Evaluation of seizure semiology, genetics, magnetic resonance imaging, and electroencephalogram findings in children with Rett syndrome: A multicenter retrospective study.

Objectives: This study aimed to evaluate seizure semiology, electroencephalogram (EEG), magnetic resonance imaging (MRI), and genetic findings, as well as treatment choices in Rett syndrome (RTT).

Methods: A retrospective analysis was conducted on one hundred and twenty cases diagnosed with RTT with a genetic mutation. Data were obtained from nine participating centers.

Impact of eating habits and nutritional status on children with autism spectrum disorder.

Objectives: Obesity is common among children with Autism Spectrum Disorder (ASD). They suffer more feeding problems than children with normal developmental milestones. Several kinds of diet are recommended for children with ASD.

Play interactions of parents toward children with autism spectrum disorder: NeuroPLAY parent play behavior assessment scale.

Problem: The aim of this study is to analyze the changes that NeuroPLAY, which is an intensive early intervention method for children with autism spectrum disorder (ASD) and ages of 12-42 months, has created in the play skills of the parents of children with ASD by using method strategies.

Methods: The study cohort includes 91 children ages ranging from 18 to 42 months old. The study is designed for repetitive measurements performed pre- and post-intervention.

Autism in Turkey: demographics, behavior problems, and accompanying medical conditions in a sample of Turkish youth with autism spectrum disorder.

Autism spectrum disorder (ASD) is an etiologically heterogeneous neurodevelopmental condition that eludes a single explanation or cure. Epidemiological studies reveal risk factors, relevant comorbidities, and behavioral correlates to reach a better understanding of ASD. To contribute such data from an understudied ASD population, this paper presents epidemiological data from a Turkish sample of individuals with ASD ( = 911, 748 boys (82.

Evaluation of the prognostic factors in school age children who experienced neonatal seizures.

Background: This prospective study aimed to evaluate long-term neurodevelopmental outcomes and risk factors of the previously reported cohort, at their school age.

Method: We included neonates whose seizures were directly observed by the child neurologist or neonatologist based on clinical observations. They were assessed for cognitive and neurological outcomes at the age of 9-11 years.

Utilization of neurosonography for evaluation of the corpus callosum malformations in the era of fetal magnetic resonance imaging.

Aim: We evaluated the ability of fetal neurosonography and magnetic resonance imaging (MRI) to asses callosal anomalies (CA) and associated cranial malformations. We also aimed to determine the long-term prognosis of the cases.

Methods: Thirty-six cases of CA diagnosed combined with neurosonography and MRI between January 2012 and October 2017 were retrospectively reviewed.

Efficacy of rufinamide in childhood refractory epilepsy.

Yıldız EP, Hızlı Z, Bektaş G, Ulak-Özkan M, Tatlı B, Aydınlı N, Çalışkan M, Özmen M. Efficacy of rufinamide in childhood refractory epilepsy. Turk J Pediatr 2018; 60: 238-243.

Short-term neurological outcomes in ischemic and hemorrhagic pediatric stroke.

Background: The aim of this study was to retrospectively assess short-term neurological outcomes in pediatric stroke with regard to patient characteristics.

Methods: Children aged 28 days-18 years with arterial ischemic stroke (AIS), cerebral sinovenous thrombosis (CSVT), and hemorrhagic stroke (HS) between 2007 and 2013 were evaluated. Neurological findings in the first 3 months were accepted as short-term prognosis, and modified Rankin scale was used.

Efficacy of Stiripentol and the Clinical Outcome in Dravet Syndrome.

Dravet syndrome is a rare and progressive epileptic encephalopathy of infancy. Stiripentol reduces the seizure frequency in patients with Dravet syndrome. We evaluated the clinical characteristics of patients with Dravet syndrome and their response to stiripentol.

Spinal muscular atrophy with progressive myoclonic epilepsy linked to mutations in ASAH1.

Spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME), a rare disorder caused by mutation in the ASAH1 gene, is characterized by progressive muscle weakness and intractable epilepsy. The literature about SMA-PME is very rare and most of the time limited to case reports. Mutation in the ASAH1 gene is also found in another rare syndrome which is Farber disease.

Predictive factors of drug-resistant epilepsy in children presenting under 2 years of age: experience of a tertiary center in Turkey.

Population-based studies report that children with epilepsy have relatively better prognosis than those with an onset at infancy, though studies about this period are limited. We aimed to evaluate the etiology in infant epilepsy less than 2 years of age and foreseeable risk factors for anti-epileptic drug resistance. We evaluated the patients who were presented to the division of pediatric neurology in our university hospital with seizures when they were between 1 and 24 months of age and diagnosed as epilepsy.

Non epileptic paroxysmal events in childhood.

Non epileptic paroxysmal events are recurrent movement disorders with acute onset and ending, which may mimic epilepsy. The duration, place, timing of the attacks, and state of conciousness may confuse pediatricians about the diagnosis of epilepsy and non epileptic paroxysmal events. The key point in the diagnosis is taking an accurate and detailed history.

Psychosocial and behavioral functioning and their relationship to seizure timing in children with benign epilepsy with centrotemporal spikes.

Background: Psychosocial and behavioral problems have been reported in children with benign epilepsy with centrotemporal spikes (BECTS). Distinctive features of typical BECTS associated with cognitive and behavioral problems have not clearly been defined.

Purpose: We aimed to identify psychosocial and behavioral functioning and their relationship to seizure timing in BECTS.

Ataxia telangiectasia in Turkey: multisystem involvement of 91 patients.

Background: Ataxia telangiectasia (AT) is a genetically based multisystemic disorder. We aimed to make a comprehensive evaluation of multisystem involvement in AT by describing clinical features and outcome of 91 patients.

Methods: Medical records of the patients who were diagnosed and followed by a multidisciplinary approach during a 27-year period (1988-2015) were reviewed retrospectively.

The comparison of general movements assessment and neurological examination during early infancy.

This prospective single-blinded study was performed to evaluate general movements (GMs) in group of high-risk, low-birth-weight and preterm infants and to compare results with neurologic examination. All infants' neurologic examinations, Gross Motor Function Measurement (GMFM) and Bayley-III Scale were performed at the corrected age of 12 months. A total of 22 infants were included.

Neonatal hypoxic ischemic encephalopathy: an update on disease pathogenesis and treatment.

Hypoxic ischemic encephalopathy (HIE) is the most important reason for morbidity and mortality in term-born infants. Understanding pathophysiology of the brain damage is essential for the early detection of patients with high risk for HIE and development of strategies for their treatments. Areas covered: This review discusses pathophysiology of the neonatal HIE and its treatment options, including hypothermia, melatonin, allopurinol, topiramate, erythropoietin, N-acetylcyctein, magnesium sulphate and xenon.

Coexisting neuronal autoantibodies among children with demyelinating syndromes.

Objectives: To determine the incidence and clinical relevance of neuronal autoantibodies in children with demyelinating syndromes.

Methods: We conducted a prospective study including 31 consecutive children with demyelinating syndromes. Four patients with N-Methyl-D-aspartate receptor (NMDAR) encephalitis, 32 patients with Guillain-Barre syndrome, 13 children with benign childhood epilepsy, and 28 healthy children were used as controls.

Aggravation of atonic seizures by rufinamide: A case report.

Background: Rufinamide is a novel antiepileptic drug used as adjunctive therapy in patients with Lennox-Gastaut syndrome and provides seizure control especially in tonic and atonic seizures. Rufinamide is expected to be effective in intractable epilepsy when atonic and tonic seizures exist. However, rufinamide induced seizure aggravation has been reported in a few patients, which was not associated with a specific type of seizure.

Role of Autoantibodies to N-Methyl-d-Aspartate (NMDA) Receptor in Relapsing Herpes Simplex Encephalitis: A Retrospective, One-Center Experience.

Post-herpes simplex virus encephalitis relapses have been recently associated with autoimmunity driven by autoantibodies against N-methyl-d-aspartate (NMDA) receptors. Because it offers different treatment options, determination of this condition is important. Between 2011 and 2014, 7 children with proven diagnosis of herpes simplex virus encephalitis were identified in a university hospital of Istanbul.

A tertiary care center's experience with febrile seizures: evaluation of 632 cases.

Background: The aim of this paper was to evaluate demographic and prognostic features of febrile seizures (FSs) in a tertiary center in Turkey.

Methods: A retrospective study of 632 children with FS was conducted from January 1995 to January 2002 in the pediatric neurology and general pediatrics departments of Istanbul University, Istanbul Medical School. Patients data was collected and eligible patients were included in the study.

Atypical presentation of human bocavirus: Severe respiratory tract infection complicated with encephalopathy.

Human bocavirus (HBOV) has been reported as a worldwide distributed respiratory pathogen. It has also been associated with encephalitis recently by detection of the virus in cerebrospinal fluid (CSF) of patients presented with encephalitis. This retrospective study aimed to present clinical features of HBOV infections in children with respiratory symptoms and describe unexplained encephalopathy in a subgroup of these patients.

Rare vascular pathology sinus pericranii; becomes symptomatic with pseudotumor cerebri.

Sinus pericranii (SP) is an uncommon vascular pathology that is characterized by a nodular structure emerging from the scalp. It is generally asymptomatic. Typically, it is aclose to soft, compressive, fluctuant swelling, intracranial sinus.

A Rare Form of Guillan Barre Syndrome: A Child Diagnosed with Anti-GD1a and Anti-GD1b Positive Pharyngeal-Cervical-Brachial Variant.

Background: Pharyngeal-cervical-brachial (PCB) variant is a rare form of Guillan-Barre Syndrome (GBS). Antibodies against other membrane proteins like GM1b and GD1a have been found only in a small number of patients with Guillan Barre syndrome variant.

Case Report: Here, we report a 5.

Therapeutic plasma exchange for malignant refractory status epilepticus: a case report.

Background: Refractory status epilepticus is a prolongation of status epilepticus despite anticonvulsant therapy with two or three medications in proper doses; it is defined as malignant status epilepticus if it takes weeks or months. Intravenous immunoglobulin, high-dose steroids, magnesium infusion, pyridoxine, hypothermia, ketogenic diet, electroconvulsive therapy, and surgical therapy are the other treatment options for status epilepticus.

Patient: Our 5-year-old male patient was hospitalized at our pediatric intensive care unit because of status epilepticus secondary to meningoencephalitis.