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.)

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The purpose of this study was to investigate the changes in balance and qualitative and quantitative jumping performances by 20 children with Down syndrome (3 to 6 years) on jumping lessons. 30 typical children ages 3 to 6 years were recruited as a comparison group. Before the jumping lesson, a pretest was given subjects for balance and jumping skill measures based on the Motor Proficiency and Motor Skill Inventory, respectively. Subjects with Down syndrome received 3 sessions on jumping per week for 6 weeks but not the typical children. Then, a posttest was administered to all subjects. Analysis of covariance showed the pre- and posttest differences on scores for floor walk, beam walk, and horizontal and vertical jumping by subjects with Down syndrome were significantly greater than those for the typical children.

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The purpose of this study was to examine the psychometric properties of the Chinese version of Cerebral Palsy Quality of Life for Children (CP QOL-Child) questionnaire. We performed forward (into Chinese) and backward translation of the CP QOL-Child for: (1) the primary caregiver form (for parents of children with CP aged 4-12 years); and (2) the child self-report form (for children with cerebral palsy aged 9-12 years). Psychometric properties assessed included test-retest reliability, internal consistency, item discrimination, construct validity, and concordance between the forms of questionnaire. The Chinese CP QOL-Child was completed by 145 caregivers and 44 children. Excellent test-retest reliability and internal consistency were obtained. Item discrimination analysis revealed a majority of the items have moderate to good discriminating power. Confirmatory factor analysis demonstrated distinguishable domain structure as on the original English version. Significant associations were found between lower QOL and more severe motor disability. Consistent with the English version, the highest correlation between the primary caregiver and child forms on QOL was in the domain of functioning. Results of this study indicate that the Chinese CP QOL-Child appears to be valid for use in Mandarin-Chinese speaking children with cerebral palsy.

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