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.
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..
Resources About Choking and Swallowing
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 About Dental Issues
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 About Gastrointestinal Issues
- Stomach Problems
- MEDICAL ALERT! Risk of Stomach Necrosis and Rupture
- Comprehensive Overview of GI issues in PWS
- Acute Gastric Intestinal Episodes
- GI Gastroparesis: The Newest Threat
- Medical Alert: Constipation in individuals with Prader-Willi syndrome
- Life Saving GI Evaluation Algorithm Chart
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.
Resources about Growth Hormone
- PWSA (USA) Clinical Advisory Consensus Statement
- Adults and Growth Hormone
- How Much is too Much?
- Medical Overview for professionals
For more information go to pwsausa.org
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 Medical Alert
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.
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.
Dr. Linda Gourash (Pittsburgh Partnership) reports in her poster presentation, Clinical Presentation of Obesity Hypo ventilation 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 hypo ventilation 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.”
Resources About Obesity
- Obesity Still Kills
- Edema in PWS
- Clinical Presentation of Obesity Hypoventilation and Right Heart Failure in Prader-Willi Syndrome Poster
- Chapter 17-Dr.Gourash — inpatient crisis management
- Self Regulation in PWS
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.
- In-Patient Psychiatric Treatment and Weight Gain
- Psychotropic Medication Study
- Psychiatric Alert for Psychiatrist
- Psychotropic Medication Tip Sheet
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.
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.
- Respiratory Problems in Prader-Willi Syndrome
- Breathing Evaluation – Clinical Advisory Board Consensus Statement
- Instructions for saving a choking victim using the Heimlich Maneuver
- Sleep Disordered Breathing in Infants with PWS
- Sleep Problems in PWS
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.
- Guidelines on Scoliosis Monitoring and Treatment
- Scoliosis Survey Results
- Surgical Treatment of Spinal Deformity
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.
- N-Acetylcysteine for Skin-Picking in PWS
- Publication by Drs. Linda Gourash and Janice Forster of the Pittsburgh Partnership on Skin Picking
- Allegations of Abuse
Temperature Abnormalities including hypothermia Regulation
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.
- Hypothermia and Prader-Willi Syndrome – An Overview
- Atypical Antipsychotic Medications on Body Temperature
- Phenomenology of Malignant Hypothermia in PWS
- Winter Warning on Hypothermia in PWS
Vomiting or 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.
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.
- Overview of Food & Behavior Management, Weight Regulation Journal Article,
- Diet – Low Carb High Protein
- Diet – Calorie Serving Guide