Clinical and Electrophysiological Features Predicting Response to Antiseizure Medications in Juvenile Absence Epilepsy

Background We aimed to evaluate the clinical findings and electroencephalographic (EEG) characteristics of patients with juvenile absence epilepsy (JAE) and to determine the factors that predict response to antiseizure medications (ASMs) in JAE. Methods We reviewed the medical records of 29 patients with JAE. The patients who were seizure-free during the last 12 months of their follow-up and who did not have generalized spike waves on their last EEG were considered as the treatment-responsive group, and the patients whose clinical seizures persisted during the last 12 months of their follow-up or who had generalized spike waves on their follow-up EEGs were considered as patients who did not respond to ASMs. Results There were 29 patients, 20 girls and nine boys, with a mean age of 13.34 +/- 2.17 years and a follow-up time of 32.1 +/- 11.9 months. Twenty-two cases (75.8%) were evaluated as responsive to treatment. Generalized tonic-clonic seizures (GTCS) were statistically more common in patients who did not respond to ASM. Epileptic seizures began at a younger age in the group that responded to medication. Occipital intermittent rhythmic delta activity (OIRDA) in EEG was significantly higher in the group that responded to the medication. Conclusion Our study shows that concomitant GTCS may predict poorer response to ASMs in JAE. Younger age at diagnosis and OIRDA on EEG may be associated with better response to treatment. Our findings need to be confirmed by further prospective and long-term studies

Benefits of ketogenic diet in a pediatric patient with Ehlers-Danlos syndrome and STXBP1-related epileptic encephalopathy

Purpose/Ai

Clinical predictors of drug-resistant epilepsy in children

Background/aim: In up to 20% of epilepsy patients, seizures may not be controlled despite the use of antiepileptic drugs, either alone or in combination. These individuals are considered to have drug-resistant epilepsy. Drug-resistant epilepsy is usually associated with intellectual disability, psychiatric comorbidity, physical injury, sudden unexpected death, and low quality of life. Early detection and prediction of drug-resistant epilepsy are essential in determining the patient's most appropriate treatment option. This retrospective study aimed to determine the clinical, electroencephalographic, and radiological factors associated with medically intractable childhood seizures. Materials and methods: Data regarding 177 patients diagnosed with drug-resistant epilepsy were compared with 281 patients with drug-responsive epilepsy. Results: Univariate analysis showed that age at seizure onset, having mixed seizure types, history of status epilepticus, history of neonatal seizures, history of both having febrile and afebrile seizures, daily seizures at the onset, abnormality on the first electroencephalogram, generalized epileptic abnormality on electroencephalogram, abnormal neurodevelopmental status, abnormal neuroimaging, and having symptomatic etiology were significant risk factors for the development of drug-resistant epilepsy (p < 0.05). In multivariable analysis, having mixed seizure types, history of status epilepticus, having multiple seizures in a day, intellectual disability, symptomatic etiology, and neuroimaging abnormality remained significant predictors for developing drug-resistant epilepsy. Conclusions: In the course of childhood epilepsy, some clinical features may predict the outcome. Early identification of patients with high risk for drug-resistant epilepsy will help plan the appropriate treatment option. Further prospective studies should confirm these findings

Importance of acylcarnitine profile analysis for disorders of lipid metabolism in adolescent patients with recurrent rhabdomyolysis: Report of two cases

Metabolic myopathies due to disorders of lipid metabolism are a heterogeneous group of diseases. Newborns may present with hypotonia and convulsions, while progressive proximal muscle weakness or recurrent episodes of muscle weakness accompanied by rhabdomyolysis/myoglobinuria may be seen in older ages. There is little knowledge on detection of disorders of lipid metabolism by acylcarnitine profile (ACP) analysis by tandem mass spectrometry outside the neonatal period particularly in cases with recurrent rhabdomyolysis first presenting in adolescence and adulthood. Two adolescent female cases presented with episodes of rhabdomyolysis and muscle weakness. A 13-year-old patient had five episodes of rhabdomyolysis triggered by infections. Tandem mass spectrometry was normal. A 16-year-old female patient was hospitalized eight times due to recurrent rhabdomyolysis. Increased levels of C14:2, C14:1, and C14 were determined in tandem mass spectrometry. Final diagnoses were carnitine palmitoyltransferase II (CPT II) deficiency and very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency. Increased serum levels of long-chain acylcarnitine can guide to the diagnosis of lipid metabolism disorders. Serum ACP should be performed before enzyme assay and genetic studies

The combination of thermal dysregulation and agenesis of corpus callosum: Shapiro′s or/and reverse Shapiro′s syndrome

Shapiro syndrome is an extremely rare condition consisting the clinical triad of recurrent hypothermia, hyperhydrosis and agenesis of the corpus callosum. On the other hand, reverse Shapiro′s sydrome is characterized periodic hyperthermia and agenesis of the corpus callosum. Here, we describe a 3.5-year-old girl with complete agenesis of corpus callosum presenting with recurrent fever and vomiting. She also had hypothermia attacks with accompanying diaphoresis. To the best of our knowledge, there is no described case with episodes of hyperthermia, hypothermia, and vomiting associated with agenesis of the corpus callosum. Recurrent vomiting may be a newly defined symptom associated with these syndromes

Quality of Life and Sleep in Children Diagnosed with Duchenne Muscular Dystrophy and Their Mothers' Level of Anxiety: a Case-Control Study

Objective: Duchenne Muscular Dystrophy (DMD) is the most severe form among a variety of muscular dystrophies. While studies into the etiology and pathophysiology of DMD have progressed fast, there still is no therapy for the disease. The presence of a severe chronic disease such as DMD can seriously affect patients as well as caregivers. In this study, we planned to compare quality of life and sleep between cases diagnosed as DMD and healthy controls while at the same time assessing the levels of anxiety in the patients' mothers

Quality of life and sleep in children diagnosed with duchenne muscular dystrophy and their mothers’ level of anxiety: a case-control study

Objective: Duchenne Muscular Dystrophy (DMD) is the most severe form among a variety of muscular dystrophies. While studies into the etiology and pathophysiology of DMD have progressed fast, there still is no therapy for the disease. The presence of a severe chronic disease such as DMD can seriously affect patients as well as caregivers. In this study, we planned to compare quality of life and sleep between cases diagnosed as DMD and healthy controls while at the same time assessing the levels of anxiety in the patients' mothers

Psychometric properties of the Turkish version of the Epilepsy Disclosure Scale-Youth and Parent Versions

Aim: Due to reactions, such as being ridiculed, blamed, or rejected, children with epilepsy and their families may consider epilepsy as something to be ashamed of, and therefore both the child and parents hide the disease from other people. No valid and reliable measurement in Turkish language that evaluates the level of this behavior, which will greatly affect the management of epilepsy, in both children and parents has been found in the literature. This study was carried out to test the validity and reliability of the Epilepsy Disclosure Scale (EDS) - Youth and Parent Versions in Turkey. Materials and method: A descriptive, comparative, correlational, and methodological design was used in the study. The study was carried out with 200 youth with epilepsy between the ages of 8 and 18, who were registered in the pediatric neurology outpatient clinic of a university hospital located in the western region of Turkey, and their parents. The study data were collected using a Descriptive Information Form and the Turkish version of the EDS-Y and the EDS-P. The data were evaluated using content validity index, explanatory and confirmatory factor analyses, Cronbach's alpha, split-half, and item-total score correlation.Findings: The total explained variance of the Turkish version of the EDS-Y consisting of one subdimension and six items was determined as 53.55%, and the total explained variance of the Turkish version of the EDS-P consisting of one sub-dimension and six items was determined as 59.39%. Cronbach's alpha values were 0.864 for the overall Turkish EDS-Y and 0.881 for the EDS-P. According to the confirmatory factor analysis, the model fit indices of both scales were found to be above 0.90 and the factor loads of all items were greater than 0.40.Conclusion: The Turkish versions of the EDS-Y and EDS-P scales have acceptable internal consistency reliability and content and construct validity and can be used by health professionals to evaluate the concealment of epilepsy from the perspectives of both young people and parents.(c) 2022 Elsevier Inc. All rights reserved