The importance of understanding individual differences in Down syndrome [version 1; referees: 2 approved]
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 t...
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2016-03-01
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| Online Access: | http://f1000research.com/articles/5-389/v1 |
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doaj-bb058b43bffa4d67938df02e21160e7a2020-11-25T03:20:37ZengF1000 Research LtdF1000Research2046-14022016-03-01510.12688/f1000research.7506.18085The importance of understanding individual differences in Down syndrome [version 1; referees: 2 approved]Annette Karmiloff-Smith0Tamara Al-Janabi1Hana D'Souza2Jurgen Groet3Esha Massand4Kin Mok5Carla Startin6Elizabeth Fisher7John Hardy8Dean Nizetic9Victor Tybulewicz10Andre Strydom11The London Down Syndrome Consortium (LonDownS), University College London, London, UKDivision of Psychiatry, University College London, London, W1T 7NF, UKThe London Down Syndrome Consortium (LonDownS), University College London, London, UKThe Blizard Institute, Barts & The London School of Medicine, Queen Mary University of London, London, E1 2AT, UKThe London Down Syndrome Consortium (LonDownS), University College London, London, UKDivision of Life Science, Hong Kong University of Science and Technology, Hong Kong SAR, ChinaDivision of Psychiatry, University College London, London, W1T 7NF, UKDepartment of Neurodegenerative Disease, Institute of Neurology, London, WC1N 3BG, UKDepartment of Molecular Neuroscience, University College London Institute of Neurology, London, WC1N 3BG, UKLee Kong Chian School of Medicine, Nanyang Technological University, Biopolis, 138673, SingaporeDepartment of Medicine, Imperial College London, London, W12 0NN, UKDivision of Psychiatry, University College London, London, W1T 7NF, UKIn 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.http://f1000research.com/articles/5-389/v1Behavioral NeuroscienceCognitive Neurology & DementiaCognitive NeuroscienceDevelopmental & Pediatric NeurologyMedical GeneticsNeural HomeostasisNeurobiology of Disease & RegenerationNeurodevelopmentNeurogenetics |
| collection |
DOAJ |
| language |
English |
| format |
Article |
| sources |
DOAJ |
| author |
Annette Karmiloff-Smith Tamara Al-Janabi Hana D'Souza Jurgen Groet Esha Massand Kin Mok Carla Startin Elizabeth Fisher John Hardy Dean Nizetic Victor Tybulewicz Andre Strydom |
| spellingShingle |
Annette Karmiloff-Smith Tamara Al-Janabi Hana D'Souza Jurgen Groet Esha Massand Kin Mok Carla Startin Elizabeth Fisher John Hardy Dean Nizetic Victor Tybulewicz Andre Strydom The importance of understanding individual differences in Down syndrome [version 1; referees: 2 approved] F1000Research Behavioral Neuroscience Cognitive Neurology & Dementia Cognitive Neuroscience Developmental & Pediatric Neurology Medical Genetics Neural Homeostasis Neurobiology of Disease & Regeneration Neurodevelopment Neurogenetics |
| author_facet |
Annette Karmiloff-Smith Tamara Al-Janabi Hana D'Souza Jurgen Groet Esha Massand Kin Mok Carla Startin Elizabeth Fisher John Hardy Dean Nizetic Victor Tybulewicz Andre Strydom |
| author_sort |
Annette Karmiloff-Smith |
| title |
The importance of understanding individual differences in Down syndrome [version 1; referees: 2 approved] |
| title_short |
The importance of understanding individual differences in Down syndrome [version 1; referees: 2 approved] |
| title_full |
The importance of understanding individual differences in Down syndrome [version 1; referees: 2 approved] |
| title_fullStr |
The importance of understanding individual differences in Down syndrome [version 1; referees: 2 approved] |
| title_full_unstemmed |
The importance of understanding individual differences in Down syndrome [version 1; referees: 2 approved] |
| title_sort |
importance of understanding individual differences in down syndrome [version 1; referees: 2 approved] |
| publisher |
F1000 Research Ltd |
| series |
F1000Research |
| issn |
2046-1402 |
| publishDate |
2016-03-01 |
| description |
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. |
| topic |
Behavioral Neuroscience Cognitive Neurology & Dementia Cognitive Neuroscience Developmental & Pediatric Neurology Medical Genetics Neural Homeostasis Neurobiology of Disease & Regeneration Neurodevelopment Neurogenetics |
| url |
http://f1000research.com/articles/5-389/v1 |
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