BACKGROUND:Therapeutic plasma exchange (TPE) removes circulating pathogenic antibodies, immune complexes, cytokines, and complement components. While established in adult neurology, evidence on its safety and efficacy in pediatric neurocritical care remains limited. OBJECTIVE:To evaluate the indications, clinical efficacy, and safety of TPE in children with acute or subacute immune-mediated neurological disorders admitted to the pediatric intensive care unit (PICU). METHODS:A retrospective cohort of 24 pediatric patients (aged 1-18 years) treated with TPE between February 2023 and October 2025 was analyzed. Diagnoses included multiple sclerosis (n = 8), Guillain-Barré syndrome (n = 5), acute disseminated encephalomyelitis (n = 3), transverse myelitis (n = 3), autoimmune encephalitis (n = 3), optic neuritis (n = 1), and myasthenia gravis (n = 1). Patients received 3-7 TPE sessions. Clinical response was measured using the modified Rankin Scale (mRS) and GBS disability scores before and after treatment. RESULTS:A total of 130 sessions were performed. Clinical improvement occurred in 20 of 24 patients (83%)-moderate in 8 (33%) and mild in 12 (50%). Median mRS/GBS scores decreased from 4.0 to 3.0 (p = 0.001). Early initiation of TPE (≤ 7 days from symptom onset) was associated with a higher likelihood of neurological improvement in multivariable analysis. No life-threatening complications were observed. Transient, reversible events included hypocalcemia (2.3%), hypotension (1.5%), and urticaria (1.6%). CONCLUSION:TPE appears to be a safe and potentially beneficial intervention for severe or refractory pediatric neuroimmunological disorders. Earlier initiation of TPE was associated with improved neurological outcomes; however, these findings should be interpreted cautiously given the small sample size and heterogeneous disease groups. These findings support integrating TPE into multidisciplinary PICU management and add to the growing evidence supporting its use in pediatric neuroimmunology.

INTRODUCTION/AIMS:Data comparing nusinersen monotherapy with combination therapy using nusinersen and onasemnogene abeparvovec (OA) in spinal muscular atrophy (SMA) type 1 patients are limited. This study aimed to compare the clinical outcomes of nusinersen monotherapy versus combination therapy (nusinersen and OA) in SMA type 1 patients with two SMN2 copies. METHODS:This retrospective multicenter study included 82 patients divided into nusinersen monotherapy (n = 42) and combination therapy (n = 40) groups. Outcomes included motor milestones, Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-INTEND) scores, respiratory and nutritional status, and survival. Patients were stratified by age at treatment initiation (≤ 3, 3-6, and > 6 months). An age-matched subgroup analysis was performed. RESULTS:Age at treatment initiation, total administered nusinersen doses, and follow-up duration were comparable between groups. All deaths (n = 8) occurred in the monotherapy group among patients who initiated treatment after 3 months of age (p = 0.005). There was no significant difference between groups in the age at achieving unsupported sitting. In the age-matched subgroup analysis (n = 44, 22 per group), no significant differences were found between monotherapy and combination therapy in terms of motor function, CHOP-INTEND progression, respiratory and feeding status. Earlier treatment was associated with better feeding outcomes (OR: 0.740, p = 0.024). Pre-treatment respiratory and feeding status were also predictive of corresponding outcomes. DISCUSSION:Early treatment is the main determinant of outcomes, while combination therapy shows no clear advantage over monotherapy. Larger prospective studies are needed to clarify the role and timing of combination therapy.

Background/Objectives: Pediatric Takayasu arteritis (PTA) is a rare large-vessel vasculitis with limited data regarding neurological involvement. This study aimed to evaluate neurological manifestations and associated neuroimaging findings in a cohort of children with PTA. Methods: In this retrospective observational study, 22 patients diagnosed with PTA and followed at a tertiary center between January 2000 and April 2025 were included. Neurological symptoms, examination findings, and neuroimaging data were reviewed. Angiographic involvement was classified according to the Numano classification. Results: Neurological involvement was identified in 5 patients (22.7%), including ischemic stroke (n = 3) and hypertensive encephalopathy (n = 2). Neurological symptoms were present in 15 patients (68.2%), with headache being the most common manifestation (54%). Other symptoms included dizziness, paresthesia, visual disturbances, syncope, and seizures. Neuroimaging revealed ischemic lesions in a subset of patients, as well as nonspecific white matter changes. Angiographic evaluation showed a predominance of extensive disease patterns, particularly Type V and Type IV involvement. Conclusions: Neurological manifestations in pediatric Takayasu arteritis are common but often nonspecific. However, severe complications such as stroke and hypertensive encephalopathy may occur and can be the initial presentation. Careful neurological evaluation and the use of neuroimaging are essential for early detection and appropriate management.

Background. Children with cerebral palsy (CP) may experience epilepsy and challenges with movement, posture, cognition, and musculoskeletal development, which can impact their quality of life (QOL). In this study, we investigated the relationship between demographic and clinical variables as well as QOL in children with spastic CP. Methods. Children aged 6 to 12 years with CP who were followed-up at our tertiary center were included in this cross-sectional study, regardless of the cause. They were categorized into groups based on their gestational age, motor function levels, accompanying conditions such as epilepsy and intellectual disability, and demographic variables, including mothers’ education and income levels. Subsequently, the QOL scores of these groups were compared. Among the 9-12 age group, those with sufficient intellectual capacity completed the QOL questionnaire by both the mothers and patients themselves. The Children’s Sleep Habits Questionnaire (CSHQ) was evaluated and compared with the QOL scores of the patients. Results. A total of 71 patients were included in the study (42 males, 59%). Children whose mothers were more educated and had higher in income level, who were ambulatory with hemiplegia, and did not have epilepsy had significantly better QOL scores. Those with better CSHQ scores were found to have significantly better QOL scores. Additionally, the responses of mothers and patients within the 9-12 age group were highly compatible. Conclusion. Children with CP face challenges impacting their daily lives and overall QOL. Our study identified factors linked to the QOL of children with spastic CP and showed that their integration into CP management could enhance their well-being.

INTRODUCTION/BACKGROUND:The study aims to investigate the effects of the MI (Motor Imagery) program applied in addition to the PTR (Physiotherapy and Rehabilitation) program on gait and balance in children with DMD (Duchenne Muscular Dystrophy). METHODS:The 38 boys with DMD were included in the study and randomized into two groups: the PTR group (mean age: 7.96 ± 1.94 years) and the MI + PTR group (mean age: 9.03 ± 1.71 years). In the PTR group, the PTR program was administered 2 days/week for 8 weeks, and in the MI + PTR group, the MI program was administered 5 days/week in addition to the PTR program. Groups were assessed by the Brooke Lower Extremity Functional Classification Scale, Modified Pediatric Mini Mental Scale, Movement Imagery Questionnaire (MIQ-c), Kinovea® Software Program, Timed Up & Go Test (TUG), Timed Function Tests (TFT), Two-Minute Walk Test (2MWT), and Motor Function Measure (MFM-32). RESULTS:As a result of the study, in PTR Group, TFT-Stairs descending (p = 0.049) was improved. In MI + PTR Group, Kinovea® Software Program-Walking Speed (p = 0.003), 2MWT (p = 0.037), TFT-Stair descend and 10-m walk (respectively; p = 0.001; p = 0.039), and MFM-32-D1 (p = 0.036) were improved. According to the comparison between groups, the groups were not superior to each other (p > 0.05). DISCUSSION/CONCLUSION:Although the MI program applied in addition to the PTR program contributes to improvements in walking speed, walking distance, and functional performance in children with DMD, it does not demonstrate superiority over the PTR program alone.

To compare PwPOMS and healthy controls in terms of respiratory functions, respiratory muscle strength, and fatigue, and investigate the determining role of fatigue on respiratory parameters. Twenty-five PwPOMS and 15 healthy controls were included in the study. Maximum inspiratory pressure (MIP) and expiratory pressures (MEP) were measured. Respiratory functions were evaluated using spirometry, and predicted values were recorded for FEV1, FVC, FEV1/FVC, and PEF. Fatigue levels were assessed using the Pediatric Quality of Life Inventory Multidimensional Fatigue Scale (PedsQL-MFS). The FEV1 https://clinicaltrials.gov/ct2/show/NCT05123924 .

Background Children with self-limited epilepsy with centrotemporal spikes often face language impairments and central auditory processing difficulties. The correlations between these issues, seizure timing, and neuropsychiatric challenges are not fully understood. This study delves into the connections between language impairments and central auditory processing difficulties in cases with self-limited epilepsy with centrotemporal spikes, examining their links with seizure occurrence and neuropsychiatric function. Materials and Methods Patients with self-limited epilepsy with centrotemporal spikes were categorized based on seizure timing: group 1 experienced seizures postbedtime, and group 2 prewaking. Both, alongside controls, underwent the Turkish Expressive and Receptive Language Test (TIFALDI) for language skills, and the Frequency Pattern and Duration Pattern tests for central auditory processing difficulties. Neuropsychiatric assessments involved the Wechsler Intelligence Scale for Children-Revised, the Strengths and Difficulties Questionnaire, the Conners Parent Rating Scale-Revised Short, and the Barratt Impulsiveness Scale-11. Results The study comprised 56 patients with self-limited epilepsy with centrotemporal spikes (ages 6-13) and 32 healthy controls. Both groups significantly lagged behind controls on the Frequency Pattern and Duration Pattern tests (P < .001). In the TIFALDI, the expressive language scores varied between group 1 and controls (P = .04) but not the receptive language scores or the test's expressive and receptive language results between group 2 and controls (P > .05). In the Strengths and Difficulties Questionnaire, group 1 diverged from controls in behavioral and kind and helpful behavior scores (P = .016 and P = .012). Group 1's Barratt Impulsiveness Scale-11 values surpassed controls' (P = .038). Conclusion Children with self-limited epilepsy with centrotemporal spikes have a high central auditory processing difficulties prevalence, regardless of seizure timing. Those with postsleep seizures tend to confront expressive language difficulties, alongside issues in prosocial behavior and impulsivity.

BACKGROUND:Pontocerebellar hypoplasia type 10 (PCH10) due to CLP1 gene mutations is characterized by structural brain anomalies, progressive microcephaly, severe intellectual and physical disabilities, and spasticity. In this follow-up study, evolution of phenotypic and neurological characteristics of patients with PCH10 is discussed. METHODS:Phenotype, growth parameters, motor functions, developmental tests, spasticity assessments, functional independence assessments, electroencephalography (EEG), and brain magnetic resonance imaging (MRI) of 10 patients with PCH10 were monitored on separate examinations. Alterations were recorded. RESULTS:Patients were followed-up for an average of 2.83 years. The tone of the upper extremities was significantly higher than that of the lower extremities, according to Modified Ashworth Scale (MAS) values. Sixty percent of patients could sit unsupported; 20% achieved supported sitting initially but lost the ability during follow-up. Absence of grabbing or sitting was observed in 20% of patients. During follow-up, one person achieved supported sitting and one person achieved head holding. Only one patient was able to speak a few words. Cerebellar atrophy (two of 10), pons hypoplasia (four of 10), cortical atrophy (seven of 10), enlarged ventricles (10 of 10), thinning of the corpus callosum (10 of 10), hypomyelination (six of 10), and increased white matter signal intensity (six of 10) were the observed MRI findings. CONCLUSIONS:Progressive cerebral and cerebellar atrophy was demonstrated radiologically for the first time in a PCH10 cohort. It is of crucial importance to identify these patients promptly with the help of dysmorphic findings and spasticity being pronounced in the upper extremities. Furthermore, we note that phenotypic and neurological examination findings tend to change slightly over time.

Background This study examines spinal muscular atrophy (SMA), a neuromuscular disease associated with malnutrition. Our goals are to assess how effectively screening tools can detect malnutrition and evaluate the impact of nutritional interventions on neurological outcomes, particularly motor functions. Methods Thirty-seven genetically diagnosed SMA patients (types 1, 2, and 3) under nusinersen therapy were included in the study. The nutritional status of these patients was assessed by using anthropometric measurements, including height for age (HFA), weight for height (WFH), and body mass index (BMI) before and after the study. Additionally, the risk of malnutrition was determined using screening tools, namely the Pediatric Yorkhill Malnutrition Score (PYMS) and the Screening Tool for the Assessment of Malnutrition in Pediatrics (STAMP). Nutritional counseling followed the European Society for Paediatric Gastroenterology Hepatology and Nutrition (ESPGHAN) guidelines and considered the patients’ dietary history, including content and administration method. Motor functions were assessed by validated tests: the Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-INTEND) and the Hammersmith Functional Motor Scale—Expanded (HFMSE). Result The study showed an improvement in HFA, by a change from −0.95 to −0.65 (p = 0.015). Conversely, BMI scores decreased from 0.08 to −0.54 (p = 0.015), while WFH and MUAC showed no significant alterations (p = 0.135, p = 0.307). Following nutritional interventions, HFMSE demonstrated a median increase from 29.5 to 30.5 (p = 0.023). Patients identified as being at high risk for malnutrition based on PYMS and STAMP belonged to the moderate-to-severe malnutrition group (BMI Z-score ≤ −2, p = 0.001). Conclusions Use of screening tools in SMA patients is highly beneficial for the early detection of malnutrition. Future research should highlight the importance of combining nutritional management with nusinersen therapy to potentially alter the disease trajectory, especially in motor and neurological functions.

ObjectiveThis study aimed to provide a comprehensive overview of the clinical features, laboratory and screening results, treatment options, and outcomes of patients with type I interferonopathy. Our secondary goal was to identify the predictors of long-term morbidity or mortality.MethodsWe included children with genetically confirmed type I interferonopathies, with a follow-up duration of > 1 year. Data were obtained retrospectively from medical records.ResultsOf the 40 eligible patients for the study, 52.5% were female, with a median age of disease onset of 1.5 years (range 0.1-13.2 yrs). They were diagnosed at an average age of 6.8 (SD 4.6) years. Aicardi-Goutières syndrome was the most common diagnosis (n = 15, 37.5%). The central nervous system was the most frequently affected system (n = 27, 67.5%). Janus kinase inhibitors were administered to 17 (42.5%) patients. Twenty-five patients (62.5%) developed at least 1 permanent morbidity or died during follow-up; thus, they were included in the poor outcome group. Although younger age at disease onset, intracranial calcification (ICC), and lack of chilblains and elevated acute-phase reactants were significant in univariate logistic regression analysis, only ICC on magnetic resonance imaging at admission (adjusted odds ratio 19.69, 95% CI 1.08-359.05,P= 0.04) was found to be a significant predictor of poor outcomes in multivariate logistic regression analysis.ConclusionFor the first time, we evaluated the predictors of poor outcomes in patients with type I interferonopathy with a broad spectrum of subtypes. Further, our study’s unique patient characteristics can provide valuable insights into these extremely rare conditions.

BACKGROUND:Patients with pediatric-onset multiple sclerosis (PwPOMS) frequently experience motor, sensory, and cognitive problems. Although exercise is known to be effective in adult patients with MS, there are still no studies investigating the effectiveness of exercise in PwPOMS. To examine the effectiveness of online exercise training on physical activity, muscle strength, functionality, gait, fatigue, and quality of life in PwPOMS.METHODS:Twenty-one individuals were included and randomly divided into two groups. The online exercise training program (OETP) group received exercise training including aerobics, strengthening, and balance training for 8 weeks, and the control group received no intervention. Outcomes were assessed at baseline, 8 weeks, and 32 weeks.RESULTS:Significant improvements were recorded in physical activity, muscle strength, functionality, gait, fatigue, and quality of life in the OETP group after treatment (p<0.05). Between groups, the OETP group was superior to the control group in terms of physical activity, muscle strength, functionality, and quality of life (p<0.05). The OETP group remained superior to the control group in follow-up.CONCLUSION:OETP performed under the supervision of a physiotherapist is effective in PwPOMS. Even if these patients have no disabilities, it would be beneficial to refer them to rehabilitation from an early period.

Purpose: Brain monoamine vesicular transport disease is an infantile-onset movement disorder that mimics cerebral palsy. In 2013, the homozygous SLC18A2 variant, p.Pro387Leu, was first reported as a cause of this rare disorder, and dopamine agonists were efficient for treating affected individuals from a single large family. To date, only 6 variants have been reported. In this study, we evaluated genotype-phenotype correlations in individuals with biallelic SLC18A2 variants.Methods: A total of 42 affected individuals with homozygous SLC18A2 variant alleles were identified. We evaluated genotype-phenotype correlations and the missense variants in the affected individuals based on the structural modeling of rat VMAT2 encoded by Slc18a2, with cytoplasm-and lumen-facing conformations. A Caenorhabditis elegans model was created for functional studies.Results: A total of 19 homozygous SLC18A2 variants, including 3 recurrent variants, were identified using exome sequencing. The affected individuals typically showed global develop-mental delay, hypotonia, dystonia, oculogyric crisis, and autonomic nervous system involve-ment (temperature dysregulation/sweating, hypersalivation, and gastrointestinal dysmotility). Among the 58 affected individuals described to date, 16 (28%) died before the age of 13 years. Of the 17 patients with p.Pro237His, 9 died, whereas all 14 patients with p.Pro387Leu survived. Although a dopamine agonist mildly improved the disease symptoms in 18 of 21 patients (86%), some affected individuals with p.Ile43Phe and p.Pro387Leu showed milder phenotypes and presented prolonged survival even without treatment. The C. elegans model showed behavioral abnormalities. Conclusion: These data expand the phenotypic and genotypic spectra of SLC18A2-related disorders.(c) 2022 American College of Medical Genetics and Genomics. Published by Elsevier Inc. All rights reserved.

Objective: This study aims to investigate the psychiatric disorders in children with parental multiple sclerosis (MS) and to research the differences between without parental chronic disease. Methods: The children of the parents with MS diagnosis in the neurology department and the children of parents without chronic medical and psychiatric diseases were included in the study. Kiddie Schedule for Affective Disorders and Schizophrenia for School Aged Children Present and Lifetime Version (K-SADS-PL) was applied to the children. Structured Clinical Interview for DSM-IV Axis I Disorders, Clinical Version (SCID-I-CV) was applied to parents with MS. Psychiatric characteristics of the parents and children were determined. The accompanying psychiatric disorders in children and adolescents with paternal MS and the clinical features affecting these disorders were analyzed. Results: Fifty children and adolescents with parental MS were included in the study group and 75 children and adolescents without a chronic disease in the parents were included in the control group. The mean age of children in the study group was 12.7±2.9 years and 58% were girls. 52% of the parents with MS were diagnosed with a psychiatric disorder. As a result of the evaluation, 54% of the children with parental MS were diagnosed with psychiatric disorder. The most common psychiatric diagnoses were anxiety disorders (30%), attention deficit and hyperactivity disorder (ADHD) (22%), and tic disorders (16%), respectively. The Expanded Disability Status Scale scores of the parents of children with psychi-atric diagnoses were significantly higher than those of the children with no diagnosis. Conclusion: Children of MS patients have a high rate of psychiatric disorder. As the severity of MS increases, it is more common for children to be affected psychosocially. Children with parental MS should be follow-up for psychiatric disorders, especially for anxiety disorders and ADHD.

Objective: To evaluate clinical findings and molecular genetic results of the patients with CACNA1A variants. Background: CACNA1A-related disorders comprise clinically and genetically heterogeneous neurological disorders. Design/Methods: In our center, eleven cases of CACNA1A variants (pathogenic/likely pathogenic/variant of uncertain significance (VUS)) were identified retrospectively in whole/clinical exome sequencing. Results: Patient 1 has heterozygous de novo c.3790G>A pathogenic variant with epilepsy, developmental delay, ataxia, intentional tremor, positive Romberg's test, paroxysmal tonic upward gaze, and deep perception problems. His EEG was unremarkable until age 5, and the most recent one showed hypsarrhythmia. Patient 2 had heterozygous de novo c.4991G>A pathogenic variant with global developmental delay, his MRI, and EEG were normal, his ataxia was nonprogressive and improved in time. Patient 3 has c.7378_7402del likely pathogenic variant, he had developmental regression, increased DTRs, and dystonia. Her MRI demonstrated cerebellar atrophy. Patient 4 has heterozygous c.6595C>T VUS with epilepsy, a tremor in the face and upper extremities, and increased DTRs. Patient 5 has heterozygous c.2678G>C VUS, was diagnosed with atypical autism, and his neurological examination was unremarkable. Patient 6 has heterozygous c.2870G>C VUS with developmental delay, gait disorder, and corneal ulceration. Two cases have VUS variants with heterozygous c.6775C>T and c.1261C>T, and they were developmentally normal and had no neurological or psychiatric disorders. Three cases have heterozygous c.6712C>T, c.7114C>T, and c.5986A>C VUS, and they have various neurological findings; however, their overall condition would be explained via other genes' pathogenic variations. Conclusions: We report two de novo pathogenic, one likely pathogenic variant, and eight variants of uncertain significance. CACNA1A variations can lead to a broad spectrum of neurological disorders. However, the genotype-phenotype correlation is unclear and needs to be confirmed in functional and larger studies, especially in cases with a non-specified phenotype. Disclosure: Ms. Ovunc has nothing to disclose. Dr. Kalayci Yigin has nothing to disclose. Serhat Guler has nothing to disclose. Dr. Cinar has nothing to disclose. Dr. Agirbaslo has nothing to disclose. Prof. Seven has nothing to disclose.