Prader-Willi Syndrome: A Rare Genetic Disorder
Prader-Willi syndrome is present at birth. During infancy, babies affected by Prader-Willi syndrome do not hold their limbs fixed when they are resting. Instead, their limbs are loosely extended. When they are held, they often feel floppy in the arms of the person holding them. If you can imagine holding a rag doll in your arms, you can imagine the way a baby affected by Prader-Willi syndrome would feel if you held them. This is due to poor muscle tone. In addition, poor muscle tone causes a poor sucking reflex and, as a result, these babies tend to gain weight slowly.
A baby who is affected by Prader-Willi syndrome will be born with some very distinctive facial features. Their eyes will be almond-shaped, and may not move together as the eyes should. This can cause their eyes to become crossed or to wander to the sides. The head narrows at the temples, and they may have a turned-down mouth and a thin upper lip. In addition, the baby may seem to be tired more than normal, have a poor response to stimulation, have difficulty waking and/or have a weak cry.
From the ages of 1 to 6, signs of Prader-Willi syndrome will develop that will stay present throughout the person's life.
The most distinguishing signs are the constant craving for food and rapid weight gain. The child always feels hungry and will eat large portions of food at frequent intervals. It is not unusual for children affected by Prader-Willi syndrome to develop unusual behaviors when it comes to food. They may hoard food, or even eat things that an unaffected person normally would not eat, such as foods that are still frozen or even food that is garbage.
Children affected by Prader-Willi syndrome generally have a condition known as hypogonadism. This condition occurs when the sex organs produce little or no sex hormones. This lack of sex hormones causes underdeveloped sex organs, incomplete development during puberty, and, in almost all cases, infertility.
Physically, children affected by Prader-Willi syndrome have a low muscle mass. Their hands and feet may be short, and by the time they have reached their full adult height, they may be shorter than other members of their family. Toddlers may reach developmental stages later than children who are not affected by Prader-Willi syndrome. It is common for the ability to walk to be delayed until the toddler is 2 years old. It is also common for children to develop an abnormal curvature of the spine, known as scoliosis.
Mentally, a child affected by Prader-Willi syndrome may have mild to moderate mental retardation. Even without the presence of mental retardation, there will be obvious learning disabilities present. Speech is commonly delayed until the child is 2 years old, and difficulty in articulating their words is commonly a problem that persists throughout life.
Behavioral problems such as stubbornness and temper tantrums are common among children with Prader-Willi syndrome. It is very common for these characteristics to show themselves when the child is denied food. Obsessive-compulsive disorder (OCD) and/or other mental health disorders may also develop.
Sleeping disorders may develop. Sleep apnea and disruptive sleep commonly occur, and can become worse with obesity.
A few other signs that may be present in those who are affected by Prader-Willi syndrome include nearsightedness, light skin coloration in comparison to other members of their family, skin picking, or the constant need to pick at their own skin, and a high tolerance for pain.
Although there are some obvious signs of Prader-Willi syndrome at birth, due to its rarity, even those signs may go unnoticed. It is important to get an accurate diagnosis of this disorder as soon as possible. If your infant fails to thrive, has poor muscle tone, feels like a little rag doll when you hold him/her, has difficulty in feeding, does not wake easily, fails to respond to your touch or seems unusually tired, you should take him/her to the doctor as soon as possible. If after the age of 1, you notice that your child is rapidly gaining weight, is constantly hungry, and/or displays abnormal eating behaviors, see your doctor as soon as possible.
Diagnosis for Prader-Willi syndrome can be done with a simple blood test. This disorder affects the 15th chromosome and is associated with a specific gene, known as the OCA2 gene. It is caused by the loss of active genes, specifically the OCA2 gene, in the 15th chromosome. Research into this genetic disorder is ongoing. It is known that the majority of the cases of Prader-Willi syndrome are not inherited. This means that one person affected by the disorder is highly unlikely to produce a child that would also be affected. As a matter of fact, with most cases of Prader-Willi syndrome, there is no family history of the disorder at all. It is unknown why this genetic deletion occurs.
Though there is no cure for Prader-Willi syndrome, the health problems that accompany this disorder can often be treated. The earlier the diagnosis, the more those affected can thrive in life.
Weight management is one of the most important tasks. Parents and caregivers of children with Prader-Willi syndrome need to take care in giving these children a balanced, low-calorie diet with vitamin and calcium supplements and plenty of exercise. Due to the child's constant craving for food, measures should be taken to limit the access the child has to food. This can be done by keeping only the foods the child is allowed to eat in the home, and doing things such as placing locks on cabinets and the refrigerator. Being sure to take the trash out and keeping it in a locked garbage can is also something that may be necessary. It is very important for weight management to keep children affected with Prader-Willi syndrome on a very strict diet.
Growth hormone treatment is commonly used to help increase muscle mass and muscle function. The usage of growth hormones may allow the child to enjoy a higher calorie intake, and can help them to grow taller. The downside to using growth hormones is that it may worsen any sleep apnea, therefore; children who are using these growth hormones need to have careful following and monitoring for any problems. Growth hormone therapy is often accompanied by physical and occupational therapies to help promote motor skill development.
Speech and language therapies are often used to help with speech delay problems.
Sex hormone replacement therapy can help these children have a more normal physical development during puberty.
Behaviors can often be managed with things such as a daily routine, structure, firm rules and limitations, and positive rewards for good behavior. Knowing what to expect next often helps a child with Prader-Willi syndrome control their own behavior. For example, if the child knows that he or she will eat at a specific time of the day, the child is less likely to become upset or feel deprived of food, and is less likely to throw a temper tantrum about eating. If behavioral management techniques are not enough to control behavioral problems, psychotropic medications may help, especially with things such as OCD and mood swings.
Most people affected with Prader-Willi syndrome will need continual care and monitoring for their entire life. Specialized care and supervision is necessary even in adulthood to help those affected live life to their full potential. It is not uncommon for adults affected by Prader-Willi syndrome to live in residential care facilities for ongoing care and supervision. With proper care and supervision, adults affected by this disorder can live a productive and happy life.
Resources for this article include:
http://www.pwsause.org
http://www.healthyplace.com/eating-disorder/main/prader-willi-syndrome
http://www.med.umich.edu/yourchild/topics/praders.htm
http://www.medicinenet.com/script/main/art.asp?articlekey=83976&pf=3&page=1
http://www,mayoclininc.com/health/prader-willi-syndrome
Published by LMG
Wife, mother, aspiring business woman. Family is very important to me. I am fortunate enough to have a very loving and supportive family. Whether near or far, we are always there for each other. View profile
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