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Which are the symptoms of Prader-Willi Syndrome?

See the worst symptoms of affected by Prader-Willi Syndrome here

Prader-Willi Syndrome symptoms

Prader-Willi Syndrome (PWS) is a complex genetic disorder that affects many aspects of an individual's physical, cognitive, and behavioral development. It is caused by the absence or non-functioning of certain genes on chromosome 15, typically due to a deletion or other genetic abnormalities in that region. PWS is characterized by a wide range of symptoms that can vary in severity from person to person.



Infants with Prader-Willi Syndrome often exhibit poor muscle tone (hypotonia) and may have difficulty feeding, resulting in slow weight gain. They may also have distinctive facial features, such as almond-shaped eyes, a thin upper lip, and a downturned mouth. Additionally, they may experience delayed motor milestones, such as sitting, crawling, and walking.



As children with PWS grow older, they typically develop an insatiable appetite and an intense preoccupation with food, which can lead to excessive eating (hyperphagia) and obesity. This is often accompanied by a slower metabolism, decreased muscle mass, and increased fat storage. Individuals with PWS may have a small stature compared to their peers and may experience growth hormone deficiency, resulting in short stature.



Cognitive and behavioral symptoms are also common in individuals with Prader-Willi Syndrome. They may have mild to moderate intellectual disabilities, with an average IQ ranging from 50 to 70. Learning difficulties, particularly in math and visual-spatial skills, are often observed. Individuals with PWS may also exhibit behavioral problems, including stubbornness, temper tantrums, obsessive-compulsive tendencies, and difficulty with change or transitions. They may have a tendency to hoard food or other items and can display rigid and inflexible behaviors.



Hormonal imbalances are another hallmark of Prader-Willi Syndrome. Individuals with PWS often have low levels of sex hormones, such as testosterone in males and estrogen in females. This can lead to underdeveloped secondary sexual characteristics, delayed or absent puberty, and reduced fertility. Additionally, individuals with PWS may have an impaired response to stress and exhibit abnormal regulation of body temperature.



Sleep disturbances are prevalent in individuals with PWS. They may experience excessive daytime sleepiness, sleep apnea, and disrupted sleep patterns, including frequent awakenings during the night. These sleep disturbances can further contribute to behavioral problems and cognitive difficulties.



Other physical symptoms associated with Prader-Willi Syndrome include scoliosis (abnormal curvature of the spine), osteoporosis (reduced bone density), and poor temperature regulation. Individuals with PWS may also have a higher risk of developing type 2 diabetes, cardiovascular problems, and respiratory issues.



It is important to note that while these symptoms are commonly observed in individuals with Prader-Willi Syndrome, the severity and combination of symptoms can vary widely. Early diagnosis and intervention, including a multidisciplinary approach involving medical, nutritional, and behavioral management, can greatly improve the quality of life for individuals with PWS.


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Translated from spanish Improve translation
When they are small it is very difficult to feed them well, most receives tube feeding nasogastrica. Due to its hipotonia require physical therapy in order to start their early stages of development. After three years they begin to develop their stage of hyperphagia .

Posted Mar 10, 2017 by Johana Pamela 1100

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I am speaking on behalf of my son Bill.  He is delightful and fun, but sufferes from the hunger and anxiety that food and unscheduled events can bring. He has a wonderful sense of humor (about everything except food).  He likes to participate in r...
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Rhianna was diagnosed with Prader-Willi at a few weeks old. It would be wonderful to meet another child with the same syndrome who could become a friend to Rhianna and who lives within travelling distance of Guernsey.
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Born Oct 13, 2014. Diagnosed around 3 weeks old through genetic blood tests. Deletion type. NG tube used for feedings, pulse oxygen monitor, and supplemental oxygen at night. Growth hormone. Glasses. Ankle braces/ supports. Now over 1 year old, can ...
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Başak, was born in Milas on 18.03.2010. Symptoms of PWS from birth. In the same year, diagnosed with PWS. Başak, lived experiences of each child with PWS. Even apart from these, PWS in the literature for non-kidney failure is experiencing. PWS is c...

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