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Prader-Willi Syndrome: Genetic Analysis

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The purpose of this research is to analyze and understand the genetic mutation of what causes Prader-Willi Syndrome (PWS) as well as considering the symptoms and treatments. PWS is a genetic disorder affecting chromosome 15 within three mutations. It could result from a microdeletion or disruption of genes of the paternal chromosome 15, maternal uniparental disomy of chromosome 15, or a mutation that inactivates chromosome 15 on the paternal copy. Based on these mutations, the most common symptoms of this syndrome are behavioral problems, intellectual disability, and short stature. The majority of the treatments for this syndrome are programs and methods interventions.

Prader-Willi syndrome (PWS) is a complex genetic disorder that is …show more content…
The hypothalamus is an endocrine organ that plays a role in many bodily functions such as regulating hunger and satiety, body temperature, pain, emotions, and fertility (Foundation for Prader-Willi Research, 2014). Since there is a dysfunction in the hypothalamus, individuals with this syndrome lack satiety, which can result in them eating themselves to death. Other phenotypes include distinct facial features, hypogonadism, short stature and small hands and feet. The behavioral phenotype includes hyperphagia, mood swings, skin picking, and temper outbursts (Tunnicliffe, et al, 2014). According to the article “Temper Outbursts in Prader-Willi Syndrome: causes, behavioral and emotional sequence and responses by carers”, temper outbursts seems to be more common in PWS than other genetic syndromes. “Two small-scale observational studies report that temper outbursts in PWS include arguing, shouting, screaming, facial flushing, stamping, angry facial expression, ‘storming off’, destruction and aggression” (Tunnicliffe, et al, 2014). But even though hypothalamic dysfunction is believed to lead to these symptoms, it is unknown how genetic abnormality causes hypothalamic …show more content…
Human growth hormone (HGH) is an effective and safe treatment that helps body composition, cognition, activity level and motor development (Lo, et al, 2015). Managing weight is also very important to help ensure proper nutrition. In extreme cases, padlocking access to food must be done to save the lives of patients with PWS. Mental health professionals may also help address psychological problems such as compulsive behaviors, mood disorder, or skin picking (Couper, et al,

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