BIROn - Birkbeck Institutional Research Online

    A multi-level developmental approach to exploring individual differences in Down syndrome: genes, brain, behaviour, and environment

    Thomas, Michael and Ojinaga Alfageme, Olatz and D'Souza, H. and Patkee, P. and Rutherford, M. and Mok, K. and Hardy, J. and LonDownS Consortium, - and Karmiloff-Smith, Annette (2020) A multi-level developmental approach to exploring individual differences in Down syndrome: genes, brain, behaviour, and environment. Research in Developmental Disabilities 104 (103638), ISSN 0891-4222.

    [img] Text
    31825.pdf - Author's Accepted Manuscript
    Restricted to Repository staff only

    Download (730kB)
    31825a.pdf - Published Version of Record
    Available under License Creative Commons Attribution.

    Download (3MB) | Preview


    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.


    Item Type: Article
    School: Birkbeck Faculties and Schools > Faculty of Science > School of Psychological Sciences
    Research Centres and Institutes: Brain and Cognitive Development, Centre for (CBCD)
    Depositing User: Michael Thomas
    Date Deposited: 02 Dec 2020 16:53
    Last Modified: 02 Aug 2023 17:59


    Activity Overview
    6 month trend
    6 month trend

    Additional statistics are available via IRStats2.

    Archive Staff Only (login required)

    Edit/View Item Edit/View Item