Development of the Addenbrooke's MSK screening tool (AMST) for children and adolescents with cystic fibrosis.

Background: Musculoskeletal (MSK) issues are common in the paediatric population and in people with CF. There is currently no MSK screening tool for children and adolescents with CF. Methods: The protocol to develop the pGALS (paediatric Gait, Arms, Legs, Spine) was followed to create this screening tool. Paediatric respiratory and MSK physiotherapists, and paediatric respiratory doctors at a large teaching hospital were involved in the creation of this tool. This was then reviewed by paediatric respiratory doctors and physiotherapists at a second large teaching hospital with amendments added. One year data of this screening tool used on children over 7 was collected and analysed as a secondary outcome of this project. Results: There were 81.8 % more positive screens for MSK issues in the newly developed screening tool compared to the year using Manchester MSK screening tool; there were also 6 more referrals all deemed as appropriate by the services referred to. Almost half of the population screened using the developed tool were positive for an MSK issue, this was commonly related to poor posture or correctable kyphosis. Kyphosis, as measured by plumb line, appeared to be associated with negative health outcomes in this population; pectoralis major length was also associated with kyphosis and these negative health outcomes. Conclusion: The development of this tool has followed the protocol set out by the PGALs and has shown some promise with interesting initial results. This tool will need further validation before it is used in the wider paediatric CF population.

Late Presentation of Tricho-Rhino-Phalangeal Syndrome (TRPS1 Affected) Associated Hip Pathology.

Perthes disease typically presents between the ages of 4 and 9 years and is characterized by unilateral or bilateral avascular necrosis of the femoral head. Clinically it presents with pain and decreased range of motion and has a disease course of up to 5 years. We report the clinical and radiological findings of a female in early adolescence who was referred to pediatric physiotherapy and found to have Perthes-like changes of the hip, on a background of tricho-rhino-phalangeal syndrome type 1 (TRPS1). The patient's first symptoms of hip pain were reported at age 10, but there was no radiographic evidence until 2.5 years later when a diagnosis of Perthe's disease was made. This uniquely late presentation may have been due to the altered skeletal maturation seen in TRPS1, whereby skeletal age lags behind chronological age. This case highlights the importance of identifying relevant past medical history on initial assessment, and having rapid access to radiology and orthopedic support to enable timely diagnosis, as prognosis becomes poorer as age increases. Perthes-like changes should be considered as a differential diagnosis in patients presenting with non-traumatic hip pain, regardless of age of onset.