Deepa Sirsi - Academia.edu (original) (raw)

Papers by Deepa Sirsi

1Department of Pediatric Neurology, University of Texas Southwestern Medical Center, Dallas, Texa... more 1Department of Pediatric Neurology, University of Texas Southwestern Medical Center, Dallas, Texas, United States 2San Jorge Children’s Hospital and Hospital San Francisco, San Juan, Puerto Rico, United States 3Department of Pediatric Psychology, Children’s Medical Center, Dallas, Texas, United States 4Department of Pathology and the Eugene McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center, Dallas, Texas, United States

The Journal of pediatrics, 2020

Journal of Clinical Medicine, 2020

The goal of this project was to evaluate if severity of electroencephalogram (EEG) during or shor... more The goal of this project was to evaluate if severity of electroencephalogram (EEG) during or shortly after being placed on extracorporeal membrane oxygenation (ECMO) would correlate with neuroimaging abnormalities, and if that could be used as an early indicator of neurologic injury. This was a retrospective chart review spanning November 2009 to May 2018. Patients who had an EEG recording during ECMO or within 48 hours after being decannulated (early group) or within 3 months of being on ECMO (late group) were included if they also had ECMO-related neuroimaging. In the early EEG group, severity of the EEG findings of mild, moderate, and severe EEG correlated to mild, moderate, and severe neuroimaging scores. Patients on venoarterial (VA) ECMO were noted to have higher EEG and neuroimaging severity; this was statistically significant. There was no association in the late EEG group to neuroimaging abnormalities. Our study highlights that EEG severity can be an early predictor for neu...

Journal of Psychology and Psychiatry

Epilepsy and Autism Spectrum Disorder (ASD) are frequently co-morbid conditions. There are no cle... more Epilepsy and Autism Spectrum Disorder (ASD) are frequently co-morbid conditions. There are no clear testing modalities or biomarkers to distinguish children with ASD who are at risk for developing epileptic seizures from those who are not. Epileptiform electroencephalogram (EEG) abnormalities are common in children with ASD, suggesting a possible shared underlying pathophysiology with epilepsy. Our study analysed EEGs in children with ASD who underwent serial EEG studies. We show that initial EEG classification was a significant prognosticator for future EEG findings (p < 0.0001). Our study failed to demonstrate a statistically significant difference in the presence of epileptiform EEGs in children with ASD and co-morbid epilepsy as compared to those without co-morbid epilepsy. Furthermore, analysis of children with ASD and developmental regression or ASD and language impairment failed to demonstrate statistically significant differences in presence of epileptiform EEG abnormalities. Together these findings suggest that repeat EEGs should be obtained on a case-by-case basis in children with ASD and epileptiform EEG abnormalities in ASD in the absence of convincing epileptic seizures should be cautiously interpreted.

European Journal of Human Genetics

CYFIP2, encoding the evolutionary highly conserved cytoplasmic FMRP interacting protein 2, has pr... more CYFIP2, encoding the evolutionary highly conserved cytoplasmic FMRP interacting protein 2, has previously been proposed as a candidate gene for intellectual disability and autism because of its important role linking FMRP-dependent transcription regulation and actin polymerization via the WAVE regulatory complex (WRC). Recently, de novo variants affecting the amino acid p.Arg87 of CYFIP2 were reported in four individuals with epileptic encephalopathy. We here report 12 independent patients harboring a variety of de novo variants in CYFIP2 broadening the molecular and clinical spectrum of a novel CYFIP2-related neurodevelopmental disorder. Using trio whole-exome or-genome sequencing, we identified 12 independent patients carrying a total of eight distinct de novo variants in CYFIP2 with a shared phenotype of intellectual disability, seizures, and muscular hypotonia. We detected seven different missense variants, of which two occurred recurrently (p.(Arg87Cys) and p.(Ile664Met)), and a splice donor variant in the last intron for which we showed exon skipping in the transcript. The latter is expected to escape nonsense-mediated mRNA decay resulting in a truncated protein. Despite the large spacing in the primary structure, the variants spatially cluster in the tertiary structure and are all predicted to weaken the interaction with WAVE1 or NCKAP1 of the actin polymerization regulating WRC-complex. Preliminary genotype-phenotype correlation indicates a profound phenotype in p.Arg87 substitutions and a more variable phenotype in other alterations. This study evidenced a variety of de novo variants in CYFIP2 as a novel cause of mostly severe intellectual disability with seizures and muscular hypotonia.

Journal of Pediatric Epilepsy, 2017

Pediatric Neurology, 2015

$Research paper thumbnail of Successful Management of Refractory Neonatal Seizures With Midazolam$

Journal of Child Neurology, 2007

Seizures are indicative of underlying neurologic dysfunction in neonates. Repeated seizures may b... more Seizures are indicative of underlying neurologic dysfunction in neonates. Repeated seizures may be deleterious to the brain even without disturbances of ventilation or perfusion. First-line antiepileptic drugs such as phenobarbital and phenytoin are not very effective in controlling seizures in neonates. Rapid control of status epilepticus with midazolam has been demonstrated in 2 previous studies with complete clinical and electrographic response in neonates who did not respond to phenobarbital and phenytoin. We report our experience with 3 neonates with status epilepticus. Seizures in all 3 neonates did not respond to phenobarbital and phenytoin but responded to midazolam infusion. Midazolam may be considered a safe and effective antiepileptic drug in refractory neonatal seizures of diverse etiologies.

Expert Opinion on Drug Safety, 2007

Levetiracetam is an antiepileptic drug approved for use as an adjunct agent in partial-onset seiz... more Levetiracetam is an antiepileptic drug approved for use as an adjunct agent in partial-onset seizures in adults and children aged &amp;gt; or = 4 years. It was also approved as adjunctive therapy in the treatment of adults and adolescents aged &amp;gt; or = 12 years with juvenile myoclonic epilepsy. A parenteral intravenous formulation has recently become available allowing for its use when oral administration is temporarily not feasible. Available literature has demonstrated and supported that levetiracetam has an acceptable safety profile and this review discusses the safety profile of levetiracetam, with attention to special populations. The most common adverse effects are somnolence, asthenia and dizziness, which usually appear early after initiation of levetiracetam therapy and generally resolve without medication withdrawal. The most serious adverse effects are behavioral in nature and are more common in children and in patients with a prior history of behavioral problems.

CNS Drugs, 2010

Childhood epilepsy continues to be intractable in more than 25% of patients diagnosed with epilep... more Childhood epilepsy continues to be intractable in more than 25% of patients diagnosed with epilepsy. The introduction of new anti-epileptic drugs (AEDs) provides more options for treatment of children with epilepsy. We review the safety and tolerability of seven new AEDs (levetiracetam, lamotrigine, oxcarbazepine, ruinamide, topiramate, vigabatrin and zonisamide) focusing on their side effect proiles and safety in children and adolescents. Many considerations that are speciic for children such as the impact of AEDs on the developing brain are not addressed during the development of new AEDs. They are usually approved as adjunctive therapies based upon clinical trials involving adult patients with partial epilepsy. However, 2 of the AEDs reviewed here (ruinamide and vigabatrin) have FDA approval in the U.S. for speciic Pediatric epilepsy syndromes, which are discussed below. The Pediatrician or Neurologists decision on the use of a new AED is an evolutionary process largely dependent on the patient characteristics, personal/peer experiences and literature about eficacy and safety proiles of these medications. Evidence based guidelines are limited due to a lack of randomized controlled trials involving pediatric patients for many of these new AEDs.

Clinical Neurophysiology, 2007

Pediatric Neurology, 2007

A right temporal lobe hemorrhage with resulting apneic seizures was described previously in one n... more A right temporal lobe hemorrhage with resulting apneic seizures was described previously in one neonate. In this case report, we review three full-term male neonates with no significant perinatal complications who presented with apneic events and temporal lobe hemorrhage. One neonate had apnea as the sole manifestation of a seizure that was confirmed electrographically. One neonate had motor manifestations of seizures, in addition to apnea, that were confirmed as seizures electrographically. The third neonate had pure apneic events before initiation of electroencephalogram monitoring which were presumed to be seizures, because the electroencephalogram demonstrated epileptiform abnormalities. At follow-up, all three children were neurodevelopmentally normal. This case report emphasizes that, although uncommon, full-term neonates may present with apnea as the initial manifestation of temporal lobe hemorrhage. Because apnea could be a manifestation of a seizure, continuous electroencephalogram monitoring should be considered in a full-term neonate with unexplained apnea.