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1
A multi-level developmental approach to exploring individual differences in Down syndrome: genes, brain, behaviour, and environment
In: Res Dev Disabil (2020)
Abstract: In this article, we focus on the causes of individual differences in Down syndrome (DS), exemplifying the multi-level, multi-method, lifespan developmental approach advocated by Karmiloff-Smith (1998, 2009, 2012, 2016). We evaluate the possibility of linking variations in infant and child development with variations in the (elevated) risk for Alzheimer’s disease (AD) in adults with DS. We review the theoretical basis for this argument, considering genetics, epigenetics, brain, behaviour and environment. In studies 1 and 2, we focus on variation in language development. We utilise data from the MacArthur-Bates Communicative Development Inventories (CDI; Fenson et al., 2007), and Mullen Scales of Early Learning (MSEL) receptive and productive language subscales (Mullen, 1995) from 84 infants and children with DS (mean age 2;3, range 0;7 to 5;3). As expected, there was developmental delay in both receptive and expressive vocabulary and wide individual differences. Study 1 examined the influence of an environmental measure (socio-economic status as measured by parental occupation) on the observed variability. SES did not predict a reliable amount of the variation. Study 2 examined the predictive power of a specific genetic measure (apolipoprotein APOE genotype) which modulates risk for AD in adulthood. There was no reliable effect of APOE genotype, though weak evidence that development was faster for the genotype conferring greater AD risk (ε4 carriers), consistent with recent observations in infant attention (D’Souza, Mason et al., 2020). Study 3 considered the concerted effect of the DS genotype on early brain development. We describe new magnetic resonance imaging methods for measuring prenatal and neonatal brain structure in DS (e.g., volumes of supratentorial brain, cortex, cerebellar volume; Patkee et al., 2019). We establish the methodological viability of linking differences in early brain structure to measures of infant cognitive development, measured by the MSEL, as a potential early marker of clinical relevance. Five case studies are presented as proof of concept, but these are as yet too few to discern a pattern.
Keyword: Article
URL: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7438975/
http://www.ncbi.nlm.nih.gov/pubmed/32653761
https://doi.org/10.1016/j.ridd.2020.103638
BASE
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2
Syndromic Autism: progressing beyond current levels of description
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3
Bilingual children show an advantage in controlling verbal interference during spoken language comprehension
Bright, P.; Filippi, R.; Marian, V.. - : Cambridge University Press, 2015
BASE
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4
Audio-visual speech perception: a developmental ERP investigation
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5
Neuroconstructivism
In: The Wiley-Blackwell handbook of childhood cognitive development (Malden, Mass., 2011), p. 723-748
MPI für Psycholinguistik
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6
Definitions versus categorization: assessing the development of lexico-semantic knowledge in Williams syndrome
Purser, Harry; Thomas, Michael S.C.; Snoxall, Sarah. - : Wiley Blackwell, 2011
BASE
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7
Cognition: the developmental trajectory approach
Thomas, Michael S.C.; Purser, Harry; van Herwegen, J.. - : Oxford University Press, 2011
BASE
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8
The development of metaphorical language comprehension in typical development and in Williams syndrome
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9
Comprehension of metaphor and metonymy in children with Williams syndrome
BASE
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10
A cross-syndrome study of the development of holistic face recognition in children with autism, Down syndrome, and Williams syndrome
BASE
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11
Speeded naming, frequency and the development of the lexicon in Williams syndrome
Thomas, Michael S.C.; Dockrell, J.E.; Messer, D.. - : Taylor & Francis, 2006
BASE
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12
Love is . . . an abstract word: the influence of phonological and semantic factors on verbal short-term memory in Williams syndrome
Grant, J.; Ewing, S.; Laing, E.. - : Elsevier, 2005
BASE
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13
Can developmental disorders be used to bolster claims from evolutionary psychology? a neuroconstructivist approach
Karmiloff-Smith, Annette; Thomas, Michael S.C.. - : Taylor & Francis, 2004
BASE
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14
Modelling language acquisition in atypical phenotypes
Thomas, Michael S.C.; Karmiloff-Smith, Annette. - : American Psychological Association, 2003
BASE
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15
Modeling typical and atypical cognitive development : computational constraints on mechanisms of change
In: Blackwell handbook of childhood cognitive development (Oxford, 2002), p. 575-599
MPI für Psycholinguistik
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16
Developmental disorders
BASE
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17
Past tense formation in Williams syndrome
In: Language and cognitive processes. - Abingdon : Routledge, Taylor & Francis Group 16 (2001) 2-3, 143-176
OLC Linguistik
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