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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.

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? 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. 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. 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.

Aim of this study is analyze the effects of dental occlusion on postural stability in patients with previous whiplash and malocclusion. Materials and methods: 30 adult patients with previous whiplash and malocclusion (crossbite, mandibular shift, bad alignment, edentulous spaces) were selected. The patients were suffering from masticatory muscles pain caused by clenching during sleep. Exclusion criteria: use of psych drugs. To simulate the conditions of sleep (with a reduction of proprio- and esteroceptive inputs for postural management performed by CNS), we used postural Romberg analysis (feet together, closed eyes) on stabilometric platform changing occlusal parameters only, under the following conditions: 1) in occlusal rest position, 2) in centric occlusion, 3) in clenching, 4) with occlusal disengage with cotton rolls and 5) in clenching on cotton rolls. Time of each test: 15 seconds. It was performed a statistical analysis with T-test comparing between them the mean of all tests. Results: stabilometry data (postural ball and ellipse) show better postural with occlusal disengage (in centric and in clenching), and a worsening in all tests with centric occlusion (with statistically significant difference - p<0.05). Conclusions: postural instability caused by whiplash increases muscles tone and dental clenching as compensatory effects, with onset of facial pain and a worsening of TMJ health in subjects with malocclusion. An occlusal disengage (like an occlusal splint to reduce clenching) induces better postural performances. Sostomatognathic system becomes a source of postural dysfunction and a cause of postural worsening. [ABSTRACT FROM AUTHOR]