384P Functional Outcome Measures (FOMs) guiding clinical care of children with Duchenne muscular dystrophy

• Published in: Neuromuscular disorders : NMD 2024-10, Vol.43, p.104441, Article 104441.112
• Main Authors: Khandekar, G., Shyamprasad, S. Banavara, Babu, R. Ramesh, Kumar, A., Satyam, P., Maganthi, M., Krishna, G., Mathew, A.
• Format: Article
• Language: English
• ISSN: 0960-8966
• DOI: 10.1016/j.nmd.2024.07.121

Duchenne muscular dystrophy (DMD) is the commonest inherited neuromuscular disorder affecting only boys. A defect in the DMD gene causes a lack of dystrophin protein which leads affected individuals to sustain muscle damage leading to progressive muscular weakness and loss of ambulation. The primary goal of management in this progressive life-limiting disease, is to maintain ambulation as long as possible and quality of life. Early initiation and timely titration of corticosteroid therapy is an important factor to prolong ambulation. Though steroid dosing is initially started based on the weight of the child, dose adjustment is guided by his functional status, which is measured using standard functional outcome measure scales as per the DMD consensus guidelines 2018. Here we enunciate the utility of Functional Outcome Measures (FOMs) which guide the clinician in making these crucial decisions on steroid dose adjustment. In this retrospective study, we included seventy-six boys from our center who had genetically confirmed DMD aged from 4 years to 10 years. We further divided them based on their ages into subcategories with the first including affected individuals between 4-7 years and the second with those aged between 7-10 years. The younger subgroup had 33 subjects and the older one had 43 subjects. Their steroid dosage and FOM scores from two visits to our center 3-6 months apart were collected. The FOM was assessed by a trained pediatric neuromuscular physiotherapist using the following scales – North Star Ambulatory Assessment (NSAA), Six-minute Walk Test (6MWT) and Time to rise from lying (TTrise). The mean age of onset of symptoms for the 4-7-year subgroup was 33.8 months and for the 7-10 years subgroup was 38.76 months. The mean age of commencing steroids for those in the 4-7 years subgroup was 65.18 months versus 80.88 months for the 7-10 years. 27/33(81.8%) of the subjects with DMD in the younger age group remained on the same dose of steroids as their FOM scores improved with baseline dose prescribed. The steroid dose was increased for 6/33 (18.2%) subject in this subgroup as their scores had deteriorated between two clinical observations. In the subgroup of older subjects aged 7-10 years, there was a steroid dose escalation in 25/43 (58.1%) subjects as their scores had deteriorated and hence, they were dose adjusted according to their weight, whilst 18/43 (42%) subjects in this subgroup continued on the same dose as their scores had not deterio