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.

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.

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.

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.

Evaluation of the effects of ketogenic diet therapy on sleep quality in children with drug-resistant epilepsy and their mothers.

BACKGROUND: Sleep disorders are common in drug-resistant children with epilepsy and their mothers. Ketogenic diet therapy (KDT) may have positive effects on sleep quality. The aim of this study was to evaluate the sleep quality of children with epilepsy and their mothers after starting KDT. METHODS: Using a prospective cross-sectional model, pre- and post-KDT questionnaires were given to the study subjects. A children's sleep habits questionnaire was administered to children with epilepsy, and the Pittsburgh sleep questionnaire was administered to their mothers. Sociodemographic and some clinical categorical variables of the patient group were evaluated using descriptive statistics. Evaluation of the data was conducted using the Wilcoxon and paired t-tests as parametric and non-parametric tests. RESULTS: Of 24 patients scheduled to begin KDT between January 2019 and January 2020, 14 were included in the study. Regarding sleep quality, improvement was reported in 7 (50%) of 14 patients, deterioration in 5 (35.7%) patients, and no change was seen in 2 (14.3%) patients. Sleep quality was reported to improve in all working mothers. Seven (50%) patients reported no seizures and 6 (42.9%) patients reported more than 50% seizure reduction. Although there were improvements in sleep scores in both groups, these improvements were not statistically significant. A significant decrease in sleep anxiety was reported in children after the third month of the KDT (p = 0.09). CONCLUSIONS: The results of this study determined that three months of KDT offered significant improvement on the sleep anxiety of children with epilepsy. It was thought that paying attention to patient selection may lead to better sleep quality by increasing compliance to KDT. However, a larger scale study and longer term follow-up should be done.

The effect of ketogenic diet on thyroid functions in children with drug-resistant epilepsy.

BACKGROUND: Ketogenic diet (KD) remains a valuable treatment option for children with drug-resistant epilepsy. However, it may cause many well-known adverse effects such as dyslipidemia or kidney stones. But, its effects on thyroid functions are largely unknown. PURPOSE: The aim of this study was to investigate the effects of the KD on thyroid functions in children with drug-resistant epilepsy. METHOD: A total of 66 children (35 females) aged 3-193 months (median, 52 months) with drug-resistant epilepsy who received a KD for at least 12 months were enrolled in the study. All children were started on KD with 3:1 ratio which was then adjusted as clinically necessary. Serum free-thyroxine (FT4) and thyroid stimulating hormone (TSH) concentrations were measured before starting treatment and at the first, sixth and twelfth months of treatment. Changes in FT4 and TSH concentrations over 12 months were analyzed. RESULTS: Median serum FT4 and TSH concentrations, and the frequencies of patients with low FT4 and high TSH concentrations did not change significantly in the study sample over the 12-month study period. Serum FT4 levels increased significantly and TSH concentrations decreased insignificantly in four patients receiving L-thyroxine replacement therapy. During the 12-month treatment period, BMI-SDS increased, and the number of antiepileptic drugs decreased significantly. CONCLUSION: It appears that KD therapy does not impair thyroid functions in children with drug-resistant epilepsy. KD can be used safely along with L-thyroxine replacement even in children with pre-existing subclinical hypothyroidism.

Evaluation of clinical findings and neurofibromatosis type 1 bright objects on brain magnetic resonance images of 60 Turkish patients with NF1 gene variants.

Neurofibromatosis type 1 (NF1) is caused by mutations in the NF1 gene. This retrospective study aims to evaluate the clinical manifestations and brain magnetic resonance images (MRI) analysis in 60 genetically confirmed NF1 patients. The results of next-generation sequencing (NGS), Sanger sequencing, and MLPA of NF1 gene were evaluated. A total of 54 different variants were identified. Fourteen out of them were novel variants (25.9%). Patients who complied with NIH criteria had most frequently frameshift variants (11/32 patients), and those with only CALMs had missense variants (9/28 patients). Neurofibromatosis type 1 bright objects (NBOs) on T2-weighted MRI were detected in 42 patients (42/56; 75%). These brain lesions were detected mostly in basal ganglia and in cerebellar vermis. NBOs were detected more in the patients who complied with NIH criteria (80.6%) compared to those who were only CALMs (68%). While frameshift variants (33.3%) were the most common type variants in the patients who had NBOs, the most common variants were splicing (35.7%) and missense (35.7%) variants in the patients whose MRIs were normal. Frameshift variants (11/28 patients; 39.3%) were the most common in the patients with more than one brain locus involvement. Therefore, we consider that frameshift variants may be associated with increased incidence of NBOs and involvement of more than one brain locus. In addition, NBOs may occur less frequently in the patients with splicing variants. To our knowledge, this is the first study evaluated the relationship between NF1 gene variants and NBOs. Future studies may help us understand the etiology of NBOs.

Neuronal ceroid lipofuscinosis: genetic and phenotypic spectrum of 14 patients from Turkey.

INTRODUCTION AND PURPOSE: Neuronal ceroid lipofuscinoses (NCLs) is a group of congenital metabolic diseases where the neurodegenerative process with the accumulation of ceroid and lipofuscin autofluorescent storage materials is at the forefront. According to the age of presentation, NCLs are classified as congenital, infantile (INCL), late infantile (LINCL), juvenile (JNCL), and adult (ANCL) NCLs. In our study, it was aimed to discuss the clinical and molecular characteristics of our patients diagnosed with NCL. MATERIAL AND METHOD: This is a descriptive cross-sectional study which was conducted in 14 patients from 10 unrelated families who were diagnosed with different types of NCL based on clinical presentation, neuroimaging, biochemical measurements, and molecular analyses, at the department of pediatric metabolism between June 2015 and June 2020. RESULTS: A total of 14 patients were diagnosed with different types of NCL. Of those, 4 patients were diagnosed with NCL7 (4/14; 30%), 3/14 (23%) with NCL1, 3/14 (23%) with NCL2, 2/14 (14.2%) with NCL13, and 1/14 (7.1%) with NCL10. Eleven pathogenic variants were detected, 5 of which are novel (c.721G>T [p.Gly241Ter] and c.301G>C [p.Ala146Pro] in MFDS8 gene; c.316C>T [p.Gln106Ter] in PPT1 gene; c.341C>T [p.Ala114Val] in TPP1 gene; c.686A>T [p.Glu229Val] in CTSD gene) CONCLUSION: This study is one of the pioneer comprehensive researches from Turkey that provides information about disease-causing variants and clinical presentation of different and rare types of NCLs. The identification of novel variants and phenotypic expansion is important for genetic counselling in Turkey and expected to improve understanding of NCLs.

Inborn errors of metabolism in palliative care.

BACKGROUND: In parallel with the increase in the number of children with life-limiting or life-threatening diseases, the need for and right to pediatric palliative care is also increasing. This study aimed to examine the metabolic diseases, evaluate the symptoms, and review the needs of children who were admitted to the pediatric palliative care service. METHODS: Following the approval of the local ethics committee (18/7/2019-107), the computer records of patients hospitalized in the pediatric palliative care service between December 1, 2018 and January 6, 2019 were reviewed retrospectively. Dr Behçet Uz Children's Hospital, Pediatric Palliative Care Center is third center in Turkey. Our pediatric palliative care center has one year of experience. RESULTS: In the study period, there were 101 patients who were hospitalized in the pediatric palliative care service. Eighteen patients (19.7%) diagnosed with inborn errors of metabolism were included in the study. The mean age was 3.2 ± 2.1 (0-8) years. Although it could not be shown statistically, the duration of hospitalization of patients with congenital malformation was long. CONCLUSION: Pediatric palliative care provides the best care with the control of various symptoms in neurodegenerative congenital metabolic diseases that do not have treatment or treatment, but progressive symptoms cannot be prevented.

Pediatric emergency department visit characteristics of the patients on the ketogenic diet.

BACKGROUND: The ketogenic diet (KD) has been frequently used for the patients with drug-resistant epilepsy in recent years. The management of these patients in emergency departments (EDs) has some difficulties due to the special needs of KD. We aimed to determine the characteristics and the management of the patients on the KD in the pediatric ED setting. METHODS: Patients who were on the KD and admitted to the ED were included in the study. Demographic, clinical, and laboratory data of all patients were retrospectively reviewed and recorded. RESULTS: There were 105 emergency admissions of 27 patients. The median age of all patients was 55.0 (IQR: 29.0-91.0) months. The most common symptom was vomiting (43.8%). Four patients had upper gastrointestinal bleeding, and one patient had hyperammonemic acute hepatic failure while receiving KD. Of the patients, 41.9% had seizure-related ED admission. Infections were present in 41.9% of the ED visits. The frequency of status epilepticus was significantly lower in the patients who were on the KD for more than 6 months (p < 0.01). In 42.9% of all ED admissions, dextrose containing maintenance fluids was administered mistakenly; although ketosis rate was lower, no seizure was observed in this group. CONCLUSION: The patients on the KD can be admitted to EDs with intercurrent illnesses or adverse effects of the KD. For accurate management, emergency physicians must be aware of the common reasons for ED admission of these patients and the effects of the KD.

Multiple Sclerosis with Onset Younger Than 10 Years in Turkey.

OBJECTIVE: To identify the demographics, clinical characteristics, disease course, treatment patterns, and disability levels of multiple sclerosis (MS) patients with onset under the age of 10 years (early onset multiple sclerosis, EOMS). METHODS: EOMS patients were reviewed retrospectively in detailed records from 27 child neurology centers. Patients with preschool (≤7 years) and school age (>7 years) onset were compared. RESULTS: There were 30 children (16 girls, 14 boys) who have disease onset between 4 and 10 (mean8.1 ± 1.8) years. MS was relapsing-remitting in 29 (96.7%) and primary progressive in one (3.3%) of the patients. In patients with onset ≤7 years, motor symptoms (54.5%) and encephalopathy (45.5%) predominated, while in those with onset >7 years brainstem (42.1%), sensory (26.3%), and optic nerve (26.3%) involvement were the most frequent presentations. CONCLUSIONS: MS starting ≤7 years differs from the 7-10-year-old group by the higher rate of motor symptoms and more attacks in the first year: the latter suggests a more inflammatory character for EOMS.

The Impact of 3:1 Ketogenic Diet on Cardiac Repolarization Changes in Children with Refractory Seizures: A Prospective Follow-Up Study.

Background The association between ketogenic diet (KD) and prolonged QT interval, life-threatening ventricular arrhythmias, and sudden death is controversial. Aim We aimed to prospectively evaluate the effect of KD on electrocardiography (ECG) measures in children with refractory epilepsy. Method A total of 70 children with drug-resistant epilepsy who received a KD for at least 12 months were included in the study. The standard 12-lead electrocardiography was performed in all patients before the beginning and in the 12th month of KD. Heart rate, P-wave duration and dispersion, corrected QT interval and QT dispersion, and Tp-e interval were measured. Results All ECG-derived parameters, but P-wave dispersion increased after 12 months of KD compared with the baseline values. However, these changes were not statistically significant. Conclusion A 12-month long 3:1 KD treatment exerts no deleterious effect on cardiac repolarization measures.

Guillain-Barre syndrome in a 7-month-old boy successfully applied plasma exchange.

Despite being the most common cause of acute flaccid paralysis in children Guillain-Barré syndrome has a low incidence under 18 years old, and is even rarer under the age of 2. Established treatment regimens include intravenous immunoglobulin and plasma exchange in older children and adults. However very limited data are available for the efficacy and safety of plasma exchange in infants younger than 12 month-old. This article presents the experience of plasma exchange in the case of 7-month-old boy diagnosed with Guillain-Barré syndrome. A 7-month-old boy was referred to the pediatric intensive care unit with a 10-day history of progressive weakness, feeding difficulty and constipation. He was diagnosed with axonal Guillain-Barré syndrome on the basis of clinical and electromyographical findings. The patient recovered fully with intravenous immunoglobulin and plasma exchange. Plasma exchange may be a safe option in the treatment in infants with Guillain-Barré syndrome as young as 7-month-age.

The effect of olive oil-based ketogenic diet on serum lipid levels in epileptic children.

Ketogenic diet (KD) is one of the most effective therapies for intractable epilepsy. Olive oil is rich in monounsaturated fatty acids and antioxidant molecules and has some beneficial effects on lipid profile, inflammation and oxidant status. The aim of this study was to evaluate the serum lipid levels of children who were receiving olive oil-based KD for intractable seizures at least 1 year. 121 patients (mean age 7.45 ± 4.21 years, 57 girls) were enrolled. At baseline and post-treatment 1, 3, 6, and 12 months body mass index-SDS, total cholesterol, high-density lipoprotein (HDL) cholesterol, low-density lipoprotein (LDL) cholesterol and triglyceride levels were measured. Repeated measure ANOVA with post hoc Bonferroni correction was used for data analysis. The mean duration of KD was 15.4 ± 4.1 months. Mean total cholesterol, LDL-cholesterol and triglyceride levels were significantly higher at 1st, 3rd, 6th and 12th months of the KD treatment, compared to pre-treatment levels (p = 0.001), but showed no difference among during-treatment measurements. Mean body mass index-SDS and HDL-cholesterol levels were not different among the baseline and follow-up time points (p = 0.113 and p = 0.067, respectively). No child in this study discontinued the KD because of dyslipidemia. Even if rich in olive oil, high-fat KD causes significant increase in LDL-cholesterol and triglyceride levels. More studies are needed to determine the effect of KD on serum lipids in children using different fat sources in the diet.

Opsoclonus-myoclonus syndrome following rotavirus gastroenteritis.

Opsoclonus-myoclonus syndrome (OMS) is a rare neurologic disorder characterized by opsoclonus, myoclonus, ataxia and behavioral disturbance. In the pathogenesis, an autoimmune process with infectious or paraneoplastic trigger has been suggested. We describe the case of a 22-month-old girl with OMS following rotavirus gastroenteritis. Rotavirus should be considered in the differential diagnosis of OMS in children.

The value of neurologic and cardiologic assessment in breath holding spells.

Objective : To evaluate the value of neurologic and cardiologic assessment and also the frequency of iron deficiency anemia in children with Breath Holding Spells (BHS). Methods : The hospital charts of patients diagnosed with BHS between 2011 and 2013 were reviewed retrospectively. Results : A total of 165 children (90 boys, 75 girls) with BHS comprised the study group. A matched group of 200 children with febrile convulsions served as controls. Among the first-degree relatives, 13.3% had BHS, 1.8% had febrile convulsions and 12.1% had epilepsy. The spells were cyanotic in 140 (84.8%) children and pallid or mixed in the remainder. BNS type was simple in 46.7% of patients and complicated in the remainder. Eighteen patients had abnormalities in electroencephalography, however only one patient was diagnosed with epilepsy. Sixty nine (47.9%) patients were found to have iron deficiency anemia. Conclusion : Referral of children with clinically definite BHS to pediatric neurology or pediatric cardiology clinics and performance of echocardiography and EEG investigations for exclusion of heart disease or epilepsy appear unnecessary. However, performance of an electrocardiogram to search for prolonged QT syndrome should be considered although no patient in our series had any cardiologic abnormalities.

The effect of illness-related fears of parents of children with epilepsy during the COVID-19 period on their children's seizure self-efficacy.

BACKGROUND: Seizure-related self-efficacy is the belief individuals have that they can perform the necessary actions to cope effectively with their seizures. Determining, developing, strengthening, and maintaining the perception of self-efficacy in children with epilepsy facilitates the child's disease management and their ability to cope with it. This study aimed to assess the impact of epilepsy-related parental fears during the COVID-19 period on the seizure self-efficacy of their children. METHODS: A total of 321 children with epilepsy and their parents participated in this descriptive, correlational, and cross-sectional study. Data were collected through the Descriptive Information Form, the Seizure Self-Efficacy Scale for Children (SSES-C), and the Epilepsy-Related Fears in Parents Questionnaire (EFPQ). Descriptive statistics, including frequency, percentage, and mean scores, were used to analyze the characteristics of the children and their parents. The Shapiro-Wilk test was utilized to assess the normality of the scale data. Pearson correlation analysis examined the relationship between parents' epilepsy-related fears and their children's seizure self-efficacy, while multiple regression analysis determined the effect of parental fears on children's seizure self-efficacy. RESULTS: The mean age of children included in the study was 12.65±2.37 years. Analysis revealed a strong and significant negative correlation between parents' epilepsy-related fears during the COVID-19 period and the seizure self-efficacy of their children. In the model created with regression analysis, The mean scores of parents on the short-term fears of parents about epilepsy of the EFPQ explained 85 % of children's seizure self-efficacy. The mean scores of parents on the long-term fears of parents about epilepsy of the EFPQ explained 85 % of children's seizure self-efficacy. It was determined that all of these variables together explained 85 % of the seizure self-efficacy of children with epilepsy. CONCLUSION: The findings of the study underscore the importance of addressing parents' fears regarding epilepsy, emphasizing the need for healthcare professionals to be aware of and provide support for these concerns. Future studies should focus on interventions to enhance the seizure self-efficacy of children with epilepsy.

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.

Optic neuritis in Turkish children and adolescents: A multicenter retrospective study.

BACKGROUND: Various etiologies may underlie optic neuritis, including autoantibody-mediated disorders described in the last decade. We re-examined demographic, clinical, laboratory features and prognostic factors in pediatric patients with autoimmune optic neuritis according to current knowledge. METHODS: Cases of pediatric ON from 27 centers in Türkiye diagnosed between 2009 and 2022 were included for retrospective evaluation. RESULTS: The study included 279 patients, 174 females and 105 males, with a female-to-male ratio of 1.65. The average age at onset was 12.8 ± 3.4 years, and mean follow-up, 2.1 years (range: 1-12.1 years). Patients <10 years old were grouped as "prepubertal" and those ≥10 years old as "others". The diagnoses made at the end of follow-up were multiple sclerosis associated optic neuritis (n = 90, 32.3 %), single isolated optic neuritis (n = 86, 31 %), clinically isolated syndrome (n = 41, 14.7 %), myelin oligodendrocyte glycoprotein antibody associated optic neuritis (n = 22, 7.9 %), and relapsing isolated optic neuritis (n = 18, 6.5 %). Predominant diagnoses were myelin oligodendrocyte glycoprotein antibody associated optic neuritis and acute disseminated encephalomyelitis associated optic neuritis in the prepubertal group and multiple sclerosis associated optic neuritis in the older group. Recurrences were observed in 67 (24 %) patients, including 28 with multiple sclerosis associated optic neuritis, 18 with relapsing isolated optic neuritis, 11 with myelin oligodendrocyte glycoprotein antibody associated optic neuritis, 8 with aquaporin-4 antibody related optic neuritis, and 2 with chronic relapsing inflammatory optic neuropathy. Recurrences were more common among female patients. Findings supporting the diagnosis of multiple sclerosis included age of onset ≥ 10 years (OR=1.24, p = 0.027), the presence of cranial MRI lesions (OR=26.92, p<0.001), and oligoclonal bands (OR=9.7, p = 0.001). Treatment in the acute phase consisted of intravenous pulse methylprednisolone (n = 46, 16.5 %), pulse methylprednisolone with an oral taper (n = 212, 76 %), and combinations of pulse methylprednisolone, plasmapheresis, or intravenous immunoglobulin (n = 21, 7.5 %). Outcome at 12 months was satisfactory, with 247 out of 279 patients (88.5 %) demonstrating complete recovery. Thirty-two patients exhibited incomplete recovery and further combination treatments were applied. Specifically, patients with relapsing isolated optic neuritis and aquaporin-4 antibody related optic neuritis displayed a less favorable prognosis. CONCLUSION: Our results suggest optic neuritis is frequently bilateral in prepubertal and unilateral in peri­ or postpubertal patients. Age of onset 10 or older, presence of oligoclonal bands, and brain MRI findings reliably predict the development of multiple sclerosis. The risk of developing multiple sclerosis increases mostly during the second and third years of follow-up. Relapsing isolated optic neuritis remains a separate group where the pathogenesis and outcome remain unclear. Investigation of predisposing and diagnostic biomarkers and long follow-up could help to define this group.

Childhood paroxysmal nonepileptic events.

We aimed to determine the types and clinical characteristics of paroxysmal nonepileptic events (PNEs) in children. During a 13-year period, 765 patients underwent long-term video-EEG monitoring, and 95 (12.4%) of them were identified to have PNEs. The most common diagnoses were conversion disorder, parasomnias, staring spells, movement disorders, and hypnic jerks. Paroxysmal nonepileptic events originated from physiologic or organic (43.2%) and psychogenic (56.8%) causes. Mean delay in diagnosis was 3.1 years. Mean ages at diagnosis were 8.8 and 13.8 years in physiologic or organic and psychogenic groups, respectively. A marked female predominance was seen in the psychogenic group, whereas males slightly predominated in the physiologic or organic group. In the physiologic or organic group, events were less frequent, longer in duration, and commonly manifested as subtle motor activity, whereas subtle and prominent motor activities were encountered equally in both groups. Concomitant epilepsy was present in 10.5% of the patients. Differences in clinical characteristics may be helpful in differentiating physiologic or organic PNEs in children from psychogenic PNEs.