How to Diagnose Prader Willi Syndrome
Look for weak muscles., Check for feeding problems., Monitor for rapid weight gain., Check for facial abnormalities., Look for delayed development of genitalia., Monitor for developmental delays., Check for decreased movement., Watch for sleep...
Step-by-Step Guide
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Step 1: Look for weak muscles.
One major symptom of Prader-Willi Syndrome is weak muscles and lack of muscle tone.
The weak muscles are usually most noticeable in the torso area.
The child may also appear to have floppy limbs or a floppy body.
The baby may also have a weak or soft cry.This is usually apparent at birth or right after birth.
The floppiness or weakened muscles may get better or go away after a few months. -
Step 2: Check for feeding problems.
Another common problem for children with PWS is feeding difficulties.
The child may not be able to suck properly, so they will need assistance to feed.
Because of the difficulties feeding, the child has slow growth development or a failure to grow.You may have to employ the use of feeding tubes or purchase special nipples to help the child suck properly.
This generally causes a difficulty for the infant to thrive.
These sucking problems may improve after a few months. , As the child ages, they may experience rapid and excessive weight gain.
This is generally due to problems with the pituitary gland and hormonal issues.
The child may overeat, be hungry all the time, or have a food obsession, which adds to the weight gain.This generally occurs between ages one and six.
The child may end up classified as obese. , Another symptom of PWS is abnormal facial features.
This includes almond shaped eyes, thin upper lips, narrowing at the temples, and a down turning of the mouth.
The child may also have an upturned nose., Another developmental symptom of PWS is delayed development of the sexual organs.
Often children with PWS have hypogonadism, which means they have underactive testicles or ovaries.
This causes a reduced development of their genitalia.In females, they may have abnormally small vaginal lips and clitoris.
In males, they may have a small scrotum or penis.
They may have delayed or incomplete puberty.
This also can lead to infertility. , Children with PWS may display the signs of developmental delays.
This may present as a minor or moderate intellectual disability, or the child may have learning disabilities.
They may not do common physical developmental tasks until much later, such as sitting or walking.The child may test at an IQ of 50 to
70.
Children may have difficulties with speech development. , Reduced movement is a minor symptom of PWS.
This may occur during pregnancy.
The fetus may not have moved or kicked in the womb as much as normal.
After the baby is born, he or she may display a lack of energy or extreme lethargy, which may be associated with a weak cry., If a child has PWS, they may have problems sleeping.
They may be extremely sleepy during the day.
They also may not sleep through the entire night, but experience disruptions while sleeping.The child may have sleep apnea. , Children with Prader-Willi Syndrome may exhibit an array of behavior problems.
They may throw excessive temper tantrums or be more stubborn than other kids.
They may engage in lying or stealing, which is often related to food.The children may also show symptoms associated with obsessive-compulsive disorder, and even engage in actions like skin picking., There are a few physical symptoms that are minor criteria which help doctors diagnose PWS.
Children with unusually fair, light, or pale hair, skin, or eyes are at a greater risk.
Children may have crossed eyes or near-sightedness.The child may also show physical abnormalities, such as small or narrowed hands and feet.
They also may be unusually short for their age.Children may have unusually thick or sticky saliva. , Other less common symptoms may present in children with Prader-Willi Syndrome.
This includes the inability to vomit and a high threshold for pain.
They may have problems with their bones, such as scoliosis (a curvature of the spine) or osteoporosis (brittle bones).They may also have an early puberty because of abnormal activity in the adrenal glands. , Doctors use the major and minor criteria to determine if Prader-Willi Syndrome is a possible condition for your child.
Looking for these symptoms can help you determine if your child should be tested or examined by a doctor.For children two and under, a total of five points is needed to be tested.
Three to four points must be from the major criteria symptoms, with the others coming from the minor symptoms.
Children three and over must score at least eight points.
Four to five points need to be from the major symptoms., One good way to get your child diagnosed for Prader-Willi Syndrome early is to take them to their scheduled check ups after they are born.
The doctor can track their development and start to notice any problems.During any of the visits during your child’s early years, the doctor may use the symptoms noticed during the exam to diagnose PWS.In these appointments, the doctor checks the child’s growth, weight, muscle tone and movement, genitals, and head circumference.
The doctor also routinely monitors the child's development.
You should tell the doctor if your child has problems eating or sucking, if there are problems sleeping, or if they seem like they have less energy than they should.
If your child is older, tell your doctor about any food obsessions or habits of overeating you notice in your child. , If the doctor suspects PWS, they will perform a genetic blood test.
This blood test will confirm that your child has PWS.
The test will look for abnormalities on chromosome
15.
If there is a history of PWS in your family, you can also get prenatal testing to check your baby for PWS.The genetic test can also help you figure out if you may have other children with the same condition. -
Step 3: Monitor for rapid weight gain.
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Step 4: Check for facial abnormalities.
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Step 5: Look for delayed development of genitalia.
-
Step 6: Monitor for developmental delays.
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Step 7: Check for decreased movement.
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Step 8: Watch for sleep problems.
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Step 9: Monitor behavior problems.
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Step 10: Look for minor physical symptoms.
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Step 11: Check for other symptoms.
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Step 12: Know when to seek medical help.
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Step 13: Take your child to the doctor.
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Step 14: Get genetic testing.
Detailed Guide
One major symptom of Prader-Willi Syndrome is weak muscles and lack of muscle tone.
The weak muscles are usually most noticeable in the torso area.
The child may also appear to have floppy limbs or a floppy body.
The baby may also have a weak or soft cry.This is usually apparent at birth or right after birth.
The floppiness or weakened muscles may get better or go away after a few months.
Another common problem for children with PWS is feeding difficulties.
The child may not be able to suck properly, so they will need assistance to feed.
Because of the difficulties feeding, the child has slow growth development or a failure to grow.You may have to employ the use of feeding tubes or purchase special nipples to help the child suck properly.
This generally causes a difficulty for the infant to thrive.
These sucking problems may improve after a few months. , As the child ages, they may experience rapid and excessive weight gain.
This is generally due to problems with the pituitary gland and hormonal issues.
The child may overeat, be hungry all the time, or have a food obsession, which adds to the weight gain.This generally occurs between ages one and six.
The child may end up classified as obese. , Another symptom of PWS is abnormal facial features.
This includes almond shaped eyes, thin upper lips, narrowing at the temples, and a down turning of the mouth.
The child may also have an upturned nose., Another developmental symptom of PWS is delayed development of the sexual organs.
Often children with PWS have hypogonadism, which means they have underactive testicles or ovaries.
This causes a reduced development of their genitalia.In females, they may have abnormally small vaginal lips and clitoris.
In males, they may have a small scrotum or penis.
They may have delayed or incomplete puberty.
This also can lead to infertility. , Children with PWS may display the signs of developmental delays.
This may present as a minor or moderate intellectual disability, or the child may have learning disabilities.
They may not do common physical developmental tasks until much later, such as sitting or walking.The child may test at an IQ of 50 to
70.
Children may have difficulties with speech development. , Reduced movement is a minor symptom of PWS.
This may occur during pregnancy.
The fetus may not have moved or kicked in the womb as much as normal.
After the baby is born, he or she may display a lack of energy or extreme lethargy, which may be associated with a weak cry., If a child has PWS, they may have problems sleeping.
They may be extremely sleepy during the day.
They also may not sleep through the entire night, but experience disruptions while sleeping.The child may have sleep apnea. , Children with Prader-Willi Syndrome may exhibit an array of behavior problems.
They may throw excessive temper tantrums or be more stubborn than other kids.
They may engage in lying or stealing, which is often related to food.The children may also show symptoms associated with obsessive-compulsive disorder, and even engage in actions like skin picking., There are a few physical symptoms that are minor criteria which help doctors diagnose PWS.
Children with unusually fair, light, or pale hair, skin, or eyes are at a greater risk.
Children may have crossed eyes or near-sightedness.The child may also show physical abnormalities, such as small or narrowed hands and feet.
They also may be unusually short for their age.Children may have unusually thick or sticky saliva. , Other less common symptoms may present in children with Prader-Willi Syndrome.
This includes the inability to vomit and a high threshold for pain.
They may have problems with their bones, such as scoliosis (a curvature of the spine) or osteoporosis (brittle bones).They may also have an early puberty because of abnormal activity in the adrenal glands. , Doctors use the major and minor criteria to determine if Prader-Willi Syndrome is a possible condition for your child.
Looking for these symptoms can help you determine if your child should be tested or examined by a doctor.For children two and under, a total of five points is needed to be tested.
Three to four points must be from the major criteria symptoms, with the others coming from the minor symptoms.
Children three and over must score at least eight points.
Four to five points need to be from the major symptoms., One good way to get your child diagnosed for Prader-Willi Syndrome early is to take them to their scheduled check ups after they are born.
The doctor can track their development and start to notice any problems.During any of the visits during your child’s early years, the doctor may use the symptoms noticed during the exam to diagnose PWS.In these appointments, the doctor checks the child’s growth, weight, muscle tone and movement, genitals, and head circumference.
The doctor also routinely monitors the child's development.
You should tell the doctor if your child has problems eating or sucking, if there are problems sleeping, or if they seem like they have less energy than they should.
If your child is older, tell your doctor about any food obsessions or habits of overeating you notice in your child. , If the doctor suspects PWS, they will perform a genetic blood test.
This blood test will confirm that your child has PWS.
The test will look for abnormalities on chromosome
15.
If there is a history of PWS in your family, you can also get prenatal testing to check your baby for PWS.The genetic test can also help you figure out if you may have other children with the same condition.
About the Author
Mary Adams
Specializes in breaking down complex lifestyle topics into simple steps.
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