| Prader-Willi Syndrome, What is Prader_willi. Bright Tots - Information on child development - Autism information |
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| Prader-Willi Syndrome |
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Prader-Willi Syndrome (PWS) is a genetic disorder characterized by neurological impairments causing an unusual
pattern of growth and development related to an abnormally increased appetite with an excessive need for food
consumption. Prader-Willi Syndrome affects 1:12,000 -15,000 live births and is found in both genders and all races.
Physical characteristics of PWS include short stature, small hands and feet, and a characteristic facial appearance
consisting of a thin upper-lip, down-turned mouth, dental crowding, and almond shaped eyes. Developmental
milestones are delayed, and learning disabilities are always present, but may vary in severity. Behavioral problems
include temper tantrums, obsessive compulsive tendencies, and skin-picking. Its characteristics also include loss of
muscular strength, uncontrolled appetite, obesity, delayed pubescence; variable degrees of mental retardation or
functional retardation. Sexual development may occur early or late, but it is usually incomplete. Individuals with PWS
do not undergo spontaneous pubertal development and are infertile.
The stress on families is often immense. The constant pressure of food control and behavior management affects all
family members, such as higher divorce rates and siblings with emotional problems. The child with PWS can become a
dictator who rules the family and, with age, becomes more difficult to handle. Recognition of the strains and dealing
with them early on is essential to the family’s vitality.
Areas of Development
Children with Prader-Willi show developmental delays in all areas typically by one to two years behind children of the
same age. For example, walking usually occurs at about age two. Gross motor and balance are difficult skills for them
to master but are goals that slowly but surely will be achieved. Speech and language difficulty is common, although the
cause is not quite clear. Speech therapy is beneficial to ease the frustration with any communication deficiency. Though
language development is delayed, verbal ability is often a strong. However, articulation may remain weak. Logical
thinking and concepts (the idea of putting a plan into effect) are impaired. The average IQ is around 70, with a range
from 40 to 105. Even with a lower IQ, cleverness in finding food can occur.
Behavioral problems, ranging from stubbornness to violent temper tantrums which increase with age, usually begin to
appear during the preschool years. Other common characteristics include a high pain threshold, dental problems, and
breathing difficulties. Medical intervention therapy can be used to modify the severity of violent tantrums (e.g.,
fluexitine serotonin uptake inhibitors have been helpful in some cases). Other conditions such as depression and
psychotic episodes have been reported. Medications in most cases have not been found generally useful in controlling
appetite. Drug treatment is essential at times but is not recommended for permanent use. Consult the national PWSA
office or speak with your child’s physician for updates and information.
Motor skills like sports activities are limited. Running and jumping can cause joint injuries due to poor muscle strength
and coordination. There are occurrences of bone fracture, possibly related to fragile bones and decreased muscle mass.
Adaptive physical exercise is necessary during school years. Walking, swimming, and stationary exercise equipment are
recommended. Most cases of children with Prader-Willi syndrome become apparent to parents and physicians because
of their motor development (poor muscle tone), developmental delay, and/or obesity as infants.
Adults with PWS can function well in assisted living facilities with adequate control over food intake and a structured
living setting. Their difficult personalities and explosive tempers make supervision and counseling hard. Adults may lead
a productive life in a group setting with opportunity in light industrial workshops which offer the best employment
possibilities.
Weight Control and Obesity
Obsessive eating and a fixation with food usually begin between the ages of 2 to 4, although it may present later on.
Some children learn to eat at set times and may refuse certain foods, but the craving for food in general will always
persist. Sneaking or stealing extra food is typical. In most situations, all sources of food must be kept under lock and
key. This may involve uncommon discipline such as locking the refrigerator or kitchen cabinets. Avoid purchasing
foods that are tempting and fattening.
Obesity occurs in 95% of cases if there is no supervision over the amount of food absorption. About two-thirds of
individuals cannot vomit even after consumption of spoiled food or other foul substances. An increasing number of
children with PWS are being diagnosed before an onset of obesity. Whether obese at diagnosis or not, more and more
have their weight managed within acceptable numbers. Calculation of calories and exercise are critical to weight control
and obesity.
Possible Causes
The first patients with characteristics of Prader-Willi Syndrome were described by Dr. Prader, Dr. Willi, and Dr.
Lambert in 1956. Initially, scientists found that individuals with PWS have a region of genetic matter deleted (erased)
from chromosome 15. In order to have PWS, the genetic matter must be deleted from the chromosome 15 received
from one's father. If the deletion is on the chromosome 15 inherited from one's mother a different syndrome develops.
This important discovery proved for the first time that the genes inherited from one's mother can be perceived
differently than the genes inherited from one's father.
As more cases emerged scientist concluded that some individuals with PWS did not have deleted genetic matter from
chromosome 15. Further studies found that these patients inherit both copies of chromosome 15 from their mother.
This is not typical. Normally, an individual receives one chromosome 15 from their father and one chromosome 15
from their mother. When a person receives both chromosomes from the same parent it is called "uniparental disomy”
(UPD).
Scientists are still discovering other causes of PWS. A small number of patients with PWS have a change (mutation) in
the genetic matter on the chromosome 15 inherited from their father. This mutation prevents certain genes on
chromosome 15 from working properly. PWS develops when these genes do not work regularly.
Prader-Willi syndrome is caused by a deficiency in the crucial area of chromosome 15. Nearly 70% have an
imperfection and other abnormal findings in chromosome 15, which is detected by using high resolution cell and
chromosome analysis. PWS is an impressionable disorder caused by a faulty connection in the paternal copy of
chromosome15. There is a 50% chance of having more than one child with the disorder; it all depends on gene
formation.
Making a Diagnosis
During infancy the diagnosis of PWS may be noticeable due to poor muscle tone, feeding problems, small genitalia, or
the unique facial features are present. If an infant has these features, testing for PWS should be performed. This testing
should also be offered to children and adults who display features commonly seen in PWS (developmental delay,
uncontrollable appetite, small genitalia, etc.). There are several different genetic tests that can detect PWS. All of these
tests can be performed from a blood sample.
Methylation testing detects 99% of the cases of PWS. Methylation testing can detect the absence of the paternal genes
that should be normally active on chromosome 15. Although methylation testing can accurately diagnose PWS, it can
not determine if the PWS is caused by a deletion, maternal uniparental disomy (UPD), or a mutation that disrupts
imprinting. This information is important for genetic counseling. Therefore, additional testing should be performed.
PWS can be detected before birth if the mother undergoes amniocentesis testing or chorionic villus sampling (CVS).
This testing is only recommended if the mother or father is known to have a chromosome rearrangement, or if they
already have a child with PWS syndrome.
Treatment
At this time there is no cure for PWS. Early interventions like physical therapy help improve muscle tone. Some infants
with PWS also require special nipples and feeding techniques to improve weight gain.
Treatment and management during childhood, adolescence, and adulthood is generally focused on weight control. Strict
control of food intake is necessary to prevent obesity. A lifelong restricted calorie diet and a regular exercise program
are also advised. Unfortunately, diet medications have not been shown to significantly prevent obesity in PWS.
However, growth hormone therapy has been shown to improve the poor muscle tone and reduced height typically
associated with PWS.
Special education may be helpful in treating developmental delays and behavior problems. Individuals with PWS
typically excel in highly structured environments. Early intervention with a dietitian and behavioral psychologist to
prevent excessive weight gain in childhood is important. With appropriate interventions and ongoing support, people
with Prader-Willi Syndrome live a normal life expectancy. Most adults live with family or in accommodation with
various interventions.
pattern of growth and development related to an abnormally increased appetite with an excessive need for food
consumption. Prader-Willi Syndrome affects 1:12,000 -15,000 live births and is found in both genders and all races.
Physical characteristics of PWS include short stature, small hands and feet, and a characteristic facial appearance
consisting of a thin upper-lip, down-turned mouth, dental crowding, and almond shaped eyes. Developmental
milestones are delayed, and learning disabilities are always present, but may vary in severity. Behavioral problems
include temper tantrums, obsessive compulsive tendencies, and skin-picking. Its characteristics also include loss of
muscular strength, uncontrolled appetite, obesity, delayed pubescence; variable degrees of mental retardation or
functional retardation. Sexual development may occur early or late, but it is usually incomplete. Individuals with PWS
do not undergo spontaneous pubertal development and are infertile.
The stress on families is often immense. The constant pressure of food control and behavior management affects all
family members, such as higher divorce rates and siblings with emotional problems. The child with PWS can become a
dictator who rules the family and, with age, becomes more difficult to handle. Recognition of the strains and dealing
with them early on is essential to the family’s vitality.
Areas of Development
Children with Prader-Willi show developmental delays in all areas typically by one to two years behind children of the
same age. For example, walking usually occurs at about age two. Gross motor and balance are difficult skills for them
to master but are goals that slowly but surely will be achieved. Speech and language difficulty is common, although the
cause is not quite clear. Speech therapy is beneficial to ease the frustration with any communication deficiency. Though
language development is delayed, verbal ability is often a strong. However, articulation may remain weak. Logical
thinking and concepts (the idea of putting a plan into effect) are impaired. The average IQ is around 70, with a range
from 40 to 105. Even with a lower IQ, cleverness in finding food can occur.
Behavioral problems, ranging from stubbornness to violent temper tantrums which increase with age, usually begin to
appear during the preschool years. Other common characteristics include a high pain threshold, dental problems, and
breathing difficulties. Medical intervention therapy can be used to modify the severity of violent tantrums (e.g.,
fluexitine serotonin uptake inhibitors have been helpful in some cases). Other conditions such as depression and
psychotic episodes have been reported. Medications in most cases have not been found generally useful in controlling
appetite. Drug treatment is essential at times but is not recommended for permanent use. Consult the national PWSA
office or speak with your child’s physician for updates and information.
Motor skills like sports activities are limited. Running and jumping can cause joint injuries due to poor muscle strength
and coordination. There are occurrences of bone fracture, possibly related to fragile bones and decreased muscle mass.
Adaptive physical exercise is necessary during school years. Walking, swimming, and stationary exercise equipment are
recommended. Most cases of children with Prader-Willi syndrome become apparent to parents and physicians because
of their motor development (poor muscle tone), developmental delay, and/or obesity as infants.
Adults with PWS can function well in assisted living facilities with adequate control over food intake and a structured
living setting. Their difficult personalities and explosive tempers make supervision and counseling hard. Adults may lead
a productive life in a group setting with opportunity in light industrial workshops which offer the best employment
possibilities.
Weight Control and Obesity
Obsessive eating and a fixation with food usually begin between the ages of 2 to 4, although it may present later on.
Some children learn to eat at set times and may refuse certain foods, but the craving for food in general will always
persist. Sneaking or stealing extra food is typical. In most situations, all sources of food must be kept under lock and
key. This may involve uncommon discipline such as locking the refrigerator or kitchen cabinets. Avoid purchasing
foods that are tempting and fattening.
Obesity occurs in 95% of cases if there is no supervision over the amount of food absorption. About two-thirds of
individuals cannot vomit even after consumption of spoiled food or other foul substances. An increasing number of
children with PWS are being diagnosed before an onset of obesity. Whether obese at diagnosis or not, more and more
have their weight managed within acceptable numbers. Calculation of calories and exercise are critical to weight control
and obesity.
Possible Causes
The first patients with characteristics of Prader-Willi Syndrome were described by Dr. Prader, Dr. Willi, and Dr.
Lambert in 1956. Initially, scientists found that individuals with PWS have a region of genetic matter deleted (erased)
from chromosome 15. In order to have PWS, the genetic matter must be deleted from the chromosome 15 received
from one's father. If the deletion is on the chromosome 15 inherited from one's mother a different syndrome develops.
This important discovery proved for the first time that the genes inherited from one's mother can be perceived
differently than the genes inherited from one's father.
As more cases emerged scientist concluded that some individuals with PWS did not have deleted genetic matter from
chromosome 15. Further studies found that these patients inherit both copies of chromosome 15 from their mother.
This is not typical. Normally, an individual receives one chromosome 15 from their father and one chromosome 15
from their mother. When a person receives both chromosomes from the same parent it is called "uniparental disomy”
(UPD).
Scientists are still discovering other causes of PWS. A small number of patients with PWS have a change (mutation) in
the genetic matter on the chromosome 15 inherited from their father. This mutation prevents certain genes on
chromosome 15 from working properly. PWS develops when these genes do not work regularly.
Prader-Willi syndrome is caused by a deficiency in the crucial area of chromosome 15. Nearly 70% have an
imperfection and other abnormal findings in chromosome 15, which is detected by using high resolution cell and
chromosome analysis. PWS is an impressionable disorder caused by a faulty connection in the paternal copy of
chromosome15. There is a 50% chance of having more than one child with the disorder; it all depends on gene
formation.
Making a Diagnosis
During infancy the diagnosis of PWS may be noticeable due to poor muscle tone, feeding problems, small genitalia, or
the unique facial features are present. If an infant has these features, testing for PWS should be performed. This testing
should also be offered to children and adults who display features commonly seen in PWS (developmental delay,
uncontrollable appetite, small genitalia, etc.). There are several different genetic tests that can detect PWS. All of these
tests can be performed from a blood sample.
Methylation testing detects 99% of the cases of PWS. Methylation testing can detect the absence of the paternal genes
that should be normally active on chromosome 15. Although methylation testing can accurately diagnose PWS, it can
not determine if the PWS is caused by a deletion, maternal uniparental disomy (UPD), or a mutation that disrupts
imprinting. This information is important for genetic counseling. Therefore, additional testing should be performed.
PWS can be detected before birth if the mother undergoes amniocentesis testing or chorionic villus sampling (CVS).
This testing is only recommended if the mother or father is known to have a chromosome rearrangement, or if they
already have a child with PWS syndrome.
Treatment
At this time there is no cure for PWS. Early interventions like physical therapy help improve muscle tone. Some infants
with PWS also require special nipples and feeding techniques to improve weight gain.
Treatment and management during childhood, adolescence, and adulthood is generally focused on weight control. Strict
control of food intake is necessary to prevent obesity. A lifelong restricted calorie diet and a regular exercise program
are also advised. Unfortunately, diet medications have not been shown to significantly prevent obesity in PWS.
However, growth hormone therapy has been shown to improve the poor muscle tone and reduced height typically
associated with PWS.
Special education may be helpful in treating developmental delays and behavior problems. Individuals with PWS
typically excel in highly structured environments. Early intervention with a dietitian and behavioral psychologist to
prevent excessive weight gain in childhood is important. With appropriate interventions and ongoing support, people
with Prader-Willi Syndrome live a normal life expectancy. Most adults live with family or in accommodation with
various interventions.
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