Authors (including presenting author) :
Kwong ST(1), Ng CS(1), Yue CK(1), Yip HT(1), Cheng P(1), Lam PL(1), Chan HSS(2)(3)(4)(5)
Affiliation :
(1)Physiotherapy Department, Queen Mary Hospital, (2)Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, (3)Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, (4)Department of Paediatrics and Adolescent Medicine, Hong Kong Children's Hospital, (5)Department of Paediatrics, The University of Hong Kong-Shenzhen Hospital
Introduction :
Spinal Muscular Atrophy (SMA) had been an incurable and progressive neuromuscular disease. It is caused by the mutation in the SMN1 gene leading to reduced SMN protein levels and a selective dysfunction of motor neurons. Recently, a life-long, intrathecal medication is developed to treat the disease by increasing the level of SMN protein. Queen Mary Hospital (QMH) is the center for the drug administration to pediatric patients in Hong Kong. Physiotherapist has an important role in monitoring the progression of the patients’ motor function under the treatment program
Objectives :
SMA motor function assessment is conducted by a newly formed team of dedicated physiotherapists. There is regular and comprehensive training to the team members to ensure the assessment is performed with ultra-high quality as well as maintaining high interrater and intrarater reliability. The assessment process also has to be recorded precisely to capture the subtle changes in patients’ motor performance.
Methodology :
Baseline physiotherapy assessment is performed before the initiation of the medical treatment. Subsequent assessments would be done regularly along with the administration of medication. From 7 May 2018 to 21 November 2021, 26 patients have been screened and assessed by the team.
Assessment has to be tailor made as the spectrum is broad in patients’ age and mobility level. Different assessment tools are utilized according to their specific purpose. There are age-specific assessment tools. For example, Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND) is designed for infant cases while Hammersmith Functional Motor Scale Expanded (HFMSE) is applied for patients aged 2 or above. On the other hand, some of the tools are designed to measure different domains of motor functions. For example, Revised Upper Limb Module(RULM) is specifically designed to measure upper limbs function while the Six Minute Walk Test (6MWT) is used to assess walking performance. During assessment, therapist have to be gentle when positioning the patients into different assessment positions as joint subluxation and osteopenia is common in SMA. Standby chest physiotherapy is also required when the patient has a very weak respiratory function. All of the above factors make the task very time-spending and challenging.
Result & Outcome :
As the program is brand new in Hong Kong, we have to gain experience gradually during this pathfinding process. Despite the significant input in time and manpower, it is worthwhile as we can share the joy with patients to see their improvements over time.
