Hope in the uncertainties and certainty for parents of children with rare neurological disorders. Part I (of 3): Uncertainty

Palmer, Elizabeth E.; Sachdev, Rani; Beavis, Erin; Macintosh, Rebecca; Marne, Fleur A Le; Nevin, S.; Bye, Ann; Nunn, Kenneth

doi:10.1111/jpc.16165

Cited by 7 publications

(6 citation statements)

References 42 publications

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Section: Discussionmentioning

confidence: 99%

“…[40] Palmer et al believe that advanced therapies, such as genome sequencing technology and gene therapy, provide unprecedented precision medical opportunities for parents of children with severe but rare neurological diseases. [41] Smith et al strongly recommended genetic testing for all patients with unexplained epilepsy. [42] In the # 5 "copy number variation" cluster, it was discussed that partial deoxyribonucleic acid fragment variation is the genetic cause of epilepsy or epilepsy-comorbid autism.…”

Section: Gene Detection and Mutationmentioning

confidence: 99%

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Trends and hotspots in gene research of epilepsy in children: A review and bibliometric analysis from 2010 to 2022

et al. 2023

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Background: About 70% to 80% of epilepsy cases are related to genetic factors. Genetic research has revealed the genetic etiology and molecular mechanisms of childhood epilepsy, which has increased our understanding of childhood epilepsy. Methods: We searched the core collection of Web of Science for relevant papers on genetic research on childhood epilepsy published since 2010 on November 30, 2022. In this study, original articles and reviews in English were included. Using CiteSpace and VOSviewer online tools, we conducted a bibliometric analysis of the countries, institutions, journals, co-cited journals, co-cited references, keywords, and research hotspots. Results: We evaluated 2500 literatures on epilepsy genomics in children. Among them, 96 countries published relevant articles, with the United States ranking the most. A total of 389 institutions have contributed relevant publications, and the University of Melbourne has published the most papers. Epilepsy journals were the most commonly cited. The references of papers were clustered into 9 categories: gene testing, epileptic encephalopathy, Dravet syndrome, focal cortical dysplasia, Rolandic epilepsy, copy number variation, ketogenic diet, monogenic epilepsy, and ptt2 mutation. Burst keywords represent the frontier of research, including developmental and epileptic encephalopathy (2021–2022), neurodevelopmental disorders (2020–2022), gene testing (2020–2022), and whole-exome sequencing (2019–2022). Conclusion: This study conducted a systematic and objective bibliometric analysis of the literature on epilepsy gene research in children. More importantly, it revealed the hot spot, frontier, and future developmental trends in the field. It will help pediatricians and geneticists further understand the dynamic evolution of genetic research on pediatric epilepsy.

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Section: Discussionmentioning

confidence: 99%

Section: Gene Detection and Mutationmentioning

confidence: 99%

Trends and hotspots in gene research of epilepsy in children: A review and bibliometric analysis from 2010 to 2022

et al. 2023

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“…In our last paper, 12 we looked at the range and types of uncertainty and, with them, some of the different types of certainty (see Fig. 1).…”

Section: The Increasingly Certain Journey Of Parental Carementioning

confidence: 99%

“…This is the sort of hopefulness that clinicians need to have and to offer as they share the journey. 10,11 In our last paper, 12 we looked at the range and types of uncertainty and, with them, some of the different types of certainty (see Fig. 1).…”

Section: The Increasingly Certain Journey Of Parental Carementioning

confidence: 99%

Hope in the uncertainties and certainty for parents of children with rare neurological disorders: Part 2 (of 3): Certainty

Nevin

Beavis

Macintosh

et al. 2022

J Paediatrics Child Health

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This is the second of a three‐part series that explores different aspects of uncertainty, certainty and hope in the context of providing clinical care for children with rare and life‐limiting neurological disorders. When caring for families impacted by an overwhelming complex disorder in a child, complicated by threatening uncertainties and potentially more threatening certainties, clinicians utilise skills drawn from differing fields to make the load of information, and the emotional impact more manageable. The first article in this series addressed how clinicians might manage the ‘accumulation of uncertainties’ and to provide compassionate care not only to their patients, and their families, but also to themselves. This second paper delves into the less helpful aspects of ‘certainty’, including the associated losses and griefs endured by parents responding to threatening fears associated with their child's condition. In the extreme, disconnection and psychological isolation borne by parents can lead to a sense of hopelessness and desperation. Facing unwelcome certainties – clinicians and parents together – forms the basis of future trust and hope. Clinicians who share the field of trust with families and show commitment to helping parents, even when cure remains elusive, build a sense of hope. This is the sort of hopefulness that clinicians need to have and to offer as they share the journey with families. In this series, we seek to harness a shared approach to face unwelcome certainties and to kindle a sense of hope that is both credible and meaningful to the parents, family and clinician.

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“…We have seen in the first two articles 1,2 in this three-part series that uncertainty and certainty around life-limiting, deeply distressing and relationship-impairing paediatric neurological disorders can provide formidable challenges to personal hopefulness for parents, families as well as the affected child. This hopelessness can consolidate into an active despair and bleed into the clinical team's capacity to help professionally and hope personally.…”

Section: A Credible and Meaningful Hopefulness In The Irreducibly Tragicmentioning

confidence: 99%

Hope in the uncertainties and certainty for parents of children with rare neurological disorders: Part 3 (of 3): Hope

Bye

Marne

Beavis

et al. 2022

J Paediatrics Child Health

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This is the third article of a three‐part series and addresses how clinicians provide hopefulness meaningfully to families coping with life‐limiting and quality of life impairing neurological conditions. The first two articles addressed the enormous challenges faced by carers and also explored the struggles of clinicians trying to provide relief and comfort. Can these families, and those helping clinically, legitimately hope? It is expectation that consolidates desire into a substantial hope that may motivate finding a way forward. Hope must be realistic and directed to something in particular and in someone in particular. Hope and despair are not monolithic but often travel together for both children, families and clinicians. Hope is not denial but a belief that there are positive possibilities. Finding what can be helpfully hoped for and what must be realistically despaired of, is the discerning struggle. Clinicians aim to change what we can and accept what we cannot. Acceptance and grief are arrived at slowly for carers and families. Similarly, clinicians struggle with the hopes of bringing meaningful solace and are supported by trusted colleagues who have shared the same experience. Clinicians strive to respond appropriately and effectively in a dynamic process based on trust, providing presence and compassion when cure is not possible. Clinicians help find the small doable things that foster hope and lessen isolation and abandonment, mindful of the limits of their medical expertise. Surprisingly these modest hopes and faltering acceptances often provide a different form of strength and comfort to sustain a family.

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Hope in the uncertainties and certainty for parents of children with rare neurological disorders. Part I (of 3): Uncertainty

Cited by 7 publications

References 42 publications

Trends and hotspots in gene research of epilepsy in children: A review and bibliometric analysis from 2010 to 2022

Trends and hotspots in gene research of epilepsy in children: A review and bibliometric analysis from 2010 to 2022

Hope in the uncertainties and certainty for parents of children with rare neurological disorders: Part 2 (of 3): Certainty

Hope in the uncertainties and certainty for parents of children with rare neurological disorders: Part 3 (of 3): Hope

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