Literature DB >> 33924914

Dravet Syndrome-The Polish Family's Perspective Study.

Justyna Paprocka1, Anita Lewandowska2, Piotr Zieliński2, Bartłomiej Kurczab2, Ewa Emich-Widera1, Tomasz Mazurczak3.   

Abstract

AIM: The aim of the paper is to study the prevalence of Dravet Syndrome (DS) in the Polish population and indicate different factors other than seizures reducing the quality of life in such patients.
METHOD: A survey was conducted among caregivers of patients with DS by the members of the Polish support group of the Association for People with Severe Refractory Epilepsy DRAVET.PL. It included their experience of the diagnosis, seizures, and treatment-related adverse effects. The caregivers also completed the PedsQL survey, which showed the most important problems. The survey received 55 responses from caregivers of patients with DS (aged 2-25 years).
RESULTS: Prior to the diagnosis of DS, 85% of patients presented with status epilepticus lasting more than 30 min, and the frequency of seizures (mostly tonic-clonic or hemiconvulsions) ranged from 2 per week to hundreds per day. After the diagnosis of DS, patients remained on polytherapy (drugs recommended in DS). Before diagnosis, some of them had been on sodium channel blockers. Most patients experienced many adverse effects, including aggression and loss of appetite. The frequency of adverse effects was related to the number of drugs used in this therapy, which had an impact on the results of the PedsQL form, particularly in terms of the physical and social spheres. Intensive care unit stays due to severe status epilepticus also had an influence on the results of the PedsQL form.
CONCLUSIONS: Families must be counseled on non-pharmacologic strategies to reduce seizure risk, including avoidance of triggers that commonly induce seizures (including hyperthermia, flashing lights and patterns, sleep abnormalities). In addition to addressing seizures, holistic care for a patient with Dravet syndrome must involve a multidisciplinary team that includes specialists in physical, occupational and speech therapy, neuropsychology, social work.

Entities:  

Keywords:  Dravet syndrome; children; epilepsy; quality of life

Year:  2021        PMID: 33924914     DOI: 10.3390/jcm10091903

Source DB:  PubMed          Journal:  J Clin Med        ISSN: 2077-0383            Impact factor:   4.241


  38 in total

1.  De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy.

Authors:  L Claes; J Del-Favero; B Ceulemans; L Lagae; C Van Broeckhoven; P De Jonghe
Journal:  Am J Hum Genet       Date:  2001-05-15       Impact factor: 11.025

2.  Comorbidities and predictors of health-related quality of life in Dravet syndrome.

Authors:  Andreas Brunklaus; Liam Dorris; Sameer M Zuberi
Journal:  Epilepsia       Date:  2011-06-10       Impact factor: 5.864

3.  Optimizing the Diagnosis and Management of Dravet Syndrome: Recommendations From a North American Consensus Panel.

Authors:  Elaine C Wirrell; Linda Laux; Elizabeth Donner; Nathalie Jette; Kelly Knupp; Mary Anne Meskis; Ian Miller; Joseph Sullivan; Michelle Welborn; Anne T Berg
Journal:  Pediatr Neurol       Date:  2017-02-04       Impact factor: 3.372

4.  Prolonged epileptic seizures in primates. Ischemic cell change and its relation to ictal physiological events.

Authors:  B S Meldrum; J B Brierley
Journal:  Arch Neurol       Date:  1973-01

5.  Perception of impact of Dravet syndrome on children and caregivers in multiple countries: looking beyond seizures.

Authors:  Rima Nabbout; Stephane Auvin; Catherine Chiron; Elizabeth Thiele; Helen Cross; Ingrid E Scheffer; Amy L Schneider; Renzo Guerrini; Nicola Williamson
Journal:  Dev Med Child Neurol       Date:  2019-03-04       Impact factor: 5.449

6.  Clinical and genetic factors predicting Dravet syndrome in infants with SCN1A mutations.

Authors:  Valentina Cetica; Sara Chiari; Davide Mei; Elena Parrini; Laura Grisotto; Carla Marini; Daniela Pucatti; Annarita Ferrari; Federico Sicca; Nicola Specchio; Marina Trivisano; Domenica Battaglia; Ilaria Contaldo; Nelia Zamponi; Cristina Petrelli; Tiziana Granata; Francesca Ragona; Giuliano Avanzini; Renzo Guerrini
Journal:  Neurology       Date:  2017-02-15       Impact factor: 9.910

7.  Impact of sleep disorders on the risk of seizure recurrence in juvenile myoclonic epilepsy.

Authors:  Laura Buratti; Alice Natanti; Giovanna Viticchi; Lorenzo Falsetti; Simona Lattanzi; Alessandra Pulcini; Cristina Petrelli; Leandro Provinciali; Mauro Silvestrini
Journal:  Epilepsy Behav       Date:  2018-01-20       Impact factor: 2.937

8.  Sleep problems in Dravet syndrome: a modifiable comorbidity.

Authors:  Shane H Licheni; Jacinta M Mcmahon; Amy L Schneider; Margot J Davey; Ingrid E Scheffer
Journal:  Dev Med Child Neurol       Date:  2017-11-07       Impact factor: 5.449

Review 9.  SCN1A-related phenotypes: Epilepsy and beyond.

Authors:  Ingrid E Scheffer; Rima Nabbout
Journal:  Epilepsia       Date:  2019-12       Impact factor: 5.864

10.  Stiripentol efficacy and safety in Dravet syndrome: a 12-year observational study.

Authors:  Kenneth A Myers; Paul Lightfoot; Shekhar G Patil; J Helen Cross; Ingrid E Scheffer
Journal:  Dev Med Child Neurol       Date:  2018-02-23       Impact factor: 5.449

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  2 in total

Review 1.  Channelopathy of Dravet Syndrome and Potential Neuroprotective Effects of Cannabidiol.

Authors:  Changqing Xu; Yumin Zhang; David Gozal; Paul Carney
Journal:  J Cent Nerv Syst Dis       Date:  2021-12-20

2.  Case report: Dravet syndrome, feeding difficulties and gastrostomy.

Authors:  Lisa M Clayton; Edwina Williams; Simona Balestrini; Sanjay M Sisodiya
Journal:  Front Neurol       Date:  2022-09-13       Impact factor: 4.086

  2 in total

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