ObjectiveTo investigate the natural course of scoliosis and to estimate lifetime probability of scoliosis surgery in spinal muscular atrophy (SMA).MethodsWe analyzed cross-sectional data from 283 patients from our population-based cohort study. Additional longitudinal data on scoliosis progression and spinal surgery were collected from 36 consecutive patients who received scoliosis surgery at our center.ResultsThe lifetime probability of receiving scoliosis surgery was ≈80% in SMA types 1c and 2. Patients with type 2 who only learned to sit (type 2a) were significantly younger at time of surgery than those who learned to sit and stand (type 2b). The lifetime risk of surgery was lower in type 3a (40%) and strongly associated with age at loss of ambulation: 71% in patients losing ambulation before 10 years of age vs 22% losing ambulation after the age of 10 years (p = 0.005). In type 3a, preserving the ability to walk 1 year longer corresponded to a 15% decrease in lifetime risk of scoliosis surgery (hazard ratio 0.852, p = 0.017). Scoliosis development was characterized by initial slow progression, followed by acceleration in the 1.5- to 2-year period before surgery.ConclusionThe lifetime probability of scoliosis surgery is high in SMA types 1c and 2 and depends on age at loss of ambulation in type 3. Motor milestones such as standing that are not part of the standard classification system are of additional predictive value. Our data may act as a reference to assess long-term effects of new SMA-specific therapies.

IntroductionEnd-of-life decisions after stroke should be guided by accurate estimates of the patient’s prognosis. We assessed the accuracy of physicians’ estimates regarding mortality, functional outcome, and quality of life in patients with severe stroke.MethodsTreating physicians predicted mortality, functional outcome (modified Rankin scale (mRS)), and quality of life (visual analogue scale (VAS)) at six months in patients with major disabling stroke who had a Barthel Index ≤6 (of 20) at day four. Unfavorable functional outcome was defined as mRS >3, non-satisfactory quality of life as VAS <60. Patients were followed-up at six months after stroke. We compared physicians’ estimates with actual outcomes.ResultsSixty patients were included, with a mean age of 72 years. Of fifteen patients who were predicted to die, one actually survived at six months (positive predictive value (PPV), 0.93; 95% CI, 0.66–0.99). Of thirty patients who survived, one was predicted to die (false positive rate (FPR), 0.03; 95%CI 0.00–0.20). Of forty-six patients who were predicted to have an unfavorable outcome, four had a favorable outcome (PPV, 0.93; 95% CI, 0.81–0.98; FPR, 0.30; 95% CI; 0.08–0.65). Prediction of non-satisfactory quality of life was less accurate (PPV, 0.63; 95% CI, 0.26–0.90; FPR, 0.18; 95% CI 0.05–0.44).ConclusionsIn patients with severe stroke, treating physicians’ estimation of the risk of mortality or unfavorable functional outcome at six months is relatively inaccurate. Prediction of quality of life is even more imprecise.

BackgroundPatients with severe stroke often do not have the capacity to participate in discussions on treatment restrictions because of a reduced level of consciousness, aphasia, or another cognitive disorder. We assessed the role of advance directives and proxy opinions in the decision-making process of incapacitated patients.MethodsSixty patients with severe functional dependence (Barthel Index ≤6) at day four after ischemic stroke or intracerebral hemorrhage were included in a prospective two-center cohort study. The decision-making process with respect to treatment restrictions was assessed by means of a semi-structured questionnaire administered to the treating physician at the day of inclusion.ResultsForty-nine patients (82%) did not have the capacity to participate in the decision-making process. In eight patients, there was no discussion on treatment restrictions and full care was installed. In 41 patients, the decision whether to install treatment restrictions was discussed with proxies. One patient had a written advance directive. In the remaining 40 patients, proxies based their opinion on previously expressed wishes of the patient (18 patients) or advised in the best interest of the patient (22 patients). In 36 of 41 patients, treatment restrictions were installed after agreement between physician and proxy. At six months, 23 of 49 patients had survived. In only three of them the decision on treatment restrictions was based on previously expressed wishes. Remarkably, two of these survivors could not recall any of their alleged previously expressed wishes.ConclusionsTreatment restrictions were installed in the majority of incapacitated patients after stroke. Proxy opinions frequently served as the best way to respect the patients’ autonomy, but their accuracy remains unclear.Electronic supplementary materialThe online version of this article (10.1186/s12904-017-0234-8) contains supplementary material, which is available to authorized users.

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