Needs management in families affected by childhood-onset dystrophinopathies

Abstract

Purpose: To collect information about the needs of families affected by childhood-onset dystrophinopathies residing in the United States. Methods: Individuals with an eligible dystrophinopathy were identified by the Muscular Dystrophy Surveillance, Tracking, and Research network. Between September 2008 and December 2012, 272 caregivers completed a 48-item survey about needs related to information, healthcare services, psychosocial issues, finances, caregiver demographics, and the individual’s functioning. Results: Overall, at least 80% of the survey items were identified as needs for more than one-half of caregivers. Among the needs identified, physical health and access to information were currently managed for most caregivers. Items identified as needed but managed less consistently were funding for needs not covered by insurance and psychosocial support. Conclusions: Healthcare providers, public health practitioners, and policymakers should be aware of the many needs reported by caregivers, and focus on addressing gaps in provision of needed financial and psychosocial services.

The NIH Toolbox for cognitive surveillance in Duchenne muscular dystrophy

“…Additionally, neuropsychological evaluations are recommended within the first year of diagnosis, when cognitive and behavioral concerns are first identified, and periodically as needed to track functioning . Yet, data from epidemiological studies and healthcare provider‐surveys demonstrate significant barriers that families face with adherence to standard‐of‐care guidelines. Access to specialty services and out‐of‐pocket expenses for families are key barriers to adherence .…”

“…Of note, only 24% of muscular dystrophy subjects had had a neuropsychological assessment in accordance with DMD Care Considerations . Furthermore, caregivers identified unmanaged psychosocial issues as an area of unmet need . A pertinent finding from the Neuromuscular Disease Healthcare Provider Survey found that psychological health was the “number one” area of high unmet need in neuromuscular disorders, affecting nearly 90% of patients, and more than 50% of the healthcare providers reported that access to a mental health professional as extremely challenging…”