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Behavioral phenotypes of genetic syndromes with intellectual disability: Comparison of adaptive profiles

The study of distinctive and consistent behaviors in the most common genetic syndromes with intellectual disability is useful to explain abnormalities or associated psychiatric disorders. The behavioral phenotypes revealed outcomes totally or partially specific for each syndrome. The aim of our study was to compare similarities and differences in the adaptive profiles of the five most frequent genetic syndromes, i.e. Down syndrome, Williams syndrome, Angelman syndrome, Prader-Willi syndrome, and Fragile-X syndrome (fully mutated), taking into account the relation with chronological age and the overall IQ level. The research was carried out using the Vineland Adaptive Behavior Scale (beside the Wechsler Intelligence scales to obtain IQ) with a sample of 181 persons (107 males and 74 females) showing genetic syndromes and mental retardation. Syndrome-based groups were matched for chronological age and mental age (excluding the Angelman group, presenting with severe mental retardation). Similarities and differences in the adaptive profiles are described, relating them to IQs and maladaptive behaviors. The results might be useful in obtaining a global index of adjustment for the assessment of intellectual disability level as well as for educational guidance and rehabilitative plans.

Physical and Cognitive Stimulation in Alzheimer Disease. The GAIA Project A Pilot Study

Several data suggest that physical activity and cognitive stimulation have a positive effect on the quality of life (QoL) of people with Alzheimer’s disease (AD), slowing the decline due to the disease. A pilot project was undertaken to assess the effect of cognitive stimulation, physical activity, and socialization on patients with AD and their informal caregiver’s QoL and mood. Fourteen patients with AD were randomly divided into active treatment group and control group. At the end of treatment, a significant improvement in apathy, anxiety, depression, and QoL in the active treatment group was found. Considering caregivers, those of the active treatment group exhibited a significant improvement in their mood and in their perception of patients’ QoL. This study provides evidence that a combined approach based on cognitive stimulation, physical activity, and socialization is a feasible tool to improve mood and QoL in patients with AD and their caregivers.

Relationships between visual-motor and cognitive abilities in intellectual disabilities.

The neurobiological hypothesis supports the relevance of studying visual-perceptual and visual-motor skills in relation to cognitive abilities in intellectual disabilities because the defective intellectual functioning in intellectual disabilities is not restricted to higher cognitive functions but also to more basic functions. The sample was 102 children 6 to 16 years old and with different severities of intellectual disabilities. Children were administered the Wechsler Intelligence Scale for Children, the Bender Visual Motor Gestalt Test, and the Developmental Test of Visual Perception, and data were also analysed according to the presence or absence of organic anomalies, which are etiologically relevant for mental disabilities. Children with intellectual disabilities had deficits in perceptual organisation which correlated with the severity of intellectual disabilities. Higher correlations between the spatial subtests of the Developmental Test of Visual Perception and the Performance subtests of the Wechsler Intelligence Scale for Children suggested that the spatial skills and cognitive performance may have a similar basis in information processing. Need to differentiate protocols for rehabilitation and intervention for recovery of perceptual abilities from general programs of cognitive stimulations is suggested.

2013 Special Issue: Autonomous learning in humanoid robotics through mental imagery

In this paper we focus on modeling autonomous learning to improve performance of a humanoid robot through a modular artificial neural networks architecture. A model of a neural controller is presented, which allows a humanoid robot iCub to autonomously improve its sensorimotor skills. This is achieved by endowing the neural controller with a secondary neural system that, by exploiting the sensorimotor skills already acquired by the robot, is able to generate additional imaginary examples that can be used by the controller itself to improve the performance through a simulated mental training. Results and analysis presented in the paper provide evidence of the viability of the approach proposed and help to clarify the rational behind the chosen model and its implementation.

Role of the Transforming-Growth-Factor-β1 Gene in Late-Onset Alzheimer's Disease: Implications for the Treatment.

Late-onset Alzheimers disease (LOAD) is the most common form of dementia in the elderly. LOAD has a complex and largely unknown etiology with strong genetic determinants. Genetics of LOAD is known to involve several genetic risk factors among which the Apolipoprotein E (APOE) gene seems to be the major recognized genetic determinant. Recent efforts have been made to identify other genetic factors involved in the pathophysiology of LOAD such as genes associated with a deficit of neurotrophic factors in the AD brain. Genetic variations of neurotrophic factors, such as brain-derived neurotrophic factor (BDNF), and transforming-growth-factor-β1 (TGF-β1) are known to increase the risk to develop LOAD and have also been related to depression susceptibility in LOAD. Transforming-Growth-Factor-β1 (TGF-β1) is a neurotrophic factor that exerts neuroprotective effects against ß-amyloid-induced neurodegeneration. Recent evidence suggests that a specific impairment in the signaling of TGF-β is an early event in the pathogenesis of AD. TGF-β1 protein levels are predominantly under genetic control, and the TGF-β1 gene, located on chromosome 19q13.1-3, con-tains several single nucleotide polymorphisms (SNPs) upstream and in the transcript region, such as the SNP at codon +10 (T/C) and +25 (G/C), which is known to influence the level of expression of TGF-β1. In the present review, we summarize the current literature on genetic risk factors for LOAD, focusing on the role of the TGF-β1 gene, finally discussing the possible implications of these genetic studies for the selection of patients eligible for neuroprotective strategies in AD.

An inflammatory and trophic disconnect biomarker profile revealed in Down syndrome plasma: Relation to cognitive decline and longitudinal evaluation

Given that Alzheimers pathology develops silently over decades in Down syndrome (DS), prognostic biomarkers of dementia are a major need.

Making fingers and words count in a cognitive robot.

Evidence from developmental as well as neuroscientific studies suggest that finger counting activity plays an important role in the acquisition of numerical skills in children. It has been claimed that this skill helps in building motor-based representations of number that continue to influence number processing well into adulthood, facilitating the emergence of number concepts from sensorimotor experience through a bottom-up process. The act of counting also involves the acquisition and use of a verbal number system of which number words are the basic building blocks. Using a Cognitive Developmental Robotics paradigm we present results of a modeling experiment on whether finger counting and the association of number words (or tags) to fingers, could serve to bootstrap the representation of number in a cognitive robot, enabling it to perform basic numerical operations such as addition. The cognitive architecture of the robot is based on artificial neural networks, which enable the robot to learn both sensorimotor skills (finger counting) and linguistic skills (using number words). The results obtained in our experiments show that learning the number words in sequence along with finger configurations helps the fast building of the initial representation of number in the robot. Number knowledge, is instead, not as efficiently developed when number words are learned out of sequence without finger counting. Furthermore, the internal representations of the finger configurations themselves, developed by the robot as a result of the experiments, sustain the execution of basic arithmetic operations, something consistent with evidence coming from developmental research with children. The model and experiments demonstrate the importance of sensorimotor skill learning in robots for the acquisition of abstract knowledge such as numbers.

Technology-based programs to support forms of leisure engagement and communication for persons with multiple disabilities: Two single-case studies

Objective: To extend the assessment of technology-based programs for promoting stimulus choice and staff/caregiver calls or radio operation and text messaging. Method: In Study I, the program involved a portable computer, commercial software, and a microswitch to allow a man with motor impairment and moderate intellectual disability to choose among preferred stimuli (e.g., songs and film clips) and persons to call. In Study II, the programs involved (a) a radio device and an electronic control unit or (b) a net-book computer and a global system for mobile communication. A woman with blindness and moderate intellectual disability used a microswitch to operate the radio or send and listen to text messages. Results: The participants succeeded in using the technology-aided programs through simple microswitch activations involving partial hand closure (Study I) or hand pressure (Study II). Conclusion: Technology-based programs can provide persons with multiple disabilities relevant leisure and communication opportunities.

Mental practice and verbal instructions execution: A cognitive robotics study

Understanding the tight relationship that exists between mental imagery and motor activities (i.e. how images in the mind can influence movements and motor skills) has become a topic of interest and is of particular importance in domains in which improving those skills is crucial for obtaining better performance, such as in sports and rehabilitation. In this paper, using an embodied cognition approach and a cognitive robotics platform, we introduce initial results of an ongoing study that explores the impact linguistic stimuli could have in processes of mental imagery practice and subsequent motor execution and performance. Results are presented to show that the robot used, is able to “imagine” or “mentally” recall and accurately execute movements learned in previous training phases, strictly on the basis of the verbal commands issued. Further tests show that data obtained with “imagination” could be used to simulate “mental training” processes such as those that have been employed with human subjects in sports training, in order to enhance precision in the performance of new tasks, through the association of different verbal commands.

Robots in education and care of children with developmental disabilities : a study on acceptance by experienced and future professionals

Research in the area of robotics has made available numerous possibilities for further innovation in the education of children, especially in the rehabilitation of those with learning difficulties and/or intellectual disabilities. Despite the scientific evidence, there is still a strong scepticism against the use of robots in the fields of education and care of people. Here we present a study on the acceptance of robots by experienced practitioners (specialized in the treatment of intellectual disabilities) and university students in psychology and education sciences (as future professionals). The aim is to examine the factors, through the Unified Theory of Acceptance and Use of Technology (UTAUT) model, that may influence the decision to use a robot as an instrument in the practice. The overall results confirm the applicability of the model in the context of education and care of children, and suggest a positive attitude towards the use of the robot. The comparison highlights some scepticism among the practitioners, who perceive the robot as an expensive and limited tool, while students show a positive perception and a significantly higher willingness to use the robot. From this experience, we formulate the hypothesis that robots may be accepted if more integrated with standard rehabilitation protocols in a way that benefits can outweigh the costs.