Genomic Imprinting Effects on Cognitive and Social Abilities in Prepubertal Girls with Turner Syndrome

Lepage, Jean‐François; Hong, David S.; Hallmayer, Joachim; Reiss, Allan L.

doi:10.1210/jc.2011-2916

Cited by 31 publications

(29 citation statements)

References 13 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Our simulation study shows that both proposed methods have empirical type I errors close to the nominal type I error, and they are more powerful than Q-C-XPAT under the alternative hypothesis with different parent-of-origin effect settings. In application, the two-sample t test is applied to the TS data set from Lepage et al [24]. The result is consistent with the result reported in Lepage et al [24] and the Q-C-XPAT test, but the t test gives a more significant finding than the Q-C-XPAT test.…”

Section: Introductionsupporting

confidence: 79%

“…In application, the two-sample t test is applied to the TS data set from Lepage et al [24]. The result is consistent with the result reported in Lepage et al [24] and the Q-C-XPAT test, but the t test gives a more significant finding than the Q-C-XPAT test.…”

Section: Introductionsupporting

confidence: 79%

“…We consider the TS data set from Lepage et al [24]. The data set contains the genotypic information and neuropsychological test results of 65 females with TS.…”

Section: Resultsmentioning

confidence: 99%

See 2 more Smart Citations

Two Powerful Tests for Parent-of-Origin Effects at Quantitative Trait Loci on the X Chromosome

et al. 2018

View full text Add to dashboard Cite

Parent-of-origin effects, which describe an occurrence where the expression of a gene depends on its parental origin, are an important phenomenon in epigenetics. Statistical methods for detecting parent-of-origin effects on autosomes have been investigated for 20 years, but the development of statistical methods for detecting parent-of-origin effects on the X chromosome is relatively new. In the literature, a class of Q-XPAT-type tests are the only tests for the parent-of-origin effects for quantitative traits on the X chromosome. In this paper, we propose two simple and powerful classes of tests to detect parent-of-origin effects for quantitative trait values on the X chromosome. The proposed tests can accommodate complete and incomplete nuclear families with any number of daughters. The simulation study shows that our proposed tests produce empirical type I error rates that are close to their respective nominal levels, as well as powers that are larger than those of the Q-XPAT-type tests. The proposed tests are applied to a real data set on Turner’s syndrome, and the proposed tests give a more significant finding than the Q-C-XPAT test.

show abstract

Section: Introductionsupporting

confidence: 79%

Section: Introductionsupporting

confidence: 79%

See 1 more Smart Citation

Two Powerful Tests for Parent-of-Origin Effects at Quantitative Trait Loci on the X Chromosome

et al. 2018

View full text Add to dashboard Cite

show abstract

“…Girls with TS exhibiting mosaic or uncommon structural karyotypes were excluded. Parental origin of the X chromosome was determined by comparison of amplification patterns of four polymorphic markers located exclusively on the X chromosome and one marker in the pseudo-autosomal region between the proband and mother (for details see past publication (Lepage et al, 2012)). Participants with TS were recruited with the assistance of the Turner Syndrome Society of the United States and the Turner Syndrome Foundation, a local network of physicians, and advertisement on the Stanford University School of Medicine website.…”

Section: Methodsmentioning

confidence: 99%

Elucidating X chromosome influences on Attention Deficit Hyperactivity Disorder and executive function

Green

Shrestha²,

Chromik³

et al. 2015

Journal of Psychiatric Research

Self Cite

View full text Add to dashboard Cite

Objective To identify distinct behavioral and cognitive profiles associated with ADHD in Turner syndrome (TS), relative to idiopathic ADHD and neurotypical controls, in order to elucidate X-linked influences contributing to ADHD. Methods We used a multilevel-model approach to compare 49 girls with TS to 37 neurotypical females, aged 5–12, on established measures of behavior (BASC-2) and neurocognitive function (NEPSY). We further compared girls with TS to BASC-2 and NEPSY age-matched reference data obtained from children with idiopathic ADHD. Results Within the TS group, 51% scored at or above the “at-risk” range for ADHD-associated behaviors on the BASC-2 (TS/+ADHD). The BASC-2 behavioral profile in this TS/+ADHD-subgroup was comparable to a reference group of boys with ADHD with respect to attentional problems and hyperactivity. However, the TS/+ADHD-subgroup had significantly higher hyperactivity scores relative to a reference sample of girls with ADHD (p=0.016). The behavioral profile in TS was associated with significantly lower attention and executive function scores on the NEPSY relative to neurotypical controls (p=0.015); but was comparable to scores from a reference sample of children with idiopathic ADHD. Deficits in attention and executive function were not observed in girls with TS having low levels of ADHD-associated behavior (TS/−ADHD). Conclusions ADHD-associated behavioral and cognitive problems in TS are prevalent and comparable in severity to those found in children with idiopathic ADHD. The ADHD phenotype in TS also appears relatively independent of cognitive features typically associated with TS, like visuospatial weaknesses. These findings suggest that X-linked haploinsufficiency and downstream biological effects contribute to increased risk for ADHD.

show abstract

“…Regarding central nervous system (CNS) morphology and function, including certain neuropsychological features, most studies described the differences between individuals who inherited a maternal or paternal X. Some studies described a more severe phenotype in subjects with a maternally derived X chromosome (75), although another study found no convincing effect of genomic imprinting on neurocognitive/socialization function, but rather reported a subtle difference in visual perceptual reasoning with lower scores in subjects with a paternal X chromosome (76).…”

Section: Postnatal Diagnosismentioning

confidence: 99%

Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting

Gravholt¹,

Andersen

Conway

et al. 2017

European Journal of Endocrinology

880

1,259

View full text Add to dashboard Cite

Turner syndrome affects 25-50 per 100,000 females and can involve multiple organs through all stages of life, necessitating multidisciplinary approach to care. Previous guidelines have highlighted this, but numerous important advances have been noted recently. These advances cover all specialty fields involved in the care of girls and women with TS. This paper is based on an international effort that started with exploratory meetings in 2014 in both Europe and the USA, and culminated with a Consensus Meeting held in Cincinnati, Ohio, USA in July 2016. Prior to this meeting, five groups each addressed important areas in TS care: 1) diagnostic and genetic issues, 2) growth and development during childhood and adolescence, 3) congenital and acquired cardiovascular disease, 4) transition and adult care, and 5) other comorbidities and neurocognitive issues. These groups produced proposals for the present guidelines. Additionally, four pertinent questions were submitted for formal GRADE (Grading of Recommendations, Assessment, Development and Evaluation) evaluation with a separate systematic review of the literature. These four questions related to the efficacy and most optimal treatment of short stature, infertility, hypertension, and hormonal replacement therapy. The guidelines project was initiated by the European Society of Endocrinology and the Pediatric Endocrine Society, in collaboration with the European Society for Paediatric Endocrinology, the Endocrine Society, the European Society of Human Reproduction and Embryology, the American Heart Association, the Society for Endocrinology, and the European Society of Cardiology. The guideline has been formally endorsed by the European Society of Endocrinology, the Pediatric Endocrine Society, the European Society for Paediatric Endocrinology, the European Society of Human Reproduction and Embryology and Summary of recommendationsThe recommendations (R) are worded as recommend (strong recommendation) and suggest (weak recommendation). We formally graded only the evidence underlying recommendations for therapeutic choices. The quality of evidence behind the recommendations is classified as very low (⨁◯◯◯), low (⨁⨁◯◯), moderate (⨁⨁⨁◯) and strong (⨁⨁⨁⨁). See further section 'Summary of methods used for guideline development'. Diagnosis and geneticsR 1.1. We recommend considering a diagnosis of TS in phenotypic females with a karyotype containing one X chromosome and complete or partial absence of the second sex chromosome, associated with one or more typical clinical manifestations of TS (⨁⨁⨁⨁). R 1.2. We recommend against considering a diagnosis of TS in females with one X chromosome and a deletion distal to Xq24 on the other X chromosome, and in women over the age of 50 years with less than 5% 45,X mosaicism (⨁⨁◯◯). R 1.3. We suggest that the new general surveillance management guideline applies to TS patients with any karyotype (⨁⨁◯◯). R 1.4. We recommend to consider testing for Turner syndrome (TS) in a female with typical signs (Table 2) (⨁⨁⨁⨁). R 1.5. We ...

show abstract

Genomic Imprinting Effects on Cognitive and Social Abilities in Prepubertal Girls with Turner Syndrome

Abstract: Overall, these results suggest that although some aspects of the neuropsychological profile of TS may be influenced by epigenetic factors, the sociocognitive phenotype associated with the disorder is not modulated by genomic imprinting.

Cited by 31 publications

References 13 publications

Two Powerful Tests for Parent-of-Origin Effects at Quantitative Trait Loci on the X Chromosome

Two Powerful Tests for Parent-of-Origin Effects at Quantitative Trait Loci on the X Chromosome

Elucidating X chromosome influences on Attention Deficit Hyperactivity Disorder and executive function

Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting

Contact Info

Product

Resources

About