Preschoolers with Down syndrome do not yet show the learning and memory impairments seen in adults with Down syndrome

Individuals with Down syndrome (DS) exhibit a behavioral phenotype of specific strengths and weaknesses, in addition to a generalized cognitive delay. In particular, adults with DS exhibit specific deficits in learning and memory processes that depend on the hippocampus, and there is some suggestion of impairments on executive function tasks that depend on the prefrontal cortex. While these functions have been investigated in adults with DS, it is largely unclear how these processes develop in young children with DS. Here we tested preschoolers with DS and typically developing children, age‐matched on either receptive language or non‐verbal scores as a proxy for mental age (MA), on a battery of eye‐tracking and behavioral measures that have been shown to depend on the hippocampus or the prefrontal cortex. Preschoolers with DS performed equivalently to MA‐matched controls, suggesting that the disability‐specific memory deficits documented in adults with DS, in addition to a cognitive delay, are not yet evident in preschoolers with DS, and likely emerge progressively with age. Our results reinforce the idea that early childhood may be a critical time frame for targeted early intervention. A video abstract of this article can be viewed at https://www.youtube.com/watch?v=r6GUA6my22Q&list=UU3FIcom6UpITHZOIEa8Onnw     

The development of route learning in Down syndrome,Williams syndrome and typical development: investigations with virtual environments

The ability to navigate new environments has a significant impact on the daily life and independence of people with learning difficulties. The aims of this study were to investigate the development of route learning in Down syndrome (N = 50), Williams syndrome (N = 19), and typically developing children between 5 and 11 years old (N = 108); to investigate use of landmarks; and to relate cognitive functions to route‐learning ability in these groups. Overall, measures of attention and long‐term memory were strongly associated with route learning, even once non‐verbal ability was controlled for. All of the groups, including 5‐ to 6‐year‐old TD children, demonstrated the ability to make use of all landmark types to aid route learning; those near junctions, those further from junctions, and also distant landmarks (e.g. church spire, radio mast). Individuals with WS performed better than a matched subset of TD children on more difficult routes; we suggest that this is supported by relatively strong visual feature recognition in the disorder. Participants with DS who had relatively high levels of non‐verbal ability performed at a similar level to TD participants.     

Down syndrome: progress in research

This review discusses the research published in the last five years on the behavioral, genetic, medical, and neuroscience aspects of Down syndrome. The subject areas that have experienced the most active research include Alzheimer disease, language development, leukemia, and pregnancy screening and diagnosis. These and other areas are reviewed.     

Down syndrome: cognitive phenotype

Down syndrome is the most prevalent cause of intellectual impairment associated with a genetic anomaly, in this case, trisomy of chromosome 21. It affects both physical and cognitive development and produces a characteristic phenotype, although affected individuals vary considerably with respect to severity of specific impairments. Studies focusing on the cognitive characteristics of Down syndrome were reviewed, and while performance in most areas could be predicted based upon overall intellectual disability, relative weaknesses were consistently found to be associated with expressive language, syntactic/morphosyntactic processing, and verbal working memory. This profile of uneven deficits could result from a failure to develop typically automatic processing for speech perception and production, and this possibility is discussed along with its implications for intervention.     

Alzheimer's disease in Down syndrome: neurobiology and risk

Down syndrome (DS) is characterized by increased mortality rates, both during early and later stages of life, and age-specific mortality risk remains higher in adults with DS compared with the overall population of people with mental retardation and with typically developing populations. Causes of increased mortality rates early in life are primarily due to the increased incidence of congenital heart disease and leukemia, while causes of higher mortality rates later in life may be due to a number of factors, two of which are an increased risk for Alzheimer's disease (AD) and an apparent tendency toward premature aging. In this article, we describe the increase in lifespan for people with DS that has occurred over the past 100 years, as well as advances in the understanding of the occurrence of AD in adults with DS. Aspects of the neurobiology of AD, including the role of amyloid, oxidative stress, Cu/ZN dismutase (SOD-1), as well as advances in neuroimaging are presented. The function of risk factors in the observed heterogeneity in the expression of AD dementia in adults with DS, as well as the need for sensitive and specific biomarkers of the clinical and pathological progressing of AD in adults with DS is considered.     

Living with support in the community: predictors of choice and self-determination

Ensuring that people with intellectual disability experience typical levels of choice and self-determination has become an essential objective for quality disability services. Three perspectives on self-determination were identified in the literature: psycho-educational, ecological, and socio-political. Personal characteristics, specific self-determination competencies, and environmental variables all were found to be associated with choice and self-determination. Living environments that were smaller and more individualized were linked to greater choice and self-determination. The theoretical perspective investigators applied to the issues influenced approaches to research and intervention, and differences in emphasis were evident regarding the relative importance of self-determination competencies and environmental factors. MRDD Research Reviews 7:91-98, 2001.     

Living with support in a home in the community: predictors of behavioral development and household and community activity

The purpose of this article was to review studies of behavioral development and household and community activity among adults with mental retardation living in community residential services and to distill knowledge about the factors that influence outcome. Research points to behavioral development occurring across the full spectrum of disability but influenced by mental retardation syndrome and the acquisition of pivotal skills. However, engagement in household and community activities has been found to be strongly related to individual adaptive behavior. People with more severe mental retardation are vulnerable to leading lives characterized by underoccupation and lack of community involvement. Moving from institutional to community-based residential services may be accompanied by significant increases in adaptive behavior, but a plateau effect on subsequent development has also been reported. There is substantial evidence to suggest that key aspects of effective teaching technology may be absent in community-based residential environments. Community settings support greater engagement in household and community activities than institutions. Ordinary housing stock and normative architecture and standards of material enrichment are to be preferred. The use of normative housing constrains group living to relatively small scale, but there is little evidence that smaller size within this range is to be preferred to larger size. There is little evidence to suggest that higher staff-to-resident ratios lead to uniformly better outcomes, but staff orientation, working methods, and performance are important influences. Little is known about what precise characteristics of community location give rise to greater community integration. MRDD Research Reviews 7:75-83, 2001.     

Language and communication development in Down syndrome

Although there is considerable variability, most individuals with Down syndrome have mental retardation and speech and language deficits, particularly in language production and syntax and poor speech intelligibility. This article describes research findings in the language and communication development of individuals with Down syndrome, first briefly describing the physical and cognitive phenotype of Down syndrome, and two communication related domains-hearing and oral motor skills. Next, we describe language development in Down syndrome, focusing on communication behaviors in the prelinguistic period, then the development of language in children and adolescents, and finally language development in adults and the aging period. We describe language development in individuals with Down syndrome across four domains: phonology, semantics, syntax, and pragmatics. Wethen suggest strategies for intervention and directions for research relating to individuals with Down syndrome.     

Living with support in the community: predictors of satisfaction with life

Ensuring that people with an intellectual disability have normative levels of life satisfaction is increasingly considered a worthy goal for service providers. This review concerns the determinants of such satisfaction and embeds this literature within the Homeostatic Theory of Subjective Well-Being. This posits that life satisfaction is under considerable endogenous control and, as a consequence, does not normally vary in sympathy with changes in the external environment. This situation changes, however, if the environment is sufficiently aversive to defeat such homeostatic control. Under these conditions the circumstances of living correlate with life satisfaction as they wrest control away from the homeostatic system. One important implication is that the measure of life satisfaction may or may not be a sensitive indicator for changes in service provision, depending on the functional status of the homeostatic system. MRDD Research Reviews 7:99-104, 2001. (c) 2001 Wiley-Liss, Inc.     

Epidemiology of Down syndrome

Down syndrome (DS) is the most commonly identified genetic form of mental retardation and the leading cause of specific birth defects and medical conditions. Traditional epidemiological studies to determine the prevalence, cause, and clinical significance of the syndrome have been conducted over the last 100 years. DS has been estimated to occur in approximately 1 in 732 infants in the United States, although there is some evidence that variability in prevalence of estimates exist among racial/ethnic groups. Progress has been made in characterizing the specific types of chromosome errors that lead to DS and in identifying associated factors that increase the risk of chromosome 21 malsegregation, i.e., advanced maternal age and recombination. Studies to examine the variability of the presence of specific DS-associated birth defects and medical conditions provide evidence for genetic and environmental modifiers. Here, we provide a brief survey of studies that address the current state of the field and suggest gaps in research that can soon be filled with new multidisciplinary approaches and technological advances.     

Facial emotion recognition in Williams syndrome and Down syndrome: A matching and developmental study

In this study both the matching and developmental trajectories approaches were used to clarify questions that remain open in the literature on facial emotion recognition in Williams syndrome (WS) and Down syndrome (DS). The matching approach showed that individuals with WS or DS exhibit neither proficiency for the expression of happiness nor specific impairments for negative emotions. Instead, they present the same pattern of emotion recognition as typically developing (TD) individuals. Thus, the better performance on the recognition of positive compared to negative emotions usually reported in WS and DS is not specific of these populations but seems to represent a typical pattern. Prior studies based on the matching approach suggested that the development of facial emotion recognition is delayed in WS and atypical in DS. Nevertheless, and even though performance levels were lower in DS than in WS, the developmental trajectories approach used in this study evidenced that not only individuals with DS but also those with WS present atypical development in facial emotion recognition. Unlike in the TD participants, where developmental changes were observed along with age, in the WS and DS groups, the development of facial emotion recognition was static. Both individuals with WS and those with DS reached an early maximum developmental level due to cognitive constraints.     

Memory coding in individuals with Down syndrome

Previous research has identified a deficit in phonological short-term memory in individuals with Down syndrome.

The present work aimed to analyze how a group of 30 individuals with Down syndrome performed in a picture span task compared with 30 typically developing children of the same mental age. The task involved four conditions (i.e., dissimilar, phonologically similar, visually similar, and long-name items) chosen to analyze the strategy used by individuals with Down syndrome to code visually presented nameable items.

Individuals with Down syndrome performed less well than typically developing children. Both groups showed the visual similarity effect.

Taken together, our results confirm that individuals with Down syndrome have a verbal working memory deficit, even when nameable items are presented visually. Mental age appears to be an important determinant of memory coding stage in individuals with Down syndrome.     

The relationships among verbal short-term memory, phonological awareness, and new word learning: evidence from typical development and Down syndrome

This study examined the correlates of new word learning in a sample of 64 typically developing children between 5 and 8 years of age and a group of 22 teenagers and young adults with Down syndrome. Verbal short-term memory and phonological awareness skills were assessed to determine whether learning new words involved accurately representing phonological information in memory. Results showed a relationship between verbal short-term memory measures and typically developing individuals’ ability to learn the phonological form of novel words but not their ability to learn the physical referent of new words. Similarly, individuals with Down syndrome showed impaired verbal short-term memory and impaired form but not referent learning. Together, these findings specify the circumstances in which an accurate phonological representation within short-term memory is required for new word learning.     

Prehension in young children with Down syndrome

Prehension was examined in 3-year old children with Down syndrome (DS, n = 3) and in typically-developing children matched in chronological age (3-year olds; n = 3) or mental age and motor experience (2-year olds; n = 3). The task required reaching to grasp dowels. Video-based movement analysis yielded temporal and kinematic measures. Children with DS were hypothesized to have deficits in feedback-dependent components of prehension (anticipatory grip-closure and deceleration of reach), whereas feedforward components (reach's acceleration phase; grasp's preshaping) were assumed to be unimpaired [Latash, 1993, Control of human movement, pp. 283-292; Latash, 1994, What is clumsiness? In: Motor Control and Down Syndrome II Proceedings of the second international conference, pp. 68-71]. The findings supported these hypotheses. In comparison to control groups, children with DS had significantly: (a) less time in deceleration of reaching, (b) fewer anticipatory grip-closures, and (c) longer movement times for dowel-lift. Young children with DS appeared to use dowel-contact to decelerate the limb and initiate grip-closure. In contrast, reach-acceleration time and grasp-preshaping did not differ across groups. These findings suggest that children with DS display qualitative differences in motor capabilities rather than simply a delayed rate of typical developmental progression.     

At home with Down syndrome and gender

I argue that there is an important analogy between sex selection and selective abortion of fetuses diagnosed with Down syndrome. There are surprising parallels between the social construction of Down syndrome as a disability and the deeply entrenched institutionalization of sexual difference in many societies. Prevailing concepts of gender and mental retardation exert a powerful influence in constructing the sexual identities and life plans of people with Down syndrome, and also affect their families' lives.     

Complementary and alternative therapies for Down syndrome

In their role as committed advocates, parents of children with Down syndrome have always sought alternative therapies, mainly to enhance cognitive function but also to improve their appearance. Nutritional supplements have been the most frequent type of complementary and alternative therapy used. Cell therapy, plastic surgery, hormonal therapy, and a host of other therapies such as massage therapy have been used. There is a lack of well-designed scientific studies on the use of alternative therapies in individuals with Down syndrome. Antioxidants hold theoretical promise for treatment of the cognitive, immune, malignancy, and premature aging problems associated with Down syndrome. Medications for treatment of Alzheimer's disease may also result in benefit for the population of individuals with Down syndrome.     

Spatial-simultaneous working memory and selective interference in Down syndrome

Several studies have suggested that individuals with Down syndrome (DS) have impairments in some aspects of the visuospatial domain. It has been reported that they are particularly impaired in the spatial-simultaneous working memory (WM) even in advantageous conditions such as when information is grouped to form a configuration. This study aimed to assess the performance of individuals with DS carrying out a spatial-simultaneous WM task in single and dual selective interference conditions in order to better explore the characteristics of their impairment in this area.

Groups of individuals with DS and mentally age-matched typically developing (TD) children were asked to carry out a spatial-simultaneous WM task in a single- and in two dual-task conditions. In the single condition, the participants were required to recall an increasing number of positions of red squares presented simultaneously in a matrix. In the dual-task conditions, together with the spatial-simultaneous WM task, the participants were asked to carry out an articulatory suppression task or a tapping task.

As has already been shown in other studies, individuals with DS were found to be impaired in carrying out a spatial-simultaneous WM task and showed a worse performance with respect to the TD group in both the conditions.

These findings indicate that individuals with DS use the same coding modality as TD children of the same mental age. Just as the TD children, they performed lower in the dual- than in the single-task condition and there was no difference between the verbal and visuospatial conditions.     

Psychiatric and behavioral disorders in persons with Down syndrome

Similar to the state of the broader intellectual disabilities field, many gaps exist in the research and treatment of mental health concerns in people with Down syndrome. This review summarizes key findings on the type and prevalence of behavior and emotional problems in children, adolescents, and adults with Down syndrome. Such findings include relatively low rates of severe problems in children, and well-documented risks of depression and Alzheimer's disease in older adults. The review also considers emerging data on autism, and the paucity of studies on adolescents. Three next steps for research are highlighted, including a need to: (1) connect research on psychiatric status and diagnoses across developmental periods, including adolescence, and to examine such associated processes as sociability, anxiety and attention; (2) unravel complicated biopsycho-social risk and protective factors that serve to increase or diminish psychopathology; and (3) identify evidence-based treatments that both reduce distressful symptoms and enhance well-being in individuals with Down syndrome.     

Hopping skill in individuals with Down syndrome: A qualitative and quantitative assessment

IntroductionIndividuals with Down syndrome (DS) show a delayed acquisition of gross motor skills. Among gross motor skills, hopping is a particular form of jumping that can be performed using one leg. Despite its large use during play and physical activity, this skill in adults with DS has not received much attention so far. Here, we aim at investigating hopping skill in adults with DS both from a quantitative and qualitative point of view.MethodsCenter of mass and dominant leg kinematics during hopping over distance were recorded from 24 adult individuals with DS and from 21 typically developed adults (TD) using two inertial measurement units positioned on the posterior aspect of the lower back and on the lateral malleolus of the hopping leg. From linear acceleration and angular velocity signals, hopping frequency (HF), cycle, stance and flight duration (CD, SD, FD), vertical stiffness (K_V) and peak to peak linear acceleration and angular velocities about the cranio-caudal, antero-posterior and medio-lateral axes were extracted. A qualitative process assessment of the hopping skill was carried out using the performance criteria of the test for gross motor development (TGMD-3). The extracted parameters were submitted to analysis of covariance, with stature as a covariate to rule-out possible confounding effects.ResultsThe qualitative assessment highlighted a poorer hopping performance in the DS group compared to the TD group. DS participants showed higher HF and K_V, shorter CD, SD, FD and lower angular velocity about the cranio-caudal axis compared to the TD group. Significant correlations between the temporal parameters of the quantitative assessment and the results of the qualitative assessment were observed.DiscussionThe poorer motor competence in hopping in individuals with DS compared to TD peers may be related to the shorter flight time and higher vertical stiffness observed in TD peers. The adopted instrumental approach, overcoming the limitations of subjective evaluations, represents a promising opportunity to quantify motor competence in hopping.