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.

Comparative Efficacy of Ferrous, Ferric and Liposomal Iron Preparations for Prophylaxis in Infants.

Objective: This study aimed to assess the efficacy of different oral iron preparations prescribed for prevention of iron deficiency anemia in healthy infants.

Methods: This retrospective study enrolled infants aged between 6 and 12 months who were initiated on iron prophylaxis at four months of age. Enrolled children consistently used specific iron preparations (ferrous, ferric or liposomal iron) and had their complete blood counts and serum ferritin levels assessed within the 6-12 month timeframe.

A Multicenter Study of Self-Limited Epilepsy With Centrotemporal Spikes: Effectiveness of Antiseizure Medication With Respect to Spike-Wave Index.

Background: There is no certain validated electroencephalographic (EEG) parameters for outcome prediction in children with self-limited epilepsy with centrotemporal spikes. To assess the effectiveness of antiseizure medication (ASM) for seizure outcome with respect to the spike-wave index (SWI) on serial EEG recordings.

Methods: In this multicenter study, the study cohort consisted of 604 children with self-limited epilepsy with centrotemporal spikes.

Perspectives of Family Caregivers of People With Alzheimer's Disease on Caregiving Experience and Needs: A Qualitative Study.

The current study aimed to investigate the perspectives of family caregivers of people with Alzheimer's disease on caregiving experience and needs. A qualitative descriptive method was used with a sample of 23 family caregivers. Data were collected through in-depth, face-to-face interviews using a pilot-tested semi-structured interview guide.

Shared Biological Pathways and Processes in Patients with Intellectual Disability: A Multicenter Study.

Background: Although the underlying genetic causes of intellectual disability (ID) continue to be rapidly identified, the biological pathways and processes that could be targets for a potential molecular therapy are not yet known. This study aimed to identify ID-related shared pathways and processes utilizing enrichment analyses.

Methods: In this multicenter study, causative genes of patients with ID were used as input for Disease Ontology (DO), Gene Ontology (GO), and Kyoto Encyclopedia of Genes and Genomes enrichment analysis.

Clinical and genetic spectrum from a prototype of ciliopathy: Joubert syndrome.

Objective: Joubert syndrome is a neurodevelopmental disorder with a distinctive hindbrain malformation called molar tooth sign, causing motor and cognitive impairments. More than 40 genes have been associated with Joubert syndrome. We aim to describe a group of Joubert syndrome patients clinically and genetically emphasizing organ involvement.

Compatibility levels between blood gas analysis and central laboratory hemoglobin and electrolyte tests in pediatric patients: A single-center experience.

Introduction: We aimed to evaluate the interchangeability of sodium, potassium, hemoglobin, and hematocrit measurement between the blood gas analyzers and laboratory automatic analyzers results.

Methods: This was a retrospective cross-sectional study. The results of 1927 paired samples analyzed simultaneously with the blood gas analyzer and the laboratory automatic analyzer were compared.

First case with RANBP2 biallelic mutation and severe acute necrotizing encephalopathy phenotype.

Familial acute necrotizing encephalopathy (ANE) is a rapidly progressive encephalopathy that can occur after common viral infections at different stages of life. The clinical findings of 2 siblings diagnosed with ANE were shared and the whole-exome-sequencing study of the index case was performed. It was confirmed by the Sanger method.

The association of vitamin D deficiency with hemogram-derived inflammatory biomarkers in children.

Background And Aims: One of the extraosseous effects of vitamin D is that it is a potent modulator of inflammatory processes. Many studies have demonstrated the inverse association between vitamin D and inflammation. Therefore, we hypothesize that vitamin D deficiency may affect the inflammatory markers derived from hemogram parameters [neutrophil to lymphocyte ratio (NLR), platelet to lymphocyte ratio (PLR), lymphocyte to monocyte ratio (LMR), platelet distribution width (PDW), red blood cell distribution width (RDW)] in healthy children.

Clinical, Genetic, and Outcome Characteristics of Pediatric Patients with Primary Hemophagocytic Lymphohistiocytosis.

Objective: In this study, we sought to describe the clinical, laboratory, and genetic character- istics of patients diagnosed with primary hemophagocytic lymphohistiocytosis. Thus, we aimed to evaluate the early diagnosis and appropriate treatment options for pediatric hemophago- cytic lymphohistiocytosis patients.

Materials And Methods: Medical records of 9 patients diagnosed with primary hemophago- cytic lymphohistiocytosis between November 2013 and December 2019 were analyzed retro- spectively.

Brain Magnetic Resonance Imaging Findings of Pediatric Hemophagocytic Lymphohistiocytosis Could Be Diagnostic and Life-Saving.

Background: Hemophagocytic lymphohistiocytosis (HLH) is a rare and fatal disease and may also present with central nervous system findings at the beginning without specific diagnostic criteria. Brain magnetic resonance imaging (MRI) findings are diverse and can also be diagnostic. We aimed to emphasize the importance of brain MRI findings in the early diagnosis of this fatal disease.

The effectiveness and tolerability of clobazam in the pediatric population: Adjunctive therapy and monotherapy in a large-cohort multicenter study.

Objective: To evaluate the effectiveness and tolerability of clobazam therapy in the pediatric population in terms of seizure semiology, epileptic syndromes, and etiological subgroups.

Methods: A retrospective cohort study was conducted consisting of 1710 epileptic children from eight centers in seven geographic regions of Turkey. The initial efficacy of clobazam therapy was evaluated after three months of treatment.

Epileptic encephalopathy with electrical status epilepticus during slow sleep: evaluation of treatment response from a tertiary center.

Background: This study aimed to evaluate the clinical, electrophysiological, etiological features, and treatment response in children with epileptic encephalopathy with electrical status epilepticus during slow sleep (ESES).

Methods: Clinical data, records of electroencephalograms (EEG), and brain magnetic resonance imaging (MRI) findings of 33 patients with ESES who were treated, and followed up for at least one year were retrospectively analyzed.

Results: Of all patients, 57.

Trends in the choice of antiseizure medications in juvenile myoclonic epilepsy: A retrospective multi-center study from Turkey between 2010 and 2020.

Purpose: Valproic acid (VPA) is frequently used and effective in juvenile myoclonic epilepsy (JME). Recently, levetiracetam (LEV) has been suggested as a monotherapy in JME. This study aimed to evaluate antiseizure medication (ASM) use in patients with JME.

A Rare Cause of Globus Pallidus and Dentate Nucleus Hyperintensity in Childhood: MBOAT Mutation.

Mutations in mammalian membrane-bound O-acyltransferase domain-containing (MBOAT) 7 gene are a rare cause for intellectual disability, developmental delay, autistic findings, epilepsy, truncal hypotonia with appendicular hypertonia, and below-average head sizes. Pathogenic variants in MBOAT7 gene show these nonspecific clinical features that are seen in many other neurometabolic diseases. Therefore, specific neuroimaging findings can be valuable key factors for differential diagnosis.

Evaluation of immunization status in patients with cerebral palsy: a multicenter CP-VACC study.

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.

Evaluation of the Etiology, Clinical Presentation, Findings and Prophylaxis of Children with Headache.

Objectives: A headache is prevalent in childhood and constitutes a significant part of outpatient applications. This study aimed to evaluate the results of etiology, clinical features, examination results, prophylactic treatment and follow-up in patients with a headache.

Methods: Between January 2017 and December 2018, the files of the patients with the complaint of headache were reviewed retrospectively in this study.

Effects of sulthiame on seizure frequency and EEG in children with electrical status epilepticus during slow sleep.

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.

Acute flaccid myelitis outbreak through 2016-2018: A multicenter experience from Turkey.

Aim: We aim to describe the demographic characteristics, etiology, neurophysiology, imaging findings, treatment, prognosis, and prognostic factors of acute flaccid myelitis.

Methods: The clinical data, laboratory test and, magnetic resonance imaging (MRI) results of pediatric patients diagnosed with acute flaccid myelitis according to the Centers for Disease Control criteria between August 1, 2016, and December 31, 2018, from 13 centers in Turkey were reviewed.

Results: Of the 34 cases identified, 31 were confirmed (91.

Smith-Magenis Syndrome: Clues in the Clinic.

As a multisystemic congenital mental retardation disorder/anomaly, Smith-Magenis syndrome (SMS) is commonly aroused from de novo interstitial deletion of the 17p11.2 chromosome. The deletion of this chromosome results with haploinsufficiency for the retinoic acid-induced 1 ( ) gene.

Clinical features and the role of magnetic resonance imaging in pediatric patients with intracranial hypertension.

Increased intracranial hypertension (IIH) is a defined clinical condition; however, an unsolved pathophysiologic background usually creates problems in its diagnosis and proper approach. The aim of this study was to emphasize the clinical conditions and brain magnetic resonce imaging (MRI) clues of pediatric patients, especially this clinical entity with high morbidity. Here, we review the etiology, clinical presentation, brain MRI findings, and prognosis of IIH in children.