Sample Essay on Prader-Willi Syndrome
The Prader-Willi Syndrome [P.W.S] is a rare genetic disorder in which seven genes on chromosomes 15 [q11-13] are deleted on the paternal chromosome. This disorder was first described by Andrea Prader in 1956, Heinrich Willi, Alexis Labhart, Guido Fanconi of Switzerland and Andrew Ziegler. Being a rare condition, the incidence of PWS is between 1 in 25,000 and 1 in 10,000 live births.
The maternal origin of the genetic material that is affected in the syndrome is vital because the particular region of chromosome 15 involved is a subject to imprinting. This means that the number genes in this region only one copy of the gene is expressed while the other is not articulated through imprinting. The gene affected in Prader-Willi Syndrome is the maternal copy that is usually imprinted whereas the mutated paternal copy is not efficient. This means that individual not suffering from this condition have one working gene and one silenced set of the genes.
There are numerous signs and symptoms that can be detected from an individual suffering from the Prader-Willi Syndrome. This includes;
- Poor muscle tone
- Food craving and weight gain
- Underdeveloped sex organs
- Poor growth and physical development
- Prone to diabetes mellitus
- Nearsightedness [Myopia]
- Delayed motor development
- Speech problems
- Behavioral problems
- Sleeping disorders
- Scoliosis [abnormal curvature of the spine]
- High pain tolerance and
- Light skin and hair as compared to other members in a family.
The abovementioned symptoms of Prader-Willi Syndrome can occur during birth, in childhood and as an adult. PWS affects boys and girls of any ethnic background. There are estimated more than 400, 000 people who live with the Prader-Willi Syndrome around the world. This disorder is traditionally characterized with obesity, hypotonia, short stature, short hands and feet and behavioral issues among other signs. Despite observing these symptoms in a child, early diagnosis and treatment is essential.
Prader-Willi Syndrome is a spectrum disorder and symptoms can range from mild to severe and so early prognosis is effective. PWS was traditionally diagnosed by clinical presentation, these days; the syndrome is diagnosed through genetic testing. However, the testing is necessary for newborns that are marked with hypotonia. Through early PWS diagnosis, it becomes easy for early intervention and timely prescription of the growth hormone.
The backbone diagnosis of the Prader-Willi Syndrome is genetic testing. DNA-based methylation testing is the most imperative as it helps detect absence of the paternally contributed PWS region on the chromosome 15q11-13. It is an effective testing that detects over 97% cases. The Methylation testing is essential as it is able to confirm PWS on any individual even those young enough to not show any features to make diagnosis on clinical grounds. Many times, PWS is misdiagnosed as many medical communities are unfamiliar with the disorder.
Prader-Willi Syndrome has no cure, but several treatments are utilized to lessen the symptoms of the condition. During infancy, an infant undergoes therapies to improve muscle tone. Speech and occupational therapies are also indicated. In schooling years, children benefit from the highly structured learning environment. Prescription of daily recombinant growth hormone [GH] injections aid children suffering from this condition.
For those with severe obesity, obstructive sleep apnea is a common sequela, and a positive airway pressure can also help. Gastric bypass is an effective surgical procedure that can aid in treating obesity a symptom associated with PWS. Parents need to help children restrict their diets and control weight so as to enjoy quality life. In addition, in case of any of the PWS signs, it is advisable to seek specialist care always.
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