Rotavirus remains a leading global cause of acute gastroenteritis. Although most affected children fully recover, neurological complications may occur. This study evaluated the frequency of neurological complications in pediatric patients at our center and assessed their developmental trajectories and long-term outcomes. We retrospectively analyzed 398 patients (0–18 years) with clinically diagnosed gastroenteritis and stool-confirmed rotavirus infection, evaluated between February 2017 and September 2023 at the pediatric inpatient and outpatient clinics of the University of Health Sciences, Gülhane Training and Research Hospital. Acute neurological complications occurred in 1.5

Pediatric idiopathic intracranial hypertension can be challenging to diagnose; magnetic resonance imaging (MRI) signs are considered supportive, while lumbar puncture remains the diagnostic reference. We evaluated whether a compact set of conventional magnetic resonance imaging markers, analyzed with supervised machine-learning, can assist in the diagnosis of idiopathic intracranial hypertension in children presenting with headache. In this retrospective single-center study, 62 pediatric patients with idiopathic intracranial hypertension and 62 headache controls without papilledema or structural pathology were analyzed. All lumbar puncture procedures in the idiopathic intracranial hypertension group were performed under benzodiazepine sedation. Twenty-four demographic and quantitative MRI features (optic nerve sheath and globe metrics, pituitary measurements, venous sinus findings, and posterior fossa measures) were extracted. Six classifiers (random forest, support vector machine, multilayer perceptron, XGBoost, k-nearest neighbors, and Bagging) were trained using repeated nested cross-validation with Bayesian hyperparameter optimization; performance was summarized on held-out folds. Across models, accuracies were approximately 0.70–0.74, sensitivities approximately 0.64–0.72, and specificities approximately 0.69–0.84; among non–support vector machine models, the area under the receiver operating characteristic curve was approximately 0.80–0.82. Feature selection consistently retained anatomically plausible markers, led by optic nerve sheath measurements, posterior globe flattening, pituitary/sella configuration, and venous sinus abnormalities. The resulting models generate uncalibrated predicted probabilities for decision support rather than binary diagnostic labels. Performance was estimated across repeated validation splits. Machine-learning applied to routinely obtainable MRI markers yields moderate diagnostic performance for pediatric idiopathic intracranial hypertension. Given that lumbar puncture remains the gold standard, these models are intended as decision-support tools to complement clinical assessment.

Developmental Delay, Epileptic Encephalopathy, Cerebral Atrophy, and Abnormal Myelination syndrome (DECAM syndrome) is a rare autosomal recessive neurodevelopmental disorder with developmental delay, epileptic encephalopathy, cerebral atrophy, severe intellectual disability, and autistic features. It is also called Developmental and Epileptic Encephalopathy 76 (DEE76). In this report, we present two cases of DECAM syndrome, a 5-year-old boy and a 9-year-old girl, who presented with refractory seizures, microcephaly and severe developmental delay. Although both patients had homozygous mutation in the ACTL6B gene, the time of onset and clinical severity of the disease were different. We attributed this to the mutations being in different regions and aimed to emphasize the importance of genotype-phenotype correlation.

OBJECTIVE:The main objective of this study was to assess the resilience scores of children with well-controlled epilepsy and their healthy counterparts using the Connor-Davidson Resilience Scale (CD-RISC). The secondary objective was to investigate the potential association between the age at onset, seizure type, and anti-seizure medication, and resilience in pediatric patients with well-controlled epilepsy. METHODS:This cross-sectional case-control study was performed on children aged 10-18 in a Training and Research Hospital Pediatric Neurology and Pediatric Outpatient Clinic. The study encompassed a total of 103 participants, comprising 57 children diagnosed with epilepsy and 46 healthy counterparts. Resilience and its individual components, namely hardiness, flexibility, coping, purpose, optimism, regulation of emotion and cognition, and self-efficacy, were assessed utilizing the Connor-Davidson Resilience Scale (CD-RISC). RESULTS:There was no statistically significant difference observed in the total CD-RISC scores between children with epilepsy (61.0 ± 17.7) and the healthy cohort (60.8 ± 14.4) (p: 0.97). Furthermore, a comprehensive analysis revealed no significant correlations between the CD-RISC total score and its individual component scores, taking into consideration various factors such as age, gender, age at onset, last seizure date, seizure type, EEG findings, and brain MRI findings. CONCLUSION:Regardless of age, gender, age at onset, seizure type and anti-seizure medication, in well-controlled epilepsy, resilience is similar to that of healthy children. New studies are needed to evaluate resilience in children with epilepsy who have uncontrolled seizures and receive polytherapy.

Abstract Aim This study aimed to describe the clinical features and electroencephalographic (EEG) findings of patients with childhood absence epilepsy (CAE) and to evaluate the relationship of these parameters with treatment response. Methods Twenty-one patients diagnosed with childhood absence epilepsy (CAE) between 2021 and 2024 were included in the study. Demographic data, seizure characteristics, timing of treatment initiation, clinical examination findings, baseline EEG recordings, and treatment responses during follow-up were retrospectively analyzed. Pre-treatment EEG recordings were re-evaluated by a pediatric neurologist. Results Twenty-one patients were included. The mean age at seizure onset was 7.3 years (range: 4.5 to 11 years). The gender distribution was almost equal: 47.6% girls and 52.4% boys. Approximately one-third of the patients had accompanying motor components. During the hyperventilation test, seizures were observed in 15 cases (71.4%) and spike-wave discharges in EEG were seen in 18 (85.7%). Epileptic discharges were detected in four cases (19%) during intermittent photic stimulation. The duration of discharges in EEG was most frequently in the range of 1-10 seconds. Focal fragments were detected in six patients (28%), and OIRDA in five ( 23%). Complete treatment response was achieved in 90.9% of patients with ≤4 discharges frequency and in 70% of those with >4 discharge frequency. All patients initially treated with ethosuximide achieved complete seizure control, whereas response rates were lower in the valproate and lamotrigine groups. Patients who started treatment within three months had higher response rates. No seizures were observed in subsequent follow-ups of patients who achieved early complete response. Conclusion Combined evaluation of clinical and EEG findings in CAE is crucial for treatment planning and prognosis estimation. Although focal findings do not always indicate a poor outcome, they should be interpreted with caution.

Objectives Investigation of inherited metabolic disorders in autism spectrum disorder (ASD) is a matter of debate. X-linked creatine transporter deficiency is among the metabolic disorders which may present predominantly with features of ASD and intellectual disability. Here, we aimed to screen for creatine transporter deficiency in boys with ASD at a university hospital in Turkey.Methods Random urine samples were collected from males with ASD (age 3-18 years); urine creatinine, creatine and guanidinoacetate levels were determined by liquid chromatography - tandem mass spectrometry. Demographic and clinical data were obtained via history and physical examination. The primary outcome was the diagnosis of creatine transporter deficiency (elevated urinary creatine:creatinine ratio). The diagnosis of guanidinoacetate methyltransferase deficiency and the parameters associated with the creatine metabolites were secondary outcomes.Results Forty seven boys were enrolled, 21.3 and 19.1 % of whom had gross motor delay or paroxysmal abnormalities. 55.3 and 51.1 % patients had low urine creatine and guanidinoacetate levels, respectively, and no cases of creatine transporter deficiency or guanidinoacetate methyltransferase deficiency were identified. Age at ASD diagnosis, age at speech onset, otic or ocular dysmorphic features and psychotropic medications were weakly associated with creatine metabolites.Conclusions We found no evidence to support routine screening of boys with ASD for creatine transporter deficiency, but the small number of participants is a limitation. Associates of urinary creatine metabolites were not considered to be clinically significant. High proportion of patients with low creatine and guanidinoacetate levels may be due to nutritional issues, and requires further study.

Objective:Epilepsy is one of the most common neurological diseases in the pediatric population. Orexins are excitatory peptides and associated with energy homeostasis, eating and drinking behaviors, sleep regulation, sleep-wake periods, analgesia, and cognitive activities such as attention, learning, and memory. The aim of this study was to reveal the relationship between plasma orexin levels and seizures in pediatric epilepsy patients with seizures, epilepsy patients in remission, and healthy control group with similar demographic characteristics. Material and methods:The study was conducted between December 2021 and December 2022 in the Department of Pediatric Neurology of a tertiary hospital. 30 epilepsy patients who had a seizure in the last 24 h, 30 epilepsy patients in remission, and 17 healthy controls were included in the study. The Human Orexin-A Enzyme-Linked Immunosorbent Assay Kit was used to measure serum orexin-A level. In the ERG and CG, blood samples were obtained during routine controls. Results:No statistically significant difference was found between serum orexin levels of acute seizure group (ASG), epilepsy in remission group (ERG), and control group (CG). In the ASG, no significant difference was found when orexin levels were compared according to the time of blood sampling after seizure (0-8 h, 8-16 h, 16-24 h). In patients with seizures, the orexin levels of patients with focal seizures were compared with those of patients with generalized seizures. There was no statistically significant difference between the groups. Patients with seizures were evaluated according to electroencephalography (EEG) and cranial magnetic resonance imaging (MRI) findings, and no statistically significant difference was found between orexin levels between the groups. Conclusion:Our study is the first to evaluate orexin levels in children with epilepsy. Further research is needed to evaluate the role of orexins in the pathophysiology of epilepsy. With the clear relationship between orexin and epilepsy, antiorexinergic drugs can be used in the treatment of epilepsy.

Identifying genetic risk factors for highly heterogeneous disorders such as epilepsy remains challenging. Here we present, to our knowledge, the largest whole-exome sequencing study of epilepsy to date, with more than 54,000 human exomes, comprising 20,979 deeply phenotyped patients from multiple genetic ancestry groups with diverse epilepsy subtypes and 33,444 controls, to investigate rare variants that confer disease risk. These analyses implicate seven individual genes, three gene sets and four copy number variants at exome-wide significance. Genes encoding ion channels show strong association with multiple epilepsy subtypes, including epileptic encephalopathies and generalized and focal epilepsies, whereas most other gene discoveries are subtype specific, highlighting distinct genetic contributions to different epilepsies. Combining results from rare single-nucleotide/short insertion and deletion variants, copy number variants and common variants, we offer an expanded view of the genetic architecture of epilepsy, with growing evidence of convergence among different genetic risk loci on the same genes. Top candidate genes are enriched for roles in synaptic transmission and neuronal excitability, particularly postnatally and in the neocortex. We also identify shared rare variant risk between epilepsy and other neurodevelopmental disorders. Our data can be accessed via an interactive browser, hopefully facilitating diagnostic efforts and accelerating the development of follow-up studies.

Background: Autism spectrum disorder (ASD) is a neurodevelopmental disorder affecting brain functions in which qualitative and quantitative problems in communication and behavior are accompanied by restricted interest and repetitive behaviors. There is no laboratory method, or a special test used to diagnose ASD. Here we aimed to report the analysis of the urinary metabolic signatures of ASD patients and healthy subjects to compare the significant changes in the main components of metabolic pathways.Method: A total of 85 male subjects, 42 patients and 43 controls, aged 3-18 years, were included in the study. Urine organic acid levels were analyzed by both GC-MS and LC-MS/MS and the results were recorded. The results obtained were statistically evaluated between the patient and control groups. Results: Certain metabolites involved in branched-chain amino acid metabolism, aromatic amino acid metabolism, tricarboxylic acid cycle, and glycolysis metabolites were found to be significantly reduced in the patient group compared to controls.Conclusions: Our study is the first in the literature in terms of evaluating both GC-MS and LC-MS/ MS together and revealing the general map of metabolism. In addition to revealing some new metabolites in ASD patients, it is also important in terms of summarizing which main pathways these metabolites play a role in. Today, with the widespread use of devices that measure with high sensitivity and provide the opportunity to evaluate many analytes at the same time, it will be possible to reveal the pathology of diseases more accurately such as ASD whose etiopathogenesis has not been fully revealed.

Neonatal diabetesmellitus (NDM) is a monogenic formof diabetes, usually occurring in the first 6 months of life. Here, we present a newborn, which was admitted with epileptic seizure on the postnatal second day of life. Sepsis and meningitis were ruled out. Cranial imaging and electroencephalography revealed normal. She developed transient NDM on the follow- up and was diagnosed to carry an ABCC8 mutation. Although the neurological features are more common in patients with KCJN11 mutations, patients with ABCC8 mutations could also represent with subtle neurodevelopmental changes or even with epileptic seizures. The genetic testing and appropriate therapy is important in this patient group for predicting clinical course and possible additional features.

POU3F3 variants cause developmental delay, behavioral problems, hypotonia and dysmorphic features. We investigated the phenotypic and genetic landscape, and genotype-phenotype correlations in individuals with POU3F3-related disorders. We recruited unpublished individuals with POU3F3 variants through international collaborations and obtained updated clinical data on previously published individuals. Trio exome sequencing or single exome sequencing followed by segregation analysis were performed in the novel cohort. Functional effects of missense variants were investigated with 3D protein modeling. We included 28 individuals (5 previously published) from 26 families carrying POU3F3 variants; 23 de novo and one inherited from an affected parent. Median age at study inclusion was 7.4 years. All had developmental delay mainly affecting speech, behavioral difficulties, psychiatric comorbidities and dysmorphisms. Additional features included gastrointestinal comorbidities, hearing loss, ophthalmological anomalies, epilepsy, sleep disturbances and joint hypermobility. Autism, hearing and eye comorbidities, dysmorphisms were more common in individuals with truncating variants, whereas epilepsy was only associated with missense variants. In silico structural modeling predicted that all (likely) pathogenic variants destabilize the DNA-binding region of POU3F3. Our study refined the phenotypic and genetic landscape of POU3F3-related disorders, it reports the functional properties of the identified pathogenic variants, and delineates some genotype-phenotype correlations.

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

Objective: This study aimed to evaluate physical activity and physical fitness in adolescents with cerebral palsy.Material and Methods: Forty individuals (20 cerebral palsy and 20 asymptomatic adolescents) were included in the study. Physical activity levels were measured by Physical Activity Questionnaire for Adolescents; balance, agility, flexibility and arm movement speed, which are physical fitness parameters, were evaluated with Eurofit test battery; lower extremity muscle strength was evaluated with Muscle Force Evaluation Form; functional independence in the quality of life the individuals was evaluated with Functional Independence Measurement scales and cardiopulmonary endurance was assessed by 6-minute walking test.Results: In statistical analysis, there was no significant difference between two groups for the assessment of agility, 6-minute walk test, flexibility, arm movement speed, balance. There was a significant difference in physical activity and functional independence in favor of asymptomatic group.Conclusion: As a result of our study, it was determined that the levels of physical activity and physical fitness of the adolescents with cerebral palsy were lower. We believe that it is important to direct these individuals to sports and recreational activities, to increase their physical activity and fitness levels, and to reduce difference with their asymptomatic peers.

Amaç: Nörokutanöz sendromlar sinir sistemini ve cildi tutan bir grup hastalıktır. Bunların arasında en sık görülen nörofibromatozis tip 1’dir (NF1). Bu çalışmanın amacı Gülhane Eğitim ve Araştırma Hastanesi Çocuk Nörolojisi Poliklini’ğinde izlenen NF1 tanılı hastaların klinik özelliklerini değerlendirmektir. Gereç ve Yöntemler: Kasım 2016-Mart 2021 tarihleri arasında NF1 tanılı toplam 29 hastanın dosya kayıtları geriye dönük olarak gözden geçirildi. Hastaların aile öyküleri, demografik ve klinik özellikleri incelendi. Bulgular: Hastaların 17’si (%59) erkek, 12’si (%41) kızdı. 10 hastada (%34.4) aile öyküsü mevcuttu. Hastaların 12’sinde (%41.3) NF1 geninde mutasyon saptanmıştı. Hastaların tamamında cafe au lait lekeleri mevcutken, aksiller ve/veya inguinal çillenmeye 18 hastada (%62) rastlandı. 10 hastada (%34.4) kognitif bozukluklar, 3 hastada (%10.3) epilepsi ve 2 hastada (6.9) makrosefali vardı. Lisch nodülü 10 hastada (%34.4) izlenirken, hiçbir hastada optik glioma rastlanmadı. Hastalar maligniteler açısından değerlendirildiğinde 3 hastada (%10.3) periferal nörofibrom, 1 hastada (%3.45) beyin sapı gliomu, 1 hastada (%3.45) akut miyeloid lösemi saptandı. Sonuç: NF1 çoklu sistem tutulumu yapan geniş yelpazeli bir hastalıktır. Hastalar çok farklı klinik bulgular ile karşımıza çıkabilir. Makrosefali, öğrenme güçlüğü gibi nonspesifik nörolojik yakınmalarla çocuk nörolojisi polikliniğine başvuran hastalar dikkatli bir göz ve deri muayenesi ile NF1 tanısı alabilir. Hastalığın klinik özelliklerinin sıklığının bilinmesi tanı konulmasında yardımcı olacaktır.