Prader Willi syndrome (PWS) is a rare genetic disease that is diagnosed in the early stages of a child's life; it affects the development of many parts of the body, causes behavioral problems and often leads to obesity. PWS is identified through analysis of clinical symptoms and genetic testing. Know if your child is suffering from it so that he can get the care he needs.
Steps
Part 1 of 3: Identifying Major Symptoms
Step 1. Look for muscle weakness
One of the most obvious symptoms of this syndrome is muscle weakness or hypotonia. Generally, it is easier to notice in the trunk area; the newborn has flabby limbs or a toneless body, may cry weakly or very lightly.
This symptom usually occurs at birth or soon after; sagging limbs and muscle weakness improve or disappear after a few months
Step 2. Monitor breastfeeding impediments
Another common problem among children with PWS is the difficulty in feeding. They may not be able to suckle properly and need assistance during feedings; precisely because of this problem, growth slows down or stops.
- You can use gastric tubes or special teats to help your baby breastfeed.
- This symptom usually prevents the baby from growing healthy.
- Sucking problems may improve over a few months.
Step 3. Observe rapid weight gain
Over time, patients experience rapid and excessive weight gain, usually due to alterations in the function of the pituitary and hormonal system. The child may overeat, be hungry all the time, or be obsessed with food, all of which lead to weight gain.
- This phenomenon usually occurs when it is between 1 and 6 years old.
- Eventually, the child could be considered obese.
Step 4. Look for facial abnormalities
Another symptom of Prader Willi syndrome is abnormal facial features, such as almond-shaped eyes, a thin upper lip, a narrowing of the skull at the temples, downward corners of the mouth, and a downward-pointing nose. 'tall.
Step 5. Take note of a delay in the development of the genitals
Children suffering from PWS have slower development of the sexual organs; they are often affected by hypogonadism (ovaries or underactive testicles), which is the cause of hypogenitalism.
- Girls may have extremely small vaginal labia and clitoris, while boys have a small penis or scrotum.
- Puberty can be late or incomplete.
- These are all factors that potentially lead to infertility.
Step 6. Pay attention to developmental delay
Young patients with Prader Willi syndrome may have mild or moderate intellectual disability or have learning difficulties. They may reach common physical development goals - such as walking or sitting - later than normal.
- The value of the intelligence quotient could be between 50 and 70.
- Difficulties with phonetic abilities may also arise.
Part 2 of 3: Recognizing Minor Symptoms
Step 1. Check for a reduction in fetal movement
It is one of the minor effects of the disease that occurs during pregnancy. The fetus may move or kick less than normal; after giving birth, she may have a lack of energy or severe lethargy associated with weak crying.
Step 2. Pay attention to sleep disturbances
If a child has PWS, they may have difficulty sleeping, for example they may be very sleepy during the day but not sleep continuously throughout the night, waking up often.
He may be suffering from sleep apnea
Step 3. Monitor behavioral problems
This is a wide range of ailments, the child could have a lot of tantrums or be particularly stubborn; may lie or steal, especially for food-related issues.
He may experience signs similar to obsessive-compulsive disorder and dermotillomania
Step 4. Look for minor physical symptoms
There are few physical cues that represent non-prevalent criteria for the diagnosis of PWS. Babies with extremely light or pale skin, eyes, or hair are at greater risk; they may also suffer from strabismus or farsightedness.
- They may have some physical abnormalities, such as small or tight hands and feet, and they may be too short for their age.
- Little patients have thick, sticky saliva.
Step 5. Pay attention to other signs
Less common ones include an inability to vomit and a high pain threshold; Bone problems are also not uncommon, such as scoliosis (spine too curved) or osteoporosis (fragile bones).
Some patients enter puberty early due to abnormal activity of the adrenal glands
Part 3 of 3: Seeking Medical Help
Step 1. Know when to see your doctor
Doctors use major and minor symptoms to determine whether or not the baby has PWS. Looking for the presence of these clues allows us to understand if it is appropriate to subject the child to tests or to a specialist visit.
- For children who are no more than two years old, the coexistence of 5 symptoms is necessary to justify the tests, of which 3-4 must be "major" and the others of a minor nature.
- Children over three years of age must meet at least eight criteria, of which 4-5 are older.
Step 2. Take the baby to the pediatrician
An effective method to diagnose the disease is to submit the baby to the protocol medical examinations scheduled after birth; the doctor monitors the growth curve and can identify anomalies. During each checkup of the child's early years, the pediatrician uses the symptoms found to diagnose the syndrome.
- During the visit, the doctor checks the child's growth, weight, muscle tone, movements, genitals and head circumference; it also performs a routine inspection of development in general.
- You should inform the pediatrician of any problems with feeding, sucking and sleeping or if you feel your baby is less active than he should.
- If the child is older, tell the doctor if he is obsessed with food or hyperphagia.
Step 3. Submit it to genetic testing
If the pediatrician is concerned that it is PWS, they do a blood test that can confirm the diagnosis. specifically, the examination looks for abnormalities on chromosome 15. If in your family there have already been other cases of this syndrome, you can also ask for a prenatal test.
