Increased Prevalence of ADHD in Turner Syndrome with No Evidence of Imprinting Effects

Russell, Heather F.; Wallis, Deeann; Mazzocco, Michèle M.M.; Moshang, Thomas; Zackai, Elaine H.; Zinn, Andrew R.; Ross, Judith L.; Muenke, Maximilian

doi:10.1093/jpepsy/jsj106

Cited by 114 publications

(91 citation statements)

References 46 publications

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“…Most of the studies analyzing parent-of-origin effects in TS, report a predominance of the maternal X, largely due to the non-viability of the karyotype 45,Y and a slight preferential loss of paternal sex chromosomes (66, 67,68,69,70,71). Several studies analyzed whether X-linked imprinting effects might be associated with distinct phenotypical features, with conflicting results (72,73,74). Lack of statistical power to detect subtle differences explains part of the observed heterogeneity (Table 4).…”

Section: Postnatal Diagnosismentioning

confidence: 99%

“…Interventions specifically targeting biological mechanisms related to the core cognitive phenotype of TS have yet to be developed. However, the cognitive and psychosocial challenges associated with TS align with recognized diagnoses, including attentiondeficit/hyperactivity disorder (ADHD) (72,473), specific learning disorders (474), social communication disorder, autism spectrum disorders (475) and developmental coordination disorder (476), and evidence suggests that generic interventions developed for non-TS populations may be adapted with similar positive effects (477) ( Table 10). As in other genetic syndromes, it is critical to note the high degree of individual variability in the somatic, cognitive and psychosocial phenotypes of girls and women with TS; one should never assume the presence (or absence) of a deficit based on karyotype.…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

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

876

1,259

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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 ...

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Section: Postnatal Diagnosismentioning

confidence: 99%

Section: Introductionmentioning

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

876

1,259

View full text Add to dashboard Cite

show abstract

“…As mentioned, ADHD is present in almost half the children with VCFS. However, ADHD is not a behavioral phenotype of VCFS because it does not fulfill these criteria: first, similarly high rates of ADHD (25-60%) were reported in association with other neurogenetic syndromes as well, including fragile X, Williams, Prader-Willi, and Turner syndromes [Wigren and Hansen, 2005;Leyfer et al, 2006;Russell et al, 2006;Sullivan et al, 2006]; second, no cases of 22q11.2 deletion have been identified in children with ADHD from the general population [Bastain et al, 2002]. Thus, we may assume that ADHD is a common, nonspecific pathway for a variety of risk factors affecting brain development and function.…”

Section: Psychiatric Disorders In Vcfs Childhood and Adolescencementioning

confidence: 99%

Genes, brain development and psychiatric phenotypes in velo‐cardio‐facial syndrome

Gothelf

Schaer

Eliez

2008

Dev Disabil Res Revs

118

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Velo-cardio-facial syndrome (VCFS) has been in the focus of intensive research over the last 15 years. The syndrome represents a homogeneous model for studying the effect of a decreased dosage of genes on the development of brain structure and function and, consequently, on the emergence of schizophrenia-like psychotic disorder. In this review, we describe the psychiatric phenotype of children, adolescents, and young adults with VCFS. We redefine the concept of "behavioral phenotype" and suggest that psychosis fulfills the criteria of a behavioral phenotype of the syndrome. Identifying the risk factors for the emergence of psychosis in VCFS is a major goal of several large-scale longitudinal studies that are currently underway. We review the knowledge gained so far about risk factors for psychosis in VCFS, including early neuropsychiatric symptoms, development of brain structure and function, and the effect of a reduced dosage of genes from the 22q11 deletion region. Although the brain structure in subjects with VCFS is not drastically different from typically developing controls, newer imaging modalities that measure white matter tracts, cortical thickness, and cortical gyrification are likely to identify more subtle and specific neuroanatomical substrates of the syndrome. Among the 24 genes within the deletion region, the role of catechol-O-methyltransferase (COMT) on the VCFS phenotype has been investigated in depth. The findings suggest that because of haploinsufficiency of the COMT gene individuals with VCFS are exposed to a high level of prefrontal dopamine, and this interferes with their prefrontal cognitive functioning and may contribute to their high rate of psychosis and other psychiatric disorders. The other genes and environmental factors that shape the unique neuropsychiatric phenotype of VCFS are yet to be discovered.

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“…Girls with TS have increased likelihood for attention deficit hyperactivity disorder (ADHD) diagnoses, apparently not influenced by the parental origin of the single normal X chromosome. 8 These cognitive and behavioral observations on TS were derived from research studies stimulated by interest in the role of sex chromosomes in sex-based differences in cognition, social behavior, and vulnerability to psychological disorders such as autism and ADHD. It is not clear that girls and women with TS actually have clinically significant learning or psychosocial problems.…”

Section: Introductionmentioning

confidence: 99%

High Levels of Education and Employment Among Women with Turner Syndrome

Gould

Bakalov

Tankersley

et al. 2013

Journal of Women's Health

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Background: Turner Syndrome (TS) is due to X chromosome monosomy and affects *1 per 2500 females at birth. The major features are short stature and primary ovarian failure. Short stature and monosomy for a maternal X chromosome have been implicated in impaired functionality in adult life; however, data on adult outcomes in TS are limited. In this study we evaluated the influence of adult height and parental origin of the single X chromosome on education, employment, and marital outcomes among women with TS. Methods: This was a cross-sectional study of 240 women (25-67 years old) with TS participating in an intramural National Institutes of Health (NIH) study. Parental origin of the single X chromosome was determined by genotyping proband and parental genomic DNA. Information on education, employment, and family status was self reported. Normative data was obtained from the U.S. Bureaus of Census and Labor and Statistics. Results: Seventy percent of the TS group had a baccalaureate degree or higher, compared with 30% of U.S. women ( p < 0.0001). Eighty percent of the TS group was employed compared with 70% of the U.S. female population. Approximately 50% of the TS group had ever married, compared with 78% of the general female population ( p < 0.0001). Height and parental origin of the single normal X chromosome had no association with education, employment, or marital status. Conclusion: Women with TS currently achieve education and employment levels higher than the female U.S. population but are less likely to marry. Neither adult height nor parental origin of the single X chromosome influenced outcomes in education, employment, or marriage.

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Increased Prevalence of ADHD in Turner Syndrome with No Evidence of Imprinting Effects

Abstract: We find an increased prevalence of ADHD in girls with TS but no evidence for imprinting effects for cognitive performance.

Cited by 114 publications

References 46 publications

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

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

Genes, brain development and psychiatric phenotypes in velo‐cardio‐facial syndrome

High Levels of Education and Employment Among Women with Turner Syndrome

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