Dataset Information

Self-regulation in Barth syndrome: a qualitative perspective of adolescents, adults and parents in the U.K.

ABSTRACT:

Background

Barth syndrome (BS) is a life-threatening genetic disease caused by abnormal lipids in the mitochondria of cells and mostly affects young males. Those living with BS have severe exercise intolerance, lethargy and fatigue due to muscle disease which affect their daily life. Previous research suggests a need for qualitative exploration of self-regulation in BS and the inter-personal processes at play in family life. Therefore this study aimed to explore self-regulation and coping strategies and inter-personal responses in individuals and families affected by Barth syndrome. A multi-perspective qualitative study based on face to face, semi-structured, in-depth interviews with 11 participants (9-27 years, mean 15 years) with BS and/or their parents participating in a randomised double-blind clinical drug trial (CARDIOMAN). Interviews were transcribed verbatim and managed in NVivo prior to conducting a thematic analysis (AS and GH).

Results

Four key themes were identified: diagnosis and treatment, social support, identity and social integration, symptoms and self-regulation. The present findings suggest that self-regulation and coping in boys with BS was interpersonal and contingent on parental awareness such that parents were aware that their child had a limited energy reserve and that had to be managed due to the implications of fatigue for daily living.

Conclusion

The findings support previous quantitative work demonstrating that children and parents tend to share a coherent view of BS. However, there is a need for greater awareness from others within the wider context of social and employment networks to minimise adverse implications for future life choices.

SUBMITTER: Searle A

PROVIDER: S-EPMC8482682 | biostudies-literature |

REPOSITORIES: biostudies-literature

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Project description:BACKGROUND:Barth syndrome (BTHS, OMIM 302060) is a rare, life-threatening, x-linked genetic disorder that occurs almost exclusively in males and is characterized by cardiomyopathy, neutropenia, skeletal muscle myopathy primarily affecting larger muscles, and shorter stature in youth. A greater number of individuals with BTHS are now surviving into adulthood due to advancements in diagnosis and disease management. Given these improvements in life expectancy, understanding the disease experience over time has become increasingly important to individuals with the condition, treatment developers, and regulatory agencies. A study was conducted to explore the experience of BTHS from the perspective of adult males at least 35?years of age with the condition via in-depth qualitative interviews. RESULTS:Findings showed that adults with BTHS experienced a variety of signs/symptoms with variable onset and severity throughout their lives, the most frequently reported being the symptoms of tiredness, muscle weakness, and a fast and/or irregular heart rate, and the sign of short stature in youth. These signs/symptoms negatively impacted individuals' emotional, physical, social, and role functioning. Tiredness and weakness impacted some individuals' physical functioning from an early age and into adulthood. These symptoms generally worsened over time, increasingly interfering with individuals' ability to fully participate in paid and unpaid labor and to partake in family and leisure activities. CONCLUSIONS:This research complements recent studies characterizing the potentially degenerative and progressive nature of BTHS and can encourage future research into the natural history and progression of BTHS in untreated individuals. Participants' interview responses revealed a range of symptoms and the potential for multiple impacts on individuals' physical, social, emotional, and role functioning as a result of BTHS symptoms, yet also revealed variability in severity of experience as well as the possibility of resilience and adaptation to the condition.

Project description:First described in 1983, Barth syndrome (BTHS) is widely regarded as a rare X-linked genetic disease characterised by cardiomyopathy (CM), skeletal myopathy, growth delay, neutropenia and increased urinary excretion of 3-methylglutaconic acid (3-MGCA). Fewer than 200 living males are known worldwide, but evidence is accumulating that the disorder is substantially under-diagnosed. Clinical features include variable combinations of the following wide spectrum: dilated cardiomyopathy (DCM), hypertrophic cardiomyopathy (HCM), endocardial fibroelastosis (EFE), left ventricular non-compaction (LVNC), ventricular arrhythmia, sudden cardiac death, prolonged QTc interval, delayed motor milestones, proximal myopathy, lethargy and fatigue, neutropenia (absent to severe; persistent, intermittent or perfectly cyclical), compensatory monocytosis, recurrent bacterial infection, hypoglycaemia, lactic acidosis, growth and pubertal delay, feeding problems, failure to thrive, episodic diarrhoea, characteristic facies, and X-linked family history. Historically regarded as a cardiac disease, BTHS is now considered a multi-system disorder which may be first seen by many different specialists or generalists. Phenotypic breadth and variability present a major challenge to the diagnostician: some children with BTHS have never been neutropenic, whereas others lack increased 3-MGCA and a minority has occult or absent CM. Furthermore, BTHS was first described in 2010 as an unrecognised cause of fetal death. Disabling mutations or deletions of the tafazzin (TAZ) gene, located at Xq28, cause the disorder by reducing remodeling of cardiolipin, a principal phospholipid of the inner mitochondrial membrane. A definitive biochemical test, based on detecting abnormal ratios of different cardiolipin species, was first described in 2008. Key areas of differential diagnosis include metabolic and viral cardiomyopathies, mitochondrial diseases, and many causes of neutropenia and recurrent male miscarriage and stillbirth. Cardiolipin testing and TAZ sequencing now provide relatively rapid diagnostic testing, both prospectively and retrospectively, from a range of fresh or stored tissues, blood or neonatal bloodspots. TAZ sequencing also allows female carrier detection and antenatal screening. Management of BTHS includes medical therapy of CM, cardiac transplantation (in 14% of patients), antibiotic prophylaxis and granulocyte colony-stimulating factor (G-CSF) therapy. Multidisciplinary teams/clinics are essential for minimising hospital attendances and allowing many more individuals with BTHS to live into adulthood.

Project description:BACKGROUND:The natural integration of mobile phones into the daily routines of families provides novel opportunities to study and support family functioning and the quality of interactions between family members in real time. OBJECTIVE:This study aimed to examine user experiences of feasibility, acceptability, and reactivity (ie, changes in awareness and behaviors) of using a smartphone app for self-monitoring of family functioning with 36 participants across 15 family dyads and triads of young adolescents aged 10 to 14 years and their parents. METHODS:Participants were recruited from 2 family wellness centers in a middle-to-upper income shopping area and a low-income school site. Participants were instructed and prompted by alarms to complete ecological momentary assessments (EMAs) by using a smartphone app over 2 weeks 4 times daily (upon waking in the morning, afternoon, early evening, and end of day at bedtime). The domains assessed included parental monitoring and positive parenting, parent involvement and discipline, parent-child conflict and resolution, positive interactions and support, positive and negative affect, sleep, stress, family meals, and general child and family functioning. Qualitative interviews assessed user experiences generally and with prompts for positive and negative feedback. RESULTS:The participants were primarily white and Latino of mixed-income- and education levels. Children were aged 10 to 14 years, and parents had a mean age of 45 years (range 37-50). EMA response rates were high (95% to over 100%), likely because of cash incentives for EMA completion, engaging content per user feedback, and motivated sample from recruitment sites focused on social-emotional programs for family wellness. Some participants responded for up to 19 days, consistent with some user experience interview feedback of desires to continue participation for up to 3 or 4 weeks. Over 80% (25/31) of participants reported increased awareness of their families' daily routines and functioning of their families. Most also reported positive behavior changes in the following domains: decision making, parental monitoring, quantity and quality of time together, communication, self-regulation of stress and conflict, discipline, and sleep. CONCLUSIONS:The results of this study support the feasibility and acceptability of using smartphone EMA by young adolescents and parents for assessing and self-monitoring family daily routines and interactions. The findings also suggest that smartphone self-monitoring may be a useful tool to support improvement in family functioning through functions of reflection on antecedents and consequences of situations, prompting positive and negative alternatives, seeding goals, and reinforcement by self-tracking for self-correction and self-rewards. Future studies should include larger samples with more diverse and higher-risk populations, longer study durations, the inclusion of passive phone sensors and peripheral biometric devices, and integration with counseling and parenting interventions and programs.

Project description:Barth syndrome (BTHS) is a rare X-linked condition resulting in abnormal mitochondria, cardioskeletal myopathy, and growth delay; however, the effects of BTHS on substrate metabolism regulation and their relationships with tissue function in humans are unknown. We sought to characterize glucose and fat metabolism during rest, submaximal exercise, and postexercise rest in children, adolescents, and young adults with BTHS and unaffected controls and examine their relationships with cardioskeletal energetics and function. Children/adolescents and young adults with BTHS (n = 29) and children/adolescent and young adult control participants (n = 28, total n = 57) underwent an infusion of 6'6'H2 glucose and U-13 C palmitate and indirect calorimetry during rest, 30-minutes of moderate exercise (50% V˙O2peak ), and recovery. Cardiac function, cardioskeletal mitochondrial energetics, and exercise capacity were examined via echocardiography, 31 P magnetic resonance spectroscopy, and peak exercise testing, respectively. The glucose turnover rate was significantly higher in individuals with BTHS during rest (33.2 ± 9.8 vs 27.2 ± 8.1 μmol/kgFFM/min, P < .01) and exercise (34.7 ± 11.2 vs 29.5 ± 8.8 μmol/kgFFM/min, P < .05) and tended to be higher postexercise (33.7 ± 10.2 vs 28.8 ± 8.0 μmol/kgFFM/min, P < .06) compared to controls. Increases in total fat (-3.9 ± 7.5 vs 10.5 ± 8.4 μmol/kgFFM/min, P < .0001) and plasma fatty acid oxidation rates (0.0 ± 1.8 vs 5.1 ± 3.9 μmol/kgFFM/min, P < .0001) from rest to exercise were severely blunted in BTHS compared to controls. Conclusion: An inability to upregulate fat metabolism during moderate intensity exercise appears to be partially compensated by elevations in glucose metabolism. Derangements in fat and glucose metabolism are characteristic of the pathophysiology of BTHS. A severely blunted ability to upregulate fat metabolism during a modest level of physical activity is a defining pathophysiologic characteristic in children, adolescents, and young adults with BTHS.

Project description:BackgroundIn recent decades, the prevalence of chronic diseases in children and adolescents has increased significantly. Contextual factors play a central role in the self-regulation of chronic diseases. They influence illness and treatment representations, disease management, and health outcomes. While previous studies have investigated the influence of contextual factors on children's beliefs about their illness, little is known about subjective contextual factors of treatment representations of children and adolescents with chronic diseases, especially in the context of rehabilitation. Therefore, the aim of this qualitative analysis was to examine the contextual factors reported by chronically ill children and adolescents in relation to their treatment representations. Furthermore, we aimed to assign the identified themes to classifications of environmental and personal contextual factors in the context of the International Classification of Functioning, Disability and Health (ICF).MethodsBetween July and September 2018, semi-structured interviews were conducted with N = 13 children and adolescents in rehabilitation to explore their rehab-related treatment representations and associated contextual factors. The interviews started with an open narrative question about expectations and beliefs about rehabilitation, followed by further detailed questions. The interviews were recorded on audio tape, transcribed, and analysed using thematic content analysis.ResultsParticipants raised six themes associated with their rehab-related treatment representations that were interpreted as contextual factors: the living situation before rehabilitation, the idea of rehabilitation, previous solution attempts, rehab pre-experiences, information that the children and adolescents received from the clinic or sought themselves, and the assumed attitudes of their parents concerning rehabilitation. All the themes could be assigned to the classification of environmental and personal factors in the context of the ICF for children and youth.ConclusionsAlthough contextual factors have an important impact on self-regulation, little attention is paid to their investigation. Personal and environmental factors probably influence patients' treatment representations in terms of expectations and concerns as well as emotions regarding the treatment. Considering contextual factors could lead to the more appropriate allocation of medical care and the better customisation of treatment.