Adult Years: Medical Needs

The medical complications associated with Prader-Willi syndrome are lifelong, therefore by now your child’s medical team is probably already in place. Of course, there can always be new issues that were not present before, so we again include an overview of the issues and specialists that are most commonly associated with Prader-Willi Syndrome. General information and specialists (each including topics specific to those specialties) are listed in the left column and medical concerns that are not specific to one area of medicine are listed in the right column.

Just as you have a primary doctor to provide routine check-ups and treatment for injuries or illness, the adult who has Prader-Willi syndrome also needs a primary doctor once they outgrow the pediatrician. The primary care provider should always take into consideration the potential medical issues that come with PWS, such as poor temperature regulation, a high pain threshold, the absence (or reduced likelihood) of vomiting, and concerns with anesthesia as these issues may impact proper diagnosis or treatment of illness or injury.

People who have Prader-Willi syndrome have decreased, yet thick and sticky saliva which makes them prone to cavities and increased tooth wear. Good oral hygiene and regular visits to the dentist are key in maintaining healthy teeth. Read the Dental tips & tricks sheet for more information.

The endocrinologist will continue to be a key part of your child’s medical team. The endocrinologist may continue prescribing growth hormone if it is determined that adult dosing is appropriate, as well as continue monitoring other hormone and thyroid levels and related medications.  (Note: PWCF’s position is that growth hormone should be continued throughout out life, however this is not standard practice yet and many adults must prove growth hormone insufficiency in order to continue growth hormone therapy.)

For additional information please read the following:

Health Care Providers Referral List

Growth Hormone – Across the Life Span, Efficacy & Safety of Long-term

Growth Hormone – Effective & Safe Long-term Summary 2010

Growth Hormone Treatment of Adults with Prader-Willi Syndrome

Summary of FDA Approval of Growth Hormone

Evaluation and Treatment of Adult Growth Hormone Deficiency: An Endocrine Society Clinical Practice Guideline

Growth Hormone for Adults with Prader-Willi Syndrome

We also recommend PWSA’s Growth Hormone Booklet

Numerous gastrointestinal issues such as reflux and/or gastroparesis (the inability of the stomach to empty its contents) may impact people with Prader-Willi syndrome and can become life-threatening if not properly addressed. Increased pain threshold and a reduced or absent vomit reflex can complicate diagnosis and treatment. Of particular concern is a the acute onset of severe stomach pain as this may signal a serious medical condition. Please see the following for important information:

 

Life Saving GI Evaluation Algorithm Chart

Acute Gastrointestinal Episodes Can be Life-Threatening

Medical Alert – Constipation in Individuals with PWS

Gastroparesis & Bowel Issues

Gastric Rupture & Necrosis in PWS (Journal Article)

A Comprehensive Overview of GI Issues in PWS

Medical Alert – Risk of Stomach Necrosis and Rupture

ismus (sometimes called “lazy eye”) is very common in Prader-Willi syndrome. Strabismus is a condition where the eyes are not properly aligned with each other; this can be caused by weak muscles (which is typical with PWS due to the global hypotonia) or a result of the brain not properly coordinating the eyes. Annual eye exams are recommended.

While scoliosis is generally diagnosed in childhood or adolescence, it can occur in adults too (either from not being diagnosed at a younger age or from degeneration) therefore visits to the orthopedist should still be part of an adult’s medical management plan. Additionally the orthopedist should monitor for osteoporosis: Osteoporosis Evaluation and Therapy in PWS

For more detailed information about monitoring for and managing scoliosis, please read the following:

Guidelines on Scoliosis Monitoring and Treatment

Comparison of Scoliosis Treatment in PWS

Scoliosis – Complications of Surgery 2008

Growth Hormone Effects on Scoliosis

Scoliosis and PWS – PWSA Survey

Scoliosis & PWS

Individuals who have Prader-Willi syndrome are at increased risk for respiratory issues, particularly central hypoventilation/apnea and obstructive apnea therefore a specialist such as an ENT or pulmonologist may be needed as part of your adult child’s team. A sleep study is the typical way to diagnosis apnea and to determine the severity in order to develop an appropriate treatment/management plan.

Please read the following for more information:

Central Adrenal Insufficiency – Relationship Between CAI and Sleep-Related Breathing Disorders

Sleep Journal Article on Narcolepsy in PWS

Respiratory Problems in PWS

Recommendations for Evaluation of Breathing Abnormalities Associated with Sleep in PWS

While the number of people impacted is low, there is an increased incidence of seizures in people who have Prader-Willi Syndrome compared to the general population, therefore a neurologist is part of the medical team for some families. It is important to note that often people who have PWS do not have the classic grand mal seizures most people picture, rather they can have just a subtle change in behavior or zoning out.

Some individuals who have Prader-Willi syndrome have psychiatric disorders, have the inability to cope with stress which then manifests itself in psychiatric symptoms, or may just have generalized depression or anxiety related to the recognition of their diagnosis of PWS and therefore may benefit from therapy and or psychotropic medication. The following information should be helpful for the Psychologist or Psychiatrist treating an individual with PWS:

PWS – A Primer for Psychiatrists

Psychotropic Medication Tip Sheet

Effects of Topiramate in Adults with PWS – 2004 AJMR

Psychiatric Alert for PWS

Psychology – Cognitive Profile

The PWS Pesonality – What is Within Normal Limits

Behavioral Difference between Patients with PWS between genetic sub-types

Some individuals who have Prader-Willi syndrome may have a reduced ability to fight off infection or illness because of Central Adrenal Insufficiency. If this is an issue for your adult child, he or she may need hydrocortisone during times of illness. For more information please read Central Adrenal Insufficiency in Prader-Willi Syndrome.

Individuals with Prader-Willi syndrome, because of their decreased metabolism, do not typically respond to medication, including anesthetic agents, in the same way as others therefore caution should be taken when surgery is necessary. Please read Issues Affecting Prader-Willi Syndrome and Anesthesia and Anesthesia – Guidelines for Postoperative Monitoring.

“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

People with Prader-Willi syndrome tend to have a higher than normal pain threshold, therefore objective evidence (such as an x-ray, sonogram, etc.) should be obtained. There have been reports of individuals having broken bones but because of the absence of reported pain were only discovered once x-rayed.

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. Please read Inpatient Crisis Intervention for patients with PWS and Inpatient Medical Alert.

Both males and females with Prader-Willi syndrome experience hypogonadism, disrupted function of sex hormones and decreased fertility/infertility. Additional Reading: Hypogonadism in Females, Primary Testicular Dysfunction, and Documented cases of fertility.

Hyperphagia is a hallmark characteristic of Prader-Willi syndrome and a patient’s success often hinges on proper food control from ALL caregivers. The insatiable appetite combined with a reduced metabolism can lead to rapid weight gain and obesity in a very short time if ALL food is not strictly controlled by the patient’s parents or caregivers. Please see the section on Food Management for more information about controlling food intake.

Many individuals with Prader-Willi syndrome lack the vomit reflex and will not throw up when ill. Vomiting therefore may be a sign of very serious illness. It is important to note though that some individuals with PWS do vomit. Careful monitoring and evaluation should be conducted if someone who has PWS vomits. A key thing to consider is the likelihood that the individual has consumed something without the parent or caregiver’s knowledge; it is much harder to be sure that an adult hasn’t consumed something than a young child, so vomiting should always be considered a serious matter until all complications have been ruled out by the doctors.

Hypoventilation in Prader-Willi syndrome typically presents itself with sustained hypoxia which is not typical of non-PWS patients. Please read the recommendations for treating hypoventilation in Prader-Willi syndrome: Clinical Presentation of Obesity Hypoventilation and Right Heart Failure in PWS

Some people with Prader-Willi syndrome skin-pick and this behavior can impede healing after injury or surgery. Please read this Skin Picking article from Dr. Gourash of the Pittsburgh Partnership.

People with Prader-Willi syndrome typically have difficulty maintaining appropriate body temperature. Often the normal temperature of someone with Prader-Willi syndrome runs lower than average. It is important that medical staff know this because a normal temperature of 98.6 may in fact mean a slight fever for the individual with PWS, or what appears to be a slight fever may in fact be a sign of a more serious illness. Conversely, some individuals may not present with a fever even when ill, therefore the absence of a fever in the individual with PWS should not necessarily be taken as evidence that there is no illness/infection.

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:

Brochure – Nutrition & Activity Guidelines

Overview of Food & Behavior Management

Brochure – Overview of Food Behavior

Regulation of Weight in Prader-Willi Syndrome – Theoretical and Practical Considerations

Success of Low Carb, High Protein Diet

PWSA-USA also has several publications focusing on nutritional guidelines for PWS.

Water intoxication can, of course, happen to anyone who consumes an excessive amount of water, however it may be of particular risk to an individual with Prader-Willi syndrome if they require a particularly high level of supervision not just around food but around water. Please read PWSA’s Water Intoxication Alert.

Make Connections

PWCF maintains online and in-person Support Groups for parents and professionals.

PWSA (USA) maintains several Facebook support groups.