Abstract
BackgroundPrader-Willi Syndrome (PWS) is a neurodevelopmental genomic imprinting disorder with lack of expression of genes inherited from the paternal chromosome 15q11-q13 region usually from paternal 15q11-q13 deletions (about 60%) or maternal uniparental disomy 15 or both 15s from the mother (about 35%). An imprinting center controls the expression of imprinted genes in the chromosome 15q11-q13 region. Key findings include infantile hypotonia, a poor suck, failure to thrive and hypogonadism/hypogenitalism. Short stature and small hands/feet due to growth and other hormone deficiencies, hyperphagia and marked obesity occur in early childhood, if uncontrolled. Cognitive and behavioral problems (tantrums, compulsions, compulsive skin picking) are common.ObjectiveHyperphagia and obesity with related complications are major causes of morbidity and mortality in PWS. This report will describe an accurate diagnosis with determination of specific genetic subtypes, appropriate medical management and best practice treatment approaches.Methods and ResultsAn extensive literature review was undertaken related to genetics, clinical findings and laboratory testing, clinical and behavioral assessments and summary of updated health-related information addressing the importance of early PWS diagnosis and treatment. A searchable, bulleted and formatted list of topics is provided utilizing a Table of Contents approach for the clinical practitioner.ConclusionPhysicians and other health care providers can use this review with clinical, genetic and treatment summaries divided into sections pertinent in the context of clinical practice. Frequently asked questions by clinicians, families and other interested participants or providers will be addressed.
Highlights
Prader-Willi Syndrome (PWS) is a rare complex multisystem genetic disorder recognized as the most commonly known genetic cause of life-threatening obesity in humans [1]
Physicians and other health care providers can use this review with clinical, genetic and treatment summaries divided into sections pertinent in the context of clinical practice
PWS arises from errors of genomic imprinting with lack of expression of paternally inherited imprinted genes in the chromosome 15q11-q13 region generally caused by a paternal deletion or maternal disomy 15 in which both chromosome 15s are inherited from the mother
Summary
Prader-Willi Syndrome (PWS) is a rare complex multisystem genetic disorder recognized as the most commonly known genetic cause of life-threatening obesity in humans [1]. Each section represents the clinical presentation and list of features, genetic causation and counseling, diagnostic/genetic testing with therapeutic and management approaches including diet intervention, medication and impact of pharmacogenetics and hormone use with treatment options for behavioral and psychiatric problems most commonly seen in this disorder. These suggested recommendations are intended for health care providers and those assisting in the care and treatment of infants, children and adults with PWS. Additional children with PWS may result with the risk of recurrence at 50% [3, 21, 28]
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