Background: Research on the interaction of parenting style, parents' mealtime behaviors, and children's eating behavior in the presence of chronic disease is limited. This study aimed to investigate the impact of parenting style and parental mealtime actions on the eating behavior of children with epilepsy.
Methods: Thirty-one children with epilepsy, thirty-one healthy children (aged 4-9 years), and their parents were included.
Background: Dehydrodolichyl diphosphate synthase complex is encoded by mutations in this gene are associated with epilepsy, movement disorders, intellectual and motor disabilities. The clinical picture is commonly identified in children and shows variations in terms of age of onset, severity, seizure types, and types of dyskinesia.
Case: we present a case with a infantile- onset epilepsy and severe global developmental delay, caused by a novel, homozygous variant (c.
Introduction: Anomic aphasia, characterized by difficulty in word finding, is a subtype without impairments in fluent speech, comprehension, reading, writing, and repetition. Recognizing pure anomic aphasia in this group is crucial for a comprehensive understanding of localization and brain functions.
Case Report: We present the case of an 11-year-old girl with transient ischemic attack and anomic aphasia.
Aycan Ünalp, Yiğithan Güzin, Bülent Ünay, Ayşe Tosun, Dilek Çavuşoğlu, Hande Gazeteci Tekin, Semra Hız Kurul, Ebru Arhan, Selvinaz Edizer, Gülten Öztürk, Uluç Yiş, Ünsal Yılmaz, Turkish Rare Epilepsies Study Group, Clinical and genetic evaluations of rare childhood epilepsies in Turkey's national cohort, Epileptic Disorders, 2023, (https://doi.org/10.1002/epd2.
View Article and Find Full Text PDFObjective: The pathophysiology of epilepsy remains unknown. Recent research has shown that microRNA expression changes in epileptic adults. In the present work, we aimed to identify serum microRNA expression in drug-responsive and resistant children with idiopathic general- ized epilepsy.
View Article and Find Full Text PDFBackground: We aimed to evaluate the clinical findings and electroencephalographic (EEG) characteristics of patients with juvenile absence epilepsy (JAE) and to determine the factors that predict response to antiseizure medications (ASMs) in JAE.
Methods: We reviewed the medical records of 29 patients with JAE. The patients who were seizure-free during the last 12 months of their follow-up and who did not have generalized spike waves on their last EEG were considered as the treatment-responsive group, and the patients whose clinical seizures persisted during the last 12 months of their follow-up or who had generalized spike waves on their follow-up EEGs were considered as patients who did not respond to ASMs.
Primary diffuse leptomeningeal oligodendrogliomatosis is a rare fatal tumor of childhood. Symptoms usually occur when the tumor causes hydrocephalus. Brain magnetic resonance imaging (MRI) may be nearly normal in the early stages of the disease, while hydrocephalus and multiple leptomeningeal cysts with spongiform appearance may appear later on.
View Article and Find Full Text PDFJ Coll Physicians Surg Pak
May 2022
Friedreich's ataxia (FA) is a rare, progressive, and degenerative hereditary disorder caused by a deficiency of frataxin protein. This disease is characterised by severe neurological dysfunction and life-threatening cardiomyopathy. Various drugs are used to slow down / stop the neurodegenerative progress.
View Article and Find Full Text PDFBackground: Mutations in the cytoplasmic dynein 1 heavy chain gene (DYNC1H1) have been associated with spinal muscular atrophy with predominant lower extremity involvement (SMA-LED), Charcot-Marie-Tooth 2O (CMT2O) disease, cortical migration anomalies, and autosomal dominant mental retardation13. SMA-LED phenotype-related mutation was found in the DYNC1H1 gene in the patient who applied with the complaint of gait disturbance.
Methods: Pathogenic heterozygous c.
Children with chronic neurological diseases, including cerebral palsy (CP), are especially susceptible to vaccine-preventable infections and face an increased risk of severe respiratory infections and decompensation of their disease. This study aims to examine age-appropriate immunization status and related factors in the CP population of our country. This cross-sectional prospective multicentered survey study included 18 pediatric neurology clinics around Turkey, wherein outpatient children with CP were included in the study.
View Article and Find Full Text PDFObjectives: Diagnostic process of mitochondrial disorders (MD) is challenging because of the clinical variability and genetic heterogeneity of these conditions. Next-Generation Sequencing (NGS) technology offers a high-throughput platform for nuclear MD.
Methods: We included 59 of 72 patients that undergone WES and targeted exome sequencing panel suspected to have potential PMDs.
Purpose: To compare the effects of chloral hydrate and melatonin on sleep EEG recordings in children by using standard EEG sleep stages and the bispectral index scores (BIS).
Methods: A total of 86 children were randomly assigned to two groups: (1) melatonin group (n = 43) and (2) chloral hydrate group (n = 43). BIS monitoring scores and sleep EEGs were recorded simultaneously.
Objective: It is argued that early and adequate treatment of electrical status epilepticus in sleep (ESES) is essential to preserve cognitive functions and possibly recovering lost skills. Although antiepileptic drugs (AEDs) are effective in ESES, there is not much experience in the use of sulthiame. In this study, we aimed to examine the efficiency and tolerability of sulthiame in ESES.
View Article and Find Full Text PDFPrimary diffuse leptomeningeal oligodendrogliomatosis is a rare fatal tumor of childhood. Symptoms usually occur when the tumor causes hydrocephalus. Brain magnetic resonance imaging (MRI) may be nearly normal in the early stages of the disease, while hydrocephalus and multiple leptomeningeal cysts with spongiform appearance may appear later on.
View Article and Find Full Text PDFIntroduction And Purpose: Neuronal ceroid lipofuscinoses (NCLs) is a group of congenital metabolic diseases where the neurodegenerative process with the accumulation of ceroid and lipofuscin autofluorescent storage materials is at the forefront. According to the age of presentation, NCLs are classified as congenital, infantile (INCL), late infantile (LINCL), juvenile (JNCL), and adult (ANCL) NCLs. In our study, it was aimed to discuss the clinical and molecular characteristics of our patients diagnosed with NCL.
View Article and Find Full Text PDFPurpose/aim: Ehlers-Danlos syndrome (EDS) is a hereditary connective tissue disease. Epilepsy is not a common neurological finding in EDS. Here we report a pediatric patient with EDS comorbid with related epileptic encephalopathy as 'electrical status epilepticus during slow-wave sleep (ESES)' and whose refractory epileptic seizures were controlled with ketogenic diet.
View Article and Find Full Text PDFGazeteci-Tekin H, Demir M, Aktan G, Tekgül H, Gökben S. The case of pyridoxine dependent epilepsy misdiagnosed as non-ketotic hyperglycinemia. Turk J Pediatr 2019; 61: 599-603.
View Article and Find Full Text PDFAutoimmune encephalitis should be excluded in unexplained encephalitis. A significant portion of autoimmune encephalitis in childhood is anti- NMDA encephalitis. However, neuroimaging and routine diagnostic tests are inadequate, diagnosis sholud be confirmed by the demonstration of autoantibodies.
View Article and Find Full Text PDFCamphor is a cyclic ketone of the hydro aromatic terpene group. Today it is frequently used as a prescription or non-prescription topical antitussive, analgesic, anesthetic and antipruritic agent. Camphor which is considered an innocent drug by parents and physicians is a common household item which can lead to severe poisoning in children even when taken in small amounts.
View Article and Find Full Text PDFPurpose: To evaluate the clinical features and treatment results of the primary paravertebral malignant tumors (PMTs) in our department.
Methods: Medical records of 28 children with primary PMTs treated between 1988-2007 were analyzed retrospectively.
Results: Primary PMTs constituted 4.