Shivaji Rao

Autonomic dysfunction in Wilson's disease --a clinical and electrophysiological study.

Abstract. Wilsons disease is known for its protean manifestations; however involvement of the autonomic nervous system has not received much attention. Fifty patients with varying duration and severity of illness were evaluated for autonomic dysfunction clinically and electrophysiologically, using sympathetic skin response (SSR) and RR interval variability (RRIV) on deep breathing. The change in heart rate (ΔHR) was calculated from RRIV. Five patients had at least one autonomic symptom and one asymptomatic patient had significant postural hypotension. Absent SSR and abnormal ΔHR were noted in seven patients each. Overall, 13 patients had electrophysiological dysautonomia and an additional six had clinical dysautonomia. All had normal peripheral conductions and all but one had normal hepatic functions. Dysautonomia was more common among patients with neurological presentation (12/32) than non-neurological (1/18) (p = .012).Dysautonomia, often subclinical is common in Wilsons disease and is probably of central origin. It is more frequent among those with neurological presentation. Sympathetic and parasympathetic functions are equally affected.

Nontraumatic spinal cord lesions: a prospective study of medical complications during in-patient rehabilitation

Study design:Prospective study between 1st Jan 1995 and 31st Dec 1999.Objective:To document medical complications among subjects with Nontraumatic Spinal Cord Lesions (NTSCL) during in-patient rehabilitation.Setting:Bangalore, India.Methods:Persons with NTSCL admitted for in-patient rehabilitation were included in the study. Clinical evaluation was carried out according to The International Standards for Neurological and Functional classification of Spinal Cord Injury. Disability was quantified using Barthel index. All medical complications were documented.Results:A total of 297 subjects (154 men and 143 women) with NTSCL were included. The number of medical complications in each patient varied from 0 to 17 (mean=6.1±3.7). Common complications seen were urinary tract infections (184), spasticity (169), pain (149), urinary incontinence (147), depression (114), respiratory tract infections (101), constipation (92), pressure ulcers (89), contractures (52) and sleep disturbance (43). The number of medical complications correlated positively with duration of stay (Pearsons correlation coefficient r=0.5, P<0.01) and negatively with Barthel Index at admission (r=−0.2, P<0.05) and at discharge (r=−0.2, P<0.05). Complications were more frequent among people with tetraplegia than those with paraplegia (P<0.001).Conclusions:Medical complications are frequent among subjects undergoing rehabilitation for NTSCL. Patients with severe disability at admission have more complications during rehabilitation. Conversely, individuals with more complications have greater disability at discharge.

Sleep disturbances in juvenile myoclonic epilepsy: A sleep questionnaire-based study

Sleep and epilepsy share a complex pathophysiological association. Juvenile myoclonic epilepsy (JME) is a common sleep-sensitive epilepsy in which the effect of seizures could have therapeutic implications in terms of sleep disturbances and seizure control. This study aimed to analyze the effect of epilepsy on sleep in patients with JME. Fifty patients on valproic acid (VPA) monotherapy, and age- and gender-matched controls were recruited into this prospective, hospital-based, case-control study after informed consent and screening for inclusion criteria. They underwent a detailed clinical assessment, electroencephalogram (EEG) and neuroimaging, and were administered validated sleep questionnaires, which included the Epworth Sleepiness Scale (ESS), Pittsburgh Sleep Quality Index (PSQI) and NIMHANS Sleep Disorders Questionnaire. The patient and control groups had identical numbers of males and females (M: F=22: 28), without any significant difference in the age and body mass index (BMI). The clinical profile of JME was similar to published literature while the prevalence of EEG abnormalities was less compared to similar studies. The mean ESS and PSQI scores and the number of subjects with abnormal scores on one or both questionnaires were significantly more in patients. Patients had a higher prevalence of sleep disturbances, insomnia and excessive daytime somnolence. No significant seizure- or treatment-related factors influencing sleep could be identified. This study, the first of its kind, revealed that patients with JME have significant sleep disturbances characterized by excessive daytime sleepiness and disturbed night sleep, despite adequate medications and good seizure control. The role of VPA in the genesis of these symptoms needs clarification.

Mortality in mechanically ventilated patients of Guillain Barré Syndrome.

Background: The mortality of patients with Guillain Barré syndrome (GBS) has varied widely with rates between 1-18%. Death results from pneumonia, sepsis, adult respiratory distress syndrome (ARDS) and less frequently due to autonomic dysfunction or pulmonary embolism. There are only few studies which have used a large sample and have in detail analyzed the circumstances relating to death and the prognostic factors for the same in a cohort, including only mechanically ventilated patients. Objective: The objective of our study was to analyze the circumstances and factors related to mortality in mechanically ventilated patients of GBS. Materials and Methods: Case records of patients of GBS, satisfying National Institute of Neurological and Communicative Disorders and Stroke (NINCDS) criteria, and requiring mechanical ventilation from 1984 to 2007, were analyzed. Results: A total of 273 GBS patients were managed with ventilatory support (190 men and 83 women) during the period. Besides symmetrical paralysis in all patients, bulbar palsy was present in 186 (68.1%), sensory involvement in 88 (32.2%) and symptomatic autonomic dysfunction in 72 (26.4%) patients. The mortality was 12.1%. The factors determining mortality were elderly age group (P=0.03), autonomic dysfunction (P=0.03), pulmonary complications (P=0.001), hypokalemia (P=0.001) and bleeding (P=0.001) from any site. Logistic regression analysis showed the risk of mortality was 4.69 times more when pneumonia was present, 2.44 times more when hypokalemia was present, and 3.14 times more when dysautonomia was present. The odds ratio for age was 0.97 indicating that a higher age was associated with a higher risk of mortality. Conclusions: Ventilator associated pulmonary complications, bleeding and hypokalemia especially in elderly patients require optimal surveillance and aggressive therapy at the earliest for reducing the mortality in this group of GBS patients.

Prognosis of patients with Guillain-Barré syndrome requiring mechanical ventilation

INTRODUCTION Severe Guillain-Barré syndrome (GBS) is associated with significant morbidity and also mortality. Identification of modifiable risk factors may help in reducing the morbidity and mortality. OBJECTIVE To study the prognostic factors in a selected cohort of mechanically ventilated GBS patients. MATERIALS AND METHODS Case records of GBS patients requiring mechanical ventilation admitted between 1997 and 2007 were analyzed. All patients satisfied the National Institute of Neurological and Communicative Disorders and Stroke (NINCDS) criteria for GBS. Primary outcome parameters included mortality and GBS disability (Hughes) scale score at discharge. RESULTS During the study period, 173 (118 men and 55 women; mean age of 33.5 ± 21 years) GBS patients were mechanically ventilated. A history of antecedent events was present in 83 (48%) patients. In addition to motor weakness, In all facial palsy was present in 106 (61%), bulbar palsy in 91 (53%), sensory involvement in 74 (43%), and symptomatic autonomic dysfunction in 27 (16%). The overall mortality was 10.4%. On univariate analysis the risk factors for mortality included elderly age (P = 0.014), autonomic dysfunction (P = 0.002), pulmonary complications (P = 0.011), hypokalemia (P = 0.011), and bleeding (P = 0.026). All these factors were significant in multivariate analysis except for bleeding from any site and hypokalemia. In univariate analysis factors associated with Hughes scale score ≤ 3 at discharge included younger age (P = 0.02), presence of bulbar symptoms (P = 0.03) and less severe weakness at admission (P = 0.02), slower evolution of disease over more than 3 days (P = 0.01), electrodiagnostic evidence of demyelinating neuropathy (P = 0.00), and absence of sepsis (P = 0.01), hyperkalemia (P = 0.0001), and anemia (P = 0.02). In multivariate analysis age was the only significant factor. CONCLUSIONS Early identification of modifiable risk factors, such as pulmonary involvement, autonomic dysfunction, hypokalemia, sepsis, bleeding, and nutritional complications, may reduce the mortality and morbidity associated with GBS.

Sympathetic skin response in Guillain-Barré syndrome

Dysautonomia is a common feature of Guillain—Barré (GB) syndrome and is sometimes the cause of significant morbidity and death. Changes in sympathetic skin response (SSR) may be one of the accompaniments of dysautonomia. An attempt was made to correlate SSR changes with clinical and electrophysiologic features in a group of 24 patients with GB syndrome fulfilling NINDS (National Institute of Neurological Disorders and Stroke) criteria. A total of nine patients had absent SSR. Thirteen patients had clinical dysautonomia, of whom five had absent SSR. Five patients had features of predominant axonal damage and preserved SSR. A trend towards correlation of SSR abnormalities with common peroneal nerve conduction parameters (velocity and compound muscle action potential amplitude) was noted. We conclude that SSR abnormalities are common in GB syndrome and may be complementry to bed-side tests for autonomic dysfunction.

Afferent pathways of sympathetic skin response in spinal cord: a clinical and electrophysiological study

BACKGROUND Sympathetic skin response (SSR) recording is an established test of sudomotor autonomic functions. However, knowledge of its pathways in spinal cord is putative. OBJECTIVE This study involved subjects with isolated spinal cord lesions to evaluate the afferent pathways of SSR. METHODS Clinical examination was done according to standard neurological classification of spinal cord injury. Electrophysiological evaluation included: (1) conventional nerve conduction studies to exclude peripheral nerve lesions, (2) scalp somato-sensory-evoked potentials (SEP) with posterior tibial nerve (PTN) stimulation and (3) SSR recording from palm by stimulating supra orbital nerve (SON) at forehead, and PTN at ankle. Subjects with absent SSR in palm to SON stimulation were excluded. In such patients, the afferent tracts were considered abnormal when SSR was absent in palm on stimulation of PTN. RESULTS Among 37 subjects (age-28.1+/-12.8 years), the afferent tracts of SSR were affected in 13. Sparing of afferent SSR tracts correlated with preservation of bladder sensations (P<0.01). There was no correlation between SSR and SEP. CONCLUSIONS Spinal cord lesions frequently involve afferent tracts of SSR. Spinal afferents of SSR are closely related with tracts of bladder sensations and are different from pathways for SEP.

Altered polysomnographic profile in juvenile myoclonic epilepsy

PURPOSE To study the spectra of sleep profile using PSG in a cohort of patients with JME attending a University hospital. METHODOLOGY This prospective cross-sectional case-control study involved 25 patients of JME (age: 22.0±6.3 years; M:F=13:12) on valproic acid (VPA) and 25 matched healthy controls (age: 23.2±3.04 years; M:F=16:9) were recruited. All patients underwent clinical assessment, electroencephalogram (EEG), and evaluation with sleep questionnaire and PSG. RESULTS PSG analysis revealed significant alterations in sleep architecture in the JME group in the form of reduced mean sleep efficiency (p=<0.035) and number of patients with reduced sleep efficiency (p=0.001), increased mean sleep onset latency (p=0.04) and number of patients with increased sleep latency (p=0.023), reduced mean N2 sleep percentage (p=0.005) and reduced mean total NREM (non-rapid eye movement) sleep (p=0.001) and increased mean wake percentage (p=0.001). The frequency of arousals, involuntary limb movements, and event related arousals in the JME groups was not different from the controls. Patients >20 years had reduced total sleep time compared to those <20 years (p=0.012). Patients with seizures for >5 years had reduced NREM sleep percentage (p=0.042) and those on VPA therapy >1 year had a longer stage 2 (p=0.03) and N3 latency (p=0.03). Patients on ≤600mg/day of VPA had a higher prevalence of isolated limb movements (p=0.01). CONCLUSIONS PSG revealed significant alterations in sleep architecture in JME despite adequate seizure control. There was variable degree of PSG-phenotypic correlation.

Screening for Abnormal Illness Behaviour

A screening test for detecting abnormal illness behaviour in patients with somatic symptoms is described here along with its psychometric properties. This screening version of the Illness Behaviour Questionnaire (SIBQ) is derived from two subscales of the Illness Behaviour Questionnaire and has 11 items. The study was carried out on 78 consecutive patients with prominent somatic complaints and 22 normal volunteers. The SIBQ was administered to the subjects and the sensitivity, specificity and hits positive rates were computed for different cut-off scores. A score of 7 and above gave a sensitivity of 86%, a specificity of 83% and a hits-positive rate of 0.7537, and this seems the optimal cut-off score. The SIBQ may prove to be a sensitive screening instrument to detect probable cases of abnormal illness behaviour and especially useful for busy clinics or centres.

Role of clinical neurophysiological tests in evaluation of erectile dysfunction in people with spinal cord disorders

BACKGROUND While erectile dysfunction is frequent among people with disorders of the spinal cord, the role of various clinical neurophysiological tests in assessment is not clear. AIMS To study the role of clinical neurophysiological investigations in assessing erectile dysfunction among men with spinal cord disorders. SETTING National Institute of Mental Health and Neurosciences, India. DESIGN Survey. MATERIALS AND METHODS Subjects with a score of 21 or less on the International Index of Erectile Function-5 were classified as with erectile dysfunction and with a score of more than 21 as without erectile dysfunction. Clinical neurophysiological studies done were Sympathetic Skin Response from limbs, posterior tibial sensory evoked potential, pudendal sensory potential and bulbocavernous reflex. STATISTICAL ANALYSES Chi-square test. RESULTS Among 40 subjects 26 had erectile dysfunction. The frequency of abnormalities in clinical neurophysiological studies were: pudendal sensory evoked potentials--16, posterior tibial sensory evoked potentials--26, bulbocavernous reflex--5, sympathetic skin response from sole--24 and, sympathetic skin response from palm--18. Significant associations were noted between erectile dysfunction and abnormal pudendal sensory evoked potentials (P=0.0479), and absent sympathetic skin response from palm (P=0.0279) and sole (P< 0.001). There was no correlation between erectile dysfunction and posterior tibial sensory evoked potentials (P=0.133) or bulbocavernous reflex (P=0.418). Sympathetic skin response from sole was most sensitive (80.8%) and had best positive (87.5%) and negative predictive (68.8%) values. The specificity of these three tests was 78.6%. CONCLUSIONS Sympathetic skin response from the sole of the foot was the most sensitive and specific clinical neurophysiological test for erectile dysfunction in spinal cord disorders.