ORCID Profile
0000-0003-1679-0142
Current Organisation
UNSW Sydney
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Publisher: Elsevier BV
Date: 08-2021
Publisher: Elsevier BV
Date: 11-2020
Publisher: Wiley
Date: 21-07-2022
DOI: 10.1111/DMCN.14971
Abstract: To investigate the psychosocial impact of genetic testing for childhood‐onset developmental and epileptic encephalopathies (DEEs) in order to identify parents’ information and support needs. In this mixed‐methods study, we conducted in‐depth semi‐structured interviews with parents ( n =25) of children, recruited from the Sydney Children’s Hospital Network, Australia, who had received genetic testing. Thematic saturation was reached interviews were transcribed, deidentified, line‐by‐line coded, and thematically analysed by three coders, using an inductive approach. We also quantitatively assessed the impact of genetic testing on quality of life outcomes and parents’ satisfaction with genetics services. Qualitative and quantitative analysis revealed that compassionate genetic counselling and consistent clinician–parent partnerships facilitated parents’ capacity to process their child’s genetic diagnosis. Parents believed that a sparsity of diagnosis‐specific information to contextualize their child’s genetic DEE, combined with limited psychosocial resources to support coping with ongoing prognostic uncertainty, contributed to chronic psychological stress. Access to diagnosis‐specific resources and peer support was considered necessary to support parents in communicating their child’s genetic DEE and to reduce social isolation. Integrated psychosocial resources, including tailored psychological supports, diagnosis‐specific information, and peer‐to‐peer supports, are priority areas to complement genetic services.
Publisher: Elsevier BV
Date: 08-2020
Publisher: Elsevier BV
Date: 03-2022
DOI: 10.1016/J.GIM.2021.11.013
Abstract: Genetic testing is frequently conducted on people with intellectual disability. This systematic literature review sought to assess what research has been conducted with people with intellectual disability to investigate their opinions and experiences of genetic counselling and testing. A search of 5 online databases (from year of database creation to 2021) yielded 1162 articles. Seven articles met the inclusion criteria. We assessed the quality, accessibility, and inclusivity of each study and extracted the data. Deductive content analysis was performed. Most study participants showed both the desire and the capability to learn more about genetic conditions and genetic tests. Participants expressed a wide variety of opinions about genetic tests, similar to the range of opinions of the general population. All studies were small and were from a limited number of countries, and analysis showed limited evidence of inclusivity or accessibility. This review highlights major gaps in the understanding of the opinions, experiences, and preferences of people with intellectual disability regarding genetic counselling and testing. There is urgent need for research to codesign a more inclusive genomic model of care to address this failure in health care accessibility and equity.
Publisher: BMJ
Date: 10-2022
DOI: 10.1136/BMJOPEN-2022-063249
Abstract: Developmental and epileptic encephalopathies (DEEs) are rare epilepsy conditions that collectively impact 1 in 2000 children. They are highly genetically heterogeneous, resulting in significant barriers to accurate and adequate information for caregivers. This can lead to increased distress and dissatisfaction with the healthcare system. To address this gap, we developed ‘GenE Compass’ to provide caregivers with the highest-quality possible, understandable and relevant information in response to specific questions about their child’s DEE. Using a mixed-method design, we will now pilot GenE Compass to evaluate the acceptability to caregivers and clinicians, feasibility and impact to caregivers. We will recruit 88 caregivers (estimated final s le of 50 at follow-up) who have a child under 18 years of age with a suspected or confirmed DEE diagnosis. Following consent and a baseline questionnaire (questionnaire 1 (Q1)), participants will be able to submit questions to GenE Compass over a 3-month period. After 3 months, participants will complete a follow-up questionnaire (Q2) and an optional telephone interview to answer the research questions. Primary outcomes are acceptability of GenE Compass and feasibility of delivering the intervention (eg, cost of the intervention, number of questions submitted and time taken to respond to questions). Secondary outcomes include the impact of GenE Compass on caregivers’ quality of life, information searching behaviours, perceptions of their child’s illness and activation. The study protocol (V.2, dated 16 September 2021) has been approved by the Sydney Children’s Hospitals Network Human Research Ethics Committee (ETH11277). The results will be disseminated in peer-reviewed journals and at scientific conferences. A lay summary will be disseminated to all participants. ACTRN12621001544864.
Publisher: Georg Thieme Verlag KG
Date: 15-12-2020
Abstract: Genomics is rapidly being integrated into the routine care of children and families living with renal disease, principally as a diagnostic tool but also to direct therapy, identify at-risk relatives, and facilitate family planning. However, despite significant progress in understanding the genetic heterogeneity of inherited renal disease, the impact of genetic testing on parents and families of affected children is not well understood. This study aimed to investigate the experiences of families undergoing genetic testing, the psychosocial impact of receiving a genetic test result, and parent information and support needs. In-depth semistructured interviews were conducted with 26 parents of pediatric patients ( years of age) who had undergone genomic investigation for a suspected genetic renal disease at two tertiary pediatric nephrology services. Interviews were transcribed verbatim, coded, using NVivo software, and thematic analysis was undertaken. Key themes included emotional adjustment to a genetic diagnosis, the importance of parent-provider relationships, empowerment through social connection, and the value of family-centered care. Results highlighted the wide-ranging psychosocial impact of genetic testing on parents, as well as the importance of patient-support networks in enabling parents/families to cope and adapt. Targeted approaches to enhance communication of genetic information and the development of tailored resources to address parents' genetics and health service needs may lead to more satisfactory experiences of genetic testing.
Publisher: Research Square Platform LLC
Date: 15-03-2023
DOI: 10.21203/RS.3.RS-2282768/V1
Abstract: Background : Childhood dementias are a group of over 70 rare and ultra-rare paediatric conditions clinically characterised by enduring global decline in central nervous system function, associated with a progressive loss of developmentally acquired skills, quality of life and shortened life expectancy. Traditional research, service development and advocacy efforts have been fragmented due to a focus on in idual disorders, or groups classified by specific mechanisms or molecular pathogenesis. There are significant knowledge and clinician skill gaps regarding the shared psychosocial impacts of childhood dementia conditions. This systematic review integrates the existing international evidence of the collective psychosocial experiences of parents of children living with dementia. Methods : We used the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. We systematically searched four databases to identify original, peer-reviewed research reporting on the psychosocial impacts of childhood dementia, from the parent perspective. We synthesised the data into three thematic categories: parents’ healthcare experiences, psychosocial impacts, and information and support needs. Results : Nineteen articles met review criteria, representing 1856 parents. Parents highlighted extensive difficulties connecting with an engaged clinical team and navigating their child’s rare, life-limiting, and progressive condition. Psychosocial challenges were manifold and encompassed economic, social, and psychological implications. Access to coordinated healthcare and community-based psychosocial supports was associated with improved parent coping, psychological resilience and reduced psychological isolation. Analysis identified a critical need to prioritize access to integrated family-centred psychosocial supports throughout distinct stages of their child’s condition trajectory. Conclusion : This review will encourage and guide the development of evidence-based and integrated psychosocial resourcesto optimise quality-of-life outcomes for of children with dementia and their families.
Publisher: Springer Science and Business Media LLC
Date: 25-08-2017
Publisher: Elsevier BV
Date: 03-2022
DOI: 10.1016/J.EJPN.2022.01.022
Abstract: Developmental and epileptic encephalopathies (DEEs) are chronic and life-threatening conditions, frequently with a genetic basis and infantile-onset. Caregivers often experience enduring distress adapting to their child's diagnosis and report a deficit of accessible psychological supports. We aimed to pilot a novel, empirically-driven suite of audio-visual positive psychology resources tailored for caregivers of children with a DEE, called 'Finding a Way'. We recruited caregivers through two paediatric hospital databases, and we also shared an invitation to the online questionnaire via genetic epilepsy advocacy organisations. The online questionnaire included a combination of validated, purpose-designed, and open-ended questions to assess the acceptability, relevance, and emotional impact of the resources among caregivers. 167 caregivers from 18 countries reviewed the resources, with 56 caregivers completing over 85% of the evaluation. Caregivers rated the resources as highly acceptable and relevant to their experiences. In both the quantitative and qualitative data, caregivers reported that the resources normalised their emotional experiences and provided helpful suggestions about managing their personal relationships, seeking support and accepting help from others. Frequently reported emotional responses after viewing the resources included feeling "comforted", "hopeful", "connected" and "reassured". Suggestions for improvement included, expanding the suite of resources and embedding the resources with links to specialised psychological services. 'Finding a Way' is a novel codesigned suite of audio-visual positive psychology resources tailored for caregivers of children with DEEs. Our results suggest that 'Finding a Way' is acceptable to caregivers and may contribute towards enhanced emotional adaptation and coping.
Publisher: Wiley
Date: 07-09-2022
DOI: 10.1111/JPC.16202
Abstract: 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.
Publisher: Wiley
Date: 05-09-2022
DOI: 10.1111/JPC.16187
Abstract: 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.
Publisher: Wiley
Date: 07-09-2022
DOI: 10.1111/JPC.16165
Abstract: This is the first of three articles exploring the aspects of clinical care for children with rare neurological disorders including uncertainties old and new. The disruptive technologies of genomic sequencing and advanced therapeutics such as gene‐based therapies offer parents of children with severe but rare neurological conditions for the first‐time unprecedented opportunities for ‘precision medicine’. At the same time, the realities of limited genomic diagnostic yields and not infrequent detection of variants of uncertain significance, lack of natural history study data and management guidelines for in idually rare neurogenetic conditions, means that high pre‐genomic test expectations are all too often replaced by an accumulation of new uncertainties. This can add to the chronic traumatic stress experienced by many families but may also have under‐recognised impacts for their clinicians, contributing to ‘burn‐out’ and attendant negative psychosocial impacts. This first article aims to address how clinicians might manage the accumulation of uncertainties to be more helpful to patients and their families. Moreover, it seeks to address how clinicians can move forward providing compassionate care to their patients and a little more consideration for themselves.
Publisher: Springer Science and Business Media LLC
Date: 07-09-2023
No related grants have been discovered for Dr Suzanne Nevin.