scholarly journals The importance of understanding individual differences in Down syndrome

F1000Research ◽  
2016 ◽  
Vol 5 ◽  
pp. 389 ◽  
Author(s):  
Annette Karmiloff-Smith ◽  
Tamara Al-Janabi ◽  
Hana D'Souza ◽  
Jurgen Groet ◽  
Esha Massand ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Individual Differences ◽  
High Risk ◽  
Life Expectancy ◽  
Protective Factors ◽  
Trisomy 21 ◽  
Risk And Protective Factors ◽  
High Risk Population ◽  
Wide Range ◽  
New Research

In this article, we first present a summary of the general assumptions about Down syndrome (DS) still to be found in the literature. We go on to show how new research has modified these assumptions, pointing to a wide range of individual differences at every level of description. We argue that, in the context of significant increases in DS life expectancy, a focus on individual differences in trisomy 21 at all levels—genetic, cellular, neural, cognitive, behavioral, and environmental—constitutes one of the best approaches for understanding genotype/phenotype relations in DS and for exploring risk and protective factors for Alzheimer’s disease in this high-risk population.

Down Syndrome from a Neurodevelopmental Perspective

2016 ◽  
Author(s):  
Hana D’Souza ◽  
Jamie Edgin ◽  
Annette Karmiloff-Smith
Keyword(s):  
Down Syndrome ◽  
Individual Differences ◽  
Trisomy 21 ◽  
Genetic Disorder ◽  
Developmental Time ◽  
Receptive Vocabulary ◽  
Chromosome 21 ◽  
Typically Developing ◽  
Altered Expression ◽  
Wide Range

This is an advance summary of a forthcoming article in the Oxford Research Encyclopedia of Psychology. Please check back later for the full article. Down syndrome (DS; trisomy 21) is the most common genetic disorder associated with intellectual disability. It occurs in one out of every 700 to 1,000 live births. DS is caused by trisomy of human chromosome 21, which results in the altered expression of over 300 genes. This neurodevelopmental syndrome is characterized by distinctive facial dysmorphology and an uneven cognitive phenotype including relative strengths and weaknesses. Relative strengths include visual processing, receptive vocabulary, and social-emotional functioning (though performance in these domains generally falls below the level expected for typically developing individuals). Relative weaknesses include verbal working memory, expressive language, and motor ability. However, the phenotype of individuals with DS is far from homogeneous, and a wide range of individual differences is present at every level of description. On the genetic level, the trisomy can occur through different mechanisms at distinct developmental time points, and the expression of trisomy 21 may be modulated by different genes across individuals. On the level of the brain, individual differences in brain structure and/or function correlate with variation in cognition and behavior, including communication skills. Large individual differences can also be observed on the cognitive level. For example, while some toddlers with DS are nonverbal, others reach expressive vocabulary levels close to those of typically developing children. A wide range of individual differences has also been reported in other areas, including the motor domain, sleep, parent-child interaction, and medical and psychiatric comorbidities. In order to understand a neurodevelopmental syndrome such as DS, it is crucial to consider individual variations at multiple levels of description and the interactions between them over developmental time. A more complex, dynamic view that goes beyond a description of DS as a homogenous group is thus required.

scholarly journals Purpose in Life and Conscientiousness Protect Against the Development of Suicidal Ideation in U.S. Military Veterans With PTSD and MDD: Results From the National Health and Resilience in Veterans Study

2019 ◽  
Vol 3 ◽  
pp. 247054701987217 ◽  
Author(s):  
Elizabeth Straus ◽  
Sonya B. Norman ◽  
Jessica C. Tripp ◽  
Michelle Pitts ◽  
Robert H. Pietrzak
Keyword(s):  
Suicidal Ideation ◽  
High Risk ◽  
Protective Factors ◽  
National Health ◽  
Purpose In Life ◽  
Risk And Protective Factors ◽  
Self Report ◽  
High Risk Population ◽  
Factors Associated

Background Although several studies have examined risk factors for suicidal ideation among veterans, little is known about risk and protective factors for suicidal ideation in high-risk veteran samples. Thus, this study examined a broad range of risk and protective factors associated with the development of suicidal ideation in a high-risk sample of U.S. veterans who screened positive for current posttraumatic stress disorder (PTSD) and/or major depressive disorder (MDD) . Methods Data were analyzed from the National Health and Resilience in Veterans Study, a nationally representative, prospective cohort study of U.S. veterans. Veterans completed self-report measures to screen for PTSD and MDD and to assess for risk and protective factors. The sample included 222 veterans with PTSD and/or MDD who did not endorse suicidal ideation at baseline and completed at least one assessment over a seven-year follow-up period. A multivariable binary logistic regression analysis was conducted to examine baseline factors associated with incident suicidal ideation. Results Nearly one in three (27.1%) of veterans with PTSD and/or MDD developed suicidal ideation over the seven-year follow-up period. Non-Caucasian race and lower scores on measures of purpose in life, conscientiousness, and frequency of religious service attendance were independently associated with incident suicidal ideation. Lower purpose in life (52.3%) and conscientiousness (33.2%) explained the vast majority of variance in incident suicidal ideation. Conclusion Nearly 30% of veterans with PTSD and/or MDD who did not endorse suicidal ideation at baseline developed suicidal ideation over a seven-year period. Prevention and treatment efforts designed to bolster purpose in life and conscientiousness may help mitigate risk for suicidal ideation in this high-risk population.

Urine Hyperglycosylated hCG Plus Ultrasound Biometry for Detection of Down Syndrome in the Second Trimester in a High-Risk Population

2000 ◽  
Vol 95 (6, Part 1) ◽  
pp. 889-894 ◽  
Author(s):  
RAY BAHADO-SINGH ◽  
UTKU OZ ◽  
SHOHREH SHAHABI ◽  
AZIZA OMRANI ◽  
MAURICE MAHONEY ◽  
...  
Keyword(s):  
Down Syndrome ◽  
High Risk ◽  
High Risk Population ◽  
Second Trimester ◽  
Risk Population

scholarly journals OP01.19: The frequency of Down syndrome (DS) markers in a high-risk population

2006 ◽  
Vol 28 (4) ◽  
pp. 417-417
Author(s):  
S. L. Warsof ◽  
E. H. Duran ◽  
R. Laux ◽  
A. Abuhamad
Keyword(s):  
Down Syndrome ◽  
High Risk ◽  
High Risk Population ◽  
Risk Population

P10.09: First trimester ductus venosus, nasal bones and trisomy 21 in a high-risk population

2004 ◽  
Vol 24 (3) ◽  
pp. 322-322
Author(s):  
F. Prefumo ◽  
A. Bhide ◽  
S. Sairam ◽  
L. Penna ◽  
B. Thilaganathan
Keyword(s):  
High Risk ◽  
Trisomy 21 ◽  
First Trimester ◽  
Ductus Venosus ◽  
High Risk Population ◽  
Risk Population ◽  
Nasal Bones

scholarly journals An Intelligent Prenatal Screening System for the Prediction of Trisomy-21 Using Triple Test Variables: The Hacettepe System

2018 ◽  
pp. 1
Author(s):  
Doruk Cevdi Katlan ◽  
Atakan Tanacan ◽  
Gokcen Orgul ◽  
Kemal Leblebicioglu ◽  
Mehmet Sinan Beksac
Keyword(s):  
Down Syndrome ◽  
High Risk ◽  
Trisomy 21 ◽  
Prenatal Screening ◽  
Learning Algorithm ◽  
Antenatal Screening ◽  
Screening System ◽  
Triple Test ◽  
Beta Human Chorionic Gonadotropin ◽  
Input Variables

<p><strong>Objective:</strong> To introduce an intelligent prenatal screening system, using triple test variables.</p><p><strong>Study Design:</strong> In this study, we have used a backpropagation learning algorithm (a supervised artificial neural network) to develop an intelligent antenatal screening system (heretofore referred as Hacettepe System). Triple test variables were used as input variables, while “Down syndrome” and “non-Down syndrome” fetuses were the output of the algorithm. Unconjugated estriol (E3), beta-human chorionic gonadotropin, and α-feto protein with gestational week and maternal age (triple test) were used as input variables in the training and testing. Multiples of median values of the E3, α-feto protein, and beta-human chorionic gonadotropin were used in this study. <br />The testing group of Hacettepe system consisted of 97 patients who were found to be high-risk (&gt;1/250) during the routine antenatal screening (triple test) and underwent amniocentesis for fetal karyotyping. </p><p><strong>Results:</strong> Amniocentesis was performed in 97 pregnancies with “high-risk” triple test results (&gt;1/250). Fetal karyotyping revealed trisomy 21 in about 9.3% (9/97) of the pregnancies. Our algorithm (Hacettepe System) detected 77.8% (7/9) of Down syndrome cases. Moreover, all of the normal fetal karyotypes were assigned as normal in the Hacettepe System.</p><p><strong>Conclusion:</strong> We have developed an intelligent system using the backpropagation learning algorithm (using triple test variables) to predict trisomy 21.</p>

scholarly journals Self-Harm and Suicide Attempts among High-Risk, Urban Youth in the U.S.: Shared and Unique Risk and Protective Factors

2012 ◽  
Vol 9 (1) ◽  
pp. 178-191 ◽  
Author(s):  
Monica H. Swahn ◽  
Bina Ali ◽  
Robert M. Bossarte ◽  
Manfred Van Dulmen ◽  
Alex Crosby ◽  
...  
Keyword(s):  
High Risk ◽  
Protective Factors ◽  
Urban Youth ◽  
Suicide Attempts ◽  
Risk And Protective Factors ◽  
Self Harm ◽  
The U.S
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