Genetic Testing and Hospital Length of Stay in Neonates With Epilepsy

Akbari, Heba; Sunderraj, Ashwin; Sanchez-Pinto, L. Nelson; Berg, Anne T.; George, Alfred L.; Pardo, Andrea C.

doi:10.1016/j.pediatrneurol.2022.05.011

Cited by 3 publications

(6 citation statements)

References 27 publications

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“…A total of 170 articles were included in the final review (alphabetically ordered based on author in Supplementary Table 2). 1,2,7–50,55,56,68–189 A PRISMA flow diagram is presented to track the process and number of studies included and excluded (Figure 1).…”

Section: Resultsmentioning

confidence: 99%

“…North American studies discussed post‐genetic testing in NICUs and PICUs for the identification of at‐risk family members and clinical follow‐up 8,44,131,147 . Some European studies focused strictly on post‐test genetic counselling.…”

Section: Resultsmentioning

confidence: 99%

“…Genetic counselling was recommended during the consent process 160 when utilizing targeted epilepsy multi‐gene panels and exome studies in the clinical management of neonatal epilepsies 131 …”

Section: Resultsmentioning

confidence: 99%

“…Post-test genetic counselling was considered helpful to guide caregivers to make future decisions (i.e., future pregnancy, recurrence risk) and ongoing care after the diagnosis of the patient has been established. 8,44,128,131,147 Throughout both pre-test and post-test processes, studies advocated for the importance of genetic counselling in providing emotional support for caregivers. 12,28,44,120,128,144 As caregivers with infants in the NICU considering rapid GWS show moderate-severe anxiety and decisional conflict at the pre-test stage, incorporating tools such as the SURE scale and Generalized Anxiety Disorder (GAD-7) scale can help identify at-risk individuals.…”

Section: Discussionmentioning

confidence: 99%

“…93,108 North American studies discussed post-genetic testing in NICUs and PICUs for the identification of at-risk family members and clinical follow-up. 8,44,131,147 Some European studies focused strictly on posttest genetic counselling. In Turkey for example, genetic counselling was recommended after recognition and diagnosis of the disorder.…”

Section: Geography and Ethnicitymentioning

confidence: 99%

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Genetic counselling considerations with genetic/genomic testing in Neonatal and Pediatric Intensive Care Units: A scoping review

Kim,

Pistawka,

Langlois

et al. 2023

Clinical Genetics

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Genetic and genomic technologies can effectively diagnose numerous genetic disorders. Patients benefit when genetic counselling accompanies genetic testing and international guidelines recommend pre‐ and post‐test genetic counselling with genome‐wide sequencing. However, there is a gap in knowledge regarding the unique genetic counselling considerations with different types of genetic testing in the Neonatal Intensive Care Unit (NICU) and the Pediatric Intensive Care Unit (PICU). This scoping review was conducted to identify the gaps in care with respect to genetic counselling for infants/pediatric patients undergoing genetic and genomic testing in NICUs and PICUs and understand areas in need of improvement in order to optimize clinical care for patients, caregivers, and healthcare providers. Five databases (MEDLINE [Ovid], Embase [Ovid], PsycINFO [Ebsco], CENTRAL [Ovid], and CINHAL [Ebsco]) and grey literature were searched. A total of 170 studies were included and used for data extraction and analysis. This scoping review includes descriptive analysis, followed by a narrative account of the extracted data. Results were divided into three groups: pre‐test, post‐test, and comprehensive (both pre‐ and post‐test) genetic counselling considerations based on indication for testing. More studies were conducted in the NICU than the PICU. Comprehensive genetic counselling was discussed in only 31% of all the included studies demonstrating the need for both pre‐test and post‐test genetic counselling for different clinical indications in addition to the need to account for different cultural aspects based on ethnicity and geographic factors.

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Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Geography and Ethnicitymentioning

confidence: 99%

See 3 more Smart Citations

Genetic counselling considerations with genetic/genomic testing in Neonatal and Pediatric Intensive Care Units: A scoping review

Kim,

Pistawka,

Langlois

et al. 2023

Clinical Genetics

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Next generation of free? Points to consider when navigating sponsored genetic testing

Bartels,

Afonso,

Brown

et al. 2023

J Med Genet

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Genetics has been integrated into patient care across many subspecialties. However, genetic and genomic testing (GT) remain expensive with disparities in access both within Canada and internationally. It is, therefore, not surprising that sponsored GT has emerged as one alternative. Sponsored GT, for the purpose of this document, refers to clinical-grade GT partially or fully subsidised by industry. In return, industry sponsors—usually pharmaceutical or biotechnology companies—may have access to patients’ genetic data, practitioner information, DNA and/or other information. The availability of sponsored GT options in the Canadian healthcare landscape has appeared to simplify patient and practitioner access to GT, but the potential ethical and legal considerations, as well as the nuances of a publicly funded healthcare system, must also be considered. This document offers preliminary guidance for Canadian healthcare practitioners encountering sponsored GT in practice. Further research and dialogue is urgently needed to explore this issue to provide fulsome considerations that one must be aware of when availing such options.

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Acute symptomatic seizures in newborns: a narrative review

Spagnoli,

Pisani

2024

Acta Epileptologica

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Acute symptomatic seizures are the main sign of neurological dysfunction in newborns. This is linked to the unique characteristics of the neonatal brain, making it hyperexcitable compared to older ages, and to the common occurrence of some forms of acquired brain injury, namely hypoxic-ischemic encephalopathy. In this narrative review we will provide an overview of neonatal seizures definition, their main underlying etiologies, diagnostic work-up and differential diagnoses, and will discuss about therapeutic options and prognostic outlook. The latest publications from the ILAE Task Force on Neonatal Seizures will be presented and discussed. Of note, they highlight the current lack of robust evidence in this field of clinical neurology. We will also report on specificities pertaining to low-and-middle income countries in terms of incidence, main etiologies and diagnosis. The possibilities offered by telemedicine and automated seizures detection will also be summarized in order to provide a framework for future directions in seizures diagnosis and management with a global perspective. Many challenges and opportunities for improving identification, monitoring and treatment of acute symptomatic seizures in newborns exist. All current caveats potentially represent different lines of research with the aim to provide better care and reach a deeper understanding of this important topic of neonatal neurology.

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Genetic Testing and Hospital Length of Stay in Neonates With Epilepsy

Cited by 3 publications

References 27 publications

Genetic counselling considerations with genetic/genomic testing in Neonatal and Pediatric Intensive Care Units: A scoping review

Genetic counselling considerations with genetic/genomic testing in Neonatal and Pediatric Intensive Care Units: A scoping review

Next generation of free? Points to consider when navigating sponsored genetic testing

Acute symptomatic seizures in newborns: a narrative review

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