A Qualitative Study to Explore the Views and Attitudes towards Prenatal Testing in Adults Who Have Muenke Syndrome and their Partners

Phipps, Julie; Skirton, Heather

doi:10.1007/s10897-017-0094-7

Cited by 6 publications

(3 citation statements)

References 59 publications

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“…For most participants, the recurrence risk of craniosynostosis was a cause for concern in relation to starting a family. This has also been identified in other studies, particularly in the case of syndromic diagnoses ( O’Hanlon et al, 2012 ; Phipps and Skirton, 2017 ) and may offer some explanation for the observed higher rate of childlessness within the sample. Current understanding of the genetic and environmental causes of craniosynostosis also remains limited, and therefore so does the information available to young adults ( Wilkie et al, 2017 ).…”

Section: Discussionsupporting

confidence: 82%

Psychological and Physical Health Outcomes in Adults With Craniosynostosis

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Costa

Wilkinson-Bell³

et al. 2021

The Cleft Palate Craniofacial Journal

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Objectives Within current research, little is known about the long-term outcomes of craniosynostosis. A priority-setting exercise by UK charity Headlines Craniofacial Support identified 2 key questions in this area: (1) What are the long-term physical and psychological effects for individuals with syndromic and non-syndromic craniosynostosis? and (2) Are individuals with craniosynostosis likely to suffer from mental health difficulties, or are they more resilient? The aim of the current study was to conduct an initial investigation of these priority questions. Methods A comprehensive UK-wide survey consisting of 9 standardized psychological outcome measures and open-ended questions was distributed online. Thirty-six eligible adults (69.4% female) with a mean age of 30.8 years responded to the survey. Participants reported having single suture craniosynostosis (27.8%) or syndromic craniosynostosis (52.8%), with 19.4% being unsure of their diagnosis. Sample means were compared to published norms using independent samples t tests. Qualitative responses were analysed using inductive content analysis. Results Compared to the general population, participants reported significantly less favorable scores related to appearance concerns, attachment in adult relationships, anxiety, optimism, and resilience. Self-worth, depression, and social anxiety scores were similar to norms. Qualitative responses provided additional insight into participants’ satisfaction with appearance, physical health, medical treatment, employment, relationships, and recurrence risks. Few participants had accessed psychological support. Discussion This preliminary study illustrates the potential long-term implications for individuals with craniosynostosis. Improved treatment protocols are needed to address physical health concerns in adulthood, while dedicated psychological resources are necessary to promote emotional well-being, social confidence, and resilience.

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Section: Discussionsupporting

confidence: 82%

Psychological and Physical Health Outcomes in Adults With Craniosynostosis

Stock

Costa

Wilkinson-Bell³

et al. 2021

The Cleft Palate Craniofacial Journal

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“…The results of the MLPA analysis performed helped us to select the exon for DNA sequencing saving time and financial resources. Confirmation through Sanger sequencing of the associated mutation is essential for proper clinical management for optimal care (for example, neurodevelopment evaluation, screening for neurosensorial hearing loss, ophthalmologic evaluation) and genetic counseling of the family with estimation of recurrence risk for future pregnancies and testing other family members at risk (20).…”

Section: Discussionmentioning

confidence: 99%

The utility of molecular genetic techniques in craniosynostosis cases associated with intellectual disability

Bogliș

Tripon

Bănescu

2018

Revista Romana De Medicina De Laborator

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Molecular genetic testing in craniosynostosis leads to the detection of the mutations in the genes encoding fibroblast growth factor receptors (FGFR), providing information about the etiology of the genetic disorder. Muenke syndrome is produced by p.Pro250Arg mutation in FGFR3 gene with evidence of variable expressivity, representing 8% of the syndromic craniosynostoses. Here, we present the identification of a p.Pro250Arg pathogenic mutation (c.749C>G) in the FGFR3 gene using Multiplex Ligation-dependent Probes Amplification (MLPA) analysis in conjunction with Sanger sequencing in a patient with craniosynostosis and mild intellectual disability. The MLPA analysis detected a reduced signal of the probe, at the site of the c.749C>G mutation, defined by the presence of one allele of C749>G mutation in the FGFR3 gene, exon 7. Sanger sequencing was performed for confirmation and identified heterozygous p.Pro250Arg pathogenic variant (c.749C>G) in exon 7 of the FGFR3. In conclusion, we assessed the validity and clinical utility of the combined molecular genetic techniques, MLPA analysis, and Sanger sequencing, for craniosynostosis and intellectual disability, improving not only the diagnostic testing but also the genetic counseling and management of the disorder.

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“…Similarly, in another qualitative study, published by Phipps et al , participants undergoing prenatal testing for Muenke disease shared their apprehensions regarding sharing the information about diagnosis with family and friends. The fear of stigmatization was observed to be overwhelming ( Phipps and Skirton, 2017 ).…”

Section: Barriers To Rare Disease Diagnosismentioning

confidence: 99%

Stigma associated with genetic testing for rare diseases—causes and recommendations

Baynam,

Gomez,

Jain

2024

Front. Genet.

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Rare disease (RD) is a term used to describe numerous, heterogeneous diseases that are geographically disparate. Approximately 400 million people worldwide live with an RD equating to roughly 1 in 10 people, with 71.9% of RDs having a genetic origin. RDs present a distinctive set of challenges to people living with rare diseases (PLWRDs), their families, healthcare professionals (HCPs), healthcare system, and societies at large. The possibility of inheriting a genetic disease has a substantial social and psychological impact on affected families. In addition to other concerns, PLWRDs and their families may feel stigmatized, experience guilt, feel blamed, and stress about passing the disease to future generations. Stigma can affect all stages of the journey of PLWRDs and their families, from pre-diagnosis to treatment access, care and support, and compliance. It adversely impacts the quality of life of RD patients. To better explore the impact of stigma associated with genetic testing for RDs, we conducted a literature search on PubMed and Embase databases to identify articles published on stigma and RDs from January 2013 to February 2023. There is a dearth of literature investigating the dynamics of stigma and RD genetic testing. The authors observed that the research into the implications of stigma for patient outcomes in low- and middle-income countries (LMICs) and potential interventions is limited. Herein, the authors present a review of published literature on stigma with a focus on RD genetic testing, the associated challenges, and possible ways to address these.

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A Qualitative Study to Explore the Views and Attitudes towards Prenatal Testing in Adults Who Have Muenke Syndrome and their Partners

Cited by 6 publications

References 59 publications

Psychological and Physical Health Outcomes in Adults With Craniosynostosis

Psychological and Physical Health Outcomes in Adults With Craniosynostosis

The utility of molecular genetic techniques in craniosynostosis cases associated with intellectual disability

Stigma associated with genetic testing for rare diseases—causes and recommendations

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