Evaluation of Serum Advanced Glycation End Product Levels and Microvascular Complications in Children and Adolescents with Type 1 Diabetes Mellitus.

OBJECTIVE: Advanced glycation end products (AGEs) are irreversible macromolecules formed by nonenzymatic reactions due to chronic hyperglycemia. The aim of this study was to assess the relationship between AGEs and the microvascular complications of children and adolescents with type 1 diabetes mellitus (T1DM). MATERIALS AND METHODS: Twenty-six T1DM patients with microvascular complications and 58 complication-naive patients who were similar regarding age, sex, and pubertal status enrolled in the study. Anthropometric, biochemical, ophthalmologic, and neurologic variables were compared with serum AGEs levels by the fluorescence method. RESULTS: There was no significant difference observed between the patients with complications and those without complications in terms of serum levels of AGEs and other biochemical parameters. However, the duration of T1DM and urine microalbumin-creatinine ratio (uACR) were significantly higher in the complication-positive group (P < .001). Serum levels of AGEs were found to be similar when retinopathy, peripheral, and optic neuropathy were separately compared with the complication-naive group (P > .05). However, patients with nephropathy had significantly higher serum levels of AGEs than patients without complications (P = .023). In addition, there was a significant positive correlation between serum AGEs levels and uACR (P = .042) but not other parameters (P > .05). CONCLUSION: This study is the first to evaluate the association between serum AGEs levels and microvascular complications in children and adolescents with T1DM. Our study highlights that serum AGEs levels are significantly correlated with nephropathy but not with retinopathy and neuropathy. Further long-term studies with a larger sample size are required to establish a better relationship between diabetic complications and AGEs. Cite this article as: Kirkgöz T, Acar S, Küme T, et al. Evaluation of serum advanced glycation end product levels and microvascular complications in children and adolescents with type 1 diabetes mellitus. Turk Arch Pediatr. 2024;59(1):31-37.

Retrospective evaluation of Guillain-Barre syndrome in children: A single-center experience.

BACKGROUND: Although Guillain-Barré syndrome (GBS) is now the most common cause of acute flaccid paralysis in children, information on the long-term follow-up of GBS is still limited. Identification of prognostic factors can play an important role in treatment strategies and the follow-up of patients. This study aimed to evaluate the effectiveness of monitoring the GBS disability score (DS) in predicting morbidity and mortality. METHODS: The patients were separated into two groups those with DS≥ or <3 on admission. These groups were compared in respect of demographic data, clinical and laboratory findings, and the DS recorded on admission and at first, third, sixth, 12th, and 24th months. RESULTS: The study included 44 patients (54.5% male, 45.5% female) with a median age of 5 years. The most common involvements during the disease were weakness, ataxia, neuropathic pain, cranial neuropathy, respiratory distress, autonomic dysfunction, and psychiatric symptoms, respectively. In patients with a DS of ≥3, the time from onset of symptoms to hospital admission was shorter, and the length of hospital stay was longer. Children with back pain and autonomic dysfunction had a DS of ≥3. A high 3-month DS was found to be a significant predictor for the development of sequelae. CONCLUSIONS: Although progressive muscle weakness and inability to walk are the most common symptoms of GBS, it should be kept in mind that atypical manifestations such as hemiplegia and ophthalmoplegia may also occur. For an objective assessment of clinical improvement during follow-up, the DS for motor functions can be used.

Retracted: Clinical and genetic evaluations of rare childhood epilepsies in Turkey's national cohort.

Aycan Ünalp, Yigithan Güzin, Bülent Ünay, Ayse Tosun, Dilek Çavusoglu, Hande Gazeteci Tekin, Semra Hiz Kurul, Ebru Arhan, Selvinaz Edizer, Gülten Öztürk, Uluç Yis, Ünsal Yilmaz, Turkish Rare Epilepsies Study Group, Clinical and genetic evaluations of rare childhood epilepsies in Turkey's national cohort, Epileptic Disorders, 2023, (https://doi.org/10.1002/epd2.20150) The above article, published online on 16 August 2023 on Wiley Online Library (www.onlinelibrary.wiley.com), has been retracted by agreement between the authors, the Editor-in-Chief, Sándor Beniczky, and John Wiley & Sons Ltd. The authors asked for a retraction based on an experimental error which would alter the results of the study if corrected.

Role of serostatus in pediatric neuromyelitis optica spectrum disorders: A nationwide multicentric study.

BACKGROUND: Neuromyelitis optica spectrum disorders (NMOSD) are immune-mediated inflammatory disorders of the central nervous system (CNS) mostly presenting as optic neuritis and acute myelitis. NMOSD can be associated with seropositivity for aquaporin 4 antibody (AQP4 IgG), myelin oligodendrocyte glycoprotein antibody (MOG IgG), or can be seronegative for both. In this study, we retrospectively examined our seropositive and seronegative pediatric NMOSD patients. METHOD: Data were collected from all participating centres nationwide. Patients diagnosed with NMOSD were divided into three subgroups according to serology: AQP4 IgG NMOSD, MOG IgG NMOSD, and double seronegative (DN) NMOSD. Patients with at least six months of follow-up were compared statistically. RESULTS: The study included 45 patients, 29 female and 16 male (ratio:1.8), mean age 15.16 ± 4.93 (range 5.5-27) years. Age at onset, clinical manifestations, and cerebrospinal fluid findings were similar between AQP4 IgG NMOSD (n = 17), MOG IgG NMOSD (n = 10), and DN NMOSD (n = 18) groups. A polyphasic course was more frequent in the AQP4 IgG and MOG IgG NMOSD groups than DN NMOSD (p = 0.007). The annualized relapse rate and rate of disability were similar between groups. Most common types of disability were related to optic pathway and spinal cord involvement. Rituximab in AQP4 IgG NMOSD, intravenous immunoglobulin in MOG IgG NMOSD, and azathioprine in DN NMOSD were usually preferred for maintenance treatment. CONCLUSION: In our series with a considerable number of double seronegatives, the three major serological groups of NMOSD were indistinguishable based on clinical and laboratory findings at initial presentation. Their outcome is similar in terms of disability, but seropositive patients should be more closely followed-up for relapses.

Changes in awake and sleep electroencephalography characteristics after 1-year treatment for childhood and juvenile absence epilepsy.

PURPOSE: To compare electroencephalography (EEG) features of newly diagnosed drug-naive childhood absence epilepsy (CAE) and juvenile absence epilepsy (JAE) patients and analyze their response to anti-seizure medications (ASMs). METHOD: EEG characteristics between CAE and JAE patients and responders and non-responders to ASM at baseline and 12 months were compared, and the changes from baseline were analysed. RESULTS: A total of 62 patients (32 CAE and 30 JAE) were included. Discharges in baseline awake and sleep EEGs and interictal and polyspike discharges in baseline sleep EEGs were more frequent in JAE patients. Although the median discharge densities (discharge containing seconds per minute) were similar in baseline awake and sleep EEGs between the groups, the median was higher in the JAE group at 12 months and decreased significantly in both groups at 12 months compared to the baseline values. Responses to initial ASMs were 94% and 77% in the CAE and JAE groups, respectively. In initial sleep EEGs of non-responders with JAE, focal onset generalized spike and slow wave discharges (GSWDs) were more frequent, and the median ictal and interictal discharge densities were higher. CONCLUSION: JAE patients had more frequent disorganized discharges at baseline in both awake and sleep EEGs and interictal and polyspike discharges in sleep EEGs than those of CAE patients. Improvement in EEG was more pronounced in CAE patients than in JAE patients. Focal-onset GSWDs and higher ictal and interictal discharge densities on baseline EEG were associated with a poor response to initial ASMs in JAE patients.

Kidney Stones in Epileptic Children Receiving Ketogenic Diet: Frequency and Risk Factors.

BACKGROUND: Although it is a valuable option for children with drug-resistant epilepsy, ketogenic diet (KD) therapy is associated with several side effects. The frequency of kidney stones and risk factors for their development in epileptic children receiving KD is unclear. The aim of this study was to determine the frequency and risk factors for the development of renal stones in children receiving KD therapy. METHODS: A total of 95 patients receiving KD were identified. Of these, seven patients were excluded from the study due to the duration of KD being less than 12 months. The remaining 88 children were enrolled in the study. RESULTS: Renal stones were detected in 15 patients (17%), of which 12 (73.3%) received potassium citrate treatment. Two (13.3%) patients needed lithotripsy despite receiving potassium citrate treatment, and one of these, who received potassium citrate treatment for 5 months, developed acute vesicourethral reflux and underwent surgery. No patient discontinued KD due to renal stone development. The serum uric acid concentrations and urine calcium/creatinine ratio did not change significantly over the 24-month follow-up period. Age, gender, etiology, age at seizure onset, duration of KD, mobility status, use of topiramate or zonisamide, and the number of antiepileptic drugs used were not significantly different between patients with and without kidney stones. CONCLUSION: Renal stone appears to be a common adverse effect of KD therapy. Although adequate hydration and potassium citrate treatment are effective in most patients, lithotripsy and surgery may be required in a minority of patients.

Pediatric-Onset Chronic Inflammatory Demyelinating Polyneuropathy: A Multicenter Study.

BACKGROUND: To evaluate the clinical features, demographic features, and treatment modalities of pediatric-onset chronic inflammatory demyelinating polyneuropathy (CIDP) in Turkey. METHODS: The clinical data of patients between January 2010 and December 2021 were reviewed retrospectively. The patients were evaluated according to the Joint Task Force of the European Federation of Neurological Societies and the Peripheral Nerve Society Guideline on the management of CIDP (2021). In addition, patients with typical CIDP were divided into two groups according to the first-line treatment modalities (group 1: IVIg only, group 2: IVIg + steroid). The patients were further divided into two separate groups based on their magnetic resonance imaging (MRI) characteristics. RESULTS: A total of 43 patients, 22 (51.2%) males and 21 (48.8%) females, were included in the study. There was a significant difference between pretreatment and post-treatment modified Rankin scale (mRS) scores (P < 0.05) of all patients. First-line treatments include intravenous immunoglobulin (IVIg) (n = 19, 44.2%), IVIg + steroids (n = 20, 46.5%), steroids (n = 1, 2.3%), IVIg + steroids + plasmapheresis (n = 1, 2.3%), and IVIg + plasmapheresis (n = 1, 2.3%). Alternative agent therapy consisted of azathioprine (n = 5), rituximab (n = 1), and azathioprine + mycophenolate mofetil + methotrexate (n = 1). There was no difference between the pretreatment and post-treatment mRS scores of groups 1 and 2 (P > 0.05); however, a significant decrease was found in the mRS scores of both groups with treatment (P < 0.05). The patients with abnormal MRI had significantly higher pretreatment mRS scores compared with the group with normal MRI (P < 0.05). CONCLUSIONS: This multicenter study demonstrated that first-line immunotherapy modalities (IVIg vs IVIg + steroids) had equal efficacy for the treatment of patients with CIDP. We also determined that MRI features might be associated with profound clinical features, but did not affect treatment response.

Clinical Features and Management of Status Epilepticus in the Pediatric Intensive Care Unit.

OBJECTIVES: Status epilepticus (SE) is associated with significant morbidity and mortality in children. SE in the pediatric intensive care unit (PICU) are not well characterized. The aim of this study is to retrospectively investigate the clinical features and treatment of seizures in children admitted to the PICU of our hospital. METHODS: We retrospectively examined the clinical characteristics of patients aged between 1 month and 18 years who were admitted to our hospital with SE or who were diagnosed with SE after hospitalization and were followed up with continuous electroencephalographic monitoring between January 2015 and December 2019. RESULTS: A total of 88 patients with SE, 50 (56.8%) boys and 38 (43.2%) girls, were included. The median age was 24 months (interquartile range, 12-80 months). When we evaluate the continuous electroencephalographic monitoring data, 27 (30.7%) were lateralized, 20 (22.7%) were multifocal, 30 (34.1%) were generalized, and 11 (12.5%) were bilateral independent epileptic activity. Seventy nine patients (89.8%) were evaluated as convulsive status epilepticus (CSE) and 9 (10.2%) as nonconvulsive status epilepticus (NCSE). Pediatric Risk of Mortality (PRISM III) score and mortality of patients with NCSE were higher ( P = 0.004 and P = 0.046, respectively). Thirteen eight patients (43.1%) were diagnosed as SE, 38 patients (43.1%) as refractory SE, and 12 patients (13.6%) as super-refractory SE. The overall mortality rate was 10.2%. CONCLUSIONS: Status epilepticus is a neurological emergency that causes mortality and morbidity. Electroencephalographic monitoring is important for the recognition of seizures and rapid intervention. No superiority of second-line treatments or combined treatments was demonstrated in patients with SE.

A rare case of hypomyelinating leukodystrophy-14 benefiting from ketogenic diet therapy.

BACKGROUND: Hypomyelinating leukodystrophy-14 (HLD14) is a rarely seen neurodevelopmental disease caused by homozygous pathogenic ubiquitin-fold modifier 1 gene variants. The disease has an autosomal recessive inheritance. All patients with this condition reported to date have drug-resistant epilepsy. The posttranslational modification of proteins with ubiquitin fold modifier 1 is defective in these patients and is thought to be responsible for severe neurodevelopmental problems. There is no previous report on the effectiveness of the ketogenic diet in the treatment of drug-resistant epileptic seizures in this disease. Therefore, we present a pediatric case diagnosed with HLD14 and whose drug-resistant epileptic seizures were controlled by ketogenic diet therapy. CASE: The patient was a three-year-old male with drug-resistant epilepsy and developmental delay. His brain magnetic resonance imaging revealed cerebellar atrophy, periventricular white matter hypomyelination, and ventricular enlargement. Whole-exome sequencing analysis identified a homozygous pathogenic variant in the ubiquitin-fold modifier 1 gene on chromosome 13q13. Ketogenic diet therapy was initiated for his drug-resistant seizures and subsequently reduced seizure frequency by more than 75%. The patient is still on ketogenic diet therapy. CONCLUSIONS: Ketogenic diet therapy may be beneficial for seizure control in HLD14 patients with drug-resistant seizures.

Pediatric Status Epilepticus Severity Score (STEPSS): Predictive Performance of Functional Outcomes: A Prospective Single-Center Study.

Objective: To prospectively investigate the predictive value of the modified Status Epilepticus Severity Score (STESS) for pediatric use (STEPSS) regarding unfavorable outcomes in the short term. Methods: Patients diagnosed as status epilepticus in the emergency department between January 2019 and June 2021 at a tertiary center of the University of Health Sciences, Dr. Behcet Uz Children's Hospital, were included in the study. The patients were followed up in the emergency department, neurology clinic, and pediatric intensive care unit until discharge. Demographic and clinical characteristics, STEPSS, and Pediatric Overall Performance Category Scale (POPC) scores were calculated. We defined a Pediatric Overall Performance Category Scale score ≥3 as an unfavorable outcome. We compared the effect of STEPSS on unfavorable outcomes and mortality. Results: 124 children were included. The median age was 33 months (interquartile range 16.2-84.7). Seventy-two (58.1%) patients had acute symptomatic etiology. We found that the STEPSS score with the receiver operating characteristic curve (area under the curve = 0.917, P < .001) could predict unfavorable outcomes (Pediatric Overall Performance Category Scale score ≥3) in children with status epilepticus. The Youden index (0.76) showed that a STEPSS score >2 was the optimal cutoff point for an unfavorable outcome. We found STEPSS useful in predicting mortality (area under the curve = 0.853, P < .001). The Youden index (0.58) indicated that a STEPSS >2 was the optimal cutoff for mortality: sensitivity 0.90 (95% confidence interval [CI] 0.58-0.99), specificity 0.67 (95% CI 0.57-0.77), positive predictive value 0.21, negative predictive value 0.98, positive likelihood ratio 2.7, negative likelihood ratio 0.14. Conclusion: We determined that STEPSS can be predicted unfavorable outcomes and mortality. We think that STEPSS can be used as a useful clinical score with further studies and external validations.

Evaluation of Quality of Life and Psychiatric Aspects of Children with Epilepsy and Their Families Using Self-assessment Questionnaires.

OBJECTIVE: The aim of this study was to compare sociodemographic characteristics, quality of life, and levels of depression and anxiety of children with epilepsy and their families with a healthy control group. MATERIALS AND METHODS: In this study, 60 epileptic children and their families were included. The data of these patients were compared with 51 healthy children and their families. The Children's Depression Inventory, Beck Depression and Anxiety Scale, State-Trait Anxiety Inventory for Children, KINDL General quality of life scale, KINDL-epilepsy module, and short form-36 were used to determine the depression, anxiety, and quality of life levels of children and parents. RESULTS: Depression and anxiety scale scores of the epilepsy group were statistically higher than the control group (P < .05). In the epilepsy group, the emotional well-being dimension on the KINDL parent scale and the total health, emotional well-being, family, and friends dimensions on the KINDL child scale were statistically lower than the healthy control group (P < .05). Short form-36 scores of the parents of the epilepsy group were statistically lower than the parents of the control group (P < .05). As the KINDL epilepsy quality of life dimension scores increased, the scores of the parental short form-36 quality of life scale scores increased. KINDL parental total scores were statistically lower in those with comorbidities than those without comorbidities. CONCLUSION: Monitoring for psychiatric comorbidities and quality of life status for both the child and the parents is recommended. Also, it should be emphasized that it would be more beneficial to use self-answered scales when assessing the quality of life of epileptic children.

Psychometric properties of the Turkish version of the Epilepsy Disclosure Scale - Youth and Parent Versions.

AIM: Due to reactions, such as being ridiculed, blamed, or rejected, children with epilepsy and their families may consider epilepsy as something to be ashamed of, and therefore both the child and parents hide the disease from other people. No valid and reliable measurement in Turkish language that evaluates the level of this behavior, which will greatly affect the management of epilepsy, in both children and parents has been found in the literature. This study was carried out to test the validity and reliability of the Epilepsy Disclosure Scale (EDS) - Youth and Parent Versions in Turkey. MATERIALS AND METHOD: A descriptive, comparative, correlational, and methodological design was used in the study. The study was carried out with 200 youth with epilepsy between the ages of 8 and 18, who were registered in the pediatric neurology outpatient clinic of a university hospital located in the western region of Turkey, and their parents. The study data were collected using a Descriptive Information Form and the Turkish version of the EDS-Y and the EDS-P. The data were evaluated using content validity index, explanatory and confirmatory factor analyses, Cronbach's alpha, split-half, and item-total score correlation. FINDINGS: The total explained variance of the Turkish version of the EDS-Y consisting of one sub-dimension and six items was determined as 53.55%, and the total explained variance of the Turkish version of the EDS-P consisting of one sub-dimension and six items was determined as 59.39%. Cronbach's alpha values were 0.864 for the overall Turkish EDS-Y and 0.881 for the EDS-P. According to the confirmatory factor analysis, the model fit indices of both scales were found to be above 0.90 and the factor loads of all items were greater than 0.40. CONCLUSION: The Turkish versions of the EDS-Y and EDS-P scales have acceptable internal consistency reliability and content and construct validity and can be used by health professionals to evaluate the concealment of epilepsy from the perspectives of both young people and parents.

Functional divergence of the two Elongator subcomplexes during neurodevelopment.

The highly conserved Elongator complex is a translational regulator that plays a critical role in neurodevelopment, neurological diseases, and brain tumors. Numerous clinically relevant variants have been reported in the catalytic Elp123 subcomplex, while no missense mutations in the accessory subcomplex Elp456 have been described. Here, we identify ELP4 and ELP6 variants in patients with developmental delay, epilepsy, intellectual disability, and motor dysfunction. We determine the structures of human and murine Elp456 subcomplexes and locate the mutated residues. We show that patient-derived mutations in Elp456 affect the tRNA modification activity of Elongator in vitro as well as in human and murine cells. Modeling the pathogenic variants in mice recapitulates the clinical features of the patients and reveals neuropathology that differs from the one caused by previously characterized Elp123 mutations. Our study demonstrates a direct correlation between Elp4 and Elp6 mutations, reduced Elongator activity, and neurological defects. Foremost, our data indicate previously unrecognized differences of the Elp123 and Elp456 subcomplexes for individual tRNA species, in different cell types and in different key steps during the neurodevelopment of higher organisms.

The effectiveness of the ketogenic diet in drug-resistant childhood epilepsy.

BACKGROUND: We aimed to investigate the effectiveness of ketogenic diet (KD) in children with various types of refractory epilepsy. METHODS: A total of 91 children (49 females) aged 3 to 193 months (median, 52 months) with drug resistant epilepsy who received KD treatment for at least 12 months were enrolled in the study. Seizure frequency, adherence to diet, reason for discontinuation of KD, and adverse effects were recorded. Response was defined as ≥50% improvement in seizure frequency compared to baseline. We also searched for influences of different variables on the outcome. RESULTS: Intent-to-treat analysis revealed an improvement in seizure frequency for ≥50% in 73.6%, 80.2%, 75.8%, 73.6%, and 70.3% of patients at month-1, -3, -6, -9, and month-12, respectively. Overall, 32 (35.2%) patients remained seizure-free at month-12. There was no significant differences between responders and nonresponders in terms of age at onset of epilepsy, age at onset of KD, gender, or etiology. Mild hyperlipidemia was associated with a higher response rate. At the last follow-up (median: 20 months), 38 (41.8%) patients were still maintained on KD. While 15.4% of patients completed the diet with a success in seizure control, remainder discontinued KD due to lack of efficacy (23.1%), non-adharence to diet (11%), intercurrent infection (4.4%), adverse effects (3.3%), and death (1.1%). CONCLUSION: Ketogenic diet treatment appears to be effective in about two-thirds of children with various types of drug-resistant epilepsy, including one-third remaining seizure free. Mild hyperlipidemia seems to be associated with a higher response rate. Discontinuation of KD is mostly due to lack of efficacy or nonadherence, and rarely side effects.

Spinal muscular atrophy with respiratory distress type 1 (SMARD1): a rare cause of hypotonia, diaphragmatic weakness, and respiratory failure in infants.

BACKGROUND: Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a very rare autosomal recessive disorder caused by mutations in the immunoglobulin µ-binding protein-2 (IGHMBP2) gene on chromosome 11q13.2-q13.4. The initial symptoms of patients with SMARD1 are respiratory distress and distal muscle weakness manifesting in the infantile period due to progressive degeneration of α-motor neurons. Preterm birth, intrauterine growth retardation, feet deformities, sensory and autonomic neuropathy are other main features. CASE: Herein, we report the characteristics of a 6-year-old Turkish girl with a diagnosis of SMARD1 confirmed by homozygous c.1738G > A (p.Val580Ile) missense IGHMBP2 variant. She had unusual features such as vocal cord paralysis, nystagmus, and lack of congenital foot deformities besides typical findings including hypotonia, respiratory distress, and diaphragmatic weakness in the early infantile period. Epileptic seizures, cognitive impairment, and brain magnetic resonance imaging (MRI) abnormalities were other, unexpected, features which developed during the course of the disorder possibly due to several hypoxic episodes. CONCLUSIONS: SMARD1 should be kept in mind in hypotonic infants with diaphragmatic weakness and respiratory failure during the early infantile period, even in the presence of unexpected findings including vocal cord paralysis, nystagmus, epileptic seizures, and brain MRI abnormalities.

Detection of Deregulated miRNAs in Childhood Epileptic Encephalopathies.

The term "epileptic encephalopathy" is used to describe a possible relationship between epilepsy and developmental delay. The pathogenesis of developmental encephalopathies, independent of epilepsy, can be defined by genetic control mechanisms. The aim of this study was to investigate the use of miRNAs as serum biomarkers for the determination and discrimination of epileptic encephalopathies. Whole blood samples obtained from 54 individuals in 2 groups designated as epileptic encephalopathy patients' group (n = 24) and healthy controls (n = 30) were included in this study. The expression levels of 10 miRNAs were determined using qRT-PCR. After the determination of expression levels, the correlation of upregulated miRNA levels and Ki67 index was calculated using Pearson correlation test. The comparison of epileptic encephalopathy patients' group with healthy controls revealed the upregulation of one miRNAs (hsa-miR-324-5p) and downregulation of three miRNAs (hsa-miR-146a-5p, hsa-miR-138-5p, hsa-miR-187-3p). It has been determined that miRNAs with altered expression are an important factor in the formation of epileptic seizures and seizure-induced neuronal death. The fact that processes that play a key role in epiloptogenesis are under the control of miRNAs causes miRNAs to become meta-controllers of gene expression in the brain. We thought that further studies are needed to prove that especially hsa-miR-146a-5p, hsa-miR-138-5p, and hsa-miR-187-3p can be used as epileptic encephalopathy biomarkers. The detection of disease-specific miRNAs could contribute to the development of precision treatments.

Psychometric properties of a Turkish version of the quality of life in childhood epilepsy questionnaire.

BACKGROUND: Epilepsy is a neurological disease that requires long-term treatment and monitoring and causes significant restrictions in physical, emotional, intellectual, and social life that negatively affect the quality of life of the individual. This study aimed to test the validity and reliability of the Quality of Life in Childhood Epilepsy Questionnaire in Turkey. METHODS: The study was conducted on 421 parents using a descriptive correlational method. The data of the study were collected using a Descriptive Information Form and the Quality of Life in Childhood Epilepsy Questionnaire. Data analysis and evaluation were performed using factor analysis, Cronbach's alpha, and item-total score correlation. FINDINGS: The scale consists of 16 items and four sub-dimensions. The four sub-dimensions recorded a variance of 87.83%. Cronbach's alpha coefficient of the Turkish version of the scale was 0.96. The two-month test-retest reliability evaluated with intra-class correlation was 0.85. Confirmatory factor analysis indicated, the model fit index results were recorded as follows: 0.93 as the Goodness-of-Fit Index; comparative fit index, 0.98 and non-normed fit index (NNFI), 0.97. CONCLUSIONS: The study determined that the Turkish version of the Quality of Life in Childhood Epilepsy Questionnaire (QOLCE-16) is a valid and reliable measurement tool when used to measure quality of life for Turkish children with epilepsy. PRACTICE IMPLICATIONS: It is recommended that the health-related quality of life should be evaluated to assess the treatment of children with epilepsy and to intervene early in potential risk factors associated with the disease management process. All healthcare professionals can use this scale in interventional studies aiming at evaluating or improving the quality of life of children with epilepsy.

Benefits of ketogenic diet in a pediatric patient with Ehlers-Danlos syndrome and STXBP1-related epileptic encephalopathy.

PURPOSE/AIM: Ehlers-Danlos syndrome (EDS) is a hereditary connective tissue disease. Epilepsy is not a common neurological finding in EDS. Here we report a pediatric patient with EDS comorbid with STXBP1 related epileptic encephalopathy as 'electrical status epilepticus during slow-wave sleep (ESES)' and whose refractory epileptic seizures were controlled with ketogenic diet. CASE REPORT: A 6-year-old girl who had EDS presented with refractory seizures and worsening cognitive functions. Her sleep electroencephalography (EEG) revealed electrical status epilepticus during slow-wave sleep (ESES). The epileptic encephalopathy panel revealed a de novo c.560C > T (p.pro187Leu) heterozygous mutation in the STXPB1 gene. Ketogenic diet treatment was started for her refractory seizures and seizures stopped in the third month of the 3:1 classical ketogenic diet. CONCLUSION: Our case is remarkable due to the coexistence of EDS and epileptic encephalopathy as well as ESES findings in STXBP1-associated epileptic encephalopathy and is therefore presented. Ketogenic diet would be beneficial on the management of refractory seizures in STXBP1-related epileptic encephalopathy and ESES.