A holistic approach to fragile X syndrome integrated guidance for person‐centred care

Johnson, Kirsten; Stanfield, Andrew C.; Scerif, Gaia; McKechanie, Andrew; Clarke, Angus; Herring, Jonathan; Smith, Kayla; Crawford, Hayley

doi:10.1111/jar.13214

Cited by 3 publications

(1 citation statement)

References 66 publications

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“…What should happen if the list of pathogenic variants is updated? Could "actionable" conditions such as Fragile X syndrome be added to newborn screening programs [53]? The Fragile X community has expressed a desire for newborn screening.…”

Section: Challenges In Neonatal Screening: Maintaining a High-quality...mentioning

confidence: 99%

Genetic Screening—Emerging Issues

Cornel,

van der Meij,

van El

et al. 2024

Genes

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In many countries, some form of genetic screening is offered to all or part of the population, either in the form of well-organized screening programs or in a less formalized way. Screening can be offered at different phases of life, such as preconception, prenatal, neonatal and later in life. Screening should only be offered if the advantages outweigh the disadvantages. Technical innovations in testing and treatment are driving changes in the field of prenatal and neonatal screening, where many jurisdictions have organized population-based screening programs. As a result, a greater number and wider range of conditions are being added to the programs, which can benefit couples’ reproductive autonomy (preconception and prenatal screening) and improve early diagnosis to prevent irreversible health damage in children (neonatal screening) and in adults (cancer and cascade screening). While many developments in screening are technology-driven, citizens may also express a demand for innovation in screening, as was the case with non-invasive prenatal testing. Relatively new emerging issues for genetic screening, especially if testing is performed using DNA sequencing, relate to organization, data storage and interpretation, benefit–harm ratio and distributive justice, information provision and follow-up, all connected to acceptability in current healthcare systems.

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Section: Challenges In Neonatal Screening: Maintaining a High-quality...mentioning

confidence: 99%

Genetic Screening—Emerging Issues

Cornel,

van der Meij,

van El

et al. 2024

Genes

View full text Add to dashboard Cite

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Prevalence and implications of fragile X premutation screening in Thailand

Hnoonual,

Kaewfai,

Limwongse

et al. 2024

Sci Rep

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The joys of fragile X: Understanding the strengths of fragile X and delivering a diagnosis in a helpful, holistic way

Herring,

Johnson,

Scerif

et al. 2024

Neurodiversity

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The purpose of this article is to provide a positive framework for a doctor, geneticist, genetic counsellor or other professional to deliver a fragile X syndrome diagnosis and to offer support thereafter. Our aim is not to glamourise the condition nor downplay its impacts but rather to suggest that a more accurate and holistic definition of fragile X syndrome would cover all the aspects of the condition, including its variability and positive aspects. Fragile X syndrome is commonly described in terms of the ‘problems’ associated with it and stigmatic language is used. Instead, we believe that giving diagnosis and support in a holistic and family-centred way is imperative. In delivering a fragile X syndrome diagnosis, the strengths of those living with fragile X syndrome should be the starting point, encouraging development that builds on those strengths while supporting the areas of need. This article will set out these more positive aspects of fragile X syndrome to assist those providing a diagnosis of fragile X syndrome. Lay abstract The purpose of this article is to provide a positive framework for a doctor, geneticist, genetic counsellor or other professional to deliver a fragile X syndrome (FXS) diagnosis and offer support. Our aim is to give a more accurate and holistic definition of FXS. This would cover all the aspects of the condition, including its variability and positive aspects. FXS is commonly described in terms of the ‘problems’ associated with it and stigmatic language is used. Instead, we believe that giving diagnosis and support in a holistic and family-centred way is important. In delivering a FXS diagnosis, the strengths of those living with FXS should be the starting point. These strengths should be built on at the same time as supporting areas of need.

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A holistic approach to fragile X syndrome integrated guidance for person‐centred care

Cited by 3 publications

References 66 publications

Genetic Screening—Emerging Issues

Genetic Screening—Emerging Issues

Prevalence and implications of fragile X premutation screening in Thailand

The joys of fragile X: Understanding the strengths of fragile X and delivering a diagnosis in a helpful, holistic way

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