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Titlebook: Management of Prader-Willi Syndrome; Merlin G. Butler,Phillip D. K. Lee,Barbara Y. Whit Book 2022Latest edition The Editor(s) (if applicab

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Molecular Genetic Findings in Prader-Willi Syndromeetion of the 15q11-q13 region involving proximal chromosome 15q11-q13 breakpoints BP1 or BP2 and distal breakpoint BP3. Here, we review the structure, function and imprinting status of both protein coding and non-coding genes in the extended chromosome 15 region from BP1-BP5. The region is character
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Monogenic and Syndromic Causes of Obesityd expenditure. The cause of obesity is heterogeneous with complex biological processes playing a role including control of peptides involved in regulating appetite, cellular energy and metabolism, and fat production influenced by environmental interactions. Advances in genetic technology have led to
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Medical ConsiderationsWilli syndrome (PWS). Clinical diagnostic criteria and acceptance of genetic diagnostic testing in the 1990s helped to focus clinical and research attention on a condition which had been largely disregarded as a defined clinical entity. The identification of a defect in the growth hormone (GH) syste
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Gastrointestinal System, Obesity, and Body Compositionority of the publications regarding PWS mention, discuss, and/or explore the topic of obesity. Despite this attention, the diagnosis, pathogenesis, optimal treatment, monitoring, and outcome of this condition in PWS remain controversial and incompletely defined. The paradox of the underweight infant
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Motor and Developmental Interventions for Prader-Willi Syndromed fine motor development, and present lifelong skeletal, postural, gait, and movement health and activity challenges. Age-appropriate physical therapy intervention can remediate and often prevent obstacles to function and independence. This chapter provides an in-depth examination of the neuromuscul
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Educational Considerations for Children with Prader-Willi Syndromeoptimal education experience requires that parents, educators, related service providers and administrators be familiar with the unique and complex issues affecting the student with PWS so that they may better meet the educational needs of that student. This chapter provides an overview of the many
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