Background: Spinal muscular atrophy (SMA) has a remarkable impact on function and participation. Subsequently, the caregivers of individuals with SMA are impacted as well. Providers and the SMA community should be aware of the presence of and likely expectations for the existence of caregiver burden. Methods: The Assessment of Caregiver Experience with Neuromuscular Disease (ACEND) quantifies caregivers’ perceptions of function and quality of life pertaining to time, finance and emotion. Analyses were conducted among SMA types and ambulatory and ventilatory status. Participants with SMA had varying ranges of function and were on pharmaceutical treatment. Total ACEND score, longitudinal change in total ACEND score, total quality of life (QOL) score, change in total QOL score and subdomains for QOL, including time, emotion and finance, were all explored. Results: Overall, the ACEND demonstrated discriminant validity and some observed trends. Total ACEND scores improved for caregivers of those with SMA 2, remained stable longitudinally for caregivers of those with SMA 1 and 3 and were not influenced by ventilation status. The caregivers of individuals with SMA 1 had the lowest total quality of life (QOL) score, as did the caregivers of non-ambulatory individuals and those requiring assisted ventilation. Longitudinally, there were no changes in total QOL between caregivers of individuals with different SMA types or ambulatory or ventilation status. There were some differences in emotional needs, but no differences in financial impact between the caregivers of individuals with different types of SMA or ambulatory and ventilatory status. Conclusions: With this information enlightening the presence of caregiver burden and expected changes in burden with pharmaceutical treatment, providers, third party payors and the SMA community at large can better assist, equip and empower those providing the necessary assistance to enable the lives of those with SMA.

Background: The clinical course of Spinal Muscular Atrophy (SMA) has been transformed by new disease-modifying therapies (DMT). Before DMT, the clinical course of SMA was marked by an inflection point between developmental improvement and degenerative functional losses. The well-established SMA classification by “type” was based upon the age and functional level at which this inflection point manifested. Following DMT, the natural history of SMA has evolved. The evolution of the SMA clinical course following DMT thus necessitates an updated means to characterize individuals with SMA. Objective: To address both clinical and research needs, an updated assessment should target meaningful function; apply broadly across the range of SMA; maximize the granularity of functional tiers with minimal compromise of reliability; require minimal or no specific training; and be validated with measurable consistency between both naïve and experienced clinicians, and between these clinicians and members of the SMA community. Methods/Design: Development of the Functional Ability Scale for Evolving SMA (EVOLVE-SMA) proceeded as an iterative scale creation and refinement process using retrospective cohorts (for design, reliability, and validity) followed by prospective assessments of real-world feasibility and reliability. Results: Excellent interrater reliability (ICC >0.9, p < 0.001) was established between expert and novice clinicians (physician and physical therapist) and clinicians versus SMA community members. Conclusions: EVOLVE-SMA is a tiered evaluation of function applicable to the new DMT-treated era of SMA. It is a simple, granular, and reliable means to assess meaningful functions that will have value to research, resource allocation, and individual clinical care.

Background: Individuals with Spinal Muscular Atrophy (SMA) often present with muscle contractures. Serial casting has been used in a variety of other peripheral nerve, muscle, and central nervous system disorders to improve knee and ankle range of motion limitations and functional performance in both ambulatory and non-ambulatory individuals.Objective: The goal of this study was to reach a consensus about the parameters, considerations and general guidelines that should inform practice when serial casting to improve flexibility in individuals with SMA.Methods: This international effort was conducted between August 2020 and May 2023. An expert panel of physical therapists was assembled with multiple panel meetings and a 2-round Delphi survey performed covering topics relevant to serial casting which included three domains: clinical appropriateness, program-based considerations and program adherence/feasibility. Consensus was reached for all items in the three topic areas using a validity index of >75%. Following completion of the Delphi survey, community insights from patients and caregivers were collected via semi-structured interview.Results: This study included the synthesis of meetings from the initial expert panel which produced a comprehensive survey for the different considerations when performing serial casting for an individual with SMA. The study also included the completion of a Delphi survey by 18 therapists in round 1 and 15 therapists in round 2 for a consensus on 296 items. Strong consensus was obtained in all three domains with 96.6% agreement for clinical appropriateness, 95.0% agreement for program-based considerations, and 96.9% for program adherence/feasibility. A guideline document was developed enumerating the specific items detailed in the survey. Community perspectives were utilized to support the results of the Delphi survey and to add insight into real-world experience.Conclusion: The serial casting guidelines developed upon collaborative discussions from the expert panel and from the Delphi survey consensus and semi-structured interviews, should be utilized when applying serial casts to patients with spinal muscular atrophy. Future endeavors should look to apply the guideline recommendations to determine casting efficacy for improving joint contracture and impact on function for those with SMA.

Functional neurological disorder (FND) sits at the intersection of neurology and psychology and has a variety of presentations, severity, and symptomatology. It affects a considerable number of pediatric patients and overwhelmingly influences healthcare spending. Diagnosis, treatment, and outcomes are varied, challenging, and lack standardization, often leading to frustration from patients, caregivers, and providers. Multidisciplinary care is essential though communication is often complex and disjunct. Using quality improvement tools and experiences from one institution, a team was established to ameliorate these concerns. A clinical care pathway was designed for the diagnosis and treatment of FND in the pediatric inpatient setting. This pathway was the result of the multidisciplinary team effort and an outcome, highlighting the need for early and intentional diagnosis with diagnosing provider specified, provider education and consistent language, patient and caregiver education, and clear and thorough discharge planning. Through the implementation of this pathway, it is anticipated that patient and provider satisfaction will improve as will the outcomes and care given to affected individuals. This work can be applied to the global treatment of FND and raise awareness to effectively managed care as well as the opportunity for clinicians to drive institutional change.

Background: Functional neurological disorder (FND) is a complex, multinetwork brain disorder that is characterized by the presence of a broad range of neurological symptoms in the absence of neurological disease or damage. For pediatric patients requiring an in‐patient stay, misdiagnosis, lack of provider consistency and diagnostic education, frequent testing and work‐up, and invasive procedures are often reported. This review will characterize the population, identify current state for receiving diagnosis, detect variability in service delivery, and provide information to evaluate use of resources. Methods: This retrospective chart review examined electronic medical records (EMRs) of 59 patients at a pediatric teaching hospital who were admitted following a visit to the emergency department. Records were compiled by the rehabilitation department with inclusion criteria as having a documented diagnosis of FND or as having a similar functional movement related diagnosis such as chorea, panic disorder, and psychogenic nonepileptic seizure (PNES). Extracted data included the following: demographics, patient characteristics, admission characteristics and experience, and discharge recommendations. Results: Fifty‐nine charts were initially reviewed with 57 meeting inclusion criteria. The subjects in this study had a mean age of 13.7 years (SD: 6.33) and 80.7% were female. The most commonly reported psychiatric diagnoses included anxiety (66.7%), ADHD (29.6%), and depression (22.2%). The most commonly reported FND symptoms at admission were weakness (47.4%), gait instability (28.1%), sensory disturbances (26.3%), and tremor (19.1%). Physical therapy consultations were the most frequently performed (66.7%), followed by occupational therapy (52.6%), psychiatry (38.6%), and psychology (5.3%). No interdisciplinary care conferences were performed. The mean length of stay was 5.13 days (SD: 4.45 days). Readmission rate after 30 days was 16.5%. Conclusions: This retrospective EMR review identifies opportunities to improve care for pediatric FND, including reducing unnecessary imaging, testing, and readmissions through strengthened provider, patient, and family education. Findings also highlight inconsistent referrals to physical therapy, occupational therapy, and mental health services. Addressing these gaps may enhance patient experience, support more coordinated interdisciplinary care, and reduce healthcare utilization for this under‐recognized population.