RESUMEN
PURPOSE: The aim of this study was to investigate whether the consequences of neurologic lesions are underestimated when the Barthel Index (BI) is used to assess the clinical outcome of botulinum toxin injection. PATIENTS AND METHODS: The records for all in- and outpatients with various neurologic lesions (stroke, multiple sclerosis, spinal cord injury, traumatic brain injury, and so forth) who had been referred to the authors' departments and who had received botulinum toxin type A (Botox(®)) for spasticity within a 4-year period (2008-2011) were examined retrospectively. BI data were collected and analyzed. RESULTS: The BI score was found to have increased in follow-up assessments (P = 0.048). No correlation was found between the degree of spasticity and the BI score. CONCLUSION: The specific injection of Botox in patients with neurologic lesions was not strongly correlated with a significant functional outcome according to the BI. The results of this study suggest that clinicians need to look at other measurement scales for the assessment of significant outcomes of Botox in the rehabilitation process after neurologic lesions.
RESUMEN
Autism and autism-spectrum disorders exhibit high heritability, although specific susceptibility genes still remain largely elusive. We performed a heterogeneity-based genome search meta-analysis (HEGESMA) of nine genome scans on autism or autism-spectrum disorders. Each genome scan was separated in 30 cM bins and the maximum linkage statistic from each bin was ranked. Significance for each bin's average rank and for between-scan heterogeneity (dis-similarity in the average ranks) was obtained through Monte Carlo tests. For autism, data from 771 affected sibpairs were synthesized across six separate genome scans. Region 7q22-q32 reached genome-wide significance both in weighted and unweighted analyses, with evidence for significantly low between-scan heterogeneity. The flanking chromosomal region 7q32-qter reached the less stringent threshold of suggestive significance, with no evidence for low between-scan heterogeneity. For autism-spectrum disorders (634 affected sibpairs from five separate scans), no chromosomal region reached genome-wide significance. However, suggestive significance was reached for the chromosomal regions 17p11.2-q12 and 10p12-q11.1 in weighted analyses. There was evidence for significantly high between-scan heterogeneity for the former region. The meta-analysis suggests that the 7q22-q32 region should be further scrutinized for autism susceptibility genes, while autism-spectrum disorders seem to have quite diverse linkage signals across scans, possibly suggesting genetic heterogeneity across subsyndromes and subpopulations.