Barriers and facilitating factors of care coordination for children with spinal muscular atrophy type I and II from the caregivers' perspective: an interview study

**Background:** Children with medical complexity (CMC) require long-term care from multiple health and social care professionals, leading to fragmented care. Spinal muscular atrophy (SMA) is a rare genetic neuromuscular disease (incidence 1:6,000 to 1:10,000 births/year) characterized by degeneration of alpha motor neurons due to loss or dysfunction of the SMN-1 gene. Care involves drug therapy and supportive treatment. Effective care coordination is considered key to addressing fragmentation, but relatively few studies focus on rare conditions. This study examined care coordination experiences from the perspective of caregivers of children with SMA I or SMA II.

**Methods:** This qualitative study was part of the exploratory, prospective, controlled, two-armed SMA-C+ study. Semi-structured interviews were conducted with N=21 caregivers of children with genetically confirmed SMA type I (62%) or type II (38%). Participants were recruited from three neuromuscular centers in Germany using maximum variation sampling guided by contrasting characteristics (patient age, health condition, family situation, geographic location). The interview guideline was developed based on life-course theory and covered three topics: general experiences in caring for a child with SMA, experiences in the care network, and experiences with care coordination. Interviews were conducted between August 2019 and April 2020 by a psychologist, lasting 24-56 minutes. Transcripts were analyzed via qualitative content analysis using a deductive-inductive approach, resulting in a final coding system of 7 main codes and 12 sub-codes.

**Key Results:** The final code system comprised: (1) Disease and coordination management of caregivers, (2) General conditions of care, (3) Expertise and skills, (4) Coordination structure, (5) Information exchange, (6) Role distribution in care coordination, and (7) Quality of relationship. Caregivers reported feeling a sense of sole responsibility for coordination, with many describing uncertainty and cognitive overload from coordination tasks. Nearly all caregivers reported acting as the central information carrier between care network members. Access to specialized care was limited by geographic location—one caregiver reported traveling 300 km to the neuromuscular center. Local healthcare professionals often lacked SMA expertise; caregivers described having to become "SMA experts" themselves. Existing coordination mechanisms were often unstructured and informal. Caregivers expressed a strong need for a designated contact person with medical expertise who could serve as a "bridge function" in the care network. Information exchange between healthcare professionals was described as heterogeneous, with some caregivers reporting no direct communication between local providers and the neuromuscular center. The quality of the relationship with healthcare professionals was the most frequently coded theme, with caregivers emphasizing the need for trust, continuity, and being taken seriously.

**Clinical Implications:** Care coordination in SMA is primarily the responsibility of caregivers, who function as the care network's interface. Coordination is influenced by family circumstances, geographic location, and institutional affiliation. Access to coordination support appears uneven, with caregivers of older, more experienced children reporting greater confidence. The study suggests that regular assessments, centralized shared care pathways, and staff training and empowerment of families for self-management should be central components of coordination models. Coordination mechanisms already tested in other chronic conditions could potentially work for SMA. The authors note that an individualized approach to coordination is needed, as family situations and care network availability vary considerably.