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Prader–Willi Syndrome (PWS, OMIM #176270) is a rare complex genetic disorder due to the loss of expression of paternally derived genes in the PWS critical region on chromosome 15q11-q13. It affects multiple neuroendocrine systems and may present failure to thrive in infancy, but then, hyperphagia and morbid obesity starting in early childhood became the hallmark of this condition. Short stature, hypogonadism, sleep abnormalities, intellectual disability, and behavioral disturbances highlight the main features of this syndrome. There have been a significant number of advances in our understanding of the genetic mechanisms underlying the disease, especially discoveries of MAGEL2, NDN, MKRN3, and SNORD116 genes in the pathophysiology of PWS. However, early diagnosis and difficulty in treating some of the disease’s most disabling features remain challenging. As our understanding of PWS continues to grow, so does the availability of new therapies and management strategies available to clinicians and families.

O texto foi publicado primeiramente na Science, vol. XXXI, n°787, jan. 1910, p. 121-127. A cópia utilizada na tradução foi baixada de https://www.jstor.org/stable/1634781 on Mon, 19 Oct 2020 22:11:06 UTC. Todo o uso está sujeito aos termos da JSTOR, disponíveis em https://about.jstor.org/terms. Tradução: Edgar Lyra.

This study explored whether sensitivity to visuomotor discrepancies, specifically the ability to detect and respond to loss of control over a moving object, is associated with other psychological traits and abilities. College-aged adults performed a computerized tracking task which involved keeping a cursor centered on a moving target using keyboard controls. On some trials, the cursor became unresponsive to participants’ keypresses. Participants were instructed to immediately press the space bar if they noticed a loss of control. Response times (RTs) were measured. Additionally, participants completed a battery of behavioral and questionnaire-based tests with hypothesized relationships to the phenomenology of control, including measures of constructs such as locus of control, impulsiveness, need for cognition (NFC), and non-clinical schizotypy. Bivariate correlations between RTs to loss of control and high order cognitive and personality traits were not significant. However, a step-wise regression showed that better performance on the pursuit rotor task predicted faster RTs to loss of control while controlling for age, signal detection, and NFC. Results are discussed in relation to multifactorial models of the sense of agency.

That the publication of the Origin of Species marked an epoch in the development of the natural sciences is well known to the layman. That the combination of the very words origin and species embodied an intellectual revolt and introduced a new intellectual temper is easily overlooked by the expert. The conceptions that had reigned in the philosophy of nature and knowledge for two thousand years, the conceptions that had become the familiar furniture of the mind, rested on the assumption of the superiority of the fixed and final; they rested upon treating change and origin as signs of defect and unreality. In laying hands upon the sacred ark of absolute permanency, in treating the forms that had been regarded as types of fixity and perfection as originating and passing away, the Origin of Species introduced a mode of thinking that in the end was bound to transform the logic of knowledge, and hence the treatment of morals, politics, and religion.