Background: Seizures constitute the most common neurological problem in children. Appropriate diagnosis and management of childhood epilepsy is essential to improve quality of life in them. Objectives of the study were to study the clinical and etiological profile of early childhood epilepsy and its effect on neurodevelopment.Methods: This was a time bound study; duration being one year from September, 2018 to September 2019. All new patients with acute seizures or status epilepticus admitted in paediatric emergency ward were evaluated and those meeting inclusion criteria were enrolled. On the basis of history, neurological and systemic examination and available investigations primary diagnosis of epilepsy was reached. Neurodevelopmental parameters like vision, hearing, and DQ were assessed. EEG was done in all patients. Other relevant investigations like neuroimaging were carried out when indicated. Collected data was analysed in form of frequency and percentage.Results: A total of 52 patients were enrolled. 60% patients were younger than 2 years. Maximum patients had generalised convulsions; generalised tonic-clonic being the most prevalent. 38% patients had significant perinatal complications like perinatal asphyxia, pyogenic meningitis and kernicterus. Fifty per cent patients had delayed milestones and half of those had severe delay. 67% had abnormal EEG and 20 patients had abnormal neuro-imaging findings. The most common etiologies for epilepsy were hypoxic ischaemic encephalopathy, idiopathic, epilepsy syndromes, metabolic disorders and CNS infections.Conclusions: Majority of early childhood epilepsy is a result of either genetic conditions or perinatal events. They have neurodevelopmental and behavioural associations. While treating epilepsy all these factors should be considered in order to ensure a near-normal life for these patients.

Background: In case of paediatric epilepsy, parents are responsible for providing medicines, round the clock care to the child, while also sustaining their own needs and expectations from life. Socioeconomic status, interaction with healthcare workers, and the level of monetary and emotional support from external agencies play an important role in modelling the quality of life of these parents. The authors’ objective was to assess the quality of life of parents of children suffering from epilepsy and evaluate the influence of demographic and clinical variables. Methods: We conducted a cross-sectional analytical study at the out-patient department of our hospital. We recruited parents of epileptic children and those of children not suffering from any chronic illness and elicited demographic data, clinical history of illness, and QOL using the Quality of Life in the Child’s Chronic Disease Questionnaire of parents in both groups followed by analysis of the data by applying appropriate statistical tests. We used Student t- test to find the significance of data on continuous scale and Chi-square test for discrete variables. One-way ANOVA test was performed to find the influence of various variables on QOL of parents. Results: Male child, female caregiver, Hindu religion, illiterate parent, low monthly family income, residence in rural areas, GTCS type of seizure, frequent seizures during the day, and multiple medications negatively affected the QOL of parents. Conclusions: To provide holistic care to epileptic children, we need to integrate and provide social, occupational, emotional, and financial help to their parents in an acceptable, affordable, and sustainable way.

Background:Neonatal hyperekplexia is a rare nonepileptiform disorder characterized by an exaggerated startle reflex associated with generalized hypertonia. We report a newborn with mutation in the glycinergic inhibition pathway resulting in hyperekplexia, associated with features of arthrogryposis multiplex congenita.Clinical Description:A 3-day-old newborn born at term vaginally cried immediately after birth and presented with lethargy, poor cry, and abnormal clonic movements of all four limbs. On examination, there was hyperreflexia and hypertonia in all four limbs along with dislocation of the right knee joint. Blood investigations, including tandem mass spectrometry, serum ammonia, serum, and cerebrospinal fluid glycine levels, were normal, ruling out inborn errors of metabolism responsible for hyperekplexia and arthrogryposis. The magnetic resonance imaging (MRI) brain and electroencephalogram were normal, while the MRI spine showed kyphosis. The genetic evaluation showed heterozygous missense mutation in exon 6 of the SLC6A9 gene and homozygous mutation in the TOR1A gene, which explained the hyperekplexia and the arthrogryposis multiplex congenita.Management and Outcome:The patient received supportive care. Oral clonazepam and levetiracetam were started in view of hypertonia and clonic spasms. Feeding was given by intragastric tube as he had poor suck–swallow coordination.Conclusions:This case highlights an interesting and extremely rare combination of hereditary hyperekplexia and arthrogryposis multiplex congenita existing together in the same patient, confirmed by the corroborating genetic mutations. Awareness of such conditions among pediatricians is essential to order appropriate genetic evaluations and treatment accordingly.

Background: Perinatal asphyxia remains an important cause of neonatal mortality, morbidity and sequelae especially in developing countries. Prevalence of perinatal asphyxia is 1 to 6 per 1000 live births while incidence of hypoxic-ischemic injury is 0.3 to 2 per 1000 term infants. There was a need to identify neonates with asphyxia at risk for hypoxic ischemic encephalopathy and multi-organ dysfunction using simple bedside tests. The objectives of the study were to evaluate the efficacy of uric acid to creatinine (UA/Cr) ratio in early spot urine samples as a diagnostic tool for perinatal asphyxia and to assess the relationship between urinary UA/Cr ratio and severity of HIE.Methods: This study was conducted on 49 neonates having asphyxia (cases) and 49 neonates without asphyxia (controls) born at a tertiary care hospital over 12 months. Spot urine samples were collected within 24 hours of life and sent for analysis. A UA/Cr ratio of >2.51 was taken as cut-off value.Results: The urinary UA/Cr ratio was found to be higher in asphyxiated infants (2.88±1.01) as compared to the control group (1.72±0.7, p<0.001). UUA/Cr ratio was significantly higher in infants with HIE stage 3 (3.65±1.4) as compared to infants with HIE stage 2 (2.62±0.76) and HIE stage 1 (2.71±0.4) (p<0.009). The cut-off UUA/Cr value of >2.51 has 71.43% sensitivity and 93.88% specificity.Conclusions: The UUA/Cr ratio is a simple and reliable screening test for early diagnosis and assessment of perinatal asphyxia.

Background: Thalassemia major is a chronic hematological disorder. Regular blood transfusion is the only modality of long-term survival for these patients. This leads to iron overload, the heart being the most severely affected organ. The gold standard for detecting myocardial iron deposition is cardiac MRI. However, very few patients can afford this investigation. Hence, authors carried out this study to find out whether early iron overload can be detected by echocardiography which is a simple and less expensive tool. The objective of this study was to document echocardiographic changes of cardiac iron overload in patients of thalassemia major even before appearance of symptoms.Methods: A comparative cohort study conducted from January 2018 to October 2018 in the Department of Paediatrics of SSG Hospital, and Government Medical College, Vadodara. The case group consisted of 35 patients of Thalassemia major. 35 age and sex matched normal children were selected as controls. Relevant blood investigations were performed in cases. 2-Dimensional M-Mode Echocardiography was performed in both patients and controls. Thalassemia major patients were compared to normal healthy children for various parameters in echocardiography indicating the systolic and diastolic function. Proportion and percentage were calculated for descriptive analysis. Independent t-Test was applied between two groups to find out significance level.Results: For all parameters except End systolic volume and fractional shortening, p values were less than 0.05 which is significant. 85% (30/35) had increase in interventricular septal dimensions (IVSD), 97%(34/35) had increase in posterior wall dimensions (PWD),  82%(29/35) had  increased left ventricular internal diameter diastole(LVIDD), 88%(31/35) had increased left ventricular internal diameter systole (LVIDS), 80%(28/35) had increased E/A RATIO .Ejection fraction was affected in 77%(27/35).This shows that patients of thalassemia major have significant cardiac dysfunction; possibly because of cardiac iron overload.Conclusions: Echocardiography is an effective tool for screening cardiac iron overload in patients of thalassemia major and should be done periodically in all patients.