Long term follow-up of scoliosis progression in type II SMA patients

: The aim of this study is to retrospectively assess onset and progression of scoliosis in type II SMA patients not treated with the approved disease modifying treatments. Scoliosis was evaluated by measuring the scoliosis angle on X-ray obtained in the anteroposterior view in sitting position (Cobb's angle method). Eighty-four patients had at least one assessment of scoliosis angle (287 assessments). There was a positive correlation between age and scoliosis angles (p<0.001) with a progressive increase of scoliosis with age. When subdividing the population by HFMSE score (<10; 11-22;> 22), there was a progressive increase in scoliosis angles with decreasing HFMSE scores. The difference between HFMSE categories was significant (p<0.001). Fifty-four patients had at least two assessments at 6-month distance and were retained for the longitudinal analysis. Using a mixed model, age, functional status and scoliosis angle at baseline were predictive on scoliosis progression. The mean annual rate of increase of scoliosis angle was 5.63 (95%CI: 4.74-6.52). Our results confirm the progression of scoliosis in untreated type II SMA providing details of the progression in relation to different variables. With different therapeutical options being available in many countries, our findings will provide reference data for establishing possible differences in the trajectories of progression with treated type II individuals

Oral and Swallowing Abilities Tool (OrSAT) in nusinersen treated patients

Introduction The aim of the study was to longitudinally assess swallowing abilities in nusinersen-treated patients with type 1 spinal muscular atrophy. Methods Twenty infants with type 1 SMA (11 female and 9 male) treated with nusinersen between 3 weeks and 15 months of age, were assessed using the Oral and Swallowing Abilities Tool (OrSAT). The duration of the follow-up after treatment ranged between 12 months and 62 months. Results Twelve of the 20 infants had normal swallowing and there was no need for tube feeding at the time treatment started. Ten of the 12 had consistently normal swallowing with no need for tube feeding on follow-up. The other two required tube feeding but they regained the ability to eat some food by mouth. The remaining 8 infants already had tube feeding inserted at the time treatment started: 4 of them also had tracheostomy and they showed no changes on the OrSAT Scale. The other 4 who had tube feeding but no tracheostomy had partial functional improvement. Conclusion Our results suggest that the degree of functional impairment at the time treatment is started can help to predict the progression of swallowing abilities. The use of a structured assessment also helped to detect partial improvements.New interventions have radically altered the natural history of Spinal Muscular Atrophy. In this report, oral and swallowing outcomes are report following interventions, widening our understanding of the potential benefits of early treatment

T1-weighted axial MRI of the shoulder.

<p>T1-weighted axial MRI of the shoulder at the level of the humeral head (H) showing increased signal suggestive of fatty replacement in the muscles at this level. The involvement is milder in the youngest ambulant patients aged 10 and 11 (a and b respectively) with more evident fatty replacement in the subscapularis (arrowhead) and infraspinatus (arrow) and more marked in the older non-ambulant ones, both 17 years old (c and d), with severe involvement of all the muscles shown in image d.</p

Individual details of imaging and PUL findings at shoulder, arm and forearm level.

<p>The shading reflects the severity of involvement with the score of 0 shown as a white cell, score of 1 as pale green, score of 2 as yellow, score of 3 as orange and score of 4 as red. The grade 2.5 was used to identify patients with 2b involvement. Del = deltoid; suprasp = supraspinatus; infrasp = infraspinatus; subscap = subscapularis; pec = pectoralis; corac = coraco-brachialis; serr = serratus anterior; lat = latissimus dorsi; bic = biceps brachii; brac = brachialis;tri = triceps brachii; sup = supinator;pron = pronator teres;F cp = flexor carpi radialis; palm = palmar; F ds = flexor digitorum superficialis; F cu = flexor carpi ulnaris; Fdp = flexor digitorum profundus; Anc = anconeus; E cu = extensor carpi ulnaris; Edm = extensor digiti minimi; E d = extensor digitorum; E cr = extensor carpi radialis; Br R = brachioradialis; F pl = flexor pollicis longus; E pl = extensor pollicis longus. Ambulant (E) = ambulant early; Ambulant (L): ambulant late; Non ambulant (E) = non ambulant early; Non ambulant (L): non ambulant late.</p

PUL and patients age.

<p>Details of the PUL scores according to age.</p

T1-weighted axial MRI of the forearm.

<p>T1-weighted axial MRI of the forearm at the level of the radial tuberosity showing increased signal suggestive of fatty replacement in the forearm muscles, especially in the supinator (arrow) and pronator teres (arrowhead). The involvement is milder in the youngest ambulant patients aged 8 and 14 (a and b respectively) and more marked in the older non-ambulant ones, both aged 17 (c and d), with severe involvement shown in image d. R (radius); U (ulna).</p

Pul and MRI total scores.

<p>Details of the PUL and MRI total scores.</p

T1-weighted axial MRI of the arm.

<p>T1-weighted axial MRI of the arm at the mid-level of the humeral shaft (h) showing progressive increased signal suggestive of fatty replacement in the arm muscles. The involvement is milder in the youngest ambulant patients aged 5 and 11 (a and b respectively) and more marked in the older non-ambulant ones, both 17 years old (c and d) with severe involvement of all the muscles shown in image d.</p

Pul entry items and MRI total scores.

<p>Details of the PUL entry items and MRI total scores. The entry items range from score 0 –no useful hand function—to score 6 full shoulder abduction–no weakness.</p