RARE FINDS: An evidence based early motor intervention approach for young children with rare disease

In the RARE FINDS study, Early intervention will be provided in accordance with the RARE FINDS principles including routine based intervention based on activity and participation, through repetition and practice, focused on education and empowerment, family centered and individualised provided within natural settings guided by developmentally appropriate assessment and commenced as soon as possible. Participants will be allocated a randomised A-phase (baseline A-phase, occurring before the intervention and maintenance A-phase, occurring after the intervention ) of the study of either 3, 4 or 5 weeks duration. During both A-phases of the study, participants will not receive intervention, only weekly assessment of the target behaviour measures. The intervention will occur in the B-phase of the study (after baseline A-phase and before maintenance A-phase) will be provided by an experienced Physiotherapist or Occupational Therapist. Intervention will be delivered in 8 face to face sessions within the home environment over the course of 8 weeks. Each session will be of 60minutes duration. Intervention will be individualised to the child's goal which will be determined in the goal setting stage of the study prior to the commencement of the baseline A-phase. Goals will be set using the RARE FINDS Goal Setting Template which will describe what the SMART goal is, how it will be achieved and the timeframe. Goals for this age group will typically relate to gross motor tasks such as transitioning between positions on and off the floor, ambulating independent or with assistance or negotiating steps or uneven surfaces. Therapists involved with the child will conduct an assessment as part of the study to determine contributing factors which may lead to challenges experienced around the goal i.e. low muscle tone, weakness etc, All interventions will involve a motor learning component based on the principles of motor learning and dynamic systems theory. Therefore, intervention will include upskilling of the caregiver regarding activities of daily living that can be modified to encourage child initiated movement and participation of the child within the task, reduce caregiver handling and facilitation associated with maintaining a position or posture, enhance the use of environmental cues and supports to encourage child initiated movement. The therapist will aim to use equipment and resources such as toys, furniture and surfaces available in the child's home environment rather than bringing external items into the home. The way in which the family and therapist will work together will be based on a family centered approach whereby the therapist will work with the family during the session for the entire duration to identify activities that the child can practice during daily routines to enhance their opportunity to practice skills related to their goal. Any handling or facilitation of activities will be first demonstrated by the therapist followed by caregiver practice with coaching support from the therapist to ensure the caregiver feels empowered and knowledgeable of the strategies that will be put in place. Recommendations will be captured in a home activities program which will updated and provided to the family after each session. An activity log will be used to evaluated adherence to the intervention including the number of sessions the child participates in over the course of the intervention period, the amount of practice the child engages in outside of session based intervention and any other alternative intervention or activity the child engages in during the week.