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Turner syndrome (TS) is a genetic disorder affecting mainly females that arises from a loss of X chromosome material, most usually one of the two X chromosomes. TS is associated with a number of characteristic physical features such as short stature and absent ovaries as well as a set of common neuropsychological deficits and social and behavioral...
Context in source publication
Context 1
... shown in Table 1, approximately 50% of individuals with TS are missing an entire X chromosome and among these individuals, 2/3 have a maternal X chromosome (designated as X m ) while the remaining 1/3 has only a paternal X chromosome or X p ( Jacobs et al., 1997). The monosomy-X etiology occurs during the stage of meiosis when the duplicate DNA strands divide and separate providing each ovum or sperm with a single set of chromosomal strands. ...
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Objective
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Methods
Open-label, non-interventional, post-marketing surveillance study recruiting children wit...
Turner syndrome (TS) is a genetic condition characterized by partial or complete monosomy X. A reduced life expectancy has been shown in TS, depending on an increased risk of aortic dissection, and ischemic heart disease. Studies covering the occurrence of psychiatric conditions are sparse within TS. Several case reports describe concomitant TS and...
Citations
... Although wide variability exists, common phenotypic features of girls with TS include short stature, abnormalities in craniofacial development, recurrent middle ear infections, hearing loss, cardiovascular, and renal abnormalities, lymphedema, delayed or absent pubertal development, and learning disabilities [4]. School-age girls with TS typically have been reported to demonstrate average intellectual functioning; however, nonverbal abilities tend to be significantly lower than verbal abilities, and weaknesses tend to occur in the areas of visual-spatial skills, executive functioning, and pragmatic language skills [5][6][7]. Additionally, individuals with TS have been described as experiencing difficulties with oral reading fluency and executive language functions, such as strategic retrieval during oral narratives [8][9][10][11][12][13]. Early detection of these features allows for more timely interventions and, therefore, the potential for improved quality of life. ...
... To address this gap in the literature, we examined the core and social language features of 12-and 24-monthold girls with TS and compared them to available normative data in order to determine the level and pattern of language abilities. We first hypothesized that girls with TS, at 12 and 24 months of age, would show a mean language score within the average range, but that they would manifest selected difficulties in symbolic and social language, perhaps secondary to nonverbal and pragmatic language weaknesses documented in the literature for preschool and school-age girls with TS [5][6][7]. Second, based on research suggesting that a higher number of girls with TS require speech and language services during the school-age years, we examined this question in our sample. We hypothesized that, at 12 and 24 months of age, the percentage of girls with TS in the "at risk" range (i.e., one or more standard deviations (SD) below the mean) would be significantly greater than the percentage of TD children in the "at risk" range (i.e., 16% expected under the assumption that the scores are normally distributed). ...
... We first hypothesized that girls with TS would show a mean language score within the average range but that there would be selected difficulties associated with social and symbolic communication based on pragmatic weaknesses (verbal and nonverbal) reported in the literature in preschool [5] and school-age girls [5][6][7]. With respect to core language abilities, our preliminary findings revealed relatively intact language skills across both receptive and expressive domains with all scores being within the average range. ...
Background
Turner syndrome (TS) is a genetic disorder associated with complete or partial absence of an X chromosome affecting approximately 1/2000 live female births. Available evidence suggests that, in the school-age years, girls with TS often require speech and language services; however, little is known about the language development of infants and toddlers.
Method
This study (N = 31) explored the language profiles of 12- and 24-month-old girls with TS, as well as the percentage of girls who might be “at risk” for language delays. We also followed a subset of 12-month-old girls with TS to 24 months of age to determine the stability of the 12-month findings.
Results
Although all mean scores were within the average range at both time points, results revealed a higher prevalence of 24-month-old girls with TS “at risk” for receptive language difficulties. In addition, expressive language skills significantly exceeded receptive language skills at both time points. We found 12-month-old girls to be “at risk” for social and symbolic difficulties based on clinical assessment; only symbolic difficulties were significant based on caregiver report. At 24 months, clinical assessment indicated greater use of speech sounds and words than normative expectations. Caregivers reported greater use of speech sounds, and also, greater use of gestures. Although some changes occurred over a 1-year time span (12 to 24 months), all mean test scores remained within the average range and the changes in the percentage of girls manifesting “at risk” status on either the PLS-4 or CSBS-DP were non-significant.
Conclusions
Although within normal limits, receptive language skills were found to be significantly lower than expressive language skills at both ages. Social and symbolic communication skills also were in the average range, with both showing significant improvement from 12 to 24 months based on clinical assessment. Caregiver report found that use of gestures and production of speech sounds not only improved from 12 to 24 months, but also exceeded normative expectations. Findings suggest the presence of relatively intact speech and language abilities during the first 2 years of life, with perhaps some emergent concerns for receptive language development. Ongoing developmental surveillance will be important.
... Many different studies show that women with TS have increased mortality compared to the pool of a wide variety of related diseases [19]. The most obvious increase in morbidity is caused by autoimmunities like diabetes mellitus or thyroiditis, osteoporosis, cardiovascular diseases, hypertension, congenital malformations, especially endocrine diseases including heart diseases, digestive system and anemia [20]. ...
Molecular medicine describes molecular structures and mechanisms and this chapter focuses on molecular and genetics errors of diseases. Diseases can be classified into deficiency diseases, hereditary diseases, infectious diseases and physiological diseases and to get a glimpse of the mechanisms the chapter covers the most common disease of each class.
... A wide variety of neurological disorders and neurogenetic syndromes have been associated with VMI dysfunction within the perception-action cycle. For example, syndromes such as Dravet (1)(2)(3), Fragile X (4), Prader-Willi (5-7), Turner (8)(9)(10), and Williams syndromes (11,12) and Autism Spectrum Disorder (ASD) (13,14) are characterized by compromised VMI in terms of the ability to interactively coordinate visual perception and fine motor skills (15,16). Although a great variety of genes have been proposed as a possible etiology for these syndromes (SI Appendix, Table S1), some present phenotypic overlap and comorbidity between them (e.g., ASD and Fragile X, Prader-Willi, and Turner) (17)(18)(19). ...
Significance
Previous research has explored the association between behavioral disorders and dysfunction in corresponding neural networks. For example, autism spectrum disorder, Prader–Willi syndrome, and Dravet syndrome are characterized by behavioral deficits in the visuomotor integration system. To date, few investigations have combined brain connectomic–genetic data to investigate the biological basis of childhood neurodevelopment and clinical syndromes. The present study provides evidence of a link between expression of malfunctioning genes associated with these syndromes (i.e., TBR1, SCN1A, MAGEL2, and CACNB4) and cortical distribution across regions devoted to integrating visual and motor information (i.e., the lateral occipital cortex, OP4, and intraparietal sulcus). We suggest this altered gene expression may underlie brain network dysfunction which, in turn, leads to behavioral deficits.
... scores, with the abnormal group slightly higher than the subnormal group. The direction of the difference is counterintuitive, which also conflicts with the previously reported improvement of cognitive performance after estrogentreatment in TS (Rovet, 2004). The interpretation for this unexpected result is difficult by using our current data. ...
Gonadal steroids play an important role in brain development, particularly during puberty. Girls with Turner syndrome (TS), a genetic disorder characterized by the absence of all or part of the second X chromosome, mostly present a loss of ovarian function and estrogen deficiency, as well as neuroanatomical abnormalities. However, few studies have attempted to isolate the indirect effects of hormones from the direct genetic effects of X chromosome insufficiency. Brain structural (i.e., gray matter [GM] morphology and white matter [WM] connectivity) and functional phenotypes (i.e., resting‐state functional measures) were investigated in 23 adolescent girls with TS using multimodal MRI to assess the role of hypogonadism in brain development in TS. Specifically, all girls with TS were divided into a hormonally subnormal group and an abnormal subgroup according to their serum follicle‐stimulating hormone (FSH) levels, with the karyotypes approximately matched between the two groups. Statistical analyses revealed significant effects of the “group‐by‐age” interaction on GM volume around the left medial orbitofrontal cortex and WM diffusion parameters around the bilateral corticospinal tract, anterior thalamic radiation, left superior longitudinal fasciculus, and cingulum bundle, but no significant “group‐by‐age” or group differences were observed in resting‐state functional measures. Based on these findings, estrogen deficiency has a nontrivial impact on the development of the brain structure during adolescence in girls with TS. Our present study provides novel insights into the mechanism by which hypogonadism influences brain development during adolescence in girls with TS, and highlights the important role of estrogen replacement therapy in treating TS.
... As might be expected in a condition affecting typical development, there are learning and behavioral difficulties that are typically identified in early childhood that can persist (Ross et al., 2002;Rovet, 2004 Russell et al., 2006). In our clinical experience with adult women, this is most likely to be the inattentive subtype of ADHD, although higher rates of hyperactivity have been reported in children and adolescents with Turner syndrome (Green et al., 2015). ...
Turner syndrome is recognized now as a syndrome familiar not only to pediatricians and pediatric specialists, medical geneticists, adult endocrinologists, and cardiologists, but also increasingly to primary care providers, internal medicine specialists, obstetricians, and reproductive medicine specialists. In addition, the care of women with Turner syndrome may involve social services, and various educational and neuropsychologic therapies. This article focuses on the recognition and management of Turner syndrome from adolescents in transition, through adulthood, and into another transition as older women. It can be viewed as an interpretation of recent international guidelines, complementary to those recommendations, and in some instances, an update. An attempt was made to provide an international perspective. Finally, the women and families who live with Turner syndrome and who inspired several sections, are themselves part of the broad readership that may benefit from this review.
... Turner syndrome (TS) is a rare (affecting 25-50 per 100,000 females) genetic disorder that arises from a partial or complete loss of X chromosome material [1]. It is associated with a number of characteristic physical features (such as short stature, gonadal dysgenesis, lack of pubertal maturation, infertility, kidney and cardiac anomalies and others), as well as a particular social and behavioral features, a particular neurocognitive profile, deficits of memory, attention, social cognition and emotional recognitions [1,2]. ...
... Social functioning may also be hindered by specific cognitive profile in TS women with marked deficits in various visual-spatial and visualmotor skills, arithmetic abilities, executive functions and some language aspects, while other intellectual capacities are usualy preserved in TS [2,16,34]. Studies on psychomotor function suggest both general and specific motor impairments in TS, including dificulties in visualmotor coordination, learning and fine motor function [35]. In our study we found adult women with TS performing significantly worse in such aspects of cognitive functioning as attention, visual scaning abilities, executive function and psychomotor speed compared to age-matched control women. ...
... Hormone deficiency might also impact brain regions involved in affect regulation and behavior [46]. Several studies have demonstrated significantly better visual-perceptual and visual-spatial abilities, motor planning skills in estrogen treated TS patients than in non-treated [2,47]. Ross et al. [48] suggested that these results reflect a specific influence of estrogen on brain maturation during puberty. ...
A B S T R A C T
Aim: The aim was to analyze emotional state, cognitive functioning and quality of life (QoL) of adult women with Turner syndrome (TS) in Lithuania.
Patients and methods: Of all invited adult TS patients from Lithuanian TS database (n=150), 68 (age 18–60, average 30.2 ± 9.0 years) agreed and were recruited for the study, as well as 68 age-matched healthy control women. Emotional state was evaluated by Profile of Mood States (POMS) questionnaire, cognitive functioning by Trail Making Test and Digit Span Test (DST) of Wechsler Adult Intelligence Scale, and QoL by WHO Brief Quality of Life Questionnaire (WHO QoL).
Results: Patients with TS were of a significantly shorter stature (p < .001) than age-matched control women and than the 3rd percentile of the National Standards of Lithuania. After the adjustment for height, weight and body mass index (BMI), no significant differences in emotional state were detected, though without the adjustment, depression-dejection (p=.004) score was significantly higher in TS women than in age-matched controls. Significantly worse cognitive functioning (attention capacity, visual scanning abilities, executive function and psychomotor speed, p < .001), as well as worse psychological (p=.002) and social (p=.006) aspects of QoL were found after the adjustment for height, weight and BMI in adult women with TS than in age-matched controls.
Conclusion: After the adjustment for height, weight and BMI, adult women with Turner syndrome in Lithuania have impaired cognitive functioning and worse psychological and social aspects of QoL, but not emotional state and physical and environmental aspects of QoL in comparison to age-matched healthy women.
... Behaviorally, multiple studies have demonstrated significantly better visual perceptual abilities and motor planning skills in estrogentreated TS females than in non-treated TS females (Rovet, 2004). Regarding brain phenotypes, only one neuroimaging study included two separate TS groups stratified by estrogen treatment: estrogen-naïve and estrogen-treated (Lepage et al., 2013b) groups. ...
... Slightly better performances in psychological function, internalizing emotional behaviors, and arithmetic abilities have been identified in GH-treated TS individuals compared with non-treated TS individuals (Rovet, 2004). Following these behavioral studies, Cutter and colleagues conducted the only neuroimaging investigation to ascertain the effect of GH treatment on the neuroanatomy of TS individuals. ...
... no obstante, se han reportado déficit selectivos de ciertos dominios, como habilidades visuoespaciales, que incluyen procesos de percepción espacial, integración visual-motora, orientación izquierda-derecha y memoria noverbal; así como dificultades en la memoria de trabajo y la capacidad atencional, particularmente aquellas que requieren del control de la impulsividad y el automonitoreo [19,23,30,32]. existen evidencias de que estos déficits selectivos podrían estar relacionados con fallas en la expresión del material genético del cromosoma X, ya sea por pérdida de fragmentos específicos [15,29], o debido a la expresión diferencial del mismo a través de mecanismos de imprinting genómico [6,8,16]. ...
el síndrome de turner es un trastorno cromosómico que expresa una morfología cerebral atípica afectando áreas corticales y circuitos de conexión funcionales asociados con dificultades en la organización y codificación del material no verbal. el presente trabajo tuvo por objetivo analizar las características de la memoria visuoespacial en mujeres con diagnóstico de síndrome de turner, con particular énfasis en los pro-cesos de codificación, a los fines de aportar evidencias empíricas sobre las características parti-culares de los procesos de aprendizaje de esta población clínica. Con un diseño ex post facto, retrospectivo, de dos grupos, se aplicó el test de copia y de reproducción de memoria de figuras geométricas complejas de rey a 40 mujeres (20 grupo clínico y 20 grupo control). Los resultados mostraron la existencia de diferencias significativas entre la muestra clínica y sus controles en el funcio-namiento mnésico visuoespacial, con desempeños significativamente inferiores de las mujeres con diagnóstico de síndrome de turner en los procesos de organización perceptiva y en la capacidad de recuerdo inmediato. estas evidencias permitirían sustentar la idea de que la expresión génica diferencial característica del síndrome de turner produciría una organización cortical atípica, principalmente en el hemisferio derecho, generando dificultades en la integración intermodal y en el procesamiento de estímulos nuevos, lo que explicaría el déficit en los procesos de codificación de datos visuoespaciales. Palabras claves: Morfología cerebral – procesos de codificación – aprendizaje. Differential Evaluation of Visuospatial Memory Processes in Turner Syndrome turner syndrome is a chromosomal disorder that expresses an atypical cerebral morphology affecting cortical areas and functional connection circuits associated with difficulties in the organization and codification of non-verbal material. this study aimed to analyze the characteristics of visu-ospatial memory in women diagnosed with turner syndrome, with particular emphasis on coding processes, in order to provide empirical evidence about the particular characteristics of the learning process of this clinical population. With a design retrospective ex post facto, of two groups, rey's complex geometrical figures backup and a playback memory test was applied to 40 women (20 clinical group and 20 control group). the results indicate significant differences between the clinical and control samples in the visuospatial mnemonic operation, with significantly lower performances in women diagnosed with turner syndrome in perceptual organization processes and immediate memory capacity. these evidences would support the idea that the characteristic differential gene expression of turner syndrome would produce an atypical cortical organization, mainly in the right hemisphere, creating difficulties in the intermodal integration and processing of new stimuli, which would explain the deficit in the visuospatial coding data processes.
... Most patients with Turner syndrome have an intellectual ability within the normal range, although their IQ profile is often characterized by a Verbal IQ (VIQ)-Performance IQ (PIQ) discrepancy, in favor of the VIQ. The cognitive phenotype of females with Turner syndrome is characterized by relative strengths in the verbal domain and deficits in attentional, visual-spatial and executive functions, including working memory (Mazzocco, 2009;Rovet, 2004). ...
... Relatedly, girls with different karyotypes were included in the Turner group. This within-group heterogeneity might have influenced the outcomes of the current study (see Rovet, 2004). Future research on the cognitive phenotypes of both syndrome groups should take these issues into account. ...
Cross-syndrome comparisons offer an important window onto understanding heterogeneity in mathematical learning disabilities or dyscalculia. The present study therefore investigated symbolic numerical magnitude processing in two genetic syndromes that are both characterized by mathematical learning disabilities: Turner syndrome and 22q11.2 deletion syndrome (22q11DS). We further verified whether the phenotypic outcomes of these syndromes emerged from the same or different cognitive processes and therefore examined whether numerical impairments were related to working memory deficits, often observed in these syndromes. Participants were 24 girls with Turner syndrome, 25 children with 22q11DS and 48 well-matched typically developing control children. All children completed a symbolic numerical magnitude comparison task and four additional working memory tasks. Both groups of children with genetic syndromes showed similar impairments in symbolic numerical magnitude processing compared to typically developing controls. Importantly, in Turner syndrome, group differences in symbolic numerical magnitude processing disappeared when their difficulties in visual-spatial working memory were taken into account. In contrast, the difficulties in 22q11DS were not explained by poor visual-spatial working memory. These data suggest that different factors underlie the symbolic numerical magnitude processing impairments in both patient groups with mathematical learning disabilities and highlight the value of cross-syndrome comparisons for understanding different pathways to mathematical learning disabilities or dyscalculia.
... This results not only in age variations between girls and women with TS but in individual variations as well. However, the characteristic cognitive profile in women with TS is marked deficits in various visual-spatial and visual-motor skills, arithmetic abilities, executive functions, and some language aspects Rovet, 2004;Ross et al., 2006;Christopoulos et al., 2008). Other intellectual capacities, however, are preserved in TS; in some domains, such as receptive and expressive linguistic abilities, performance is sometimes superior to that of the general population. ...
Turner syndrome (TS) is a chromosomal condition that affects development in females. It is characterized by short stature, ovarian failure and other congenital malformations, due to a partial or complete absence of the sex chromosome. Women with TS frequently suffer from various physical and hormonal dysfunctions, along with impairments in visual-spatial processing and social cognition difficulties. Previous research has also shown difficulties in face and emotion perception. In the current study we examined two questions: First, whether women with TS, that are impaired in face perception, also suffer from deficits in face-specific processes. The second question was whether these face impairments in TS are related to visual-spatial perceptual dysfunctions exhibited by TS individuals, or to impaired social cognition skills. Twenty-six women with TS and 26 control participants were tested on various cognitive and psychological tests to assess visual-spatial perception, face and facial expression perception, and social cognition skills. Results show that women with TS were less accurate in face perception and facial expression processing, yet they exhibited normal face-specific processes (configural and holistic processing). They also showed difficulties in spatial perception and social cognition capacities. Additional analyses revealed that their face perception impairments were related to their deficits in visual-spatial processing. Thus, our results do not support the claim that the impairments in face processing observed in TS are related to difficulties in social cognition. Rather, our data point to the possibility that face perception difficulties in TS stem from visual-spatial impairments and may not be specific to faces.
