title: Children with sex chromosome trisomies: parental disclosure of genetic status.
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.
authors: Department of Experimental Psychology, University of Oxford, Oxford, UK.
authors: Nikki C
authors: NC
authors: Gratton
authors: Department of Clinical Genetics, Oxford University Hospitals NHS Trust, Oxford, UK.
authors: Jessica
authors: J
authors: Myring
authors: Unique: Rare Chromosome Disorder Support Group, Caterham, Surrey, UK.
authors: Prisca
authors: P
authors: Middlemiss
authors: Department of Clinical Genetics, Oxford University Hospitals NHS Trust, Oxford, UK.
authors: Deborah
authors: D
authors: Shears
authors: Wessex Clinical Genetics Service, Southampton University NHS Trust, Southampton, UK.
authors: Diana
authors: D
authors: Wellesley
authors: Unique: Rare Chromosome Disorder Support Group, Caterham, Surrey, UK.
authors: Sarah
authors: S
authors: Wynn
authors: Department of Experimental Psychology, University of Oxford, Oxford, UK.
authors: Dorothy Vm
authors: DV
authors: Bishop
authors: Department of Experimental Psychology, University of Oxford, Oxford, UK.
authors: Gaia
authors: G
authors: Scerif
mesh_terms: D000293:Adolescent; D000328:Adult; D001290:Attitude; D002648:Child; D019988:Children with Disabilities / Q000523:psychology; D005260:Female; D006801:Humans; D008297:Male; D010290:Parents / Q000523:psychology*; D025064:Sex Chromosome Disorders / Q000235:genetics / Q000523:psychology*; D014314:Trisomy; D014342:Truth Disclosure