An unusual disorder that occurs at birth which leads to multiple physical, mental and behavioral conditions is called Prader-Willi (PRAH-dur VIL-e) syndrome.
If you or your child is suffering from Prader-Willi syndrome, you would need to work with a group of health care providers to manage the symptoms, prevent the risk of complications and cope with the condition by improving quality of life.
The primary presentation of Prader-Willi syndrome is a constant urge to eat as they never feel full, called hyperphagia, and typically have weight problems.
Hence, many complications of Prader-Willi syndrome arise because of obesity or inability to control weight.
Signs and Symptoms of Prader-Willi Syndrome may present in different ways depending on the phase the condition is currently at.
Signs during infancy, would typically appear that the baby has hypotonia which is having a poor muscle tone. Babies will appear like rag dolls when held as both lower and upper extremities will loosely hang instead of fixed.
Children will have an apparent facial feature which is an almond-shaped eyes, there will narrowing of the head at the temples, a turned-down mouth and a thin upper lip. Another symptom for infant is failure or inability to thrive.
Decreased muscle tone leads to poor sucking reflex hence infants experience difficulties gaining weight and may even slowly lose weight due to feeding problems. Inability to maintain eye coordination or known as strabismus, presented as the child’s eyes are not moving together as one eye may cross or wander to the side uncontrollably.
Generally lack of energy or poor responsiveness, manifested in a way that the baby seems unusually tired and sleepy most of the time, inability to properly respond when stimulated, experience challenges in waking the baby or have a weak cry.
Once the infant with Prader-Willi Syndrome grow and become an young child to adult, new signs and symptoms may start to appear and may remain through-out life hence appropriate treatment and management of the symptoms are necessary.
Early childhood to adulthood, classic signs and symptoms of the condition are constant need to eat or crave for food which lead to sudden weight gain.
A child may poor develop food-seeking behaviors due to the constant craving to consume food which happens frequent and in large portions, such as hoarding food or even inappropriately eating thing such as garbage and frozen raw food. They may also present with underdeveloped sex organs, the condition is called hypogonadism, since the testes in men and ovaries in women have difficulties producing sex hormones as it may produce little or none at all.
Underdeveloped sex organs lead to stunted development at puberty which cause for mostly all situations, infertility. Treatment is necessary to facilitate growth as without it, women may not start their menstrual period before the age of 30 while men may have little facial hair and their voice may not completely deepen.
As part of poor growth and development, children may have low muscle mass and high body fat, have small hands and feet and the person with Prader-Willi syndrome will not gain much height hence once they reach adulthood they will appear shorter than their family’s average height.
Mild to moderate deficiency in intellectual capability may also happen such as impaired thought process, reasoning and problem solving are the usual features of the condition. Growing up the person may also experience some form of learning disabilities.
Toddlers with Prader-Willi syndrome will have slowed motor development such as learning to sit up and walk may happen late compared to a normal child. Ability to communication or speak will also be delayed.
The child with the condition may soon develop behavioral problems which they can carry on until they are adult, this include being stubborn, angry, controlling, manipulative and may often throw temper tantrums most special when food is denied.
They may also manifest obsessive-compulsive or repetitive behaviors and may not tolerate sudden changes in their routine. As a result of the obsessive-compulsive behavior, development of skin picking may also happen.
Adults and children with the condition may have disrupted sleeping pattern and suffer from sleep apnea which is a condition in which the person stops breathing temporarily while sleeping.
Such sleeping disorders will lead to being unusual sleepy during daytime and cause further irritation and aggravated behavioral issues. Sleep disorders may worsen obesity. Development of scoliosis or abnormal curvature of the spine may soon follow. There will also be symptoms related to endocrine problems such as insufficient production of thyroid hormone (hypothyroidism), deficiency in growth hormone or central adrenal insufficiency, which will lead to inappropriate or inability to properly respond to stress and infections.
Additional signs and symptoms of Prader-Willi syndrome are as follows: vision problems such as nearsighted (myopia), light skin and hair compared to family members, increased tolerance to pain, causing safety problems as they can’t identify or there may be a delay in identifying that they have been injured, unable to regulate body temperature especially during changes in weather condition.
It is important to see a doctor or have your child be seen by a doctor once you have observed the early signs and symptoms of Prader-Willi syndrome, to start management of the symptoms which may hinder progression of the condition.
Prader-Willi syndrome (PWS) is caused by a genetic defect on chromosome number 15, which result from a mistake in one or more genes. Genes contain the instructions for making a human being. They're made up of DNA and packaged onto strands called chromosomes.
A person has two copies of all their genes, which means chromosomes come in pairs, one copy is called paternal gene which is inherited from your father and the other copy is called maternal gene which is inherited from your mother. Cases of Prader-Willi syndrome are the result of missing genetic information from the copy of chromosome 15 inherited from the father, which means that the child inherited two copies of chromosome 15 from the mother and nothing from the father in relation to chromosome 15.
Prader-Willi syndrome unsettles a certain portion of the normal brain function specifically the hypothalamus. Signs and symptoms of PWS arise due to the disruption in the functions of the hypothalamus which is to regulate the need for food and drinks and the release of hormones that stimulate release of other substances which facilitate growth and sexual development.
An uncontrollable hunger, delayed growth, sexual underdevelopment and other characteristics of PWS are attributed to the malfunction in the hypothalamus resulting from a defect on chromosome 15.
4 Making a Diagnosis
A definitive diagnosis of Prader-Willi syndrome can almost always be made with a lab test.
Completing your child’s well-back check-ups with the doctor especially for newborn infants is very important since the doctor will be able to monitor if your child is within the right growth and development milestone.
During the follow-up visit, your doctor might be able to see delineation in the normal growth and development that your child presents which is the early sign of Prader-Willi syndrome.
Baby’s height, weight and head circumference are taken by the health care provider on each check-up and is recorded in a baby book. This will enable your health care provider to monitor changes and possibly observe if your baby is with the normal growth range or there is any delay that needs to be concerned about.
Test of your child’s muscle tone is also performed to see if there is any weakness on your child’s legs and arms. Part of the physical examination is to check the genitalia for possible signs of abnormality.
To better understand your baby’s condition and the possible symptoms being experienced, the doctor might ask you several questions such as:
How many bottles of milk does your baby consume in a day and how frequent do you need to feed your baby?
If you are breastfeeding, how often do you feed your baby and is he able to suck well?
What is your baby’s normal condition and mood upon waking up?
Does your baby show weakness, sleepiness or appear sick upon waking up?
On the other hand, possible signs and symptoms to be concerned about for your older child are weight gain, unhealthy eating habits or other negative changes in behaviors.
If you suspect any problems with your child’s growth then do not hesitate to schedule a doctor’s appointment especially since you are the one who is mostly able to observe changes in your child. Additional assessment that the doctor may need to evaluation your older child during an appointment, include:
How much food does your child consume?
What is the frequent to which your child ask for food?
Do you notice any unusual eating behavior such as sneak food, eat strange or steal?
Does your child vomit because of too much consumption of food?
Does your child often throw temper tantrums or extreme inability to follow orders?
Does your child show any other behaviors that can be a cause for concern?
Your doctor might order additional tests if he suspects Prader-Willi syndrome to help make a definitive diagnosis, consider asking the following questions for you to better understand the procedures:
How long can we wait before the result comes in?
What is the frequency for the needed medical follow-up?
What are the available treatment and self-care measures that is best for my child?
How do we find out if my child has the best treatment option?
What is the recommended diet or nutrition for my child?
What is the recommended calorie intake for my child?
Can you recommend any local support group and other sources of information related to this condition?
Are there therapies available for early childhood development?
Infants presenting the following symptoms will alarm the doctor to order further tests such as a blood test, this includes:
poor muscle tone and a weak cry
poor sucking and feeding problems
almond-shaped eyes and narrowing of the head at the temples
Additional growth and development concerns for older children are as follows:
underdeveloped sex organs, short height and small hands and feet
problems with cognition such as slowed learning or inability to understand simple instructions
thick and sticky saliva
Special genetic tests can identify abnormalities in your child's chromosomes that indicate Prader-Willi syndrome.
Early diagnosis and treatment can improve quality of life for a person with Prader-Willi syndrome.
The condition will bring out multiple medical conditions hence a team of health care professionals will be most beneficial in helping manage the condition.
Most children with Prader-Willi syndrome will need the following care and treatments: good dietary nutrition for infants as most infants with Prader-Willi syndrome have problems feeding due to poor muscle tone.
Your child's health care provider may recommend a high-calorie formula or special feeding methods to help your baby have adequate nutrition and eventually gain weight also the child's growth will be monitored.
Human growth hormone (HGH) treatment will be recommend as it stimulates growth and improves the body’s metabolism or conversion of food into energy.
Growth hormone treatment in children with Prader-Willi syndrome increases growth, and generally improves muscle tone and reduces body fat. Long-term effects of HGH treatment aren't known yet. An endocrinologist, which is a doctor who treats hormonal disorders, will be able to recommend if is necessary for your child to undergo HGH treatment.
Sex hormone treatment. Your endocrinologist may prescribe hormone replacement therapy for your child (testosterone for males or estrogen and progesterone for females) to improve levels of sex hormones which may become low due to the effects of the condition.
Hormone replacement therapy normally begins once the child reaches puberty and can help reduce risk of developing osteoporosis or the thinning of the bones. Healthy diet.
As your child gets older, the dietary goal is to keep the child’s weight under control and still ensure proper nutrition hence a dietitian may be employed to help come up with a dietary plan that is healthy and with reduced-calorie diet.
Full supervision on food access and intact may be required to ensure that the child will only be eating what is recommended and during the scheduled time.
Treatment of sleep disturbances. Treating sleep apnea and other sleep problems can ease the discomfort of daytime sleepiness and improve behavioral issues.
It is recommended that before a growth hormone treatment is started that the child undergoes first a sleep evaluation. Overall development. There are several available therapy that will prove beneficial for the overall well-being of the child, including physical therapy to develop movement skills and strength, speech therapy to develop verbal skills, and occupational therapy to learn everyday skills and build daily routines.
Developmental therapy to learn age-appropriate behaviors, social skills and interpersonal skills that have been disrupted with the condition can be improved. In the United States, early intervention is being promoted through the use of different types of therapy that have been made available for infants and toddlers in different state health department.
Mental health care. A mental health professional, such as a psychologist or a psychiatrist, will be able to provide treatment options for some disturbed behaviors of your child such as obsessive-compulsive behaviors or a mood disorder.
Although, there are instances wherein medication treatment is needed for behavioral problems. Depending on the specific symptoms or complications manifested, would additional treatments be further provided.
Generally, people with Prader-Willi syndrome will require life-long specialized care and supervision hence there are a lot of adults with the disorder who live in a residential care facilities that allows them to eat healthy diets, have a safe environment, be able to work and enjoy leisure activities.
These are the available option that can facilitate the needed supported care as a child transition to adulthood:
Look organizations which offer specialize care for the condition such as the Prader-Willi Syndrome Association
Research on the offered guardianship services and the needed future care and supervision for your child
Talk to people who are knowledgeable and have experience with caring for a child with the same condition to get advice on how to best care for your child's health especially in the years to come.
Also, continuous work closely with the members of the health care team to be able to maintain continuous support and care for your child until adulthood.
Prevention of Prader-Willi syndrome may prove challenging since it is caused by a genetic condition that occurs randomly and studies are unable to provide specific patterns.
There are cases though, that a genetic mutation inherited from the father may cause the condition hence if you have any plans of bearing another child it would be best to consider having a genetic counseling first.
Doing so might shed some light and possible give you an idea on the risk of having another child with Prader-Willi syndrome.
7 Alternative and Homeopathic Remedies
There are no known homeopathic or alternative remedies for Prader-Willi syndrome.
8 Lifestyle and Coping
Lifestyle modifications are necessary for your child in order to cope with Prader-Willi syndrome.
Here are some tips on how to best take care of your child with Prader-Willi syndrome as they are suffering from different medical conditions.
Be careful when holding your baby, keep in mind that a child with Prader-Willi syndrome has poor muscle tone which may cause for the baby to slip in your hand if carried abruptly.
Employ a strict meal plan and follow it. Substitute previous food choices to low-calorie diet which is important in controlling the child’s weight. Develop an eating routine by structuring meal times and the types of food that will regularly be consumed. Also, store food out of your child’s reach to prevent binge eating.
Ask your doctor if there is any supplements that your child can take as he is on a strict low-calorie diet to ensure proper nutrition. Promote increase physical activity through regular exercise and other movements that can be done at home such as cleaning or putting away toys, also engage in plays that require movement such as biking.
Work with your doctor on scheduling regular check-up to monitor signs and symptoms and early detection of any complication. Dealing with the challenges of caring for a child with special needs may lead to a major stress for the entire family hence it would be best to get help and advice from family support groups and look for reliable educational resources that you can read and get useful information from.
9 Risks and Complications
Majority of the complications associated with Prader-Willi syndrome is due to obesity brought about by the feeling of constant hunger.
Obesity significantly increases the risk of diabetes primary due to poor dietary intake. Also, people who are obese are predisposed to high blood pressure, hardened arteries, high cholesterol, and other factors that can lead to heart disease and stroke.
Sleep apnea, a sleep disorder in which a person momentarily stops breathing while sleeping. The disorder can cause daytime fatigue, high blood pressure and, sometimes even sudden death.
People with Prader-Willi syndrome may have sleep apnea or other sleep disorders even if they aren't obese, but obesity can exacerbate sleep problems. Additional complications due to obesity, including those with Prader-Willi syndrome, are at greater risk of liver disease and can have pain in their joints due to excessive wear and tear and the heavy weight that it has to bear.
Complications may also happen from hypogonadism such as sterility. Another complication is Osteoporosis which is a condition characterized by weak and brittle bones that can easily break.
People with Prader-Willi syndrome are at an higher risk of developing osteoporosis because they have low levels of sex hormones and may also have low levels of growth hormone, both hormones help maintain strong bones.
Other complications can arise from the complex nature of Prader-Willi syndrome: Effects of binge eating, it is the consumption of a large amount of food that is taken too quickly, can cause your child's stomach to become strangely distended (gastric dilatation).
Binge eating can possibly lead to choking since food is consumed too fast and the child may not properly chew. Significant behavior problems can impede with family functioning and successful education and social participation.
They can also reduce the quality of life for children, teenagers and adults with Prader-Willi syndrome due to reduce or lack of social interactions.
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