A bstract Angelman syndrome (AS) is a rare neurogenetic disorder characterized by global developmental delay, absent or severely impaired speech, movement abnormalities, and distinct behavioral features. The most common genetic mechanism involves maternal deletion of the 15q11–q13 region. We report the case of three pediatric female patients presenting with developmental delay and hypotonia. Electroencephalography demonstrated organized background activity without epileptiform discharges in all patients. Cranial magnetic resonance imaging revealed thinning of the corpus callosum in one patient, while the remaining two showed normal neuroimaging findings. None of the patients had a history of seizures at the time of evaluation. These cases highlight the phenotypic variability of deletion-positive AS and demonstrate that early electroencephalographic findings may be normal, with absence of seizures even during long-term follow-up. Early genetic diagnosis remains essential for accurate management and surveillance. These findings challenge the assumption that deletion-positive AS uniformly presents with early epileptiform abnormalities and highlight the importance of genetic testing even in the presence of normal early electroencephalographic findings.

OBJECTIVE:To evaluate the efficacy and tolerability of lacosamide (LCM) adjunctive therapy in a nationwide pediatric epilepsy cohort, including drug-refractory epilepsies (DREs). METHODS:A retrospective nationwide Turkish cohort study included 334 pediatric epilepsy patients (aged 1-18 years) treated with LCM adjunctive therapy. The population was divided into the two cohorts: (I) DREs with developmental and epileptic encephalopaties (DEEs); early-onset DEEs (group A) and late-onset DEEs (group B), and (II) DRE without DEEs: focal/generalized electroclinical syndromes (group C) and well-defined epilepsy syndromes (group D). The effectiveness of LCM adjunctive therapy was assessed by seizure outcome (seizure freedom, ≥50% reduction, <50% reduction, no change, or worsening) and EEG outcome (no change, <50% improvement, >50% improvement, complete improvement, or worsening). Tolerability was evaluated via drug retention rate and treatment-emergent adverse events (TEAEs). RESULTS:The mean duration of LCM adjunctive therapy was 24.63 ± 20.09 months in the cohort (mean age:13.28 ± 4.71 years; 53.8% male). The mean daily effective dose was 6.95 ± 2.25 mg/kg/day, and the time to effectiveness was 2.09 months. Etiological distribution differed across cohorts (p < 0.001), with structural etiology most frequent in groups C (47.1%) and A (34.4%), genetic in group A (22.9%), metabolic in groups A and B (6.3%), and immune/infectious in group D (13.6%). LCM adjunctive therapy provided sustained long-term seizure control in pediatric patients with DRE, with overall seizure control rates of 56.9% at 12 months and 55.6% at 24 months and a consistent responder rate (>50% seizure reduction) of 20.7% (n = 69/334). Cumulative EEG improvement was observed in 33.8% of patients receiving LCM adjunctive therapy, while complete EEG recovery rate was achieved in 6.3%. Similar seizure control rates was identified for DRE with DEEs (28.9%) and DRE without DEEs (35%). Drug retention was 73.9% at 12 months and 67.7% at 24 months, while TEAEs occurred in 20.7%, most commonly somnolence (10.4). CONCLUSIONS:LCM adjunctive therapy was associated with favorable electro-clinical outcomes and good tolerability across a broad spectrum of DREs with DEEs or without DEEs in childhood.

Developmental and/or epileptic encephalopathy with spike-wave activation during sleep (DE SWAS), including electrical status epilepticus during sleep (ESES/CSWS), is associated with seizures, neurocognitive regression, and characteristic electroencephalographic abnormalities. This study aimed to evaluate the clinical, electrophysiological, neurocognitive, and molecular response to corticosteroid therapy in children diagnosed with DE-SWAS, with a particular focus on serum glial fibrillary acidic protein (GFAP) as a potential biomarker of treatment response. Eleven children aged 6-12 years were retrospectively evaluated using clinical records, sleep electroencephalography with quantification of the spike-wave index (SWI), standardized neuropsychological test results, and serum GFAP measurements obtained before and after corticosteroid treatment. Neurocognitive assessment included the Wechsler Intelligence Scale for Children-Revised (WISC-R), Stroop Color and Word Test, Bender Visual-Motor Gestalt Test, and Turkish Receptive and Expressive Language Test (TIFALDI)High-dose intravenous methylprednisolone was administered monthly for six months. During follow-up, four patients became seizure-free, while the remaining seven demonstrated a reduction in seizure frequency and duration exceeding 50%. Complete normalization of electroencephalographic findings was observed in four patients, and a ≥ 50% reduction in SWI was observed in the remaining seven. Post-treatment neurocognitive evaluations demonstrated overall improvement, particularly in attention, executive functions, and receptive language domains. Mean serum GFAP levels decreased significantly following corticosteroid therapy (p = .017). These findings suggest that corticosteroid therapy is associated with favorable clinical, electrophysiological, and neurocognitive outcomes in children with DE-SWAS and that GFAP may represent a promising biomarker of disease activity and therapeutic response. Larger prospective studies are warranted to validate these results.

Background:Pediatric clinically isolated syndrome (CIS) is the first inflammatory demyelinating event of the central nervous system and may progress to multiple sclerosis (MS). Data on relapse patterns and predictors of MS conversion in children remain limited. Objective:To evaluate the clinical, radiological, and immunological characteristics of pediatric CIS and to identify factors associated with relapse and final diagnosis. Methods:In this retrospective cohort study, pediatric patients (3-18 years) presenting with a first demyelinating event between 2011 and 2021 were included if follow-up was ≥6 months. Clinical, MRI, laboratory, and immunological data were reviewed. Group comparisons were performed using non-parametric tests. Relapse predictors were explored using penalized logistic regression. Results:A total of 26 patients were included (mean age 13.2 ± 3.2 years; 14 male). Optic neuritis was the most common presentation (57.7%). During a mean follow-up of 1.28 ± 1.31 years, 30.8% were diagnosed with MS. Relapse occurred in 42% of patients and differed significantly across diagnostic groups (p < 0.001). EDSS scores improved significantly at 3 months (mean reduction 1.79 ± 0.92; p < 0.001). NMO/MOG seropositivity was associated with final diagnosis (p = 0.015). Oligoclonal band positivity showed an increased odds ratio for relapse (OR 7.22) but was not statistically significant. No independent relapse predictors were identified. Conclusion:Approximately one-third of pediatric CIS patients converted to MS. Relapse patterns differed across diagnostic groups. Although immunological markers may indicate increased relapse risk, larger prospective studies are required to define independent predictors of MS conversion.

OBJECTIVE:Cognitive Disengagement Syndrome (CDS) is an attentional construct characterized by excessive daydreaming, mental fogginess, and slowed behavior. This study examined CDS/SCT symptoms and their association with learning difficulties in children with epilepsy. METHODS:In this cross-sectional case-control study, 400 children aged 6-16 years (200 with epilepsy, 200 healthy controls) were assessed using the WISC-R, Turgay DSM-IV Scale, Barkley Child Attention Survey, and Specific Learning Difficulty Symptom Scale. RESULTS:Children with epilepsy demonstrated significantly higher CDS scores than controls (18.28 ± 5.47 vs. 16.36 ± 5.34; p < 0.001; g = 0.36) and lower IQ scores (95.0 ± 7.9 vs. 97.0 ± 6.1; p = 0.004; g = 0.29). CDS symptoms correlated significantly with learning difficulties (r = 0.65), inattention (r = 0.52), and hyperactivity/impulsivity (r = -0.37). In multiple regression analysis (epilepsy group, n = 200), CDS (β = 0.52), inattention (β = 0.42), hyperactivity/impulsivity (β = 0.11), and polytherapy (β = 0.09) independently predicted learning difficulties (R2 = 0.89); epilepsy duration was not significant (p = 0.055). CONCLUSION:CDS symptoms independently associated with learning difficulties in pediatric epilepsy beyond ADHD-related symptoms. Routine CDS screening should be considered in children with epilepsy presenting with academic concerns.

PURPOSE:Neonatal-onset genetic epilepsies are clinically heterogeneous and are increasingly diagnosed through genomic testing. We aimed to describe the phenotypes and neurodevelopmental outcomes of infants with neonatal-onset genetic epilepsy from eighteen tertiary centres and to explore subgroup differences across functional gene categories. METHODS:This retrospective multicentre study included 144 infants with seizure onset within the neonatal period and a genetically supported etiology. Clinical, electroencephalographic, neuroimaging, and genetic data were obtained from participating centres and re-evaluated. Functional gene categories were predefined, and comparative analyses were performed. A sensitivity analysis was conducted in the pathogenic/likely pathogenic subset. RESULTS:We identified 107 variants across 76 genes; whole-exome sequencing was the most common diagnostic method (64.6%). Variants mapped most frequently to genes related to cell metabolism/functioning/signalling (58.3%), followed by ion channels/neurotransmitter receptors (29.2%) and synaptic vesicle docking/release (12.5%). Mean postnatal age at seizure onset was 11.9 ± 12.4 days (range 1-45), and median follow-up was 24 months (range 3-84). Across functional gene groups, seizure onset occurred earliest in the ion channel/neurotransmitter receptor group (p = 0.038), and dysmorphic features were more frequent in the cell metabolism/functioning/signalling group (p = 0.002). These findings remained consistent in sensitivity analyses restricted to pathogenic/likely pathogenic cases (onset: p = 0.046; dysmorphia: p = 0.007). Comparative analyses showed no significant differences between VUS and pathogenic/likely pathogenic groups in evaluated clinical and outcome variables. CONCLUSION:This large multicentre cohort delineates the phenotypic and molecular spectrum of neonatal-onset genetic epilepsies and highlights patterns across functional gene groups that warrant validation in prospective studies.

OBJECTIVE:To evaluate subclinical alterations in cardiac conduction and ventricular repolarization in children with epilepsy by comparing corrected QT dispersion (QTcd), Tpeak-Tend (Tp-e) interval, Tp-e-based ratios, and P-wave dispersion (PWD) between pediatric epilepsy patients and healthy controls. A secondary aim was to explore electrophysiological differences between electrocardiographic recordings obtained during emergency department (ED) presentations and interictal outpatient evaluations. METHODS:In this prospective case-control study, 149 children with epilepsy and 75 age- and sex-matched healthy controls underwent standardized 12-lead electrocardiography using a Nihon Kohden Cardiofax GEN system. ECG parameters included heart rate, PR interval, QT and QTc intervals, QTcd, Tp-e interval, Tp-e/QTc ratio, Tp-e/QTmax interval, QRS duration, and P-wave dispersion. Subgroup analyses were performed between ED and outpatient cohorts. Statistical significance was defined as p < 0.05. RESULTS:Children with epilepsy demonstrated longer PR intervals, higher P-wave dispersion, and increased QTc, QTcd, Tp-e interval, Tp-e/QTc ratio, QRS duration, QTcde, and QTcdpre values compared with controls (all p < 0.05). P-wave duration was shorter in the epilepsy group (p = 0.008), while heart rate was modestly higher but did not reach statistical significance (p = 0.059). With the exception of the Tp-e/QTmax interval, most conduction and repolarization parameters differed between ED and outpatient subgroups. Outpatient recordings were associated with more pronounced ventricular repolarization changes, whereas ED recordings showed greater atrial conduction differences. Antiseizure medication therapy was not significantly associated with ECG parameters. CONCLUSION:Children with epilepsy exhibit measurable but subclinical differences in selected atrial conduction and ventricular repolarization parameters compared with healthy controls. These findings do not indicate established cardiac pathology, but may reflect autonomic or cardiac electrical modulation related to epilepsy or seizure-associated factors. The results should be interpreted as hypothesis-generating and underscore the need for prospective longitudinal studies incorporating clinical cardiac outcomes.

OBJECTIVE:The objective of this study was to examine the serum levels of vasoactive neuropeptides (calcitonin gene-related peptide [CGRP], pituitary adenylate cyclase-activating peptide-38 [PACAP-38], substance P [SP], and vasoactive intestinal peptide [VIP], which have been linked to the pathophysiology of migraine in adults) in pediatric migraine without aura during both pain attacks and pain-free periods and in a control group, with a view of evaluating their diagnostic value in pediatric migraine. BACKGROUND:The diagnosis of migraine is based on clinical features described by patients and pediatric patients may not be able to express migraine symptoms as clearly as adults. The fact that objective biological markers of migraine have not yet been fully defined makes diagnosis difficult, especially in children. METHODS:This prospective cross-sectional case-control study included 39 children and adolescents (aged 8-18 years) diagnosed with migraine without aura and 40 healthy control children between May 2022 and March 2023. The 39 patients with migraine were evaluated both during the course of their migraine attacks and during periods of pain-free status. Plasma vasoactive peptides were measured using an enzyme-linked immunosorbent assay. RESULTS:The comparison of serum SP, PACAP-38, and CGRP neuropeptide levels in the 39 patients with migriane during the ictal and interictal periods revealed no significant differences between the two periods. VIP neuropeptide levels in the ictal period (mean [standard deviation, SD] 291.6 [118.5] pg/mL) in the migraine cohort were found to be significantly higher than the levels observed in both the interictal (mean [SD] 263.6 [100.9] pg/mL, p = 0.019) and healthy control groups (mean [SD] 229.7 [109.3] pg/mL, p = 0.018) (p < 0.05). The level of the neuropeptide SP (mean [SD] 150.5 [29] pg/mL) in the interictal period was found to be lower than that observed in the healthy control group (mean [SD] 174.6 [39.4] pg/mL, p = 0.030) (p < 0.05). Furthermore, the CGRP level in the interictal period (mean [SD] 395.6 [197.6] pg/mL) was found to be significantly higher than that observed in the healthy control group (mean [SD] 320.3 [126.6] pg/mL, p = 0.049) (p < 0.05). No significant differences were observed in the levels of the other neuropeptides. CONCLUSIONS:The present study revealed elevated VIP levels during the ictal period and elevated CGRP levels during the interictal period in patients with migraine without aura when compared to controls. In addition, VIP serum levels were significantly higher in the ictal period compared to both the interictal period and healthy controls. The findings of our study lend support to the use of these neuropeptides as biomarkers for migraine. Nevertheless, further studies and standardization are necessary to ascertain the diagnostic value of single or combinations of SP, PACAP-38, VIP, and CGRP neuropeptides in diagnosing pediatric migraine and differentiating pediatric migraine from non-migraine headaches.

Özet Amaç: Nörokutanöz sendromlar sinir sistemini, cildi tutan hastalık grubudur. Bunların arasında en sık görülenlerden biri de tuberoskleroz’dur (TS). Bu çalışmanın amacı Celal Bayar Üniversitesi Çocuk Nörolojisi Polikliniğinde izlenen TS tanılı hastaların klinik özelliklerini değerlendirmektir. Gereç ve Yöntemler: Ocak 2005-Ocak 2023 tarihleri arasında TS tanılı toplam 23 hastanın dosya kayıtları geriye dönük olarak gözden geçirildi. Bulgular : Hastaların 9’u (%39) erkek, 14’ü (%61) kızdı. 1 hastada (%0,05) aile öyküsü mevcuttu. Hastaların hepsinde (%100) TS geninde mutasyon saptanmıştı. Hastaların tamamında hipomelanotik makül lekeleri mevcutken, shagren patch 4 hastada (%17), anjiofibroma 5 hastada (%21) rastlandı. 11 hastada (%47) kognitif bozukluklar, 11 hastada (%47) epilepsi vardı. Tartışma ve Sonuç: TS sinir sistemi, cilt gibi bir çok sistem tutulumu yapan geniş yelpazeli bir hastalıktır. Hastalar çok farklı klinik bulgular ile karşımıza çıkabilir. Epilepsi, öğrenme güçlüğü gibi nonspesifik yakınmalarla çocuk nörolojisi polikliniğine başvuran hastalar dikkatli bir göz ve deri muayenesi ile TS tanısı alabilir. Hastalığın klinik özelliklerinin sıklığının bilinmesi tanı konulmasında yardımcı olacaktır.

Metachromatic leukodystrophy (MLD) is a rare childhood disease arises by arylsulfatase A (ARSA) deficiency. Storage of sulfatides causes dysmyelination in the central nervous system resulting clinically neurodegenerative process. Ichthyosis can be seen in multiple sulfatase deficiency (MSD) and steroid sulfatase deficiency but ichthyosis with arylsulfatase deficiency is not defined before. Herein we present an individual diagnosed late infantile metachromatic leukodystrophy with ichthyosis and ARSA gene analysis revealed homozygote mutation (c.619G>C). To our knowledge ichthysosis with ARSA deficiency was not reported previously.

Objetivo Evaluar la relación entre la respuesta al tratamiento y la supervivencia libre de progresión radiológica (rPFS) en los pacientes con cáncer de próstata metastásico sensible a la castración (mCSPC), evaluados mediante PSMA-PET/TC utilizando los criterios Response Evaluation Criteria in PSMA-imaging (RECIP 1.0). Métodos En este estudio se analizaron retrospectivamente 116 pacientes. Las imágenes PSMA-PET/TC se evaluaron al inicio del tratamiento y en la semana 12 para detectar los cambios en el volumen tumoral total y la aparición de nuevas lesiones. Los pacientes se dividieron en 4 grupos según los criterios RECIP: respuesta completa (CR), respuesta parcial (PR), enfermedad estable (SD) y enfermedad progresiva (PD). El objetivo principal fue la correlación de los criterios RECIP con la rPFS. Resultados La edad media de los pacientes fue de 67 años (RIC: 62-72). En total, de los 116 pacientes: 65 (56%) presentaron PR, 17 (14,6%) SD, 19 (16,3%) PD y 15 (12%) CR. Se observó que la rPFS fue significativamente diferente entre los 4 grupos (p<0,001). Los pacientes clasificados como PD según RECIP presentaron una rPFS significativamente más corta en comparación con los no-PD (p<0,001), con una rPFS de 7 meses (IC 95%: 3,45-10,56). Se registró el nadir de PSA en 40 pacientes y, en este grupo, ningún paciente fue clasificado como PD. Conclusión Se ha demostrado que los criterios RECIP tienen un valor pronóstico significativo en cuanto a la respuesta al tratamiento y la rPFS en los pacientes con mCSPC.

Objective: Optic neuritis (ON) is a condition that causes vision loss usually in one eye, often due to multiple sclerosis (MS). In this study, we aim to examine the clinical course, diagnostic tests, and treatment outcomes of patients presenting with acute or subacute ON. Method: In this retrospective study, we examined the medical records of pediatric patients aged 3-18 years who were evaluated for acute ON in our neurology department between January 2015 and January 2021. Results: Our study population of 18 participants consisted of female (55.6%), and male (44.4%) patients with an overall mean age of 13.8+-2.3 years at admission. During the follow-up period, patients received the diagnosis of isolated ON (n=10), MS (n=7), and acute disseminated encephalomyelitis (n=1). The most common complaints at initial presentations were blurred vision and visual loss. ON was unilateral in 83.7% and bilateral in 16.7% of the patients. Color vision was initially impaired in 11 of 18 patients. Cranial magnetic resonance imaging (MRI), orbital MRI and spinal MRI revealed demyelinating lesions at different rates. Conclusion: It is crucial to consider ON as one of the potential causes of vision loss in patients. The possibility of other demyelinating diseases, including MS, which can be present or may develop in patients with ON either during the initial presentation or follow-up should be kept in mind.

OBJECTIVE:The study aimed to determine the prevalence of attention deficit hyperactivity disorder (ADHD) in patients with self-limiting epilepsy with centrotemporal spike wave (SeLECTS), as well as the electroclinical features associated with this comorbid condition and the neurocognitive effects using psychometric tests. Additionally, we analysed the electrophysiological findings and neurocognitive status of patients with ADHD to estimate the prevalence of epilepsy and neurocognitive effects in the ADHD population and evaluate their clinical features. METHOD:The study included patients diagnosed with SeLECTS and ADHD who were matched for age and gender. Electrophysiological tests, psychometric tests, demographic and clinical characteristics of SeLECTS patients aged 7-13 years and ADHD patients of similar age were analysed. The study examined electrophysiological and psychometric tests, as well as demographic and clinical characteristics. Both groups underwent testing using the Wechsler Intelligence Scale for Children (WISC-R), Stroop Colour and Word Test (SCWT), and EEG (Electroencephalogram). The SeLECTS group also underwent the Bender Visual-Motor Gestalt Test. RESULTS:No significant relationship was found between the SeLECTS and ADHD groups in terms of age and gender. The rate of epileptiform discharge in EEG findings without a diagnosis of epilepsy was 5.6 % (n = 2) in the ADHD group. The rate of ADHD in the SeLECTS group was 28 % (n = 11). Although all subsections of the WISCR test were higher in the ADHD patient group than in the SeLECTS patient group, only verbal IQ and total IQ showed a significant difference. No significant differences were found between the completion times, error rates, and correction averages of the SCWT sections in both groups. There was no significant correlation found between the performance IQ, verbal IQ, and total intelligence scores in either the isolated SeLECTS patient group or the SeLECTS + ADHD patient group (p > 0.05). However, it is worth noting that verbal IQ was below normal in both groups and slightly lower in the SeLECT + ADHD group. Additionally, the mean SCWT completion time was significantly longer in the SeLECT + ADHD group than in the isolated SeLECTS group. However, no significant difference was found in the Bender Gestalt Visual Motor Perception Test. In the psychometric analyses comparing the isolated SeLECTS, SeLECT + ADHD, and ADHD patient groups, the SCWT completion times were significantly longer in the SeLECT + ADHD group than in the other two groups. The verbal IQ score was significantly higher in the ADHD group than in the other two groups. CONCLUSION:In conclusion, although SeLECTS is commonly considered a benign form of epilepsy, our study found a high rate of comorbidity with ADHD. This condition has a negative impact on verbal intelligence and sustained attention, highlighting the importance of a complete neuropsychological evaluation at the stage of epilepsy diagnosis. It is crucial not to overlook the possibility of an ADHD diagnosis.

Introduction A number of biomarkers are used to evaluate the duration of the epileptic seizure and the interictal period following neuronal injury. Invasive diagnostic methods are increasingly being replaced by peripheral or minimally invasive biomarkers that give results faster and are more secure. Purpose We aimed to evaluate serum glial fibrillary acidic protein (GFAP), S100B, and ubiquitin C-terminal hydrolase (UCHL-1) levels in children with epilepsy. Methods Our study included 3 groups: a nonrefractory epilepsy group, a refractory epilepsy group, and a control group. The GFAP, S100B, and UCHL-1 levels in serum samples collected 2-24 hours after the last seizure were analyzed using enzyme-linked immunosorbent assays. Results A total of 69 children participated in the study, with 35 participants in the refractory epilepsy group, 18 in the nonrefractory epilepsy group, and 16 in the control group. The GFAP values in the refractory (25.4 ng/mL) and nonrefractory (26.1 ng/mL) epilepsy groups were found to be statistically significantly higher than those in the control group (17.9 ng/mL; P = .001). The S100B values were found to be significantly higher in the refractory epilepsy group (34.13 pg/mL) than in both the control group and the nonrefractory epilepsy group (28.05 pg/mL; P = .028). No significant differences were observed in the UCHL-1 levels between the 3 groups. Conclusions We conclude that the observed differences may be due to the increased expression of S100B and GFAP caused by increased and repetitive neuronal damage in refractory epilepsies compared with nonrefractory epilepsies.

Introduction: As with many genetic diseases, the diagnostic role of next-generation sequencing is invaluable for early-onset epileptic encephalopathies. SNARE proteins in synaptic vesicles (synaptobrevin-2) and synaptic plasma membrane (syntaxin-1, SNAP-25) are involved in synaptic exocytosis and recycling. Patient Presentation: Here, we report a patient that started in early childhood with seizures resistant to antiepileptic drugs, then developed epileptic encephalopathy. Discussion/Conclusion: The NAPB gene encodes proteins in the SNARE complex. A previously unidentified homozygous missense variant in the NAPB gene may have contributed significantly to the etiology of our patient with epileptic encephalopathy. We also summarize the clinical, radiological, laboratory, and genetic findings of previously published patients with NAPB variants.

Objective: The purpose of this research is to evaluate the effect of planned education on life and sleep quality given to children with epilepsy. Method: The study was conducted as a quasi-experimental study with a total of 74 epileptic children, 37 of whom were intervention and 37 of whom were controls between 2nd of June-2nd of November 2017 at Manisa Celal Bayar University Hospital, Turkey. Planned education and written education material were provided to the intervention group. One month after the first questionnaire (pretest) application, the second questionnaire form (posttest) was applied to both groups. At the end of the study, education, and written education material (education booklet) were provided to the control group. Child Introduction Form, The Generic Children's Life Quality Measure, KINDL Epilepsy Related Quality of Life Module for Children, Pittsburgh Sleep Quality Index were used to collect research data. Results: It was found that the intervention group's Generic Children's Life Quality Measure posttest average scores were higher than their pretest average scores and the difference between them was significant (p<0.05). It was found that the Pittsburgh Sleep Quality Index posttest average scores of the intervention group were lower than the pretest average scores, the sleep quality of children increased and the difference between them was significant (p<0.05). Conclusion: Pediatric nurses should increase life and sleep quality of child by planning and ensuring the continuity of education for child evaluating child's level of knowledge about the disease, his/her perception form, and compliance with treatment.

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.

Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) emerged in late 2019, and is the infectious agent that caused the coronavirus disease 2019 (COVID-19) pandemic. Although respiratory and gastrointestinal manifestations of SARS-CoV-2 are well defined, the spectrum of neurological involvement is less defined. The classic type of Guillain–Barré syndrome (GBS) progresses over days to weeks and has a monophasic course. Areflexia/hyporeflexia and ascending and symmetrical paralysis are observed clinically in patients. It is an autoimmune process that typically leads to the destruction of myelin after infection. There have been numerous reports of adult patients with the coexistence of GBS disease and active COVID-19 illness, but this number is lacking for children. In this study, we present a literature review of the etiological correlation between SARS-CoV-2 and GBS and describe the cases of two pediatric patients with acute monophasic Guillain–Barré syndrome (GBS) during active COVID-19 infection.