Cerebellar Hypoplasia and Treatment Course of a Two-Month-Old Infant With KCNQ2 Epileptic Encephalopathy Due to a De Novo Variant and Review of the Literature.

In this paper, we report the treatment course, magnetic resonance imaging (MRI), and electroencephalography (EEG) findings of a two-month-old girl with KCNQ2 epileptic encephalopathy caused by a de novo variant. The patient started having seizures 2 days postnatally. Despite treatment with phenobarbital, phenytoin, levetiracetam, topiramate, clonazepam, vigabatrin, clobazam, and pyridoxine, she continued to have 10 or more seizures per day.

Teriflunomide in pediatric patients with relapsing multiple sclerosis: Open-label extension of TERIKIDS.

Background: The double-blind TERIKIDS study demonstrated the efficacy and safety of teriflunomide.

Objective: To evaluate the efficacy, safety, and tolerability of continuous teriflunomide treatment in the TERIKIDS open-label extension.

Methods: In the double-blind period, children with relapsing MS were randomized to placebo or teriflunomide (14 mg adult-equivalent dose) for ⩽ 96 weeks.

Evaluation of neurocognitive and social developments after craniosynostosis surgery.

Objective: The study focused on assessing the potential neurocognitive and social developmental issues in children with non-syndromic craniosynostosis (NSC) who received optimal surgical treatment. The primary objective was to determine whether NSC, even after optimal surgical treatment, could have negative effects on brain development.

Methods: The study included a total of 73 pediatric patients aged between 2 and 6 years who had previously undergone surgery for NSC at the Gazi University Faculty of Medicine, Department of Neurosurgery.

Using the center of pressure movement analysis in evaluating spontaneous movements in infants: a comparative study with general movements assessment.

Background: Researchers have attempted to automate the spontaneous movement assessment and have sought quantitative and objective methods over the past decade. The purpose of the study was to present a quantitative assessment method of spontaneous movement using center-of-pressure (COP) movement analysis.

Methods: A total of 101 infants were included in the study.

Optic neuritis in Turkish children and adolescents: A multicenter retrospective study.

Background: Various etiologies may underlie optic neuritis, including autoantibody-mediated disorders described in the last decade. We re-examined demographic, clinical, laboratory features and prognostic factors in pediatric patients with autoimmune optic neuritis according to current knowledge.

Methods: Cases of pediatric ON from 27 centers in Türkiye diagnosed between 2009 and 2022 were included for retrospective evaluation.

Short-term effects of SAFE early intervention approach in infants born preterm: A randomized controlled single-blinded study.

Objective: Recent literature suggests that goal-oriented and family-based interventions in enriched environment have a beneficial effect on neuromotor and cognitive development. We aimed to examine the short-term effects of SAFE (Sensory strategies, Activity-based motor training, Family collaboration, and Environmental Enrichment) early intervention approach on motor, cognitive, speech and language, and sensory development in preterm infants.

Methods: The study's sample population consisted of 24 preterm infants with corrected ages between 9 and 10 months.

Celiac disease and catatonia: more than a coincidence?

Background: Catatonia is a complex neuropsychiatric disorder involving stupor, waxy flexibility, and mutism lasting more than 1 hour. It has arisen mostly from mental and neurologic disorders. Organic causes are more prominent in children.

ALG11-CDG: novel variant and review of the literature.

Objectives: Asparagine-dependent glycosylation 11-congenital disorders of glycosylation (ALG11-CDG) is a rare autosomal recessive N-glycosylation defect with multisystem involvement particularly neurological symptoms such as epilepsy and neuromotor developmental delay.

Case Presentation: A 31-month-old male patient admitted to our center with complaints of axial hypotonia, drug-resistant myoclonic seizures, microcephaly and deafness. The electroencephalography (EEG) showed a burst-suppression pattern without hypsarrhythmia.

Ultrasensitive Determination of Glial-Fibrillary-Acidic-Protein (GFAP) in Human Serum-Matrix with a Label-Free Impedimetric Immunosensor.

In this work, immobilizing anti-GFAP antibodies via covalent attachment onto L-cysteine/gold nanoparticles that were modified with screen-printed carbon electrodes (Anti-GFAP/L-cys/AuNps/SPCE) resulted in the development of a sensitive label-free impedance immunosensor for the detection of Glial Fibrillary Acidic Protein (GFAP). The immunosensor's stepwise construction was studied using cyclic voltammetry (CV) and electrochemical impedance spectroscopy (EIS). L-cysteine was chosen as the linker between GFAP antibodies and Au NPs/SPCE because it enables the guided and stable immobilization of GFAP antibodies, thus resulting in increased immunosensor sensitivity.

Sleep assessment in preterm infants: Use of actigraphy and aEEG.

Objective: Objective methods to monitor the sleep of preterm infants at the neonatal intensive care unit (NICU) are required to prevent potentially adverse neurodevelopmental outcomes. This study aimed to determine the concordance of actigraphy and amplitude-integrated electroencephalogram (aEEG) against gold standard direct observation (DO) in assessing sleep/wake states of typically developing preterm infants.

Methods: This prospective observational study was conducted in a single center level III NICU.

Re-examining the characteristics of pediatric multiple sclerosis in the era of antibody-associated demyelinating syndromes.

Background: The discovery of anti-myelin oligodendrocyte glycoprotein (MOG)-IgG and anti-aquaporin 4 (AQP4)-IgG and the observation on certain patients previously diagnosed with multiple sclerosis (MS) actually have an antibody-mediated disease mandated re-evaluation of pediatric MS series.

Aim: To describe the characteristics of recent pediatric MS cases by age groups and compare with the cohort established before 2015.

Method: Data of pediatric MS patients diagnosed between 2015 and 2021 were collected from 44 pediatric neurology centers across Türkiye.

The effect of apoprotein E gene polymorphism on neurocognitive functions of children with CHD.

Studies have demonstrated an association between CHD and neurodevelopmental delay. This delay is associated with many factors like reduced blood flow and oxygen, cardiac catheterisations, and genetic factors. Apo E gene polymorphism is one of these genetic factors.

Assisting dementia diagnosis through the electrochemical immunosensing of glial fibrillary acidic protein.

Glial fibrillary acidic protein (GFAP) is a member of the intermediate filament family of proteins with increased levels in serum and cerebrospinal fluid of patients with Alzheimer disease (AD) and other neurodegenerative diseases (NDs), such as vascular dementia (VD). This work describes the first magnetic microbeads (MBs)-based electrochemical immunoplatform for GFAP determination. The platform design comprises a sandwich immunoassay implemented on the MBs surface and amperometric transduction at single-use screen-printed carbon electrodes (SPCEs).

Turkish Validity and Reliability of the Hammersmith Infant Neurological Examination (HINE) with High-Risk Infant Group: A Preliminary Study.

Objective: The purpose of this study was to establish the reliability of the Turkish translation of the Hammersmith Infant Neurological Examination in infants at 8-12 months corrected age and compare Hammersmith Infant Neurological Examination scores to other predictive assessments.

Materials And Methods: Perinatal risk factors, term-age magnetic resonance imaging, general movements at 3-month corrected age, and 12-month corrected age The Bayley Scales of Infant and Toddler Development, Third Edition (BSID-III) scores were obtained in 35 high-risk infants. The Hammersmith Infant Neurological Examination was evaluated using intra-rater and interrater reliability.

Psychosis: a rare onset symptom of pediatric multiple sclerosis.

Neuropsychiatric symptoms are common in multiple sclerosis (MS), but it is rarely associated with psychosis as the initial manifestation. Fourteen-year-old boy admitted with auditory hallucinations. His neurological examination was normal.

Evaluation of state and trait anxiety levels of parents and children before electroencephalography procedures: A prospective study from a tertiary epilepsy center.

Background: Inadequate or misinformation about electroencephalography (EEG) and epilepsy may lead to anxiety in children and their parents. The purpose of this study was to make a simultaneous evaluation of the anxiety levels of children and parents before EEG procedures and to make a brief assessment of their knowledge about EEG.

Methods And Materials: Children aged between 8 and 18 years who were referred for EEG tests at Department of Pediatric Neurology, Gazi University Faculty of Medicine, Ankara, Turkey and their parents were included in the study, prospectively.

Cognitive functions in pediatric multiple sclerosis: 2-years follow-up.

: To assess the neuropsychological status of pediatric multiple sclerosis (MS) patients and its relationship with clinical variables in a longitudinal study.: Patients with MS (n = 46) and age- and gender-matched healthy control subjects (HCs, n = 53) were given tests of non-verbal reasoning, attention/concentration, visuospatial judgement and verbal fluency at baseline visit and after 2 years of follow-up. Cognitive impairment was defined as a failure on at least three of the four tests.

Influence of Intensive Care Unit Enlightenment on Premature Infants on Functional Brain Maturation Assessed by Amplitude-Integrated Electroencephalograph.

Objective: Amplitude-integrated electroencephalograph (aEEG) presents a valuable tool for functional brain maturation of preterm infants. However, the effect of enlightenment on functional brain maturation of premature infants has not been investigated. We aimed to do this with aEEG.

Decrease in Cerebral Oxygen Saturation During the 6-Minute Walk Test in Pediatric Pulmonary Arterial Hypertension.

This observational study aimed to investigate the relationship between regional cerebral oxygen saturation (rSO) during the 6-minute walk test (6-MWT) and the demographic/clinical features of patients with pulmonary arterial hypertension (PAH). Cerebral oxygenation was evaluated during the 6-MWT in 20 pediatric patients with PAH aged ≥ 7 years [13 male, 7 female; median age 12.25 (range 7-18) years].

Effects of robotic rehabilitation on walking and balance in pediatric patients with hemiparetic cerebral palsy.

Background: The most prominent characteristics of hemiparetic cerebral palsy (hCP) children are structural and functional asymmetries. These children have low walking speeds, endurance and poor balance. The robotic walking devices repeat and experience symmetrical stepping at the corresponding speed and angles of the lower extremities.