Communication about spinal muscular atrophy and genetic risk within families: An Australian pilot study.

Pieper, E; Sexton, A; Ryan, MM; Forbes, R

Communication about spinal muscular atrophy and genetic risk within families: An Australian pilot study.

Pieper, E Sexton, A

Ryan, MM Forbes, R

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Publisher:: WILEY
Publication Type:: Journal Article
Citation:: J Paediatr Child Health, 2020, 56, (8), pp. 1263-1269
Issue Date:: 2020-08

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Field	Value	Language
dc.contributor.author	Pieper, E
dc.contributor.author	Sexton, A https://orcid.org/0000-0001-8749-1639
dc.contributor.author	Ryan, MM
dc.contributor.author	Forbes, R
dc.date.accessioned	2022-10-31T00:04:19Z
dc.date.available	2020-04-06
dc.date.available	2022-10-31T00:04:19Z
dc.date.issued	2020-08
dc.identifier.citation	J Paediatr Child Health, 2020, 56, (8), pp. 1263-1269
dc.identifier.issn	1034-4810
dc.identifier.issn	1440-1754
dc.identifier.uri	http://hdl.handle.net/10453/163001
dc.description.abstract	AIM: In families with a child diagnosed with spinal muscular atrophy (SMA), siblings who do not have SMA could still be genetic carriers of the condition. This study is the first to explore how siblings of patients with SMA learn about the condition and their genetic risk. METHOD: In-depth, semi-structured interviews were conducted with several parents and unaffected siblings of people with SMA types II and III in Australia. Thematic analysis was performed. RESULTS: Siblings described learning about SMA gradually over time through conversations with their parents and other sources, including the Internet, biology classes and support groups. Parents and unaffected siblings described challenges in family communication due to the emotional intensity associated with having SMA in the family. Most siblings did not report learning from their family how the inheritance of SMA related to their own genetic carrier risk and possible reproductive implications. CONCLUSION: Siblings described their parents as being open and honest in communicating about SMA; however, this study found that communication before the age of understanding abstract concepts, in combination with the emotional intensity of SMA, resulted in gaps in knowledge about SMA.
dc.format	Print-Electronic
dc.language	eng
dc.publisher	WILEY
dc.relation.ispartof	J Paediatr Child Health
dc.relation.isbasedon	10.1111/jpc.14915
dc.rights	info:eu-repo/semantics/closedAccess
dc.subject	1103 Clinical Sciences, 1114 Paediatrics and Reproductive Medicine, 1117 Public Health and Health Services
dc.subject.classification	Pediatrics
dc.subject.mesh	Australia
dc.subject.mesh	Child
dc.subject.mesh	Communication
dc.subject.mesh	Humans
dc.subject.mesh	Muscular Atrophy, Spinal
dc.subject.mesh	Parents
dc.subject.mesh	Pilot Projects
dc.subject.mesh	Humans
dc.subject.mesh	Muscular Atrophy, Spinal
dc.subject.mesh	Pilot Projects
dc.subject.mesh	Communication
dc.subject.mesh	Parents
dc.subject.mesh	Child
dc.subject.mesh	Australia
dc.title	Communication about spinal muscular atrophy and genetic risk within families: An Australian pilot study.
dc.type	Journal Article
utslib.citation.volume	56
utslib.location.activity	Australia
utslib.for	1103 Clinical Sciences
utslib.for	1114 Paediatrics and Reproductive Medicine
utslib.for	1117 Public Health and Health Services
pubs.organisational-group	/University of Technology Sydney
pubs.organisational-group	/University of Technology Sydney/Faculty of Health
pubs.organisational-group	/University of Technology Sydney/Faculty of Health/Graduate School of Health
pubs.organisational-group	/University of Technology Sydney/Faculty of Health/Graduate School of Health/GSH.Genetic Counselling
utslib.copyright.status	closed_access	*
dc.date.updated	2022-10-31T00:04:18Z
pubs.issue	8
pubs.publication-status	Published
pubs.volume	56
utslib.citation.issue	8

Abstract:

AIM: In families with a child diagnosed with spinal muscular atrophy (SMA), siblings who do not have SMA could still be genetic carriers of the condition. This study is the first to explore how siblings of patients with SMA learn about the condition and their genetic risk. METHOD: In-depth, semi-structured interviews were conducted with several parents and unaffected siblings of people with SMA types II and III in Australia. Thematic analysis was performed. RESULTS: Siblings described learning about SMA gradually over time through conversations with their parents and other sources, including the Internet, biology classes and support groups. Parents and unaffected siblings described challenges in family communication due to the emotional intensity associated with having SMA in the family. Most siblings did not report learning from their family how the inheritance of SMA related to their own genetic carrier risk and possible reproductive implications. CONCLUSION: Siblings described their parents as being open and honest in communicating about SMA; however, this study found that communication before the age of understanding abstract concepts, in combination with the emotional intensity of SMA, resulted in gaps in knowledge about SMA.

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http://hdl.handle.net/10453/163001