Clinical, neuroimaging and genetic findings in children with hereditary ataxia: single center study.

BACKGROUND: The genetics of hereditary ataxia (HA) are complex and multigenic. The diversity of genes that cause ataxia varies considerably between populations. We aimed to investigate the clinical, neuroimaging, and genetic findings of HA in children from a tertiary center in Turkey. METHODS: The clinical and neuroimaging evaluations of patients, laboratory investigations, and molecular genetic evaluations of those with ataxia were performed at the pediatrics, pediatric neurology, and genetics outpatient clinics between October 2020 and October 2021. With repeated expansions in the ATXN 1, 2, 3, 7, and 8 genes for spinocerebellar ataxia (SCA) and FXN genes for Friedreich's ataxia (FA), whole-exome sequencing (WES) was used to analyze every patient. RESULTS: 25 patients from 24 families had ataxia and an unsteady gait as their main symptoms. The patients had a mean age of 8.5 ± 3.78 years, and the symptoms had begun at a mean age of 2 ± 0.62 years; five of these were males and three were females. A genetic cause of ataxia was found in 8/25 patients (32%). Seven of the eight gene mutations detected in the patients were novel mutations. Spinocerebellar ataxia was found in 16% of cases (n = 4), L-2-Hydroxyglutaric aciduria was found in 12% of cases (n = 3), and ataxia-telangiectasia was found in 4% of cases (n = 1). CONCLUSION: Our research adds to the body of knowledge by describing the clinical and genetic traits of HA patients in our area and by finding unusual gene changes linked to ataxia.

A snapshot of pediatric inpatients and outpatients with COVID-19: a point prevalence study from Turkey.

This multi-center point prevalence study evaluated children who were diagnosed as having coronavirus disease 2019 (COVID-19). On February 2nd, 2022, inpatients and outpatients infected with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) were included in the study from 12 cities and 24 centers in Turkey. Of 8605 patients on February 2nd, 2022, in participating centers, 706 (8.2%) had COVID-19. The median age of the 706 patients was 92.50 months, 53.4% were female, and 76.7% were inpatients. The three most common symptoms of the patients with COVID-19 were fever (56.6%), cough (41.3%), and fatigue (27.5%). The three most common underlying chronic diseases (UCDs) were asthma (3.4%), neurologic disorders (3.3%), and obesity (2.6%). The SARS-CoV-2-related pneumoniae rate was 10.7%. The COVID-19 vaccination rate was 12.5% in all patients. Among patients aged over 12 years with access to the vaccine given by the Republic of Turkey Ministry of Health, the vaccination rate was 38.7%. Patients with UCDs presented with dyspnea and pneumoniae more frequently than those without UCDs (p < 0.001 for both). The rates of fever, diarrhea, and pneumoniae were higher in patients without COVID-19 vaccinations (p = 0.001, p = 0.012, and p = 0.027).  Conclusion: To lessen the effects of the disease, all eligible children should receive the COVID-19 vaccine. The illness may specifically endanger children with UCDs. What is Known: • Children with COVID-19 mainly present with fever and cough, as in adults. • COVID-19 may specifically threaten children with underlying chronic diseases. What is New: • Children with obesity have a higher vaccination rate against COVID-19 than children without obesity. • Among unvaccinated children, fever and pneumoniae might be seen at a higher ratio than among vaccinated children.

The effect of the swaddling method on stress levels in newborns administered nasal CPAP.

BACKGROUND: This study aims to investigate the effects of the swaddling method on the stress levels in newborns receiving nasal continuous positive airway pressure (nCPAP). METHODS: The study was conducted between 1 June 2022 and 1 October 2022 with 40 newborns who underwent nCPAP in the second-level Neonatal Intensive Care Unit (NICU) of a city hospital in the Central Anatolia Region of Turkey. Data were collected using a descriptive form, including the characteristics of newborns, a patient follow-up chart, and the Newborn Stress Scale (NSS). The descriptive form, the patient follow-up chart, and the NSS were completed by the researcher 30 min after the nCPAP was started and the first saliva sample was taken. The patient follow-up chart and NSS were completed 30 min after applying the swaddling method and the second saliva sample was collected. The data were analyzed using IBM SPSS Statistics 25.0 package software and presented with number, percentage, mean, standard deviation, min-max, and t-test. RESULTS: The study found that the mean score of the NSS after the intervention (3.52 ± 2.57) was lower than that before the intervention (10.02 ± 2.05) (p < 0.05). The mean saliva cortisol levels of the newborns after the intervention (4.99 ± 1.89) were lower than before the intervention (5.51 ± 1.65) (p < 0.05). The mean heart (135.50 ± 14.15) and respiratory rates (68.07 ± 10.16) of the newborns after the intervention were lower than those before the intervention (140.82 ± 18.11; 72.95 ± 9.06, respectively) (p < 0.05). There was no difference between the mean oxygen saturation of newborns before and after the intervention (p > 0.05). CONCLUSIONS: The study showed that the swaddling method played a role in reducing the stress levels in newborns who underwent nCPAP. It is recommended that randomized controlled trials examining the effect of swaddling on the stress levels of newborns who underwent nCPAP be conducted.

Evaluation of Molecular and Clinical Findings in Children With Neurofibromatosis Type 1: Identification of 15 Novel Variants.

BACKGROUND: Neurofibromatosis type 1 (NF1) is the most common neurocutaneous disease and is caused by mutations in the NF1 gene. The most common clinical features of NF1 are pigmentary abnormalities such as café-au-lait spots and inguinal or axillary freckling, cutaneous and plexiform neurofibromas, hamartomas of the iris, optic gliomas, and bone lesions. The aim of this retrospective study was to define the clinical and molecular characteristics of a pediatric sample of NF1, as well as the mutational spectrum and genotype-phenotype correlation. METHODS: The study included 40 children with clinically suspected NF1. The patients were screened for NF1 mutations by DNA-based sequencing. In addition, all the patients were studied by multiplex ligation-dependent probe amplification (MLPA) to identify any duplications or deletions in NF1. The demographic, clinical, and genetic features of the children were characterized. RESULTS: A total of 40 children with NF1 were included. Of those, 28 were female and 12 were male. The mean age was 8.91 years. An NF1 variant was discovered in 28 of 40 patients (70%). Among these mutations, intronic mutations were the most frequently detected mutations; 15 of these variants had not been previously reported. Only one patient had a whole NF1 gene deletion. CONCLUSIONS: This study expands the spectrum of mutations in the NF1 gene. This study also showed that genetic screening using both next-generation sequencing and MLPA had a positive effect on diagnosis and genetic counseling in patients with suspected NF1.

The factors affecting neurodevelopmental outcomes in HIE.

BACKGROUND: Hypoxic ischemic encephalopathy (HIE) has different neurological outcomes. AIM: We wanted to see if there was any developmental delay in neonates with hypoxia ischemic encephalopathy who were given therapeutic hypothermia. STUDY DESIGN: Retrospective cohort study. METHODS: The Denver developmental screening test II (DDST-II) was performed to newborns who had been applied to therapeutic hypothermia. RESULTS: There were 69 male and 36 female newborns. The mean 1-min and 5-min Apgar scores were 4.72 ± 2.51 and 7.03 ± 2.017, respectively. The mean pH and mean base excess were 6.92 ± 0.1 and -18.05 ± 5.72, respectively. The most common risk factors were meconium staining (17.1%). There were 67 patients with Stage I, 20 with Stage II, and 18 with Stage III. Diffusion restriction was seen in 13 patients. 28 patients had seizures. In aEEG, 12 patients had burst suppression. Three (2.9%) infants died during hospitalization. 19 patients missed follow-up appointments. Thirteen patients had abnormal development according to DDST-II. Seven patients had gross motor function delays and were diagnosed with cerebral palsy. Three had language skill delays, but two of them had speech disorders after two years of age. Two had delayed milestones. Two had delays in fine motor skills but did not have any sequels after two years of age. A significant difference was found between seizures and the severity of Sarnat stage, intubation in the delivery room with developmental delay. Apgar scores were significantly lower in patients with CP. CONCLUSION: We should closely follow-up neonates who had low Apgar scores, seizures, a high Sarnat stage, were intubated in the delivery room.

Diagnosis and genetic analysis of polycythemia in children and a novel EPAS1 gene mutation.

BACKGROUND: Unlike in adults, there is no consensus on management and diagnosis of polycythemia in children. This study aims to evaluate the diagnosis and verify the algorithm in children with polycythemia. METHODS: Seventy-nine children with polycythemia were followed-up in our pediatric hematology-oncology clinic between December 15, 2019, and July 15, 2021. After eliminating secondary causes (hypoxia, pulmonary, cardiac diseases), we checked for genetic mutations, including congenital erythrocytosis gene panel (JAK, EPOR, EPAS1, EGNL1, HBB, HBA, BPGM, and VHL). We also compared parameters for secondary and idiopathic polycythemia groups. RESULTS: Of the 79 children, thirty-five had secondary polycythemia (hypoxia, pulmonary, cardiac diseases), and one was diagnosed with a novel likely pathogenic mutation c.2089C  >  G; p.Pro697Ala in exon 13 of EPAS1 gene. Others (n = 35) had persistent and idiopathic polycythemia. Here, we compared the idiopathic and secondary cases. We found that the ratio of family history of polycythemia (n = 4 (9.5%) vs 0%, respectively) was higher in the second group (p = 0.009). In addition, the mean age (14.7 ± 3.52 vs 13.4 ± 4.67 respectively) (p = 0.042) and the ratio of erythroid hyperplasia in bone marrow [n = 3 (8.6%) vs 0% respectively] (p = 0.003) was higher in the idiopathic polycythemia group, compared to secondary polycythemia patients. CONCLUSION: Finding the genetic defect in polycythemia is a significant issue. Due to being a rarity in children, the first line JAK mutation analysis should be performed in selected cases. This study is the first description of a Turkish patient with EPAS1 p.Pro697Ala mutation, thereby expanding our knowledge about the clinical features of the disease. However, new investigations are required to confirm its function.