Reliability of the motor learning strategy rating instrument for children and youth with acquired brain injury.

PURPOSE: To evaluate reliability and feasibility of the Motor Learning Strategy Rating Instrument (MLSRI) in children with acquired brain injury (ABI). The MLSRI quantifies the extent to which motor learning strategies (MLS) are used within physiotherapy (PT) interventions. METHODS: PT sessions conducted by ABI team physiotherapists with a convenience sample of children with ABI (4-18 years) were videotaped and independently scored later by two raters trained in MLSRI use. Intraclass correlation coefficients (ICCs) and 95% confidence intervals (CIs) estimated intra- and inter-rater reliability. RESULTS: Eighteen PT sessions were evaluated. Intra- and inter-rater reliability ICCs for total score were 0.86 (95% CI: 0.66-0.94) and 0.50 (95% CI: 0.08-0.78), respectively. MLSRI category ICCs were 0.56-0.86 (intra-rater) and 0.16-0.84 (inter-rater). CONCLUSIONS: Intra-rater reliability of MSLRI total score was excellent. Moderate inter-rater reliability may partially be due to inconsistent item interpretation between raters. Revisions and further reliability testing are required before recommending the MLSRI for clinical and research use.

Itavastatin and resveratrol increase triosephosphate isomerase protein in a newly identified variant of TPI deficiency.

Triosephosphate isomerase (TPI) deficiency (TPI Df) is an untreatable glycolytic enzymopathy that results in hemolytic anemia, progressive muscular impairment and irreversible brain damage. Although there is a 'common' mutation (TPIE105D), other pathogenic mutations have been described. We identified patients who were compound heterozygous for a newly described mutation, TPIQ181P, and the common TPIE105D mutation. Intriguingly, these patients lacked neuropathy or cognitive impairment. We then initiated biochemical and structural studies of TPIQ181P. Surprisingly, we found that purified TPIQ181P protein had markedly impaired catalytic properties whereas crystallographic studies demonstrated that the TPIQ181P mutation resulted in a highly disordered catalytic lid. We propose that genetic complementation occurs between the two alleles, one with little activity (TPIQ181P) and one with low stability (TPIE105D). Consistent with this, TPIQ181P/E105D fibroblasts exhibit a significant reduction in the TPI protein. These data suggest that impaired stability, and not catalytic activity, is a better predictor of TPI Df severity. Lastly, we tested two recently discovered chemical modulators of mutant TPI stability, itavastatin and resveratrol, and observed a significant increase in TPI in TPIQ181P/E105D patient cells.