Content

• Steps
• Part 1 of 3: Key Features
• Part 2 of 3: Additional signs
• Part 3 of 3: Medical Assistance

Prader-Willi syndrome (PWS) is an inherited disorder that is usually diagnosed in early childhood.The disease affects the development of many parts of the body, leads to behavioral problems and often leads to obesity. When diagnosing, clinical symptoms and genetic tests are taken into account. Learn to recognize PWV in children so you can get your child the right treatment and care when needed.

Steps

Part 1 of 3: Key Features

1. 1 Weak muscles. One of the main signs of Prader-Willi syndrome is weak muscles and decreased muscle tone. Weak muscles are usually easiest to spot in the torso area. Also look for flabby limbs or body. Among other things, the baby may cry weakly or quietly.
   • This is usually noticed during childbirth or immediately after childbirth. After a few months, flaccid or weak muscles may tone or strengthen.
2. 2 Feeding problems. Difficulty feeding is another common problem with PWS. The child may have a poorly developed sucking reflex, so he needs help. Due to difficulties in feeding, the baby begins to grow slowly or does not grow at all.
   • Feeding tubes or special nipples can be used to help the baby eat well.
   • It is this problem that usually prevents an infant from growing and developing normally.
   • After a few months, the sucking reflex may return to normal.
3. 3 Sharp weight gain. Over time, the child begins to gain weight quickly. This is usually caused by problems with the pituitary gland and hormonal disruptions. A child may overeat, constantly feel hungry or have an obsessive need for food, which contributes to weight gain.
   • This usually occurs between the ages of one and six.
   • Subsequently, the child may be diagnosed with obesity.
4. 4 Abnormal facial features. Abnormal facial features are another sign of PWS. These include almond-shaped eyes, a thin upper lip, narrow temples, and drooping corners of the mouth. The child's nose may be upturned.
5. 5 Delayed development of the genitals. Another sign of PWV, which refers to the development of the body, is the late development of the genitals. In children with PWS, hypogonadism is common, implying decreased activity of the gonads. All of these problems cause delayed development of the genitals.
   • Girls may have overly small labia and clitoris, while boys may have a small scrotum or penis.
   • Late or incomplete puberty is also possible.
   • All of these problems can lead to infertility.
6. 6 Development lag. Children with PWS may show signs of developmental delays. These usually include mild to moderate intellectual disability or learning disabilities. These children will later begin to sit or walk and perform other general activities.
   • On an IQ test, a child usually scores between 50 and 70 points.
   • Also, the child may have problems with the development of speech.

Part 2 of 3: Additional signs

1. 1 Low mobility. Low mobility is an additional feature of PWV. You can notice this problem even during pregnancy. In this case, the embryo in the womb moves less than usual. After birth, the baby may become unwell, excessively weak, and sleepy, usually a symptom of a baby crying weakly.
2. 2 Sleep disturbances. In the case of PWS, a child may experience sleep disturbances in which babies remain drowsy during the day, do not sleep well at night, and wake up frequently.
   • Also, the child may have sleep apnea attacks.
3. 3 Behavior problems. Children with Prader-Willi syndrome have a variety of behavioral problems. They are often more stubborn or throw tantrums. Also, children with PWS often lie or steal different things, especially when it comes to food.
   • Among other things, symptoms associated with obsessive-compulsive disorder and even obsessive peeling of the skin may appear.
4. 4 Minor physical signs. There are several additional physical signs that serve as secondary criteria in the diagnosis of PWS.Children with unusually white, light, or dull hair, skin, or eyes are at high risk. Also pay attention to strabismus and myopia.
   • Among other things, physical abnormalities such as small or narrow hands or feet are possible. Also, the child may be too short for his age.
   • One of the signs may be sticky or thick saliva.
5. 5 Other signs. Also, children with Prader-Willi syndrome may have other, less common symptoms. These include an inability to regurgitate and a high pain threshold. Bone problems such as scoliosis (curvature of the spine) or osteoporosis (brittle bones) may occur.
   • Abnormal adrenal activity can lead to early puberty.

Part 3 of 3: Medical Assistance

1. 1 When to seek medical attention. When diagnosing Prader-Willi syndrome, doctors use basic and additional signs as criteria. Pay attention to these signs to know if your child should be seen by a doctor.
   • If a child under the age of two has five signs, then it is necessary to carry out a diagnosis. Three or four signs should be related to the main symptoms, and the rest should be additional.
   • Children over three years of age must have at least eight signs. Four or five of these should be related to the main symptoms.
2. 2 Show your child to a doctor. Try not to miss scheduled postpartum checkups so that doctors can diagnose Prader-Willi syndrome early. The doctor will monitor the development of the child and detect possible problems in a timely manner. During any visit to the doctor at an early age, he can diagnose PWS based on the signs found on examination.
   • During examinations, the doctor checks the height, weight, muscle tone and mobility, the condition of the genitals and head circumference. Also, the pediatrician constantly monitors the progress of the child's development.
   • Always inform your doctor about feeding problems, sleeping problems, or signs of lethargy.
   • If the child has become older, and you notice he has a tendency to overeat or excessive need for food, be sure to inform the doctor about it.
3. 3 Genetic analysis. If you suspect PWS, a genetic blood test is prescribed. This test can confirm the diagnosis by looking for abnormalities in chromosome 15. If you have a family member with this condition, a prenatal test can be done to check the baby for PWS.
   • Also, genetic analysis allows you to establish the likelihood of the birth of other children with this syndrome.