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Special Issue "Prader-Willi Syndrome"
Deadline for manuscript submissions: closed (30 November 2015).
Interests: neurocognition; sleep; EEG and event related potential methodologies; cortical activation associated with pain perception and touch
Prader-Willi syndrome (PWS), first described by Prader, Labhardt and Willi in 1956, is a congenital disorder in which various configurations of seven genes on chromosome 15 (q 11–13) are deleted or unexpressed (chromosome 15q partial deletion) on the paternal chromosome. The syndrome is commonly characterized by muscular hypotonia, short stature, obesity, small hands and feet, hypogonadism, excessive daytime sleepiness and neurocognitive deficits. In females, there is delayed or absent development of pubertal changes. The affected persons are notable for having an insatiable hunger and often there are associated behavioral problems related to food and overeating. Subsequently, there is a tendency in this group toward life-threatening obesity. It is a relatively common congenital disorder with an incidence between 1 in 10,000 to 1 in 25,000 live births.
Early diagnosis of PWS allows for early intervention, usually through daily recombinant growth hormone injections which supports linear growth and increased muscle mass. The tendency of this patient group toward severe obesity is also a contributory factor in their high incidence of obstructive sleep apnoea, and the use of continuous positive airway pressure is common. Surgical procedures are not usually warranted, though gastric banding has been used as a weight reduction strategy; however, this approach has been generally unsuccessful in PWS due to a combination of higher pain thresholds and continued overeating. More recent studies have posed the possibility that stem cell research may be beneficial towards understanding the genetic basis of the many expressions of PWS, and moreover, possible treatment approaches.
This Special Issue provides an Open Access opportunity to publish research work and review articles related to Prader-Willi syndrome, with the aim of distributing recent advances in our knowledge of this disorder.
Dr. Danny Camfferman
Manuscript Submission Information
Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All papers will be peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.
Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Diseases is an international peer-reviewed open access quarterly journal published by MDPI.
Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 1000 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.
- prader-Willi syndrome
- chromosome 15q11-q13
- excessive daytime sleepiness and hyperphagia