Comparative Efficacy of Ferrous, Ferric and Liposomal Iron Preparations for Prophylaxis in Infants.

OBJECTIVES: This study aimed to assess the efficacy of different oral iron preparations prescribed for prevention of iron deficiency anemia in healthy infants. METHODS: This retrospective study enrolled infants aged between 6 and 12 months who were initiated on iron prophylaxis at four months of age. Enrolled children consistently used specific iron preparations (ferrous, ferric or liposomal iron) and had their complete blood counts and serum ferritin levels assessed within the 6-12 month timeframe. Blood values and iron prophylaxis type (ferrous (Fe+2), ferric (Fe+3), liposomal iron) were recorded. Chi-square test was used to compare the hemoglobin and ferritin levels levels between groups. Univariate and multivariate regression analyses assessed the risk of anemia. RESULTS: The study included 371 children (ferrous sulphate - 60, iron hydroxide-polymaltose complex - 137 and liposomal ferric pyrophosphate - 174) with a mean (SD) age 9.1 (1.3) mo. Iron deficiency in different groups were: liposomal iron (46.0%), ferric iron (44.5%), and ferrous iron (5.0%). Mean (SD) serum ferritin levels (µg/L) were higher in the ferrous group [30.1 (10.8)] compared to infants receiving ferric [17.6 (14.50)] and liposomal iron [15.4 (12.1)] (P < 0.001). Mean (SD) hemoglobin levels (g/dL) were significantly higher in the ferrous group [12.4 (0.8)] compared to ferric [11.9 (1.1)] and liposomal iron group [12.0 (1.1)]; P =0.008. Multiple regression analysis showed that ferrous group was associated with a lower risk of iron deficiency [OR (95% CI) 0.04 (0.01-0.15), P < 0.001]. CONCLUSION: A particular type of airway anomaly may have a characteristic graphic pattern in TBFVL and TBFVL pattern may indicate improvement in airway anomalies in follow-up.

Immunity Rates of Live Viral Vaccines in Pediatric Renal Transplant Candidates: A Single-Center Experience.

OBJECTIVES: Solid-organ transplant recipients are at an increased risk of severe infections due to their immunosuppressed state. Despite the recommendation of routine screening and vaccination before transplant to mitigate this danger, vaccination rates in these patients are still below desirable levels. We aimed to investigate the prevalence of positive antibody rates for measles, mumps, rubella, and varicella among children who are candidates for renal transplant. MATERIALS AND METHODS: This retrospective study was conducted at a single center and included 144 pediatric kidney transplant patients for the past 7 years. We reviewed the medical records of all participants to evaluate their serologic status for measles, mumps, rubella, and varicella viruses before kidney transplant. RESULTS: In this study, 144 pediatric kidney transplant candidates (mean age 11.5 years, 56.9% male) were enrolled, and the most frequent causes of the chronic renal disease were congenital anomalies of the kidney and urinary tract and glomerular diseases (32.6%). Seropositivity rates for measles, mumps, rubella, and varicella were 59.0%, 31.9%, 46.5%, and 43.6%, respectively, and all patients who tested negative for antibodies were vaccinated before transplant. Younger age at transplant (OR = 0.909, 95% CI = 0.840-0.923; P = .017) and congenital anomalies of the kidney and urinary tract (OR = 3.46, 95% CI = 1.1548-7.735; P = .002) were significantly associated with increased measles seropositivity, although no significant associations were observed for the other viruses. CONCLUSIONS: We observed lower seropositivity rates for measles, mumps, rubella, and varicella in pediatric kidney transplant patients versus healthy children and other previous studies. It is essential to address these suboptimal rates to protect the health of these vulnerable patients. Future research should focus on targeted interventions to improve vaccination rates and outcomes in this population.

The relationship between mothers' Instagram follower count and the concept of sharenting.

BACKGROUND: The phenomenon of sharenting has led to an increase in children's digital presence on social media platforms, particularly Instagram. This study aimed to examine the relationship between features of mothers' Instagram use and their sharing of photos related to their children. METHODS: The present study was conducted with 130 mothers of children who applied to our university hospital and who had an Instagram account and allowed us to follow them. The mothers completed an online questionnaire that consisted of parents' sociodemographic data and data regarding social media use characteristics. We created a new Instagram account for this study, and we examined the mothers' Instagrams via this account. The number of Instagram followers was analyzed by dividing it into four equal 25% percentiles. RESULTS: The present study found that mothers with more followers shared more photos about themselves and their children on Instagram per year (p < 0.001). It was confirmed that mothers with more followers were more likely to share their children's photos showing them alone, showing them playing, photos that included identity information, and photos that violated their privacy (p values respectively; p = 0.004, p = 0.001, p = 0.043, p = 0.015). CONCLUSIONS: This study highlights the association between mothers' Instagram follower numbers and the presence of risky posts about their children on social media. The number of Instagram followers might serve as a predictor of sharenting behavior. The study's findings are discussed thoroughly, and recommendations are provided for future research and practice in this area.

A Multicenter Study of Self-Limited Epilepsy With Centrotemporal Spikes: Effectiveness of Antiseizure Medication With Respect to Spike-Wave Index.

BACKGROUND: There is no certain validated electroencephalographic (EEG) parameters for outcome prediction in children with self-limited epilepsy with centrotemporal spikes. To assess the effectiveness of antiseizure medication (ASM) for seizure outcome with respect to the spike-wave index (SWI) on serial EEG recordings. METHODS: In this multicenter study, the study cohort consisted of 604 children with self-limited epilepsy with centrotemporal spikes. A data set of epilepsy centers follow-up between 2010 and 2022. The cohort was divided into 4 groups as those receiving 3 different monotherapy (carbamazepine [CBZ]/valproic acid [VPA]/levetiracetam [LEV]) and dual therapy. SWI analysis was performed with the percent of spikes in the 2-minute epoch in the 5th 6th minutes of the nonrapid eye movement sleep EEG record. The study group were also categorized according to seizure burden with seizure frequency (I) >2 seizures and (II) >5 seizures. Seizure outcome was evaluated based on the reduction in seizure frequency over 6-month periods: (1) 50% reduction and (2) seizure-free (complete response). RESULTS: ASM monotherapy was achieved in 74.5% children with VPA, CBZ, and LEV with similar rates of 85.8%, 85.7%, and 77.9%. Dual therapy was need in the 25.5% of children with SeLECT. More dual therapy was administered in children aged below 5 years with a rate of 46.2%. Earlier seizure-free achievement time was seen in children with LEV monotherapy with more complete-response rate (86.7%) compared the VPA and CBZ. CONCLUSIONS: We also determined that the children on dual therapy had more SWI clearance in the subsequent EEG recordings. The ROC curve analyses were performed to predict initial drug selection with using the SWI% might be used for the prediction of ASM type and drug selection in children.

Evaluation of vitamin B12 values at time of diagnosis in 0- to 36-month-old children with food allergies.

OBJECTIVES: The relationship between food allergies and vitamin B12 deficiency in young children remains unclear despite extensive studies on the nutritional status of affected children. The aim of this study was to compare vitamin B12 levels in children with recently diagnosed food allergies and healthy children ages 0 to 36 mo. METHODS: A retrospective study at Baskent University Hospital analyzed 773 patients ages 0 to 36 mo. Participants were divided into two groups: food allergy and healthy. Vitamin B12 deficiency (<300 ng/mL) was assessed using χ2 tests and regression analyses. RESULTS: The sample comprised 773 children ages 0 to 36 mo, with a mean age of 16 ± 9 mo (range: 1-36). Among the participants, 399 (52%) were healthy children, whereas 374 (48%) had food allergies. The prevalence of vitamin B12 deficiency was higher in children with food allergies (38%) than in healthy children (21%; P < 0.001). According to both univariate and multivariate regression analyses, formula feeding showed a negative association with vitamin B12 deficiency (ß = -0.54; 95% confidence interval [CI], 0.35-0.97; P = 0.038). On the other hand, having allergic diseases (ß = 0.69; 95% CI, 0.30-0.83; P = 0.040) and breastfeeding for <6 mo (ß = 1.35; 95% CI, 1.41-10.50-0.50; P = 0.009) exhibited a positive association with vitamin B12 deficiency. CONCLUSION: Food-allergic children ages 0 to 36 mo were at higher risk for vitamin B12 deficiency. Formula feeding had a protective effect, whereas allergic diseases and breastfeeding for <6 mo were risk factors. Further investigation is needed to understand the underlying mechanisms. Monitoring B12 levels and interventions are crucial for the nutritional well-being of food-allergic children.

Perspectives of Family Caregivers of People With Alzheimer's Disease on Caregiving Experience and Needs: A Qualitative Study.

The current study aimed to investigate the perspectives of family caregivers of people with Alzheimer's disease on caregiving experience and needs. A qualitative descriptive method was used with a sample of 23 family caregivers. Data were collected through in-depth, face-to-face interviews using a pilot-tested semi-structured interview guide. Data analysis was performed via content analysis. Three major themes emerged: (1) Stuck in Caregiving, (2) A Life in Metamorphosis, and (3) Needs. Findings revealed that caregivers struggled to manage the care process, adapt to life changes, and fulfill their needs. This study provides rich data to help create interventions to assist family caregivers. [Journal of Psychosocial Nursing and Mental Health Services, xx(xx), xx-xx.].

Shared Biological Pathways and Processes in Patients with Intellectual Disability: A Multicenter Study.

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.

Clinical and genetic spectrum from a prototype of ciliopathy: Joubert syndrome.

OBJECTIVE: Joubert syndrome is a neurodevelopmental disorder with a distinctive hindbrain malformation called molar tooth sign, causing motor and cognitive impairments. More than 40 genes have been associated with Joubert syndrome. We aim to describe a group of Joubert syndrome patients clinically and genetically emphasizing organ involvement. METHODS: We retrospectively collected clinical information and molecular diagnosis data of 22 patients with Joubert syndrome from multiple facilities. Clinical exome or whole-exome sequencing were performed to identify causal variations in genes. RESULTS: The most common variants were in the CPLANE1, CEP290, and TMEM67 genes, and other causative genes were AHI1, ARMC9, CEP41, CSPP1, HYLS1, KATNIP, KIAA0586, KIF7, RPGRIP1L, including some previously unreported variants in these genes. Multi-systemic organ involvement was observed in nine (40%) patients, with the eye being the most common, including Leber's congenital amaurosis, ptosis, and optic nerve coloboma. Portal hypertension and esophageal varices as liver and polycystic kidney disease and nephronophthisis as kidney involvement was encountered in our patients. The HYLS1 gene, which commonly causes hydrolethalus syndrome 1, was also associated with Joubert syndrome in one of our patients. A mild phenotype with hypophyseal hormone deficiencies without the classical molar tooth sign was observed with compound heterozygous and likely pathogenic variants not reported before in the KATNIP gene. CONCLUSION: Some rare variants that display prominent genetic heterogeneity with variable severity are first reported in our patients. In our study of 22 Joubert syndrome patients, CPLANE1 is the most affected gene, and Joubert syndrome as a ciliopathy is possible without a classical molar tooth sign, like in the KATNIP gene-affected patients.

Compatibility levels between blood gas analysis and central laboratory hemoglobin and electrolyte tests in pediatric patients: A single-center experience.

INTRODUCTION: We aimed to evaluate the interchangeability of sodium, potassium, hemoglobin, and hematocrit measurement between the blood gas analyzers and laboratory automatic analyzers results. METHODS: This was a retrospective cross-sectional study. The results of 1927 paired samples analyzed simultaneously with the blood gas analyzer and the laboratory automatic analyzer were compared. The Bland-Altman and Cohen's kappa statistic detected the agreement between the two analyses. RESULTS: The limits of agreement (±1.96 standard deviation of the mean difference) were -11.1 to 20.3 for sodium, -1.9 to 0.5 for potassium, -16.1 to 12.9 for hematocrit, and -5.0 to 4.0 for hemoglobin. Agreement between the two analyses was not acceptable within the defined clinically acceptable limits. In addition, none of the kappa values were higher than 0.60, which highlights the lack of agreement between the two analyzers. CONCLUSION: The blood gas analyzers and laboratory automatic analyzers results cannot be used interchangeably.

First case with RANBP2 biallelic mutation and severe acute necrotizing encephalopathy phenotype.

Familial acute necrotizing encephalopathy (ANE) is a rapidly progressive encephalopathy that can occur after common viral infections at different stages of life. The clinical findings of 2 siblings diagnosed with ANE were shared and the whole-exome-sequencing study of the index case was performed. It was confirmed by the Sanger method. We found the RANBP2 gene p.I656V variant homozygous in the index case. We found the variant in the parents as heterozygous. We argue that biallelic mutations in the RANBP2 gene may result in ANE with early onset and severe prognosis by increasing penetrance.

The association of vitamin D deficiency with hemogram-derived inflammatory biomarkers in children.

BACKGROUND AND AIMS: One of the extraosseous effects of vitamin D is that it is a potent modulator of inflammatory processes. Many studies have demonstrated the inverse association between vitamin D and inflammation. Therefore, we hypothesize that vitamin D deficiency may affect the inflammatory markers derived from hemogram parameters [neutrophil to lymphocyte ratio (NLR), platelet to lymphocyte ratio (PLR), lymphocyte to monocyte ratio (LMR), platelet distribution width (PDW), red blood cell distribution width (RDW)] in healthy children. METHODS AND RESULTS: We conducted a retrospective study on healthy children. From 2015 to 2020, 16,321 children with simultaneous vitamin D and hemogram measurements were identified from electronic records. Participants were divided into 2 groups according to whether they had vitamin D deficiency or not. The relationship between vitamin D status and the levels of inflammatory markers was analyzed. All inflammatory markers showed statistically significant differences between vitamin D status (p < 0.001 for all). Vitamin D levels were significantly negatively correlated with NLR (r = -0.285), PLR (r = -0.257), PDW (r = -0.181), and positively correlated with LMR (r = 0.218), and RDW (r = 0.057). In logistic regression analysis, age (OR = 1.15, 95% CI: 1.14-1.16), gender (OR = 1.66, 95% CI: 1.54-1.78), LMR (OR = 0.96, 95% CI: 0.95-0.98), PLR (OR = 1.003, 95% CI: 1.001-1.004), and RDW (OR = 1.10, 95%CI: 1.07-1.13) were found to be independent predictors for vitamin D deficiency. CONCLUSIONS: Statistically significant differences were detected between vitamin D status and inflammatory parameters. However, the difference between the median values of vitamin D groups was very small and the degree of correlation was very weak. Therefore, the clinical significance of the difference should be questioned.

Clinical, Genetic, and Outcome Characteristics of Pediatric Patients with Primary Hemophagocytic Lymphohistiocytosis.

OBJECTIVE: In this study, we sought to describe the clinical, laboratory, and genetic character- istics of patients diagnosed with primary hemophagocytic lymphohistiocytosis. Thus, we aimed to evaluate the early diagnosis and appropriate treatment options for pediatric hemophago- cytic lymphohistiocytosis patients. MATERIALS AND METHODS: Medical records of 9 patients diagnosed with primary hemophago- cytic lymphohistiocytosis between November 2013 and December 2019 were analyzed retro- spectively. Clinical, genetic, and laboratory characteristics, family histories, initial complaints, physical examination findings, age at diagnosis, treatment choices, and clinical follow-up of all patients were investigated. RESULTS: The mean age at diagnosis was 11 months (range: 1.5 months to 17 years). Genetic analysis was performed in all patients, and a disease-related mutation was detected in 8 (89%) of them. Among clinical features, 6 (66%) patients had fever, 5 (56%) had splenomegaly, 4 (44%) had lymphadenopathy, 4 (44%) had skin rash, and 4 (44%) had neurological findings. Hemophagocytosis was observed in the bone marrow samples of 6 (66%) patients. Disease remission was achieved in 7 (78%) patients. Hematopoietic stem cell transplantation was per- formed in 7 (78%) patients. CONCLUSION: Hemophagocytic lymphohistiocytosis may present with different clinical symptoms that can cause a significant diagnostic delay. The only curative treatment option in primary hemophagocytic lymphohistiocytosis patients is hematopoietic stem cell transplantation. The chemotherapy should be started as early as possible, in order to achieve a disease remission. Patients should be referred to the appropriate bone marrow transplant center for hematopoi- etic stem cell transplantation as soon as they reach the disease remission.

Brain Magnetic Resonance Imaging Findings of Pediatric Hemophagocytic Lymphohistiocytosis Could Be Diagnostic and Life-Saving.

BACKGROUND: Hemophagocytic lymphohistiocytosis (HLH) is a rare and fatal disease and may also present with central nervous system findings at the beginning without specific diagnostic criteria. Brain magnetic resonance imaging (MRI) findings are diverse and can also be diagnostic. We aimed to emphasize the importance of brain MRI findings in the early diagnosis of this fatal disease. METHODS: MRI findings, clinical presentations, treatment response, and prognosis of seven patients with HLH were described. RESULTS: There were seven pediatric patients who were initially diagnosed with HLH with neurological findings without systemic signs of HLH: four as primary, two as secondary, and one as possible primary HLH. All patients had contrast-enhancing diffuse cerebellar and brainstem lesions; patchy periventricular and callosal cerebral lesions were observed. Thalamus involvement was found in three (42.8%), corpus callosum involvement in six (85.7%), and cervical spinal involvement in one (14.2%). Patients were followed up with these MRI findings, with prediagnoses of toxic, metabolic, infectious, vascular, and demyelinating diseases. Not all patients met the HLH diagnostic criteria due to incomplete systemic/laboratory findings; therefore, only two were immediately directed for hematopoietic stem cell therapy. Four died shortly after admission, one patient could not be followed up after HLH treatment, and two patients who fulfilled the HLH diagnostic criteria underwent hematopoietic stem cell transplantation and survived. CONCLUSIONS: Brain MRI findings, especially in the presence of neurological findings, allow for early diagnosis, which can be life-saving. These common features in brain MRI findings should be evaluated with this suspicion and included in HLH diagnostic criteria.

The effectiveness and tolerability of clobazam in the pediatric population: Adjunctive therapy and monotherapy in a large-cohort multicenter study.

OBJECTIVE: To evaluate the effectiveness and tolerability of clobazam therapy in the pediatric population in terms of seizure semiology, epileptic syndromes, and etiological subgroups. METHODS: A retrospective cohort study was conducted consisting of 1710 epileptic children from eight centers in seven geographic regions of Turkey. The initial efficacy of clobazam therapy was evaluated after three months of treatment. The long-term effectiveness of the drug, overall seizure outcomes, and overall therapeutic outcomes were evaluated during 12 months of therapy. RESULTS: Analysis of initial efficacy after the first three months of clobazam therapy showed that 320 (18.7 %) patients were seizure-free, 683 (39.9 %) had > 50 % seizure reductions, and 297 (17.4 %) had < 50 % seizure reductions. A positive response (seizure-free and >50 % seizure reduction) was determined for focal-onset (62.3 %) seizures, epileptic spasms (61.5 %), and generalized onset seisures (57.4). The highest positive response rate among the epileptic syndromes was for self-limited epilepsy with centrotemporal spikes (SeLECTS). The highest negative response rate was for developmental and/or epileptic encephalopathies (DEEs). Magnetic resonance imaging (MRI) revealed a structural etiological diagnosis in 25.8 % of the cohort. A higher positive response rate was observed at MRI in patients with sequelae lesions than in those with congenital lesions. The seizure recurrence rate was higher in the patient group with epilepsy with genetic and metabolic causes, in individuals with more than one seizure type, and in those using three or more antiseizure drugs. CONCLUSIONS: This cohort study provides additional evidence that clobazam is an effective and well-tolerable drug with a high seizure-free rate (18.7 %), a significant seizure reduction rate (57.3 %), and with excellent overall therapeutic outcomes with a low seizure relapse rate and considerable reversible benefits in the pediatric population.

Epileptic encephalopathy with electrical status epilepticus during slow sleep: evaluation of treatment response from a tertiary center.

BACKGROUND: This study aimed to evaluate the clinical, electrophysiological, etiological features, and treatment response in children with epileptic encephalopathy with electrical status epilepticus during slow sleep (ESES). METHODS: Clinical data, records of electroencephalograms (EEG), and brain magnetic resonance imaging (MRI) findings of 33 patients with ESES who were treated, and followed up for at least one year were retrospectively analyzed. RESULTS: Of all patients, 57.6% were male, and 42.4% were female. The mean age was 10.45 ± 2.88 years. At first admission, 90% of patients had seizures, and 10% had only school failure. Twelve patients had childhood focal epileptic syndrome. In etiology, asphyxia (n=6), hydrocephalus (n=2), polymicrogyria (n=1), and mesial temporal sclerosis (n=1) were determined. Neurological examination was abnormal in 27.2%, and brain MRI findings were pathological in 36.3% of the patients. During the ESES phase, the spike-wave index (SWI) on the non-rapid eye movement (NREM) sleep EEG was > 85% in 16 patients and 50-85% in 17 patients. Only one patient received one, and the others had at least two antiseizure medications. Benzodiazepines were found to be the most effective treatment. In the two-year follow-up, 24 patients (72.7%) were seizure-free, and nineteen patients (57.5%) had complete recovery of SWI on their NREM sleep EEG. There was a significant correlation with reduction of the SWI on the EEG and seizure control (p < 0.001). In addition, a significant correlation was found between neurocognitive and behavioral scores scored before and after treatment, seizure control, and EEG recovery. CONCLUSIONS: ESES is an epileptic encephalopathy that can be treated safely with antiseizure medications. Neurocognitive examinations and follow-up of EEG findings are valuable in terms of the treatment response. Benzodiazepines were found to be very effective in additional treatment.

Evaluation of suicide probability in children and adolescents with epilepsy.

BACKGROUND: We aimed to examine suicide probability, factors affecting suicide, and personality traits of children and adolescents diagnosed with epilepsy, and to compare their results with those of children without epilepsy. METHODS: Fifty-six children diagnosed with epilepsy and 56 control children, aged 11-16 years, were evaluated by using the Diagnostic and Statistical Manual of Mental Disorders diagnostic criteria, the Kiddie Schedule for Affective Disorders and Schizophrenia Present and Lifetime Version, the Child Depression Inventory, the Suicide Probability Scale (SPS), and the Personality Inventory for DSM-5 - Brief Form - Children (PID-5-BF) scales. Factors predicting suicide risk in children with epilepsy were analyzed. RESULTS: The mean age, SPS total score, and hopelessness subscale score, PID-5-BF total score as well as disinhibition and psychoticism subscale scores of the epilepsy group were significantly higher than those of the control group (P < 0.05). There was no significant difference between the groups in terms of the Child Depression Inventory, and other subscales of the Suicide Probability Scales and PID-5-BF scales. The SPS total score was higher in patients with comorbid psychiatric diseases, those using psychiatric drugs, and girls (P < 0.05). An ANCOVA analysis indicated that the most important factor that predicted the probability of suicide and its subscale scores was the level of depression, and the presence of epilepsy was not predictive. CONCLUSIONS: We found a high probability of suicide and personality pathology in children with epilepsy but the main predictor of suicide probability was the level of depression, not the presence of epilepsy.

Trends in the choice of antiseizure medications in juvenile myoclonic epilepsy: A retrospective multi-center study from Turkey between 2010 and 2020.

PURPOSE: Valproic acid (VPA) is frequently used and effective in juvenile myoclonic epilepsy (JME). Recently, levetiracetam (LEV) has been suggested as a monotherapy in JME. This study aimed to evaluate antiseizure medication (ASM) use in patients with JME. METHODS: Treatment choices in a total of 257 patients (age range 8-18 years, 152 girls, 105 boys) with JME diagnosed and treated between 2010 and 2020 were evaluated retrospectively. Seizure remission was defined as complete seizure control for at least 12 months. RESULTS: Across the study period and entire patient group, VPA was most commonly chosen as the initial ASM (50.9%), followed by LEV (44.4%), and lamotrigine (4.7%). VPA was also the most frequent first choice in the subgroup of boys (73.3%), while LEV was the commonest first choice in girls (57.9%). The sex difference regarding the ASM of the first choice was statistically significant (p<0.001). While VPA was the most frequent initial ASM in the first 5 years of the study period (2010-2015,n = 66, 64%), LEV had taken over as the most popular first ASM in the last 5 years (n = 83, 53.9%, p = 0.005). The most frequent reasons for discontinuation were inefficacy for LEV and adverse effects for VPA (p = 0.001). During follow-up, 237 patients (92.2%) were seizure-free for at least 12 months, and 159 (61.9%) were also in electrographic remission. Seizure remission occurred earlier than electroencephalographic remission (p<0.001). CONCLUSION: This study revealed that LEV has become the most frequently chosen initial ASM in the treatment of JME. Although LEV appears to have a better adverse effect profile, VPA seems more likely to be effective in achieving seizure control.

Evaluation of immunization status in patients with cerebral palsy: a multicenter CP-VACC study.

Children with chronic neurological diseases, including cerebral palsy (CP), are especially susceptible to vaccine-preventable infections and face an increased risk of severe respiratory infections and decompensation of their disease. This study aims to examine age-appropriate immunization status and related factors in the CP population of our country. This cross-sectional prospective multicentered survey study included 18 pediatric neurology clinics around Turkey, wherein outpatient children with CP were included in the study. Data on patient and CP characteristics, concomitant disorders, vaccination status included in the National Immunization Program (NIP), administration, and influenza vaccine recommendation were collected at a single visit. A total of 1194 patients were enrolled. Regarding immunization records, the most frequently administrated and schedule completed vaccines were BCG (90.8%), hepatitis B (88.9%), and oral poliovirus vaccine (88.5%). MMR was administered to 77.3%, and DTaP-IPV-HiB was administered to 60.5% of patients. For the pneumococcal vaccines, 54.1% of children received PCV in the scope of the NIP, and 15.2% of children were not fully vaccinated for their age. The influenza vaccine was administered only to 3.4% of the patients at any time and was never recommended to 1122 parents (93.9%). In the patients with severe (grades 4 and 5) motor dysfunction, the frequency of incomplete/none vaccination of hepatitis B, BCG, DTaP-IPV-HiB, OPV, and MMR was statistically more common than mild to moderate (grades 1-3) motor dysfunction (p = 0.003, p < 0.001, p < 0.001, p < 0.00, and p < 0.001, respectively). Physicians' influenza vaccine recommendation was higher in the severe motor dysfunction group, and the difference was statistically significant (p = 0.029).Conclusion: Children with CP had lower immunization rates and incomplete immunization programs. Clinicians must ensure children with CP receive the same preventative health measures as healthy children, including vaccines. What is Known: • Health authorities have defined chronic neurological diseases as high-risk conditions for influenza and pneumococcal infections, and they recommend vaccines against these infections. • Children with CP have a high risk of incomplete and delayed immunization, a significant concern given to their increased healthcare needs and vulnerability to infectious diseases. What is New: • Influenza vaccination was recommended for patients hospitalized due to pneumonia at a higher rate, and patients were administered influenza vaccine more commonly. • Children with CP who had higher levels of motor dysfunction (levels 4 and 5) were more likely to be overdue immunizations.

Sublingual methylcobalamin treatment is as effective as intramuscular and peroral cyanocobalamin in children age 0-3 years.

PURPOSE: Vitamin B12 deficiency is a cause of preventable growth and developmental retardation in children. In this respect, alternative methods such as oral and sublingual treatments are being tried. We aimed to compare the efficacy of oral, sublingual, and intramuscular vitamin B12 treatments in children aged 0-3 years. METHODS: The study included 158 patients with serum vitamin B12 deficiency (serum vitamin B12 level <300 ng/L) aged 0-3 years retrospectively. According to the vitamin B12 treatment modalities, the patients were divided into three groups as oral cyanocobalamin (group 1), sublingual methylcobalamin (group 2), and intramuscular cyanocobalamin (group 3). RESULTS: The mean values of vitamin B12 levels increased to above 300 ng/L in all three groups. This increase was statistically significant for Group 1,2 and 3 (p<0.05). CONCLUSION: Sublingual methylcobalamin was determined as effective as oral and intramuscular cyanocobalamin improving vitamin B12 levels aged 0-3 years.What's already known about this topic?It is already known that intramuscular and oral cyanocobalamin treatments are effective in vitamin B12 deficiency of children.What does this article add?Sublingual methylcobalamin treatment, which is a new treatment method, was found to be as effective as oral and intramuscular cyanocobalamin treatments. To our knowledge, there is no study about sublingual treatment in children and comparing oral cyanocobalamin, intramuscular cyanocobalamin, sublingual methylcobalamin.

High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population.

Neurodevelopmental disorders (NDDs) are clinically and genetically heterogenous; many such disorders are secondary to perturbation in brain development and/or function. The prevalence of NDDs is > 3%, resulting in significant sociocultural and economic challenges to society. With recent advances in family-based genomics, rare-variant analyses, and further exploration of the Clan Genomics hypothesis, there has been a logarithmic explosion in neurogenetic "disease-associated genes" molecular etiology and biology of NDDs; however, the majority of NDDs remain molecularly undiagnosed. We applied genome-wide screening technologies, including exome sequencing (ES) and whole-genome sequencing (WGS), to identify the molecular etiology of 234 newly enrolled subjects and 20 previously unsolved Turkish NDD families. In 176 of the 234 studied families (75.2%), a plausible and genetically parsimonious molecular etiology was identified. Out of 176 solved families, deleterious variants were identified in 218 distinct genes, further documenting the enormous genetic heterogeneity and diverse perturbations in human biology underlying NDDs. We propose 86 candidate disease-trait-associated genes for an NDD phenotype. Importantly, on the basis of objective and internally established variant prioritization criteria, we identified 51 families (51/176 = 28.9%) with multilocus pathogenic variation (MPV), mostly driven by runs of homozygosity (ROHs) - reflecting genomic segments/haplotypes that are identical-by-descent. Furthermore, with the use of additional bioinformatic tools and expansion of ES to additional family members, we established a molecular diagnosis in 5 out of 20 families (25%) who remained undiagnosed in our previously studied NDD cohort emanating from Turkey.