Shobini L. Rao

Cognitive development in children with chronic protein energy malnutrition

BackgroundMalnutrition is associated with both structural and functional pathology of the brain. A wide range of cognitive deficits has been reported in malnourished children. Effect of chronic protein energy malnutrition (PEM) causing stunting and wasting in children could also affect the ongoing development of higher cognitive processes during childhood (>5 years of age). The present study examined the effect of stunted growth on the rate of development of cognitive processes using neuropsychological measures.MethodsTwenty children identified as malnourished and twenty as adequately nourished in the age groups of 5–7 years and 8–10 years were examined. NIMHANS neuropsychological battery for children sensitive to the effects of brain dysfunction and age related improvement was employed. The battery consisted of tests of motor speed, attention, visuospatial ability, executive functions, comprehension and learning and memoryResultsDevelopment of cognitive processes appeared to be governed by both age and nutritional status. Malnourished children performed poor on tests of attention, working memory, learning and memory and visuospatial ability except on the test of motor speed and coordination. Age related improvement was not observed on tests of design fluency, working memory, visual construction, learning and memory in malnourished children. However, age related improvement was observed on tests of attention, visual perception, and verbal comprehension in malnourished children even though the performance was deficient as compared to the performance level of adequately nourished children.ConclusionChronic protein energy malnutrition (stunting) affects the ongoing development of higher cognitive processes during childhood years rather than merely showing a generalized cognitive impairment. Stunting could result in slowing in the age related improvement in certain and not all higher order cognitive processes and may also result in long lasting cognitive impairments.

Acute idiopathic axonal neuropathy (AIAN): a clinical and electrophysiological observation

Twenty patients (M:F 15:5) with electrophysiological evidence of predominant axonal lesion and fulfilling clinical criteria for Guillain Barré Syndrome were observed during a period of 6 years (1985–1990). Their mean age was 27.5 years (range 5–55). Seven patients had antecedent febrile illness. Peak motor deficit was reached at a mean period of 6.5 days (range 2–21 days). All the patients had distal muscle weakness out of proportion to proximal muscle weakness. Facial paresis (13 patients), bulbar palsy (2), respiratory failure (1), sensory deficits (7) and dysautonomia (1) were other salient features. CSF analysis revealed albuminocytological dissociation in 12 patients. One patient died and in the remaining patients the recovery was delayed and incomplete. Presence of predominant distal muscle wasting and weakness, low amplitude CMAP or inexcitable nerves, absence of conduction block or significant temporal dispersion, normal or only slightly reduced conduction velocity and evidence of poor recovery suggest that the primary pathology in these patients may be axonal degeneration. These cases may represent a distinct entity and need to be differentiated from the more commonly observed acute idiopathic demyelinating neuropathy.

Neurosyphilis: MRI features and their phenotypic correlation in a cohort of 35 patients from a tertiary care university hospital

IntroductionThe clinical and MR imaging features of neurosyphilis are highly varied. In this study, we describe the spectrum of the imaging findings in patients with neurosyphilis.MethodsThe MR imaging observations of 35 patients diagnosed to have neurosyphilis on the basis of cerebrospinal fluid reactive for the Venereal Disease Research Laboratory test were reviewed.ResultsAll the 35 patients, including four with human immunodeficiency virus coinfection, met the CDC diagnostic criteria for neurosyphilis. Patients were classified into three groups: (1) neuropsychiatric, (2) meningovascular, and (3) myelopathic, based on the dominant clinical manifestations. Fourteen patients with neuropsychiatric manifestations showed diffuse cerebral atrophy (14), parenchymal signal changes in the mesial temporal region (2) and temporal and basifrontal regions (1), infarcts (3), and nonspecific white matter changes (3). Eleven patients with meningovascular form showed infarcts (6), diffuse cerebral atrophy (3), signal changes in the mesial temporal region (3), sulcal exudates (1), progressive multifocal leukoencephalopathy (1), and a mass surrounding the carotid sheath (1). Spine imaging in ten patients with myelopathy showed long-segment signal changes (5), contrast enhancement (2), and dorsal column involvement (2). Three of these patients had normal spinal study. Six patients in the myelopathic group also underwent brain MRI that showed signal changes in the temporal region (2) and frontal region (1), multiple infarcts (1), and enhancing hypothalami (1). Three patients had normal study.ConclusionMRI abnormalities in neurosyphilis are protean and mimic of many other neurological disorders and thus require a high index of suspicion to reduce diagnostic omissions.

Apolipoprotein E polymorphism and outcome after mild to moderate traumatic brain injury: A study of patient population in India

BACKGROUND The nature and extent of recovery after traumatic brain injury (TBI) is heterogeneous. Apolipoprotein E (APOE) plays a major role in repair of cell membrane and growth of neurites following injury to cells. Studies done on the western population have shown that the APOE e4 genotype is associated with poor survival following neurotrauma. AIM To explore the association of APOE polymorphism and outcome following TBI in a patient population from a tertiary care hospital exclusive for neurological diseases in south India. PATIENTS AND METHODS Ninety eight patients who sustained mild to moderate TBI (computed tomography (CT) scan brain showing traumatic parenchymal contusions) were the subjects of the study and the study period was from November 2003 to December 2008. APOE polymorphism status was determined by PCR technique using venous blood. Patients were assessed on follow-up with a battery of four neuropsychological tests as well as Glasgow outcome scale. RESULTS Of the 98 patients, 20 (20%) patients had at least one APOE e4 allele. A follow-up of minimum six months was available for 73 patients. None of the 12 patients who had at least one APOE e4 allele had a poor outcome at six-month follow-up whereas 11(18%) patients without an APOE e4 allele had a poor outcome (Fishers Exact test, P=0.192). On the neuropsychological tests, performance of patients with APOE e4 allele did not differ significantly from those without these alleles. CONCLUSION This study does not support the current contention that the presence of APOE e4 allele should have a significant negative effect on the outcome after TBI.

Disabilities in children with Duchenne muscular dystrophy: a profile.

Proper assessment of disabilities is essential for rehabilitation of patients with Duchenne muscular dystrophy. The aim of this study was to identify and quantify the disabilities in children with Duchenne muscular dystrophy and correlate them with impairment. Thirty-one patients with Duchenne muscular dystrophy of age four years and above were studied. The motor functions were evaluated using total motor score, upper and lower extremity function grades and timed function tests. Disability was quantified with Barthel index. The mean scores of motor scales were: total motor score -52 +/- 7.8, total functional grade -4.4 +/- 1.9 and timed function score -12.5 +/- 5.8. Barthel index scores ranged from 45-95 with a mean of 70.8 +/- 12.7. Motor scales correlated with each other and with Barthel index. Thirty children had disabilities in multiple spheres of life, which were significantly influenced by the motor power. Barthel index was useful in identifying and quantifying specific areas of disabilities in these children. Evaluation of disabilities using specific measures may be crucial for planning comprehensive management.

Addition of home-based cognitive retraining to treatment as usual in first episode schizophrenia patients: A randomized controlled study

Objective: We examined the effectiveness of a 2-month-long home-based cognitive retraining program together with treatment as usual (TAU; psychoeducation and drug therapy) on neuropsychological functions, psychopathology, and global functioning in patients with first episode schizophrenia (FES) as well as on psychological health and perception of level of family distress in their caregivers. Materials and Methods: Forty-five FES patients were randomly assigned to either treatment group receiving home-based cognitive retraining along with TAU (n=22) or to control group receiving TAU alone (n=23). Patients and caregivers received psychoeducation. Patients and one of their caregivers were assessed for the above parameters at baseline, post-assessment (2 months) and at 6-months follow-up assessment. Results: Of the 45 patients recruited, 12 in the treatment group and 11 in the control group completed post-intervention and follow-up assessments. Addition of home-based cognitive retraining along with TAU led to significant improvement in neuropsychological functions of divided attention, concept formation and set-shifting ability, and planning. Effect sizes were large, although the sample size was small. Conclusions: Home-based cognitive retraining program has shown promise. However, further studies examining this program on a larger cohort with rigorous design involving independent raters are suggested.

Cognitive profile and structural findings in Wilson's disease: A neuropsychological and MRI-based study

BACKGROUND Systematic studies on neuropsychological profile in patients with Wilsons disease (WD) are far and few. AIM To examine the profile of cognitive deficits and their magnetic resonance imaging (MRI) findings in patients with WD. PATIENTS AND METHODS Twelve confirmed patients of WD (age at onset and evaluation, 13.7±11.2 and 21.7±5.3 years, respectively; M-F ratio, 7:5) on de-coppering therapy constituted the study sample. Battery of neuropsychological tests measuring mental speed, motor speed, sustained attention, focused attention, verbal category fluency, verbal working memory, response inhibition, planning, concept formation, set-shifting ability, verbal and visual learning and memory were administered. Phenotypic details and observations on MRI of brain carried out within six months of neuropsychological assessment were documented. RESULTS Neuropsychological assessment elicited cognitive deficits in multiple domains in all but one patient, who had normal MRI. Percentage of patients in the deficit range in various domains included: motor speed: 73%; verbal working memory, sustained and focused attention: 50%; verbal learning: 42%; visuo-constructive ability, verbal memory, mental speed: 33%-34%; verbal fluency, set-shifting ability, visual memory, verbal memory: 25%-27%; and verbal recognition: 17%. MRI was normal in three patients, and revealed variable abnormalities in the remaining: cerebral atrophy in 3; brainstem atrophy in 2; signal changes in basal ganglia in 9; and brainstem signal changes in 5. None had subcortical white matter changes. Two patients with normal MRI showed cognitive deficits. CONCLUSION This study provides insight into the complex cognitive and brain changes observed on MRI in WD. Use of advanced MRI techniques in a larger cohort may improve understanding regarding functional and structural brain changes observed in similar disorders.

Reduced contribution of executive functions in impaired working memory performance in mild traumatic brain injury patients.

AIM Mild traumatic brain injury (MTBI) is associated with often selective impairment of both working memory (WM) and the executive functions (EFs). Research indicates that one of the commonest deficits present in MTBI patients falls in the domain of WM. We aimed to investigate the role of EFs in WM impairment following MTBI. METHODS Performance on the tests of EFs and the verbal and visuo-spatial WM of 30 consecutive MTBI patients were compared with age/education/IQ matched 30 normal healthy control participants. Correlation between EFs and WM was studied separately for the MTBI and the control group. RESULTS The MTBI and control group were tested on a range of EF tests and WM. The MTBI group was demonstrated impairment on verbal and visuo-spatial WM and category fluency tests only. Furthermore, the MTBI group had fewer significant correlations between the WM and EFs (5 out of 54 possible correlations) than in the control group (13 out of 54 possible correlations). CONCLUSIONS We suggest that MTBI may lead to WM deficits as the contribution of executive processes to support the WM is diminished following MTBI. Such an understanding of the poor WM performance in MTBI patients will be helpful when planning appropriate strategies for cognitive rehabilitation.

Post-concussion syndrome: Correlation of neuropsychological deficits, structural lesions on magnetic resonance imaging and symptoms.

BACKGROUND Post-concussion syndrome (PCS) associated with mild traumatic brain injury (MTBI) can cause long-lasting disabilities. Magnetic resonance imaging (MRI) evaluation in these patients may demonstrate structural lesions that correlate with functional deficits on neuropsychological testing. However, little is known about the significance of the relationship between structural lesions on MRI, functional deficits on neuropsychological evaluation and outcome in patients with MTBI. AIMS To assess neuropsychological deficits and structural lesions on MRI in patients with PCS following MTBI, and to find correlation between these findings and PCS. SETTINGS AND DESIGN Prospective, observational, cohort study in a tertiary hospital. MATERIALS AND METHODS The study cohort included consecutive patients with MTBI (three months or more duration) and PCS. All the patients in the cohort had neuropsychological testing using the National Institute of Mental Health and Neurological Sciences Neuropsychological Battery for head injury and also MRI using T1, T2 and FLAIR sequences. Statistical analysis was done using Fishers Exact test of significance. RESULTS All the 20 patients evaluated had neuropsychological deficits. Eleven patients had lesions on MRI. Disturbances of sleep, behavior and memory and abnormalities in tests for mental speed were more frequent in patients with lesions on MRI, but were not statically significant (P = 0.08). Both the test modalities localized lesions predominantly to the frontal and temporal lobes. All the symptoms observed in the patients were associated with prefrontal dysfunction on neuropsychological testing. CONCLUSIONS Prefrontal dysfunction is invariably associated with PCS following MTBI. Structural lesions on MRI may not always be present but when present may influence the degree or severity of the symptoms.

Diffusion Tensor Imaging (DTI) and its clinical correlates in drug naïve Wilson’s disease

The purpose is to evaluate white matter (WM) abnormalities in Wilson’s disease (WD) using the technique of diffusion tensor imaging (DTI). The prospective case–control study comprised of 15 drug-naïve patients with WD and 15 controls. The phenotype of subjects was evaluated. The DTI/conventional MRI was acquired (3T MRI): Fractional anisotropy (FA) and mean diffusivity (MD) values were extracted from regions of interest placed in pons, midbrain, bilateral frontal and occipital cerebral white matter, bilateral internal capsules (IC), middle cerebellar peduncles (MCP) and corpus callosum (CC). Six patients showed lobar WM signal changes on T2-Weighted (T2W)/Fluid attenuation inversion recovery (FLAIR) images while remaining had normal appearing WM. MD was significantly increased in the lobar WM, bilateral IC and midbrain of WD patients. FA was decreased in the frontal and occipital WM, bilateral IC, midbrain and pons. Normal-appearing white matter on FLAIR images showed significantly increased MD and decreased FA values in both frontal and occipital lobar WM and IC compared with those in controls. Correlation of clinical scores and DTI metrics revealed positive correlation between neurological symptom score (NSS) and MD of anterior limb of right internal capsule, Chu stage and MD of frontal and occipital WM. Negative correlation was observed between the Modified Schwab and England Activities of Daily Living (MSEADL) score and MD of bilateral frontal and occipital WM and IC. This is the probably the first study to reveal widespread alterations in WM by DTI metrics in drug naïve WD. DTI analysis revealed lobar WM abnormalities which is less frequently noted on conventional MRI and suggests widespread WM abnormalities in WD. It may be valuable in assessing the true extent of involvement and therefore the severity of the illness.