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.

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.

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.

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.

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.].

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.

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.

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.

Effects of sulthiame on seizure frequency and EEG in children with electrical status epilepticus during slow sleep.

OBJECTIVE: It is argued that early and adequate treatment of electrical status epilepticus in sleep (ESES) is essential to preserve cognitive functions and possibly recovering lost skills. Although antiepileptic drugs (AEDs) are effective in ESES, there is not much experience in the use of sulthiame. In this study, we aimed to examine the efficiency and tolerability of sulthiame in ESES. METHODS: The data of 39 patients diagnosed as ESES and who received sulthiame as an additional treatment between 2016 and 2020 were reviewed retrospectively. Electroencephalographic (EEG) findings and seizure rates were compared before and after the sulthiame treatment. RESULTS: The mean age was 8.5 ±â€¯4.1 (1.5-16 years). Nine out of 39 patients had benign childhood focal epilepsies. Structural causes were identified in 13 patients. The mean duration of sulthiame use was 32.5 ±â€¯13.7 months. After sulthiame treatment, 25 patients (64.1%) were seizure free, and 8 (20.5%) had more than a 50% decrease in seizure frequency. The mean seizure-free time after the sulthiame treatment was 27.8 ±â€¯17.9 months. Nineteen patients (48.7%) had complete, and nine patients (23.1%) had partial EEG improvement. Complete seizure control was significantly higher in benign focal epilepsy of childhood (p = 0.01). Significant neurocognitive and behavioral recovery, improvement in school performance was observed following sulthiame treatment (p < 0.001). CONCLUSION: Sulthiame was found to be effective in seizure control and EEG improvement in ESES. We think that the use of sulthiame alone can be a good choice with high efficacy and tolerability in ESES.

Impact of next-generation sequencing panels in the evaluation of limb-girdle muscular dystrophies.

INTRODUCTION: Limb-girdle muscular dystrophy (LGMD) is the fourth most common muscular dystrophy, with progressive proximal muscle weakness. However, a large number of neuromuscular conditions are similarly presented. Because of this, the use of high-throughput methods such as next-generation sequencing (NGS) is important in the evaluation of LGMD. METHODS: In this report, we applied a custom target capture-based NGS panel covering 31 LGMD-associated genes (MYOT, LMNA, CAV3, DES, DNAJB6, FLNC, CAPN3, DYSF, SGCG, SGCA, SGCB, SGCD, TCAP, TRIM32, FRKP, TTN, POMT1, ANO5, FKTN, POMT2, POMGnT1, DAG1, PLEC, GAA, GMPPB, HNRNPDL, TNPO3, LIMS2, POMK, TRAPPC11, ISPD) in 74 patients suspected of LGMD. RESULTS: In 25 (33.8%) out of 74 patients analyzed, one or more pathogenic/likely pathogenic variants in 13 different genes were detected. Six of the patients had the variants that were not found in databases and literature; thus, they were interpreted as novel pathogenic variants. DISCUSSION: The diagnosis rate achieved (33.8%) is consistent with previous literature reports and underlines the efficiency and importance of NGS technology in the molecular genetic evaluation of LGMD.

Is Bilateral Facial Paralysis an Indicator of Respiratory Outcome in Guillain-Barré Syndrome?

Background and objectives: Bilateral facial paralysis is a rare and specific clinical manifestation of various neurological disorders. Bilateral facial paralysis has been reported as an essential feature of Guillain-Barré syndrome (GBS) for many years. We aim to describe the incidence of bilateral facial paralysis and prognosis in our GBS patients. Materials and Methods: A retrospective chart review of all patients with GBS and bilateral facial paralysis who were treated at the Inönü University Medical Faculty was performed. Results: A total of 45 cases of GBS were reviewed. Four out of 45 patients (8.8%) had associated bilateral facial paralysis. Only one of the patients also had acute multiple cranial neuropathies. All patients experienced sudden deterioration and respiratory distress. In one of our patients who had multiple cranial neuropathies, serum antiganglioside antibody assay was performed, and anti-GQ1b IgG antibody positivity was observed. The cerebrospinal fluid had albuminocytological dissociation in all patients, and axonal involvement was present in nerve conduction studies (NCS). Three patients improved with immunotherapy; one patient died due to cardiac arrest after resistant hypotension. Conclusion: Bilateral facial paralysis is a rare condition in children. We wanted to emphasize bilateral facial involvement and poor prognosis in our GBS patients.

Evaluation of Vitamin D Levels and Response to Therapy of Childhood Migraine.

BACKGROUND AND OBJECTIVES: Vitamin D deficiency and insufficiency are related with many neurological diseases such as migraine. The aim of this study was to investigate whether pediatric migraine is associated with vitamin D deficiency and the effect of vitamin D therapy on the frequency, duration, severity of migraine attacks, and Pediatric Migraine Disability Assessment (PedMIDAS). MATERIALS AND METHODS: We retrospectively examined the patients' levels of calcium, phosphorus, parathyroid hormone, alkaline phosphatase, and 25-OH vitamin D of 92 pediatric migraine patients. The patients were divided into two groups: Group 1, which had low vitamin D levels and received vitamin D therapy, and group 2, which had normal vitamin D levels and did not receive vitamin D therapy. Migraine severity measured by the visual analog scale (VAS), migraine frequency, and duration as well as scores on the PedMIDAS questionnaire were compared with regard to the 25-OH vitamin D levels. In addition, pre- and posttreatment pedMIDAS scores, VAS, migraine frequency, and duration were compared with baseline values. RESULTS: A total of 34.7% patients had vitamin D insufficiency (vitamin D levels between 10 and 20 ng/mL), whereas 10.8% had vitamin D deficiency (vitamin D levels < 10 ng/mL). Migraine frequency, migraine duration, and PedMIDAS scores were significantly higher in the group 1 than group 2 (p = 0.004, p = 0.008, and p = 0.001). After vitamin D therapy at sixth months of supplementation, migraine duration was reported statistically significant shorter (p < 0.001) and the migraine frequency, VAS scores, and pedMIDAS scores were statistically significant lower compared with baseline values in group 1 (p < 0.001). CONCLUSION: We found a marked correlation between pediatric migraine and vitamin D levels. Vitamin D therapy was beneficial in migraine pediatric patients.

Early and late neurological complications of liver transplantation in pediatric patients.

NCs occur commonly after solid organ transplantation and affect 15%-30% of liver transplant recipients. The aim of this retrospective study was to evaluate the type and incidence of neurologic events in pediatric patients following LT. Between May 2006 and June 2015, 242 patients (118 females, 124 males) requiring LT for different etiologies at the Inönü University Liver Transplantation Institute were included. The incidence, types, and risk factors of NCs that occurred following LT were evaluated retrospectively. Neurologic events occurred in 57 (23.5%) of the patients. Early NCs were encephalopathy (12.4%), seizures (11.5%), and PRES (7%). Of 57 patients, five (8.7%) experienced NCs at least 1 month after LT; these late NCs included tremor, headaches, encephalopathy, ataxia, and neuropathy. The psychiatric symptoms after LT were noted in 42 patients (17.4%). The mortality rate after LT in those with or without neurological events was not significantly different (P=.73). There was a high incidence of serious neurologic events after LT. The major neurologic manifestation in our patients was encephalopathy followed by seizures.

Hodgkin's lymphoma associated with paraneoplastic cerebellar degeneration in children: a case report and review of the literature.

Paraneoplastic cerebellar degeneration (PCD) can occur severely and appear as subacute cerebellar syndrome. PCD may be associated with small cell lung cancer, adenocarcinoma, breast cancer, ovarian carcinoma, and Hodgkin's lymphoma. An 11-year-old male was admitted with acute cerebellar ataxia, dysarthria, and diplopia. Mediastinal conglomerated lymph nodes were depicted in a chest computed tomography (CT) examination, and diagnosis of stage IV Hodgkin's lymphoma was obtained after a lymph node biopsy. The antibodies against Purkinje cells (anti-Tr antibody) were positive immunohistochemically. Thus, paraneoplastic cerebellar degeneration depending on Hodgkin's disease was diagnosed. Despite the completion of chemotherapy, neurological recovery was not observed in the patient and plasmapheresis with immunoadsorption, and intravenous immunoglobulin (IVIG) was performed. Truncal ataxia, gait disturbance, and tremors decreased. Consequently, we thought that plasmapheresis with the immunoadsorption method and IVIG therapy might be a treatment option for cerebellar ataxia caused by a mechanism of immune ancestry.

Bone mineral density in pediatric patients with meningomyelocele.

PURPOSE: The aim of this study was to determine the bone mineral density (BMD) and the factors leading to reduction in BMD in children diagnosed with meningomyelocele. METHODS: A total of 31 patients with meningomyelocele (mean (SD) age, 8.5 (3.9) years; 51.6%were females) and 22 healthy children were included. BMD of femoral neck and spinal L1­ L4 levels and markers for bone metabolism were recorded. RESULTS: BMD of femoral neck (p=0.001) and spinal L1­L4 (p = 0.01), serum calcium (p = 0.031), and urinary deoxypyridinoline (p=0.015) levels were significantly lower in patients than in controls. Mobilization was significantly reduced in lumbar (p=0.001) and thoracic (p=0.002) level meningomyelocele compared to controls, while a significant positive correlation was noted between BMD of spinal L1­L4 and mobility (r=0.58, p=0.015). CONCLUSIONS: Our findings suggest a decrease in BMD in meningomyelocele patients being associated with osteoporosis rather than nutritional and hormonal factors and the negative impact of higher levels of lesion on the mobility.

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.

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.

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.

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.

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.