Not just carriers: experiences of X-linked female heterozygotes

Choi, Jennifer N.; Kane, Taylor; Propst, Lauren; Spencer, Sara; Kostialik, Jamie; Arjunan, Aishwarya

doi:10.1007/s10815-021-02270-6

Cited by 6 publications

(12 citation statements)

References 26 publications

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“…In this context, it is notable that some women mentioned feeling that their family lacked proper understanding. This was also recognised by Choi et al., who report women becoming aware of diagnosis only after delivery of an affected child and limited healthcare provider knowledge, information and support 9 . This is consistent with the difficulties WHC face 4,5,7,10 and most of these themes were shared by WBD.…”

Section: Discussionsupporting

confidence: 68%

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The views of women with bleeding disorders: Results from the Cinderella study

Khair¹,

Pollard²,

Steadman³

et al. 2022

Haemophilia

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Introduction: Despite therapeutic advances in bleeding disorder treatment, over the past 20 years women with bleeding disorders have reported delayed diagnosis, impaired quality of life, dismissive attitudes from health professionals and inappropriate care. Aim:To explore the lived experience of women with a diagnosed bleeding disorder and to improve understanding of their unmet needs.Methods: Women haemophilia carriers (WHC), women with a diagnosed bleeding disorder (WBD) and women with immune thrombocytopenia (WITP) were invited to complete an online survey. Those who indicated a willingness to be interviewed took part in a focus group or one-to-one interview to further explore their lived experiences.Results: Two hundred and eighty women completed the survey (126 WHC, 96 WBD, 58 WITP) 13 women (seven WHC, three WBD, three WITP) participated in a focus group (11) or individual interview (2). The most frequently reported symptoms were heavy periods (81%) and bruising (81%). Compared to the group as a whole, more WBD took time off work or school due to symptoms, had discussed symptoms with a healthcare professional (HCP), and had seen a nurse or gynaecologist. WHC were least likely to be screened for a bleeding disorder or seen in a specialist setting. Themes discussed included difficulty obtaining a diagnosis, lack of awareness amongst and poor communication from HCPs, stress and anxiety, coping strategies and sources of support. Conclusion:Many of the experiences described by women with bleeding disorders 20 years ago remain prevalent. Healthcare provision needs to change to offer them better treatment and support.

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Section: Discussionsupporting

confidence: 68%

“…Choi et al, who report women becoming aware of diagnosis only after delivery of an affected child and limited healthcare provider knowledge, information and support 9. This is consistent with the difficulties WHC face 4,5,7,10 and most of these themes were shared by WBD.…”

mentioning

confidence: 54%

The views of women with bleeding disorders: Results from the Cinderella study

Khair¹,

Pollard²,

Steadman³

et al. 2022

Haemophilia

View full text Add to dashboard Cite

show abstract

“…Similarly, in the study by Choi et al, only 10% of carriers of a wide range of X-linked conditions reported they had sufficient access to knowledgeable healthcare providers exploring symptoms and/or the risks associated with being a carrier. 8 Insufficient counselling was also evident through an audit of a private tertiary ophthalmology practice in Australia, whereby approximately 70% of clinical records did not document any counselling provided to patients with an IRD. 20 Whether this is due to clinical record documentation inaccuracies or is indicative of an area for improvement for clinicians remains unknown.…”

Section: Female Carriers' Genetic Testing Experiencesmentioning

confidence: 99%

“…8 The survey found that most of the women (54%) found out about their carrier status after having an affected child, even though a majority of respondents (83.2%) felt they already had relevant symptoms to their X-linked condition. 8 However, this study only had a single choroideremia carrier (0.7%) and no carriers of XLRP.…”

mentioning

confidence: 99%

Perspectives of carriers of X‐linked retinal diseases on genetic testing and gene therapy: A global survey

Gocuk,

Edwards,

Jolly

et al. 2023

Clinical Genetics

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Female carriers of X‐linked inherited retinal diseases (IRDs) are burdened with potentially passing their disease‐causing variant to future generations, as well as exhibiting signs of retinal disease themselves. This study aimed to investigate carriers' experiences of genetic testing, emotions relating to having affected children, and their knowledge regarding genetic testing and gene therapy. An online survey was advertised to self‐identified carriers worldwide. Two hundred and twenty‐eight carriers completed the survey with mean age of 51 years (SD ± 15.0). A majority of respondents resided in the United States of America (51%), Australia (19%), and the United Kingdom (14%). Most carriers identified with feelings of guilt (70%), concern (91%), and anxiety (88%) for their child. Female carriers who had given birth to children had significantly greater gene therapy knowledge compared to carriers who had not (p < 0.05). Respondents agreed that their eyecare provider and general practitioner helped them understand their condition (63%), however, few carriers reported receiving psychological counselling (9%) or family planning advice (5%). Most respondents (78%) agreed that gene therapy should be available to carriers. This study emphasises the importance of providing appropriate counselling to female carriers and illustrates the motivation of many to participate in emerging treatment options, such as gene therapy.

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“…The experience of females with ALD may be impacted considerably by their life stage at the time of diagnosis and the manner in which they learn about their status as having an X‐linked condition. A recent study of females with X‐linked conditions, including a high proportion of participants with ALD, found that many women (~90%) in this community felt that they had insufficient access to knowledgeable health care providers and medical information about their condition 99 . A high proportion indicated the desire for more comprehensive counseling regarding their risk for symptoms as well as increased access to research studies, treatments and reproductive methods.…”

Section: Females With Aldmentioning

confidence: 99%

Neurocognitive and mental health impact of adrenoleukodystrophy across the lifespan: Insights for the era of newborn screening

Pierpont

Isaia

McCoy

et al. 2022

J of Inher Metab Disea

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X-linked adrenoleukodystrophy (ALD) is a rare inherited neurological disorder that poses considerable challenges for clinical management throughout the lifespan. Although males are generally more severely affected than females, the time course and presentation of clinical symptoms are otherwise difficult to predict. Opportunities to improve outcomes for individuals with ALD are rapidly expanding due to the introduction of newborn screening programs for this condition and an evolving treatment landscape. The aim of this comprehensive review is to synthesize current knowledge regarding the neurocognitive and mental health effects of ALD. This review provides investigators and clinicians with context to improve case conceptualization, inform prognostic counseling, and optimize neuropsychological and mental health care for patients and their families. Results highlight key predictive factors and brainbehavior relationships associated with the diverse manifestations of ALD. The review also discusses considerations for endpoints within clinical trials and identifies gaps to address in future research.

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Not just carriers: experiences of X-linked female heterozygotes

Cited by 6 publications

References 26 publications

The views of women with bleeding disorders: Results from the Cinderella study

The views of women with bleeding disorders: Results from the Cinderella study

Perspectives of carriers of X‐linked retinal diseases on genetic testing and gene therapy: A global survey

Neurocognitive and mental health impact of adrenoleukodystrophy across the lifespan: Insights for the era of newborn screening

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