If your baby is born with very weak muscle tone (floppy) immediately do a genetic test to find out whether he has Prader Willi syndrome or something else.
Prader-Willi syndrome is a chromosomal disorder that occurs in a child while still in the womb. What are the causes and how can it be treated? Read this article for a complete explanation.
Table of Contents
Understanding Prader Willi Syndrome
Prader-Willi syndrome is a rare, complex genetic condition that affects many aspects of a person’s life and is usually apparent soon after birth. It results in physical, mental, and behavioral problems.
Some of the signs are weak muscle tone (hypotonia), experiencing digestive problems, poor and delayed growth and development as well as learning difficulties and other behavioral challenges.
Prader-Willi syndrome affects approximately 1 in 10,000 to 30,000 people worldwide.
Other names for this condition:
- Prader-Labhart-Willi syndrome
- PWS
- Willi-Prader syndrome
Causes of Prader-Willi Syndrome
Launching the page Medline Plus,Prader-Willi syndrome is described as the loss of gene function in a specific region of chromosome 15. In general, each person inherits one copy of chromosome 15 inherited from their father (genetics) – the activity of this parent-specific gene results from a process calledgenomic imprinting.
Well, in most cases of Prader-Willi syndrome (as many as 70 percent), the genetic copy of chromosome 15 inherited from the father is missing or deleted in every cell, causing the fetus to lose critical (active) genes from the father – the copy of chromosome 15 from the mother is inactive.
In the other 25 percent of cases, a person with Prader-Willi syndrome has two copies of chromosome 15 inherited from their mother (maternal copy) – this condition is calledmaternal uniparental disomy.
The above conditions then cause the loss of function of several genes that provide instructions for making molecules calledsmall nucleolarRNAs (snRNA) also help regulate other types of RNA molecules (which have roles in producing proteins and other cellular activities).
Other disorders also affect the development and function of the hypothalamus in infants (the hypothalamus is the part of the brain responsible for regulating hormone release). All of these can impact the baby and cause numerous problems, including disturbances in eating and sleeping patterns, mood, physical growth, sexual development, body temperature regulation, intellectual disability, behavioral problems , and even physical characteristics.
Who Can Get This Syndrome?
Most cases of Prader-Willi syndrome are not inherited, primarily caused by deletions in the paternal chromosome 15 or by maternal uniparental disomy. These genetic changes occur as random events during the formation of reproductive cells (eggs and sperm) or in early embryonic development.
Affected individuals typically have no family history of the disorder. Therefore, it is rare to believe that genetic changes are the cause or responsible for Prader-Willi syndrome being inherited.
Symptoms Shown
The signs and symptoms of Prader-Willi syndrome can vary from person to person. Symptoms can gradually change over time from childhood to adulthood.
Baby
Signs and symptoms that are often shown from birth, according to Mayo Clinic,includes:
- Poor muscle tone. The primary sign during infancy is poor muscle tone (hypotonia). This can be seen in the child’s elbows and knees, which are always weakly extended, and floppy(limp) when held.
- Different facial features. It is possible for a baby to be born with oval-shaped eyes.almond, a head that narrows at the temples or forehead, a mouth that curves downward or is triangular in shape, and a thin upper lip.
- Poor sucking reflex. As a result of the decrease in muscle tone, the baby’s sucking ability is also poor, as is their ability to eat, resulting in them failing to grow.
- Poor general response. The baby always appears very tired, responds poorly to stimuli, is difficult to wake, and appears weak when crying.
- Problems with genital development. In baby boys, the penis and scrotum are small, and the testicles don’t descend from the abdomen into the scrotum (cryptorchidism). In baby girls, the clitoris and labia are small.
Childhood to Adulthood
Typical symptoms of this syndrome in older children and adults include:
1. Always Feeling Hungry
The main characteristic of Prader-Willi syndrome is extreme and constant hunger, which usually begins around age 2. People with Prader-Willi syndrome never feel full (hyperphagia).
They eat in very large portions, some even experience behavioral disorders such as hoarding food, eating frozen food (even eating garbage).
In managing this complex disorder, children need the help of parents and a team of professionals to reduce the risk of developing complications and improve their quality of life.
2. Obesity and Diabetes 2
Excessive appetite often causes people with Prader-Willi syndrome to experience dangerous weight gain or obesity, and also develop type 2 diabetes (the most common form of diabetes).
3. Intellectual Disorders
Cognitive impairments range from mild to moderate, such as problems with thinking, reasoning, and problem-solving. Some even develop intellectual disabilities, which can lead to severe learning difficulties.
4. Behavioral Problems
People with Prader-Willi syndrome often experience behavioral problems, such as angry outbursts, physical aggression, manipulative behavior, stubbornness, and compulsive behaviors such as skin picking.
Their tantrums may be caused by being deprived of food (because they have just eaten) or by being unable to tolerate changes in their routine. They may also develop obsessive-compulsive or repetitive behaviors, or both.
5. Different Physical Growth
A lack of growth hormone production can result in limited height, significantly shorter than average, low muscle mass, and high body fat (due to a high appetite).
Their hands and feet are also small, and there is a lack of pigment (hypopigmentation) which causes their hair, eyes and skin to be very pale or light in color.
Other problems that may occur are curvature of the spine (scoliosis), hip problems, reduced saliva flow, nearsightedness and other vision problems, and high pain tolerance.
Children may also experience endocrine problems including insufficient thyroid hormone production (hypothyroidism) or central adrenal insufficiency that prevents the body from responding appropriately during stress or infection.
6. Delayed Puberty
Selain perkembangan organ seks yang kurang sempurna, anak juga mengalami kondisi yang disebut hipogonadisme, yaitu ketika organ seks (testis pada pria dan ovarium pada perempuan) menghasilkan sedikit bahkan tidak memiliki hormon seks.
Hal ini menyebabkan organ seksnya terbelakang, dan pubertas menjadi tidak lengkap atau tertunda, serta mengalami infertilitas (tidak bisa punya anak).
Tanpa pengobatan, penderita perempuan mungkin tidak akan mengalami menstruasi hingga di usia 30-an. Sedangkan pada pria, mereka tidak memiliki banyak rambut di wajah dan suaranya pun tidak akan pernah sepenuhnya dalam.
7. Gangguan Tidur
Anak-anak dan orang dewasa dengan sindrom Prader-Willi mungkin memiliki gangguan tidur, termasuk gangguan siklus tidur normal dan kondisi di mana pernapasan berhenti saat tidur (sleep apnea). Gangguan ini dapat menyebabkan kantuk berlebihan di siang hari dan memperburuk masalah perilakunya.
Gejala ini akan muncul di sepanjang hidup para penderitanya, karenanya mereka membutuhkan manajemen yang cermat dan dukungan dari orang-orang terdekat.
Diagnosis Sindrom Prader Willi
Prader-Willi syndrome can usually be diagnosed after the baby is born, one of the times when the doctor sees the baby’s body is very small.floppy(weak muscle tone). The accuracy of the diagnosis will be increasingly apparent based on the results of genetic testing.
How to Treat/Treat Prader Willi Syndrome
There is no cure for Prader-Willi syndrome. Treatment is available to manage the symptoms and difficulties a child faces related to them.
One of them is how to manage excessive appetite and behavioral challenges of the sufferer.
One of the challenges in caring for someone with Prader-Willi syndrome is maintaining a normal weight. It’s very difficult for them to maintain a healthy, balanced diet, avoiding sugary and high-calorie foods from the start.
It is possible that the sufferer will become very frustrated due to continuing to refrain from getting additional food, while hunger continues to plague them.
Possible Complications
Prader-Willi syndrome itself is not life-threatening. However, compulsive eating and weight gain can lead young adults with the syndrome to develop serious obesity-related conditions such as:
- Type 2 diabetes
- Heart failure
- High blood pressure
- High cholesterol
- Difficulty breathing, especially during sleep (sleep apnea)
- Other complications, such as increased risk of liver disease and gallbladder stones
If they follow a controlled diet, they will not become obese and will have a good quality of life just like normal people in general.
Meanwhile, complications related to hormone production are as follows, as explained by the National Health Service (NHS):
- Infertility. Although there have been some reports of women with Prader-Willi syndrome becoming pregnant, most people with the disorder are unable to have children.
- Osteoporosis. Osteoporosis causes bones to become weak and brittle, making them prone to fracture. People with Prader-Willi syndrome are at increased risk of developing osteoporosis because they have low levels of sex hormones and may also have low levels of growth hormone—both of which help keep bones strong.
Other complications include:
- Choking. Overeating can also cause choking.
- Reduced quality of life. Behavioral problems can interfere with family functioning, successful education, and social participation.
Prevention
If you have a child with Prader-Willi syndrome and want to have another child, consider seeking genetic counseling. A genetic counselor can help you determine the risks you face in having another child with Prader-Willi syndrome.
Prader-Willi syndrome
www.nhs.uk/conditions/prader-willi-syndrome/#
Prader-Willi syndrome
medlineplus.gov/genetics/condition/prader-willi-syndrome/
Prader-Willi syndrome
www.mayoclinic.org/diseases-conditions/prader-willi-syndrome/symptoms-causes/syc-20355997
Republished with permission from theAsianParent Indonesia