Self-regulation in Barth syndrome: a qualitative perspective of adolescents, adults and parents in the U.K.
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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.
| S-EPMC6836365 | biostudies-literature
Project description:Barth Syndrome (BTHS) is an X-linked mitochondrial cardioskeletal myopathy caused by defects in TAFAZZIN, a gene responsible for cardiolipin remodeling. Altered mitochondrial levels of cardiolipin lead to cardiomyopathy (CM), muscle weakness, exercise intolerance, and mortality. Cardiac risk factors predicting outcome are unknown. Therefore, we conducted a longitudinal observational study to determine risk factors for outcome in BTHS. Subjects with minimum two evaluations (or one followed by death or transplant) were included. Cardiac size, function, and QTc data were measured by echocardiography and electrocardiography at 7 time points from 2002 to 2018. Analysis included baseline, continuous, and categorical variables. Categorical risk factors included prolonged QTc, abnormal right ventricle fractional area change (RV FAC), left ventricle (LV) or RV non-compaction, and restrictive CM phenotype. The association between variables and cardiac death or transplant (CD/TX) was assessed. Median enrollment age was 7 years (range 0.5-22; n = 44). Transplant-free survival (TFS) was 74.4% at 15 years from first evaluation. The cohort demonstrated longitudinal declines in LV size and stroke volume z-scores (end-diastolic volume, p = 0.0002; stroke volume p < 0.0001), worsening RV FAC (p = 0.0405), and global longitudinal strain (GLS) (p = 0.0001) with stable ejection (EF) and shortening (FS) fraction. CD/TX subjects (n = 9) displayed worsening LV dilation (p = 0.0066), EF (p ≤ 0.0001), FS (p = 0.0028), and RV FAC (p = .0032) versus stability in TFS. Having ≥ 2 categorical risk factors predicted CD/TX (p = 0.0073). Over 15 years, 25% of BTHS subjects progressed to CD/TX. Those with progressive LV enlargement, dysfunction, and multiple cardiac risk factors warrant increased surveillance and intense therapy.
| S-EPMC9462389 | biostudies-literature
Project description:BackgroundNon-suicidal self-injury (NSSI) is prevalent in adolescents and brings a series of serious consequences to their well-being. However, little is known about parents' attitude toward NSSI in Chinese adolescents. The study aims to investigate the parents' attitudes toward and perceptions of adolescents who have engaged in NSSI behaviors, and the impact of NSSI on their parents.MethodsPurposive sampling was used in the study. The biological parents of adolescents with NSSI were recruited from the psychiatric ward of a tertiary hospital in China. Semi-structured interviews were conducted which contained three aspects, that is the history of NSSI, the process of seeking or maintaining help and the impacts on the family. Each interview typically lasted 40-50 min. All of the interviews were audio-recorded. Their responses were analyzed by the thematic analysis.ResultsTwenty participants completed the interview, consisting of 16 mothers and 4 fathers. Three themes and eight sub-themes were extracted: (1) the attitudes to children's NSSI behaviors (ignorance, shame, and stereotype); (2) coping strategies of parents (the initial response to adolescents' NSSI, and the way of help-seeking); (3) the impacts on family (altered parenting and communication styles, limited personal lives, and increased psychological pressure).ConclusionThe results showed that parents lack the knowledge about NSSI and its treatment and are suffering great emotional stress. It is recommended to expand the popularization of knowledge of NSSI in adolescents and more interventions adapted to China's sociocultural climate are required for the well-being of parents and NSSI in adolescents.
| S-EPMC7373789 | biostudies-literature
Project description:Barth syndrome (BTHS) is an X-linked recessive disorder that is typically characterized by cardiomyopathy (CMP), skeletal myopathy, growth retardation, neutropenia, and increased urinary levels of 3-methylglutaconic acid (3-MGCA). There may be a wide variability of phenotypes amongst BTHS patients with some exhibiting some or all of these findings. BTHS was first described as a disease of the mitochondria resulting in neutropenia as well as skeletal and cardiac myopathies. Over the past few years, a greater understanding of BTHS has developed related to the underlying genetic mechanisms responsible for the disease. Mutations in the TAZ gene on chromosome Xq28, also known as G4.5, are responsible for the BTHS phenotype resulting in a loss-of-function in the protein product tafazzin. Clinical management of BTHS has also seen improvement. Patients with neutropenia are susceptible to life-threatening bacterial infections with sepsis being a significant concern for possible morbidity and mortality. Increasingly, BTHS patients are suffering from heart failure secondary to their CMP. Left ventricular noncompaction (LVNC) and dilated CMP are the most common cardiac phenotypes reported and can lead to symptoms of heart failure as well as ventricular arrhythmias. Expanded treatment options for end-stage myocardial dysfunction now offer an opportunity to change the natural history for these patients. Herein, we will provide a current review of the genetic and molecular basis of BTHS, the clinical features and management of BTHS, and potential future directions for therapeutic strategies.
| S-EPMC3892174 | biostudies-literature
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.
| S-EPMC3583704 | biostudies-other
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.
| S-EPMC7381003 | biostudies-literature
Project description:BackgroundBarth syndrome (BTHS) is a rare X-linked disorder that is characterized by mitochondrial abnormalities, cardio-skeletal myopathy, exercise intolerance, and premature mortality. The effect on endurance exercise training on exercise tolerance, cardio-skeletal function, and quality of life in BTHS is unknown.MethodsFour young adults (23 ± 5 years, n = 4) with BTHS participated in a 12-week, supervised, individualized endurance exercise training program. Exercise training was performed on a cycle ergometer for 30-45' three times per week at a moderate intensity level. Exercise tolerance was measured by graded exercise testing and peak oxygen consumption, heart function via two-dimensional and M-mode echocardiography, skeletal muscle function by near-infrared spectroscopy, and quality of life through the Minnesota Living with Heart Failure questionnaire.ResultsThere were no adverse events during exercise testing or training for any participant. Peak oxygen consumption modestly (~5%) improved in three or four participants. Mean quality of life questions regarding dyspnea and side effects from medications significantly improved following exercise training. Mean resting heart function or skeletal muscle oxygen extraction during exercise did not improve after exercise training.ConclusionEndurance exercise training is safe and appears to modestly improve peak exercise tolerance and certain measures of quality of life in young adults with BTHS. However, compared to improvements resulting from endurance exercise training seen in other non-BTHS mitochondrial myopathies and heart failure, these improvements appear blunted. Further research into the most beneficial mode, intensity and frequency of exercise training in BTHS is warranted.
| S-EPMC5362555 | biostudies-literature
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.
| S-EPMC6483838 | biostudies-literature
Project description:The present study examines whether early adolescents' self-efficacy beliefs about anger regulation mediate the relation between parents' self-efficacy beliefs about anger regulation and early adolescents' internalizing and externalizing problems. Participants were 534 early adolescents (T1: M age = 10.89, SD = .70; 50% female), their mothers (n = 534), and their fathers (n = 431). Families were drawn from Colombia, Italy, and the USA. Follow-up data were obtained two (T2) and three (T3) years later. At T1 and T3, parents' self-efficacy beliefs were self-reported and internalizing and externalizing problems were assessed via mothers', fathers', and early adolescents' reports. At T2, early adolescents' self-efficacy beliefs were self-reported Within the overall sample, mothers with higher self-efficacy beliefs about anger regulation had children with similar beliefs. Early adolescents' low self-efficacy beliefs were associated with higher internalizing and externalizing problems.
| S-EPMC5920650 | biostudies-literature
Project description:BackgroundRecent studies have indicated that bariatric surgery is effective for the treatment of youth with severe obesity. The attitudes of pediatricians, parents, and adolescents regarding this topic remain unclear. Therefore, the aim of this study was to assess the current thoughts and beliefs of Dutch pediatricians, parents, and adolescents regarding bariatric surgery in youth.MethodsAn online survey containing twenty questions on bariatric surgery in youth was distributed to pediatricians of the Dutch Society of Pediatrics. Parents and adolescents who participated in an interdisciplinary care program for overweight, obesity, and severe obesity filled out an online survey of twelve questions.ResultsOne hundred and twenty-one pediatricians, 49 parents, and 19 adolescents completed the surveys. Seventy-two pediatricians (59.5%) considered bariatric surgery to be an effective treatment for youth with severe obesity when conventional treatment fails, and intend to refer patients for bariatric surgery. The most frequently suggested conditions for bariatric surgery were a minimum age of 16 years (n = 59, 48.7%), a BMI threshold of 40 kg/m2 (n = 51, 42.2%), and a minimum Tanner stage of IV (n = 59, 48.8%). Thirty parents (61.2%) and fourteen adolescents (73.7%) responded that bariatric surgery should become available for youth with severe obesity.ConclusionDutch pediatricians, parents, and adolescents increasingly accept bariatric surgery as a treatment modality in youth with severe obesity who do not respond successfully to lifestyle intervention. Whether pediatricians will actually refer youth for bariatric surgery remains to be seen when this treatment option will be implemented in the Netherlands.
| S-EPMC8490240 | biostudies-literature