Rm Pandey

Development and validation of AIIMS modified INCLEN diagnostic instrument for epilepsy in children aged 1 month–18 years

OBJECTIVES There is shortage of specialists for the diagnosis of children with epilepsy, especially in resource limited settings. Existing INCLEN (International Clinical Epidemiology Network) instrument was validated for children aged 2-9 years. The current study validated modifications of the same including wider symptomatology and age group. METHODS The Modified INCLEN tool was validated by a team of experts by modifying the existing tools (2-9 years) to widen the age range from 1 month to 18 years and include broader symptomatology in a tertiary care teaching hospital of North India between January and June 2015. A qualified medical graduate applied the candidate tool which was followed by gold standard evaluation by a Pediatric Neurologist (both blinded to each other). RESULTS A total of 197 children {128 boys (65%) and 69 girls (35%)}, with a mean age of 72.08 (±50.96) months, completed the study. The sensitivity, specificity, positive and negative predictive value, positive and negative likelihood ratio of the modified epilepsy tool were 91.5% (84.5-96.1), 88.6% (80.0-93.5), 89.7% (81.9-95.3), 90.8% (83.7-95.7), 8 (6.6-9.8) and 0.09 (0.07-0.12) respectively. SIGNIFICANCE The new modified diagnostic instruments for epilepsy is simple, structured and valid instruments covering 1month to 18 years for use in resource limited settings with acceptable diagnostic accuracy. All seizure semiologies as well as common seizure mimics like breath-holding spells are included in the tool. It also provides for identification of acute symptomatic and febrile seizures.

Skin biopsy: a new tool to diagnose sarcoglycanopathy.

Muscular dystrophies are progressive, genetic disorders of muscle degeneration. The current gold standard for diagnosis is muscle biopsy or genetic studies. Muscle biopsy is an invasive procedure and genetic testing facilities are available only in a few centers. Thus, a diagnostic test that is easily available, simpler, and less invasive is desirable. Over the past 2 decades, skin biopsy has been evolving as a suitable option. Two cases of sarcoglycanopathy are described here, which have been correctly diagnosed by skin biopsy. Muscle biopsy has been used as the gold-standard diagnostic method. Skin biopsy can substitute for muscle biopsy as the preliminary diagnostic tool directing appropriate molecular testing. However, these results require validation in studies with an adequate sample size. This holds promise for the future when repeated biopsies will be required for evaluating protein rescue in trials of novel treatment options in these disorders.

Cardiovascular Autonomic Dysfunction in Patients of Nonalcoholic Fatty Liver Disease

Aim. The present study was designed to evaluate the heart rate variability (HRV) in nonalcoholic fatty liver disease (NAFLD) and to assess the effect of grade of NAFLD and diabetic status on HRV. Methods. This cross-sectional study included 75 subjects (25 NAFLD without diabetes, 25 NAFLD with diabetes, and 25 controls). Measurements included anthropometry, body composition analysis, estimation of plasma glucose, serum lipids, hsCRP, and serum insulin. HRV analysis was performed in both time and frequency domains. Results. The time and frequency domain indices of overall variability (SDNN, total power) were significantly lower in NAFLD with diabetes as compared to the controls. However, the LF : HF ratio did not differ among the three groups. The variables related to obesity, lipid profile, and glucose metabolism were also higher in NAFLD with diabetes and those with Grade II NAFLD without diabetes, as compared to controls. Multivariate stepwise regression analysis showed a negative correlation between HRV and total cholesterol and fat percentage. Conclusion. The grade of NAFLD as well as diabetic status contributes to the decrease in the cardiovascular autonomic function, with diabetic status rather than grade of NAFLD playing a critical role. Serum lipids and adiposity may also contribute to cardiac autonomic dysfunction.

Clinical spectrum of Psychogenic non epileptic seizures in children; an observational study

PURPOSE The current study was designed to analyze the clinical spectrum of Psychogenic non-epileptic seizures (PNES) in children. METHODS Children aged 6-16years with clinically suspected PNES, confirmed by short-term VEEG (STVEEG{video electroencephalogram}) and induction were classified as per Seneviratne classification. Stressors, associated co morbidities, Verbal IQ (Intelligence Quotient) and behavioral abnormalities were assessed using HTP(House tree person) test, DSM IV (Diagnostic and statistical manual of mental disorders) TR criteria, MISIC (Malin intelligence scale for Indian children) and CBCL (Child behaviour checklist). RESULTS Eighty children with PNES {45 boys; mean age: 10.5 (±1.6) years} were enrolled. Median delay in diagnosis was 5 months {IQR(interquartile range)- 0.5 to 48 months}) and 45% patients were already on AEDs (antiepileptic drugs). Commonest semiology was dialeptic (42.5%), followed by mixed (28.8%), motor (15%) and nonepileptic aura (13.8%). Family stressors were the commonest followed by school related issues. The most common psychiatric comorbidity was adjustment disorder. Somatic complaints were observed in 50% children. CONCLUSIONS Dialeptic PNES is commonest in children. In resource constrained settings, STVEEG along with induction is a reliable method to diagnose PNES. A comprehensive assessment protocol (including assessment of stressors) is needed for holistic management of pediatric PNES.

Development and validation of Cognitive Training Intervention for Alzheimer’s disease (CTI-AD): A picture-based interventional program

Introduction Alzheimer’s disease is a gradual and progressive disorder which cripples the person’s functionality due to cognitive decline. Many clinicopathological and pharmacological therapy has the potential to slow down the progression of the disease but has limited efficacy. One complimentary approach that has emerged is cognitive training interventions which have shown synergistic effect with the drug therapy. Nevertheless, many cognitive interventions lack on specificities of the intervention due to which its efficacy gets scrutinized. Objective To describe the foundation, content, and development of Cognitive Training Intervention for Alzheimer’s disease (CTI-AD) along with the treatment feasibility based on a pilot study. Materials and methods A culture-specific picture-based eight weeks cognitive training manual was developed based on extensive review and focused group discussions. It was standardized on 63 older participants (48 healthy controls (HC); 15 early Alzheimer’s disease cases). Results All the tasks were progressive in nature and were found effective in discriminating the cognitive performance of early Alzheimer’s disease and HC throughout the intervention period. Moreover, it also improved early Alzheimer’s disease performance on the memory (HC: 1st week/8th week = 21.6 ± 5.7/57.3 ± 19.0; early Alzheimer’s disease: 1st week/8th week = 48.5 ± 22.9/60.5 ± 21.8); attention (HC: 1st week/8th week = 90.2 ± 18.0/196.9 ± 28.0; early Alzheimer’s disease: 1st week/8th week = 216.6 ± 78.2/286.8 ± 87.0) and language (HC: 1st week/8th week = 29.8 ± 9.4/115.3 ± 31.1; early Alzheimer’s disease: 1st week/8th week = 211.8 ± 68.4/270.4 ± 104.9) domains, respectively, from the baseline level. Conclusion The current manual (CTI-AD) is one of the first promising non-pharmacological program developed nationally with a strong theoretical base to cater to the tertiary needs of the older adults with early Alzheimer’s disease.

Development of All India Institute of Medical Sciences-Modified International Clinical Epidemiology Network Diagnostic Instrument for Neuromotor Impairments in Children Aged 1 Month to 18 Years

Introduction There is shortage of specialists for the diagnosis of children with neuromotor impairments (NMIs), especially in resource limited settings. Existing International Clinical Epidemiology Network (INCLEN) instrument for diagnosing NMI have been validated for children aged 2–9 years. The current study modified the same including wider symptomatology and age group (1 month to 18 years). Methods The Modified INCLEN diagnostic tool (INDT) was developed by a team of experts by modifying the existing tool to widen the age range (1 month to 18 years) and include broader symptomatology (inclusion of milestones from the first 2 years of life and better elucidation of cerebellar and extrapyramidal features) in a tertiary care teaching hospital of North India between January and April 2015. A trained medical graduate applied the candidate tool, which was followed by gold standard evaluation by a Pediatric Neurologist (both blinded to each other). Results A total of 197 children (102 with NMI and 95 without NMI) were enrolled for the study. The sensitivity, specificity, positive and negative predictive values, positive and negative likelihood ratio of the modified NMI tool were 90.4% (82.6–95.5), 95.5% (88.7–98.7), 95.5% (88.9–98.7), 90.3% (82.4–95.5), 19.9 (12.1–32.6), and 0.13 (0.08–0.12), respectively. Conclusion The All India Institute of Medical Sciences modified INDT NMI tool is a simple and structured instrument covering a wider symptomatology in the 1 month to 18 years age group with acceptable diagnostic accuracy.