The Impact of Parent-Based Support Programs on Neurodevelopmental Prognosis: Second-Year Results from a Newly Established Neurodevelopmental Follow-Up Unit in a Tertiary Hospital.

This study aims to assess the neurodevelopmental progress of high-risk infants 2 years post implementation of the Neurodevelopmental Follow-Up Unit (NFU) program at our hospital and explore implementation challenges for insights. Infants were assessed using the Hammersmith Infant Neurological Examination (HINE), The Alberta Infant Motor Scale (AIMS), and Bayley Scales of Infant and Toddler Development, Third Edition (BSID-III). A multidisciplinary team provided comprehensive parent education covering neurologic cues, postural advice, and developmental instructions in accordance with the children's assessment findings.

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.

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.

Role of serostatus in pediatric neuromyelitis optica spectrum disorders: A nationwide multicentric study.

Background: Neuromyelitis optica spectrum disorders (NMOSD) are immune-mediated inflammatory disorders of the central nervous system (CNS) mostly presenting as optic neuritis and acute myelitis. NMOSD can be associated with seropositivity for aquaporin 4 antibody (AQP4 IgG), myelin oligodendrocyte glycoprotein antibody (MOG IgG), or can be seronegative for both. In this study, we retrospectively examined our seropositive and seronegative pediatric NMOSD patients.

Postnatal surgery for myelomeningocele in neonates: neurodevelopmental outcomes.

Background: The study aims to evaluate the neurodevelopmental outcomes of neonates with myelomeningocele (MMC) operated in the postnatal period.

Methods: This is a prospective follow-up study in a tertiary neonatal intensive care unit. Neurodevelopmental outcomes of term neonates operated for MMC and healthy term newborns were compared with the Bayley Scales of Infant and Toddler Development -Third Edition (BSID III) at 12-18 months.

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.

A female case of 5,10-methenyltetrahydrofolate synthetase deficiency with novel neuro-imaging abnormalities.

Background: Folate metabolism disorders can affect various organ systems, including the nervous system. 5,10-methenyltetrahydrofolate synthetase deficiency is a rare cerebral folate deficiency in which MTHFS activity is disrupted with low-normal cerebrospinal fluid (CSF) 5,10-methenyltetrahydrofolate levels, while peripheral folate levels are normal.

Case Report: We present here a female patient with developmental delay, microcephaly, hypotonia, nystagmus, and seizure in which a distinct brain MRI and CT showed restricted diffusion in the bilateral parietal and occipital lobes, and calcifications of the bilateral putamen, globus pallidus, and caudate nucleus, and the bilateral parietal and occipital lobes.

Evaluation of micronutrient levels in children with cerebral palsy.

Background: Many studies evaluating the nutritional status of children with cerebral palsy (CP) have focused on energy requirements and protein intake. The present work aimed to assess nutritional status and micronutrient levels of children with (CP).

Methods: This multicenter, cross-sectional and observational study was conducted in 10 different cities in Turkey.

Clinical profile and long-term outcome of the first seizures in children.

Background: Seizures are one of the most common causes of pediatric admissions to hospitals in children. This study aims to identify the clinical profile and outcome of first seizures in children.

Methods: Children who presented to the pediatric neurology outpatient clinic and pediatric emergency service with a first-time seizure and aged one month through 18 years old were enrolled to the study.

An Unexpected Cause of Ptosis: 22q11.2 Duplication Syndrome.

The chromosome 22q11.2 region is highly susceptible to both microdeletions and microduplications that have been known to be responsible for multiple congenital anomaly disorders. We describe a patient of 22q11.

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.

A Case with Neonatal-onset Type 2 Neuronal Ceroid Lipofuscinosis: A Novel Mutation.

Neuronal ceroid lipofuscinosis (NCL) is a lysosomal storage disorder that causes progressive neurodegenerative disease as a result of storage in neurons and other cells. Late infantile type (NCL Type 2) of NCL, which is the most common neurodegenerative disease in childhood, is characterised by a homozygous mutation in the tripeptidyl peptidase-1 (TPP-1) gene. A male infant was referred to our neonatal intensive care unit (NICU) on 26th day of life with a diagnosis of metabolic disease.

Variant ataxia-telangiectasia in a child presenting with laryngeal dystonia.

Background: Dystonia is a common hyperkinetic movement disorder in children; however, making an early and definitive diagnosis of dystonia can sometimes be challenging for clinicians.

Case: Herein, we report a case of a 16 years-old girl presenting with laryngeal dystonia due to compound heterozygosity of a known pathogenic and a novel variant in the ATM gene. Serum alpha-fetoprotein level was elevated.

Pediatric case of persistent hiccups associated with hypertrophic olivary degeneration.

Background: Hypertrophic olivary degeneration (HOD) is a rare degenerative disorder that is thought to occur subsequent to a disruption of the dentate-rubro-olivary pathway.

Case: We report a pediatric case of unilateral HOD presented with persistent hiccups and palatal tremor. Radiological examination of diaphragm was normal considering ultrasound and chest x-ray.

Identification of Gene Mutations/Deletions in Patients with Early Onset Epilepsy.

Background And Aims: gene, which encodes protocadherin 19, is associated with epilepsy and intellectual disability, mainly in affected females. The clinical manifestations are heterogeneous and the main features include early onset seizure, generalized or focal seizures sensitive to fever, and brief seizures occurring in clusters. The disorders exhibit a unique and unusual X-linked pattern of expression.

Treatment Outcomes of Pediatric Status Epilepticus in a Tertiary Pediatric Intensive Care Unit.

Objective: Status epilepticus is associated with high rates of morbidity and mortality; thus, early diagnosis and proper treatment are crucial. We aimed to study the etiology, clinical features, and treatment among pediatric patients with convulsive status epilepticus.

Methods: The medical records of 100 patients were retrospectively obtained from pediatric intensive care unit.

A case of spastic paraplegia-15 with a novel pathogenic variant in gene.

Hereditary spastic paraplegia (HSP) is a group of rare neurodegenerative disorder with genetic and clinical heterogeneity. It has autosomal dominant (AD), autosomal recessive (AR) and X-linked forms. HSPs are clinically classified into 'pure' and 'complicated' (complex) forms.

Impact of next-generation sequencing panels in the evaluation of limb-girdle muscular dystrophies.

Introduction: Limb-girdle muscular dystrophy (LGMD) is the fourth most common muscular dystrophy, with progressive proximal muscle weakness. However, a large number of neuromuscular conditions are similarly presented. Because of this, the use of high-throughput methods such as next-generation sequencing (NGS) is important in the evaluation of LGMD.

An Option to Consider for Alternating Hemiplegia of Childhood: Aripiprazole.

Alternating hemiplegia of childhood (AHC) is an infrequent neurological disorder characterized by recurrent transient attacks of hemiplegia that last minutes to days and impress either side of the body, dystonic or tonic attacks, and nystagmus. Cognitive or neurological deficits with progressive course are another findings. Epileptic seizures may occur in some patients.

A De Novo Xp11.23 Duplication in a Girl with a Severe Phenotype: Expanding the Clinical Spectrum.

The Xp11.22-p11.23 duplication syndrome was described in 2009 by Giorda et al and is characterized by intellectual disability, speech delay, and electroencephalography anomalies.