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Health Care Guidelines For Individuals 
With Prader-Willi Syndrome

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Title Page 
General Considerations
   Recommendations For Health Care
       Neonatal (Birth to one month)
       One Month To 24 Months
       Two To Five Years
       Six to 11 Years
       Twelve To Twenty One Years
       Adulthood (Age 21 And Over)
   Selected Bibliography

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HEALTH CARE GUIDELINES
FOR INDIVIDUALS WITH
PRADER-WILLI SYNDROME

Written by:
Jeanne Hanchett, M.D. and Louise Greenswag, R.N. Ph.D.
Approved by:
The Scientific Advisory Board of the Prader-Willi Syndrome Association (USA)

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GENERAL CONSIDERATIONS

Management of Prader-Willi syndrome (PWS) requires a multidisciplinary approach to delivery of care. The combination of nutritional, medical, and behavioral problems is challenging. While the syndrome is often diagnosed in the neonatal period, it may not be suspected until the onset of obesity later in childhood. Consensus diagnostic criteria (see Appendix) are now available to assist practitioners in recognizing this syndrome.

The following guidelines are designed to be a resource for pediatricians, family practitioners, internists, geneticists, nurses, nutritionists, psychologists, allied health care providers, educators, and service agencies and as an aid to families and other caregivers. They are based on expert opinion of physicians and other care providers who have substantial experience with PWS. Published studies on management of this syndrome are few. A selected bibliography which is arranged by topic is included in these guidelines.

Genetic testing is important to prevent unnecessary evaluations, assure appropriate management, and permit genetic counselling. PWS can be caused by one of three genetic mechanisms (deletion in chromosome 15q11-q13 in approximately 70%; uniparental disomy 15 in approximately 25%; and an imprinting defect in approximately 5%). Genetic testing can be accomplished in a number of ways (American Society of Human Genetics/American College of Medical Genetics Report, 1996.). Methylation analysis is the most efficient and cost-effective screening test. When deletion 15q11-13 is identified, the father should be tested as he could silently carry an abnormality and have an increased recurrence risk. The test that detects all causes is methylation analysis. Genetic counselling is indicated for all families in which an individual has been diagnosed with PWS.

Infancy is marked by severe hypotonia leading to poor suck and failure to thrive. Thereafter, two characteristics dominate the clinical picture - a voracious appetite and aberrant behavior. The insatiable hunger requires establishment of life long strict nutritional guidelines and constant supervision in order to avoid morbid obesity and consequent medical problems. The emotional liability and problem behavior call for ongoing interventions. These health care guidelines include suggestions for managing concurrent medical, developmental, behavioral, educational, and social issues. The needs of each age group are addressed from the neonatal period through adulthood. As with any syndrome, not all features are present in every affected individual, and severity varies significantly.

People with PWS should receive the same standard health screenings and immunizations recommended for all well children, adolescents, and adults. General physical health usually remains good unless obesity becomes severe. The Prader-Willi Syndrome Association(USA)[1-800-926-4797] is an invaluable national source of information and support related to individuals with PWS of all ages.

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NEONATAL (BIRTH TO ONE MONTH)

Providing adequate nutrition to the hypotonic newborn is the primary concern in the first month of life.

Hypotonia

  • Despite normal Apgar scores in most cases, babies are lethargic, have a weak cry, are very hypotonic, do not wake to feed, and are generally unresponsive. Physical therapy may assist in overcoming hypotonia.
  • Diagnostic genetic testing can lead to avoidance of unnecessary evaluations for neuromuscular causes of hypotonia.

 

Nutrition

  • Sucking is weak and in some cases not present at all; babies do not act hungry or show interest in feeding. Special techniques and procedures are usually necessary to provide adequate nutrition such as special nipples, manipulation of mouth and jaw, gavage feedings and rarely, insertion of a gastrostomy tube.
  • Due to nutritional needs or complications resulting from hypotonia and poor feeding, prolonged hospitalization may be required.
  • Frequent visits to the primary care physician are necessary to monitor weight and adjust intake accordingly.
  • Assurance of adequate dietary fat for brain growth and development is essential.

Other Health Issues

  • Thermoregulation may be abnormal; the most frequent problem at this age is hypothermia.
  • Hypogonadism is manifested in males as undescended testicles, flat scrotum, and small penis. Small labia minora and clitoris are noted in females.

Family Issues

  • Parents need reassurance and supportive counselling since these babies tend to be very sleepy and unresponsive and require almost continuous attention in order to maintain nutrition.
  • Once the diagnosis has been established through appropriate genetic testing, an explanation of the nature of the syndrome and genetic counselling should be offered.

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ONE MONTH TO 24 MONTHS

Hypotonia lessens during the first year of life. Developmental delay may be severe in the first year; there is usually considerable improvement during the second year.

Nutrition

  • For those infants with continuing severe hypotonia, lethargy and weak suck, failure to thrive continues to require close attention to assure adequate nutrition.
  • Normal nutritional guidelines should be followed. Weight gain, slow in the first year, tends to become normal during the next 12 months and obesity at this age is uncommon. However, close continued nutritional monitoring is essential. Involvement of a dietitian is recommended.
  • Assurance of adequate dietary fat for brain growth is critical.

Developmental Issues

  • Delays in developmental milestones are evident in virtually all infants.
  • Increased alertness usually occurs by 6 months. Gross motor skills begin to improve; average age of sitting is 12 months and walking is about 24 months of age. Speech/language tends to be more delayed.
  • Early intervention programs should be initiated. These should include physical/occupational therapy and developmental stimulation. Speech therapy is also indicated.

Other Health Issues

  • Linear growth is variable. While most children have short stature and slow growth during infancy and early childhood, some may have normal growth. Height, weight, hand and foot length charts specifically for PWS should be consulted to determine if growth is adequate (see appendix). If indicated by poor linear growth, testing for growth hormone deficiency is appropriate.
  • Strabismus occurs in more than 50% of children and requires ophthalmologic attention and often surgical correction.
  • Temperature regulation may be a problem. Hyperthermia occurs more often than hypothermia and can be an issue during minor illnesses and during anesthesia for surgical procedures. It also can occur without apparent cause.
  • Decreased sensitivity to pain is apparent in many children. The reason for this is unclear. Attention should be paid to subtle evidence of pain, as it may suggest a serious problem (such as bone fracture).
  • Surgical correction of cryptorchidism should be considered although it may be unsuccessful. To date there have been no reported cases of cancer of testicles in males with PWS, and fertility does not occur.

Family Issues

Counselling should stress the importance of normal diet and appropriate weight gain during the first 2 years of life. Developmental acceleration between 12 to 24 months is encouraging to parents. The presence of a normal appetite during this second year may be misleading; parents may believe that the characteristic excessive hunger will not occur. Information, and supportive counselling are essential.

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TWO TO FIVE YEARS

During pre-school years, evidence of an insatiable appetite becomes apparent in the majority of cases. Developmental delays continue. Behavior problems and emotional lability may become a problem.

Nutrition

  • Unless food intake is controlled, an overwhelming majority of children begin rapid weight gain during these years. Institution of dietary restrictions is very important.
  • Fewer calories are needed to maintain normal growth and activity in children with PWS than normal children. Therefore low calorie diets are necessary. Caloric intake should be adjusted to maintain appropriate weight for height and weight should be monitored to avoid rapid increases and to assure adequate nutrition for brain development.
  • Supplemental vitamins and calcium should be assured

Developmental Issues

  • Developmental delays become less conspicuous. Fine motor and gross motor skills improve. Walking is occasionally delayed until 4-5 years of age.
  • Speech and language improve. However, most children have articulation errors that remain throughout life. Extreme delay in acquisition of speech may require use of signing and augmentative electronic communication devices. Many children become excessively talkative during these years.
  • Pre-school programs will enhance communication skills and encourage appropriate social interactions. Testing for pre-school program enrollment should be initiated. Physical, occupational and speech therapies are indicated.

Behavioral Issues

  • Most children are pleasant, affable, compliant, and happy members of their families.
  • Significant behavioral changes may begin to occur such as stubbornness, tantrums, and difficulty dealing with change. Hyperactivity occurs uncommonly.
  • Professional behavioral interventions at this stage can prevent more severe problems later. Institution of consistent and strictly enforced limits by all care providers is the single most helpful intervention.

Other Health Issues

  • General health is usually good unless morbid obesity occurs.
  • Surgical correction of cryptorchidisim and strabismus should be considered.
  • Scoliosis occurs at significantly increased frequency, and regular screening is essential.
  • Linear growth is variable. Short stature usually becomes apparent in childhood. However, normal height may be present early in life. Growth charts specifically for children with PWS are available (Butler and Meaney, 1991). Growth hormone deficiency is demonstrable in most children with PWS, and use of growth hormone treatment has been shown to be beneficial in many patients. Scoliosis may be accelerated by growth hormone treatment.
  • Disturbed thermoregulation may cause hyperthermia during minor illnesses and procedures that require anesthesia. Hypothermia also occurs.
  • Vomiting rarely occurs at any age in persons with PWS. Use of emetics such as Syrup of Ipecac may be ineffective, and multiple doses of this medication may cause toxicity. Rumination can occur; it may start during early childhood and may be mistaken for vomiting
  • Decreased sensitivity to pain is of unknown etiology and apparent in many cases. Careful attention to physical complaints is essential.
  • Skin picking begins in many children during this age period. It is best handled by ignoring and providing hand activities. Long sleeves and other protective clothing are helpful.
  • Dental caries can arise due to poor eating habits. Rumination, xerostomia (decreased saliva flow) and poor tooth brushing secondary to limited motor skills cause additional problems. Use of toothpaste and other products to increase saliva flow is beneficial.

Family Issues

  • Food restriction becomes a challenge and has an impact on the entire family system. Siblings, extended family members and all caregivers require education and counselling.
  • Anticipatory guidance regarding establishment of nutritional patterns and management of abnormal behaviors is essential.
  • Where the diagnosis of PWS may not have been suspected until the onset of obesity, genetic testing and counselling will be required.

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SIX TO 11 YEARS

In addition to weight control, behavioral and social challenges occur upon entering school. Many children have verbal skills that belie their true cognitive ability and mislead parents and educators. Educational goals require provision of opportunities for success that are developmentally rather than age appropriate.

Nutrition

  • Locking food within the home often becomes necessary during these years to avoid uncontrolled eating and obesity. An occasional individual will also drink to excess, causing fluid overload.
  • Caloric restrictions should be determined by the amount of weight gained. A decreased caloric requirement mandates a lower intake than for someone without PWS.
  • Appropriate lunches brought from home are advised since standard school lunches are usually too high in calories.
  • Teachers and other school personnel should be educated to the need for close supervision to insure adherence to a diet.
  • Family and school collaboration on creating a daily exercise program of at least 20-30 minutes is important. A regular program of physical activity, such as walking or swimming is essential to weight maintenance.
  • Adequate calcium intake should be assured to prevent osteoporosis.
  • Supplemental vitamins and calcium should be assured

Behavioral Issues

  • Care providers (family and educators) must be alert to signals of emotional upheaval. Increasing irritability, agitation, pacing, loud speech, and perseveration can escalate into tantrums. Destructive behaviors can disrupt the family and the classroom. Management may require consultation with behavioral specialists, psychologists, and psychiatrists.
  • Psychotropic medications in concert with behavioral strategies may be necessary. Selective serotonin reuptake inhibitors (e.g., fluoxetine and sertroline) have been particularly helpful in many patients.
  • Social and relationship skills training should begin in this age range.

Education

  • Intellectual functioning in individuals with PWS usually is in the borderline to mildly retarded range (average IQ: 70) though IQs can range from severely impaired to low average. Discrepancies have often been noted between verbal and performance test scores with verbal being higher.
  • Even when test scores are in the normal range, most children cannot generalize from one experience to the next. This becomes evident late in primary grades. Cognitive profiles and functional capacity are similar to those observed in children with learning disabilities. Many students with PWS show relative strengths in reading/decoding, expressive vocabulary, spatial-perceptual organization, and visual processing. Relative weaknesses are often seen in arithmetic, verbal abstractions, and auditory and motor short term memory tasks. Not every child with PWS shows these patterns however, and teaching strategies should always be based on individualized test profiles of strengths and weaknesses.
  • Occasionally, attention deficit disorder (with or without hyperactivity) is present and can be treated with medication.
  • Appropriate classroom placement should be based on psychological testing and Individualized Educational Plans (IEPs). Some children do well in regular classrooms in the primary grades unless such placement is confounded by verbal or physical aggressiveness. Many children require special education or resource room placement though often these can be mixed with some mainstream activities.
  • Somnolence in the classroom and diversion by thoughts of a special treat later in the day may interfere with learning and should be addressed.
  • Collaboration between families and educators regarding food issues and behavioral management is important for successful adaptation in school.
  • Evaluation for continued physical, occupational, and speech therapies is indicated.

Other Health Issues

  • General health is very good if weight is controlled. School days are rarely missed and children with PWS have fewer minor illnesses than their siblings. Weights should be recorded weekly by the school nurse and the family alerted if gain is excessive.
  • Skin picking is often a management problem but infection of lesions rarely occurs. Verbal prompts are ineffective and may result in increased picking. The best approach is to apply a bandage and ignore the behavior. No medication, either topical or systemic, has proved to be beneficial.
  • Dental care should include fluorides and supervision of daily oral hygiene. A small mandible often requires removal of some teeth to allow adequate spacing. Xerostomia is common, and saliva is thick and ropey and of decreased volume. Over the counter products to increase saliva flow (toothpaste, mouthwash, sugarless gum) are helpful.
  • Scolosis occurs at increased frequency and regular screening is indicated.
  • Lack of linear growth becomes increasingly apparent during elementary school years and absence of an early adolescent growth spurt is noted. Growth hormone increases linear growth and muscle mass in many children and early studies suggest beneficial effects. Scoliosis may accelerate during growth hormone treatment.

Family Issues

  • The time and effort that families must expend on restricting food and managing behaviors stress the entire family system. The need to lock food complicates family interactions and activities.
  • Parents may be unaware of how adept their children are at covertly obtaining food. Foraging at night and in the neighborhood is not uncommon. Children with PWS frequently manipulate neighbors, friends and strangers into providing food.
  • Education of extended family, educators, neighbors and community is essential. Siblings may require special support and counselling to help them adjust.
  • If the diagnosis of PWS is not suspected until this age, genetic testing and counselling is in order.

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TWELVE TO TWENTY ONE YEARS

Adolescence is traditionally a time of transition for all children. Adolescents with PWS become increasingly aware of the discrepancies between themselves and their peers . Maintaining a reasonable weight where sharing food is a social activity creates frustration. As these adolescents become aware that their future may not include many normal adult life cycle events, inappropriate behaviors may accelerate.

Nutrition

  • Weight management continues to be a challenge for families as the child reaches chronological adolescence. The freedom to participate in school and community life provides increased opportunities for finding food , often negating parents' efforts to limit consumption
  • Recommendations for caloric restrictions remain the same as in earlier years and should be based on linear growth. Caloric requirements are usually less than the estimated needs of adolescents of comparable height.
  • Adequate calcium and supplemental multivitamin intake should be assured.
  • Exercise programs should be a part of daily activities, with 30 minutes per day as a minimum.
  • School personnel require education regarding food restriction and food-related educational activities. One-to one supervision during the school day is sometimes necessary.

Behavioral Issues

As teenagers with PWS become more frustrated by limitations imposed by the syndrome, management becomes a formidable task. It is not unusual to observe increasing irritability, agitation, loud speech, uncooperativeness, compulsive-like behaviors, argumentativeness, rigidity, and perseveration indicating increased distress that may explode into tantrums and destructive behavior. Psychiatric and psychological intervention is often necessary. Effective interventions include strictly and consistently enforced limits, use of psychotropic medications (selective serotonin reuptake inhibitors, such as fluoxetine and sertroline) in concert with behavioral strategies. Extremely aggressive and destructive behaviors may rarely require out-of-home placement.

  • Stealing of food and money , hoarding, and manipulative behaviors tend to increase during these years.
  • Sensitivity and anticipatory management of those issues that may trigger outbursts can encourage expression of the kind, gentle, and cooperative characteristics of persons with PWS.

Education

  • With each change in educational setting, school personnel must be informed about the need to limit access to food and typical behavioral characteristics of PWS.
  • Persons with PWS should remain in school until age 21, where consistent daily and weekly schedules and limited transitions can help maintain behavioral control. This allows extra time for learning academic and self-help skills.
  • Classroom placement should be based on intellectual function and behavioral needs. Most affected individuals fit in self contained classes for students with mild mental retardation , while some are placed either in classes for the learning disabled or emotionally disturbed. Classroom aides are helpful where behavior is particularly problematic.
  • Outside consultation from a professional behavioral specialist may help to modulate behaviors in the school environment, since the limited capacity of these teenagers to cope with stress must be addressed.
  • Socialization is important. Proper guidance and encouragement in the school setting can have positive results when it is acknowledged that food consumption must be monitored at all times.
  • Prevocational instruction is important. It should begin during high school and will assist in transition to adult work programs. Individual Transition Plans (ITPs) are mandated in most states to begin by age 16 years, and help prepare the student for appropriate vocational, residential, and recreational options in young adulthood.
  • On-site community vocational placements should not include food-related work; despite extremely close supervision, persons with PWS will attempt to obtain food at every opportunity.
  • Practical issues such as acquiring community living skills, and social skills training should be incorporated into prevocational classes. Teaching should take into account the reality that individuals with PWS will not be able to live independently in an unsupervised setting.

Other Health Issues

  • General health remains good when weight is controlled.
  • Successful weight management is indicated when adolescents remain within normal percentiles for persons with PWS. Standard growth charts for children can also be used, taking into account short stature.
  • Type II diabetes mellitus may occur in those persons who become significantly obese. Periodic testing for blood glucose or glucosylated hemoglobin should be performed in all morbidly obese PWS persons.
  • Lack of an adolescent growth spurt is the rule without hormonal intervention. Adult height is usually achieved by age 16, sometimes by age 12. (Average Caucasian adult height is 60 inches for males, 56 inches for females).
  • Scoliosis, difficult to detect in the presence of obesity, occurs in at least 30% of persons and should be assessed during routine physical examination; kyphosis may also be noted. Scoliosis has progressed rapidly in a few individuals treated with growth hormone.
  • Osteoporosis may occur with increased frequency, therefore adequate weight bearing activity and calcium and vitamin D intake should be assured.
  • Short, wide feet, characteristic of this syndrome, require extra care in finding shoes that fit properly. Athletic shoes which are soft and somewhat flexible are the most comfortable; expensive customized shoes are rarely necessary.
  • Skin picking is a problem although lesions rarely become infected. Verbal prompts are ineffective and often result in increased picking. As at other ages, the best approach is to apply a bandage and ignore the behavior. Unfortunately no medication, either topical or systemic, has proved to be beneficial.
  • Dental care should include use of fluorides and supervision of daily oral hygiene. Products designed to increase saliva flow (special toothpaste, mouthwash and sugarless gum) are helpful in treating the abnormal saliva. Rumination can cause additional problems.
  • Puberty is usually delayed and incomplete, although pubic hair may appear earlier than expected. Irregular and scant menses may have onset during these years. Most males do not develop a beard until their twenties and usually it is sparse. Genital development is rarely complete. The use of replacement sex hormones has not been systematically studied, but is effective in improving secondary sex characteristics. Testosterone administration may be accompanied by aggression and unruly behavior in some males.
  • Enuresis can be treated with desmopressin acetate (DDAVP) nasal spray. Careful attention to dosage is necessary. Excessive water retention has been noted in a few individuals when the standard dose was prescribed, therefore close follow-up is necessary and consideration should be given to starting at a lower dose.
  • Hypoventilation and desaturation during sleep are common, and sleep apnea may occur if obesity becomes marked. Daytime sleepiness and sleep disordered breathing are reported in over 90% of individuals. These problems should be evaluated with sleep studies and treated aggressively. Treatment is the same as for those without PWS. Rapid weight loss must be achieved when hypoventilation is severe.

Family Issues

  • Medical and psychological support for families is essential when aberrant behaviors become difficult to manage.
  • Lack of consistency between home and school will undermine efforts to effectively manage behavior. There should be frequent communication between home and school.
  • Siblings may require counselling to help them adjust to problems related to having a brother or sister with PWS.
  • Legal guardianship becomes an important concern during this time. Parents must be helped to acknowledge that their child will never be fully independent. The expectation that persons with PWS are able to manage money is unrealistic; also, it will always be necessary to maintain external control of food consumption.

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ADULTHOOD (AGE 21 AND OVER)

The transition from childhood to adulthood is more difficult for anyone with developmental disabilities. People with PWS now live well into their middle and later years and parental responsibility does not decrease. Increased longevity requires anticipation of the unique needs of this older population. The structure of school ends at this time and families may find it difficult to obtain adult vocational services. Meaningful work requires special considerations. Physical health problems related to obesity remain a major concern. The need for social interactions increase and the desire to live independently continues. It is incumbent upon care providers to become educated about the physiologic, medical, and behavioral characteristics of the adult with PWS.

Nutrition

  • Individuals with PWS are never able to control their own food intake, and it is unrealistic to expect them to do so. Obesity tends to increase when vocational programs and independent activities allow greater access to food. This necessitates increasing restrictions on community mobility and independent activities, which is frustrating to persons with PWS and their families.
  • Frequent weight measurements are necessary and any increase or marked gain in a short period of time requires re-evaluation of the amount of supervision. There is great diversity in the types of diets used by different experts. In general, 1000 kcal/day will result in weight loss and over 1400 kcal .day will cause weight gain unless a vigorous exercise program is in place. Diets of 600-800 kcals per day may be necessary to lose weight rapidly and are optimally done during an inpatient stay or with very close monitoring.
  • Admission into a highly structured in-patient weight loss program is indicated when health deteriorates. Such a program should enforce diets as low as 600 kcal, provide appropriate physical conditioning/exercise routines, and be able to manage behavior.
  • Supplemental vitamins and calcium should be assured

Behavioral Issues

  • Typical behavior problems (argumentativeness, perseveration, moodiness, impulsivity, compulsivity, non-compliance, rigidity and tantrums) tend to persist. Psychiatric and behavioral management should be provided by professionals knowledgeable about PWS. Psychoactive medications in addition to behavior management programs are helpful.
  • Some people with PWS demonstrate only mild behavior problems and are productive workers in sheltered workshops or in supported employment.
  • A minority of adults with PWS develop symptoms of psychosis. Psychiatric hospitalization may be necessary. Interestingly, the drive to eat disappears in some cases when symptoms of psychosis appear.
  • Behavior problems often decline when an adult enters a structured group living situation that has staff trained in the management of PWS.
  • Most affected individuals develop platonic relationships with persons of both sexes; sexual activity is uncommon, but in some cases is coercive in nature with the person being victimized by others who use food as enticement. Respect for the dignity of the individual in pursuing meaningful friendships is important and should be taught.

Education/Vocational Training

  • Education within the public schools should be continued until age 21, or as long as state law allows. Ideally vocational training during high school years provides a smooth transition into an adult workshop setting. Food handling should not be a vocational option. Horticulture, structured housekeeping tasks, clerical work and some types of manufacturing tasks are appropriate.
  • Community college classes have been successfully completed by some adults.
  • Adults with PWS cannot be expected to independently manage money since most funds will be spent on food and other necessities will be neglected. Parents or other guardians may need to be the payee for checks.

Other Health Issues

  • Overall health status remains directly related to the degree of obesity present. The most common serious complication is type II diabetes mellitus. Every effort should be made to reverse obesity in order to control or eliminate this condition. Blood glucose or glucosylated hemoglobin testing should be done yearly or more often in morbidly obese persons. Right sided heart failure, stasis ulcers, and cellulitis become increasingly common with morbid obesity (defined as more than 100 % over ideal body weight).
  • When weight approaches 150%-200% overweight, profound hypoventilation and sleep apnea may ensue. To avoid early death, hospitalization and rapid weight loss is essential.
  • Hypertension requires treatment when it is detected and indicates the need for additional efforts to reduce weight.
  • Osteoporosis begins earlier than expected in males and females and may result in fractures. Adequate weight-bearing exercise and calcium and Vitamin D intake should be assured. New medications for osteoporosis may be helpful but have not been studied. Kyphosis is common.
  • Skin irritation and ulcers appear in fat folds and can be treated with a dilute vinegar solution and clotrimazole in addition to careful hygiene.
  • Fractures and intra-abdominal problems such as ulcers or appendicitis may be difficult to suspect because of many individuals' decreased sensitivity to pain.
  • Skin picking behaviors should be treated with low attention and require only cleansing and bandaging in most cases. Antibiotics are rarely necessary although infections of the lower legs in severely obese persons require oral or intravenous antibiotics. In addition to skin picking at least 20 other types of self abusive behaviors(SAB) have been identified. (BIB). The second most common type of SAB is rectal digging causing bleeding. Limiting time in the bathroom usually decreases this behavior since this is where it most often occurs. In rare instances bleeding becomes excessive, perirectal abscess occurs or the integrity of the anal sphincter is compromised. To those who are motivated to stop skin picking or other self abusive behaviors, offering an object to keep their hands "busy" is helpful.
  • Routine gynecological care should be provided. Although individuals with PWS are infertile, sexual information should be given that emphasizes the need for "safe sex" practices if sexual activity is pursued.
  • Females usually have scant and infrequent menses which are anovulatory in nature. Onset is usually after age 20. Menarche occurs over a wide age range, (age 7-38 in one series of patients). Menses vary in length, frequency and flow; excessive bleeding can be regulated with hormone replacement therapy.
  • Hypoventilation and desaturation during sleep are common, and sleep apnea may occur if obesity becomes marked. Daytime sleepiness and sleep disordered breathing are reported in over 90% of individuals. These problems should be evaluated with sleep studies and treated aggressively. Treatment is the same as for those without PWS. Rapid weight loss must be achieved when hypoventilation is severe.

Family / Living Issues

  • Issues of weight control are life-long. Persons with PWS never develop the ability to control their own food intake. Parents and caregivers are often unaware of the degree of cleverness and manipulation used to procure food. Traveling in the community on public transportation usually provides opportunities to buy or steal food. Door-to-door transportation should be arranged.
  • Because of the need for 24 hour supervision, adults usually move to structured community settings where qualified staff understand the need for strict food supervision and behavioral management. Guardianship issues should be addressed at this time if not already done. This move occurs at various times, depending on age and health of parents, availability of facilities, and the wishes of the affected person who often expresses a desire to move away from home as normal siblings do. Most community living arrangements-whether they are group homes dedicated to PWS, mixed diagnosis group programs, or supervised apartments, can be successful. They afford opportunities for development of friendships while maintaining contact with family members. This style of living usually results in satisfying day-to-day life patterns which include vocational and community activities.

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Selected Bibliography

 General

Cassidy SB (1984), Prader-Willi syndrome. Current Problems in Pediatrics. Chicago Yearbook Medical Publishers 14:1-55.

Cassidy SB (1997), Prader-Willi syndrome: Syndrome of the month. Journal of Medical Genetics 34:917-923.

Greenswag LR, and Alexander RC, eds Management of Prader-Willi Syndrome (2nd Ed) Y Springer Verlag.

Holm VA, Sulzbacher SJ, & Pipes PL(Eds) The Prader-Willi syndrome. Baltimore: University Park Press (45-53).

Holm VA, Cassidy SB, Butler MG, Hanchett JM, Greenswag LR, Whitman BY & Greenberg F (1993), Prader-Willi syndrome; Consensus diagnostic criteria. Pediatrics 91: 398-402.

 Genetics

Cassidy S (1995), Genetics of Prader-Willi syndrome In: Management of Prader-

Willi Syndrome (2nd ed) Greenswag LR, Alexander RC, eds New York:

Springer-Verlag pp 18- 31.

Cassidy SB, Schwartz S (1998), Prader-Willi and Angelman syndromes: Disorders of genomic imprinting. Medicine 77:140-156.

Nicholls RD, Saitoh S, Horsthemke B (1998). Imprinting in Prader-Willi and Angelman syndromes. Trends in Genetics 14:194-200.

 Nutrition

Akers M, & Mandella P (1984), Red yellow green system of weight control Pittsburgh, PA: The Rehabilitation Institute of Pittsburgh.

Butler MG, Butler RI, & Meaney FJ (1988), The use of skinfold measurements to judge obesity during the early phase of Prader-Labhart-Willi syndrome. International Journal of Obesity, 12:417-422.

Holm VA, & Pipes PL, (1976), Food and children with Prader-Willi syndrome. American Journal of Diseases of Children, 130:1063-1067.

Mullins J & Maier B (1987), Weight management of youth with Prader-Willi syndrome, International Journal of Eating Disorders 6(3): 419-427.

Sadler D (1995), Nutritional management In:Management of Prader-Willi Syndrome (2nd ed) Greenswag LR, Alexander RC, eds New York: Springer-Verlag 88- 114.

 Developmental

Dykens E, Hodapp R, Walsh K & Nash L (1992a), Profiles correlates and trajectories of intelligence in Prader-Willi syndrome. Journal of the American Academy of Child and Adolescent Psychiatry 31(6):1125-1130.

Gabel S, Tarter RE, Gavaler J, Golden WL, Hegedus AM & Maier B (1986), Neuropsychological capacity of Prader-Willi children: General and specific aspects of impairment. Applied Research in Mental Retardation 7:459- 466.

Greenswag LR (1985), Sexuality for people with Prader-Willi syndrome: Is ignorance bliss? Proceedings of National Conference of Prader-Willi Syndrome Association, Windsor Locks, CT

Hall, J. (1975). Sexuality and the mentally retarded. In R Green (Ed), Human sexuality: A Health practitioner's text Baltimore MD: Williams & Wilkins (181-195).

Greenswag LR, Singer S, Condon N, Bush H, Omrod S, Mulligan M, Shaw P (1995), Residential options for individuals with Prader-Willi syndrome. In Management of Prader-Willi Syndrome (2nd ed), Greenswag LR, & Alexander RC, eds. New York, Springer-Verlag 214-247.

Mitchell W (1988), Social skills training for Prader-Willi Syndrome. In Greenswag LR, & Alexander RC, (Eds). Management of Prader-Willi Syndrome (165- 170) New York; Springer-Verlag.

 Speech-language

Downey D, Knutson C (1995), Speech and language Issues In Management of Prader- Willi Syndrome (2nd ed.) Greenswag LR, Alexander RC, eds. New York: Springer-Verlag 142-155.

Kleppe SA, Katayama KM, Shipley KG & Foushee DR (1990), The speech and language characteristics of children with Prader-Willi syndrome. Journal of Speech and Hearing Disorders, 55:300-309.

Levine K, Wharton R & Fragala M (1993), Educational considerations for children with Prader-Willi syndrome and their families. Prader-Willi Perspectives, 1(3): 3-9.

Munson-Davis JA (1988), Speech and language development. In Greenswag LR & Alexander RC (Eds.), Management of Prader-Willi syndrome. New York: Springer-Verlag (124-133).

 Behavior/Psychiatric

Bartolucci G &Younger J (1994), Tentative classification of neuropsychiatric disturbances in Prader-Willi syndrome. Journal of Intellectual Disability Research 38(pt6): 621-9.

Borghgraef M Fryns JP & Berghe VD (1990), Psychological profile and behavioral characteristics in 12 patients with Prader-Willi syndrome Genetic Counseling: 38 141-150.

Boyle IR (1994), Psychiatric medication and Prader-Willi syndrome: Notes from the frontiers. Prader-Willi Perspectives, 2(2):4.

Clarke DJ (1993), Prader-Willi syndrome and psychoses. British Journal of Psychiatry 163:680-684.

Clarke DJ, Boer H, Chung MC, Sturmey P, Webb T(1996), Maladaptive behavior in Prader-Willi syndome in adult life. Journal of Intellectual Disability Research 40(2): 159-165.

Clarke DJ, & Webb T (1995), Prader-Willi syndrome and psychotic symptoms: Report of a further case. Irish Journal of Psychological Medicine 12(1):27-9.

Curfs LMG (1992), Psychological profile and behavioral characteristics in the Prader- Willi syndrome. In SB Cassidy (Ed.), Prader-Willi syndrome and Other Chromosome 15q Deletion Disorders, New York: Spring- Verlag (211-221).

Dykens E, Hodapp R, Walsh K & Nash L (1992b), Adaptive and maladaptive behavior in Prader-Willi syndrome. Journal of the American Academy of Child and Adolescent Psychiatry 31(6):1131-1136.

Dykens EM & Cassidy SB (1995), Correlates of maladaptive behavior in children and adults with Prader-Willi syndrome. American Journal of Medical Genetics 60(6):546-9.

Dykens EM, Leckman JF & Cassidy SB (1996), Obsessions and compulsions in Prader- Willi syndrome. Journal of Child Psychology and Psychiatry 37:995- 1002.

Hellings JA & Warnock JK (1994), Self-injurious behavior and serotonin in Prader- Willi syndrome. Psychopharmacology Bulletin 30:245-250.

Hodapp RM, Dykens EM & MasinoL (1997), Stress and support in families of persons with Prader-Willi syndrome . Journal of Autism and Developmental Disorders 27:11-24.

Marshall BD Jr, Wallace CJ, Elder J, Burke K, Oliver T & Blackman R (1981), A behavioral approach to the treatment of Prader-Willi syndrome. In VA Holm, SJ Sulzbacher & PL Pipes (Eds.) Baltimore: University Park Press, The Prader-Willi syndrome ( 185-199).

Taylor RL, (1988), Cognitive and behavioral characteristics. In ML Caldwell & RL Taylor (Eds) New York: Springer-Verlag, Prader-Willi syndrome: selected research and management issues (29-42).

Whitman B & Greenswag L (1995), Psychological and behavioral management. In Management of Prader-Willi Syndrome (2nd ed.). Greenswag LR, Alexander RC, eds. New York: Springer-Verlag pp 125-141.

Whitman B & Accardo P (1987), Emotional symptoms in Prader-Willi syndrome adolescents. American Journal of Medical Genetics 28: 897-905.

Wolff O (1987), Prader-Willi syndrome, psychiatric aspects. Journal of the Royal Society of Medicine 80:718-720.

 

Medical

Angulo M, Castro-Magana M, Mazur B, Canas JA, Vitollo PM, Sarrantonio M (1996), Growth hormone secretion and effects of growth hormone therapy on growth velocity and weight gain in children with Prader-Willi syndrome. Journal of Pediatric Endocrinology & Metabolism 9(3):393-400.

Bray G, Dahms W, Swerdloff R, Fiser R, Atkinson R & Carrell R (1983), The Prader- Willi syndrome: A study of 40 patients and a review of the literature. Medicine 62:59-80.

Butler MG & Meaney FJ (1991a), Standards for selected anthropometric measurements in Prader-Willi syndrome. Pediatrics 88:853-860.

Cassidy SB, Rubin KG & Mukaida CS (1987), Genital abnormalities and hypogonadism in 105 patients with Prader-Willi syndrome. American Journal of Medical Genetics 28: 922-923.

Hanchett JM (1993), Hypoventilation oxygen saturation levels and Prader-Willi syndrome. Proceedings of National Prader-Willi Syndrome Association Scientific Day.

Hanchett JM & Maier B (1995), A crisis intervention model for persons with Prader- Willi syndrome. In Management of Prader-Willi Syndrome (2nd ed). Greenswag LR, Alexander RC, eds. New York Springer-Verlag 265-273.

Harris JC & Allen RP (1996), Is excessive daytime sleepiness characteristic of Prader- Willi syndrome? The effects of weight change. Archives of Pediatrics & Adolescent Medicine 150(12):1288-93.

Hertz G, Cataletto M, Feinsilver SH, Angulo M (1995), Developmental trends of sleep-disordered breathing in Prader-Willi syndrome: the role of obesity. American Journal of Medical Genetics 56(2):188-90.

Hered RW, Rogers S, Zang YF, Biglan AW (1988), Ophthalamic features of Prader- Willi syndrome. Journal of Pediatric Ophthalmology & Strabismus 25(3):145-154.

Holm VA & Laurnen EL (1981) Prader-Willi syndrome and scoliosis. Developmental Medicine and Child Neurology 23:192-201.

Jones MW (1991), Scoliosis in Prader-Willi syndrome. Prader-Willi Syndrome and Other Chromosome 15q Deletion Disorders. NATO ASI series, H61:199- 209.

Kaplan J, Fredrickson PA & Richardson JW (1991), Sleep and breathing in patients with Prader-Willi syndrome, Mayo Clinic Proceedings 66:1124-1126.

Kaufman H, Overton G, Leggott J, Clericuzio C (1995), Prader-Willi syndrome: Effect of group home placement on obese patients with diabetes. Southern Medical Journal 88(2):182-4.

Kodish E & Cuttler L (1996), Ethical issues in emerging new treatments such as growth hormone therapy for children with Down syndrome and Prader-Willi syndrome. Current Opinion in Pediatrics 8(4):401-5.

Lee PDK, Hwu K, Brown B, Greenberg F & Klish W (1992b) Endocrine investigations in children with Prader-Willi syndrome. Dysmorphology and Clinical Genetics 6 27-28.

Lee PDK, Hwu K, Henson H, Brown BT, Bricker JT, LeBlanc AD, Fiorotto MD, Greenberg F & Klish WJ (1993), Body composition studies in Prader-Willi syndrome (PWS): Effects of growth hormone (GH) therapy. In KJ Ellis & JD Eastman (Eds), Newark: Plenum Press, Human body composition. In vitro methods models and applications ( 201-206).

Lindgren AC, Hagenas L, Muller J, Blichfeldt S, Rosenborg M, Brismar T, and Ritzen EM (1998), Growth hormone treatment of children with Prader- Willi syndrome affects linear growth and body composition faviourably, Acta Paediatr, 87:28-31.

Mallory GB, Fiser DH & Jackson R (1989), Sleep-association breathing disorders in morbidly obese children and adolescents, Journal of Pediatrics 115: 892-897.

Nilsson KO (1989), What is the value of growth hormone treatment in short children with specified syndromes? Turners syndrome, Osteochondrodysplasias, Prader-Willi syndrome, Noonan syndrome. Acta Pediatric Scandinavica 362 (suppl) 61-68.

Rees D, Jones MW, Owen R & Dorgan JC (1989), Scoliosis surgery in the Prader- Willi syndrome. Journal of Bone and Joint Surgery 71: 685-688.

Robson WL, Shasshi V, Nagaraj S, Norgaard JP (1997), Water intoxication in a patient with the Prader-Willi syndrome treated with desmopressin for nocturnal enuresis. Journal of Urology 157(2):646-7.

Schluter B, Buschatz D, Trowitzsch E, Aksu F, Andler (1997), Respiratory control in children with Prader-Willi syndrome. European Journal of Pediatrics 156(1):65-8.

Soriano RMG, Weisz I & Houghton GR (1988), Scoliosis in the Prader-Willi syndrome Spine 13:209-211.

Vgontzas AN, Bixler EO, Kales A, Centurione A, Rogan PK, Mascari M, Vela- Bueno A(1996), Daytime sleepiness and REM abnormalities in Prader-Willi syndrome: Evidence of generalized hypoarousal. International Journal of Neuroscience 87(3- 4):127-39.

Wang XC, Norose K, Kiyosawa K, Segawa K (1995), Ocular findings in a patient with Prader-Willi syndrome. Japanese Journal of Ophthalmology 39(3):284- 9.

 Dental

Hart S (1994), The oral manifestations of Prader-Willi syndrome: A review of the literature and results of a parent-reported questionnaire. Prader-Willi Perspectives 2:7-10.

Krautmann PJ, Barenie JT & Myers DR (1981), Clinical manifestations of Prader- Willi syndrome. Journal of Pedodontics 5: 256-261.

Nowak A (1995), Dental manifestations and management. In Greenswag LR & Alexander RC (Eds.). Management of Prader-Willi Syndrome. New York: Springer-Verlag 81-87.

Salako NO & Ghafouri HM (1995), Oral findings in a child with Prader-Labhart- Willi syndrome. Quintessence International 26(5):339-41.

 Education

Fryns JP (1991), Strengths and weaknesses in the cognitive profile of youngsters with Prader-Willi syndrome. Clinical Genetics 40(6): 430-434.

Lupi MH (1988), Education of the child with Prader-Willi syndrome. In Greenswag LR & Alexander RC (Eds.) New York: Springer-Verlag, Management of Prader-Willi syndrome (113-123).

Saporito AM (1995), Vocational concepts in Prader-Willi syndrome In Management of Prader-Willi Syndrome (2nd ed.). Greennswag LR, Alexander RC, eds New York Springer-Verlag 248-264.

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