OBJECTIVES: Rett syndrome (RTT) is a rare and severe neurodevelopmental genetic disorder that mostly affects females. Therapeutic professionals (TPs) play a key role in day-to-day care for RTT patients. This study aimed to identify the tools that TPs in the United States use for assessment of progress in RTT patients, and to characterize the strengths and limitations of these tools as perceived by TPs.

METHODS: TPs (physical therapists [PT], occupational therapists [OT], and speech and language therapists [ST]) and physicians who provide medical management and coordinate the care of RTT patients were interviewed in a semi-structured manner. Target sample included 20–25 TPs and 8–10 physicians representing diverse care settings (RTT Centers of Excellence, other outpatient and home health, and school-based care). A framework to evaluate the assessment tools was constructed based on the interview responses.

RESULTS: A total of 17 TPs (6 PT, 6 OT, 5 ST) working in community-based (n=10), school-based (n=5), and other (n=2) settings were interviewed, alongside 9 physicians (3 pediatricians and 6 pediatric neurologists). TPs reported the use of 22 assessment tools, including 6 RTT-specific tools (3 global function assessments and 3 tools focused on mobility and motor function). Tools unspecific to RTT were used to measure global function (n=4), activities of daily living (n=6), and cognition, communication, and psychosocial functioning (n=6). TPs preferred assessment tools with good clinical validity, practical utility, and sufficient sensitivity to show therapeutic progress or response to treatment; however, selection of a particular assessment tool depended on the TP’s discipline, and the symptoms experienced by the patient.

CONCLUSIONS: TPs utilize a wide range of tools for assessing therapeutic progress in patients with RTT. More standardized and consistent assessment by TPs may allow for greater understanding of patient’s therapeutic progress or response to treatment and facilitate goal setting.