Family experiences and attitudes about receiving the diagnosis of sex chromosome aneuploidy in a child.
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ABSTRACT:
SUBMITTER: Riggan KA
PROVIDER: S-EPMC7321881 | biostudies-literature |
REPOSITORIES: biostudies-literature
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Project description:Sex chromosome multisomies (SCMs) are genomic conditions with variable phenotypes that range from undetectable to requiring extensive clinical intervention. Currently, many individuals with SCMs are diagnosed in adolescence or adulthood based on physical symptoms related to pubertal development and infertility. Given the expansion of genetic testing in routine clinical practice, the diagnosing clinician is increasingly a primary care or family medicine provider. This study aims to help providers better understand the patient experience of receiving a diagnosis. We conducted a survey of individuals (n = 55) with SCMs using closed and open-ended questions. Open-response questions were qualitatively analyzed and are reported here with the descriptive results of the closed-ended questions. Most participants were diagnosed with 47,XXY (n = 51; 85.0%), identified as White race/ethnicity (n = 46; 88.5%), and were college graduates or higher (n = 29; 54.7%). Many participants reported dissatisfaction with the delivery of the diagnosis, expressing that it was rushed and their provider lacked detailed information about the condition. Participants were frustrated by the general lack of availability of high-quality informational resources from both medical and other sources at the time of diagnosis. Some participants also described the social and psychological impact of the diagnosis and how it was delivered. To the best of our knowledge, this is the largest survey of individuals diagnosed with SCMs, which is notable considering their prevalence and low diagnostic rate. Our findings provide patient-informed insight on how to improve the delivery of SCM diagnoses, especially delivery in a primary care setting, including the provision of up-to-date information and proactive referral to specialty care and counseling services.
| S-EPMC9681968 | biostudies-literature
Project description:BACKGROUND: In cultured, dividing transformed T lymphocytes and in dividing bone marrow cells from normal men and those with a haematological malignancy, sex chromosome aneuploidy has been found to increase in prevalence and degree with age. This has rarely been investigated in non-dividing uncultured blood samples. The loss and gain of the X chromosome in dividing transformed lymphocytes in women with age is much more frequent than that of the Y chromosome in males. However, paradoxically X chromosome aneuploidy is rarely seen in the dividing cells of bone marrow of females. METHODS: In blood samples from 565 men with breast cancer and 54 control men from the England and Wales general population, 80 cell nuclei per sample were scored for presence of X and Y chromosomes using fluorescent centromeric probes. RESULTS: Sex chromosome aneuploidy, largely Y chromosome loss, was present in 63% of cases and 57% of controls, with the prevalence and degree of aneuploidy increasingly sharply and highly significantly with age. At ages 65-80 years, 71% of cases and 85% of controls showed aneuploidy and 15% and 25%, respectively, had ≥ 10% of cells aneuploid. Allowing for age, aneuploidy was less prevalent (P=0.03) in cases than controls. CONCLUSION: Sex chromosome aneuploidy in non-dividing nuclei of peripheral blood cells is frequent in adult men, the prevalence and degree increasing sharply with age. The possible relation of sex chromosome aneuploidy to breast cancer risk in men, and to cancer risk generally, needs further investigation, ideally in cohort studies.
| S-EPMC3590654 | biostudies-other
Project description:BackgroundSex is an important covariate of epigenome-wide association studies due to its strong influence on DNA methylation patterns across numerous genomic positions. Nevertheless, many samples on the Gene Expression Omnibus (GEO) frequently lack a sex annotation or are incorrectly labelled. Considering the influence that sex imposes on DNA methylation patterns, it is necessary to ensure that methods for filtering poor samples and checking of sex assignment are accurate and widely applicable.ResultsHere we presented a novel method to predict sex using only DNA methylation beta values, which can be readily applied to almost all DNA methylation datasets of different formats (raw IDATs or text files with only signal intensities) uploaded to GEO. We identified 4345 significantly (p<0.01) sex-associated CpG sites present on both 450K and EPIC arrays, and constructed a sex classifier based on the two first principal components of the DNA methylation data of sex-associated probes mapped on sex chromosomes. The proposed method is constructed using whole blood samples and exhibits good performance across a wide range of tissues. We further demonstrated that our method can be used to identify samples with sex chromosome aneuploidy, this function is validated by five Turner syndrome cases and one Klinefelter syndrome case.ConclusionsThis proposed sex classifier not only can be used for sex predictions but also applied to identify samples with sex chromosome aneuploidy, and it is freely and easily accessible by calling the 'estimateSex' function from the newest wateRmelon Bioconductor package ( https://github.com/schalkwyk/wateRmelon ).
| S-EPMC8240370 | biostudies-literature
Project description:BackgroundSex chromosome aneuploidies (SCAs) are a collectively common family of genetic disorders that increase the risk for neuropsychiatric and cognitive impairment. Beyond being important medical disorders in their own right, SCAs also offer a unique naturally occurring model for studying X- and Y-chromosome influences on the human brain. However, it remains unclear if (i) different SCAs are associated with different profiles of psychopathology and (ii) the notable interindividual variation in psychopathology is related to co-occurring variation in cognitive ability.MethodsWe examined scores for 11 dimensions of psychopathology [Child/Adult Behavior Checklist (CBCL)] and general cognitive ability [full-scale IQ (FSIQ) from Wechsler tests] in 110 youth with varying SCAs (XXY = 41, XYY = 22, XXX = 27, XXYY = 20) and 131 typically developing controls (XX = 59, XY = 72).ResultsAll SCAs were associated with elevated CBCL scores across several dimensions of psychopathology (two-sample t tests comparing the euploidic and aneuploidic groups [all |T| > 9, and p < 0.001]). Social and attentional functioning were particularly sensitive to the carriage of a supernumerary Y-chromosome. In particular, the XYY group evidenced significantly more social problems than both extra-X groups (Cohen's d effect size > 0.5, Bonferroni corrected p < .05). There was marked variability in CBCL scores within each SCA group, which generally correlated negatively with IQ, but most strongly so for social and attentional difficulties (standardized β, - 0.3). These correlations showed subtle differences as a function of the SCA group and CBCL scale.ConclusionsThere is domain-specific variation in psychopathology across SCA groups and domain-specific correlation between psychopathology and IQ within SCAs. These findings (i) help to tailor clinical assessment of this common and impactful family of genetic disorders and (ii) suggest that dosage abnormalities of X- and Y-linked genes impart somewhat distinct profiles of neuropsychiatric risk.
| S-EPMC8903493 | biostudies-literature
Project description:Sex chromosome aneuploidy (SCA) increases the risk for cognitive deficits, and confers changes in regional cortical thickness (CT) and surface area (SA). Neuroanatomical correlates of inter-individual variation in cognitive ability have been described in health, but are not well-characterized in SCA. Here, we modeled relationships between general cognitive ability (estimated using full-scale IQ [FSIQ] from Wechsler scales) and regional estimates of SA and CT (from structural MRI scans) in both aneuploid (28 XXX, 55 XXY, 22 XYY, 19 XXYY) and typically-developing euploid (79 XX, 85 XY) individuals. Results indicated widespread decoupling of normative anatomical-cognitive relationships in SCA: we found five regions where SCA significantly altered SA-FSIQ relationships, and five regions where SCA significantly altered CT-FSIQ relationships. The majority of areas were characterized by the presence of positive anatomy-IQ relationships in health, but no or slightly negative anatomy-IQ relationships in SCA. Disrupted anatomical-cognitive relationships generalized from the full cohort to karyotypically defined subcohorts (i.e., XX-XXX; XY-XYY; XY-XXY), demonstrating continuity across multiple supernumerary SCA conditions. As the first direct evidence of altered regional neuroanatomical-cognitive relationships in supernumerary SCA, our findings shed light on potential genetic and structural correlates of the cognitive phenotype in SCA, and may have implications for other neurogenetic disorders.
| S-EPMC7497743 | biostudies-literature
Project description:Parents play a critical role in the progression and outcomes of juvenile dependency (child welfare court) cases. Yet, very little is known about these parents' knowledge, attitudes, and experiences. We examined legal understanding and attitudes among 201 parents involved in ongoing dependency cases in California and Florida via semi-structured, in-person interviews. We expected parents' understanding to be low and attitudes to be negative, particularly among parents of color and low SES parents. We expected greater dependency understanding to be related to more positive justice attitudes, and procedural and distributive justice attitudes to be indistinguishable in this population. Findings partially confirmed expectations. Parents' understanding of the system was low, especially among parents of color and less educated parents. Parents felt less than satisfied about the fairness of procedures and decisions. However, procedural and distributive justice attitudes were distinguishable. Finally, and unexpectedly, parents' knowledge and attitudes were negatively related. The consistently low levels of knowledge across CA and FL suggest the critical need to increase parental knowledge. It is also important to promote fair court procedures and decision-making to improve parents' attitudes about procedural and distributive justice, which were found to be distinct and important factors among parents navigating juvenile dependency cases.
| S-EPMC10088555 | biostudies-literature
Project description:ObjectiveTo report patients' own experiences of receiving a diagnosis of Parkinson's disease (PD) and to identify factors influencing this experience.MethodsA survey by the European Parkinson's Disease Association in 11 European countries.Results1775 patients with an average age of 69.7 years participated of whom 54% were male. Those living in rural areas reported having waited longer to seek medical help (p < 0.05). A possible diagnosis of PD was made at the first appointment in a third of respondents. When the diagnosis was made, only 50% reported that the diagnosis was communicated sensitively. 38% of patients reported having been given enough time to ask questions and discuss concerns, but 29% did not. 98% of participants reported having been given information about PD at the time of diagnosis but 36% did not find the information given helpful. Patient satisfaction with the diagnostic consultation was positively associated with more sensitive delivery of diagnosis, the helpfulness and quantity of the information provided and time to ask questions (all p < 0.001). Where diagnosis was given by a specialist, participants reported greater perceived satisfaction with the diagnostic consultation, greater sensitivity of communicating the diagnosis, time to ask questions, provision and helpfulness of information, and earlier medication prescription (all p < 0.0001).ConclusionsThere is a need to improve how the diagnosis of PD is communicated to patients, the opportunity to ask questions soon after diagnosis, and the amount, timing and quality of life information provided, as this is associated with greater satisfaction with the diagnostic process.
| S-EPMC5937885 | biostudies-literature
Project description:ObjectiveTo understand parent journeys while navigating diagnosis, assessment or treatment of their children with idiopathic toe walking (ITW).DesignMixed methods qualitative study: analyses of survey data from the measure of processes of care-20 (MPOC-20) and semistructured interviews were analysed with an interpretative phenomenological analysis approach. Trustworthiness of data was achieved through member checking, researcher triangulation, reflexivity and transferability and comparison with the MPOC-20 results.SettingUSA and Australia.ParticipantsParents of children diagnosed with ITW who had seen more than one health professional during their care and lived in Australia or the USA.ResultsTen parents of children aged between 3 and 13 years and diagnosed with ITW participated. Parents described complex themes relating to their journeys. The themes relating to their journeys were: (1) riding the rollercoaster of diagnosis; (2) navigating the treatment options and (3) supporting parents in the journey. Each theme was supported by parent quotes about their experiences. Challenges were not localised to one country, in spite of vastly different healthcare systems.ConclusionsThese findings create opportunities for an international approach to education, treatment recommendations and outcome measures to improve patient and parent experiences. Health professionals should consider the impact on parents in navigating between health professionals when provided with a diagnosis which can have variable outcomes and varied treatment options.
| S-EPMC7470490 | biostudies-literature
Project description:BackgroundNurses play an integral role in the care of children hospitalised with a serious illness. Although information about diagnostics, treatments, and prognosis are generally conveyed to parents and caregivers of seriously ill children by physicians, nurses spend a significant amount of time at the child's bedside and have an acknowledged role in helping patients and families understand the information that they have been given by a doctor. Hence, the ethical role of the nurse in truth disclosure to children is worth exploring.MethodsA systematic academic database and grey literature search strategy was conducted using CINAHL, Medline Psych Info, and Google Scholar. Keywords used included truth, children, nurse, disclosure, serious illness, and communication. A total of 17 publications of varying types were included in the final data set.Ethical considerationsAs this was a review of the literature, there were no direct human participants. Empirical studies included in the review had received ethics approval.ResultsOf the 17 articles included in the review, only one directly reported on the experiences of nurses asked to withhold the truth from patients. Empirical studies were limited to HIV-positive children and children diagnosed with cancer and the dying child.ConclusionA paucity of literature exploring the experiences, attitudes, and beliefs of nurses with regard to truth-telling to seriously ill children is evident. Little consideration has been given to the role nurses play in communicating medical information to children in a hospital setting. The 17 articles included in the review focused on cancer, and HIV, diagnosis, and end-of-life care. Further research should be undertaken to explore the experiences and attitudes of nurses to clinical information sharing to children hospitalised with a wide range of serious illnesses and in diverse clinical scenarios.
| S-EPMC11370149 | biostudies-literature
Project description:Massively parallel sequencing (MPS) combined with bioinformatic analysis has been widely applied to detect fetal chromosomal aneuploidies such as trisomy 21, 18, 13 and sex chromosome aneuploidies (SCAs) by sequencing cell-free fetal DNA (cffDNA) from maternal plasma, so-called non-invasive prenatal testing (NIPT). However, many technical challenges, such as dependency on correct fetal sex prediction, large variations of chromosome Y measurement and high sensitivity to random reads mapping, may result in higher false negative rate (FNR) and false positive rate (FPR) in fetal sex prediction as well as in SCAs detection. Here, we developed an optimized method to improve the accuracy of the current method by filtering out randomly mapped reads in six specific regions of the Y chromosome. The method reduces the FNR and FPR of fetal sex prediction from nearly 1% to 0.01% and 0.06%, respectively and works robustly under conditions of low fetal DNA concentration (1%) in testing and simulation of 92 samples. The optimized method was further confirmed by large scale testing (1590 samples), suggesting that it is reliable and robust enough for clinical testing.
| S-EPMC4956272 | biostudies-literature