Maternal and paternal quality of life in children with epilepsy: Who is affected more?

INTRODUCTION: This study aimed to evaluate and compare parental quality of life (QoL), anxiety, and depression in mothers and fathers of children with epilepsy (CWE). MATERIAL AND METHODS: Thirty-three mothers and 33 fathers of 33 CWE (aged 1-16 years) completed the World Health Organization Quality of Life-Brief Form (WHOQOL-BREF), Beck Depression Inventory (BDI), and Beck Anxiety Inventory (BAI) questionnaires. Scores for the questionnaires were compared for 36 mothers and 36 fathers of 36 healthy children (aged 1-16 years). The control group consisted of hospital staff who had healthy children. RESULTS: Mothers of CWE had significantly lower scores for the environmental domain of the WHOQOL-BREF, BDI, and BAI questionnaires compared with mothers of healthy children (p < 0.05), while fathers showed no significant difference (p > 0.05). Furthermore, mothers of CWE had significantly lower scores for the psychological domain of the WHOQOL-BREF compared with fathers (p < 0.05). The environmental domain of the WHOQOL-BREF questionnaire was negatively correlated with the number of children for all parents (r = -0.342, p = 0.005), and the BAI and BDI scales were positively correlated with the number of children (r = 0.386, p = 0.001; r = 0.395, p = 0.001, respectively). CONCLUSION: Mothers of CWE showed lower scores for the psychological domain in QoL analysis compared with fathers of CWE, as well as decreased emotional wellbeing and lower QoL compared with mothers of healthy children. These results reveal that parents of CWE with a larger family size are more affected and that mothers of CWE are more affected. The reasons for these findings and possible interventions that might improve QoL, particularly in mothers with CWE, require further research.

Measures of ventricles and evans' index: from neonate to adolescent.

Ventricle sizes are important for the early diagnosis of hydrocephalus or for follow-up after ventriculostomy. Diameters of ventricles may change, especially in childhood. This study aims to provide normative data about ventricle diameters. Among 14,854 cranial MRI performed between 2011 and 2013, 2,755 images of Turkish children aged 0-18 years were obtained. After exclusions, 517 images were left. Four radiologists were trained by a pediatric radiologist. Twenty images were assessed by all radiologists for a pilot study to see that there was no interobserver variation. There were 10-22 children in each age group. The maximum width of the third ventricle was 5.54 ± 1.29 mm in males in age group 1 and 4.98 ± 1.08 mm in females in age group 2. The Evans' index was <0.3 and consistent with the literature. The third ventricle/basilar artery width ratio was found to be >1 and <2 in all age groups and both gender groups. Our study showed the ventricle size data of children in various age groups from newborn to adolescent. The ventricle volume/cerebral parenchyma ratio seems to decrease with age. We think that these data can be applied in clinical practice, especially for the early diagnosis of hydrocephalus.

Acquired epileptiform opercular syndrome: F-18 fluorodeoxyglucose positron emission tomography (FDG-PET) findings and efficacy of levetiracetam therapy.

We report a five-year-old girl presenting with dysphagia, dysarthria, drooling, and generalized tonic convulsions in whom the final diagnosis was acquired epileptiform opercular syndrome. Levetiracetam monotherapy at a dosage of 40 mg/kg/day improved the clinical findings, and seizures were controlled at the end of the first month of treatment. Six months after the initial diagnosis, she presented with speech deterioration and dysarthria. At this time, although sleep and awake electroencephalography (EEG) were normal, FDG-PET showed hypometabolic and hypermetabolic regions in the anterior/inferior and anterior regions of the right frontal lobe, respectively. By increasing before levetiracetam dosage to 50 mg/kg/day, the clinical findings resolved and the patient is still seizure free. Acquired epileptiform opercular syndrome is a rare epileptic disorder in which the seizures are resistant to conventional antiepileptic drugs. Levetiracetam may be an effective antiepileptic drug in controlling seizures and other clinical findings in acquired opercular epileptiform syndrome. Hypometabolic and hypermetabolic regions in FDG-PET study may be due to ongoing seizure activity or impaired glucose metabolism in this disorder.

Osteopenia in children with cerebral palsy can be treated with oral alendronate.

PURPOSE: Cerebral palsy is one of the most common reasons of osteopenia in childhood. Patients have a significantly decreased bone mineral density, and painful fractures with minor traumas are common. Biphosphonates in the treatment of childhood osteoporosis are increasingly being used. This study aimed to evaluate the efficacy of oral alendronate treatment in children with cerebral palsy. METHODS: Twenty-six children (16 boys and 10 girls) aged 3 to 17 years who had quadriplegic cerebral palsy and osteopenia were included in the study. The patients received alendronate (1 mg/kg/week), calcium (600 mg/day), and vitamin D(3) (400 U/day) over a year. A complete blood count, kidney and liver functional tests, plasma calcium, phosphate and alkaline phosphatase levels, and lumbar vertebral bone mineral density were measured before and after treatment. RESULTS: Compared with pretreatment values, bone mineral density, serum calcium, and phosphate levels of the patients statistically increased and alkaline phosphatase levels decreased after treatment. No patient needed to interrupt treatment because of side effects. CONCLUSIONS: Oral alendronate at a dose of 1 mg/kg/week for the treatment of osteopenia in children with cerebral palsy was found to be safe and effective.

Renal agenesis in a child with ipsilateral hemihypertrophy.

Hemihypertrophy is a clinical condition defined as an asymmetric enlargement of one side of the body. Inguinal hernias, renal cysts, cryptorchidism, ectasias of collecting tubes, medullary sponge kidney and horse-shoe kidney are examples of abnormalities associated with hemihypertrophy that have been described in the literature. We report here a 17.2-year-old patient with a left hemihypertrophy and renal agenesis with contralateral right compensatory renal hypertrophy together with normal renal function and blood pressure in the absence of proteinuria. He also presented with faint macular hyperpigmented skin lesions on his left upper arm, forehead and abdomen. To the best of our knowledge, this is the first report of renal agenesis and hemihypertrophy in the same patient. Hemihypertrophy can be seen as a component of Klippel-Trenaunay-Weber syndrome. The other components of this syndrome are varicose veins, skin naevus and arteriovenous malformations. Although renal agenesis, hemihypertrophy and hyperpigmented macular skin lesions (skin naevuses) may be incidental findings, together they may form a variant of Klippel-Trenaunay-Weber syndrome, as in our case.

Plant growth regulator (4-chlorophenoxy acetic acid) increases apoptosis in gonads of rats without changing hormonal levels.

BACKGROUND/AIMS: Plant growth regulators are considered to leave minimal amounts of remnants and therefore cause no significant side effects in humans. In this study, we aimed to investigate the hormonal and histopathological effects of 4-chlorophenoxy acetic acid (4-CPA), a commonly used plant growth regulator, on the gonadal functions of rats. METHODS: The study was implemented on 64 Wistar albino rats (20 days old). Forty-eight rats received 4-CPA every day until 50 days of age. The rats were randomized into 4 groups (a control group and three 4-CPA groups with doses of 25, 50 and 100 mg/kg/day); each group was further divided into males and females, making a total of 8 groups. The levels of FSH, LH, testosterone, estradiol, leptin, inhibin-B and neuropeptide-Y were measured. Histopathological examination of the testes and ductus deferens in male rats, and ovaries and uterus of female rats (caspase-3 and -9 immunoreactivity) was performed. RESULTS: Although hormone levels were similar between the groups, rats that received 4-CPA showed significantly higher degrees of apoptosis compared to the control group (p < 0.001) and increased doses of 4-CPA were directly correlated with the amount of apoptosis (p < 0.001). CONCLUSION: 4-CPA induced apoptosis in the gonads of rats without concurrent changes in plasma hormone levels.

Neuroleptic malignant syndrome due to risperidone treatment in a child with Joubert syndrome.

Joubert syndrome is a rare autosomal recessive disease characterized by hypotonia, ataxia, episodic hyperpnea, psychomotor retardation, abnormal ocular movements, cerebellar vermian hypoplasia, and molar tooth sign on magnetic resonance imaging. Neuroleptic malignant syndrome is an uncommon and potentially fatal idiosynchratic reaction of antipsychotic drugs, in which the clinical scenario encompass muscular rigidity, hyperthermia, autonomic dysfunction, altered consciousness, high creatinine phosphokinase levels, and leukocytosis. This report describes a case of neuroleptic malignant syndrome due to risperidone in a child with Joubert syndrome.

Perinatal risk factors affecting the maternal and fetal asymmetric dimethylarginine levels.

The aim of this study was to investigate the relationship between maternal risk factors, neonatal demographic features and asymmetric dimethylarginine (ADMA) levels in a randomly selected group of pregnancies during delivery. The subjects were categorized into five groups as having: no maternal risk factor, maternal hypertension, gestational diabetes, maternal smoking history, and meconium staining. Blood samples were taken from the mothers before delivery and from the umbilical vein after delivery. Mean ADMA levels were significantly lower in the cord blood when compared with maternal levels in all groups. Mean ADMA level of neonates in the meconium staining group was found to be significantly higher than in the other groups (p<0.001). Maternal age, delivery type, parity and sex did not show any effect on cord blood ADMA levels. Overall, umbilical vein ADMA levels are modulated independent of several maternal features and risk factors. Although these factors are interrelated and it is difficult to interpret the relevant data separately, the most significant factor affecting umbilical vein ADMA levels seems to be perinatal hypoxia as in the case of meconium staining.

Effects of aminoguanidine and melatonin on intestinal ischemia/reperfusion injury in rats: An assessor-blinded, controlled experimental study.

BACKGROUND: The reactive oxygen and nitrogen species generated during reperfusion of tissue are characteristic of intestinal ischemia and reperfusion (IIR) injury. OBJECTIVE: This study was designed to assess whether the administration of aminoguanidine (AG), a selective nitric oxide synthase inhibitor, and/or melatonin has protective potential in IIR injury. METHODS: Male Wistar albino rats (age, 3-4 weeks; weight, 100-150 g) were divided in a nonrandom fashion into 5 groups of equal size: group 1, IIR injury + AG 100 mg/kg; group 2, IIR injury + melatonin 10 mg/kg; group 3, IIR injury + AG 100 mg/kg + melatonin 10 mg/kg; group 4, sham operation; and group 5, IIR injury alone. Sixty minutes of intestinal ischemia and 4 hours of reperfusion were carried out in all but the sham-operation group. Ileal specimens were obtained from all rats to determine the extent of histologic changes, measure tissue concentrations of malondialdehyde (MDA) and protein carbonyl (PC), and assess the activity of superoxide dismutase (SOD) and glutathione peroxidase (GPx). Specimens were also assessed and scored by a pathologist blinded to the experiment and the data. RESULTS: Forty rats were divided into 5 groups of 8 each; all 40 survived until study end. In the IIR injury-alone group, mean (SD) MDA concentration and PC content were significantly higher than that of the sham-operation group, and SOD and GPx activity were significantly lower: MDA concentration, 0.86 (0.03) versus 0.54 (0.01) mmol/g protein, respectively; PC content, 0.60 (0.02) versus 0.34 (0.01) mmol/g protein; SOD activity, 104.33 (43.14) versus 2954.72 (109.55) U/g protein; and GPx activity, 10.44 (0.63) versus 24.34 (1.77) U/g protein (all, P < 0.001). Administration of AG, melatonin, and the AG/melatonin combination was associated with significantly higher SOD (1802.31 [102.35], 1776.50 [58.41], and 1924.28 [98.10] U/g protein, respectively) and GPx (17.36 [1.23], 15.96 [1.08], and 18.06 [1.72] U/g protein) activity and significantly lower MDA concentration (0.62 [0.02], 0.64 [0.02], and 0.56 [0.01] mmol/g protein) and PC content (0.53 [0.03], 0.51 [0.01], and 0.49 [0.02] mmol/g protein) compared with the IIR injury-alone group (P < 0.001). Mean intestinal mucosal injury scores were significantly lower in the 3 treatment groups (2.12 [0.35], 1.75 [0.46], and 1.12 [0.35]) compared with the IIR injury-alone group (3.87 [0.35]; all, P < 0.001). CONCLUSION: In this study, AG, melatonin, or both administered in combination were associated with improvements in oxidative markers in this rat model of IIR injury.

Evaluation of the relationship between C677T variants of methylenetetrahydrofolate reductase gene and hyperhomocysteinemia in children receiving antiepileptic drug therapy.

Homocysteine (Hcy) is a sulfur-containing amino acid involved in methionine metabolism. Elevated plasma Hcy concentration is a possible risk factor for vascular disease. Folate and vitamin B-12 are vitamins that are necessary for remethylization of Hcy to methionine. The methylenetetrahydrofolate reductase (MTHFR) is the key enzyme in remethylation of Hcy to methionine and supplies the required 5-methyltetrahydrofolate as the methyl donor for this reaction. It is well known that some antiepileptic drugs (AED) can lead to hyperhomocysteinemia by affecting the levels of folate and vitamin B-12. The C677T variant of MTHFR gene can also lead to hyperhomocysteinemia particularly when serum folate level is decreased. In this study, we investigated the levels of serum folate, vitamin B-12 and Hcy in epileptic patients receiving carbamazepine (CBZ) or valproic acid (VPA) as monotherapy, and we also evaluated the probable contribution of the C677T variant of MTHFR gene in hyperhomocysteinemia. A total of 93 patients with idiopathic epilepsy receiving CBZ or VPA as monotherapy were included in this study. CBZ and VPA groups consisted of 29 and 64 patients, respectively. The control group comprised 62 healthy children. We measured serum folate, vitamin B-12 and Hcy levels in each group. We found that mean serum folate level was statistically lower and mean Hcy level was higher in epileptic patients receiving CBZ or VPA when compared with those of controls'. We also determined the C677T variants of MTHFR gene (as normal, heterozygote or homozygote) in epileptic patients. We compared the variant groups for serum folate, vitamin B-12 and Hcy levels and found no significant differences among them. In conclusion, C677T variants of MTHFR gene have no contribution in hyperhomocysteinemia in epileptic patients receiving CBZ or VPA.

Serum and liver tissue biotinidase enzyme activity in rats which were administrated to valproic acid.

Valproic acid (VPA) is an antiepileptic drug widely used and well-tolerated by most of patients. Its non-dose-dependent side effects seen mostly are the temporary gastrointestinal disturbances including anorexia and nausea, and hepatoxicity. As to its dose-dependent side effects are the weight loss, tremor, skin eruption and the alopecia. In this study we aimed to put forward the biotinidase deficiency considered as a possible cause of alopecia in the rats administered with valproic acid, and the correlation between liver and serum biotinidase enzyme activities (BEA) and transaminases, albumin and serum valproic acid levels. In our study, 4 groups of which one of them was a control group, each consisting of 15 male Wistar rats was organized. 200, 400, and 600 mg/kg/day of VPA, and distilled water, two divided doses per day, were administered per orally to VPA-1, VPA-2, VPA-3, and control group, respectively, in 60 days. Their serum and liver biotinidase enzyme activities, serum AST, ALT, albumin, and valproic acid levels were measured. Alopecia was seen in the subjects of 6.6% of VPA-1, 13.3% of VPA-2, and 26.6% of VPA-3. Significant difference in the liver tissues BEA was noted only between VPA-3 and the control group. Reductions were observed both in the liver tissues BEA and the serum BEA levels, which are inversely proportional to the VPA doses. A positive correlation between the liver biotinidase enzyme activities and the serum valproic acid levels, and the negative correlation between the liver tissues biotinidase activities and the serum valproic acid levels were noted, respectively. As a conclusion, the partial alopecia which is an initial symptom of reduced biotinidase activity may also be created depending on the reduction of biotinidase activity during valproic acid therapy. The alopecia which may further be observed in the patients receiving valproic acid therapy may be prevented by means of administration of biotin in a dose of 10 mg/day.

Breath-holding spells may be associated with maturational delay in myelination of brain stem.

PURPOSE: To evaluate possible contribution of maturational delay of brain stem in the etiology of breath-holding spells in children using brain stem auditory evoked potentials. METHODS: The study group included children who experienced breath-holding spells. The control group consisted of healthy age- and sex-matched children. Age, gender, type and frequency of spell, hemoglobin, and ferritin levels in study group and brain stem auditory evoked potentials results in both groups were recorded. Study group was statistically compared with control group for brain stem auditory evoked potentials. RESULTS: The mean age of study and control groups was 26.3 ± 14.6 and 28.9 ± 13.9 months, respectively. The III-V and I-V interpeak latencies were significantly prolonged in the study group compared with the control group (2.07 ± 0.2 milliseconds; 1.92 ± 0.13 milliseconds and 4.00 ± 0.27 milliseconds; 3.83 ± 0.19 milliseconds; P = 0.009 and P = 0.03, respectively). At the same time, III-V and I-V interpeak latencies of patients without anemia in the study group compared with those of control group were significantly prolonged (2.09 ± 0.24 milliseconds; 1.92 ± 0.13 milliseconds and 4.04 ± 0.28 milliseconds; 3.83 ± 0.19 milliseconds; P = 0.007 and P = 0.01, respectively). CONCLUSIONS: Our results consider that maturational delay in myelination of brain stem may have a role in the etiology of breath-holding spells in children.

Measures of pituitary gland and stalk: from neonate to adolescence.

OBJECTIVE: The aim of this study is to provide normative data about pituitary diameters in a pediatric population. Pituitary imaging is important for the evaluation of the hypothalamo-pituitary axis defect. However, data about normal pituitary gland diameters and stalk are limited, especially in children. Structure and the measurements of pituitary gland and pituitary stalk may change due to infection, inflammation, or neoplasia. METHODS: Among 14,854 cranial/pituitary gland magnetic resonance imaging scans performed from 2011 to 2013, 2755 images of Turkish children aged between 0 and 18 were acquired. After exclusions, 517 images were left. Four radiologists were educated by an experienced pediatric radiologist for the measurement and assessment of the pituitary gland and pituitary stalk. Twenty cases were measured by all radiologists for a pilot study and there was no interobserver variability. RESULTS: There were 10-22 children in each age group. The maximum median height of the pituitary gland was 8.48±1.08 and 6.19±0.88 mm for girls and boys, respectively. Volumes were also correlated with gender similar to height. Minimum median height was 3.91±0.75 mm for girls and 3.81±0.68 mm for boys. The maximum and minimum pituitary stalk basilar artery ratios for girls were 0.73±0.12 and 0.59±0.10 mm. The ratios for boys were 0.70±0.12 and 0.56±0.11 mm. CONCLUSION: Our study demonstrated the pituitary gland and stalk size data of children in various age groups from newborn to adolescent. It is thought that these data can be applied in clinical practice. Future prospective follow-up studies with larger samples, which correlate the structural findings with the clinical and laboratory results are awaited.

Ring chromosome 21 in the differential diagnosis of waddling gait.

Ring chromosome 21 syndrome is a rare clinical condition. Most of the patients have a recognizable phenotype and multisystem involvement is described. Structural neurologic anomalies have also been described, but waddling gait due to lower motor neuron involvement has not been previously reported in association with ring 21.

New adipocytokines (vaspin, apelin, visfatin, adiponectin) levels in children treated with valproic acid.

AIM: To investigate the relationship between the newly discovered adipocytokines and increasing body weight (paralleled by increased insulin resistance), and antiepileptic drug therapy with valproic acid (VPA). DESIGN AND METHODS: 44 children with idiopathic, generalized epilepsy treated with valproic acid (VPA), and 40 control group children were included in this study. RESULTS: Both the VPA-treated group and the control group showed no significant difference in terms of age, total cholesterol and LDL-cholesterol. Subjects in the VPA group had significantly higher BMI-SDS than control subjects (2.3±0.15 vs -0.04±0.8, p<0.001). HOMA-IR, apelin and visfatin levels were significantly increased (4.95±2.07 vs 1.46 vs 0.6, p<0.001; 2.21±1.14 vs 0.57±0.15, p<0.001; 31±12 vs 18.4±10.4, p<0.001; respectively), and adiponectin levels were significantly lower in the VPA group (2.02±1.03 vs 12.4±6.1, p<0.001). Triglyceride levels were significantly increased (126±70 vs 80±40 mg/dL, p=0.001), and HDL-cholesterol levels were significantly lower in the VPA group. Vaspin levels were higher in the VPA group than the control group, but the difference was not significant. CONCLUSION: Based on the findings of this study, apelin, visfatin and adiponectin levels may be considered as potential regulators of glucose and fat metabolism during valproic acid therapy.

Proanthocyanidin prevents methotrexate-induced intestinal damage and oxidative stress.

Mucositis is an important dose-limiting side effect of methotrexate for which there is no definitive prophylaxis or treatment. This study was designed to investigate whether proanthocyanidin had a protective effect on methotrexate-induced small intestine damage. Twenty-eight albino rats were randomized into four groups. To the first group, methotrexate was applied as a single dose (20mg/kg) intraperitoneally. To the second group, proanthocyanidin (100mg/kg) was given orally every day by gavage in addition to methotrexate application until the rats were killed. To the third group, only proanthocyanidin was administered. The fourth group was the control. All animals were sacrificed 4 days after the intraperitoneal injection of methotrexate for histopathological examination and the assay for tissue malondialdehyde, superoxide dismutase and glutathione peroxidase levels. Methotrexate caused jejunal injury and increased malondialdehyde levels. Administration of proanthocyanidin decreased the jejunal damage and malondialdehyde level, which were caused by methotrexate treatment and increased superoxide dismutase and glutathione peroxidase levels. These results suggest that proanthocyanidin may protect the small intestine of rats from methotrexate-induced damage. The effects of proanthocyanidin could result from its antioxidant properties.

The effects of biotin supplementation on serum and liver tissue biotinidase enzyme activity and alopecia in rats which were administrated to valproic acid.

Valproic acid (VPA) is a widely used and well-tolerable antiepileptic drug in epileptic patients. However, VPA has many side effects dose-dependent or non-dose-dependent. It is reported that VPA treatment may lead to biotin deficiency and low serum and liver tissue biotinidase enzyme activity (BEA). Major clinical manifestations in biotin deficiency are seborrheic dermatitis, dry skin, fine and brittle hair, and alopecia. We aimed to investigate the effects of biotin supplementation on serum and liver tissue BEA and alopecia during VPA therapy. Rats were randomly divided into 4 groups, each consisted of 15 rats (VPA-B1, VPA-B2, VPA, and control). Except the control group, all groups were administrated VPA dose of 600 mg/kg/d per oral (PO) for 60 days with 12h intervals two divided doses. VPA-B1 was administrated biotin dose of 6 mg/kg/d and VPA-B2 was administrated biotin dose of 0.6 mg/kg/d. In the third week of the study, we determined alopecia in the study groups. Alopecia was seen in the subjects of 13.3% of VPA-B1 (n=2), 13.3% of VPA-B2 (n=2), and 40% of VPA (n=6). But statistical significant effect on alopecia by biotin supplementation was not able to be determined between the study groups. In the control group, alopecia was not observed. The ratios of alopecia in the study groups were statistically higher than the control group (p=0.028). Itchiness was more obvious in the study groups compared with the control group. Serum biotin levels of the biotin supplemented groups (VPA-B1 and VPA-B2) were higher than the other groups (VPA and control group). Serum biotin levels of the VPA group were lower than the control group. There were significant decreases in the levels of serum and liver tissue BEA of the study groups compared with the control group. In conclusion we showed that VPA usage reduced the serum and liver tissue BEA and impaired the biotin utilization by affecting the liver. Partial biotinidase deficiency may lead to alopecia. It might be prevented by biotin supplementation in the patients receiving VPA therapy. We considered that further studies are necessary to find out the effective and safe biotin dose.

Prenatal diagnosis of primary microcephaly in two consanguineous families by confrontation of morphometry with DNA data.

BACKGROUND: Prenatal diagnosis of autosomal recessive primary microcephaly (MCPH) is hampered by the fact that fetal head size is normal until late in the pregnancy, and by the vast genetic heterogeneity and impractically large size of the currently known genes for the disorder. OBJECTIVE: Combine DNA and morphometric approaches into earlier prenatal diagnosis of MCPH. METHODS: We evaluated two consanguineous families affected with MCPH with an ongoing, second-trimester pregnancy. Fetal heads were evaluated by serial ultrasound scannings, and DNA was sampled from parents, probands, and fetal cells, for a focused mutation search and linkage analysis. RESULTS: DNA linkage analysis and fetal head morphometry were concordant in one family and probably concordant in the second, showing a healthy fetus and an affected fetus, respectively. CONCLUSIONS: Cautious confrontation of linkage and morphometric data in selected cases of MCPH from consanguineous families may decrease false-positive and false-negative errors of second-trimester prenatal diagnosis.