Long term outcome in children of sex chromosome abnormalities

Ratcliffe, S G

doi:10.1136/adc.80.2.192

Cited by 228 publications

(205 citation statements)

References 18 publications

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“…Our findings of difficulties in coping with social situations in XXY men, especially high levels of distress during social interactions, are consistent with reports of social anxiety, social withdrawal and shyness in individuals with the XXY karyotype (Bender et al 1999;Ratcliffe 1999). Difficulties in social adjustment have primarily been reported for children or adolescents with Klinefelter syndrome.…”

Section: Discussionsupporting

confidence: 89%

Social Behavior and Autism Traits in a Sex Chromosomal Disorder: Klinefelter (47XXY) Syndrome

Rijn

Swaab

Alemán

et al. 2008

J Autism Dev Disord

108

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Although Klinefelter syndrome (47,XXY) has been associated with psychosocial difficulties, knowledge of the social behavioral phenotype is limited. We examined specific social abilities and autism traits in Klinefelter syndrome. Scores of 31 XXY men on the Scale for Interpersonal Behavior and the Autism Spectrum Questionnaire were compared to 24 and 20 control men respectively. XXY men reported increased distress during social interactions and less engagement in specific social behaviors. In the XXY group, levels of autism traits were significantly higher across all dimensions of the autism phenotype. These findings call for a clinical investigation of vulnerability to autism in Klinefelter syndrome. Klinefelter syndrome might serve as a model for studying a role of the X chromosome in social behavioral dysfunction and autism-like behavior.

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Section: Discussionsupporting

confidence: 89%

Social Behavior and Autism Traits in a Sex Chromosomal Disorder: Klinefelter (47XXY) Syndrome

Rijn

Swaab

Alemán

et al. 2008

J Autism Dev Disord

108

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“…The relatively small amount of information available from population-based studies indicate that individuals with SCT are at increased risk of educational failure and neurodevelopmental disorder, with mean IQ broadly within the normal limits but reduced 10-20 points when compared with siblings; the biggest reduction in IQ being associated with XXX females. 5,[7][8][9][10] Some SCT cases are identified by chance prenatally when karyotyping is performed for different reasons, 11 for example, after a higher risk Down's syndrome screening test. Parents are then faced with the knowledge that their baby has a condition about which there is a lack of information available from unbiased studies.…”

Section: Introductionmentioning

confidence: 99%

“…4 In contrast to the effect of an extra autosome, the effect of an extra sex chromosome is usually mild and most of the individuals born with one never get diagnosed. 5,6 SCTs together represent the most common chromosome abnormalities compatible with live birth, a usually normal lifespan and few, if any dysmorphic features. Although major physical anomalies are not associated with SCTs, men with XXY are infertile.…”

Section: Introductionmentioning

confidence: 99%

Sex chromosome trisomies in Europe: prevalence, prenatal detection and outcome of pregnancy

Boyd

Loane²,

Garne

et al. 2010

Eur J Hum Genet

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This study aims to assess prevalence and pregnancy outcome for sex chromosome trisomies (SCTs) diagnosed prenatally or in the first year of life. Data held by the European Surveillance of Congenital Anomalies (EUROCAT) database on SCT cases delivered 2000-2005 from 19 population-based registries in 11 European countries covering 2.5 million births were analysed. Cases included were livebirths diagnosed to 1 year of age, fetal deaths from 20 weeks gestation and terminations of pregnancy for fetal anomaly (TOPFA). In all, 465 cases of SCT were diagnosed between 2000 and 2005, a prevalence of 1.88 per 10,000 births (95% CI 1.71-2.06). Prevalence of XXX, XXY and XYY were 0.54 (95% CI 0.46-0.64), 1.04 (95% CI 0.92-1.17) and 0.30 (95% CI 0.24-0.38), respectively. In all, 415 (89%) were prenatally diagnosed and 151 (36%) of these resulted in TOPFA. There was wide country variation in prevalence (0.19-5.36 per 1000), proportion prenatally diagnosed (50-100%) and proportion of prenatally diagnosed resulting in TOPFA (13-67%). Prevalence of prenatally diagnosed cases was higher in countries with high prenatal detection rates of Down syndrome. The EUROCAT prevalence rate for SCTs diagnosed prenatally or up to 1 year of age represents 12% of the prevalence expected from cytogenetic studies of newborn babies, as the majority of cases are never diagnosed or are diagnosed later in life. There is a wide variation between European countries in prevalence, prenatal detection and TOPFA proportions, related to differences in screening policies as well as organizational and cultural factors.

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“…10 Several newborn screening studies were carried out in the 1960s to investigate outcomes in children with SCTs in samples unbiased by concerns prior to referral. [11][12][13][14] These longitudinal studies followed children who were diagnosed perinatally with an SCT into adulthood. 15 Although these studies reported educational and behavioural difficulties, they also suggested a much less gloomy outlook.…”

Section: Introductionmentioning

confidence: 99%

Children with sex chromosome trisomies: parental disclosure of genetic status

Gratton

Myring

Middlemiss³

et al. 2015

Eur J Hum Genet

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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.

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Long term outcome in children of sex chromosome abnormalities

Cited by 228 publications

References 18 publications

Social Behavior and Autism Traits in a Sex Chromosomal Disorder: Klinefelter (47XXY) Syndrome

Social Behavior and Autism Traits in a Sex Chromosomal Disorder: Klinefelter (47XXY) Syndrome

Sex chromosome trisomies in Europe: prevalence, prenatal detection and outcome of pregnancy

Children with sex chromosome trisomies: parental disclosure of genetic status

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