GI Issues in PWS: Dr. Anne Scheimann [VIDEO]

This blog contains excerpts from a presentation on GI Issues in PWS given at the FPWR 2017 conference by Dr. Anne Scheimann.You can watch her complete presentation by clicking on the embedded video below.

In case you don't have time to watch the full video, we've captured some of the key points in the notes below.



How Common Are GI-related Symptoms? 

  • Early feeding difficulties are very common in infants with PWS
  • Frequent reports of reflux symptoms and inability to vomit

Note: Patients with PWS can have a very high tolerance for pain, and the severity of their symptoms may be overlooked.

Symptom Prevalence Among PWS Adults

  • About 30 percent: respiratory problems due to a chronic cough
  • 50 percent: sleep problems
  • 25 percent: diabetes
  • 30 percent: digestive problems
  • 20 percent: skin picking

Therapy Decreases NG/G tube time

  • PT/OT: In children who had occupational or physical therapy, their number of days requiring an NG tube dropped from 230 to 40 days
  • Nutrition: For children whose diet was supplemented, the number of days dropped from 90 to 42
  • Both: If both were done, the number of days dropped from 42 to 38

Swallowing Issues Among Adults and Children with PWS

  • In a study published in 2015, 97 percent of adults had fluid left in the esophagus even when the patient thought everything was clear
  • None of the participants could feel the residue, regardless of how much there was
  • Another study is under way


  • 2008 study looked at the prevalence of choking in children with PWS who had passed away
  • 40 percent of families reported history of choking
  • Choking listed as cause of death in 8 percent of cases
  • Majority were young adults
  • 92 percent were male

Choking Factors

  • Thicker saliva
  • Weaker pharyngeal muscles
  • Food-stealing behavior
  • Reflux that made the esophagus not work as well

Choking Interventions

  • Learn the Heimlich maneuver
  • Teach children and adults with PWS to recognize when they’re choking, how to let someone know and how to perform the Heimlich on themselves
  • Supervision of meals
  • Special monitoring during the holidays
  • Pacing of meals
  • Chewing prompts
  • Pace and chase: take a bite of food, take a drink of liquid 

Frequency of Constipation in PWS

  • In a published study, 21 patients with PWS were compared against 30 healthy volunteers
  • Study included a questionnaire, rectal exam & rectal size measurement
  • In the PWS patients: 47 percent had stools every two to three days, which is defined as constipation; 37 percent reported straining and 32 percent had hard stools
  • There was no difference in rectal diameter or transit time between the two groups

Constipating Conditions

  • Developmental delay
  • Reduced fluid volume
  • Hypothyroidism that isn’t fully treated
  • Lack of good toileting posturing

Note: There is a Constipation Alert for ER doctors to call for a surgical or GI consultation if there are significant issues with abdominal pain and distension in patients with PWS.

GI Emptying Evaluation

  • In one study, 4 out of 6 patients with PWS had delayed or abnormal stomach emptying after meals
  • They reported being hungry even though they had about 40 percent of the food still in their stomachs after four hours

Potential for a Dilated Stomach

  • Gastric dilation is a risk for patients who keep eating when their stomachs aren’t empty
  • It's difficult to diagnose
  • It can happen after a change in diet, for instance around the holidays
  • Symptoms include: belly distention, vomiting, lethargy, lack of appetite
  • If those red flags are present, patients should have Xrays 

Treatment for a Dilated Stomach

  • Goal is to get the stomach to relax
  • Can sometimes be accomplished at home with clear liquids
  • Decompression must be done at the hospital

Dangers of Dilation

  • Necrosis, or “death” of the stomach
  • Patient death by sepsis or other complication
  • Need for resectioning of the stomach

Bariatric Surgery

  • Not widely done for PWS
  • Approach is to create a “bypass,” leading to less intestines for food to pass through
  • Or to make the stomach smaller
  • Doctors have also put a balloon in the stomach 

Weight Loss 5 Years Post Procedure

  • PWS patients started gaining weight back within five years
  • Over time, procedure is less effective
  • Complication rate is higher in PWS patients than the general population

Outcomes of Sleeve Gastrectomy and PWS

  • Procedure makes the stomach much smaller
  • 14 PWS patients reported
  • Patients experienced improvements in: BMI, diabetes, sleep apnea 

Long-term Outcomes of Sleeve Gastrectomy and PWS

  • In 2016 study, researcher followed 24 PWS patients in Saudi Arabia for five years post procedure
  • Mean age of patients was 10.7 years
  • All had sleep apnea
  • Two-thirds had abnormal cholesterol or lipids
  • Half had high blood pressure
  • Diabetes was present in 25 percent
  • No one had growth hormone therapy
  • No problems reported with thyroid or adrenal glands

Long-term Outcomes of Sleeve Gastrectomy and PWS (continued)

  • BMI eventually increased
  • Sleep apnea improved
  • Lipid panel improved for 40 percent of patients
  • Blood pressure improved for 75 percent
  • No one had diabetes
  • No complications were reported

Note: Results have led to skepticism among other physicians in the PWS community who have advised cautious interpretation of the data.

Research Updates

PWS Modified Atkins Diet and Behavior Study

  • Being done at Johns Hopkins University
  • 9 months
  • Observation period before of one to four weeks
  • Four months on the diet, four months off the diet
  • 10-15 grams of net carbs
  • Children between 6 and 12 years old
  • BMI in at least 75th percentile
  • Exclusion criteria include: food allergies, very high cholesterol, diabetes

PWS Modified Atkins Diet and Behavior Study: Progress to Date

  • Seven children enrolled
  • Five girls, two boys
  • Four have completed the diet trial
  • Two are still on the diet
  • One had to leave

PWS Modified Atkins Diet and Behavior Study: Preliminary Results

  • Decreases in: insulin levels, hemoglobin A1Cs, triglyceride
  • Increase in: cholesterol & LDL
  • Weight maintenance achieved
  • Caretakers report marked change in behavior and attention span for children who have returned to a normal diet

Twin Microbiome Study in PWS

  • Baylor College of Medicine
  • 10 families with twins and multiple gestation
  • Samples have been received for seven families

dr jennifer miller standards of care for pws video

Topics: Research

Susan Hedstrom


Susan Hedstrom is the Executive Director for the Foundation for Prader-Willi Research. Passionate about finding treatments for PWS, Susan joined FPWR in 2009 shortly after her son, Jayden, was diagnosed with Prader-Willi Syndrome. Rather than accepting PWS as it has been defined, Susan has chosen to work with a team of pro-active and tireless individuals to accelerate PWS research in order to change the natural history of PWS. Inspired by her first FPWR conference and the team of researchers that were working to find answers for the syndrome, she hosted her first One SMALL Step walk in 2010 and began the development of the One SMALL Step walk program which now raises over $1.5 million a year for PWS research.

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