Breaking the silence: A qualitative exploration of parental perspectives of children with Goldenhar Syndrome
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PROVIDER: S-EPMC10839885 | biostudies-literature | 2024 Jan
REPOSITORIES: biostudies-literature
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Project description:IntroductionBeing responsive to end-users is essential to good care. Limited in-depth exploration of parental perspectives on care received by children over the course of serious illness has hindered the development of process measures to evaluate quality of care. Our objective was to identify the key process indicators prioritized by parents in the care of seriously ill young children and develop a framework to guide assessment of quality of care.MethodsThis qualitative study followed Charmaz's Constructivist Grounded Theory. In-depth semi-structured interviews were conducted with parents of young children with serious illness in Singapore. Participants were sampled across various healthcare settings, children's ages, and illness categories. Theoretical sampling and constant comparative analysis were used to generate initial, focused, and theoretical codes, which informed construction of a conceptual framework.Results31 parents participated from July 2021 to February 2022. Initial and focused coding generated 64 quality of care indicators describing key care practices, interactions, and procedures. Indicators were categorized under four themes: (1) efficient healthcare structures and standards, (2) professional qualities of healthcare workers, 3. supporting parent-caregivers, and 4. collaborative and holistic care. Theoretical coding led to the development of the "PaRental perspectives on qualIty of care for Children with sErious iLlnESSes (PRICELESS)" framework which summarizes elements contributing to the parental perception of quality of care.DiscussionThe identified process indicators will facilitate the development of standardised parent-reported measures for assessing service quality and benchmarking among providers. The framework provides overall guidance for conceiving quality improvement initiatives.
| S-EPMC10419205 | biostudies-literature
Project description:BackgroundIn Ghana, nearly one in four (25%) of the population are sickle cell disease carriers. Furthermore, 2% of all babies born (20 for every 1000 live births) has sickle cell disease. However, little is known about how parents negotiate the financial challenges facing parents of a child with sickle cell disease. This study explores the financial difficulties of parents and children living with sickle cell disease.MethodsThe study adopted a qualitative approach. Twenty-seven parents were purposively selected from a sickle cell clinic in Accra, Ghana. Data collection was through an in-depth, face-to-face interview, using an interview guide based on the research objectives, and analyzed using thematic analysis.ResultThe findings showed that parents faced multiple financial difficulties (both direct and indirect) as they met the direct cost of medications, routine laboratory investigations, and hospital admissions. The National Health Insurance scheme does not wholly cover these costs. Families also describe more indirect costs, such as those associated with maintaining their child's well-being alongside those connected to their caring responsibilities, including the impact of giving up work and reducing working hours. Findings highlight the most pressing challenge, including the lack of access to financial support and a more general lack of understanding of the difficulties they faced on the part of policymakers.ConclusionSupporting sickle cell parents' financial needs would improve their emotional and social well-being, enabling them to be more effective family carers.
| S-EPMC11556171 | biostudies-literature
Project description:Autosomal dominant facioscapulohumeral muscular dystrophy (FSHD) has an unusual pathogenic mechanism. FSHD is caused by deletion of a subset of D4Z4 macrosatellite repeat units in the subtelomere of chromosome 4q. Recent studies provide compelling evidence that a retrotransposed gene in the D4Z4 repeat, DUX4, is expressed in the human germline and then epigenetically silenced in somatic tissues. In FSHD, the combination of inefficient chromatin silencing of the D4Z4 repeat and polymorphisms on the FSHD-permissive alleles that stabilize the DUX4 mRNAs emanating from the repeat result in inappropriate DUX4 protein expression in muscle cells. FSHD is thereby the first example of a human disease caused by the inefficient repression of a retrogene in a macrosatellite repeat array.
| S-EPMC3092836 | biostudies-literature
Project description:BackgroundChildren with autism spectrum disorders are frequent visitors to high technology environments, and their needs may differ from those of their typically developed peers. Procedures in high technology environments can constitute a challenge for these children and their parents since the environment presents many challenges relevant to the child's impairments. This systematic review aimed to explore the experiences of children with autism spectrum disorders and their parents during procedures in a high technology environment.MethodsThe following sources were searched for this systematic review: Cochrane CENTRAL Trials, CINAHL, Dentistry and Oral Sciences Source, MEDLINE, PsycINFO, Scopus, and Web of Science Core Collection. The search terms included variants of the following concepts: (1) children with autism spectrum disorder and/or their parents and (2) anesthesia or radiographic departments. Publications were not limited by date or study design.ResultOut of 13,389 bibliographic records, nine studies were eligible for synthesis. After another search in October 2022, one additional study was eligible for synthesis.None of the studies reported children's experiences, and all ten reported their parents' experiences. Only one study was conducted in a radiographic context. Parents' experiences were both positive and negative and were categorized into two main categories: (1) challenges in a new environment and (2) health care professionals' approaches.ConclusionStudies describing children's experiences with procedures in high technology environments are lacking. The parents described a need for health care professionals to work in structured ways with their child and to be able to make suitable adaptations.Systematic review registrationThis systematic review was registered in advance on the Open Science Framework, https://doi.org/10.17605/OSF.IO/5TXWJ .
| S-EPMC10795331 | biostudies-literature
Project description:Children with Beckwith-Wiedemann Syndrome (BWS) and Isolated Hemihypertrophy (IHH) are at an increased risk for developing tumors. Tumor screening in this population is currently being reassessed by several groups and the effect on patients and patient-families has been argued both as a reason to screen and not to screen. Parental perspectives on this topic have never been systematically addressed for the BWS population. Here, we conducted a parent-based survey to evaluate knowledge and attitudes toward tumor screening in patients affected by BWS/IHH. A total of 261 surveys were completed. Overall, parents reported that screening decreased their worry and did not feel that screening increased worry or created a burden. This effect was observed across various demographic variables and other factors examined. Almost all significant differences observed could be attributed to parental knowledge of tumor risk. Parents who correctly identified their child's tumor risk were more likely to agree with stratified screening recommendations according to BWS type and risk, and were less likely to feel worried if recommendations were changed. These results highlight the need to educate families about their child's genetic type and tumor risk in order to facilitate an informed decision about tumor screening.
| S-EPMC5986606 | biostudies-literature
Project description:The purpose of this study was to understand Mexican women farmworkers' perceptions of workplace sexual harassment, its related factors and consequences, and potential points of intervention. This community-based participatory research study conducted focus groups with 20 women farmworkers in rural Washington. Four coders analyzed and gleaned interpretations from verbatim transcripts. Three main themes were identified. It was learned that women farmworkers: (1) frequently experienced both quid pro quo and hostile work environment forms of sexual harassment; (2) faced employment and health consequences due to the harassment; and (3) felt that both individual- and industry-level changes could prevent the harassment. Based on these findings, the authors identified three sets of risk factors contributing to workplace sexual harassment and recommend using a multilevel approach to prevent future harassment in the agriculture industry.
| S-EPMC5957069 | biostudies-literature
Project description:BACKGROUND:There is growing evidence that school children in the United States gain weight more rapidly during the summer than the school year, but few studies have explored the causes of this phenomenon. The goal of this study was to qualitatively explore potential determinants of accelerated summer weight gain by interviewing parents of school-age children. METHODS:Key informant interviews were conducted with parents of third and fourth grade students enrolled in a school-based physical activity intervention in three peri-urban communities in Eastern Massachusetts. A structured interview guide was developed to assess school year and summertime differences in child diet, physical activity, daily routine, and family rules. Interviews were recorded and transcribed verbatim. Transcripts were coded and major themes were identified using thematic analysis. RESULTS:Summer activities varied substantially by family. Many parents characterized summer as a time with less structure and more relaxed rules, particularly around bedtime and screen use. Parents perceived their child to be more physically active in the summer and reported few barriers to summertime physical activity. Parents reported increases in both positive (increased consumption of fruits and vegetables) and negative (increased consumption of "sweets" and "junk foods") dietary behaviors. They highlighted several stressors unique to summer, such as the high cost of camps and the need to coordinate childcare and manage children's time. CONCLUSIONS:Parents perceived their children to be more physically active in the summer and consume more fruits and vegetables than during the school year. However, they also perceived children to consume more energy-dense, nutrient poor foods, engage in more screen time, and have later bedtimes during the summer. These behaviors are important targets for summertime obesity prevention interventions. Large-scale quantitative studies are needed to determine whether these parent perceptions reflect meaningful risk factors for accelerated summer weight gain.
| S-EPMC6854753 | biostudies-literature
Project description:Background of studyCrack cocaine use in Ireland began to emerge as a significant problem in the early 2000s, with prevalence increasing from 2016 onwards. Services such as harm reduction, treatment/rehabilitation, primary healthcare and social services are available to crack cocaine users in Ireland. However, research addressing specific barriers to accessing these services remains limited. Internationally, while research on healthcare access barriers for crack cocaine users exists, it predominantly focuses on user perspectives. This paper uses a dual-perspective approach to investigate access challenges from both service user and service provider viewpoints, promoting a more patient-centred, holistic approach to service provision.MethodologyThe study is qualitative and used semi-structured interviews and a focus group to obtain study data. Levesque's conceptual framework for healthcare access underpins this study. Data were analysed using thematic analysis.ResultsThe study highlighted barriers to healthcare access such as the inadequacy of services to support those with dual diagnosis. However, an advancement has been made through the establishment of specialised dual diagnosis teams and community dual diagnosis services in Ireland. Stigma from health care providers further hindered people from seeking help, highlighting the significance of ongoing efforts in Ireland to address stigma. Systemic factors such as distrust in services, stringent requirements and insufficient knowledge of user needs hamper timely access to care, underlining the need for more adaptive responses.ConclusionThe study underlines the need for a tailored approach to enhancing access to health care for crack cocaine users in Ireland. Facilitating collaboration among health care providers, fostering partnerships with educational institutions/communities, and implementing policy changes are essential in creating a supportive environment that promotes help-seeking in Ireland.
| S-EPMC11583639 | biostudies-literature
Project description:ObjectiveOur aim was to explore general practitioners' (GPs) perceptions and experiences of discontinuing antidepressants.Study designA qualitative study using semistructured interviews was undertaken between July 2019 and March 2020. The interviews were transcribed and analysed using a thematic analysis framework.SettingGPs affiliated with a university education and research network for general practice in Ireland.ParticipantsA purposive sample of GPs (n=10).ResultsFive themes emerged: shared decision-making; personalised therapy; medication-tapering toolkit; health service factors and concerns around tapering. GPs described being less likely to engage in deprescribing for patients with long-term and/or recurrent depression, older patients and those with comorbidities due to fear of relapse. Access to evidence-based psychological therapies, guidelines, information on rates of relapse, patient leaflets on discontinuing antidepressants and reminder prompts on GP-prescribing software were suggested to optimise appropriate antidepressant discontinuation. There was some suggestion that patients may use antidepressants for longer when talk therapy is not available or taken up.ConclusionsGPs are largely confident in their role of managing mild-to-moderate depression and deprescribing antidepressants. This study provides an insight into factors that influence GPs' decisions to deprescribe antidepressants. More information on rates of relapse after discontinuation would be helpful to inform decision-making.
| S-EPMC8030471 | biostudies-literature
Project description:BackgroundWhile it is less common, young onset dementia manifests at a significantly younger age (< 65). Many people with young onset dementia are parents; however, little is known about impact of the condition on children and young adults. A qualitative thematic analysis was conducted to synthesise the literature on the perspectives of children and young adults with a parent living with young onset dementia.MethodsElectronic databases were searched in order to identify all peer-reviewed literature in relation to the perspectives of children and young adults with a parent living with young onset dementia. A thematic analysis was conducted on the relevant literature.ResultsThe electronic database search resulted in 15 full texts articles. Four main themes with related subthemes emerged from the thematic analysis. The four main themes were: changing family dynamics; psychological and physical strain; stigma and coping strategies.ConclusionThe current synthesis outlines the perspectives of children and young adults with a parent living with young onset dementia. There is a significant lack of research in this area which adds to the stereotypical view of dementia as an older person's disease. This can lead to children and young adults being impacted by lack of awareness and stigma resulting in significant psychosocial problems. As the number of people living with dementia (including young onset) is set to increase, future research with children and young adults with a parent with young onset dementia is important in order to better support this cohort.
| S-EPMC9109219 | biostudies-literature