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Some key medical issues are in our booklet called MEDICAL ALERTS for parents and professionals. Call our office at (800) 926-4797 to get a handheld booklet on these conditions. This is a small booklet that parents and other caregivers should always carry with them that gives some of the most crucial medical information that would be needed in an ER setting. You can view the content in this document.

Download 2015 Medical Alert booklet – Click Here

Download 2015 GI Chart to be included with Medical Alert Booklet – Click Here

A – F

Adrenal or Cortisol Insufficiency (CAI)

Persons with PWS often have deficiencies of the pituitary hormones. The pituitary controls the adrenal gland, which is the source of cortisol. Cortisol an essential stress hormone which may be adequate in health, but during illness. Symptoms are subtle but may include exhaustion during illness and slow recovery. ACTH/ Central Adrenal Insufficiency should be considered in person with PWS; current research (2017) is not conclusive

Adrenarche

“Adrenarche” is the term for the development of sexual hair – underarms, genital, and facial hair. In childhood, this hair growth is the result of hormones (testosterone) made by the adrenal gland, and it is not true puberty, which occurs when the ovary or testes begin to make hormones. This system activates before real puberty, often at age 8 or 9 years. In children with PWS, this system can activate even earlier, for unknown reasons. Children may experience some growth of underarm hair at age 6 or 7 years. This does not mean true puberty will come early.

Anesthesia Concerns

People with PWS may have unusual reactions to standard dosages of medications and anesthetic agents. Use extreme caution in giving medications that may cause sedation and suppress breathing: prolonged and exaggerated responses have been reported. Many individuals with PWS require overnight observation for typically outpatient procedures due to slow clearance of anesthesia and the added effects of pain medications. Slowed recovery of GI function should be considered as well, and very cautious and slow transition to drinking and eating is advised to delay obstruction.

Resources

Basic Information

Behavior Patterns

Binge Eating

Hunger and food seeking are hallmarks of the disorder. Even normal weight persons with PWS may take the opportunity to quickly grab and swallow unguarded food. The danger here is not obesity or weight gain, but choking, obstruction, stomach rupture or necrosis.

  • See GI problems
  • See Food Security
  • See Poisoning

Breathing Issues

Respiratory health can be challenging because of the low muscle tone (muscles are needed for breathing) and sometimes impaired hypothalamic control of breathing. “Silent aspiration” is when fluids can enter the lungs rather than the stomach while drinking, due to abnormal swallowing patterns. Scoliosis and kyphosis can also impair chest expansion needed for healthy breathing.

 

  • See Sleep Apnea

Cardiac / Heart

Preventing obesity is the best way to prevent heart complications. The most common heart condition in PWS is right heart failure due to significant obesity. One symptom is leg swelling which should prompt an urgent evaluation by a physician.

Choking and Swallowing

Poor muscles tone, thick saliva, and often uncoordinated swallowing muscles contribute to problems with swallowing. All family members and providers should be able to perform the Heimlich maneuver. No person with PWS should eat alone; even water can be difficult to swallow.

Constipation

Bowel function is often impaired due to abnormal motility, poor muscle tone, and low metabolism. Lack of exercise contributes. Concerns about abnormal swallowing, bowel obstruction and motility function have shifted treatment away from a high fiber diet. Many individuals respond well to polyethelene glycol (Miralax) and/or scheduled toilet sitting.

Death

The lifespan for person with PWS has increased dramatically over the past decades as parents became empowered in optimal care of their children, preventing obesity and improving function through medications and therapies. Obesity issues cause the majority of deaths. Sudden unexpected deaths still occur. When a death occurs at any age or circumstances, PWSA offers counseling and support. We urge providers and parents to contact us when any death occurs in a person with PWS.

Dental Issues

Many of the dental problems with PWS are related to decreased saliva, and mouth breathing. Normal saliva is thin and washes the teeth clean, while the thick saliva associated with PWS sticks to the teeth and harbors bacteria that cause tooth decay and periodontal disease. Crowded arches contributes to misalignment of the teeth. Tooth wear, in terms of both erosion and attrition, is a severe problem in young adults with Prader-Willi syndrome. Fluoride needs are the same, not less, than other children.

Diagnosis and Testing

Very specific genetic testing is needed to make the diagnosis of PWS, but prior to this technology, the syndrome was described by physical findings.

Diet/Nutrition

All persons with PWS require lower calorie diets, with dietitian assistance needed to assure the nutrients are balanced. The caloric needs for good health are surprising low; muscle size and hypothalamic factors play a significant role in setting metabolic needs. PWSA(USA) has a variety of age-related booklets on nutrition which are available in the Shop. Various diets (modified ketogenic, low carbohydrate) are under investigation in 2017. Parents are cautioned to seek professional guidance when considering a change in diet or when adding supplements. Meals and snacks must be carefully planned, with no spontaneous snacks or food upon request; this structure is for behavior management more than just to control weight gain.

Eye Problems

Low muscle tone can affect eye muscle strength and many babies with PWS have difficulty coordinating their eyes (strabismus, sometimes called “lazy eye”). This needs to be closely monitored and evaluated by an ophthalmologist (MD). Vision can be permanently affected if this is not treated.

Flu (Influenza), RSV, Pneumonia

Individuals with PWS have higher rates of respiratory illnesses and must be protected. Influenza is not the same as “stomach flu”. It is a dangerous, life threatening respiratory infection with a significant death rate. It should be prevented through annual vaccination and hand washing.

Although GH has been mentioned to be contraindicated in cases of severe obesity and respiratory compromise, it does not mean that GH will worsen the symptoms of common respiratory illnesses. There is no evidence that stopping GH during respiratory illness would have any benefit.

CDC recommends influenza vaccine after 6 months of age especially in individuals at risk. All individuals with PWS would fit in the high risk category and should be vaccinated.
Synagis is indicated for the prevention of serious lower respiratory tract disease caused by respiratory syncytial virus (RSV) in pediatric patients at high risk of RSV disease such as infants with bronchopulmonary dysplasia (BPD), infants with a history of premature birth (≤35 weeks gestational age), and children with significant congenital heart disease.

Pneumonia is a broad term that covers many types of infections. All children are immunized for some pneumonias (HIB). There are immunizations for pneumonia given at age 65 years, and an immunization for pneumonia (Prevnar) given to people with specific risk factors; these do not include PWS.

Food Security

The hallmark of behavior control and weight management is a concept called “Food Security”. Individuals with PWS will have improved physical and mental health if food is not obtained by chance, by request, or on demand. These are key principles in management. Kitchens often need to be locked to reassure the individual with PWS that they cannot obtain food; this actually leads to decreased anxiety and is not a punishment, but a tool for success.

G – K

GI Problems - Stomach/ Intestines

Abdominal distention or bloating, pain, and/or vomiting (which is very rare in PWS) may be signs of life-threatening gastric inflammation or necrosis, more common in PWS than in the general population. Rather than localized pain, there may be a general feeling of unwellness. If an individual with PWS has these symptoms, close observation is needed. An X-ray and an endoscopy with biopsy may be necessary to determine degree of the problem and possible need for emergency surgery.

Anyone who has knowledge of other individuals who have had severe stomach problems or would like more information can get in touch with PWSA (USA) 1-800-926-47971-800-926-4797

Additional resources:

Growth Hormone

Research on using growth hormone (GH) with Prader-Willi syndrome (PWS) began in 198I. In June 2000, growth hormone was approved by the U.S. Food & Drug Administration (FDA) for the treatment of growth failure in Prader-Willi syndrome. Since that time, extensive research has substantiated global benefits of this therapy, beyond its impact on height.

High Pain Threshold

Decreased pain signals and sensation are common in PWS. This may mask the presence of infection or injury; a person with PWS may continue to walk on a broken ankle, for example, or not complain of pain until an infection is severe. Persons with PWS may have difficulty describing pain, and just complain of not feeling well. Parent/caregiver reports of subtle changes in condition or behavior should be investigated for a medical cause, especially when abdominal pain is suspected.

Hospitalization / Food Security

A hospital stay of any type can present unique challenges for the patient with Prader-Willi syndrome. It is crucial that all staff be aware of the need for strict food control and not allow the patient extra food or food items not on their approved diet plan. It is important that family members assume that staff have no previous experience with this rare syndrome.

Hunger / Appetite / Hyperphagia (excessive appetite)

Hunger (which starts after infancy) is a hallmark of the disorder; there is not currently any therapy that satisfies the relentless hunger and interest in food, although many research trials are devoted to understanding and solving this very difficult problem. Insatiable appetite may lead to life-threatening weight gain, which can be very rapid and occur even on a low-calorie diet. Individuals with PWS must be supervised at all times in all settings where food is accessible. Stealing or grabbing food is not uncommon; sneaking forbidden food often means rapid chewing and swallowing which is a leading cause of choking. Those individuals who have normal weight have achieved this because of strict external control of their diet and food intake; it does not mean that they will not take an opportunity to binge eat when unobserved. Control of food also improves behavior challenges.  See Family Resources for an extensive library of information on this topic.

Hypothyroidism (Low Thyroid Level)

Thyroid hormones are important to all cells in the body; thyroid is essential to maintaining a normal metabolism. The thyroid gland (located in the neck) is under the control of the pituitary gland (in the center of the brain), which in turn is regulated by the hypothalamus (region of the brain). Low thyroid function can be the result of the gland itself (either congenital or primary hypothyroidism); this is the most common and most severe type. All babies are tested after birth for congenital hypothyroidism. Less common and more difficult to diagnose is secondary or tertiary hypothyroidism – when the pituitary/hypothalamus do not fully stimulate the thyroid gland to make this important active hormone. It is this type of thyroid deficiency which is more likely in persons with PWS, rather than the type which is related to an inactive thyroid gland.

Hypothyroidism Handout

Hypothermia

Body temperature is under the control of the hypothalamus, so persons with PWS may have a normal temperature that is lower, or higher, than 98.6. Parents and caregivers should be aware of what is “normal” for their loved one. 94 degrees is considered dangerously low and requires immediate medical attention. Hypothermia may occur during minor illness and after receiving anesthesia. Fever may be absent despite serious infection.

L – R

Nutrition

Besides the hyperphagia, (uncontrollable drive to eat)children with PWS process calories more slowly than the general population. Research is still ongoing to determine if this is a problem with metabolism or due to a lack of enough lean muscle mass to burn calories at a normal rate.

Regardless of the cause, in order to avoid becoming obese and susceptible to a range of obesity related disorders (diabetes, respiratory and heart problems, etc.) a child with PWS must have a strictly regulated and monitored calorie intake in order to avoid significant weight gain.

PWS has been historically known as a two stage syndrome, with the first stage characterized by hypotonia (low muscle tone) and poor feeding in infancy, and the second stage exhibiting hyperphagia (an uncontrollable drive to eat) combined with weight gain on fewer calories. Current research through an extensive natural history study has shown that PWS is more of a multistage syndrome.

Please read: Intervention and Changing Clinical Perspectives in PWS

Resources:

Osteoporosis

Many individuals with PWS have osteoporosis (low bone mineral density). This condition is most often diagnosed in adolescence and adulthood. The cause(s) of the osteoporosis is not totally clear, but it is thought to be primarily due to the growth hormone and sex hormone deficiencies that occur in PWS. Hypotonia is probably a contributing factor as well.

Obesity

In studying the 163 PWS deaths that are in our PWSA (USA) Study of Death database, Dr. Stevenson wrote: “Regarding the obesity related deaths, in removing all pediatric cases and cases where cause of death was unknown or clearly not obesity related (accidents, choking, etc. – although some of them may have some obesity component), the average weight at death for these individuals was 257 lb.” Besides people with PWS being at greater risk of obesity, this obesity puts them at risk to die of obesity related complications. In separate international reports of deaths in PWS, there have been a large proportion (half or more) that were related to respiratory or cardiorespiratory disease.

Dr. Linda Gourash (Pittsburgh Partnership) reports in her poster presentation, Clinical Presentation of Obesity Hypoventilation and Right Heart Failure in Prader-Willi Syndrome, ” The all too familiar clinical picture of shortness of breath, decreasing physical activity, and leg swelling seen in morbidly obese persons with Prader-Willi syndrome is due to hypoventilation during sleep, leading eventually to respiratory failure with or without right heart failure. The onset may be rapid or slow but is always insidious, that is, initially unrecognized.”

Orthopedic Issues

Musculoskeletal manifestations, including scoliosis, hip dysplasia, fractured bones and lower limb alignment abnormalities, are described in the orthopedic literature. However, care of this patient population from the orthopedic surgeon’s perspective is complicated by other clinical manifestations of PWS.

Resources:

Poisoning

This study found an increased prevalence of poisoning in people with PWS compared to their non-PWS siblings. Several features of PWS, including the food-related behaviors (specifically ‘looking and searching for food’), decreased cognitive ability, eating unusual objects, and a history of extreme behaviors appear to correlate with this increased prevalence. Prescription, non-prescription drugs, alcohol and cleaning substances should be locked up. Spoiled foods should be disposed of carefully, and if the child or adult with PWS is an extreme food seeker, other items may need to be locked up.

Postoperative Monitoring of Patients in PWS

Patients with Prader-Willi syndrome are known to have increased morbidity after surgery due to:

  • Abnormal physiologic response to hypercapnia (excessivecarbon dioxide in the blood) and hypoxia (deficiency in the amount of oxygen reaching the tissues)
  • Hypotonia (low muscle tone)
  • Narrow oropharyngeal (airway) space
  • High incidence of central, obstructive and mixed apnea
  • Thick secretions
  • Obesity
  • Increased incidence of scoliosis with decreased pulmonary function
  • Prolonged exaggerated response to sedatives
  • Increased risk for aspiration
  • Decreased pain sensation
  • Gastric ileus or obstruction
  • Deep vein thrombosis

Here are some great links below to click on:

Psychiatric Alert, Concerns and Medications

Psychotropic medications have greatly enhanced the lives of many people with Prader-Willi syndrome, but not all respond to the same drugs and the same dose. These medications are also not the panacea for all of the complex behavioral and psychiatric issues of the syndrome. Is imperative to have a good understanding of when to use psychotropic medications in conjunction with good management, and what are the unique characteristics of the syndrome that may affect the person’s response to the medication.

Reaction to Medications

People with PWS may have unusual reactions to standard dosages of medications. Use extreme caution in giving medications that may cause sedation: prolonged and exaggerated responses have been reported.

Respiratory

Individuals with PWS may be at increased risk for respiratory difficulties. Hypotonia, weak chest muscles, and sleep apnea are among possible complicating factors. Anyone with significant snoring, regardless of age, should have a medical evaluation to look for obstructive sleep apnea.

Resources:

S – V

Scoliosis

Children with Prader Willi Syndrome have an incidence of developing scoliosis at rates between 40 -90%. Approximately15% of children with Prader Willi Syndrome will develop severe or significant curves, requiring bracing or surgery. The earlier the curve is detected, the better the possibilities for treating the curve with casting or bracing. There are two peak ages for scoliosis presentation in children with PWS. Under the age of 4 years, most of the curves are C-shaped, and are most likely related to the hypotonia. The second peak, centered around 10 years of age, typically is the more common idiopathic S-shaped curve. Fifteen percent of curves diagnosed before 4 years of age subsequently required surgical treatment, 41% of curves diagnosed after 4 years of age required surgical correction, as per a PWSA-USA survey of membership. Spinal deformities in children with PWS are often diagnosed late. This delay appears to be due to unique characteristics of spinal deformities in children with PWS, rather than the presence of obesity.

Fewer children with PWS now develop obesity, and often the curves are diagnosed prior to the onset of obesity. What seems to be the more important factor is that spinal deformities in children with PWS have less vertebral rotation than seen in other children with scoliosis curves of a similar size. Vertebral rotation causes the asymmetry of the chest wall seen during forward bending, usually the first sign of scoliosis. Therefore, the child with PWS may have a moderate curve radiographically, but only mild findings clinically. For that reason, there should be a much lower threshold for working up clinical findings in children with PWS, compared to otherwise unaffected children.

In view of the increasing number of infants and children with PWS undergoing sleep assessments prior to growth hormone treatment and the potential rise in surgical procedures (e.g., tonsillectomy) requiring intubation and anesthesia, it will be important to alert the medical team about complications. These complications may include trauma to the airway, oropharynx, or lungs due to possible anatomic and physiologic differences seen in PWS such as a narrow airway, underdevelopment of the larynx and trachea, hypotonia, edema, and scoliosis.’

Musculoskeletal manifestations, including scoliosis, hip dysplasia, fractured bones and lower limb alignment abnormalities, are described in the orthopedic literature. However, care of this patient population from the orthopedic surgeon’s perspective is complicated by other clinical manifestations of PWS.

Resources:

Skin-Picking in PWS

Because of a habit that is common in PWS, open sores caused by skin picking may be apparent. Individuals with PWS also tend to bruise easily. Appearance of such wounds and bruises may wrongly lead to suspicion of physical abuse.

Temperature Abnormalities (including Hypothermia)

Idiopathic hyper- and hypothermia have been reported. Hypothermia may occur during minor illness and in procedures requiring anesthesia. Fever may be absent despite serious infection.

Publication on hypothermia:

Sexuality - Hypogonadism

Both males and females with Prader-Willi syndrome experience hypogonadism, disrupted function of sex hormones and decreased fertility/infertility.

Sleep Problems

Sleep problems occur frequently among individuals with PWS. The most common problem is excessive daytime sleepiness (EDS). Sometimes EDS is related to sleep apnea that disrupts the quality and efficiency of sleep. Obstructive sleep apnea is associated with increasing body mass index (BMI). Central sleep apnea occurs independent of BMI. Many of our individuals experience oxygen desaturations as a result of these apneas, but some of this hypoxemia can occur independent of apnea or hypopnea. It is common for our individuals with PWS to receive sleep studies to investigate the occurrence of apnea or oxygen desaturation.

Please click on these links below to learn more:

Vomiting - Lack of Ability

Vomiting rarely occurs in those with PWS. Emetics may be ineffective, and repeated doses may cause toxicity. This characteristic is of particular concern in light of hyperphagia and the possible ingestion of uncooked, spoiled, or otherwise unhealthful food items. The presence of vomiting may signal a life-threatening illness.

Please click on the links below to read more:

Seizures

PWS Seizures Explanation & Medications

Usually ‘absence’ seizures last 10-30 seconds and ‘complex partial seizures’ may last 1-2 minutes (ictal) during which a person is unresponsive to others (won’t respond to name, will not answer questions) and then may be confused for 4-5 minutes afterwards (postictal confusion). If in fact the time duration is longer in terms of minutes, this would be a bit long for a seizure involving staring and ‘spacing out’ but could still be a complex partial seizure with a somewhat longer postictal confusion.

For seizures, the history is the most important part for diagnosis. The routine 20-40 minute EEG can often be normal, since the recording is not during the event. However, if the EEG does show epileptiform discharges (spikes and sharp waves that last a 10th to a 15th of a second but do not cause behavioral changes), then the EEG can be helpful with the diagnosis. For the history, we often spend time talking with whomever saw the person during the first 1-2 minutes of the event to learn what the person was doing during that time.

If the events occur very frequently, every day or at least several times per week, we can sometimes capture an event on combined EEG with simultaneous video (‘video/EEG’) recording 24 hours a day for several days. This is a very common test we use. This test can help us decide whether the events are really seizures or something else that would not benefit from increasing antiepileptic medications. If the events do not occur that frequently, video/EEG will not be able to capture an event, and we are back to relying on the history of those who have observed the events. Sometimes if the parents can capture video of the event at home, especially the first 2 minutes, this can be helpful to the neurologist.

Topamax can be a very good antiseizure medication and we use it frequently. The side effects are that at higher doses it causes ‘word-finding’ difficulties even in very verbal adults, so in general at the higher doses it can interfere some with language. Also, I have noticed some slowed responding to questions (slowed thinking?). Also, at higher doses there is decreased sweating, which can be a problem in the summer and a person needs to stay in the shade. Others need to know to look for reddened skin color indicating overheating. Also at higher doses Topamax can cause kidney stones, so a person on Topamax needs to be well-hydrated. Topamax, depending on the dose, is often very good to control both ‘absence’ and ‘complex partial seizures’ — the two kind of ‘spaced out’ seizures that we see most frequently.

Keppra also is a very good antiseizure medication and is good for complex partial seizures. Whereas Topamax tends to make a person quiet, Keppra tends to make a person more alert and active. Although this can be great first thing in the morning, being very alert can be a problem. So when I prescribe Keppra for the morning and bedtime, I tend to prescribe the larger dose in the morning, the smaller dose at bedtime and suggest giving the bedtime dose 1-2 hours before bedtime. Parents have told me giving Keppra near bedtime means it takes about 1 hour longer for the person to fall asleep, so I have suggested moving the start time for the bedtime routine an hour earlier.

The medications described above are just two of the antiseizure / antiepileptic drugs (AEDs). There are several other AEDs, which also are prescribed frequently. Each may be better for one kind of seizure or another, and each has potential side effects to be aware of. A neurologist is trained to take a careful history, interpret the EEG, and make appropriate recommendations regarding AED treatment.

There have been about 20 peer-reviewed published articles on seizures in PWS since 2003. Although one seizure type is termed ‘atypical absence’, this is in fact a very common, typical seizure pattern that we see and should be very recognizable to a neurologist. About 25% of persons with PWS will have at least one seizure in their lifetime, about 5 times more frequent than the general population.

**********************************
Douglas F. Rose, M.D.
Medical Director, CCHMC MEG Center
Professor of Pediatrics and Neurology
Cincinnati Children’s Hospital Medical Center, ML#11006
3333 Burnet Ave
Cincinnati, OH 45229 USA

 

Please read this informative publication:

Supplements

Considering Herbal Supplements

Be aware of herb/drug interactions. Herbs and drugs that have similar purposes (such as sedatives, blood thinners, or stimulants) should not be taken together, nor should herbs and drugs with opposite actions (a sedative herb taken with a stimulant drug, for instance). Ask your local pharmacist about any known adverse reactions, or check out the book Herb Contraindications and Drug Interactions, their edition, by Francis Brinker, ND. (Retails for $19.95)

Communicate with your physician. It is important to tell your doctor of any herbs you are taking, especially before surgery. Blood-thinning, sedative, and stimulant herbs may have adverse effects on surgery and subsequent recovery. Some herbs may interfere with prescribed medications, as well. Be sure to disclose any herbs or supplements you are currently taking if a new medication is prescribed.

Persons with Prader-Willi Syndrome may be more sensitive to medications. Hence, smaller dosages of herbs and drugs may cause the same reaction as larger dosages in other people.

Avoid taking herbs while pregnant or breastfeeding. There are some exceptions, such as ginger in capsule or candied form and chamomile tea. Always consult your obstetrician for more information to avoid possible complications.

Resources:

W – Z

Water Intoxication

Water intoxication has occurred in relation to use of certain medications with antidiuretic effects, as well as from excess fluid intake alone.

Weight Reduction / Nutrition

The propensity toward obesity can only be overcome with proper caloric intake and regular exercise. Typical weight loss medications and procedures have not been successful in patients with Prader-Willi syndrome.

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