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The current study estimated incident breakthrough seizures, serum matrix metalloproteinase-9 (MMP-9), and perfusion magnetic resonance imaging (MRI) parameters in five- to 18-year-olds with neurocysticercosis (NCC) from colloidal or vesicular through calcified stages over at least 24 months' follow-up. Single, colloidal, or vesicular parenchymal NCC cases were treated with albendazole and steroids and followed at a tertiary care north Indian hospital. Serum MMP-9 was estimated in colloidal or vesicular treatment-naive state and in a subset of calcified cases at six-month follow-up. The same subset of calcified cases also underwent perfusion MRI of the brain at six-month follow-up. Among 70 cases, 70% calcified at six-month follow-up. Over a median follow-up of 30 months, the incidence of breakthrough seizures was 48.6% (61.2% in calcified and 19.2% in resolved, P = 0.001; 32.9% early [within six months] and 15.7% late [beyond six months], P = 0.02). Serum MMP-9 levels were higher in colloidal and vesicular compared with calcified stage (242.5 vs 159.8 ng/mL, P = 0.007); however, there was no significant association with breakthrough seizures and/or calcification in follow-up. In a subgroup of calcified cases (n = 31), the median relative cerebral blood volume on perfusion MRI in and around the lesion was lower in those with seizures (n = 12) than in those without (n = 19) (10.7 vs 25.2 mL/100 g, P = 0.05). In post-treatment colloidal or vesicular NCC, incident breakthrough seizures decrease beyond six months. In calcified NCC with remote breakthrough seizures, significant perilesional hypoperfusion is seen compared with those without seizures. [ABSTRACT FROM AUTHOR]

• Beyond 20 minutes, 38.9 % of abnormal awake EEGs achieve a final diagnosis. • Beyond 20 minutes, 20.4 % of abnormal sleep EEGs achieve a final diagnosis. • Sleep and awake records of 30 and 40 minutes correctly diagnose 90 % abnormal EEGs. • Inclusion of sleep records in awake EEGs increases diagnostic yield. • More focal seizures are diagnosed after 20 minutes in awake and sleep EEGs. This study aimed to determine the proportion of EEG recordings yielding diagnostic findings leading to a change in diagnosis beyond a 20-minute recording window, striking a balance between diagnostic yield and clinical practicability. At a tertiary care teaching hospital in North India, 225 subjects aged 1 month to 18 years undergoing outpatient EEG were enrolled. Patients with epileptic encephalopathies, nonepileptic phenomena, and breakthrough seizures in the last 24 hours were excluded. Two recording protocols were employed: Category A (n=163, awake recording with activation procedures for 15 minutes followed by an attempt at sleep for 60 minutes) and Category B (n=62, sleep recording for 55 minutes followed by 5 minutes of awake recording for younger children and those with impaired cognition). EEGs were prospectively reported at 20, 30, 40, 50, and 60-minute time points, with no retrospective changes allowed. Among abnormal EEGs, the final diagnosis was changed beyond 20 minutes in 38.9% and 20.4% in categories A and B, respectively. A significant change in the final diagnosis among abnormal EEGs beyond 20 minutes was seen in - those who achieved sleep compared to those who didn't (45% versus 19%, p=0.03) in category A, and - focal compared to generalised seizures (Category A: 26.1% versus 8.3%, p=0.01; Category B: 23.8% versus 0%, p=0.02). Forty minutes of awake EEGs with/without sleep and 30 minutes of sleep EEGs achieve a final diagnosis in nearly 90%. Prolonging awake records beyond 20 minutes, incorporating sleep, is particularly beneficial in focal epilepsies. [ABSTRACT FROM AUTHOR]

A 3-year-old boy presented with acute headache, vomiting and right focal clonic seizures without history of fever, joint pain or altered sensorium. Neuroimaging showed multifocal contrast enhancing lesions with significant perilesional edema. CECT chest and abdomen showed multiple variable sized nodules in the lungs and hypodense lesion in liver with mesenteric lymphadenopathy. There was persistent eosinophilia with maximum upto 35 %. Liver biopsy and brain biopsy revealed Cladophialophora bantiana. He was treated with IV liposomal amphotericin and voriconazole for 6 weeks with repeat neuroimaging showing more than 50 % resolution of the intracranial lesions. He was transitioned to oral combination of flucytosine and voriconazole. At 14 months follow-up, he remained symptom free with complete radiological resolution of the lesions and no eosinophilia. High suspicion, an aggressive approach in obtaining microbiological diagnosis and timely combination antifungal therapy may give satisfactory outcome without surgery. [ABSTRACT FROM AUTHOR]

Purpose: To describe and correlate the clinical, radiological and EEG findings in children with lissencephaly.Method: Retrospective record analysis of children with lissencephaly presenting to tertiary health centre in Northern India was performed. Radiological classification and severity scoring were done. EEG findings were categorized into three patterns and its association with clinical severity was studied.Results: Twenty-eight children (males = 17) with lissencephaly were enrolled. Median age at diagnosis was 6.5months (range 3days-3years). Global developmental delay (median social quotient (SQ) = 25 (range15-68) was seen in all; motor deficits in 23 (82 %); epilepsy in 21 (75 %); behavioural problems in 18 (64 %); ophthalmic problems in 17 (61 %); microcephaly in 13 (46 %); feeding difficulty in 12 (43 %). Radiologically, classical Type I lissencephaly was seen in 18(64 %), cobblestone variant (Type II) in 5 (18 %) and microlissencephaly in 5 (18 %). Grade 4 (diffuse pachygyria) radiologic severity was most common (severity grade 1-6); no cases with severity score 5 or 6 were seen. The clinical profile did not correspond with radiological severity grading. EEG pattern recognition revealed pattern I in 14 (50 %); pattern II in 6 (21 %); pattern III in 8 (29 %). Children with pattern III EEG had drug resistant epilepsy and severe developmental delay. No relationship between EEG patterns and radiological severity grading was evident.Conclusion: EEG is better predictor of clinical status and outcome rather than radiological severity grading. EEG pattern III is associated with severe developmental delay and drug resistant epilepsy. [ABSTRACT FROM AUTHOR]

Background: Childhood epilepsy forms a significant burden on the health-care delivery system. Only a few pediatric neurologists available in most of the developing countries and caregivers face a lot of financial and logistic hardships, apart from a long waiting period for initial and follow up visits. Telemedicine is a proposed effective alternative in overcoming this burden.Methods: Telephonic consultation by a pediatric neurology fellow was compared with that of a specialty nurse; both against face-to-face consultation (gold standard). Care-givers of children 4 months-18 years with epilepsy were telephonically consulted 24-48 hours before their scheduled hospital appointment by one specialty nurse and one pediatric neurology fellow at least 24 h apart in a random sequence. During the hospital visit, another pediatric neurology fellow blinded to the telephonic consultation, documented the same after Face-to-Face interview.Results: In 141 children with epilepsy, 504 critical clinical events were identified. Telephonic consultation by pediatric neurology fellow had a sensitivity of 99 %, 97 %, and 100 % and specificity of 100 % each in detecting whether the child had any breakthrough seizure, any adverse event and whether the drug compliance was adequate or poor respectively, as compared to face-to-face consultation. Telephonic consultation by specialty nurse had a sensitivity of 91 %, 84 %, and 98 % and specificity of 97 %, 99 %, and 81 % in detecting whether the child had any breakthrough seizure, adverse event and whether the drug compliance was adequate or poor respectively. But the specialty nurses fared poorly in identifying atypical seizure semiologies like atonic and myoclonic seizures and documenting an exact number of breakthrough seizures, as well as few subjective adverse effects like behavioral abnormality and scholastic worsening, which was performed excellently by the pediatric neurology fellow.Conclusions: Telephonic consultation in childhood epilepsy by pediatric neurology fellow has excellent sensitivity and specificity. A specialty nurse has also acceptable sensitivity and specificity in comparison with a face-to-face consultation. [ABSTRACT FROM AUTHOR]

Purpose: This study aims to assess the prevalence of sleep abnormalities in children with drug-resistant epilepsy (DRE) and characterize their polysomnographic profile and to further compare it with well-controlled epilepsy (WCE) and age-matched typically developing children (TDC).Methods: A cross-sectional study consisting of 40 children in each group (DRE, WCE, and TDC) was conducted. Children's sleep habits questionnaire (CSHQ) and modified pediatric Epworth daytime sleepiness scale (MPEDSS) were administered to all three groups. Thirty-five children each in the DRE and WCE group and 17 TDC underwent single night polysomnography (PSG).Results: The prevalence of sleep abnormalities by the administration of CSHQ in DRE group was 72.5% (95% C.I-58.7 to 86.3%, mean score: 47.5 ± 7.1) compared to 32.5% (42.4 ± 6.2) and 15% (37.3 ± 5) in WCE and TDC groups respectively (P = 0.01). On MPEDSS, 52.5% of children in the DRE group had excessive daytime sleepiness compared to 12.5% in WCE and 5% in TDC groups respectively (p-0.03). On overnight PSG, sleep efficiency and REM sleep duration were significantly reduced in the DRE group in comparison to WCE and TDC. N2 duration, REM latency, arousal, and apnea-hypopnea index were significantly increased in the DRE group when compared to WCE and TDC groups.Conclusion: Sleep-related problems are major comorbidity in up to three-fourths of patients with DRE and sleep architecture is significantly affected particularly in the DRE group. [ABSTRACT FROM AUTHOR]

Management of pediatric epilepsies poses unique challenges around diagnosis, treatment options, comorbidities, and the potential for these factors to interact with processes in the developing brain. In pediatric patients, broad-spectrum antiseizure medications (ASMs) with minimal potential for adverse events (AEs) and limited impact on cognition and behavior are preferred. Perampanel is a first-in-class ASM with broad-spectrum efficacy, a tolerable safety profile, minimal negative impact on cognitive function, and other features that make it a viable treatment option in this patient population. However, evidence and experience of its use in pediatric patients are less extensive than in adult patients. Experts in pediatric epilepsy across the region convened at a series of meetings to discuss the use of perampanel in pediatric patients, including dose optimization, AE prevention and management, and considerations in particular groups. This article summarizes key evidence for perampanel in the pediatric population and consolidates the experts' recommendations for using the ASM in managing pediatric epilepsies. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

Background: The prevalence of autism spectrum disorder (ASD) is on the rise. Apart from the core behavioral issues of impaired communication, impaired social interaction, and restricted and/or repeated behavioral phenotype, comorbidities like sleep problems are increasingly getting recognized as important determinants of management and overall quality of life.Methods: This study was conducted in a tertiary care teaching hospital in northern India over a two year period. Children diagnosed with ASD and normally developing children (control subjects) aged 3 to 10 years were enrolled in the study. Both groups underwent sleep evaluation based on the Children's Sleep Habit Questionnaire. Children with ASD also underwent polysomnography, Childhood Autism Rating Scale, Childhood Behavioral Checklist, and Developmental Profile 3 assessments.Results: The prevalence of poor sleepers among children with ASD and control subjects was 77.5% (confidence interval 66 to 86.5). and 29.2% (confidence interval 18.6 to 41.5), respectively (P < 0.001). The salient findings on polysomnography were reduced sleep efficiency, decreased rapid eye movement and slow wave sleep duration, and desaturation index>1. The Childhood Behavioral Checklist score was significantly high in poor sleepers compared with good sleepers on Children's Sleep Habit Questionnaire (P = 0.004). There was no correlation of Childhood Autism Rating Scale or Developmental Profile 3 score with sleep problems in children with ASD.Conclusions: Nearly three fourths of children with ASD have sleep abnormalities with a possible effect on the behavioral phenotype. The polysomnographic findings provide further insight with opportunity for pharmacological interventions. Screening for sleep problems is imperative for the appropriate management and overall improvement in quality of life in children with ASD. [ABSTRACT FROM AUTHOR]

Sleep disorders are common in childhood and adolescence with mental and physical consequences needing appropriate intervention by caregivers and health care providers (HCPs). The objective of the study, conducted at a tertiary teaching hospital and public school in north India, was to develop validated questionnaires to evaluate childhood and adolescent sleep awareness in caregivers and HCPs. The study participants (caregivers represented by parents of 2-18 year olds attending a public school and of those attending outpatient services at the study hospital and HCPs represented by medical interns and nursing graduates within 1 year of graduation) were enrolled after appropriate screening. Two separate questionnaires in English for caregivers (also translated in Hindi) and HCPs were applied on 313 caregivers and 175 HCPs (110 medical interns and 65 nursing graduates) and developed and validated with a Cronbach α of 0.73 and 0.74, respectively. The questionnaires covered three domains: sleep hygiene, sleep related health problems, and miscellaneous. Both group of respondents had >50% correct responses in sleep hygiene. The ĸ agreement between knowledge and practice of sleep hygiene in caregivers was 0.2. Poor response (<50% correct responses) was seen in sleep-related health problems in both groups of respondents implying knowledge deficit in various sleep disorders. The HCPs performed poorly on basic theoretical questions in miscellaneous domain. For consultation of sleep problems, most caregivers (48%) chose pediatricians. There is a need to strengthen undergraduate medical and nursing curriculum in sleep. Caregivers should be made aware of implications of unhealthy sleep. [ABSTRACT FROM AUTHOR]

Abstract: This prospective cross-sectional study was conducted at a tertiary care research centre in North India to describe the frequency and clinical characteristics of subtypes of childhood Guillain–Barré syndrome. Among the 68 children enrolled, 65 were finally diagnosed with Guillain–Barré syndrome (median age, 60months); 45 (69%) were boys. The most common subtype was acute motor axonal neuropathy in 27 patients (41.5%, 95% confidence interval [CI] 29–54), followed by acute inflammatory demyelinating polyneuropathy in 15 (23%, 95% CI 13.5–35), and acute motor sensory axonal neuropathy in three (4.6%, 95% CI 1–13). Twelve patients (18.5%, 95% CI 10–30) had inexcitable nerves, and eight (12.4%, 95% CI 5.5–23) were unclassifiable. Those with acute inflammatory demyelinating polyneuropathy were more likely to have had a preceding upper respiratory tract infection. The acute motor axonal neuropathy subtype peaked in incidence during the winter and monsoon months. [Copyright &y& Elsevier]

Abstract: Schwartz Jampel syndrome is a rare neuromuscular disorder with autosomal recessive inheritance characterized by myotonia, distinctive facial features including blepharospasm and a puckered chin, short stature and skeletal dysplasia. We report six Indian children with this disorder presenting with different clinical manifestations. [Copyright &y& Elsevier]

Abstract: This prospective, open label, uncontrolled study was performed to evaluate the efficacy and tolerability of the modified Atkins diet in children with refractory infantile spasms. Fifteen consecutive children aged six months to three years having daily infantile spasms in clusters with electroencephalographic evidence of hypsarrhythmia despite treatment with hormonal treatment (oral corticosteroids/adrenocorticotrophic hormone) and/or vigabatrin, and at least one additional anti-epileptic drug were enrolled. Children with known or suspected inborn errors of metabolism or systemic illnesses were excluded. Carbohydrate intake was restricted to ten grams/day. Among these 12 boys and three girls (median age-24 months), 13 had symptomatic etiology. After three months of diet, six children were spasm free. The time to spasm freedom after diet initiation ranged from two days to two months. The most frequent adverse effect observed was constipation. The modified Atkins diet was found to be effective and well tolerated in children with refractory infantile spasms (ClinicalTrials.gov identifier: NCT01006811). [Copyright &y& Elsevier]

Abstract: Aim: This study evaluated the efficacy and tolerability of the ketogenic diet (KD) in young Indian children with refractory epilepsy. The changes in biochemical and lipid profile with KD were also assessed. Methods: Children aged 6 months to 5 years who had daily seizures (or at least 7 seizures/week) despite the appropriate use of at least three antiepileptic drugs were enrolled. KD was introduced using a non-fasting gradual initiation protocol. Seizure frequency, biochemical profile (liver and kidney function tests, fasting lipid profile, and spot urinary calcium–creatinine ratio) and adverse effects were recorded. Patients continuing KD were followed up for a minimum period of 12 months. Results: Twenty-seven children were enrolled. Non-fasting gradual KD initiation was well tolerated. Eighty-eight percent remained on KD at 3 months, 55% remained on KD at 6 months, and 37% remained on it at 1 year. Intention-to-treat analysis revealed that 48% (13 of 27) had >50% reduction in seizures, and four children (15 %) were seizure free at 6 months. At 1 year, 37% had >50% reduction in seizures and five children (18.5%) were seizure free. Adverse effects included constipation (74%), weight loss (14.8%), edema due to hypo-albuminemia (7.4%) and renal stones (3.7%). Biochemical profile did not reveal significant changes over time, except for reduced serum albumin and increased spot urinary calcium–creatinine ratio. Conclusion: KD is an effective and well-tolerated treatment option in young Indian children with refractory epilepsy. However, careful ongoing medical supervision is needed. [Copyright &y& Elsevier]

Lyme disease is endemic to parts of the Americas, Europe and Asia. However, only a handful of sporadic cases have been reported from India. In this study, we systematically evaluated the clinical and epidemiological features of Lyme disease in North India. All samples were tested by using the standard two-tiered testing algorithm (STTA). Paired serum and cerebrospinal fluid (CSF) were used for demonstrating Borrelia burgdorferi specific intrathecal IgG antibody synthesis (AI). In addition, a commercial tick-borne bacterial flow chip (TBFC) system and a real-time PCR were also used to detect Borrelia species and Anaplasma phagocytophilum in patients who were positive by STTA. The diagnosis of Lyme disease was confirmed in 18 (7.14%) of the 252 clinically suspected cases by STTA. Neurological involvement was reported in 14 (77.78%) patients, whereas joint and heart involvement was reported in five (27.78%) and three (16.67%) patients, respectively. Lymphocytic pleocytosis (median 37.5 cells/mm3; range 12–175 cells/mm3) in the CSF was seen in 11 of 14 Lyme neuroborreliosis (LNB) patients. Intrathecal production of Borrelia specific IgG antibodies was demonstrated in 9 (64.28%, n = 14) patients, a highly specific finding for neuroborreliosis. Two patients (11.11%) were also found to be co-infected with human granulocytic anaplasmosis. The results of this study show clinical and laboratory evidence of endemic Lyme disease in North India and thus, highlight the importance for travel medicine practitioners and physicians to evaluate for Lyme disease in patients with compatible symptoms and a history of travel to tick risk areas. [ABSTRACT FROM AUTHOR]

Children with infantile epileptic encephalopathies comprising 3.5% of the Pediatric Neurology Clinic registrations in a tertiary care hospital were retrospectively analyzed. Data were retrieved from case records and analyzed for seizure semiology, prenatal and perinatal insults, developmental status and relevant investigations. The various therapeutic modalities and their influence on spasm frequency, long-term development and final seizure status were compared. The two primary outcome variables analyzed included final seizure status and developmental outcome. Of the 94 infantile epileptic encephalopathies, West syndrome was the commonest (55.3%), of which two thirds were symptomatic. Etiological factors were prenatal in 66.6% and perinatal in 33.3%. The initial response to ACTH was good in 54.5% with subsequent relapse in 27.8% and for prednisolone was 52.9 and 44.4%, respectively, compared to 25.3% spasms control with conventional antiepileptic drugs. Disease category of infantile epileptic encephalopathies evolved in 4, i.e. early myoclonic encephalopathy to West syndrome 1, early infantile epileptic encephalopathy to West syndrome 1, West syndrome to Lennox–Gastaut syndrome 2. Psychomotor retardation was seen in 88.2%, with 16.1% having normal development at onset of spasms. Microcephaly was associated with delayed development but did not influence final seizure outcome. Final seizure outcome was poor in children with delayed development at onset (adjusted odds ratio {OR}=4), delay in diagnosis >12 months (OR=2.27) and in children with Lennox–Gastaut syndrome (OR=4.75). ACTH/prednisolone and antiepileptic treatment versus antiepileptics alone showed a good final seizure response in 36.6% versus 20%. Development on follow up was delayed in children with initial psychomotor retardation (OR=23.4) and abnormal electroencephalogram (OR=7.46). Perinatal factors constituted one third of symptomatic West syndrome. The use of ACTH/corticosteroids resulted in good initial spasm control though final seizure outcome and development were unaffected. Prednisolone had similar response to ACTH in spasm control but higher subsequent relapse rate. Vigabatrin was useful though often unaffordable. The identification of a neurometabolic etiology, though uncommon, has significant therapy implications. Delay in diagnosis was common and negatively influenced final seizure outcome. [Copyright &y& Elsevier]

Pathogenic variants in the NDUFV1 gene disrupt mitochondrial complex I, leading to neuroregression with leukoencephalopathy and basal ganglia involvement on neuroimaging. This study aims to provide a concise review on NDUFV1 -related disorders while adding the largest cohort from a single center to the existing literature. We retrospectively collected genetically proven cases of NDUFV1 pathogenic variants from our center over the last decade and explored reported instances in existing literature. Magnetic resonance imaging (MRI) patterns observed in these patients were split into three types—Leigh (putamen, basal ganglia, thalamus, and brainstem involvement), mitochondrial leukodystrophy (ML) (cerebral white matter involvement with cystic cavitations), and mixed (both). Analysis included 44 children (seven from our center and 37 from literature). The most prevalent comorbidities were hypertonia, ocular abnormalities, feeding issues, and hypotonia at onset. Children with the Leigh-type MRI pattern exhibited significantly higher rates of breathing difficulties, whereas those with a mixed phenotype had a higher prevalence of dystonia. The c.1156C>T variant in exon 8 of the NDUFV1 gene was the most common variant among individuals of Asian ethnicity and is predominantly associated with irritability and dystonia. Seizures and Leigh pattern of MRI of the brain was found to be less commonly associated with this variant. Higher rate of mortality was observed in children with Leigh-type pattern on brain MRI and those who did not receive mitochondrial cocktail. MRI phenotyping might help predict outcome. Appropriate and timely treatment with mitochondrial cocktail may reduce the probability of death and may positively impact the long-term outcomes, regardless of the genetic variant or age of onset. [ABSTRACT FROM AUTHOR]

Childhood epileptic syndrome characterized by early onset gelastic seizures, hypothalamic hamartoma and precocious puberty is well recognized though rare. We report association of agenesis of corpus callosum, Dandy–Walker complex and heterotopic gray matter with this childhood epileptic syndrome which is hitherto an unreported association. The child showed a satisfactory response to gonadotropin releasing hormone agonist. [Copyright &y& Elsevier]

Abstract: Cardiac complications have been rarely reported associated with the ketogenic diet. Prolonged QT interval in the electrocardiogram and torsades de pointes arrhythmias have been described in a few cases. The effect of the ketogenic diet on QT interval has not been systematically evaluated. We obtained serial electrocardiograms in our patients on the ketogenic diet to look for changes in the mean QT interval. Twenty seven children aged 6months to 5years with refractory epilepsy were enrolled. Classic ketogenic diet was introduced using a non-fasting gradual initiation protocol. All patients were supplemented with oral calcium and selenium. Electrocardiograms were obtained at baseline and after 1, 3, 6, and 12months on the ketogenic diet. There was no statistically significant change in the corrected QT interval over time. There were no ST segment changes or dysrhythmias in any of the electrocardiograms. [Copyright &y& Elsevier]

Background: Autonomic dysfunction is common in children with Rett syndrome. They usually manifest with agitation, persistent screaming, constipation, gastroesophageal reflux, aerophagia, hyperventilation, and breath-holding episodes. Cardiovascular autonomic dysfunction may result in fatal a arrhythmia. Many of these events are mistaken for seizures and treated with antiepileptics.Methods: The present study was conducted in a tertiary care teaching hospital in north India for more than a six month period. MeCP2 mutation positive, 24 cases with Rett syndrome and 24 age-matched healthy girls were evaluated for cardiovascular autonomic dysfunction (heart rate variability, head-up tilt test, and cold pressor test).Results: The mean age was 9.06 years (±3.4) and 9.75 years (±3.13) for patients and control subjects, respectively. The heart rate variability contributed independently by parasympathetic and sympathetic nervous system was significantly reduced in cases compared with control subjects (P = 0.033 and P = 0.001, respectively). There was significant sympathovagal imbalance with sympathetic overactivity in cases compared with control subjects (P = 0.001). The mean longest QTc interval was significantly prolonged in cases compared with control subjects (P = 0.001). Cold pressor test and head-up tilt test could be done in 16 Rett syndrome patients (because of poor cooperation) and in all 24 control subjects. The change in blood pressure during cold pressor test and head-up tilt test was not significantly different in cases and control subjects.Conclusions: Children with Rett syndrome exhibited significant cardiovascular autonomic dysfunction in the form of sympathetic overactivity, parasympathetic underactivity, and sympathovagal imbalance. These findings have potentially important therapeutic- and outcome-related implications. [ABSTRACT FROM AUTHOR]