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2019-01-18

Changes in the cohort composition of turner syndrome and severe non-diagnosis of Klinefelter, 47,XXX and 47,XYY syndrome: a nationwide cohort study.

Orphanet J Rare Dis. 2019 Jan 14;14(1):16. doi: 10.1186/s13023-018-0976-2.

Changes in the cohort composition of turner syndrome and severe non-diagnosis of Klinefelter, 47,XXX and 47,XYY syndrome: a nationwide cohort study.

Berglund A1,2, Viuff MH3,4, Skakkebæk A3,5, Chang S6,7, Stochholm K3,8, Gravholt CH3,4.

Author information デンマーク


Abstract

BACKGROUND:

Knowledge on the prevalence of sex chromosome abnormalities (SCAs) is limited, and delayed diagnosis or non-diagnosis of SCAs are a continuous concern. We aimed to investigate change over time in incidence, prevalence and age at diagnosis among Turner syndrome (TS), Klinefelter syndrome (KS), Triple X syndrome (Triple X) and Double Y syndrome (Double Y).

METHODS:

This study is a nationwide cohort study in a public health care system. The Danish Cytogenetic Central Registry (DCCR) holds information on all karyotypes performed in Denmark since 1961. We identified all individuals in the DCCR with a relevant SCA during 1961-2014; TS: n = 1156; KS: n = 1235; Triple X: n = 197; and Double Y: n = 287. From Statistics Denmark, which holds an extensive collection of data on the Danish population, complete data concerning dates of death and migrations in and out of Denmark were retrieved for all individuals.

RESULTS:

The prevalence among newborns was as follows: TS: 59 per 100,000 females; KS: 57 per 100,000 males; Triple X: 11 per 100,000 females; and Double Y: 18 per 100,000 males. Compared with the expected number among newborns, all TS, 38% of KS, 13% of Triple X, and 18% of Double Y did eventually receive a diagnosis. The incidence of TS with other karyotypes than 45,X (P < 0.0001), KS (P = 0.02), and Double Y (P = 0.03) increased during the study period whereas the incidence of 45,X TS decreased (P = 0.0006). The incidence of Triple X was stable (P = 0.22).

CONCLUSIONS:

The prevalence of TS is higher than previously identified, and the karyotypic composition of the TS population is changing. Non-diagnosis is extensive among KS, Triple X and Double Y, whereas all TS seem to become diagnosed. The diagnostic activity has increased among TS with other karyotypes than 45,X as well as among KS and Double Y.


KEYWORDS:

Age at diagnosis; Double Y syndrome; Incidence; Klinefelter syndrome; Prevalence; Triple X syndrome; Turner syndrome

2018-11-11

Social skills and relationships in Turner syndrome.

Curr Opin Psychiatry. 2018 Nov 6. doi: 10.1097/YCO.0000000000000472. [Epub ahead of print]

Social skills and relationships in Turner syndrome.

Wolstencroft J1, Skuse D.

Author information
1UCL GOS Institute of Child Health, London, UK.

Abstract

PURPOSE OF REVIEW:

Summarize the literature on the social skills and relationships of women with Turner syndrome and examine the biological and psychological factors that may contribute to social interaction difficulties.

RECENT FINDINGS:

Turner syndrome is often associated with impaired social-cognitive processing and executive function deficits. These cognitive abnormalities, together with a range of physical differences, may adversely affect social communication skills, which typically begin to impair quality of life during early adolescence. Parental accounts of their daughter's social skills frequently highlight interaction problems, both in the home and beyond; in contrast, self-reports are usually far more positive. At present, we do not know the extent to which such self-reports reflect a lack of social awareness, or a lack of concern about social difficulties.

SUMMARY:

Women with Turner syndrome are likely to experience social interaction challenges (especially in friendships and relationships) across the lifespan. Providing appropriate guidance and support to them demands a better understanding of their strengths and weaknesses.

2018-08-23

Sex differences in psychiatric disorders: what we can learn from sex chromosome aneuploidies.

Neuropsychopharmacology. 2018 Jul 16. doi: 10.1038/s41386-018-0153-2. [Epub ahead of print]

Sex differences in psychiatric disorders: what we can learn from sex chromosome aneuploidies.

Green T1,2, Flash S3, Reiss AL3,4,5.



Author information

1Center for Interdisciplinary Brain Sciences Research, Stanford University, Stanford, CA, 94305, USA. tgreen2@stanford.edu.
2Department of Psychiatry and Behavioral Sciences, Stanford University, Stanford, CA, 94305, USA. tgreen2@stanford.edu.
3Center for Interdisciplinary Brain Sciences Research, Stanford University, Stanford, CA, 94305, USA.
4Department of Psychiatry and Behavioral Sciences, Stanford University, Stanford, CA, 94305, USA.
5Department of Radiology, Stanford University, Stanford, CA, 94305, USA.

Abstract

The study of sexual dimorphism in psychiatric and neurodevelopmental disorders is challenging due to the complex interplay of diverse biological, psychological, and social factors. Males are more susceptible to neurodevelopmental disorders including intellectual disability, autism spectrum disorder, and attention-deficit activity disorder. Conversely, after puberty, females are more prone to major depressive disorder and anxiety disorders compared to males. One major biological factor contributing to sex differences is the sex chromosomes. First, the X and Y chromosomes have unique and specific genetic effects as well as downstream gonadal effects. Second, males have one X chromosome and one Y chromosome, while females have two X chromosomes. Thus, sex chromosome constitution also differs between the sexes. Due to this complexity, determining genetic and downstream biological influences on sexual dimorphism in humans is challenging. Sex chromosome aneuploidies, such as Turner syndrome (X0) and Klinefelter syndrome (XXY), are common genetic conditions in humans. The study of individuals with sex chromosome aneuploidies provides a promising framework for studying sexual dimorphism in neurodevelopmental and psychiatric disorders. Here we will review and contrast four syndromes caused by variation in the number of sex chromosomes: Turner syndrome, Klinefelter syndrome, XYY syndrome, and XXX syndrome. Overall we describe an increased rate of attention-deficit hyperactivity disorder and autism spectrum disorder, along with the increased rates of major depressive disorder and anxiety disorders in one or more of these conditions. In addition to contributing unique insights about sexual dimorphism in neuropsychiatric disorders, awareness of the increased risk of neurodevelopmental and psychiatric disorders in sex chromosome aneuploidies can inform appropriate management of these common genetic disorders

2018-05-20

Overview of Social Cognitive Dysfunctions in Rare Developmental Syndromes With Psychiatric Phenotype.

Front Pediatr. 2018 May 3;6:102. doi: 10.3389/fped.2018.00102. eCollection 2018.
https://www.frontiersin.org/articles/10.3389/fped.2018.00102/full:title=
Overview of Social Cognitive Dysfunctions in Rare Developmental Syndromes With Psychiatric Phenotype.]

Morel A1, Peyroux E2, Leleu A3, Favre E4, Franck N5, Demily C4.

Author information

1 Scientific Brain Training, Reference Center for Rare Diseases GénoPsy, CH Le Vinatier, UMR 5229, Université Lyon 1, CNRS, Lyon, France.
2 Reference Center for Rare Diseases GénoPsy, SUR/CL3R: Service Universitaire de Réhabilitation, CH Le Vinatier, UMR 5229, Université Lyon 1, CNRS, Lyon, France.
3 Centre des Sciences du Goût et de l'Alimentation, AgroSup Dijon, INRA, Université Bourgogne Franche-Comté, CNRS, Dijon, France.
4 Reference Center for Rare Diseases GénoPsy, CH Le Vinatier, UMR 5229, Université Lyon 1, CNRS, Lyon, France.
5 Centre ressource de réhabilitation psychosociale et de remédiation cognitive, CH Le Vinatier, Lyon et UMR 5229 (CNRS and Université Lyon), Lyon, France.

Abstract

Rare neurodevelopmental syndromes often present social cognitive deficits that may underlie difficulties in social interactions and increase the risk of psychosis or autism spectrum disorders. However, little is known regarding the specificities of social cognitive impairment across syndromes while it remains a major challenge for the care. Our review provides an overview of social cognitive dysfunctions in rare diseases associated with psychiatric symptoms (with a prevalence estimated between 1 in 1,200 and 1 in 25,000 live births: 22q11.2 deletion syndrome, Angelman syndrome, Fragile X syndrome, Klinefelter syndrome, Prader-Willi syndrome, Rett syndrome, Smith-Magenis syndrome, Turner syndrome, and Williams syndrome) and shed some light on the specific mechanisms that may underlie these skills in each clinical presentation. We first detail the different processes included in the generic expression "social cognition" before summarizing the genotype, psychiatric phenotype, and non-social cognitive profile in each syndrome. Then, we offer a systematic review of the social cognitive abilities and the disturbed mechanisms they are likely associated with. We followed the PRISMA process, including the definition of the relevant search terms, the selection of studies based on clear inclusion, and exclusion criteria and the quality appraisal of papers. We finally provide insights that may have considerable influence on the development of adapted therapeutic interventions such as social cognitive training (SCT) therapies specifically designed to target the psychiatric phenotype. The results of this review suggest that social cognition impairments share some similarities across syndromes. We propose that social cognitive impairments are strongly involved in behavioral symptoms regardless of the overall cognitive level measured by intelligence quotient. Better understanding the mechanisms underlying impaired social cognition may lead to adapt therapeutic interventions. The studies targeting social cognition processes offer new thoughts about the development of specific cognitive training programs, as they highlight the importance of connecting neurocognitive and SCT techniques.

KEYWORDS:

facial emotion recognition; genetics; neurodevelopmental disorders; social cognition; systematic review; theory of mind

2018-05-16

Psychosocial Characteristics of Women with a Delayed Diagnosis of Turner Syndrome.

Psychosocial Characteristics of Women with a Delayed Diagnosis of Turner Syndrome.

J Pediatr. 2018 May 09;:

Authors: Reimann GE, Bernad Perman MM, Ho PS, Parks RA, Comis LE
National Institutes of Health, Rehabilitation Medicine Department, Bethesda, MD,US

Abstract

OBJECTIVES: To characterize the psychosocial profiles of adult women diagnosed with Turner syndrome before (early diagnosis) and at or after (late diagnosis) 13 years of age.

STUDY DESIGN: Women with Turner syndrome ages 22 and older at evaluation (n = 110) participated in a cross-sectional study at the National Institutes of Health. Researchers performed nonparametric and logistic regression analyses to assess early and late diagnosis cohorts on measures of depression, substance use, and perceptions of competence and identity.

RESULTS: Of study participants, 47% received a Turner syndrome diagnosis at or after age 13 years. Median age at diagnosis was 12.0 years (range, 0-43). Covariate-adjusted models revealed that women with late diagnoses had an increased likelihood of developing mild to severe depressive symptoms (OR,  7.36) and a decreased likelihood of being perceived as competent (OR, 0.26). Women with a late diagnosis also exhibited more frequent substance use compared with women with early diagnoses.

CONCLUSIONS: These data suggest that Turner syndrome diagnoses received at or after age 13 years may contribute to adverse outcomes related to depression, substance use, and perceptions of competence. Delayed Turner syndrome diagnoses may place women and girls at risk for negative psychosocial development extending into adulthood. These findings indicate it is important for pediatricians to evaluate psychosocial domains in girls with Turner syndrome regularly, particularly among those diagnosed at age 13 years or older.



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