An investigation of computer-game addiction, physical activity level, quality of life and sleep of children with a sibling with a chronic condition.

BACKGROUND: It is known that chronic condition also affects siblings without chronic illness. Healthy siblings of children with a chronic condition and aged 9-14 years and healthy children with a sibling without chronic illness and their parents were included in the study. AIM: The aim of our study was to examine the internet-game addiction, physical activity, quality of life and sleep in children with a sibling with chronic condition and compare them with their peers with a healthy sibling. METHODS: Computer game addiction, physical activity, sleep quality and quality of life were evaluated respectively by Computer Game Addiction Scale for Children, Child Physical Activity Questionnaire, Children's Sleep Disorder Scale and Children's Quality of Life Scale. RESULTS: While the mean age of 75 children with chronically ill siblings was 10.65 ± 1.59 years, the mean age of 75 healthy children with healthy siblings was 10.46 ± 2.09 years. It was observed that children with a sibling with a chronic condition were more tend to computer-game addiction, had lower sleep quality, lower quality of life in terms of school functionality and psychosocial health compared to children with a healthy sibling (p < 0.05). CONCLUSIONS: It was revealed that in families with children with a chronic condition, siblings with no health problems should also be evaluated in psychosocial terms and supported by appropriate approaches, such as to increase the level of physical activity.

Serum Zonulin Levels in Pediatric Migraine.

BACKGROUND: Migraine is a complex neurogenic inflammatory disorder. There are strong neuronal, endocrine, and immunologic connections between the brain and gastrointestinal system. Damage to the intestinal barrier is thought to cause systemic immune dysregulation. Zonulin is a protein produced by the small intestine epithelium in humans that regulates intestinal permeability through intracellular tight junctions and is a potential marker for inflammation. Zonulin increases in positive correlation with permeability. In our study, we aimed to research the correlation between serum zonulin levels in the period between attacks in pediatric patients with migraine. METHODS: The study included 30 patients with migraine and 24 healthy controls, matched in terms of sex and age. Demographic and clinical characteristics were recorded. Serum zonulin levels were studied with the enzyme-linked immunosorbent assay method. RESULTS: Patients had a mean of 5.6 ± 3.5 attacks per month. The mean serum zonulin was 5.68 ± 1.21 ng/mL in the migraine group and 5.72 ± 2.1 ng/mL in the control group with no significant difference found (P = 0.084). In the migraine group, no correlations were identified between serum zonulin levels and age, body mass index, pain frequency, pain duration, onset time, visual analog scale score, and presence of gastrointestinal systems apart from nausea-vomiting. CONCLUSIONS: More than 50 proteins were identified to affect the intestinal permeability apart from zonulin. There is a need for prospective studies encompassing the time of attack, but our study is important as it is the first study about zonulin levels in pediatric migraine.

Assessment of the Optic Disc and Retinal Microvasculature by Optical Coherence Tomography Angiography in Patients With Pediatric Migraine.

BACKGROUND: Migraine, as a chronic neurovascular disease, is known to be a risk factor for retinal and optic nerve head damage. Herein, we aimed to evaluate the optic disc and retinal microvasculature in pediatric migraine (PM) patients using optical coherence tomography angiography (OCTA). METHODS: Forty-six eyes of 23 patients with PM without aura (PM group) and 46 eyes of 23 age- and sex-matched healthy subjects (control group) were included in this cross-sectional prospective study. Demographic features and ophthalmological examination including OCTA measurements were evaluated. OCTA was performed with 6- × 6-mm sections for macula and 4.5- × 4.5-mm sections for optic nerve head in all eyes. Foveal retinal thickness (FRT), peripapillary retinal nerve fiber layer (RNFL) thickness, vessel density in different sections of the retina, and optic disc were analyzed and compared between the groups. All measurements of the PM patients were taken in the attack-free period. RESULTS: The mean ages of the PM group and control group were 11.17 ± 3.3 and 11.83 ± 2.8 years, respectively ( P = 0.479). Gender and mean intraocular pressures were similar between the groups. The mean central corneal thickness levels in the PM group were significantly lower than control group, 548.28 ± 26.3 µm and 562.04 ± 24.5 µm, respectively ( P = 0.011). There was no significant difference regarding average and all quadrant RNFL thicknesses, foveal avascular zone and flow areas, deep vessel densities, and optic disc capillary densities between the groups. However, compared with the control group, the PM group showed significant higher values of FRT, and lower values of superficial whole and parafoveal vessel densities (247.28 ± 15.8 µm vs 285.93 ± 11.1, P < 0.001, 51.85 ± 2.4% vs 50.31 ± 4.0%, P = 0.02, 55.09 ± 2.3% vs 53.5 ± 3.5%, P = 0.01, respectively). Disease duration and attacks/year did not show any significant correlations with OCTA values. CONCLUSIONS: PM seems to be associated with lower superficial whole and parafoveal vessel densities because of hypoperfusion and ischemia. OCTA may be suggested for use in follow-up and management of PM patients.

Combined immunoglobulin and plasmapheresis treatment for Febrile Infection-Related Epilepsy Syndrome (FIRES).

Febrile infection-related epilepsy syndrome (FIRES) is a rarely observed and destructive syndrome progressing with resistant seizures or refractory status epilepticus. In this report we present in a treatment procedure with plasmapheresis of a pediatric patient with FIRES and currently unknown etiology in order to contribute to the literature.

Neuroimaging Findings in Pediatric Patients with Thalassemia Major.

BACKGROUND: Cranial magnetic resonance imaging (MRI) studies about iron accumulation in children with thalassemia major are quite limited. AIM: This study aimed to detect neurological findings with cranial MRIs in the pediatric patients with thalassemia major who did not develop any neurological complications. MATERIALS AND METHODS: Pediatric patients with thalassemia major who followed in the Pediatric Hematology Unit between 1 July 2017 and 1 January 2019 were included in the study. The patients underwent cranial MRI scans. RESULTS: A total of 30 patients were included. The median age was 15 (range from 4-18) years old. We found that 7 patients had a splenectomy and 19 of the remaining 23 patients had splenomegaly. In addition, 13 of the patients had hepatomegaly, 10 had skeletal deformities, and 17 had growth retardation. The mean ferritin level was 3772.3 ± 2524.8. We detected various pathologies on cranial MRI images of 10 (33.3%) patients. In 3 of these patients, millimeter-sized ischemia-compatible lesions were found in the cerebral white matter, which did not fit any arterial area, and 5 patients had hyperintense lesions in the basal ganglia. CONCLUSION: Our study is valuable since 1/3 of our pediatric patients with thalassemia major were detected with intracranial pathology.

An evaluation of the knowledge, attitudes, and behaviors of parents regarding epilepsy.

BACKGROUND AND AIMS: Knowledge about epilepsy and attitudes toward people with epilepsy can influence measures taken to manage epilepsy and seizures. The support and understanding of parents of children with epilepsy are invaluable in helping develop ordinary living skills. To determine the educational needs of parents of children with epilepsy, their knowledge, attitudes, and behaviors should be evaluated. Therefore, we interviewed parents who had a child with epilepsy who was treated at the pediatric neurology clinic of a university hospital. We aimed to evaluate parents' knowledge, attitudes, and behaviors toward children with epilepsy to determine their educational needs. METHODS: This descriptive study included 221 parents of children with epilepsy who applied to Hatay Mustafa Kemal University Medical Faculty Hospital. A questionnaire was used to collect data. Pearson and exact chi-square tests were used for analysis. RESULTS: In the present study, 221 parents were interviewed. A total of 66.5% of the participants were at the primary education level. The rate of participants who preferred healthcare professionals as a source of information about epilepsy was 78.9%. Forty-eight percent of the parents did not see consanguineous marriage as a reason. While some parents stated that epilepsy was supernatural, others had no idea whether it was contagious or not, and 46.2% of the participants stated that epilepsy is not a hereditary disease. The rate of those who tried nonphysician treatment was 16.3%. The rate of participants who thought that drinking alcohol would not trigger seizures was 86.9%. It was determined that 30.8% of the participants pulled the patient's tongue out during seizures. 16.7% of participants thought that patients with epilepsy were disabled. 50.7% of the participants stated that their children with epilepsy could do any profession. CONCLUSIONS: Our study documented parents' lack of knowledge about epilepsy. Many parents have significant misunderstandings, negative attitudes, and parenting practices, and their knowledge and understanding of epilepsy needs to be improved.

Associations Between Transcranial Doppler Flow Velocities, Laboratory Parameters, and Clinical Features in Turkish Children With Sickle Cell Disease.

OBJECTIVE: Stroke is one of the major complications of sickle cell disease (SCD). Stroke features either occlusion of, or stenosis at, the origin of one of the large intracerebral arteries, the internal carotid artery (ICA), and/or the middle cerebral artery (MCA). PURPOSE: We sought correlations between cerebral blood flow velocities and the laboratory and clinical findings of patients with SCD. MATERIALS AND METHODS: Fifty-three pediatric SCD patients (39 with HbSS, 14 with HbSß0) were analyzed. The mean patient age was 12.9±3.9 years. The control group contained 24 healthy individuals. The time-averaged maximum mean velocity (TAMMV) and resistive index (RI) of the MCA, the TAMMVs of the ICA and vertebral artery (VA), and the diameter of the VA were estimated through transcranial Doppler ultrasonography using a 2.5 MHz transducer, in accordance with the Stroke Prevention Trial in Sickle Cell Anemia (STOP) protocol. We evaluated the relationships between the TAMMVs, laboratory parameters, and clinical findings. RESULTS: The mean±SD MCA TAMMV was 161.2±35.4 cm/s in patients with HbSS and 185.8±62.9 cm/s in patients with HbSß0. The mean MCA TAMMV, RI, ICA TAMMV, VA TAMMV, and VA diameter were 168.5±43.9 cm/s, 0.63±0.06, 116.8±25.5 cm/s, 69.2±18.5 cm/s, and 3.5±0.61 mm for all SCD patients, respectively. In the control group, the mean MCA TAMMV, RI, ICA TAMMV, VA TAMMV, and VA diameter were 103.8±28.8 cm/s, 0.53±0.04, 96.4±27.8 cm/s, 40.3±12.1 cm/s, and 3.4±0.6 mm, respectively. Although the differences were not significant, TAMMVs were higher in HbSß0 patients taking hydroxyurea; those with hemoglobin levels <8 g/dL, ferritin levels >1000 ng/dL, mean platelet volume >12 fL, or red cell distribution width >18%; or required chelation, or were below the third percentiles of weight and height. The TAMMV was significantly higher only in SCD patients who complained of headache. CONCLUSIONS: High ferritin and low hemoglobin levels, a high mean platelet volume, a high red cell distribution width, low weight (below the third percentile), and a short height (below the third percentile) may be associated with elevated cerebral blood flow velocities and an increased stroke risk in children with SCD. Children with such features should be closely followed-up through transcranial Doppler ultrasonography examination.

Magnetic resonance imaging patterns of subacute sclerosing panencephalitis may mimic metabolic disorders: clinical, electroencephalographic and imaging features of six cases.

Subacute sclerosing panencephalitis is a rare, devastating neurodegenerative encephalitis whose diagnosis and therapy are still in question. Atypical clinical presentation and heterogeneity of neuroimaging findings that have been initially confused with metabolic disorders have hampered early diagnosis. To describe a series of patients with subacute sclerosing panencephalitis with imaging findings mimicking metabolic disorders. A total of six patients with subacute sclerosing panencephalitis were diagnosed from January 2012 to December 2016 in whom a metabolic disorder was suspected on initial clinical and MRI findings. Detailed laboratory investigation was performed in all patients. All patients presented with atypical neurologic manifestations, including dystonia, syncopal attacks, involuntary limb movements, meaningless speech and ataxia. Magnetic resonance imaging abnormalities included bilateral putaminal, bilateral posterior periventricular white matter and diffuse or splenial corpus callosum involvement which are particularly unusual in SSPE and mostly observed in metabolic disorders. All patients had elevated cerebrospinal fluid Ig G measles antibodies. The diagnosis of subacute sclerosing panencephalitis through clinical and imaging features can be considerably challenging. It is crucial to differentiate it from metabolic disorders, since the management and clinical outcome are different.

Assessment of PELOD-2 and PIM-3 scores of children coming from the war in Syria.

OBJECTIVES: Since the civil war in Syria began, millions of Syrians have left the country and been forced to migrate to other countries. Turkey is the country with the most refugees hosting 3.6 million refugees. This study aimed to compare the PIM-3 score, PELOD-2 score, PELOD-2 predicted death rate (PDR), mortality rates, demographic data, and outcomes of patients admitted to pediatric intensive care units between refugee children living in Turkey, pediatric patients brought directly from the border by the emergency services, and the general Turkish population. METHODS: This was a retrospective study performed between February 2018 and February 2019 at Hatay State Hospital, very close to the Syrian border. The study included 158 patients. Patients were divided into three groups: Turkish citizens, those living in Turkey as refugees, and those brought from the border. RESULTS: Of the patients, 57 were Turkish citizens, 33 were refugees, and 68 were brought from the border. For patients, the mean PIM-3 score was 25.62±27.70, the PELOD-2 score was 8.03±4.72, and PELOD2-PDR was 16.07±23.45. The median scores for PIM-3, PELOD-2, and PELOD2-PDR of patients brought from the Syrian border were higher compared with Turkish citizens and refugees. There was no significant difference between refugees and Turkish citizens. Of the patients, 27 died, with the distribution being 15% Turkish citizens, 26% refugees, and 59% brought from the border. The mortality of patients transported from the border was statistically significant (P=0.03). CONCLUSION: We consider that the source of the difference between patients brought from the border and those living in Turkey may be associated with the continuing war beyond our borders and children experiencing insufficient care conditions. In conclusion, it is not just weapons that cause death in war, and children unfortunately suffer because of this situation.

Utility of brain fluorodeoxyglucose PET in children with possible autoimmune encephalitis.

PURPOSE: We aimed to explore the utility and additional clinical contribution of brain fluorodeoxyglucose (FDG) PET imaging for the assessment of children with possible autoimmune encephalitis in comparison to brain MRI. MATERIALS AND METHODS: We conducted a retrospective analysis of six pediatric patients (all seronegative) between 2014 and 2019 with the initial diagnosis of possible autoimmune encephalitis who had brain FDG PET/CT or PET/MRI and brain MRI during the diagnostic period. Diagnosis of possible autoimmune encephalitis was based on clinical consensus criteria defined by Graus et al. Brain FDG PET images were visually evaluated. Semiquantitative evaluation was also performed by using the statistical parametric mapping (SPM) method. RESULTS: Cerebrospinal fluid pleiocytosis and electroencephalography abnormality were present in all patients. Mean duration between the onset of symptoms and brain FDG PET imaging was 33 ± 16 days (range: 18-62 days). There were a total of eight brain FDG PET scans (six of PET/MRI and two of PET/CT). In two patients, FDG PET imaging was performed at diagnosis and follow-up. Initial FDG PET and SPM analysis findings were abnormal in all patients (100%), with four demonstrating only hypometabolism. Only a hypermetabolic pattern was seen in one patient, and mixed the hypohypermetabolic pattern was seen in one patient. All patients had metabolic abnormalities in temporal lobes. Additionally, visual and semiquantitative FDG PET findings revealed hypometabolism in extratemporal regions. Brain MRI was abnormal in two patients (33.3%) who had also FDG hypermetabolism in mesial temporal lobes. CONCLUSIONS: Our findings support the usage of fluorine-18-FDG PET/computed tomography (CT)/MRI with quantitative analysis early in the diagnostic work-up of possible autoimmune encephalitis, particularly in those with normal or nonspecific MRI findings. However, it remains a purpose of further studies, if and to what extent FDG PET/CT or integrated FDG PET/MRI with quantitative analysis can improve the diagnostic workup of children with possible autoimmune encephalitis.

Two different missense mutations of PEX genes in two similar patients with severe Zellweger syndrome: an argument on the genotype-phenotype correlation.

Background Peroxisomal biogenesis disorders (PBDs) include a miscellaneous group of diseases which cause serious multisystem disease. Mutations of 13 different PEX genes lead to PBDs including Zellweger syndrome (ZS). Different types of mutations of PEX1 and PEX10 genes are correlated with broad-range phenotypes of PBDs. Case presentation Patient 1 is a 4-month-old boy who was affected by myoclonic seizures, poor oral feeding since birth. The patient was hypotonic and had hepatosplenomegaly. Patient 2 is a 2-month-old boy who presented with decreased movement, severe hypotonia and failure to thrive. The laboratory studies of the patients revealed increased plasma very-long-chain fatty acids (VLCFAs). The genetic analyses of patient 1 demonstrated the first homozygous missense mutation in the PEX10 gene. A novel homozygous missense mutation was found in the PEX1 gene in patient 2. Conclusions This report highlights that the detected homozygous missense mutations of PEX10 and PEX1 genes and the substitutions of specific amino acids lead to the severe form of PBDs.

A Novel Frameshift Mutation in the FGA Gene (c.196 delT) Leading to Congenital Afibrinogenemia.

BACKGROUND: Congenital afibrinogenemia is characterized by the absence of fibrinogen. Congenital fibrinogen disorders result from several mutations in FGA, FGB, or FGG. Their epidemiology is not well known. OBSERVATION: The present study reports on 2 children with congenital afibrinogenemia. The first child, a male who is now 9 years old, was diagnosed with afibrinogenemia after spontaneous intracranial bleeding at the age of 3 years. The second child is a 2-year-old female cousin of the first patient, who was diagnosed with afibrinogenemia after coagulation tests were carried out due to frequent epistaxis and mucocutaneous bleeding. At follow-up, blood samples of the patients and their parents were sent to the Department of Genetic Medicine and Development, University Medical Center, Switzerland, for polymerase chain reaction analysis. In both patients, the novel homozygous frameshift mutation in the FGA exon 3: c.196 delT was detected. The parents of the patients were both heterozygous for the same mutation. CONCLUSIONS: Congenital afibrinogenemia is a rare coagulation disease. The molecular epidemiology of congenital fibrinogen disorders is complex, and the identification of new mutations will help shed light on this complex molecular structure. Therefore, a genetic analysis that includes more centers is needed.

Are We Aware that Hyperphosphatemia Affects Mortality and Morbidity as much as Hypophosphatemia in Pediatric Intensive Care Patients?

OBJECTIVE: Hypophosphatemia was previously shown to affect the duration of admission, mechanical ventilator requirements, mortality and morbidity during pediatric intensive care. Different from previous studies, our study was planned with the aim of showing whether hyperphosphatemia affects morbidity and mortality in pediatric intensive care patients as much as hypophosphatemia. METHOD: Patients' ages, genders, reason for admission, underlying diseases, phosphorus levels examined on admission and on the 1-4th and 5-10th-days, duration on mechanical ventilation, duration of admission, final status and PRISM and PELOD scores calculated in the first 24 hours of admission were recorded. RESULTS: Mortality was distinctly higher for those who were hypophosphatemic and hyperphosphatemic compared to those who were normophosphatemic. The highest mortality was identified in those who were hyperphosphatemic on the 5-10th-days. PELOD scores were only significantly different according to admission phosphorus levels (p:0.04). CONCLUSION: In our study, we identified that hyperphosphatemia is a serious problem as hypophosphatemia for patients who admitted to the PICU. Patients identified to be hyperphosphatemic on admission had a significantly higher PELOD score. The significant difference of hyperphosphatemia in terms of PELOD score is one of the important points shown in our study. It should not be forgotten that like hypophosphatemia, hyperphosphatemia may cause serious problems in pediatric intensive care patients.

Neonatal hypoglycemia: A wide range of electroclinical manifestations and seizure outcomes.

PURPOSE: We examined the various types of epilepsy in children with neonatal hypoglycemia in order to define electroclinical and prognostic features of these patients. METHOD: We retrospectively reviewed the medical records of patients with a history of symptomatic neonatal hypoglycaemia who have been followed at Gazi University Hospital Pediatric Neurology Department between 2006 and 2015. Patients with perinatal asphyxia were excluded. Details of each patient's perinatal history, neurological outcome, epilepsy details, seizure outcome and EEG and brain MRI findings were reviewed. RESULTS: Fourty five patients (range 6 mo-15 y) with a history of symptomatic neonatal hypoglycaemia were included the study. Epilepsy developed in 36 patients and 23 of them had intractable epilepsy. All patients had occipital brain injury. CONCLUSION: We observed that most of the patients, either manifesting focal or generalized seizures, further develop intractable epilepsy. This finding establishes neonatal hypoglycemia as a possible cause to be considered in any case of intractable epilepsy.

The efficacy of orbital ultrasonography and magnetic resonance imaging findings with direct measurement of intracranial pressure in distinguishing papilledema from pseudopapilledema.

INTRODUCTION: The goal of this study was to evaluate the utility of orbital ultrasonography and magnetic resonance imaging in the diagnosis of idiopathic intracranial hypertension (IIH). METHOD: We reviewed the medical records of patients referred to our department for suspected IIH. RESULTS: Seven children were diagnosed with IIH. Nine children revealed pseudopapilledema by optic coherence tomography and/or orbital ultrasonography. When the axial sequences were reexamined, patients with papilledema had optic nerve sheath (ONS) enlargement (6.62 ± 0.70 mm); patients with pseudopapilledema had ONS diameter as 4.62 ± 0.64 mm. There was a significant correlation between the CSF opening pressure and ONS diameter (p < 0.005, r = 0.661). In the papilledema group, the presence of proposed subtle markers as increased tortuosity in the optic nerve was found in six patients. Five of seven patients had a target sign, intraocular protrusion of the optic nerve, and posterior globe flattening. DISCUSSION: Ophthalmological review is important to avoid unnecessary procedures for detection of true papilledema. ONS diameter is a reliable neuroimaging marker as other subtle markers.