Background and purposeThe purpose was to report the results of ultrasound‐guided lumbar puncture for the administration of nusinersen in spinal muscular atrophy (SMA) patients with complex spines.MethodsEighteen SMA patients (five children, five adolescents and eight adults) with either severe scoliosis or spondylodesis were evaluated for ultrasound‐guided lumbar puncture. Ultrasound was performed with a 3.5 MHz transducer to guide a 22 gauge × 15 mm needle, which was placed in the posterior lumbar space following a parasagittal interlaminar approach.ResultsTwelve patients had undergone spinal instrumentation (nine growing rods and three spinal fusion) whilst the other six showed severe scoliosis. Success was achieved in 91/94 attempts (96.8%), in 14/18 patients (77.8%), including 100% of children and adolescents and 50% of adult patients. In two of the unsuccessfully treated patients, computed tomography and fluoroscopy‐guided transforaminal lumbar punctures were also tried without success. After a median follow‐up of 14 months, only few adverse events, mostly mild, were observed.ConclusionThe ultrasound‐guided lumbar puncture, following an interlaminar parasagittal approach, is a safe and effective approach for intrathecal treatment with nusinersen in children, adolescents and carefully selected adult SMA patients with complex spines and could be considered the first option in them.

Introduction/Aims Risdiplam has been approved for the treatment of patients with 5q spinal muscular atrophy (SMA), but data from type 2 non‐sitter patients are lacking. In this study we describe our experience regarding the use of risdiplam in a series of type 2 non‐sitter patients. Methods Type 2 SMA patients over 16 years of age were administered risdiplam through the expanded access program (NCT04256265). Patients were followed‐up with a battery of scales and clinical measures. Results Six non‐sitter patients (17 to 46 years old) were treated with risdiplam. One patient reported mild adverse events (dyspepsia and headache). After 1 year of treatment, all patients showed clinically meaningful improvements in at least one scale and none of them showed any clinically meaningful deterioration. Two patients showed a clinically meaningful increase in body mass index (>5%) and two others scored higher on the Revised Upper Limb Module (>2 points). Moreover, five patients had clinically meaningful improvements on the Egen Klassifikation 2 scale (>2 points), including the motor (axial and upper limbs), bulbar (speech and swallowing), and respiratory (coughing) domains. Four subjects achieved at least one of the goals set with the Goal Attainment Scale (GAS). Discussion This series suggests that risdiplam is safe and may be effective in non‐sitter SMA patients older than 16 years of age. In these patients, functional scales and the GAS would be more sensitive than motor scales to detect changes, because they include axial, bulbar, and respiratory domains. Larger studies are needed to confirm these results.

Background and purpose Mos scales currently used to evaluate spinal muscular atrophy (SMA) patients have only been validated in children. The aim of this study was to assess the construct validity and responsiveness of several outcome measures in adult SMA patients. Methods Patients older than 15 years and followed up in five referral centres for at least 6 months, between October 2015 and August 2020, with a motor function scale score (Hammersmith Functional Motor Scale Expanded [HFMSE], Revised Upper Limb module [RULM]) were included. Bedside functional scales (Egen Klassification [EK2], Revised Amyotrophic Lateral Sclerosis Functional Rating Scale [ALSFRS‐R]) were also collected when available. Spearman's rho correlations (rs) and Bangdiwala's concordance test (B) were used to evaluate the scales' construct validity. Monthly slopes of change were used to calculate their responsiveness of the scales. Results The study included 79 SMA patients, followed up for a mean of 16 months. All scales showed strong correlations with each other (rs > 0.70). A floor effect in motor function scales was found in the weakest patients (HFMSE < 5 and RULM < 10), and a ceiling effect was found in stronger patients (HFMSE > 60 and RULM > 35). The ALSFRS‐R (B = 0.72) showed a strong ability to discriminate between walkers, sitters and non‐sitters, and the HFMSE (B = 0.86) between walkers and sitters. The responsiveness was low overall, although in treated patients a moderate responsiveness was found for the ALSFRS‐R and HFMSE in walkers (0.69 and 0.61, respectively) and for EK2 in sitters (0.65) and non‐sitters (0.60). Conclusions This study shows the validity and limitations of the scales most frequently used to assess adult SMA patients. Overall, bedside functional scales showed some advantages over motor scales, although all showed limited responsiveness.