Quality of life and psychological well-being in GH-treated, adult PWS patients: a longitudinal study.

BACKGROUND: Prader-Willi syndrome (PWS) is a congenital alteration of chromosome pair 15. It is characterized by short stature, muscular hypotonia, hyperphagia, obesity, behavioural and emotional disturbances, hypogonadism and partial Growth Hormone (GH) deficiency. The aim of this study was to assess the long-term effect of GH treatment on the psychological well-being and Quality of Life (QoL) in an adult PWS group. METHODS: A total of 13 PWS patients, their diagnosis confirmed by genetic tests, and their parents were recruited for this study. The participants were administered the 36-Items Short Form Health Survey (SF-36) and the Psychological General Well-Being Index (PGWBI), for the assessment of QoL and psychological well-being, at the beginning of GH treatment, and at following intervals of 6, 12 and 24 months. Modified versions of the same questionnaires were given to the parents. RESULTS: Significant improvement with respect to the baseline was found, on both scales, in the evaluation of both physical and psychological well-being, although the parents' evaluation was less optimistic than that of the patients. CONCLUSION: Our findings suggest that the amelioration of QoL and psychological status is sustained in patients who continue GH treatment.

Decision-making in obesity: a study using the Gambling Task.

The present study addresses the issue of whether a "decision-making disorder" could account for the behavioral problems of severely obese patients (BMI score >34) who are not classified by traditional psychiatric Eating Disorder tests. The neuropsychological test employed, the Gambling Task (GT), is not directly related to the food domain, but it is sensitive to failure in making long-term advantageous choices. A comparison was made of 20 obese subjects (OS) and 20 normal-weight subjects (NWS) matched in age, education and IQ. The subjects' personalities and food behavior were assessed from psychological questionnaires, and then the Gambling Task was administered. The number of "good" choices made by the two groups during GT performance differed significantly, and the OS did not learn to maximize advantageous choices like the NWS did. OS behavior could be consistent with a prefrontal cortex defect that implies difficulties in inhibition of excessive food intake.

Mathematical skills in Prader-Willi Syndrome.

OBJECTIVES: This paper investigates mathematical skills in Prader-Willi Syndrome (PWS), a pathological condition because of congenital alterations of chromosome pair 15. The following questions were addressed: (1) Are mathematical skills in PWS relatively more impaired with respect to other cognitive functions (as has been repeatedly but anecdotally reported)?; and (2) What is the nature of the mathematical impairment? METHODS: The first study employed the Wechsler Adult Intelligence Scale (WAIS) and an extensive battery of cognitive tasks for which norms are known. Both batteries include a mathematical section. The second study used a theoretically motivated series of mathematical tasks specifically designed to individually assess the different cognitive components underlying mathematical skills. RESULTS: Mathematical skills were found to be the most impaired cognitive abilities together with short-term memory capacity. No specific mathematical domain was seen to be unaffected in PWS participants. The clearest deficits observed concern 'syntactic' processes in number transcoding, multiplication, number facts retrieval and calculation procedures. CONCLUSION: Failure of mathematical skills is the most distinctive feature in the cognitive profile of PWS. However, to determine whether this is indeed a specific pattern of performance related to PWS, results must be compared with those obtained with patients manifesting other genetic disorders.

Noun verb dissociation in Parkinson's disease.

A noun/verb dissociation with a relative verb deficit was found in patients affected by Parkinson's disease, even in relatively early stages, when mental deterioration is not severe. This finding is compatible with earlier observations, according to which verbs are dealt with in more anterior regions with respect to nouns. It also supports the speculation that the co-ordination and the manipulation of information associated with a verb world rely on the frontostriatal system.

Common daily activities in the virtual environment: a preliminary study in parkinsonian patients.

Patients with Parkinson's disease (PD) create behavioral motor strategies by using external cues to facilitate their movements. Virtual reality (VR) could work as an external stimulus in order to explore the motor plans by means of creation of mental images. We tested 2 women with PD aged 68 and 69 years, and 10 normal control subjects. Patients underwent a neuropsychological assessment to evaluate cognitive abilities involved in the tasks required by the VR session. VR environment reproduces common daily activities situations at home, such as eating or using the bathroom. VR describes the alterations of the motor plans in PD by a point of view different from the clinical one, by testing "pure" mental sequences of the execution of a movement, without the interference of motor disability.

Virtual environments in the diagnosis, prevention, and intervention of age-related diseases: a review of VR scenarios proposed in the EC VETERAN Project.

A group of worldwide virtual reality and health-care researchers have decided to combine their efforts in a multidisciplinary project titled VETERAN-virtual environments in the diagnosis, prevention and intervention of age-related diseases. The main goal of the VETERAN project is the tuning and testing of different virtual environments, designed to address the cognitive/functional impairments that may occur due to the aging process and age-related disorders. In particular the developed modules will address the problems commonly found in the following pathologies that have a strong impact on the elderly health care policy: Alzheimer's disease and other senile dementias; stroke and unilateral spatial neglect; mobility-related accidents within specific environments (e.g., falls, shocks). The project will focus on research into clinical aspects of age-related diseases and disorders of high morbidity and specifically target goals of prevention, treatment, or delay in onset. Another goal of the VETERAN project is to define and develop new protocols and tools to be used for general rehabilitation purposes. These tools will aim to provide systematic restorative training within the context of functionally relevant, ecologically valid simulated environments. This approach is hoped to optimise the degree of transfer of training and/or generalisation of learning to the person's real world environment.