Elif Didinmez Taşkırdı

Background/Objectives: Neurological findings in children with inborn errors of immunity (IEIs) may reflect shared syndromic phenotypes, central nervous system (CNS) complications, or unrelated conditions. We assessed their likely etiology through patient-level review. Methods: We screened 1036 children evaluated for suspected IEI between October 2023 and May 2026. This single-center retrospective cohort included 55 children aged 0–18 years with an established or probable IEI and a neurological concern. Consensus review assigned each child to one of five etiological categories: likely IEI-related; independent coexisting diagnosis; acquired, provoked, or coincidental process; no significant neurological involvement; and undetermined. Exploratory Firth regression examined associations of prematurity and consanguinity with likely IEI-related classification. Results: Among children with ascertainable data, persistent neurodevelopmental delay occurred in 29/50 (58.0%), epilepsy in 14/53 (26.4%), and brain magnetic resonance imaging abnormalities in 28/40 (70.0%). Neurological findings preceded IEI recognition in 27/53 (50.9%); 24/54 (44.4%) had a neurological first presentation. Sixteen presentations (29.1%) were classified as likely IEI-related: 13 within monogenic, syndromic, or genetically mediated phenotypes and three as CNS complications. Other categories comprised independent diagnoses (n = 10), acquired, provoked, or coincidental processes (n = 9), no significant neurological involvement (n = 6), and undetermined etiology (n = 14). Adjusted odds ratios were 3.30 (95% CI, 0.97–12.09) for prematurity and 3.06 (95% CI, 0.87–11.49) for consanguinity, with wide confidence intervals. Conclusions: Neurological presentations in children with IEI warrant careful etiological interpretation. Multidisciplinary assessment may help distinguish IEI-associated manifestations from coexisting conditions. Further studies could inform diagnostic evaluation and clinical follow-up.

This study investigated the association between epilepsy and findings from neurological evaluations, including electroencephalography (EEG), neuroimaging, genetic testing, and developmental assessments, in children with Autism Spectrum Disorder (ASD). Ninety-nine children with ASD (DSM-5-TR) were retrospectively evaluated at a tertiary center between 2012 and 2021. Data included demographics, EEG, neuroimaging, genetic testing, and developmental assessments. The cohort was predominantly male (76.8%), with a mean age of 10.2 ± 4.7 years. EEG was performed in 51 patients, with abnormalities detected in 43.1%. Epilepsy was diagnosed in 22.2% (n = 22). Among 42 patients who underwent chromosomal microarray analysis, pathogenic variants were identified in 52.4%. Chi-square analysis showed significant associations between epilepsy and abnormal EEG findings (χ²=45.45, p < 0.001) and pathogenic variants (χ²=7.68, p = 0.006), but not gender (p = 0.823) or intellectual disability (p = 0.691). Logistic regression identified abnormal EEG findings as the strongest independent predictor of epilepsy (OR = 48.96, 95% CI: 12.90-190.97), followed by pathogenic variants (OR = 4.38, 95% CI: 1.64-12.10). EEG abnormalities were present in 77.3% of patients with seizures and 6.4% of those without seizures. EEG abnormalities and epilepsy are highly prevalent in children with ASD. Abnormal EEG findings and pathogenic genetic variants were strong independent predictors of epilepsy in our cohort. EEG should be strongly considered in children with ASD, particularly those with seizures, developmental regression, unexplained paroxysmal events or pathogenic genetic variants. Prospective studies are needed to determine whether broader, potentially routine EEG at diagnosis is warranted in terms of diagnostic yield, cost-effectiveness and long-term outcomes.

Objectives: Drug-resistant epilepsy (DRE) remains a major challenge in pediatric neurology, as many children fail to achieve seizure control despite appropriate medications. Vagus nerve stimulation (VNS) offers an effective adjunctive treatment; however, optimal stimulation parameters for children are not well defined and are often extrapolated from adult protocols. This retrospective two-center cohort study aimed to evaluate the clinical effectiveness of VNS in pediatric DRE and to determine stimulation thresholds—particularly output current and duty cycle—most strongly associated with seizure reduction. Methods: Fifty-two pediatric patients (aged 0–18 years) with DRE who underwent VNS implantation and were followed for at least 12 months were retrospectively analyzed. Stimulation frequency and pulse width were fixed at 30 Hz and 250 µs, while output current and duty cycle were titrated based on clinical response. Seizure outcomes were derived from caregiver-maintained seizure diaries and confirmed during structured follow-up visits. Treatment response was defined as a ≥50% reduction in seizure frequency compared to baseline. Results: At 12 months post-implantation, 76.9% of patients achieved ≥ 50% seizure reduction, 32.7% experienced ≥ 90% reduction, and 11.5% attained complete seizure freedom. Optimal outcomes were associated with output currents of approximately 1.5 mA and duty cycles of 10%. Conclusions: VNS is a highly effective and well-tolerated treatment for pediatric DRE. Stabilization at an output current of 1.5 mA and a 10% duty cycle may serve as a clinically useful programming target. These findings support the use of individualized, age-specific stimulation strategies to optimize outcomes in pediatric VNS therapy.

Klinik İzole Sendrom (KİS); en az 24 saat süren ve ateş veya enfeksiyon gibi başka bir nedenden kaynaklanmayan Multipl Skleroz (MS) ile ilgili ilk nörolojik semptom atağını tanımlamak için kullanılan terimdir. İlk atak anında kliniği ve radyolojik bulguları MS düşündürdüğü halde, MS tanı kriterlerini tam olarak karşılamayan hastada KİS düşünülür. KİS monofazik seyirli olup etkilenen bölgeye göre semptomlar monofokal ya da multifokal olabilir. En sık optik sinirler, spinal kord, beyin sapı ve serebellum etkilenir. Tanıda 2012 yılında yayınlanan Uluslararası Pediatrik Multiple Skleroz Çalışma Grubunda belirlenen KİS tanı kriterlerinden yararlanılır. İzlemde yeni semptom ve bulgular ortaya çıkıp MS tanısı alınabilir. Tanı yöntemlerindeki ve kriterlerdeki değişiklikler, MS’li kişilerin hastalık seyrinde giderek daha erken teşhis edilmesine ve tedaviye olanak sağlar. Clinically Isolated Syndrome (CIS) is a term used to describe the initial neurological symptom attack related to Multiple Sclerosis (MS), lasting for a minimum of 24 hours and not attributable to other causes, such as fever or infection. While the clinical presentation and radiological findings at the time of the initial attack suggest MS, CIS is considered when the diagnostic criteria for MS are not fully met. The course of CIS is monophasic, and the manifestation of symptoms may be monofocal or multifocal, depending on the affected region. The most commonly affected areas include the optic nerves, spinal cord, brainstem, and cerebellum. The diagnosis is based on the criteria established by the International Pediatric Multiple Sclerosis Study Group in 2012. During follow-up, new symptoms and findings may emerge, leading to an MS diagnosis. Advancements in diagnostic methodologies and criteria have enabled earlier identification and treatment of individuals with MS, thereby enhancing disease management and prognosis.

Multipl Sklerozun Tanımı ve Tarihçesi Coşkun YARAR Multipl Skleroz Epidemiyolojisi Meryem Hilal ALTAŞ Nesrin CEYLAN Multipl Sklerozda Etiyoloji ve Genetik Özlem YILMAZ Pınar GENÇPINAR Multipl Sklerozun Patogenezi Hüseyin Bahadır ŞENOL Uluç YİŞ Pediatrik Multipl Sklerozun Klinik Özellikleri Mehmet BAŞTEMUR İbrahim ÖNCEL Pediatrik Multipl Skleroz Tanı Kriterleri Özge DEDEOĞLU Ayşegül Neşe ÇITAK KURT Klinik İzole Sendrom Elif DİDİNMEZ TAŞKIRDI Nihal OLGAÇ DÜNDAR Radyolojik İzole Sendrom Burçin GÖNÜLLÜ POLAT Meltem ÇOBANOĞULLARI DİREK Pediatrik Multipl Sklerozda Tanı Yöntemleri Nilay AKTAR ULUKAPI İsmail SOLMAZ Pediatrik Multipl Sklerozda Ayırıcı Tanı Mehmet BAŞTEMUR İbrahim ÖNCEL Multipl Skleroz Olgularında Radyolojik İllustrasyonlar İle Tanısal İpuçları Harun YILDIZ Multipl Skleroz Atak Tedavisi Fatma Pınar TABANLI Serkan KIRIK Ömer BEKTAŞ Multipl Sklerozda Hastalık Modifiye Edici Tedaviler Genel Tedavi Prensipleri Sevde SEÇER Bahadır KONUŞKAN Oral Tedaviler Büşra BIYIKLIOĞLU Bahadır KONUŞKAN Enjeksiyon Tedavileri Aslı ERCİLİ ERDAL Bahadır KONUŞKAN İnfüzyon Tedavileri Büşra BIYIKLIOĞLU Bahadır KONUŞKAN Multipl Skleroz ve Kök Hücre Tedavisi Mehmet CANPOLAT Pediatrik Multipl Sklerozda Tedavi Yönetimi Nur ÇALIŞKAN Ünsal YILMAZ Pediatrik Multipl Skleroz Tanı ve Tedavi Algoritması Nur ÇALIŞKAN Ünsal YILMAZ Multiple Skleroz Tedavisinde Potansiyel Komplikasyonlar ve Yönetimi Esma ŞENGENÇ Sema SALTIK Multiple Skleroz ve Aşılar Pınar Saka ÜMİT İsmail SOLMAZ Multiple Skleroz Morbilite Nedenleri ve Yönetimi Ezgi ÇAĞLAR Meltem ÇOBANOĞULLARI DİREK Multipl Sklerozda Prognoz ve Mortalite Meryem HİLAL ALTAŞ Nesrin CEYLAN

Giriş: Engellilik, kişinin belirli aktiviteleri yapmasını ve çevresindeki dünyayla etkileşimini güçleştiren herhangi bir bedensel veya zihinsel yetersizlik durumudur. Engelli bireylerin ve ailelerinin başta ekonomik olmak üzere, psikolojik, sosyal problemleri bulunmaktadır. Hastalar sağlık, eğitim, rehabilitasyon gibi diğer sosyoekonomik haklara ve hizmetlere daha kolay erişebilmek için sağlık kuruluna başvurmaktadır. Bu çalışma sağlık kuruluna başvuran çocuk nörolojisi hastalarının başvuru amaçlarını, çocukluk çağındaki engellilik nedenlerini ve yaşa göre dağılımlarını incelemeyi; ayrıca ilgili mevzuat ışığında, raporlamada karşılaşılan sorunlar ve gecikmeler konusunda farkındalık oluşturmayı amaçlanmıştır. Bulgular: Çalışmamıza sağlık kurulu raporu almak için çocuk nöroloji polikliniğine başvuran 1506 hasta dahil edildi. Hastaların yaşı 8.5±4.5 yaştı. 894 (%59.4) erkek, 612(%40.4) hasta kızdı. Polikliniğe en sık başvuru tanıları sırasıyla bilişsel gelişimde gerilik 406(%27), serebral palsi 126 (%8.4), otizm 120 (%8), konuşmada gerilik 110(%7.3), gelişim geriliği 99 (%6.6) şeklindeydi. Çocuk nöroloji bölümü olarak 487(%32.3) hastaya sinir sistemi ve hareket alanından puan verildi. 445 (%91.4) hasta hareket alanından, 42 (%8.6) hasta ise sinir sistemi alanından puanlandırıldı. 237 (%48.7) hastaya “özel koşul gereksinimi vardır” (ÖKGV) puanı verildi. Sonuç: Sağlık kurulu muayeneleri, çocuk nörologlarının günlük pratikte sıklıkla karşılaştığı hasta gruplarını oluşturmaktadır. Sağlık kuruluna başvuran hastaların yaklaşık üçte birinde çocuk nörolojisini ilgilendirilen engellilik durumu mevcuttur. Bu nedenle başta çocuk nörologları olmak üzere tüm sağlık personellerine önemli görevler düşmektedir.

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.Results Genetic test results of 720 patients from 27 centers were obtained. Patients with chromosomal deletion/duplication, non-ID genes, novel genes, and results with changes in more than one gene were excluded. A total of 558 patients with 341 different causative genes were included in the study. Pathway-based enrichment analysis of the ID-related genes via ClusterProfiler revealed 18 shared pathways, with lysine degradation and nicotine addiction being the most common. The most common of the 25 overrepresented DO terms was ID. The most frequently overrepresented GO biological process, cellular component, and molecular function terms were regulation of membrane potential, ion channel complex, and voltage-gated ion channel activity/voltage-gated channel activity, respectively.Conclusion Lysine degradation, nicotine addiction, and thyroid hormone signaling pathways are well-suited to be research areas for the discovery of new targeted therapies in ID patients.