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Understanding sleep problems in children with epilepsy: Associations with quality of life, Attention-Deficit Hyperactivity Disorder and maternal emotional symptoms
(W B SAUNDERS CO LTD, 2016-01-01) Ekinci, Ozalp; Isik, Ugur; Gunes, Serkan; Ekinci, Nuran
Purpose: This study aimed to (1) compare sleep problems between children and adolescents with epilepsy and non-epileptic controls, and (2) examine whether there is an association between sleep problems and quality of life, Attention-Deficit Hyperactivity Disorder (ADHD) and mothers' emotional symptoms. Method: Fifty-three patients from a cohort of epilepsy (aged 7-18 years) and 28 controls with minor medical problems (aged 7-18 years) were included. Parents completed Children's Sleep Habits Questionnaire (CSHQ) and Kinder Lebensqualitatsfragebogen: Children's Quality of Life Questionnaire revised (KINDL-R) for patients and controls.Turgay DSM-IV Disruptive Behavior Disorders Rating Scale (T-DSM-IV-S) parent and teacher forms were used to assess ADHD symptoms for patients. Mothers of the patients completed Beck Depression Inventory and State-Trait Anxiety Inventory (STAI). Neurology clinic charts were reviewed for the epilepsy-related variables. Results: Children with epilepsy had a higher CSHQ Total score than the control group. Those with a CSHQ score >56 (which indicates moderate to severe sleep problems) had lower scores on KINDL-R. Parent rated T-DSM-IV-S Total and Hyperactivity-Impulsivity scores, STAI trait and Beck scores were found to be higher in those with a CSHQ score >56. Significant positive correlations were found between CSHQ Total score and T-DSM-IV-S, STAI trait and Beck scores. Binary logistic regression analysis revealed that T-DSM-IV-S Total, Inattention and Hyperactivity-Impulsivity scores were significantly associated with a higher CSHQ Total score. None of the epilepsy-related variables were found to be related with the CSHQ Total score. Conclusion: Among children with epilepsy, sleep problems lead to a poor quality of life. The link between sleep problems and psychiatric symptoms must be conceptualized as a bilateral relationship. ADHD appears to be the strongest predictor of sleep problems. (C) 2016 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.
Response to ``Parents' emotional status, ADHD symptoms and sleep problems in children with epilepsy''
(W B SAUNDERS CO LTD, 2016-01-01) Ekinci, Ozalp; Isik, Ugur; Gunes, Serkan; Ekinci, Nuran
Epilepsy Surgery in Pediatric Patients: A Single-Center Experience
(KARE PUBL, 2019-01-01) Tanrikulu, Bahattin; Isik, Ugur; Ozek, Memet Metin
Objectives: Epilepsy surgery is one of the treatment options in pediatric patients with drug-resistant epilepsy. Our aim is to share demographic data, surgical outcome, possible surgical complications, and factors that affect surgical outcome in pediatric patients with drug-resistant epilepsy who were operated in our clinic. Methods: In this retrospective study, 85 patients who were operated in Acibadem Hospital Pediatric Epilepsy Surgery Clinic between years 2005 and 2017 were included. We investigated the influence of sex, age at seizure onset, side and frequency of seizures, time to surgery, type of epilepsy surgery, and histopathology on pediatric epilepsy surgery outcome. Surgical outcome was assessed by Engel classification system. Statistical analysis was performed with SPSS 20.0 software. Results: There were 56 male (66\%) and 29 female (34\%) participants. Median of the age of seizure onset is 2 years (1 day-15 years). Median of age at operation is 6.2 years (3 months-16 years). Median of the duration of seizure until surgery is 3.2 years (3 months-15.5 years). Median follow-up is 5.6 years (3 months-13.5 years). There were permanent motor neurological deficits in 3 patients (3.5\%). The best surgical outcome was achieved in patients with resective surgeries (p<0.01). Age at seizure onset was the most important factor that influences surgical outcome in our patients (p<0.05). Conclusion: Epilepsy surgery is one of the safe and effective treatment options in pediatric patients with drug-resistant epilepsy.
Re-analysis of whole-exome sequencing data reveals a novel splicing variant in the SLC2A1 in a patient with GLUT1 Deficiency Syndrome 1 accompanied by hemangioma: a case report
(BMC, 2021-01-01) Bozkurt, Tugce; Alanay, Yasemin; Isik, Ugur; Sezerman, Ugur
Background GLUT1 Deficiency Syndrome 1 (GLUT1DS1) is a neurological disorder caused by either heterozygous or homozygous mutations in the Solute Carrier Family 2, Member 1 (SLC2A1) gene. SLC2A1 encodes Glucose transporter type 1 (GLUT1) protein, which is the primary glucose transporter at the blood-brain barrier. A ketogenic diet (KD) provides an alternative fuel for brain metabolism to treat impaired glucose transport. By reanalyzing exome data, we identified a de novo heterozygous SLC2A1 variant in a girl with epilepsy. After reversed phenotyping with neurometabolic tests, she was diagnosed with GLUT1DS1 and started on a KD. The patient's symptoms responded to the diet. Here, we report a patient with GLUT1DS1 with a novel SLC2A1 mutation. She also has a hemangioma which has not been reported in association with this syndrome before. Case presentation A 5-year 8-month girl with global developmental delay, spasticity, intellectual disability, dysarthric speech, abnormal eye movements, and hemangioma. The electroencephalography (EEG) result revealed that she had epilepsy. Magnetic resonance imaging (MRI) showed that non-specific white matter abnormalities. Whole Exome Sequencing (WES) was previously performed, but the case remained unsolved. The re-analysis of WES data revealed a heterozygous splicing variant in the SLC2A1 gene. Segregation analysis with parental DNA samples indicated that the variant occurred de novo. Lumbar puncture (LP) confirmed the diagnosis, and the patient started on a KD. Her seizures responded to the KD. She has been seizure-free since shortly after the initiation of the diet. She also had decreased involuntary movements, her speech became more understandable, and her vocabulary increased after the diet. Conclusions We identified a novel de novo variant in the SLC2A1 gene in a patient who previously had a negative WES result. The patient has been diagnosed with GLUT1DS1. The syndrome is a treatable condition, but the differential diagnosis is not an easy process due to showing a wide range of phenotypic spectrum and the overlapping symptoms with other neurological diseases. The diagnosis necessitates a genomic testing approach. Our findings also highlight the importance of re-analysis to undiagnosed cases after initial WES to reveal disease-causing variants.

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