OBJECTIVES: Rett syndrome (RTT) is a rare genetic neurological and developmental disorder that predominantly affects females. Most children with RTT experience rapid regression affecting motor and communication skills and become severely disabled. This study aimed to describe the care pathway for RTT in the United States, particularly the role of therapeutic professionals (TPs).

METHODS: A series of semi-structured interviews with TPs (physical therapists [PT], occupational therapists [OT], and speech and language therapists [ST]) and clinicians who treat RTT patients (and may refer them to TPs) were conducted. The target sample aimed to include 20–25 TPs and 8–10 referring clinicians and provide a good representation of different care settings (RTT Centers of Excellence [COEs], non-COE outpatient and home health, and school-based care).

RESULTS: 26 healthcare professionals were interviewed, including 17 TPs (6 PT, 6 OT, 5 ST), and 9 clinicians (3 pediatricians and 6 pediatric neurologists). The TPs worked in community-based (n=10), school-based (n=5), and other (n=2) settings. The care pathway for RTT patients was driven largely by disease stage and age, and comprised three phases 1) early intervention for children ≤3 years of age aiming to improve functional skills through parental training, 2) school-based therapy for patients aged >3 years, focused on enabling access to education and integration in school, and 3) community-based therapy throughout the patient’s lifetime to support functioning at home and in the community. Notable challenges included limited experience with the RTT population and fragmentation of care potentially delaying referral to TPs, which COEs may be empowered to mitigate. Reimbursement and access issues were important barriers to optimal provision of early intervention and community care.

CONCLUSIONS: Outside of the limited number of COEs, patients with RTT face barriers to optimal care arising largely from lack of integrated care by RTT specialists and reimbursement and access issues.