The clinical utility of an <i>SCN1A</i> genetic diagnosis in infantile‐onset epilepsy

Brunklaus, Andreas; Dorris, Liam; Ellis, Rachael; Reavey, Eleanor; Lee, Elizabeth; Forbes, G.H.; Appleton, Richard; Cross, J. Helen; Ferrie, Colin D.; Hughes, Imelda; Jollands, Alice; King, Mary D.; Livingston, John H.; Lynch, Bryan; Philip, Sunny; Scheffer, Ingrid E.; Williams, Ruth; Zuberi, Sameer M.

doi:10.1111/dmcn.12030

Cited by 64 publications

(63 citation statements)

References 22 publications

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“…There are limited data to support this for conditions such as Dravet syndrome and mostly this is a standard practice approach. 31 Such approaches to care are not without risk; therefore, careful observation of patients would be important. Consequently, it is recommended that whenever possible these infants are managed initially with frequent assessment for efficacy and AED tolerance.…”

Section: Discussion Of the Recommendationsmentioning

confidence: 99%

Summary of recommendations for the management of infantile seizures: TaskForceReport for theILAE Commission ofPediatrics

et al. 2015

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Summary Evidence‐based guidelines, or recommendations, for the management of infants with seizures are lacking. A Task Force of the Commission of Pediatrics developed a consensus document addressing diagnostic markers, management interventions, and outcome measures for infants with seizures. Levels of evidence to support recommendations and statements were assessed using the American Academy of Neurology Guidelines and the Grading of Recommendations Assessment, Development and Evaluation (GRADE) system. The report contains recommendations for different levels of care, noting which would be regarded as standard care, compared to optimal care, or “state of the art” interventions. The incidence of epilepsy in the infantile period is the highest of all age groups (strong evidence), with epileptic spasms the largest single subgroup and, in the first 2 years of life, febrile seizures are the most commonly occurring seizures. Acute intervention at the time of a febrile seizure does not alter the risk for subsequent epilepsy (class 1 evidence). The use of antipyretic agents does not alter the recurrence rate (class 1 evidence), and there is no evidence to support initiation of regular antiepileptic drugs for simple febrile seizures (class 1 evidence). Infants with abnormal movements whose routine electroencephalography (EEG) study is not diagnostic, would benefit from video‐EEG analysis, or home video to capture events (expert opinion, level U recommendation). Neuroimaging is recommended at all levels of care for infants presenting with epilepsy, with magnetic resonance imaging (MRI) recommended as the standard investigation at tertiary level (level A recommendation). Genetic screening should not be undertaken at primary or secondary level care (expert opinion). Standard care should permit genetic counseling by trained personal at all levels of care (expert opinion). Genetic evaluation for Dravet syndrome, and other infantile‐onset epileptic encephalopathies, should be available in tertiary care (weak evidence, level C recommendation). Patients should be referred from primary or secondary to tertiary level care after failure of one antiepileptic drug (standard care) and optimal care equates to referral of all infants after presentation with a seizure (expert opinion, level U evidence). Infants with recurrent seizures warrant urgent assessment for initiation of antiepileptic drugs (expert opinion, level U recommendation). Infantile encephalopathies should have rapid introduction and increment of antiepileptic drug dosage (expert opinion, level U recommendation). There is no high level evidence to support any particular current agents for use in infants with seizures. For focal seizures, levetiracetam is effective (strong evidence); for generalized seizures, weak evidence supports levetiracetam, valproate, lamotrigine, topiramate, and clobazam; for Dravet syndrome, strong evidence supports that stiripentol is effective (in combination with valproate and clobazam), whereas weak evidence supports that topiramate, zonisamide,...

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Section: Discussion Of the Recommendationsmentioning

confidence: 99%

Summary of recommendations for the management of infantile seizures: TaskForceReport for theILAE Commission ofPediatrics

et al. 2015

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“…For many years previously, not having a confirmed (genetic) diagnosis in Dravet syndrome also added to significant caregiver anxiety [23]. However, to our knowledge, no research has yet been conducted that would systematically identify the most important caregiver domains that are impacted by caring for a child with epilepsy in general, or DS in particular.…”

Section: Identifying Burden Domainsmentioning

confidence: 99%

The humanistic and economic burden of Dravet syndrome on caregivers and families: Implications for future research

Jensen

Brunklaus

Dorris

et al. 2017

Epilepsy & Behavior

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We reviewed the current literature with respect to the humanistic and financial burdens of Dravet Syndrome (DS) on the caregivers of children with DS, in order to (1) identify key unanswered questions or gaps in knowledge that need to be addressed and then, based on these knowledge gaps, (2) propose a research agenda for the scientific community to address in the coming decade. The findings support the conclusion that caring for a child with DS is associated with significant humanistic burden and direct costs. However, due in part to the paucity of studies, as well as the lack of measures of specific burden domains, there remains much that is not known regarding the burden of caregiving for children with DS. To address the significant knowledge gaps in this area, research is needed that will: (1) identify the specific domains of caregivers' lives that are impacted by caring for a child with DS; (2) identify or, if needed, develop measures of caregiving impact in this area; (3) identify the factors that influence DS caregiving burden; (4) develop and evaluate the efficacy of treatments for reducing the negative impact of DS and its comorbidities on DS caregivers; (5) quantify the direct medical costs associated with DS and DS comorbidities and identify the factors that influence these costs; and (6) quantify and fully explore the indirect costs of DS. Research that addresses these goals will provide the empirical foundation needed for improving the quality of life of children with DS and their families.

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“…Benefits included changing treatment, better seizure control, and, if done early, better developmental outcomes. 49 A preliminary report examined the impact of early diagnosis and optimal treatment in children with Doose syndrome. 50 Children who initially received certain drugs that experts "feel" are contraindicated for this form of epilepsy did substantially worse in terms of seizure control and development than did children who initially received more optimal treatments.…”

Section: Patient-expressed Priorities Vs the Standard Approach: Do Wementioning

confidence: 99%

Priorities in pediatric epilepsy research

Berg¹,

Baca²,

Loddenkemper³

et al. 2013

Neurology

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The Priorities in Pediatric Epilepsy Research workshop was held in the spirit of patient-centered and patient-driven mandates for developing best practices in care, particularly for epilepsy beginning under age 3 years. The workshop brought together parents, representatives of voluntary advocacy organizations, physicians, allied health professionals, researchers, and administrators to identify priority areas for pediatric epilepsy care and research including implementation and testing of interventions designed to improve care processes and outcomes. Priorities highlighted were 1) patient outcomes, especially seizure control but also behavioral, academic, and social functioning; 2) early and accurate diagnosis and optimal treatment; 3) role and involvement of parents (communication and shared decision-making); and 4) integration of school and community organizations with epilepsy care delivery. Key factors influencing pediatric epilepsy care included the child's impairments and seizure presentation, parents, providers, the health care system, and community systems. Care was represented as a sequential process from initial onset of seizures to referral for comprehensive evaluation when needed. We considered an alternative model in which comprehensive care would be utilized from onset, proactively, rather than reactively after pharmacoresistance became obvious. Barriers, including limited levels of evidence about many aspects of diagnosis and management, access to care-particularly epilepsy specialty and behavioral health care-and implementation, were identified. Progress hinges on coordinated research efforts that systematically address gaps in knowledge and overcoming barriers to access and implementation. The stakes are considerable, and the potential benefits for reduced burden of refractory epilepsy and lifelong disabilities may be enormous.

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The clinical utility of an SCN1A genetic diagnosis in infantile‐onset epilepsy

Cited by 64 publications

References 22 publications

Summary of recommendations for the management of infantile seizures: TaskForceReport for theILAE Commission ofPediatrics

Summary of recommendations for the management of infantile seizures: TaskForceReport for theILAE Commission ofPediatrics

The humanistic and economic burden of Dravet syndrome on caregivers and families: Implications for future research

Priorities in pediatric epilepsy research

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