The intellectual disability of trisomy 21: differences in gene expression in a case series of patients with lower and higher IQ

Mégarbané, André; Noguier, Florian; Stora, Samantha; Manchon, Laurent; Mircher, Clotilde; Bruno, Roman; Dorison, Nathalie; Pierrat, Fabien; Rethoré, M O; Trentin, Bernadette; Ravel, Aimé; Morent, Marine; Lefranc, Gérard; Piquemal, David

doi:10.1038/ejhg.2013.24

Cited by 31 publications

(22 citation statements)

References 38 publications

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“…The IQ of adult subjects with DS is approximately 40 to 70 points, while healthy adults are near 100 [40]. This difference should be accounted for when studying cognitive functions in DS.…”

Section: Discussionmentioning

confidence: 99%

Performance of Down syndrome subjects during a coincident timing task

Torriani‐Pasin¹,

Bonuzzi²,

Soares³

et al. 2013

Int Arch Med

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BackgroundThe time synchronization is a very important ability for the acquisition and performance of motor skills that generate the need to adapt the actions of body segments to external events of the environment that are changing their position in space. Down Syndrome (DS) individuals may present some deficits to perform tasks with synchronization demand. We aimed to investigate the performance of individuals with DS in a simple Coincident Timing task.Method32 individuals were divided into 2 groups: the Down syndrome group (DSG) comprised of 16 individuals with average age of 20 (+/− 5 years old), and a control group (CG) comprised of 16 individuals of the same age. All individuals performed the Simple Timing (ST) task and their performance was measured in milliseconds. The study was conducted in a single phase with the execution of 20 consecutive trials for each participant.ResultsThere was a significant difference in the intergroup analysis for the accuracy adjustment - Absolute Error (Z = 3.656, p = 0.001); and for the performance consistence - Variable Error (Z = 2.939, p = 0.003).ConclusionDS individuals have more difficulty in integrating the motor action to an external stimulus and they also present more inconsistence in performance. Both groups presented the same tendency to delay their motor responses.

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“…The IQ of adult subjects with DS is approximately 40 to 70 points, while healthy adults are near 100 [40]. This difference should be accounted for when studying cognitive functions in DS.…”

Section: Discussionmentioning

confidence: 99%

Performance of Down syndrome subjects during a coincident timing task

Torriani‐Pasin¹,

Bonuzzi²,

Soares³

et al. 2013

Int Arch Med

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“…Individuals with DS almost universally present with cognitive impairment even in early life, with affected young adults demonstrating, on average, mild to moderate intellectual disability (mean IQ: 50; range: 30–70) (Carr, ). These deficits presumably relate to copy number expansion of chromosome 21 genes; however, definitive identification of specific risk loci and downstream pathophysiology remains an active area of investigation (Lana‐Elola, Watson‐Scales, Fisher, & Tybulewicz, ; Megarbane et al, ).…”

Section: Introductionmentioning

confidence: 99%

Plasma metabolites related to cellular energy metabolism are altered in adults with Down syndrome and Alzheimer's disease

Groß

Doran

Cheema

et al. 2019

Developmental Neurobiology

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Down syndrome (DS) is a well‐known neurodevelopmental disorder most commonly caused by trisomy of chromosome 21. Because individuals with DS almost universally develop heavy amyloid burden and Alzheimer's disease (AD), biomarker discovery in this population may be extremely fruitful. Moreover, any AD biomarker in DS that does not directly involve amyloid pathology may be of high value for understanding broader mechanisms of AD generalizable to the neurotypical population. In this retrospective biomarker discovery study, we examined banked peripheral plasma samples from 78 individuals with DS who met clinical criteria for AD at the time of the blood draw (DS‐AD) and 68 individuals with DS who did not (DS‐NAD). We measured the relative abundance of approximately 5,000 putative features in the plasma using untargeted mass spectrometry (MS). We found significantly higher levels of a peak putatively annotated as lactic acid in the DS‐AD group (q = .014), a finding confirmed using targeted MS (q = .011). Because lactate is the terminal product of glycolysis and subsequent lactic acid fermentation, we performed additional targeted MS focusing on central carbon metabolism which revealed significantly increased levels of pyruvic (q = .03) and methyladipic (q = .03) acids in addition to significantly lower levels of uridine (q = .007) in the DS‐AD group. These data suggest that AD in DS is accompanied by a shift from aerobic respiration toward the less efficient fermentative metabolism and that bioenergetically derived metabolites observable in peripheral blood may be useful for detecting this shift.

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“…1 Children with DS generally function cognitively in the mild to moderate intellectual disability range with a mean IQ score of 50 and have a characteristic profile of speech and language deficits with impairments in both receptive and expressive language. 3,4 They also acquire motor skills at a slower rate compared to typically developing children. 5 At school, children with DS have significant difficulties in reading and mathematics beyond what would be expected for their cognitive level and require special assistance and interventions to improve their learning skills and their academic achievement.…”

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confidence: 99%

Does Congenital Heart Disease Affect Neurodevelopmental Outcomes in Children with Down Syndrome?

Alsaied

Marino

Esbensen

et al. 2016

Congenital Heart Disease

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Objective. The impact that congenital heart disease (CHD) has on the neurodevelopment of children with Down syndrome (DS) is unknown and potentially has implications for targeted early intervention. This study assessed the relationship between CHD that required surgery in the first year of life and neurodevelopmental, behavioral and emotional functioning outcomes in children with DS. Methods. A retrospective chart review of 1092 children (0-18 years) with DS who visited a single institution from 8/08-8/13 was performed. Children who underwent at least one of nine neurodevelopmental (cognitive, language, developmental) or academic tests were included in the analysis (N 5 178). Cohort was age-divided into infants/toddlers (0-2 years), preschoolers (3-5 years), and school age/adolescent (6-18 years). Test scores of children with DS who underwent cardiac surgery in the first year of life were compared to children with DS without CHD. T test, chisquare and Mann Whitney U tests were used where appropriate. Results. Infants/toddlers with cardiac surgery had lower scores for receptive (P 5 .01), expressive (P 5 .021) and composite language (P < .001) compared to those with no CHD. Preschoolers with cardiac surgery had lower language scores and lower visual motor scores, although not statistically significant. In school age children with cardiac surgery there were no differences in IQ scores, language scores, or academic achievement scores compared to those without CHD. Also at school-age there was no difference in the incidence of ADHD, executive function or on internalizing and externalizing behavior scores. Conclusion. Children with DS undergoing cardiac surgery during the first year demonstrated poorer neurodevelopmental outcomes as infants/toddler but had no difference at school age compared to children with DS without CHD. These results will guide early interventions to optimize neurodevelopmental outcomes in children with DS and will help with family counseling after CHD repair.

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The intellectual disability of trisomy 21: differences in gene expression in a case series of patients with lower and higher IQ

Cited by 31 publications

References 38 publications

Performance of Down syndrome subjects during a coincident timing task

Performance of Down syndrome subjects during a coincident timing task

Plasma metabolites related to cellular energy metabolism are altered in adults with Down syndrome and Alzheimer's disease

Does Congenital Heart Disease Affect Neurodevelopmental Outcomes in Children with Down Syndrome?

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