Executive Functions in Children and Adolescents with Turner Syndrome: A Systematic Review and Meta-Analysis

Mauger, Claire; Lancelot, Céline; Roy, Arnaud; Coutant, Régis; Cantisano, Nicole; Gall, Didier Le

doi:10.1007/s11065-018-9372-x

Cited by 28 publications

(21 citation statements)

References 123 publications

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“…Additionally, on measures of impulsivity, 39,XO and 40,XX mice did not differ. Thus, the 39,XO genotype appears to have face validity in terms of the attentional deficits observed in TS (Delooz et al, 1993; Green et al, 2018; Mauger et al, 2018; McCauley et al, 1987; Ross et al, 2002; Russell et al, 2006), but not for the impulsivity observed in TS (Romans et al, 1997; Russell et al, 2006; Tamm et al, 2003).…”

Section: Introductionmentioning

confidence: 99%

Reversal learning performance in the XY* mouse model of Klinefelter and Turner Syndromes

Aarde¹,

Hrncir²,

Arnold³

et al. 2019

Preprint

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Klinefelter syndrome (KS; 47, XXY) and Turner syndrome (TS; 45, XO) are caused by two relatively common sex chromosome aneuploidies. These conditions are associated with an increased odds of neuropsychiatric disorders, including attention deficit/hyperactivity disorder (ADHD), as well as impairments in cognition that include learning delays, attentional dysfunction and impulsivity. We studied cognitive functions in the XY* mouse model, which allows comparison of XXY to XY males (KS model), and XO to XX females (TS model). We evaluated adult mice with and without gonads, using a version of an operant reversal-learning task (RLT) that can be used to measure various facets of learning, impulsivity and attention. In the KS model, only one measure related to impulsivity – perseverative responding under reversal conditions – reliably discriminated gonadally intact XXY and XY mice. In contrast, a fundamental learning impairment (more trials to criterion in acquisition phase) in XXY mice, as compared to XY, was observed in gonadectomized subjects. No other task measures showed differences consistent with KS. In the TS mouse model, XO mice did not show a pattern of results consistent with TS, similar to past observations. Thus, the application of this RLT to these XY* models reveals only limited behavioral impairments relevant to KS.

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Section: Introductionmentioning

confidence: 99%

Reversal learning performance in the XY* mouse model of Klinefelter and Turner Syndromes

Aarde¹,

Hrncir²,

Arnold³

et al. 2019

Preprint

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“…It refers to those mental functions used to control own behaviour, taking into account the conditions of a person´s environment. EFs such as planning, problem‐solving and reasoning 34 have been found to be impaired in TS 35‐37 …”

Section: Discussionmentioning

confidence: 99%

Less ready for adulthood?—Turner syndrome has an impact on transition readiness

Culen

Herle

Ertl

et al. 2020

Clinical Endocrinology

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Objective Young women with Turner syndrome (TS) are known to be at risk for loss to medical follow‐up. Recent literature indicates that there are disparities regarding transition readiness between different chronic conditions. So far, studies in young women with TS investigating their transition readiness compared to youths with other chronic conditions with no or minor neurocognitive challenges have not been reported. Methods Patients (n = 52), 26 patients with Turner syndrome (mean age 17.24 ± 2.10) and 26 controls with type 1 diabetes or a rheumatic disease (mean age 17.41 ± 2.44), were recruited from specialized paediatric endocrine outpatient clinics. The Transition Readiness Assessment Questionnaire TRAQ‐GV‐15 was used to compare transition readiness scores between TS and controls. In addition, information on individual handling of the questionnaire was obtained. Descriptive statistics and nonparametric methods were used to analyse the data. Results Significant differences for transition readiness scores were found between the two study groups. The global TRAQ‐GV‐15 score was significantly lower for females with TS. In particular, subscale 1 ‘autonomy’ of the TRAQ‐GV‐15 showed lower scores in patients with TS. Patients with TS needed significantly more help and more time to complete the questionnaire. Conclusion Special attention should be given to young women with Turner syndrome in the preparation for the transitional phase. By incorporating the assessment of transition readiness specialists will find it easier to identify underdeveloped skills and knowledge gaps in their patients. Unless a multidisciplinary young adult clinic is established, an older age than 18 years at transfer to adult endocrine care might be beneficial.

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“…Most individuals with TS have short stature, which is associated with the loss of the SHOX gene [110][111][112] . These individuals are at increased risk for neurodevelopmental issues, including learning disabilities, visuo-spatial, social and executive function impairments 113 and epilepsy [114][115][116][117][118] . Interestingly, the smallest chromosomal deletion associated with the neurocognitive phenotype included SHOX 119 , suggesting that loss of SHOX may play a role in cognitive impairments in humans.…”

Section: Discussionmentioning

confidence: 99%

The transcription factor Shox2 shapes thalamocortical neuron firing and synaptic properties

Maroteaux

Song

et al. 2019

Preprint

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Thalamocortical neurons (TCNs) transmit information about sensory stimuli from the thalamus to the cortex. In response to different physiological states and demands TCNs can fire in tonic and/or phasic burst modes. These firing properties of TCNs are supported by precisely timed inhibitory synaptic inputs from the thalamic reticular nucleus and intrinsic currents, including T-type Ca 2+ and HCN currents. These intrinsic currents are mediated by Cav3.1 and HCN channel subunits, and alterations in expression or modulation of these channels can have dramatic implications on thalamus function. The factors that regulate these currents controlling the firing patterns important for integration of the sensory stimuli and the consequences resulting from the disruption of these firing patterns are not well understood. Shox2 is a transcription factor known to be important for pacemaker activity in the heart. We show here that Shox2 is also expressed in adult mouse thalamus. We hypothesized that genes regulated by Shox2's transcriptional activity may be important for physiological properties of TCNs. In this study, we used RNA sequencing on control and Shox2 knockout mice to determine Shox2-affected genes and revealed a network of ion channel genes important for neuronal firing properties. Quantitative PCR confirmed that expression of Hcn2, 4 and Cav3.1 genes were affected by Shox2 KO. Western blotting showed expression of the proteins for these channels was decreased in the thalamus, and electrophysiological recordings showed that Shox2 KO impacted the firing and synaptic properties of TCNs. Finally, behavioral studies revealed that Shox2 expression in TCNs play a role in somatosensory function and object recognition memory. Overall, these results reveal Shox2 as a transcription factor important for TCN firing properties and thalamic function. 1 Processing of sensory information is mediated by precise circuitry that senses stimuli in 2 the periphery and transforms the information through a network of synaptic connections to 3 ultimately allow perception and cognitive processing of the surrounding world. Rhythmic 4 oscillations of brain activity crucial to cognitive function emerge from neuronal network 5 interactions that consist of reciprocal connections between the thalamus, the inhibitory 6 thalamic reticular nucleus and the cortex 1 . Dysfunction of these oscillations caused by 7 aberrant activity in the thalamic circuit is thought to play a role in many neuropathological 8 conditions, including epilepsy 2-4 , autism 5-7 , and schizophrenia [8][9][10][11] . Furthermore, damage to 9 thalamic nuclei, especially medial and anterior nuclei, causes severe memory deficits known 10 as diencephalic amnesia 12-17 . 11 The intrinsic properties that shape action potential firing and contribute to rhythmic 12 oscillations of the thalamocortical neurons (TCNs) are important for efficient transfer of 13 information from the thalamus to the cortex. Notably, TCNs switch their firing states between 14 2 modes, burst and tonic fi...

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Executive Functions in Children and Adolescents with Turner Syndrome: A Systematic Review and Meta-Analysis

Cited by 28 publications

References 123 publications

Reversal learning performance in the XY* mouse model of Klinefelter and Turner Syndromes

Reversal learning performance in the XY* mouse model of Klinefelter and Turner Syndromes

Less ready for adulthood?—Turner syndrome has an impact on transition readiness

The transcription factor Shox2 shapes thalamocortical neuron firing and synaptic properties

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