BACKGROUNDSpinal muscular atrophy is an autosomal recessive neuromuscular disorder that is caused by an insufficient level of survival motor neuron (SMN) protein. Nusinersen is an antisense oligonucleotide drug that modifies pre-messenger RNA splicing of the SMN2 gene and thus promotes increased production of full-length SMN protein. METHODSWe conducted a randomized, double-blind, sham-controlled, phase 3 efficacy and safety trial of nusinersen in infants with spinal muscular atrophy. The primary end points were a motor-milestone response (defined according to results on the Hammersmith Infant Neurological Examination) and event-free survival (time to death or the use of permanent assisted ventilation). Secondary end points included overall survival and subgroup analyses of event-free survival according to disease duration at screening. Only the first primary end point was tested in a prespecified interim analysis. To control the overall type I error rate at 0.05, a hierarchical testing strategy was used for the second primary end point and the secondary end points in the final analysis. RESULTSIn the interim analysis, a significantly higher percentage of infants in the nusinersen group than in the control group had a motor-milestone response (21 of 51 infants [41%] vs. 0 of 27 [0%], P<0.001), and this result prompted early termination of the trial. In the final analysis, a significantly higher percentage of infants in the nusinersen group than in the control group had a motor-milestone response (37 of 73 infants [51%] vs. 0 of 37 [0%]), and the likelihood of event-free survival was higher in the nusinersen group than in the control group (hazard ratio for death or the use of permanent assisted ventilation, 0.53; P = 0.005). The likelihood of overall survival was higher in the nusinersen group than in the control group (hazard ratio for death, 0.37; P = 0.004), and infants with a shorter disease duration at screening were more likely than those with a longer disease duration to benefit from nusinersen. The incidence and severity of adverse events were similar in the two groups. CONCLUSIONSAmong infants with spinal muscular atrophy, those who received nusinersen were more likely to be alive and have improvements in motor function than those in the control group. Early treatment may be necessary to maximize the benefit of the drug. (Funded by Biogen and Ionis Pharmaceuticals; ENDEAR ClinicalTrials.gov number, NCT02193074.)

Background Alterations in sensory processing, such as vision, taste, and interoceptive sensation, have been reported in adult anorexia nervosa (AN). Whether these symptoms are traits, states, or “scars” due to chronic starvation has not been fully established. Based on the hypothesis that alterations in sensory processing also occur in adolescent AN in the early stages of the disease, the present study was conducted using both self-administered and parent-administered sensory processing questionnaires. Methods Children and adolescents with anorexia nervosa treated at a single tertiary eating disorder treatment center in Japan (AN group) and female junior high school students attending a public junior high school in Saitama Prefecture, Japan (healthy control group: HC group) were included in the study. The Sensory Profile (SP) and Adult/Adolescent Sensory Profile (AASP) were administered to the participants and their caregivers. In addition, we collected demographic data and administered the Children’s Eating Attitude Test and Autism-Spectrum Quotient Children’s version. Results Seventeen children and adolescents were enrolled in the AN group, and 63 were enrolled in the HC group. There was no statistically significant difference between the AN and HC groups in the quadrant scores of the AASP. In the SP, the Sensory Avoiding score and the Emotional/Social response score were higher in the AN group than in the HC group. Conclusion From the parents’ point of view, the patient avoids unexpected sensory stimuli, but the patients are unaware of their own avoiding behavior in the early stages of the disease. The results suggest that sensory sensitivity in AN may be a “scar” symptom due to chronic starvation and a state symptom. Longitudinal studies from shortly after the onset with larger sample sizes are needed to gain insight into the dynamic relation between sensory processing and eating disorder pathology.

BackgroundAlterations in sensory processing, such as vision, taste, and interoceptive sensation, have been reported in adult anorexia nervosa (AN). Whether these symptoms are traits, states, or “scars” due to starvation has not been fully established. Based on the hypothesis that alterations in sensory processing also occur in adolescent AN in the early stages of the disease, the present study was conducted using both self-administered and parent-administered sensory processing questionnaires.MethodsChildren and adolescents with anorexia nervosa treated at a single tertiary eating disorder treatment center in Japan (AN group) and female junior high school students attending a public junior high school in Saitama Prefecture, Japan (healthy control group: HC group) were included in the study. The Sensory Profile (SP) and Adult/Adolescent Sensory Profile (AASP) were administered to the participants and their caregivers. In addition, we collected demographic data and administered the Children's Eating Attitude Test and Autism-Spectrum Quotient Children's version.ResultsSeventeen children and adolescents were enrolled in the AN group, and 63 were enrolled in the HC group. There was no statistically significant difference between the AN and HC groups in the quadrant scores of the AASP. In the SP, the Sensory Avoidance score and the Emotional/Social response score were higher in the AN group than in the HC group.ConclusionsAlthough this study was conducted at only a single center in Japan, the results suggest that sensory processing characteristics may differ from trait symptoms. Longitudinal studies and larger-scale studies with patients in the early stages of the disease are needed.