This article argues that one dominant position in psychology, linguistics, neuroscience, and philosophy about how genetic disorders point to the innate specification of dissociated modules in the human brain should be replaced by a dynamic, neuroconstructivist approach in which genes, brain, cognition, and environment interact multidirectionally. The article challenges current thinking about a series of questions: (a) Do significantly better scores in one domain necessarily indicate an intact module? (b) What do scores in the normal range suggest? (c) What is wrong with mental-age matching? (d) Why is the notion of an intact module unlikely? (e) Do developmental disorders suggest associations rather than dissociations? (f) Is the environment the same for atypically developing individuals? The article concludes by examining the implications of taking a neuroconstructivist approach and by arguing that human intelligence is not a state (i.e., not a collection of static, built-in modules that can be intact or impaired) but a process (i.e., the emergent property over developmental time of dynamic, multidirectional interactions between genes, brain, cognition, behavior, and environment) with domain-specific outcomes impossible without the process of development.

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.

Dyscalculia from a developmental and differential perspective

Background: Down syndrome (DS) is associated with variable intellectual disability and multiple health and psychiatric comorbidities. The impact of such comorbidities on cognitive outcomes is unknown. We aimed to describe patterns of physical health and psychiatric comorbidity prevalence, and receptive language ability, in DS across the lifespan, and determine relationships with cognitive outcomes.Methods: Detailed medical histories were collected and cognitive abilities measured using standardised tests for 602 individuals with DS from England and Wales (age range 3 months to 73 years). Differences in prevalence rates between age groups and between males and females were determined using chi-squared or Fisher’s exact tests. In adults, rates for psychiatric comorbidities were compared to expected population rates using standardised morbidity ratios (SMRs). Adapted ANCOVA functions were constructed to explore age and sex associations with receptive language ability across the lifespan, and regression analyses were performed to determine whether the presence of health comorbidities or physical phenotypes predicted cognitive abilities.Results: Multiple comorbidities showed prevalence differences across the lifespan, though there were few sex differences. In adults, SMRs were increased in males and decreased in females with DS for schizophrenia, bipolar disorder, and anxiety. Further, SMRs were increased in both males and females with DS for dementia, autism, ADHD, and depression, with differences more pronounced in females for dementia and autism, and in males for depression. Across the lifespan, receptive language abilities increasingly deviated from age-typical levels, and males scored poorer than females. Only autism and epilepsy were associated with poorer cognitive ability in those aged 16–35 years, with no relationships for physical health comorbidities, including congenital heart defects.Conclusions: Our results indicate the prevalence of multiple comorbidities varies across the lifespan in DS, and in adults, rates for psychiatric comorbidities show different patterns for males and females relative to expected population rates. Further, most health comorbidities are not associated with poorer cognitive outcomes in DS, apart from autism and epilepsy. It is essential for clinicians to consider such differences to provide appropriate care and treatment for those with DS and to provide prognostic information relating to cognitive outcomes in those with comorbidities.

One might expect that children with varying genetic mutations or children raised in low socioeconomic status environments would display different deficits. Although this expectation may hold for phenotypic outcomes in older children and adults, cross-syndrome comparisons in infancy reveal many common neural and sociocognitive deficits. The challenge is to track dynamic trajectories over developmental time rather than focus on end states like in adult neuropsychological studies. We contrast the developmental and adult approaches with examples from the cognitive and social domains, and we conclude that static models of adult brain lesions cannot be used to account for the dynamics of change in genetic and environmentally induced disorders in children.

This paper maintains that neither a domain-general nor a domain-specific framework is appropriate for furthering our understanding of human evolution and ontogenesis. Rather, as we learn increasingly more about the dynamics of gene-environment interaction and gene expression, theorists should consider a third alternative: a domain-relevant approach, which argues that the infant brain comes equipped with biases that are relevant to, but not initially specific to, processing different kinds of input. The hypothesis developed here is that domain-specific core knowledge/specialized functions do not constitute the start state; rather, functional specialization emerges progressively through neuronal competition over developmental time. Thus, the existence of category-specific deficits in brain-damaged adults cannot be used to bolster claims that category-specific or domain-specific modules underpin early development, because neural specificity in the adult brain is likely to have been the emergent property over time of a developing, self-structuring system in interaction with the environment.