Dataset Information

Impact of trimethylaminuria on daily psychosocial functioning.

ABSTRACT:

Background

Trimethylaminuria (TMAU) (OMIM #602079) is a rare inherited metabolic condition. TMAU is associated with decreased hepatic trimethylamine N-oxidation, which leads to an excess of the volatile trimethylamine (TMA) instead of substrate conversion to trimethylamine N-oxide (TMAO). TMA is a tertiary amine derived from the enterobacterial metabolism of precursors such as choline and phosphatidylcholine present in the diet, and is also a bacterial metabolite of TMAO, a normal constituent of saltwater fish. When the involved enzyme flavin mono-oxygenase 3 is deficient, TMA builds up and is released in the person's sweat, urine, and breath, giving off a strong body odor. We have recently reported the biochemical and genetic characteristics of 13 Irish adult patients with TMAU attending the main Irish Reference Center. Research on the behavioral and psychosocial aspects of this condition is limited. This study explores the patients' perspectives of living with TMAU in Ireland.

Methods

A qualitative descriptive phenomenological approach was used. Six adults participated in this study. Data were gathered through semi-structured interviews, which were transcribed and analyzed.

Results

The results suggest that the participants experienced a negative journey to diagnosis. Fear, anxiety, paranoia, and dysfunctional thinking are a constant struggle. Participants reported using avoidant coping mechanisms and strategic planning to navigate daily life.

Conclusion

It is considered that the results from this study will inform future interventions with this unique patient cohort.

SUBMITTER: Roddy D

PROVIDER: S-EPMC7802621 | biostudies-literature | 2021 Jan

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

Impact of trimethylaminuria on daily psychosocial functioning.

Roddy Daniel D McCarthy Philomena P Nerney Darragh D Mulligan-Rabbitt Jennifer J Smith Edwin E Treacy Eileen P EP

JIMD reports 20201006 1

<h4>Background</h4>Trimethylaminuria (TMAU) (OMIM #602079) is a rare inherited metabolic condition. TMAU is associated with decreased hepatic trimethylamine N-oxidation, which leads to an excess of the volatile trimethylamine (TMA) instead of substrate conversion to trimethylamine N-oxide (TMAO). TMA is a tertiary amine derived from the enterobacterial metabolism of precursors such as choline and phosphatidylcholine present in the diet, and is also a bacterial metabolite of TMAO, a normal consti ...[more]

PMID: 33473342

Similar Datasets

Project description:BACKGROUND:Despite early diagnosis and treatment, Classical Galactosemia (CG) patients frequently develop long-term complications, such as cognitive impairment. Available literature primarily reports on general intellectual abilities and shows a substantially lower Full Scale Intelligence Quotient (FSIQ) in CG patients than in the general population. Both problems in social functioning as well as internalizing problems are often reported in CG patients. The combination of intelligence, cognitive functioning, behavior and social functioning has not been studied systematically in CG patients. METHODS:To determine if CG patients demonstrate a specific neuropsychological and psychosocial profile, we investigated intelligence, functioning on multiple cognitive domains, behavior and social functioning with a comprehensive neuropsychological test battery and questionnaires (self- and proxy-reported). RESULTS:The data of 48 patients, aged 4-47?years are reported. FSIQ ranged from 45 to 103 (mean 77?±?14). A negative correlation between age and FSIQ was demonstrated (p?=?0.037) which resulted directly from the inclusion of four young 'milder' patients detected by newborn screening (NBS) with an expected better clinical outcome. Compared to normative data, patients had significantly lower but highly variable scores on all cognitive domains, especially on tests requiring mental speed. In the context of the FSIQ, 43% of the cognitive test results exceeded IQ based expectations. Overall, the patients' scores on social functioning were in the normal range but internalizing problems were frequently reported. In our cohort, an early initiation of dietary treatment due to NBS or family screening did not result in a more favorable neuropsychological outcome. CONCLUSIONS:In this study, we demonstrated that as a cohort, CG patients have a below average intelligence and impaired cognitive functioning without a distinctive neuropsychological profile. The effect of age on neurocognitive functioning should be assessed in longitudinal studies. Social functioning was not impaired, but patients may be at risk for internalizing problems. Considering the large variability in cognitive, behavioral and social functioning and the finding that cognitive outcomes may exceed IQ based expectations, an individual evaluation and follow-up is warranted in all CG patients to ensure timely support if needed.

Project description:Background: Older adults are at a greater risk for contracting and experiencing severe illness from COVID-19 and may be further affected by pandemic-related precautions (e.g., social distancing and isolation in quarantine). However, the longitudinal impact of the COVID-19 pandemic on older adults is unclear. The current study examines changes in health behaviors, psychosocial factors, and cognitive functioning in a large sample of older adults using a pre-pandemic baseline and longitudinal follow-up throughout 9 months of the COVID-19 pandemic. Methods: One hundred and eighty-nine older adults (ages 65-89) were recruited from a multisite clinical trial to complete additional virtual assessments during the COVID-19 pandemic. Mixed effects models evaluated changes in health behaviors, psychosocial factors, and cognitive functioning during the pandemic compared to a pre-pandemic baseline and over the course of the pandemic (i.e., comparing the first and last COVID-19 timepoints). Results: Compared to their pre-pandemic baseline, during the pandemic, older adults reported worsened sleep quality, perceived physical health and functioning, mental health, slight increases in depression and apathy symptoms, reduced social engagement/perceived social support, but demonstrated better performance on objective cognitive tasks of attention and working memory. Throughout the course of the pandemic, these older adults reported continued worsening of perceived physical health and function, fewer depression symptoms, and they demonstrated improved cognitive performance. It is important to note that changes on self-report mood measures and cognitive performance were relatively small regarding clinical significance. Education largely served as a protective factor, such that greater years of education was generally associated with better outcomes across domains. Conclusions: The present study provides insights into the longitudinal impact of the COVID-19 pandemic on health behaviors, psychosocial factors, and cognitive functioning in a population disproportionately affected by the virus. Replicating this study design in a demographically representative older adult sample is warranted to further inform intervention strategies targeting older adults negatively impacted by the COVID-19 pandemic.

Project description:BACKGROUND:Marfan syndrome (MFS) is a heritable connective tissue disease caused by a defect in FBN1. The diagnosis is based on the revised Ghent criteria. The main features involve the cardiovascular, musculoskeletal, ophthalmic, pulmonary systems and facial features. Although the clinical manifestations of MFS in children are thoroughly addressed in several studies, literature on the impact of MFS on daily functioning is restricted to pediatric advice on sports and leisure participation. Therefore, the full impact of MFS on daily functioning remains unclear. The aim of this qualitative study was to explore parents' perspectives on the impact of MFS on daily functioning of children with MFS aged 4-12 years, themselves and family regarding functional performance, activities, participation, personal and environmental factors, and disease burden. METHODS:In this qualitative study parents participated in individual semi-structured interviews (n = 10) and 3 focus groups (n = 5, n = 5 and n = 6). Meetings were transcribed, and data were analyzed using thematic analysis. Meaningful concepts were coded, and concepts concerning children with MFS were linked to the International Classification of Functioning, Disability and Health for Children and Youth. Thereafter themes were identified and interpreted. RESULTS:Parents reported their children could not keep up with peers because of fatigue, pain and physical impairments. Children experienced participation restrictions in school, sports, play and other leisure activities. Parents reported their child as being different due to physical appearance, which provoked unsupportive attitudes. Parental burden was caused by high care needs, lack of support, a limited social life, and concerns about the child's development. Family burden was caused by adjusted and complex family schedules, other family members with MFS, and reproductive planning decision-making, whereas family cohesiveness and caring were positively perceived factors. CONCLUSIONS:Parents perceived a large impact of MFS on daily functioning of their children with MFS, themselves and their family. More awareness among all professionals involved in the care of children with MFS and their families is needed so that professionals can address their support needs and provide tailored interventions, rehabilitation and/or educational programs to empower and improve daily functioning of the children, parents and family.

Project description:There is growing interest in elucidating the determinants of newborn telomere length, given its potential as a biomarker of lifetime disease risk affected by prenatal exposures. There is limited evidence that increased maternal stress during pregnancy predicts shorter newborn telomere length. However, the few studies published to date have been conducted primarily with small samples utilizing inconsistent definitions of maternal stress. Moreover, the potential influence of fetal sex as a moderator of maternal stress effects on newborn telomere length has been largely ignored despite compelling evidence of likely impact. In a prospective cohort study of pregnant women seeking routine prenatal care, we tested whether a range of maternal measures of stressor exposures, subjective feelings of stress, and mental health (depression, anxiety) were associated with newborn telomere length assessed from cord blood among 146 pregnant women and their newborn infants. We further examined whether the pattern of associations differed by infant sex. Sociodemographic and maternal and newborn health indicators were considered as potential covariates. When examined within the whole sample, none of the maternal psychosocial measures were associated with newborn telomere length. Among potential covariates, maternal history of smoking and preeclampsia in a previous pregnancy were negatively associated with newborn telomere length. In adjusted linear regression analyses that considered potential sex-specific effects, maternal depression, general anxiety, and pregnancy-specific anxiety symptoms were positively associated with newborn telomere length among males. Overall, the findings provide some evidence for an association between maternal psychosocial wellbeing in pregnancy and newborn telomere length in males, although in the opposite direction than previously reported. Maternal smoking and obstetric history prior to conception may be associated with shorter offspring telomere length.

Dataset Information

Impact of trimethylaminuria on daily psychosocial functioning.

Background

Methods

Results

Conclusion

Publications

Impact of trimethylaminuria on daily psychosocial functioning.

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure

Tweets