|
Prader-Willi
Syndrome
MEDICAL ALERT:
A Diagnosis and Reference Guide for Physicians and Other Health
Professionals
Prader-Willi Syndrome
Basic Facts |
5. DIAGNOSIS
5. DIAGNOSIS of
infants with PWS is difficult. Newborns are hypotonic, lethargic, exhibit genital
hypoplasia, and often require gavage or other special feeding techniques. Prenatally,
fetal movement is decreased. Diagnosis in adults is more certain if classic
characteristics are present: short stature, small hands and feet, CNS dysfunction,
underdeveloped sexual characteristics, poor large muscle strength. Diagnostic criteria
have been established (Holm, et. al:Pediatrics 01:398-402, 1993)
of
infants with PWS is difficult. Newborns are hypotonic, lethargic, exhibit genital
hypoplasia, and often require gavage or other special feeding techniques.
Prenatally,
fetal movement is decreased. Diagnosis in adults is more certain if classic
characteristics are present: short stature, small hands and feet, CNS dysfunction,
underdeveloped sexual characteristics, poor large muscle strength. Diagnostic criteria
have been established (Holm, et. al:Pediatrics 01:398-402, 1993) |
| 1. PRADER-WILLI SYNDROME
(PWS) 1. PRADER-WILLI SYNDROME
(PWS) is an uncommon non-inherited birth defect, lifelong and life-threatening,
affecting all races and both sexes. Prevalence is estimated to be 1:12,000 to 15,000.
|
6. MOTOR DEVELOPMENT
6. MOTOR DEVELOPMENT
is delayed typically on to two years, as are most milestones. For example, walking usually
occurs around age two. Poor gross motor performance and balance improve slowly and lag
behind normal individuals of the same age.
is delayed typically on to two years, as are most milestones. For example, walking usually
occurs around age two. Poor gross motor performance and balance improve slowly and lag
behind normal individuals of the same age. |
| 2. CHARACTERISTICS
2. CHARACTERISTICS
include hypotonia, insatiable appetite, obesity if food intake is uncontrolled,
hypogonadism and incomplete sexual development, developmental delays, variable degrees of
mental retardation or functional retardation, short stature (adult), small hands and feet,
mild dysmorphology, and behavior problems which can be severe.
include hypotonia, insatiable appetite, obesity if food intake is uncontrolled,
hypogonadism and incomplete sexual development, developmental delays, variable degrees of
mental retardation or functional retardation, short stature (adult), small hands and feet,
mild dysmorphology, and behavior problems which can be severe. |
7. SPEECH AND LANGUAGE
PROBLEMS 7. SPEECH AND LANGUAGE
PROBLEMS are common. Cause is unclear, possibly poor muscle tone affecting
vocal muscles and/or decreased saliva production. Speech therapy is recommended to relieve
frustration associated with non-communication. Though language development is delayed,
verbal ability is often a strength. Articulation may remain poor.
are common. Cause is unclear, possibly poor muscle tone affecting
vocal muscles and/or decreased saliva production. Speech therapy is recommended to relieve
frustration associated with non-communication. Though language development is delayed,
verbal ability is often a strength. Articulation may remain poor. |
| 3. CAUSE
3. CAUSE is
unclear. Approximately 70% have an interstitial deletion or other abnormal finding on
chromosome 15, using high resolution (prometaphase) analysis. The remainder have two
maternal chromosome 15s and no paternal 15 (maternal uniparental disomy).
is
unclear. Approximately 70% have an interstitial deletion or other abnormal finding on
chromosome 15, using high resolution (prometaphase) analysis. The remainder have two
maternal chromosome 15s and no paternal 15 (maternal uniparental disomy). |
8. AVERAGE I.Q.
8. AVERAGE I.Q. is
around 70, with a range from 40 to 105. Typically, functioning is below I.Q. level.
Abstract thinking and concepts are weaknesses. Even with a lower I.Q., cleverness in food
seeking can exist. is
around 70, with a range from 40 to 105. Typically, functioning is below I.Q. level.
Abstract thinking and concepts are weaknesses. Even with a lower I.Q., cleverness in food
seeking can exist. |
| 4. RISK
4. RISK of
recurrence in a family is low, estimated to be less than 1%.
of
recurrence in a family is low, estimated to be less than 1%. |
9. BEHAVIOR PROBLEMS,
9. BEHAVIOR PROBLEMS, ranging
from stubbornness to violent temper tantrums and increasing with age, usually begin to
appear during the preschool years when most are pleasant and cooperative. Intervention
therapy can be used to modify severity (e.g., fluexitine serotonin uptake inhibitors have
been particularly beneficial in some cases). True depression and psychotic episodes are
reported. ranging
from stubbornness to violent temper tantrums and increasing with age, usually begin to
appear during the preschool years when most are pleasant and cooperative. Intervention
therapy can be used to modify severity (e.g., fluexitine serotonin uptake inhibitors have
been particularly beneficial in some cases). True depression and psychotic episodes are
reported. |
| 10. COMPULSIVE EATING AND
OBSESSION 10. COMPULSIVE EATING AND
OBSESSION WITH FOOD begin usually between
ages 2 - 4, though they may start later. Some learn to eat at fixed times and may refuse
certain foods, but the insatiable drive for food persists. Sneaking or stealing extra food
is common. In most situations, all sources of food must be kept under lock and key.
Avoidance of temptation is helpful.
WITH FOOD begin usually between
ages 2 - 4, though they may start later. Some learn to eat at fixed times and may refuse
certain foods, but the insatiable drive for food persists. Sneaking or stealing extra food
is common. In most situations, all sources of food must be kept under lock and key.
Avoidance of temptation is helpful. |
15. CONDITIONS ASSOCIATED
WITH PWS 15. CONDITIONS ASSOCIATED WITH PWS
include strabismus, myopia, scoliosis (may occur unusually early; often not
recognized due to obesity), and diabetes (Type II, probably secondary to the
obesity, responds well to weight loss and diet).
include strabismus, myopia, scoliosis (may occur unusually
early; often not recognized due to obesity), and diabetes (Type II, probably
secondary to the obesity, responds well to weight loss and diet). |
| 11. OBESITY
11. OBESITY occurs
in 95% if there are no environmental controls. An increasing number are being diagnosed
before onset of obesity. Whether obese at diagnosis or not, more and more have their
weight managed within acceptable levels. Calorie utilization is decreased and diets should
offer fewer calories than usual (often 1,000-1,200 per day). Exercise is critical to
weight control. occurs
in 95% if there are no environmental controls. An increasing number are being diagnosed
before onset of obesity. Whether obese at diagnosis or not, more and more have their
weight managed within acceptable levels. Calorie utilization is decreased and diets should
offer fewer calories than usual (often 1,000-1,200 per day). Exercise is critical to
weight control. |
16. MEDICATIONS16. MEDICATIONS,
e.g., anorexic agents or psychoactive drugs, in most cases have not been found generally
useful to control appetite. Drug treatment is essential at times but is not recommended
for continuing usage. Consult the national PWSA office for updates. For some medications,
increased sensitivity to normal doses is found. |
| 12. SEXUAL DEVELOPMENT
12. SEXUAL DEVELOPMENT
is deficient due to hypogonadotrophic hypogonadism. Males have hypoplastic scrotum and
crytorchidism; females have hypoplastic labia minora and clitoris. Puberty may be early or
late in onset and is usually incomplete. Females generally have oligomenorrhea or
amenorrhea. Fertility has not been documented in either sex.
is deficient due to hypogonadotrophic hypogonadism. Males have hypoplastic scrotum and
crytorchidism; females have hypoplastic labia minora and clitoris. Puberty may be early or
late in onset and is usually incomplete. Females generally have oligomenorrhea or
amenorrhea. Fertility has not been documented in either sex. |
17. ADOLESCENTS AND ADULTS
17. ADOLESCENTS AND ADULTS
can function well in group living programs if they have adequate calorie control and
structured living. Their rigid personalities and explosive tempers make supervision and
programming difficult. Sheltered workshops generally provide the best employment
possibilities.
can function well in group living programs if they have adequate calorie control and
structured living. Their rigid personalities and explosive tempers make supervision and
programming difficult. Sheltered workshops generally provide the best employment
possibilities. |
| 13. SPORTS ACTIVITIES
13. SPORTS ACTIVITIES
are limited. Running and jumping can cause joint injuries due to poor muscle strength and
poor coordination. Incidence of bone fractures is increased, probably related to
osteoporosis and decreased muscle bulk. Adaptive physical exercise is necessary in school.
Walking, swimming, and stationary exercise equipment are recommended. |
18. LIFE EXPECTANCY
18. LIFE EXPECTANCY
may be normal if weight is controlled. General health is usually excellent, although
premature aging is reported. Obesity and its complications are the usual causes of
morbidity and mortality.
may be normal if weight is controlled. General health is usually excellent, although
premature aging is reported. Obesity and its complications are the usual causes of
morbidity and mortality. |
| 14. DENTAL PROBLEMS
14. DENTAL PROBLEMS
are common and may include soft tooth enamel, thick sticky saliva, poor oral hygiene,
sometimes teeth grinding, and infrequently rumination. Orthodontia must take into
consideration delayed bone growth and abnormal puberty.
are common and may include soft tooth enamel, thick sticky saliva, poor oral hygiene,
sometimes teeth grinding, and infrequently rumination. Orthodontia must take into
consideration delayed bone growth and abnormal puberty. |
19. STRESS ON FAMILIES
19. STRESS ON FAMILIES
is often extreme. The constant pressure of food control and behavior management affects
all family members,. e.g., higher divorce rates and siblings with emotional problems. The
child with PWS can become a tyrant who rules the family and, with age, becomes more
dificult to handle. Awareness of these stresses and dealing with them early on is
essential to the family structure. |
MEDICAL ALERT
CHARACTERISTICS OF THE SYNDROME THAT COULD CREATE COMPLICATIONS DURING
ACUTE OR ROUTINE MEDICAL CARE, OR HOSPITALIZATION ARE LISTED BELOW:
1.) GENERALIZED RESPIRATORY DISTRESS or SLEEP APNEA
Due to massive obesity and hypoventilation syndrome. Excessive sleepiness is common.
Generally occurs in the more obese, but also in normal weight persons with PWS. Weight
loss can alleviate respiratory distress and may improve sleep disturbance.
2.) ADVERSE REACTION TO MANY DRUGS
Especially medication for weight reduction or behavior control. Prolonged sedation
results from usual doses of IM drugs.
3.) HIGH PAIN THRESHOLD AND A DYSFUNCTIONING THERMOSTAT
Potential factors in risk of undetected infections. Many will not complain of pain
until infection is severe. Idiopathic hyper- or hypothermia have been reported.
4.) LACK OF VOMITING
In about 2/3. Some will ingest almost anything (e.g., garbage). Emetics may be
ineffective, and repeated doses may cause more problems.
5.) SCRATCHING and SKIN PICKING
Common, with scars and sores in various stages of healing. Sores often kept irritated
for months by picking and may become infected.
6.) HYPOTONIA
Central, with poor suck and lethargy. Lasts for first several months of life. This
leads to feeding problems, easy fatigue, failure to thrive and sometimes in difficulty
clearing secretions.
7.) HYPOGONADISM
Underdeveloped genitals usually present throughout life. Cryptorchidism and inguinal
hernias are frequent in males. Inadequate secondary sex characteristics in both sexes have
good response to hormone treatments, although side effects have been reported. Growth
hormone has improved short stature due to lack of pubertal growth spurt and probable
partial growth hormone deficiency and has increased lean body mass and resulted in
decreased weight.
8.) HYPERPHAGIA
Insatiable appetite plus decreased resting metabolic rate lead to life-threatening
weight gain, which can be very rapid and occur even on a low calorie diet. A typical diet
still may contain too many calories. A nutritionally sound, restricted calorie diet is
essential from early childhood.
Even normal weight persons with PWS cannot be trusted around food. All become masters
at sneaking food around age 4. This skill increases with age. If weight is normal, it is
because the caretaker, not the person with PWS, has achieved control via such steps as
locks in the kitchen, constant vigilance, and adequate exercise/activity. It is very hard
to have food visable or be around others who are eating all they want. To date, no
medication or surgical intervention has been found helpful in most cases for long-term
weight control.
9.) BEHAVIOR and EMOTIONAL PROBLEMS
Due to the CNS dysfunction, complicated by multiple factors, most children and adults
with PWS have difficulty with stubbornness, temper tantrums, and depression, all of which
increase with age. When persons with PWS are distraught, "talking over" the
problem generally makes them more upset. Firm limits, "time out", and positive
rewards work best for behavior management. Medications may help short term. Serotonin
uptake inhibitors help in some cases in usual doses or less.
The Prader-Willi Syndrome Association (USA) was formed in 1975 in order to provide a
vehicle for communication for parents, professionals and other interested citizens. It is
an organization dedicated to the sharing of experiences in how to cope with the syndrome.
Chapters of PWSA(USA) are located in most states and are available for support, education
and advocacy.
An annual national conference, a bi-monthly newsletter entitled The Gathered View,
which incorporates contributions from members as well as professional advice and a wealth
of other written materials and publications on Prader-Willi Syndrome, are all part of
PWSA's effort to carry out its mission.
Supported solely by membership fees and donations, Prader-Willi Syndrome Association
(USA) has made a difference in the lives of many affected by this unique syndrome. YOU,
TOO, CAN HELP. Donations and membership applications may be sent to the address below.
Prader-Willi Syndrome Association (USA)
8588 Potter Park Drive, Suite 500
Sarasota, FL 34238
Phone: (800) 926-4797 Fax: (941) 312-0142
Email: pwsausa@pwsausa.org
edited:
08/26/2008 |
