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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 Insufficencies

Some individuals who have Prader-Willi syndrome may have a reduced ability to fight off infection or illness because of Central Adrenal Insufficiency. If your patient takes an exceptionally long time to recover from illness you may want to consider testing for Central Adrenal Insufficiency. For more information please read:

Anesthesia

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: prolonged and exaggerated responses have been reported.

Resources

Cardiac

The most common heart failure seen in PWS is obesity related right heart failure due to pulmonary hypertension as a result of hypoventilation, obstruction, obesity, etc. Keeping your child with PWS slim is the best way to prevent heart complications.

Choking and Swallowing

Ann Scheimann, MD, Pediatric Gastroenterologist states: “Factors predisposing someone to choking, a serious and not uncommon occurrence in persons with PWS, include hyperphagia (high drive for food), thick saliva, weak pharyngeal muscles, and reflux”

Dr. Scheimann advised all care providers to learn the Heimlich maneuver, treat reflux and gastritis symptoms, encourage chewing during meals, and, of course, supervise persons with PWS at all times.”see more”

Roxann Diez Gross, PhD,CCC/SLP states: Persons with PWS are highly likely to have an undetected swallowing problem that places them at risk for asphyxiation of a food bolus (choking), and they require a specific type of swallowing evaluation.. “see more”

Other Resources

Dental Issues

Dental problems are very common with PWS. Many of the dental problems with PWS are related to decrease salivary flow, 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.

Resources

  • Dental Tips and Tricks
  • Enamel erosion – severe tooth wear
  • Too Much Fluoride In Our Water?
    • The recommendation changed from an average of 1.2ppm to .7 parts per million of Fluoride in the water with the maximum now being 1.2ppm. Most local water supplies were at 1.0 parts per million of Fluoride before this. As for people who have Prader-Willi syndrome, normal drinking water with Fluoride is fine. Parents need to watch what is in bottled water because most have no Fluoride and that can lead to more decay. Because of the diminished salivary flow, people with Prader-Willi need at least the minimum of Fluoride to protect their teeth not less.
      Dr. Thomas Hughes, DDS
      Wisconsin General Dentist and Parent of Sarah w/PWS
  • Oral health in PWS – PowerPoint
  • Salivary Flow and Oral Abnormalities in PWS from the Taiwan International conference 2010 [Click here]

Fluid Retention/Oedema

“Fluid retention is usually noted first as swelling of the lower legs. In PWS this is a valuable warning sign that poor weight control is affecting the person’s health. Fluid retention in persons with PWS is usually a sign of a decreased ability to breath adequately due to excessive weight (“obesity hypoventilation”). With excessive weight, breathing abnormalities first develop during sleep and can be present silently for years without any other signs that something is amiss.” Read the full article here: Fluid Retention – Oedema

Flu and RSV

Flu Season is here — What should we do?
by Janalee Heinemann – Director of Research & Medical Affairs
Here are some questions that have come to me at PWSA (USA) and answers from members of our Scientific and Clinical Advisory Boards

Should we stop growth hormone treatment when our child has a respiratory problem?
There is no evidence that stopping GH during respiratory illness would have any benefit or not.
Jennifer Miller, M.D.

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; therefore I agree with Jennifer, GH should not be discontinued.
Moris Angulo, M.D.

Should my baby get the influenza vaccination? What age should he/she start?
The immunization rate in kids is about the same each year. It is down in adults so it is important that both the parents and children get vaccinated.

CDC recommends 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. There are circumstances where the individual needs two vaccinations delivered 4 weeks apart.
James Loker, M.D.

All infants starting at 6 months of age are eligible for the flu shot, they will need a 2nd vaccine 1 month later as this is the first year they are being vaccinated. Younger infants can have some environmental protection if all adults with whom they come in contact receive the flu vaccine each year. as long as vaccine supplies are available, the
vaccine should be given. This is different than the RSV Synagis monthly for selected infants
Marilyn Driscoll, M.D.

Insurance is denying paying for Synagis to prevent RSV. Aren’t our infants more at risk for RSV due to their increased respiratory risk? Shouldn’t insurances be required to pay?
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 broncho pulmonary dysplasia (BPD), infants with a history of premature birth (≤35 weeks gestational age), and children with significant congenital heart disease.

All other use would be considered off label. Synagis costs about $1,000 per shot every month during RSV season. insurance companies do not like to pay for an expensive medicine that is used off label. It is possible that if the cost comes down we may see more off label use of the medicine. It would take studies that would show not only safety of the shot but also a significant benefit to convince drug companies to lobby FDA to include PWS in the indications.

With the small numbers of infants with PWS it would be difficult to demonstrate a significant benefit. We need to keep an eye on this, but in the meantime we need to emphasize good hygiene in all infants with PWS. RSV is spread by contact. Parents need to wash their hands and use alcohol cleanser to reduce not just RSV but all infections in infants with PWS.
James Loker, M.D.

G – K

Gastric and Intestinal

Abdominal distention or bloating, pain, and/or vomiting 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

Resources:

 

Medical Alert: Stomach Problems Can Signal Serious Illness

Previously published in The Gathered View, March-April 1998
We have recently recognized and reported* an important medical condition in individuals with Prader-Willi syndrome which families and other care providers should know more about. Although the condition is not common in individuals with PWS, it is much more common in these individuals than in anyone else. It is important to recognize the condition because it can cause severe medical problems when diagnosis and treatment are delayed. The condition can be successfully managed, however, when recognized in a timely fashion.

We have called the condition acute idiopathic gastric dilatation. The condition often begins suddenly in individuals in their 20s or 30s. There is generally no known cause. The first symptoms of illness are vague central abdominal discomfort or pain and vomiting. Bloating of the abdomen, caused by swelling or distention of the stomach, may also appear at this time. The person’s temperature may also begin to become elevated at this point In addition, the individual often begins to look and feels quite ill.

Individuals in whom these symptoms appear should receive immediate medical attention:

  • abdominal pain
  • bloating or distention, and/or
  • vomiting

A simple X-ray or CT scan of the abdomen should be taken to look for abdominal distentioa If abdominal distention is present and the individual has pain but is relatively well appearing, a test called an endoscopy should next be performed to test the person’s stomach lining for signs of inflammation. If the individual has distention on X-ray and is quite ill, emergency surgery might be necessary to more closely examine the person’s stomach for signs of inflammation and necrosis [death or decay] of the tissue lining the stomach wall. When severe distention and necrosis is present, treatment consists of surgical removal of a significant portion of the stomach.

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) 1-800-926-4797

* Wharton RH et al. (1997) Acute idiopathic gastric dilation with gastric necrosis in individuals with Prader-Willi syndrome. American Journal of Medical Genetics, Dec. 31; Vol. 73(4): page 437-441.

Growth Hormone

Prader-Willi Syndrome Growth Hormone Deficiency and Treatment

The first research on using growth hormone (GH) with Prader-Willi syndrome (PWS) began in 198I. Two key pioneers in this field were Dr. Moris Angulo and Dr. Phillip Lee, both members of our PWSA (USA) advisory boards. In June 2000 growth hormone was the first (and to date the only) drug approved by the U.S. Food & Drug Administration (FDA) for the treatment of Prader-Willi syndrome. Since that time, an untold amount of children and adults with PWS have benefited from the use of growth hormone.

Questions still come to the PWSA (USA) office daily on the use of growth hormone. Some for which we have the answer or research to back it, and some where answers from professionals still varies. At what age do you start growth hormone? Should adults with PWS be on growth hormone? Are there risk factors with growth hormone? What do I do if insurance denies my child growth hormone? These are just a few of the many questions we will try to assist you with through research reports and articles from well-known professionals that deal with PWS. We also linking a booklet, Growth Hormone and Prader-Willi Syndrome that has extensive information, (given free to new parents in their Package of Hope). In this booklet are abstracts from various studies on growth hormone in PWS and an infant growth chart. The booklet can be ordered through the PWSA(USA) office. Some articles cannot be published on our website due to the journal copyright laws, but we have many of these articles if the PWSA (USA) office. For further questions or support on this topic, call the PWSA (USA) office at 800-926-4797800-926-4797.

Janalee Heinemann, MSW, Director of Research & Medical Affairs

Resources:

Hospitalization / Food Security

Inpatient procedures or hospitalization can present unique challenges for the patient with Prader-Willi syndrome both for crisis situations and routine treatment. For example, 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.

Hyperphagia (excessive appetite)

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. Those who have normal weight have achieved this because of strict external control of their diet and food intake.

High Pain Threshold

Lack of typical pain signals is common and may mask the presence of infection or injury to the extreme they may be able to still walk if it is broken. Someone with PWS may not complain of pain until infection is severe or may have difficulty localizing pain. Parent/caregiver reports of subtle changes in condition or behavior should be investigated for medical cause.

Hypothyroidism

Hypothyroidism is a condition in which the body lacks sufficient thyroid hormone. Since the main purpose of thyroid hormone is to “run the body’s metabolism,” it is understandable that people with this condition will have symptoms associated with a slow metabolism.

The estimates vary, but approximately 10 million Americans have this common medical condition. In fact, as many as 10% of women may have some degree of thyroid hormone deficiency. Hypothyroidism is more common than you would believe, and millions of people are currently hypothyroid and don’t know it.

Click here for a parent’s experience with this disorder.

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.

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.

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:

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.

Please read the following:

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