The University of Southampton
University of Southampton Institutional Repository

Children with sex chromosome trisomies: parental disclosure of genetic status

Children with sex chromosome trisomies: parental disclosure of genetic status
Children with sex chromosome trisomies: parental disclosure of genetic status
Sex chromosome trisomies (SCTs) are frequently diagnosed, both prenatally and postnatally, but the highly variable childhood outcomes can leave parents at a loss on whether, when and how to disclose genetic status. In two complementary studies, we detail current parental practices, with a view to informing parents and their clinicians. Study 1 surveyed detailed qualitative data from focus groups of parents and affected young people with either Trisomy X or XYY (N=34 families). These data suggested that decisions to disclose were principally affected by the child’s level of cognitive, social and emotional functioning. Parents reported that they were more likely to disclose when a child was experiencing difficulties. In Study 2, standardised data on cognitive, social and emotional outcomes in 126 children with an SCT and 63 sibling controls highlighted results that converged with Study 1: logistic regression analyses revealed that children with the lowest levels of functioning were more likely to know about their SCT than those children functioning at a higher level. These effects were also reflected in the likelihood of parents to disclose to unaffected siblings, schools and general practitioners. In contrast, specific trisomy type and the professional category of the clinician providing the original diagnosis did not affect likelihood of disclosure. Our study emphasises the complex weighing up of costs and benefits that parents engage in when deciding whether to disclose a diagnosis.
1018-4813
638-644
Gratton, Nikki C.
5942bc69-1536-440b-9292-629b9d11ea88
Myring, Jessica
a8a334ac-5718-4c76-a282-7ec730c33e49
Middlemiss, Prisca
2290801a-837a-4bec-a65f-3a0788abf8bc
Shears, Deborah
aa7e9f84-f354-479d-a749-fd12064abae9
Wellesley, Diana
17cbd6c1-0efb-4df1-ae05-64a44987c9c0
Wynn, Sarah
263ed2fb-ad7d-423f-808d-547c40d3835e
Bishop, Dorothy V.M.
a4f2115b-83a7-446b-86ee-8960a8ceaddb
Scerif, Gaia
d9bee82b-ba56-4f4f-b0dc-73147fadffdb
Gratton, Nikki C.
5942bc69-1536-440b-9292-629b9d11ea88
Myring, Jessica
a8a334ac-5718-4c76-a282-7ec730c33e49
Middlemiss, Prisca
2290801a-837a-4bec-a65f-3a0788abf8bc
Shears, Deborah
aa7e9f84-f354-479d-a749-fd12064abae9
Wellesley, Diana
17cbd6c1-0efb-4df1-ae05-64a44987c9c0
Wynn, Sarah
263ed2fb-ad7d-423f-808d-547c40d3835e
Bishop, Dorothy V.M.
a4f2115b-83a7-446b-86ee-8960a8ceaddb
Scerif, Gaia
d9bee82b-ba56-4f4f-b0dc-73147fadffdb

Gratton, Nikki C., Myring, Jessica, Middlemiss, Prisca, Shears, Deborah, Wellesley, Diana, Wynn, Sarah, Bishop, Dorothy V.M. and Scerif, Gaia (2016) Children with sex chromosome trisomies: parental disclosure of genetic status. European Journal of Human Genetics, 24 (5), 638-644. (doi:10.1038/ejhg.2015.168). (PMID:26306644)

Record type: Article

Abstract

Sex chromosome trisomies (SCTs) are frequently diagnosed, both prenatally and postnatally, but the highly variable childhood outcomes can leave parents at a loss on whether, when and how to disclose genetic status. In two complementary studies, we detail current parental practices, with a view to informing parents and their clinicians. Study 1 surveyed detailed qualitative data from focus groups of parents and affected young people with either Trisomy X or XYY (N=34 families). These data suggested that decisions to disclose were principally affected by the child’s level of cognitive, social and emotional functioning. Parents reported that they were more likely to disclose when a child was experiencing difficulties. In Study 2, standardised data on cognitive, social and emotional outcomes in 126 children with an SCT and 63 sibling controls highlighted results that converged with Study 1: logistic regression analyses revealed that children with the lowest levels of functioning were more likely to know about their SCT than those children functioning at a higher level. These effects were also reflected in the likelihood of parents to disclose to unaffected siblings, schools and general practitioners. In contrast, specific trisomy type and the professional category of the clinician providing the original diagnosis did not affect likelihood of disclosure. Our study emphasises the complex weighing up of costs and benefits that parents engage in when deciding whether to disclose a diagnosis.

Full text not available from this repository.

More information

Accepted/In Press date: 25 June 2015
e-pub ahead of print date: 26 August 2015
Published date: May 2016
Organisations: Human Development & Health

Identifiers

Local EPrints ID: 404756
URI: http://eprints.soton.ac.uk/id/eprint/404756
ISSN: 1018-4813
PURE UUID: ae81ceb3-9504-4983-82a9-72de6de71f8e

Catalogue record

Date deposited: 17 Jan 2017 17:09
Last modified: 15 Jul 2019 19:45

Export record

Altmetrics

Contributors

Author: Nikki C. Gratton
Author: Jessica Myring
Author: Prisca Middlemiss
Author: Deborah Shears
Author: Diana Wellesley
Author: Sarah Wynn
Author: Dorothy V.M. Bishop
Author: Gaia Scerif

University divisions

Download statistics

Downloads from ePrints over the past year. Other digital versions may also be available to download e.g. from the publisher's website.

View more statistics

Atom RSS 1.0 RSS 2.0

Contact ePrints Soton: eprints@soton.ac.uk

ePrints Soton supports OAI 2.0 with a base URL of http://eprints.soton.ac.uk/cgi/oai2

This repository has been built using EPrints software, developed at the University of Southampton, but available to everyone to use.

We use cookies to ensure that we give you the best experience on our website. If you continue without changing your settings, we will assume that you are happy to receive cookies on the University of Southampton website.

×