Background: This study aimed to compare serum levels of nitric oxide (NO) related metabolites, glial fibrillary acidic protein (GFAP), and ubiquitin (UBI) between children with controlled epilepsy (CE) and drug-resistant epilepsy (DRE) of unknown etiology, and to investigate the associations between these biomarkers and electroclinical features. Methods: Eighty-five children aged 2–18 years with epilepsy of unknown etiology who had been receiving antiseizure treatment for at least six months were enrolled; 58 were classified as CE and 27 as DRE. Serum GFAP and UBI concentrations were measured using enzyme-linked immunosorbent assay, and serum NO-related metabolites were assessed using a Griess-based colorimetric assay. Between-group comparisons were performed using the Mann–Whitney U test, and associations between biomarkers and clinical variables were evaluated using Spearman rank correlation analysis. Bonferroni correction was applied for multiple comparisons. Results: Historical seizure frequency, comorbidity rate, and seizure detection on initial video-EEG differed significantly between the CE and DRE groups. However, serum NO-related metabolite, GFAP, and UBI levels did not differ significantly between the CE and DRE groups. Correlation analyses revealed a significant positive correlation between serum NO-related metabolite levels and age exclusively in the DRE group (ρ = 0.594, p = 0.001), which remained significant after Bonferroni correction. No such association was observed in the CE group. Conclusions: No statistically significant differences in the measured peripheral serum biomarkers were detected between the CE and DRE groups in this sample. The age-related increase in NO-related metabolites observed in the DRE group should be interpreted cautiously and does not establish progressive NO upregulation or cumulative neuroinflammatory burden. Studies incorporating a healthy control group, standardized sampling intervals, and longitudinal designs are needed to clarify the clinical utility of these biomarkers in childhood epilepsy.

The purpose of this study was to enhance understanding of CACNA1A gene variants by elucidating the clinical profiles of patients with different variants. The overlapping features and varying phenotypic characteristics of these neurological disorders pose challenges for clinicians. A data collection form was utilized to gather clinical features, examination details, and treatment information associated with CACNA1A variants. Thirty-one patients were included in the study from 11 different clinics in Turkey. Cases were assessed by comparing their information with existing literature. The study initially included 32 patients from 29 families, with 31 patients meeting the inclusion criteria. Clinical manifestations ranged from congenital onset hypotonia to motor seizures. Within the group of patients, 87% were diagnosed with epilepsy, 61% had neurodevelopmental defects, 32% experienced ataxia, 22% had eye movement problems, 16% suffered from migraines, and 13% had recurrent encephalopathy. Thirty percent of individuals exhibited cerebellar atrophy. A subset of individuals exhibited various forms of cognitive impairment and different kinds of ataxia. CONCLUSION:CACNA1A variants can lead to structural and functional abnormalities in the Cav2.1 channels, resulting in paroxysmal and/or chronic clinical presentations. The overlapping phenotypes and variable features among family members suggest the influence of environmental factors and modifier genes. A thorough understanding of the range of phenotypic variants and the difficulties encountered by medical professionals is essential for precise diagnosis and efficient treatment approaches in various neurological conditions. Additional research is necessary to clarify the underlying mechanisms that contribute to the various presentations of these variants. WHAT IS KNOWN:• Variants in the CACNA1A gene disrupt calcium signaling, thereby impacting fundamental developmental processes such as neuronal differentiation, migration, and synapse formation. • Variants in the CACNA1A can lead to neurodevelopmental disorders characterized by intellectual disability, learning difficulties, memory challenges, and problems in social interaction. WHAT IS NEW:• Instances of intrafamilial variability in CACNA1A variants have been identified, with differing clinical manifestations exhibited by affected family members. • Incomplete penetrance is a phenomenon that may occur, as neurodevelopmental or neuropsychiatric findings are not exhibited by some patients with CACNA1A variants.

INTRODUCTION:This study examines the health problems and healthcare needs of refugee and asylum-seeker children and aims to develop strategies for improvement. METHODS:Based on quantitative data from 448 refugee and asylum-seeker children and 222 non-refugee local children, this study was conducted at Düzce University, Department of Paediatrics, between 2010 and 2021. The refugee children originated from three countries: Iraq (n = 304), Syria (n = 101) and Afghanistan (n = 43). The data were analysed using the SPSS data analysis program. Ethical clearance was obtained from the Ethics Committee of Düzce Üniversity. RESULTS:The results suggest that refugee and asylum-seeker children have significantly higher rates of acute illness or infection, malnutrition (p < 0.001) and anaemia (p < 0.001) than local children as a result of living in overcrowded families (p = 0.017) and unhealthy conditions. Adolescent pregnancy (p = 0.049) emerges as an important social problem as a result of child marriage among refugee children, mostly in the form of consanguineous marriages (p < 0.001). The rate of having at least two adolescent pregnancies (under 18) was highest among Syrian refugee girls (p = 0.01). Although refugee and asylum-seeker children have higher rates of health insurance (between 74% and 95%), they have lower rates of insurance compared to local children. This research also compares the data from three nationalities, including Syria, Afghanistan and Iraq children; Iraqi and Afghan children under the international protection (IP) system with limited social support and rights had worse health conditions compared to other groups. Although Iraqi children had the highest rates of health insurance on admission (p < 0.001), they also had higher rates of chronic diseases (p = 0.001), infections (p = 0.004), allergic rhinitis (p = 0.001) and malnutrition (p < 0.001). The youngest age of admission (p = 0.006) and the shortest length of stay (p = 0.004) were for Afghan children who also had higher rates of upper respiratory infections (p = 0.021). CONCLUSIONS:This study highlights the urgent need for improved screening programmes and the importance of collaborative efforts to address the specific health needs of these populations. Addressing the health status of child refugees is a complex and multifaceted task that requires the active participation of healthcare professionals, policymakers and researchers, each of whom has a crucial role to play.

Objective: Myelomeningocele causes chronic health conditions and diminished quality of life. Therefore, we evaluated the data of 101 children with MMC (myelomeningocele) and aimed to compare the quality of life between children with MMC and their siblings. Children with MMS have a diminished quality of life with social and behavioral aspects and health issues. Method: This retrospective study collected the data from electronic files. KIDSCREEN 10 quality of life instrument was used for measuring the quality of life. Results: Of 101 children, 93 were survivors. Comparing the survivors (n=93) with their siblings, survivors had lower HRQoL (health-related quality of life) scores in subdimensions of physical well-being (p

Objective: Mitochondrial dysfunction is closely linked to chronic disorders. This study aims to explore the correlation between pediatric anemia and mitochondrial markers, specifically fibroblast growth factor 21 (FGF21), growth/differentiation factor 15 (GDF-15), and nitric oxide synthase (eNOS). Method: This study included 66 children, with 34 diagnosed with anemia and 32 in the healthy control group. Statistically significant biomarkers were determined through cutoff levels. Results: Among the participants, 34 children were classified as anemic, while 32 were categorized as healthy. The study revealed that FGF21 levels ≥ 0.745 pg/mL and eNOS levels ≥ 1.265 µg/mL predicted anemia. Hemoglobin levels exhibited a negative correlation with FGF21 (r = −0.381; p = 0.002) and eNOS levels (r = −0.462; p < 0.001). Furthermore, a significant negative correlation was observed between GDF-15 and ferritin (r = −0.311; p = 0.019), while eNOS levels correlated positively with folate (r = 0.313; p = 0.019). Conclusions: Anemia induced elevated mitochondrial biomarkers; FGF21 and eNOS levels. The findings suggest that the long-term ramifications of anemia in childhood may be associated with mitochondrial dysfunction.

Objective: The purpose of this study was to investigate the serum levels of mitochon-drial metabolism/reactive oxygen species (ROS)- related peptides (hypoxia induc-ible factor- 1a [HIF- 1a], fibroblast growth factor -21 [FGF- 21], growth differentiation factor -15 [GDF- 15]) and key migraine- related neuropeptides (calcitonin gene- related peptide [CGRP], pituitary adenylate cyclase- activating peptide -38 [PACAP- 38], sub-stance P [SP], and vasoactive intestinal peptide [VIP]) during migraine attacks and to evaluate their diagnostic value in pediatric migraine.Background: There is increasing evidence for the important role of impairment in oxidative mitochondrial metabolism in the pathophysiology of migraine. Potential biomarkers that may reflect the relationship between migraine and mitochondrial dysfunction are unclear.Methods: A total of 68 female pediatric migraine patients without aura and 20 fe -male healthy controls aged 8- 18 years, admitted to the hospital, were enrolled in this cross- sectional study. Serum concentrations of these molecules were determined by enzyme- linked immunosorbent assays, and clinical features and their possible diag-nostic value were analyzed.Results: Serum levels of HIF- 1a (252.4 +/- 51.9 [mean +/- standard deviation]) pg/mL), GDF- 15 (233.7 +/- 24.7 pg/mL), FGF- 21 (96.1 +/- 13.1 pg/mL), CGRP (44.5 +/- 11.3), and PACAP- 38 (504.7 +/- 128.9) were significantly higher in migraine patients compared to healthy controls (199.8 +/- 26.8, 192.8 +/- 20.7, 79.3 +/- 4.1, 34.1 +/- 3.5 and 361.2 +/- 86.3 pg/ mL, respectively). The serum levels of these peptides were also higher in patients with chronic migraine than in patients with episodic migraine, and higher in the ictal period than in the interictal period. A positive correlation was found between attack frequency and both HIF- 1a and FGF- 21 levels in migraine patients. Serum levels of VIP and SP were not different between the migraine patients and healthy controls.Conclusion: Migraine attacks are accompanied by elevated HIF- 1a, FGF- 21, GDF- 15, CGRP, and PACAP- 38 in medication -naive pediatric patients with migraine. Elevated circulating mitochondrial metabolism/ROS-related peptides suggest a mitochondrial stress in pediatric migraine attacks and may have potential diagnostic value in monitoring disease progression and treatment response in children. Novel approaches intervening with mitochondrial metabolism need to be investigated.

Amaç: Preterm doğum yenidoğan ölümlerinin önde gelen nedenidir. Bu ölümlerin arasında en yüksek oran solunum sıkıntısı sendromu’ na (RDS) aittir. Bu çalışmanın amacı, yenidoğanlarda RDS yönetiminin en uygun ve etkin hale getirilmesine yardımcı olmak için; RDS’nin risk faktörlerini, klinik özelliklerini ve komplikasyonlarını belirlemektir. Gereç ve Yöntemler: Çalışmaya ikinci düzey yenidoğan yoğun bakım servisimizdeki Ocak 2016 ile Haziran 2021 tarihleri arasında düşük doğum ağırlıklı bebekler alındı. Olgular geriye dönük incelenerek, demografik özellikleri, verilmiş olan tedaviler (mekanik ventilasyon, surfaktan), ve erken ve geç komplikasyonları; ölüm oranları ve sebepleri belirlendi. Bulgular: Toplam 130 olgu çalışmaya alındı. Yüzde altmış ikisi erkek, %38’i kızdı.Yüzde 85’i sezaryen doğum, % 15’inde normal vajinal yoldu. Ortalama doğum ağırlığı 2043±372 gr, ortalama gebelik haftası 32±5 hafta bulundu. Antenatal steroid (ACS), %67,6' sında uygulanmıştı.Yüzde otuzüçünde erken membran rüptürü (EMR) saptandı. Erken ve geç komplikasyonlar; %3,8’inde ventilatöre bağlı pnömoni ve %3’ünde pnömotoraks idi.Yüzde 4,6’ında ise sepsis saptandı. Bronkopulmoner displazi (BPD) %2,3, Prematür Retinopatisi (ROP) %1,5, periventriküler lökomalazi %1,7 ile intrakraniyal kanama (IKK evre III-IV) %2 olarak görüldü. Ölüm oranı %10’du. Sonuç: Ölüm oranlarımız; ülkemizden yayınlanan verilerle benzer olarak bulundu. Doğum öncesi izlemin iyileştirilmesi, gebe takiplerinin düzenli yapılması, sık görülen ölüm nedenleri için risklerin tespit edilip bunlara karşı yeterli ve etkin önlemlerin alınması durumunda ölüm oranlarımızın azalacağını düşünmekteyiz.

Elektroensefalografi: Tarihçe ve Cihaz Mustafa ÇALIK Elektroensefalografinin Nörofizyolojik Temelleri Yüksel YILMAZ Polarite ve Montaj Sedat IŞIKAY1 Shehab AL-HAITHAMY2 Elektroensefalografi Cihazı, Kayıt Elektrotları, Kayıt Parametreleri, Filtreler, Ayarlar ve Kayıt Tekniği Serkan KIRIK Mehmet CANPOLAT Sefer KUMANDAŞ EEG Monitörizasyonu ve Video-EEG Monitörizasyon Ünitelerinin Temel Özellikleri Ceren GÜNBEY Elektroensefalografinin Değerlendirilmesi ve Terminoloji Coşkun YARAR Normal Elektroensefalografi Ritimleri Fatma HANCI Mehmet CANPOLAT Sefer KUMANDAŞ Uyku Elektroensefalografisi ve Polisomnografi Salih AKBAŞ Ebru ARHAN Artefaktlar Canan ÜSTÜN Bülent ÜNAY Elektroensefalografide Aktivasyon Yöntemleri Rojan İPEK Çetin OKUYAZ Yenidoğan ve Süt Çocuklarında Teknik Özellikler ve Montaj Atilla ERSEN Nihal Olgaç DÜNDAR Yenidoğan Döneminde Elektroensefalografinin Matürasyonu Sanem YILMAZ Sarenur GÖKBEN Yenidoğan Normal Elektroensefalografi Bulguları ve Artefaktları Günce BAŞARIR Pınar GENÇPINAR Yenidoğanda Patolojik Elektroensefalografi Bulguları Seda KANMAZ Hasan TEKGÜL Amplitüd İntegre Elektroensefalografi (Aeeg) Nihal OLGAÇ DÜNDAR Yenidoğanda Devamlı Elektroensefalografi Monitorizasyonu ve EEG Bulguları Sema BOZKAYA YILMAZ Pınar GENÇPINAR Yenidoğanda Status Epileptikus ve EEG Seda KANMAZ Hasan TEKGÜL İnfant ve Çocuklarda Serebral Aktivitenin Ontogenezisi Tuğba HIRFANOĞLU Benign EEG Varyantları Kürşad AYDIN Betül KILIÇ Fokal Epilepsilerde İnteriktal EEG Bulguları Şenay HASPOLAT Özlem YAYICI KÖKEN Fokal Epilepsilerde İktal EEG Bulguları Esra SERDAROĞLU Ayşe SERDAROĞLU Lezyonel Epilepsilerde İktal EEG ve Beyin Manyetik Rezonans Görüntüleme Bulguları Ceren GÜNBEY Rahşan GÖÇMEN Dilek YALNIZOĞLU Jeneralize Epilepsilerde İnteriktal EEG Bulguları Dilşad TÜRKDOĞAN Jeneralize Epilepsilerde İktal EEG Bulguları Esra SERDAROĞLU Ayşe SERDAROĞLU Erken Başlangıçlı Neonatal Epileptik Ensefalopatilerde EEG Bulguları Canan ÜSTÜN Mutluay ARSLAN Süt Çocukluğu (İnfantil) Epileptik Ensefalopatilerinde EEG Bulguları Ayşe Nur COŞKUN Bülent ÜNAY Çocukluk ve Ergenlik Dönemi Epileptik Sendromları Dilşad TÜRKDOĞAN Koma ve Ensefalopatilerde EEG Bulguları Gülhis DEDA Ömer BEKTAŞ Refleks Nöbetler ve Refleks Epilepsilerde EEG Nesrin CEYLAN Ayşegül DANIŞ Olgu Örnekleri ile Fotosensitivite ve Epilepsi Ayşe Nur COŞKUN Mutluay ARSLAN Periyodik ve Ritmik EEG Örnekleri Özlem ERSOY Mustafa KÖMÜR Metabolik Epilepsiler Burcu KARAKAYALI Olcay ÜNVER Otoimmün Ensefalitlerde Elektroensefalografi Bulguları Fatih M. Akif ÖZDEMİR Gültekin KUTLUK Ömer BEKTAŞ Sistemik ve Metabolik Bozukluklarda EEG Burcu KARAKAYALI Olcay ÜNVER İlaç ve Toksinlerin Elektroensefalografi Üzerine Etkileri Kürşat Bora ÇARMAN Travmatik Beyin Hasarında EEG Arzu EKİCİ Beyin Tümörlerinde EEG Bulguları Sedat IŞIKAY İnmeli Hastada EEG Filiz MIHÇI Gültekin KUTLUK Ömer BEKTAŞ Santral Sinir Sistemi Enfeksiyonlarında Elektroensefalografik Bulgular Hilal AYDIN Sevim TÜRAY Kromozomal Anomaliler ve Kortikal Gelişimsel Malformasyonlarda EEG Bulguları Deniz YÜKSEL Baş ağrısı ve EEG Fatma HANCI Mehmet CANPOLAT Sefer KUMANDAŞ Konvülzif Status Epileptikus Mehmet CANPOLAT Nonkonvülzif Status Epileptikus ve EEG Esra SERDAROĞLU Ayşe SERDAROĞLU NORSE ve FIRES Olgularında EEG Şenay HASPOLAT Özlem YAYICI KÖKEN Febril Nöbetler ve Febril Status Epileptikusda EEG Bulguları Sevim TÜRAY Nesrin CEYLAN Lateralize ve Lokalize Edici Bulgular Yasemin TOPÇU Kantitatif Elektroensefalografi Ezgi ÇAĞLAR Çetin OKUYAZ Magnetoensefalografi (MEG) ve Fonksiyonel MRI (fMRI)’ın Epilepside Kullanımı Tuğba HİRFANOĞLU Ambulatuvar Elektroensefalografi Canan ÜSTÜN Bülent ÜNAY Yoğun Bakım Hastalarında Devamlı Elektroensefalografi Monitörizasyonu ve Elektroensefalografi Bulguları Duygu AYKOL Döndü ÜLKER ÜSTEBAY Uluç YİŞ Beyin Ölümü & Elektroensefalografi Serap BİLGE Faruk İNCECİK Çocuklarda Elektroensefalografi Çekimleri Sırasında Sedasyon Uygulamaları Dilek GÜNAY CANPOLAT Rutin EEG Raporlama Sarenur GÖKBEN Video EEG Raporlama Ceren GÜNBEY EEG ve Hekimlerin Yasal Yükümlülükleri Haşim ASİL Sedat SEVİÇİN

Çocuklarda Nörometabolik ve Nörodejeneratif Hastalıklarda Öykü, Muayene ve Temel Yaklaşımlar Cengiz HAVALI Kalıtsal Metabolizma Hastalıklarında Laboratuvar İncelemeleri Mehmet Şerif CANSEVER Çocuklarda Temel Radyolojik Görüntüleme Yöntemleri ve Beyin Görüntülemesinde Uygun Yaklaşım Seçimi Derya BAKO Çocuklarda Beyin Manyetik Rezonans Görüntüleme Özge YAPICI Çocukluk Çağı Nörometabolik ve Nörodejeneratif Hastalıklara Manyetik Rezonans Görüntüleme Temelli Radyolojik Yaklaşım Derya BAKO Çocukluk Çağı Nörometabolik ve Nörodejeneratif Hastalıklarda Manyetik Rezonans Spektroskopi Sinan GENÇ Çocukluk Çağı Nörometabolik ve Nörodejeneratif Hastalıklara Genetik Yaklaşım Orhan GÖRÜKMEZ Mitokondriyal Hastalıklarda Heteroplazmi Dinamikleri ve Moleküler Genetik Testlerin Kullanımı Ali TOPAK Çocukluk Çağı Nörometabolik ve Nörodejeneratif Hastalıklarda Kardiyak Değerlendirme Mete Han KIZILKAYA Çocukluk Çağı Nörodejeneratif ve Nörometabolik Hastalıklarda Göz Bulguları Asiye EKİNCİ Çocukluk Çağı Nörometabolik ve Nörodejeneratif Hastalıklarda Hematolojik Bulgular Bilgen IŞIK Nöroenflamasyon Eren ÇAĞAN Nörodejeneratif Hastalıklar ve İmmün Sistem Eren ÇAĞAN Çocukluk Çağı Nörometabolik ve Nörodejeneratif Hastalıklarda Kök Hücre Nakli Bilgen IŞIK Çocukluk Çağı Nörometabolik ve Nörodejeneratif Hastalıklarda Gen Tedavisi Özlem GÖRÜKMEZ OLGU 1 Cengiz HAVALI OLGU 2 Mine Çiğdem ŞENOĞLU OLGU 3 Sevil DORUM OLGU 4 Esra SARIGEÇİLİ OLGU 5 Dilek GÜNEŞ OLGU 6 Rabia TÜTÜNCÜ TOKER OLGU 7 Pembe SOYLU ÜSTKOYUNCU, Songül GÖKAY OLGU 8 Fatma KAYA OLGU 9 Beyza Belde DOĞAN OLGU 10 Sebile KILAVUZ OLGU 11 Ayfer SAKARYA GÜNEŞ OLGU 12 Sevim TÜRAY OLGU 13 Ayşe Ergül BOZACI OLGU 14 Didem SOYDEMİR OLGU 15 Aliye GÜLBAHÇE OLGU 16 Ayfer SAKARYA GÜNEŞ OLGU 17 Elif Perihan ÖNCEL OLGU 18 Emine GÖKSOY OLGU 19 Pınar ÖZBUDAK OLGU 20 Hülya İNCE OLGU 21 Serçin TAŞAR OLGU 22 Habibe KOÇ UÇAR, Berrak BİLGİNER GÜRBÜZ OLGU 23 Rabia TÜTÜNCÜ TOKER OLGU 24 Gülhan KARAKAYA MOLLA OLGU 25 Ayşenur METİN OLGU 26 Gülşah KALAY OLGU 27 Canan ÜSTÜN OLGU 28 Zeynep Beyza KUŞKU OLGU 29 Özgen HÜR OLGU 30 Beyza Belde DOĞAN OLGU 31 Cumali ALAN OLGU 32 Pınar ÖZBUDAK OLGU 33 Serkan KIRIK OLGU 34 Ayşe Nur COŞKUN OLGU 35 İpek DOKUREL ÇETİN OLGU 36 Sevim TÜRAY OLGU 37 Mutluay ARSLAN OLGU 38 Selen HAS ÖZHAN OLGU 39 Hilal AYDIN OLGU 40 Gül YÜCEL OLGU 41 Esra ÜLGEN TEMEL OLGU 42 İlknur CANKURT OLGU 43 Beyza Belde DOĞAN OLGU 44 Çağatay GÜNAY OLGU 45 Aliye GÜLBAHÇE OLGU 46 Dilek GÜNEŞ OLGU 47 Asburce OLGAC OLGU 48 Mehtap KAĞNICI OLGU 49 Nazlı Balcan KARACA OLGU 50 Halil ÇELİK OLGU 51 Esra SARIGEÇİLİ OLGU 52 Serap BİLGE OLGU 53 Hakan ERÇELEBİ OLGU 54 Gül YÜCEL OLGU 55 Asburce OLGAC OLGU 56 Emine Gülben YURDAGÜL OLGU 57 Berrak BİLGİNER GÜRBÜZ, Habibe KOÇ UÇAR OLGU 58 Fatih Mehmet Akif ÖZDEMİR OLGU 59 Özge TOPTAŞ DEDEOĞLU OLGU 60 Fatih Mehmet Akif ÖZDEMİR OLGU 61 Şeyma Nur KARATAŞ OLGU 62 Sevil DORUM, Cengiz HAVALI OLGU 63 Gamze AYVAZOĞLU Nörometabolik Hastalıklar ve Karaciğer Nilüfer ÜLKÜ ŞAHİN OLGU 64 Didem SOYDEMİR

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.

Background: To investigate the activity of the gut-brain axis in the pathogenesis of childhood epilepsy and to define biomarkers capable of assisting with determining new strategies in that context. Methods: Twenty children with epilepsy of "unknown etiology" and seven healthy controls in the same age group were included in the study. The groups were compared using a questionnaire. Stool samples were stored in tubes containing DNA/RNA Shield (Zymo Research) with a sterile swab. Sequencing was carried out using the MiSeq System (Illumina). The 16S rRNA sequencing of samples using nextgeneration sequencing involved V4 variable region polymerase chain reaction amplification concluded by 2 x 250-bp paired-end sequencing of amplicons and at least 50,000 reads (>Q30) per sample. DNA sequences were classified at the genus level using the Kraken program. Bioinformatics and statistical analysis were then performed.Results: Individuals' gut microbiota relative abundance values differed between the groups at the genus, order, class, family, and phylum levels. Flavihumibacter, Niabella, Anoxybacillus, Brevundimonas, Devosia, and Delftia were seen only in the control group, whereas Megamonas and Coriobacterium were observed only in the epilepsy group. The linear discriminant analysis effect size method identified 33 taxa as important in differentiating the groups. Conclusions: We think that bacterial varieties (such as Megamonas and Coriobacterium) that differ be-tween the two groups can be employed as useful biomarkers in the diagnosis and follow-up of epileptic patients. We also predict that, in addition to epilepsy treatment protocols, the restoration of eubiotic microbiota may increase the success of treatment.& COPY; 2023 Elsevier Inc. All rights reserved.

Aim: The epidemiological characteristics and modes of transmission of coronavirus disease 2019 (COVID-19) in children are not yet fully understood. In this study, it was aimed to evaluate clinical, laboratory, and radiological findings and treatment approaches in patients with negative and positive PCR tests among those with suspected COVID-19 retrospectively.Material and Methods: This study was conducted with 317 patients under 18 years of age, who received outpatient or inpatient treatment with a pre-diagnosis of COVID-19. All patients were assessed for clinical course, disease severity, comorbidity, demographic characteristics, laboratory and radiodiagnostic tests, treatment characteristics, and outcomes.Results: The PCR test was positive in 133 (42%) and negative in 184 (58%) of the patients with suspected COVID-19. There was a history of contact in 78 (58.6%) and 51 (27.7%) of the PCR-positive and negative patients, respectively (p<0.001). While the PCR-negative group had a higher rate of hospitalization (p=0.020), hospital stay was longer in PCR-positive cases (p=0.037). The white blood cell count (p=0.001), platelet count (p=0.037), neutrophil count (p=0.015), and lactate level (p=0.025) were significantly lower in the PCR-positive group.Conclusion: Early detection and isolation of children with symptoms suggestive of COVID-19 are important to limit the spread of the disease. It can be challenging initially to clinically understand whether the case has COVID-19, especially in pediatric patients. PCR test is the gold standard in the diagnosis of COVID-19. Considering the prevalence, severity, and complications of the outbreak, it would be a proper approach to initially evaluate suspected patients as COVID-19 patients.

Copy number variants have been increasing due to a rise in the availability of array comparative genomic hybridisation, which occupies an important place in diagnosis, especially in patients with epilepsy, dysmorphic findings, and intellectual disability. We detected 2q13 chromosomal duplication and 6p21.32 chromosomal deletion in a patient under follow-up due to epilepsy, developmental retardation, dysmorphic findings, and asymmetric overgrowth in our clinic since the age of six months. The parents had only 2q13 mutations. Copy number variation in 2q13 is associated with dysmorphic findings, psychiatric disorders, and developmental delays. However, the exact pathogenicity is not yet known. We think that 6p21.32 chromosomal deletion caused resistant epilepsy and lipodystrophy in this patient. We anticipate that this case will contribute to the literature by linking disorders caused by the current chromosomal abnormality to clinical findings. Key Words: Myoclonic astatic seizure, Resistant epilepsy, Dermal atrophy, Chromosomal microarray analysis.

Background/Aim: Drug-resistant epilepsy (DRE) is a condition that affects sleep habits and the quality of life of children unfavorably. The aim of our study was to evaluate the relationship of sleep habits and sleep chronotype with the quality of life and behavioral problems in children with DRE. Materials and methods: In our study, 2-11-year-old children, who were either healthy or diagnosed with DRE, were evaluated. A sociodemographic data form was filled out to evaluate the general characteristics of children. The Children's Sleep Habits Questionnaire (CSHQ) and the Children's Chronotype Questionnaire (CCTQ) for sleep habits, the Pediatric Quality of Life Inventory (PedsQL) for the quality of life, and the Aberrant Behavior Checklist (ABC) for behavioral problems were filled out through face-to-face interviews with parents. Results: Thirty children with DRE and 31 healthy children were included in our study. Statistically significant differences were found in children with DRE compared to the control group in terms of the total and the subscale scores of CSHQ, including sleep onset delay, sleep duration, sleep anxiety, parasomnias, and sleep-disordered breathing (p < 0.001). There were no significant differences between the groups in terms of CCTQ total scores and sleep patterns (p > 0.05). Significant differences were found in PedsQL total and subscale scores, and ABC scores in children with DRE compared to the control group (p < 0.001). Children's Sleep Habits Questionnaire, PedsQL, and ABC scores were significantly correlated with each other in children with DRE. Conclusions: Our results have shown that sleep habits and the quality of life are poor in children with DRE. Our study has shown that sleep disturbances, quality of life, and behavioral problems are strongly associated with each other in DRE. The recognition and appropriate treatment of sleep disturbances are important for improving the quality of life in children with DRE. (c) 2022 Elsevier Inc. All rights reserved.

Aim: The epidemiological characteristics and modes of transmission of coronavirus disease 2019 (COVID-19) in children are not yet fully understood. In this study, it was aimed to evaluate clinical, laboratory, and radiological findings and treatment approaches in patients with negative and positive PCR tests among those with suspected COVID-19 retrospectively. Material and Methods: This study was conducted with 317 patients under 18 years of age, who received outpatient or inpatient treatment with a pre-diagnosis of COVID-19. All patients were assessed for clinical course, disease severity, comorbidity, demographic characteristics, laboratory and radiodiagnostic tests, treatment characteristics, and outcomes. Results: The PCR test was positive in 133 (42%) and negative in 184 (58%) of the patients with suspected COVID-19. There was a history of contact in 78 (58.6%) and 51 (27.7%) of the PCR-positive and negative patients, respectively (p<0.001). While the PCR-negative group had a higher rate of hospitalization (p=0.020), hospital stay was longer in PCR-positive cases (p=0.037). The white blood cell count (p=0.001), platelet count (p=0.037), neutrophil count (p=0.015), and lactate level (p=0.025) were significantly lower in the PCR-positive group. Conclusion: Early detection and isolation of children with symptoms suggestive of COVID-19 are important to limit the spread of the disease. It can be challenging initially to clinically understand whether the case has COVID-19, especially in pediatric patients. PCR test is the gold standard in the diagnosis of COVID-19. Considering the prevalence, severity, and complications of the outbreak, it would be a proper approach to initially evaluate suspected patients as COVID-19 patients.

Childhood-onset neurodegeneration with cerebellar atrophy (CONDCA) is a recently described form of the large group of infantile hereditary lower motor neuron diseases (Teoh et al. 2017), resulting from biallelic damaging variants in the AGTPBP1 gene, first described by Shashi et al. in EMBO J 37(23):e100540, 2018. AGTPBP-related neurodegeneration is a severe neurodevelopmental disorder that progresses with global developmental delay and intellectual disability, often accompanied with peripheral nerve damage and lower motor degeneration and a fatal course in the early years of life. The encoded protein is ATP/GTP-Binding Protein1, also known as cytosolic carboxypeptidase 1 (CCP1) or nervous system nuclear protein induced by axotomy (NNA1). Here we report a consanguineous family with four offspring, two of whom are affected. The index patient is a 21-month-old male with global developmental delay and hypotonia. The proband’s 17-year-old sister, diagnosed with cerebral palsy, had severe hypotonia accompanied by motor and cognitive retardation. WES analysis revealed a novel homozygous c.3293G > A variant in the AGTPBP1 gene with high pathogenicity scores. Targeted Sanger sequencing confirmed the variant in both affected children and in heterozygous form in the parents. The affected siblings present with hypotonia and motor and cognitive retardation, in line with the studies previously reported. However, in our patients, no signs of cerebellar atrophy in cranial MRI were present, so the acronym CONDCA is not applicable; lower motor neuron findings were also absent. The matching and distinguishing aspects of our patients will add to the present literature and expand our understanding of this rare genetic neurodegenerative disease of early childhood.

Aim: In this study, we aimed to investigate the etiological factors, electroencephalographic (EEG) findings, rates of response to iron therapy, and factors affecting response to iron therapy in children diagnosed with breath-holding spells (BHS). Methods: The study included 136 children aged 1 to 48 months who received iron therapy after a BHS diagnosis at our pediatric neurology clinic between November 2015 and No¬vember 2019. Patient medical records (physical examination, laboratory and EEG findings, medical history, and effectiveness of iron therapy) were reviewed retrospectively. Results: Of all patents, 81 (59.6%) exhibited partial response (partial remission) to iron therapy (50% decrease in BHS frequency), 52 (39%) responded completely (complete remission), and 2 were unresponsive. Comparison of the patients with complete and partial remission revealed a higher rate of complete remission in girls. In addition, patients with complete remission had higher levels of hemoglobin, MCV, and ferritin than those with partial remission. Complete remission rates were also higher in patients with normal EEG findings. Conclusion: BHS in childhood is a benign, recurring, and non-epileptic disorder and its differentiation from epilepsy is important. Children with BHS respond well to iron therapy, which can be recommended even if the serum iron and ferritin levels are normal.

Ad dress for Cor res pon den ce Fatma Hancı, Bolu Abant İzzet Baysal University Faculty of Medicine, Department of Pediatrics, Bolu, Turkey Phone: +90 506 350 91 72 E-mail: fatmah.arslan@gmail.com ORCID: orcid.org/0000-0002-1019-9207 Re cei ved: 20.10.2020 Ac cep ted: 10.12.2020 1Bolu Abant İzzet Baysal University Faculty of Medicine, Department of Pediatrics, Bolu, Turkey 2Düzce University Faculty of Medicine, Department of Pediatrics, Düzce, Turkey 3University of Health Sciences Turkey, Kanuni Training and Research Hospital, Clinic of Pediatrics, Trabzon, Turkey Fatma Hancı1, Sevim Türay2, Keziban Aslı Bala3, Aslıhan Tunçlar1, Mustafa Dilek1, Nimet Kabakuş1

Objective: To determine neurodevelopmental and seizure prognoses in our patients with West syndrome receiving adrenocorticotropic hormone (ACTH) therapy, and to identify the factors affecting these. Materials methods: We determined the demographic factors, previous seizure histories, ACTH use and response times, and etiological factors of 34 patients diagnosed with West syndrome in our clinic at 3-24 months and receiving ACTH therapy. We also investigated their neurological development and its effect on seizure prognosis. Results: We found a significant relationship between patients experiencing seizures before diagnosis and subsequent seizure prognosis. We also found a later response to ACTH and poorer neurodevelopmental and seizure prognoses in patients with symptomatic etiologies. Global developmental delay was determined in 76% of all cases, and seizures persisted despite antiepileptic drugs in 62%. Conclusions: Symptomatic etiological factors in West syndrome adversely affect the neurodevelopmental process and subsequent seizure prognosis.

Abstract It has been known for several decades that epilepsy and autism spectrum disorders (ASD) are related to each other. Epilepsy frequently accompanies ASD. The purpose of this study was to investigate relationship between clinical and electroencephalogram (EEG) findings in ASD patients and to identify EEG characteristics that may create a disposition to epilepsy in ASD by examining differences in clinical and EEG findings between patients diagnosed with ASD without epilepsy and ASD with epilepsy. A total of 102 patients aged 2 to 18 years and diagnosed with ASD based on Diagnostic and Statistical Manual of Mental Disorders, fifth edition (DSM-5) diagnostic criteria between January 2017 and June 2019 were included in the study. Patients were assigned into two groups: (1) ASD with epilepsy and (2) ASD without epilepsy. Clinical findings were retrieved from patients' files, and EEG findings from first EEG records in the EEG laboratory at the time of diagnosis. EEG findings were defined as central, parietal, frontal, temporal, or generalized, depending on the location of rhythmic discharges. The incidence of epilepsy in our ASD patients was 33.7% and that of febrile convulsion was 4%. Generalized motor seizures were the most common seizure type. Epileptic discharges most commonly derived from the central and frontal regions. These abnormalities, especially frontal and central rhythmic discharges, may represent a precursor for the development of epilepsy in ASD patients.