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Disease-related mutations in the mitochondrial methionyl-tRNA formyltransferase (MTFMT) gene encoding a critical enzyme for mitochondrial translation have been rarely reported and are described in association with Leigh syndrome and combined oxidative phosphorylation deficiency. Symptoms include developmental delay, followed by ataxia and spasticity manifesting at later stages. A man had a clinical picture suggestive of an acquired demyelinating disease. Brain magnetic resonance imaging (MRI) demonstrated extensive involvement of the optic nerves, cerebral white matter, brain stem, and spinal cord. Whole-exome sequencing detected a pathologic homozygous c.626C>T mutation in the MTFMT gene. These findings expand the clinical features and neuroimaging spectrum associated with MTFMT mutations to include a relapsing-remitting phenotype. [ABSTRACT FROM AUTHOR]

Tremendous advances in neuroimaging methods and analytic techniques hold great promise in providing the rehabilitation clinician with a much greater understanding of brain pathology and its potential influence on rehabilitation outcome. This special issues of NeuroRehabilitation overviews the field. Contemporary neuroimaging methods are reviewed specifically in traumatic brain injury (TBI), anoxic brain injury (ABI) and stroke. Innovative methods combined with standard quantitative metrics and traditional clinical assessment provide the rehabilitation clinician with multiple methods to best understand the nature and extent on underlying neuropathology and how to use this information in guiding rehabilitation therapies and predicting outcome. [ABSTRACT FROM AUTHOR]

Primary objective: To examine initial Glasgow Coma Scale (GCS) score and its relationship with later cerebral atrophy in children with traumatic brain injury (TBI) using Quantitative Magnetic Resonance Imaging (QMRI) at 4 months post-injury. It was hypothesized that a lower GCS score would predict later generalized atrophy. As a guide in assessing paediatric TBI patients, the probability of developing chronic cerebral atrophy was determined based on the initial GCS score. Methods and procedures: The probability model used data from 45 paediatric patients (mean age = 13.6) with mild-to-severe TBI and 41 paediatric (mean age = 12.4) orthopaedically-injured children. Results: This study found a 24% increase in the odds of developing an abnormal ventricle-to-brain ratio (VBR) and a 27% increase in the odds of developing reduced white matter percentage on neuroimaging with each numerical drop in GCS score. Logistic regression models with cut-offs determined by normative QMRI data confirmed that a lower initial GCS score predicts later atrophy. Conclusion: GCS is a commonly used measure of injury severity. It has proven to be a prognostic indicator of cognitive recovery and functional outcome and is also predictive of later parenchymal change. [ABSTRACT FROM AUTHOR]

Objective: To investigate the relation of white matter integrity using diffusion tensor imaging (DTI) to cognitive and functional outcome of moderate to severe traumatic brain injury (TBI) in children. Design: Prospective observational study of children who had sustained moderate to severe TBI and a comparison group of children who had sustained orthopedic injury (OI). Participants: Thirty-two children who had sustained moderate to severe TBI and 36 children with OI were studied. Methods: Fiber tracking analysis of DTI acquired at 3-month postinjury and assessment of global outcome and cognitive function within 2 weeks of brain imaging. Global outcome was assessed using the Glasgow Outcome Scale and the Flanker task was used to measure cognitive processing speed and resistance to interference. Results: Fractional anisotropy and apparent diffusion coefficient values differentiated the groups and both cognitive and functional outcome measures were related to the DTI findings. Dissociations were present wherein the relation of Fractional anisotropy to cognitive performance differed between the TBI and OI groups. A DTI composite measure of white matter integrity was related to global outcome in the children with TBI. Conclusions: DTI is sensitive to white matter injury at 3 months following moderate to severe TBI in children, including brain regions that appear normal on conventional magnetic resonance imaging. DTI measures reflecting diffusion of water parallel and perpendicular to white matter tracts as calculated by fiber tracking analysis are related to global outcome, cognitive processing speed, and speed of resolving interference in children with moderate to severe TBI. Longitudinal data are needed to determine whether these relations between DTI and neurobehavioral outcome of TBI in children persist at longer follow-up intervals. [ABSTRACT FROM AUTHOR]

Summary. The risk of stroke in sickle cell disease (SCD) may be influenced by either genetic or environmental factors. Elevated blood flow velocity in the large cerebral arteries, detected by transcranial Doppler (TCD) ultrasonography, predicts an increased stroke risk in children with SCD. We undertook this study to investigate the possibility of a familial predisposition to elevated cerebral blood flow velocity, a surrogate marker for stroke risk. We analysed the results of TCD studies performed on 63 children from 29 families that had more than one child with SCD. We assessed the association of elevated cerebral blood flow velocity with sibling TCD results as well as age and haemoglobin level, which are factors known to affect cerebral blood flow velocity. Positive or negative TCD results were highly correlated between family members (r = 0·61). The presence of a sibling with a positive TCD result was significantly associated with an elevated cerebral blood flow velocity in other siblings with SCD (odds ratio = 50·7, 95% confidence interval 10·1–253·7, P < 0·001). Furthermore, children who had a sibling with a positive TCD result had a significantly higher TCD velocity than children with SCD but without a sibling who were matched for age, sex, genotype and haemoglobin level. Our results are consistent with a familial predisposition to cerebral vasculopathy in SCD. [ABSTRACT FROM AUTHOR]

Comments on the importance of the No Child Left Behind Act which is regarded as the most significant federal education policy initiative in a generation in the United States. Aim to ensure that each child is able to meet the high learning standards set forth by the state in which he or she lives; Importance of teacher quality on student performance; Reform of teacher preparation and licensure requirements to ensure that they are performance-based.

Abstract: Neural correlates of working memory (WM) based on the Sternberg Item Recognition Task (SIRT) were assessed in 40 children with moderate-to-severe traumatic brain injury (TBI) compared to 41 demographically-comparable children with orthopedic injury (OI). Multiple magnetic resonance imaging (MRI) methods assessed structural and functional brain correlates of WM, including volumetric and cortical thickness measures on all children; functional MRI (fMRI) and diffusion tensor imaging (DTI) were performed on a subset of children. Confirming previous findings, children with TBI had decreased cortical thickness and volume as compared to the OI group. Although the findings did not confirm the predicted relation of decreased frontal lobe cortical thickness and volume to SIRT performance, left parietal volume was negatively related to reaction time (RT). In contrast, cortical thickness was positively related to SIRT accuracy and RT in the OI group, particularly in aspects of the frontal and parietal lobes, but these relationships were less robust in the TBI group. We attribute these findings to disrupted fronto-parietal functioning in attention and WM. fMRI results from a subsample demonstrated fronto-temporal activation in the OI group, and parietal activation in the TBI group, and DTI findings reflected multiple differences in white matter tracts that engage fronto-parietal networks. Diminished white matter integrity of the frontal lobes and cingulum bundle as measured by DTI was associated with longer RT on the SIRT. Across modalities, the cingulate emerged as a common structure related to performance after TBI. These results are discussed in terms of how different imaging modalities tap different types of pathologic correlates of brain injury and their relationship with WM. [Copyright &y& Elsevier]