IntroductionNusinersen is used in spinal muscular atrophy (SMA) to improve peripheral muscle function; however, respiratory effects are largely unknown.AimTo assess the effects of nusinersen on respiratory function in paediatric SMA during first year of treatment.MethodsA prospective observational study in paediatric patients with SMA who began receiving nusinersen in Queensland, Australia, from June 2018 to December 2019. Outcomes assessed were the age-appropriate respiratory investigations: spirometry, oscillometry, sniff nasal inspiratory pressure, mean inspiratory pressure, mean expiratory pressure, lung clearance index, as well as polysomnography (PSG) and muscle function testing. Lung function was collected retrospectively for up to 2 years prior to nusinersen initiation. Change in lung function was assessed using mixed effects linear regression models, while PSG and muscle function were compared using the Wilcoxon signed-rank test.ResultsTwenty-eight patients (15 male, aged 0.08–18.58 years) were enrolled: type 1 (n=7); type 2 (n=12); type 3 (n=9). The annual rate of decline in FVC z-score prior to nusinersen initiation was −0.58 (95% CI −0.75 to −0.41), and post initiation was −0.25 (95% CI −0.46 to −0.03), with a significant difference in rate of decline (0.33 (95% CI 0.02 to 0.66) (p=0.04)). Most lung function measures were largely unchanged in the year post nusinersen initiation. The total Apnoea–Hypopnoea Index (AHI) was reduced from a median of 5.5 events/hour (IQR 2.1–10.1) at initiation to 2.7 events/hour (IQR 0.7–5.3) after 1 year (p=0.02). All SMA type 1% and 75% of SMA types 2 and 3 had pre-defined peripheral muscle response to nusinersen.ConclusionThe first year of nusinersen treatment saw reduced lung function decline (especially in type 2) and improvement in AHI.

BackgroundSpinal muscular atrophy (SMA) causes progressive respiratory muscle weakness but respiratory function (RF) in those using noninvasive ventilation (NIV) is not well described.ObjectiveTo describe RF in childhood SMA and assess differences between those using and not using NIV.MethodsA cross‐sectional study of childhood SMA assessed polysomnography (PSG), spirometry, forced oscillation technique (FOT), lung clearance index (LCI), sniff nasal inspiratory pressures, peak cough flow, maximal inspiratory and expiratory pressure, and NIV use and indication.ResultsTwenty‐five children (median age [interquartile range], 8.96 [5.63] years; 10 F) with SMA 1 (n = 3), 2 (n = 15), and 3 (n = 7) were recruited. Spirometry and FOT testing was feasible in children as young as 3 years. Ten (40%) required NIV, 5 for sleep‐disordered breathing (SDB), and 5 initiated during lower respiratory tract infection (LRTI). Children requiring NIV were older (median, 10.52 vs 5.67 years; P < .02) with more abnormal forced vital capacity (FVC) z‐score (−5.70 vs −1.39, P < .02), Rsr8 z‐score (1.97 vs 0.50, P = .04), and LCI (8.84 vs 7.34, P = .01). Two had normal RF and SDB. For FVC z‐score less than −2.5 and LCI greater than 7.5, the odds ratio for NIV was 10.70 (95% confidence interval [CI], 1.39‐82.03) and 2 (95% CI, 0.40‐10.31), respectively. All children with LCI greater than 8 used NIV. FVC z‐score and LCI are associated with maximum transcutaneous carbon dioxide on PSG (r = 0.43, P < .001).ConclusionNIV is common in SMA. Normal RF does not exclude SDB. Children with more abnormal FVC and LCI should be considered at risk of starting NIV during/following an LRTI.

genital spinal anomalies.8-'4 The purpose of this paper is to report on a consecutive series of 49 children treated by IC since the policy was introduced with reference to the measurement of intravesical pressure/volume relationships and urethral closing pressures, the effect of pharmacological agents on the neuropathic bladder, urographic changes after 12 months' treatment, the management of bacteriuria, and the control of incontinence. PatientsThe spinal cord lesions which caused the incontinence were congenital (spina bifida) in 48 and traumatic in one.Age and sex. There were 22 boys and 27 girls. The majority were aged between 5 and 16 years when treatment with IC was started. Some would undoubtedly have started treatment earlier had the method been available. Perhaps the best time to start treatment is just before the child starts school, although much depends on the willingness of the child and his parents to accept the method, and on the state of the child's upper urinary tract. The latter factor led to the decision to start treatment in one infant who had urinary retention, infection, upper urinary tract dilatation, and renal failure.Paralysis. Twenty-seven children, of whom 15 were boys, had complete bilateral lower limb paralysis and had been confined to wheelchairs for most of their lives. These boys had hitherto used penile urinals but as they became older their obesity and spinal deformities increased to the point when their urinals were ineffective. Paralysis in the remaining children was less extensive so that they were able to walk, although most of them had orthopaedic appliances.Radiology and renal function. Intravenous urography and cystography were performed in all children before starting IC. The upper urinary tracts were 253 on 9 May 2018 by guest. Protected by copyright.

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Many clinics still have a 'no news is good news' (NNIGN) policy for clinic results. We asked our service users their preferences for obtaining results. We also designed a new clinic results service. Patients were invited to complete a service evaluation questionnaire. They were given nine options for obtaining results and asked to rate acceptability on a 1-9 scale (unacceptable to acceptable). Completed questionnaires were compared with the actual method they chose to obtain results for that visit. In all, 1000 questionnaires (561 females, 439 males) were completed. Average acceptability score was highest for mobile phone (7.7), followed by text (5.8) and letter (5.7). NNIGN (3.7) and returning for results (3.6) received the least popular ratings. When compared with the actual method chosen, mobile phone was the most popular (62%) followed by letter (17%). Only 10% of patients found NNIGN acceptable. Following the evaluation we purchased texting software and redesigned our results service. There are now four options for receiving results - texting, letter, patient telephones us and NNIGN. We believe we have been able to satisfy both patients' needs and their wishes by redesigning our service around their views.