA2-RD. In the first year, outcome measures tested included: Motor Function Measure 32 (MFM32), forced vital capacity (FVC) percent predicted sitting, myometry, goniometry, 10-meter walk, Egen Klassification 2, and PedsQL(TM) Generic and Neuromuscular Cores. In the second year, we added the North Star Ambulatory Assessment (NSAA), Hammersmith Functional Motor Scale (HFMS), timed functional tests, Measure of Activity Limitations (ACTIVLIM), Quality of Upper Extremity Skills Test (QUEST), and Patient-Reported Outcomes Measurement Information System (PROMIS) fatigue subscale. The MFM32 showed strong inter-rater (0.92) and internal consistency (0.96) reliabilities. Concurrent validity for the MFM32 was supported by large correlations (range 0.623-0.936) with the following: FVC, NSAA, HFMS, timed functional tests, ACTIVLIM, and QUEST. Significant correlations of the MFM32 were also found with select myometry measurements, mainly of the proximal extremities and domains of the PedsQL(TM) scales focusing on physical health and neuromuscular disease. Goniometry measurements were less reliable. The Motor Function Measure is reliable and valid in the two specific subtypes of CMD evaluated, COL6-RD and LAMA2-RD. The NSAA is useful as a complementary outcome measure in ambulatory individuals. Preliminary concurrent validity of several other clinical outcome measures was also demonstrated for these subtypes.

Participation in daily life activities and its relationship to strength and functional measures in boys with Duchenne muscular dystrophy.

Abstract Purpose: While most studies of Duchenne muscular dystrophy (DMD) have focused on physical impairment, there is a need to explore how impairment impacts real-life experiences in order to provide intervention strategies focused on participation. Objectives were: (1) to investigate the domains of participation in a sample of boys with DMD; (2) to compare a younger (<10 years) and older (≥10 years) group of boys with DMD with regard to participation; (3) to investigate strength and timed functional tests in a sample of boys with DMD; (4) to compare a younger (<10 years) and older (≥10 years) group of boys with DMD with regard to strength and timed functional tests; and (5) to explore associations between participation and strength and timed functional tests for our DMD cohorts. Methods: This cross-sectional study included 60 boys with DMD (mean 9.3 years ± 0.3). Boys completed strength testing, timed functional tests, the Children’s Assessment of Participation and Enjoyment and the ACTIVLIM. Independent samples t-tests were used to test for differences in all measures between our younger and older cohorts; Spearman’s (rank) correlation was used to assess relationships between participation and strength and time functional tests. Results: Significant differences were found between our younger and older boys with DMD in the areas of recreational (p < 0.01), social (p < 0.001), and skill-based activities (p < 0.05), as well as with whom and where the activities were performed (p < 0.05 and 0.001, respectively). Older boys with DMD report lower levels of participation in these areas, as well as less engagement in activities with individuals other than family members and less participation outside of the home. Lower levels of strength and slower rates of functional performance correlate with participation in fewer physical activities for our younger cohort and fewer physical and social activities for our older cohort. Conclusions: Strength and function relate to the variability and type of activities in which boys with DMD participate. A key finding is the significant decline in social activities and community-based engagement as the boys with DMD age. The ultimate goal of an intervention is for our children to be as actively engaged in life as they desire. This requires addressing participation when measuring outcomes in order to more fully understand limitations and provide appropriate strategies for continued participation for boys and their families. Implications for Rehabilitation Duchenne muscular dystrophy is a devastating progressive neuromuscular disorder that leads to significant strength and functional limitations, which affect physical and social participation for these boys. The ability to move beyond clinically-based outcomes and assess and monitor a child’s daily activities through participation measures may provide information for therapeutic interventions. Rehabilitation specialists have a role as advocates for social and community engagement for children with physical limitations. Providing families with information on community-based opportunities, and the strategies and environmental modifications available may increase social participation for our youth growing up with a neuromuscular disorder.

Mixed-Method Exploration of Social Network Links to Participation.

The people who regularly interact with an adolescent form that youth’s social network (SN), which may impact participation. We investigated the relationship of SNs to participation using personal network analysis and individual interviews. The sample included 36 youth, aged 11 to 16 years. Nineteen had diagnoses of learning disability, attention disorder, or high-functioning autism, and 17 were typically developing. Network analysis yielded 10 network variables, of which 8 measured network composition and 2 measured network structure, with significant links to at least 1 measure of participation using the Children’s Assessment of Participation and Enjoyment (CAPE). Interviews from youth in the clinical group yielded description of strategies used to negotiate social interactions, as well as processes and reasoning used to remain engaged within SNs. Findings contribute to understanding the ways SNs are linked to youth participation and suggest the potential of SN factors for predicting rehabilitation outcomes.

Patient-Identified Impact of Symptoms in Spinal and Bulbar Muscular Atrophy

Introduction: The effects of spinal bulbar muscular atrophy (SBMA) on quality of life (QoL) are not well understood. This study describes symptoms from the patients perspective and the impact these symptoms have on QoL. Methods: We conducted open‐ended interviews with 21 adult men with genetically confirmed SBMA. Using a qualitative framework technique, we coded and analyzed interviews to identify symptoms and resulting themes. Results: From these interviews, 729 quotations were extracted. We identified 200 SBMA‐specific symptoms and 20 symptomatic themes. Weakness was mentioned by all interviewees. Symptoms within the domain of mental health and the specific themes of emotional issues and psychological impact were also frequently mentioned. Discussion: Numerous symptoms affect QoL for patients with SBMA. We identified previously unrecognized symptoms that are important to address in enhancing clinical care for patients with SBMA and in developing tools to evaluate efficacy in future clinical trials. Muscle Nerve 57: 40–44, 2018

Using a Multifaceted Approach to Working With Children Who Have Differences in Sensory Processing and Integration

Pediatric occupational therapy practitioners frequently provide interventions for children with differences in sensory processing and integration. Confusion exists regarding how best to intervene with these children and about how to describe and document methods. Some practitioners hold the misconception that Ayres Sensory Integration intervention is the only approach that can and should be used with this population. The issue is that occupational therapy practitioners must treat the whole client in varied environments; to do so effectively, multiple approaches to intervention often are required. This article presents a framework for conceptualizing interventions for children with differences in sensory processing and integration that incorporates multiple evidence-based approaches. To best meet the needs of the children and families seeking occupational therapy services, interventions must be focused on participation and should be multifaceted.

Social networks and participation with others for youth with learning, attention, and autism spectrum disorders.

Background. Social participation involves activities and roles providing interactions with others, including those within their social networks. Purpose. This study sought to characterize social networks and participation with others for 36 youth, ages 11 to 16 years, with (n = 19) and without (n = 17) learning disability, attention disorder, or high-functioning autism. Method. Social networks were measured using methods of personal network analysis. The Children’s Assessment of Participation and Enjoyment With Whom dimension scores were used to measure participation with others. Youth from the clinical group were interviewed regarding their experiences within their social networks. Findings. Group differences were observed for six social network variables and in the proportion of overall, physical, recreational, social, and informal activities engaged with family and/or friends. Qualitative findings explicated strategies used in building, shaping, and maintaining social networks. Implications. Social network factors should be considered when seeking to understand social participation.

Holistic Needs of University Students with Invisible Disabilities: A Qualitative Study.

ABSTRACT Aim: To inform rehabilitation professionals’ role in supporting transition to higher education through identification and description of disability related needs experienced by university students. Methods: Participants were recruited from a large research-intensive university in the southeastern United States and included 13 students eligible for university disability services, 9 university personnel, and 1 parent of a university student with a disability. Disabilities of study participants were invisible; all but one chose to disclose diagnostic information. Data from 15 individual interviews and 2 focus groups were analyzed for themes. Results: The Navigating Parallel Demands theme elucidates the ways disability related needs extended beyond the classroom to areas of health and wellness, social, and daily living. Navigation in Context describes personal and environmental circumstances surrounding processes used to meet a broad-range of demands. Conclusion: University participation requires students with disabilities to navigate and manage a wide range of demands while securing appropriate supports. Findings inform rehabilitation professionals in providing anticipatory guidance when preparing students with invisible disabilities for postsecondary educational transitions.

Behavioral Activation Approach to Parent Training: Feasibility of Promoting Routines of Exploration and Play During Mealtime (Mealtime PREP)

OBJECTIVE. Systematic approaches are needed to help parents with young children adopt healthy routines. This study examined the feasibility (home data collection, protocol adherence, intervention acceptance) of using a behavioral activation (BA) approach to train parents of children with sensory food aversions. METHOD. Parents of young children (18–36 mo) were trained using the novel Promoting Routines of Exploration and Play During Mealtime intervention. Measures included video-recorded meals, Fidelity Checklist, Treatment Acceptability Questionnaire, and Behavioral Pediatrics Feeding Assessment Scale. Descriptive statistics were used. RESULTS. Eleven children and their parents completed the study. Two of three feasibility benchmarks were met. Intervention acceptance was high (mean score = 43/48). On average, parents used three more intervention strategies after training than at baseline. CONCLUSION. Using a BA approach to parent training shows promise for altering daily mealtime routines. Delivering this intervention in the home is feasible and received acceptable ratings among this sample.

Upper extremity outcome measures for collagen VI-related myopathy and LAMA2-related muscular dystrophy

Congenital muscular dystrophy (CMD) comprises a rare group of genetic muscle diseases that present at birth or early during infancy. Two common subtypes of CMD are collagen VI-related muscular dystrophy (COL6-RD) and laminin alpha 2-related dystrophy (LAMA2-RD). Traditional outcome measures in CMD include gross motor and mobility assessments, yet significant motor declines underscore the need for valid upper extremity motor assessments as a clinical endpoint. This study validated a battery of upper extremity measures in these two CMD subtypes for future clinical trials. For this cross-sectional study, 42 participants were assessed over the same 2-5 day period at the National Institutes of Health Clinical Center. All upper extremity measures were correlated with the Motor Function Measure 32 (MFM32). The battery of upper extremity assessments included the Jebsen Taylor Hand Function Test, Quality of Upper Extremity Skills Test (QUEST), hand held dynamometry, goniometry, and MyoSet Tools. Spearman Rho was used for correlations to the MFM32. Pearson was performed to correlate the Jebsen, QUEST, hand-held dynamometry, goniometry and the MyoSet Tools. Correlations were considered significant at the 0.01 level (2-tailed). Significant correlations were found between both the MFM32 and MFM Dimension 3 only (Distal Motor function) and the Jebsen, QUEST, MyoGrip and MyoPinch, elbow flexion/extension ROM and myometry. Additional correlations between the assessments are reported. The Jebsen, the Grasp and Dissociated Movements domains of the QUEST, the MyoGrip and the MyoPinch tools, as well as elbow ROM and myometry were determined to be valid and feasible in this population, provided variation in test items, and assessed a range of difficulty in CMD. To move forward, it will be of utmost importance to determine whether these upper extremity measures are reproducible and sensitive to change over time.