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Prader-Willi Syndrome (Hardcover)
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Prader-Willi Syndrome (Hardcover)
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Prader-Willi syndrome (PWS) is a rare, genetic, multisystemic
disorder, characterised by short stature, muscular hypotonia,
intellectual disability, behavioural and psychological problems and
frequently hypogonadism and impaired growth hormone secretion. PWS
arises due to loss of function of paternally-expressed, imprinted
genes from chromosome region 15q11-q13. In new-borns and infants,
the syndrome presents symptoms of muscular hypotonia and
nutritional difficulties, which from the age of approximately two
years is replaced by hyperphagia often leading to severe obesity.
With increasing age the behavioural and psychological problems
increase while the muscular hypotonia improves. During the last
decades the knowledge of different aspects of PWS has increased and
accordingly the treatment possibilities. However, no specific
treatment exists and thus problems continue lifelong. Taking care
of PWS patients is therefore a demanding task and necessitates a
solid knowledge and understanding of the disorder as well as a
multidisciplinary approach. This book will provide professionals
taking care of patients with PWS with updated and comprehensive
information and advise. The content is built up logically and it
will be easy to navigate between the chapters, which cover all
clinically relevant issues, genetics, signs and symptoms in
children and adults, treatment, words from patients and parents,
supporting organisations, and from a parent to a PWS patient.
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