Uncertainties experienced by parents of children diagnosed with severe combined immunodeficiency through newborn screening
Individuals with severe combined immunodeficiency (SCID), a group of rare, genetic conditions, are at risk for life-threatening illnesses unless diagnosed and treated early. Even after early identification through newborn screening, parents of children with SCID embark on a complex journey marked by...
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| Veröffentlicht in: | European journal of human genetics : EJHG 2024-04, Vol.32 (4), p.392-398 |
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| container_title | European journal of human genetics : EJHG |
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| creator | Raspa, Melissa Kutsa, Oksana Andrews, Sara M Gwaltney, Angela Y Mallonee, Erin Creamer, Alissa Han, Paul K J Biesecker, Barbara B |
| description | Individuals with severe combined immunodeficiency (SCID), a group of rare, genetic conditions, are at risk for life-threatening illnesses unless diagnosed and treated early. Even after early identification through newborn screening, parents of children with SCID embark on a complex journey marked by a variety of informational and emotional support needs. This paper explored the types of uncertainties experienced by parents of a child with SCID diagnosed through newborn screening. We conducted semi-structured interviews with 26 parents to discuss the types of uncertainty experienced, including scientific, practical, personal, and existential. Each interview was recorded, transcribed, and coded. Using deductive and inductive content analysis, we describe the type of uncertainty experienced across each stage of the SCID journey. We found that uncertainties in the SCID journey were chronic and multifaceted. Some uncertainties were more prominent at certain points of the journey whereas others spanned multiple stages. Parents expressed a variety of negative emotional reactions to uncertainty, from anxiety, worry, and fear, to doubt, guilt, or grief, and even anger, frustration, and depression. The results speak to the need for healthcare providers to prepare parents for the SCID journey by providing resources to help manage and cope with uncertainty. |
| doi_str_mv | 10.1038/s41431-023-01345-5 |
| format | Article |
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Even after early identification through newborn screening, parents of children with SCID embark on a complex journey marked by a variety of informational and emotional support needs. This paper explored the types of uncertainties experienced by parents of a child with SCID diagnosed through newborn screening. We conducted semi-structured interviews with 26 parents to discuss the types of uncertainty experienced, including scientific, practical, personal, and existential. Each interview was recorded, transcribed, and coded. Using deductive and inductive content analysis, we describe the type of uncertainty experienced across each stage of the SCID journey. We found that uncertainties in the SCID journey were chronic and multifaceted. Some uncertainties were more prominent at certain points of the journey whereas others spanned multiple stages. Parents expressed a variety of negative emotional reactions to uncertainty, from anxiety, worry, and fear, to doubt, guilt, or grief, and even anger, frustration, and depression. The results speak to the need for healthcare providers to prepare parents for the SCID journey by providing resources to help manage and cope with uncertainty.</description><identifier>ISSN: 1018-4813</identifier><identifier>EISSN: 1476-5438</identifier><identifier>DOI: 10.1038/s41431-023-01345-5</identifier><identifier>PMID: 36973394</identifier><language>eng</language><publisher>England: Nature Publishing Group</publisher><subject>Child ; Emotions ; Frustration ; Humans ; Immune system ; Infant, Newborn ; Medical screening ; Neonatal Screening - methods ; Parents & parenting ; Parents - psychology ; Severe combined immunodeficiency ; Severe Combined Immunodeficiency - diagnosis ; Severe Combined Immunodeficiency - genetics ; Uncertainty</subject><ispartof>European journal of human genetics : EJHG, 2024-04, Vol.32 (4), p.392-398</ispartof><rights>2023. 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Parents expressed a variety of negative emotional reactions to uncertainty, from anxiety, worry, and fear, to doubt, guilt, or grief, and even anger, frustration, and depression. The results speak to the need for healthcare providers to prepare parents for the SCID journey by providing resources to help manage and cope with uncertainty.</description><subject>Child</subject><subject>Emotions</subject><subject>Frustration</subject><subject>Humans</subject><subject>Immune system</subject><subject>Infant, Newborn</subject><subject>Medical screening</subject><subject>Neonatal Screening - methods</subject><subject>Parents & parenting</subject><subject>Parents - psychology</subject><subject>Severe combined immunodeficiency</subject><subject>Severe Combined Immunodeficiency - diagnosis</subject><subject>Severe Combined Immunodeficiency - genetics</subject><subject>Uncertainty</subject><issn>1018-4813</issn><issn>1476-5438</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2024</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNpdUcFu1TAQtBAVLYUf4IAsceESamed2DkhVFFAqtQLPVu2s3lxldgPO2n7-Hr8-koFlQ9rz86OPDuEvOPsE2egzrLgAnjFaqgYB9FUzQtywoVsq0aAelnujKtKKA7H5HXON4yVpuSvyDG0nQToxAn5fR0cpsX4sHjMFO-3mDwWrKd2R7cmYVgyjQN1o5_68qK9N5sQcyHc-WWkGW8xIXVxtj4U0M_zGmKPg3d7nR1dxhTXzUgD3tmYAs0uIQYfNm_I0WCmjG8f6ym5vvj68_x7dXn17cf5l8vKFXdL5XiN0kI3GCjHNm1julr1TELrUABw11reOI5Da42TsmsGVYCOK2dF2Qqcks8H3e1qZ-xdcZTMpLfJzybtdDRe_98JftSbeKs5Y4J1wIrCx0eFFH-tmBc9--xwmkzAuGZdy64WnVSqLtQPz6g3cU2h-NNFSDBVS9iz6gPLpZhzwuHpN5zpfbb6kK0u2eqHbPXex_t_fTyN_A0T_gD0D6ML</recordid><startdate>20240401</startdate><enddate>20240401</enddate><creator>Raspa, Melissa</creator><creator>Kutsa, Oksana</creator><creator>Andrews, Sara M</creator><creator>Gwaltney, Angela Y</creator><creator>Mallonee, Erin</creator><creator>Creamer, Alissa</creator><creator>Han, Paul K J</creator><creator>Biesecker, Barbara B</creator><general>Nature Publishing Group</general><general>Springer International Publishing</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>8FD</scope><scope>FR3</scope><scope>K9.</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope><scope>5PM</scope><orcidid>https://orcid.org/0000-0001-9665-8963</orcidid><orcidid>https://orcid.org/0000-0003-3791-3367</orcidid></search><sort><creationdate>20240401</creationdate><title>Uncertainties experienced by parents of children diagnosed with severe combined immunodeficiency through newborn screening</title><author>Raspa, Melissa ; 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| subjects | Child Emotions Frustration Humans Immune system Infant, Newborn Medical screening Neonatal Screening - methods Parents & parenting Parents - psychology Severe combined immunodeficiency Severe Combined Immunodeficiency - diagnosis Severe Combined Immunodeficiency - genetics Uncertainty |
| title | Uncertainties experienced by parents of children diagnosed with severe combined immunodeficiency through newborn screening |
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