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https://www.readbyqxmd.com/read/28103894/impacts-of-caring-for-a-child-with-the-cdkl5-disorder-on-parental-wellbeing-and-family-quality-of-life
#1
Yuka Mori, Jenny Downs, Kingsley Wong, Barbara Anderson, Amy Epstein, Helen Leonard
BACKGROUND: Although research in this area remains sparse, raising a child with some genetic disorders has been shown to adversely impact maternal health and family quality of life. The aim of this study was to investigate such impacts in families with a child with the CDKL5 disorder, a newly recognised genetic disorder causing severe neurodevelopmental impairments and refractory epilepsy. METHODS: Data were sourced from the International CDKL5 Disorder Database to which 192 families with a child with a pathogenic CDKL5 mutation had provided data by January 2016...
January 19, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28100327/-intermittent-convulsions-for-1-5-years-and-psychomotor-retardation-in-a-girl
#2
Li Yang, Yu-Fen Li, Li-Yun Xu, Na Xu, Yu-Zeng Han, Jun-Lin Wang, Ji-Guo Song, Ying Hua, Li-Ping Zhu
The study reports a girl with pyridoxine-dependent epilepsy. The girl was admitted at the age of 2 years because of intermittent convulsions for 1.5 years and psychomotor retardation. She had a history of "hypoxia" in the neonatal period. At the age of 5 months recurrent epileptic seizures occurred. The child was resistant to antiepileptic drugs, and had many more seizures when she got cold or fever. She also had a lot of convulsive status epilepticus. No discharges were found during several video-EEG monitorings...
January 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/28079875/early-postnatal-illness-severity-scores-predict-neurodevelopmental-impairments-at-10-years-of-age-in-children-born-extremely-preterm
#3
J W Logan, O Dammann, E N Allred, C Dammann, K Beam, R M Joseph, T M O'Shea, A Leviton, K C K Kuban
OBJECTIVE: A neonatal illness severity score, The Score for Neonatal Acute Physiology-II (SNAP-II), predicts neurodevelopmental impairments at two years of age among children born extremely preterm. We sought to evaluate to what extent SNAP-II is predictive of cognitive and other neurodevelopmental impairments at 10 years of age. STUDY DESIGN: In a cohort of 874 children born before 28 weeks of gestation, we prospectively collected clinical, physiologic and laboratory data to calculate SNAP-II for each infant...
January 12, 2017: Journal of Perinatology: Official Journal of the California Perinatal Association
https://www.readbyqxmd.com/read/28078312/biallelic-scn10a-mutations-in-neuromuscular-disease-and-epileptic-encephalopathy
#4
Marios Kambouris, Julien Thevenon, Ariane Soldatos, Allison Cox, Joshi Stephen, Tawfeg Ben-Omran, Yasser Al-Sarraj, Hala Boulos, William Bone, James C Mullikin, Alice Masurel-Paulet, Judith St-Onge, Yannis Dufford, Corrine Chantegret, Christel Thauvin-Robinet, Jamil Al-Alami, Laurence Faivre, Jean Baptiste Riviere, William A Gahl, Alexander G Bassuk, May Christine V Malicdan, Hatem El-Shanti
OBJECTIVES: Two consanguineous families, one of Sudanese ethnicity presenting progressive neuromuscular disease, severe cognitive impairment, muscle weakness, upper motor neuron lesion, anhydrosis, facial dysmorphism, and recurrent seizures and the other of Egyptian ethnicity presenting with neonatal hypotonia, bradycardia, and recurrent seizures, were evaluated for the causative gene mutation. METHODS AND RESULTS: Homozygosity mapping and whole exome sequencing (WES) identified damaging homozygous variants in SCN10A, namely c...
January 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/28069620/prenatal-exposure-to-antiepileptic-drugs-and-use-of-primary-healthcare-during-childhood-a-population-based-cohort-study-in-denmark
#5
Anne Mette Würtz, Dorte Rytter, Claus Høstrup Vestergaard, Jakob Christensen, Mogens Vestergaard, Bodil Hammer Bech
OBJECTIVE: Prenatal exposure to antiepileptic drugs (AEDs) has been associated with adverse outcomes in the offspring such as congenital malformations and neuropsychiatric disorders. The objective of this study was to investigate whether prenatal exposure to AEDs is also associated with more frequent use of primary healthcare during childhood. DESIGN: Population-based cohort study. SETTING: Nationwide national registers in Denmark. PARTICIPANTS: All live-born singletons in Denmark during 1997-2012 identified in the Danish National Patient Register and followed until 31 December 2013 (n=963 010)...
January 5, 2017: BMJ Open
https://www.readbyqxmd.com/read/28064325/childhood-epilepsies-what-should-a-pediatrician-know
#6
Fahad A Bashiri
Seizures in children are among the most common neurological disorders. A pediatrician should know how to approach a child who presents with a seizure. This review will focus on points that are important in the evaluation of children who have experienced seizures. A comprehensive and neurologically focused framework for history taking and a thorough clinical examination are the cornerstones in diagnosing and managing seizures. This article reviews the clinical approach to the diagnosis, investigation, and management of epilepsy in children, excluding neonatal seizures...
January 2017: Neurosciences: the Official Journal of the Pan Arab Union of Neurological Sciences
https://www.readbyqxmd.com/read/28051218/parental-satisfaction-of-an-assessment-unit-for-autistic-spectrum-disorders
#7
Arwa Ben Amor, Soumeyya Halayem, Maissa Touati, Ahlem Belhadj, Riadh Gouider, Ridha Mrad, Asma Bouden
Background - Based on the recognized principles of assessment of autistic disorders, the child and adolescent psychiatry department in Razi Hospital developed an assessment unit with diagnostic as well as therapeutic roles. The aim of this work was to examine its functioning and to analyze the parents' perceptions about the unit services. Methods - We gathered the parental satisfaction about the unit by the means of a hetero-questionnaire. Results - Fifty-two parents of children evaluated within the unit were included...
June 2016: La Tunisie Médicale
https://www.readbyqxmd.com/read/28038386/cognitive-functions-in-children-exposed-to-antiepileptic-drugs-in-utero-study-in-georgia
#8
Sofia Kasradze, Nino Gogatishvili, Giorgi Lomidze, Tamar Ediberidze, Marine Lazariashvili, Ketevan Khomeriki, Shorena Mamukadze, Mariam Metreveli, Tamar Gagoshidze, Nino Tatishvili, Torbjörn Tomson
OBJECTIVE: The cognitive teratogenicity of antiepileptic drugs (AEDs) has gained increasing attention in the last decade. The objective of the current study was to assess the effects of AED fetal exposure on the cognitive development of children of mothers with epilepsy from Georgia in a controlled study taking into consideration major confounding factors. METHODS: A prospective cohort group was formed from children and mothers registered in the Georgian National AED-Pregnancy Registry...
December 27, 2016: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28038385/changes-in-quality-of-life-as-a-result-of-ketogenic-diet-therapy-a-new-approach-to-assessment-with-the-potential-for-positive-therapeutic-effects
#9
Susan Bruce, Anita Devlin, Linda Air, Lucy Cook
There are difficulties inherent in measuring Quality of life (QoL) in patients with chronic illness, including agreement on definitions of quality of life and the type of measure used, disease specific or generic. Well validated QoL instruments for epilepsy exist but focus on capturing common themes pertinent to children and families as a group instead of focusing on themes important to individual patients and their families/carers. In addition, it is common for numerous items on these inventories to be left incomplete or responded to with "not applicable" since many of the items are not suitable for children with disabilities and their families...
December 27, 2016: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28031547/behavioral-problems-in-indian-children-with-epilepsy
#10
Om P Mishra, Aishvarya Upadhyay, Rajniti Prasad, Shashi K Upadhyay, Satya K Piplani
OBJECTIVE: To assess prevalence of behavioral problems in children with epilepsy. METHODS: This was a cross -sectional study of children with epilepsy, and normal controls enrolled between July 2013 to June 2015. Child Behavior Checklist (CBCL) was used as a tool to assess the behavior based on parents reported observation. RESULTS: There were 60 children with epilepsy in 2-5 years and 80 in 6-14 years age groups, and 74 and 83 unaffected controls, respectively...
December 5, 2016: Indian Pediatrics
https://www.readbyqxmd.com/read/28018465/ictal-sinus-pause-and-myoclonic-seizure-in-a-child
#11
Hye Ryun Kim, Gun-Ha Kim, So-Hee Eun, Baik-Lin Eun, Jung Hye Byeon
Ictal tachycardia and bradycardia are common arrhythmias; however, ictal sinus pause and asystole are rare. Ictal arrhythmia is mostly reported in adults with temporal lobe epilepsy. Recently, ictal arrhythmia was recognized as a major warning sign of sudden unexpected death in epilepsy. We present an interesting case of a child with ictal sinus pause and asystole. A 27-month-old girl was hospitalized due to 5 episodes of convulsions during the past 2 days. Results of routine electroencephalography (EEG) were normal, but she experienced brief generalized tonic seizure for 3 days...
November 2016: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/27997354/applications-of-transcranial-direct-current-stimulation-in-children-and-pediatrics
#12
Guadalupe Nathzidy Rivera-Urbina, Michael A Nitsche, Carmelo M Vicario, Andrés Molero-Chamizo
Transcranial direct current stimulation (tDCS) is a neuromodulatory noninvasive brain stimulation tool with potential to increase or reduce regional and remote cortical excitability. Numerous studies have shown the ability of this technique to induce neuroplasticity and to modulate cognition and behavior in adults. Clinical studies have also demonstrated the ability of tDCS to induce therapeutic effects in several central nervous system disorders. However, knowledge about its ability to modulate brain functions in children or induce clinical improvements in pediatrics is limited...
December 20, 2016: Reviews in the Neurosciences
https://www.readbyqxmd.com/read/27935018/tolerability-and-efficacy-of-perampanel-in-children-with-refractory-epilepsy
#13
Eli Heyman, Eli Lahat, Noa Levin, Orna Epstein, Mirit Lazinger, Matitiahu Berkovitch, Revital Gandelman-Marton
AIM: There are few reports on the tolerability and efficacy of perampanel, a new antiepileptic drug with a novel mechanism of action, in children and adolescents. We aimed to describe our experience with perampanel add-on and mono-therapy in children with refractory epilepsy. METHOD: Computerized medical records of children treated with perampanel in the paediatric neurology clinic from December 2012 to October 2015 were reviewed. RESULTS: Twenty-four children treated with perampanel (15 females, 9 males) aged 1 year 6 months to 17 years (mean 10y, standard deviation [SD] 4y 5mo) were identified...
December 9, 2016: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/27928725/the-efficacy-of-the-ketogenic-diet-in-infants-and-young-children-with-refractory-epilepsies-using-a-formula-based-powder
#14
Mahmoud Reza Ashrafi, Seyed Ahmad Hosseini, Gholam Reza Zamani, Mahmoud Mohammadi, Alireza Tavassoli, Reza Shervin Badv, Morteza Heidari, Parviz Karimi, Reza Azizi Malamiri
To evaluate the efficacy, safety, and tolerability of a classic 4:1 ketogenic diet using a formula-based powder in infants and children with refractory seizures who are reluctant to eat homemade foods. We conducted an open label trial and administered a ketogenic diet using formula-based power (Ketocal(®)). Twenty-seven infants and children aged between 12 months and 5 years were enrolled who had refractory seizures and were reluctant to eat homemade foods. Of 27 children, 5 were lost to follow-up and 22 were remained at the end of the study...
December 7, 2016: Acta Neurologica Belgica
https://www.readbyqxmd.com/read/27928411/visual-impairment-due-to-lissencephaly
#15
V E Marqués-Fernández, H Sánchez-Tocino, M T Escudero-Caro, R Cancho-Candela, M García-Zamora
Lissencephaly is a rare disorder due to abnormal neural migration, causing neurological impairment and clinically characterised by mental retardation and epilepsy. Any disturbance of the visual pathway can cause loss of vision. The authors describe a case of a 6-year-old boy referred to the ophthalmologist presenting poor bilateral vision. This child had no other known medical conditions, and neurological examination was completely normal. Only when a magnetic resonance imaging was made that a lissencephaly-pachygyria with band heterotopia mostly occipital was noted...
October 2016: Neuro-ophthalmology
https://www.readbyqxmd.com/read/27900360/scn8a-mutation-in-a-child-presenting-with-seizures-and-developmental-delays
#16
Janet Malcolmson, Robert Kleyner, David Tegay, Whit Adams, Kenneth Ward, Justine Coppinger, Lesa Nelson, Miriam H Meisler, Kai Wang, Reid Robison, Gholson J Lyon
The SCN8A gene encodes the sodium voltage-gated channel alpha subunit 8. Mutations in this gene have been associated with early infantile epileptic encephalopathy type 13. With the use of whole-exome sequencing, a de novo missense mutation in SCN8A was identified in a 4-yr-old female who initially exhibited symptoms of epilepsy at the age of 5 mo that progressed to a severe condition with very little movement, including being unable to sit or walk on her own.
November 2016: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/27899087/paradoxical-physiological-responses-to-propranolol-in-a-rett-syndrome-patient-a-case-report
#17
P J Santosh, L Bell, K Lievesley, J Singh, F Fiori
BACKGROUND: Rett Syndrome (RTT), caused by a loss-of-function in the epigenetic modulator: X-linked methyl-CpG binding protein 2 (MeCP2), is a pervasive neurological disorder characterized by compromised brain functions, anxiety, severe mental retardation, language and learning disabilities, repetitive stereotyped hand movements and developmental regression. An imbalance in the sympathetic and the parasympathetic nervous system (dysautonomia) and the resulting autonomic storms is a frequent occurrence in patients with RTT...
November 29, 2016: BMC Pediatrics
https://www.readbyqxmd.com/read/27889818/somatosensory-reflex-seizures-in-a-child-with-epilepsy-related-to-novel-scn1a-mutation
#18
Pinar Arican, Nihal Olgac Dundar, Dilek Cavusoglu, Taha Resid Ozdemır, Pinar Gencpinar
INTRODUCTION: Mutations in SCN1A have been reported in patients with different types of epilepsy, including generalized epilepsy with febrile seizures plus, severe myoclonic epilepsy in infancy, malignant migrating partial seizures in infancy, and other infantile epileptic encephalopathies. CASE REPORT: We report a case of a 10-month-old girl presented with reflex epileptic seizures provoked by somatosensory stimuli with a novel de novo mutation of SCN1A gene. She was observed to have seizures with eye deviation, unresponsiveness provoked by somatosensory stimuli of the face...
November 26, 2016: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/27878438/interdependence-of-clinical-factors-predicting-cognition-in-children-with-tuberous-sclerosis-complex
#19
I E Overwater, B J H Verhaar, H F Lingsma, G C B Bindels-de Heus, A M W van den Ouweland, M Nellist, L W Ten Hoopen, Y Elgersma, H A Moll, M C Y de Wit
Cognitive development in patients with tuberous sclerosis complex is highly variable. Predictors in the infant years would be valuable to counsel parents and to support development. The aim of this study was to confirm factors that have been reported to be independently correlated with cognitive development. 102 patients included in this study were treated at the ENCORE-TSC expertise center of the Erasmus Medical Center-Sophia Children's Hospital. Data from the first 24 months of life were used, including details on epilepsy, motor development and mutation status...
November 22, 2016: Journal of Neurology
https://www.readbyqxmd.com/read/27875769/status-epilepticus-in-pregnant-women-with-epilepsy-after-valproate-adjustment-a-case-series
#20
Mengqian Wu, Nanya Hao, Bo Yan, Xiaosa Chi, Dong Zhou
PURPOSE: Valproate is an effective wide-spectrum anti-epileptic drug that is also known to be teratogenic. Its administration in epileptic women remains controversial. This report aims to draw more attention to valproate adjustment before and during pregnancy. METHODS: We collected medical records of pregnant women with epilepsy at West China Hospital in Chengdu, China who developed status epilepticus during pregnancy after valproate withdrawal or reduction in dose from January 2013 to July 2015...
December 2016: Seizure: the Journal of the British Epilepsy Association
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