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Standards of Care for Children and Adults with PWS [2021 CONFERENCE VIDEO]

In this video, Dr. Jessica Duis from Children's Hospital Colorado discusses a multi-disciplinary approach to care for children and adults with PWS.

In this 1-hour video, Dr. Jessica Duis, Clinical Geneticist from  Children's Hospital Colorado explains standards of care for children and adults with PWS. The session includes Q&A from participants in the 2021 FPWR Virtual Conference.

Click below to watch the video. If you're short on time, scroll down for timestamps to find the portions you're most interested in.


Presentation Summary With Timestamps

3:12 Dr. Jessica Duis presents

Standards of Care for Children and Adults with PWS 

  • Overview of the topics to be covered: evidence-based care recommendations, experiential data in the management of PWS, features of PWS and potential treatments, resources and tools to help in your talks with healthcare providers and schools.

4:17 Clinical Criteria for PWS

  • Clinical criteria for PWS was published in 2001. 
    • Features from birth to two years of age include hypotonia or low muscle tone, concerns about growth hormone deficiency, hyperphagia, concerns about learning and development, and a lack of interest in feeding. 
    • As age increases, other features of PWS include: a slowed metabolism; behavioral features including stubbornness, a need for structure, OCD-type behaviors, rapid changes in mood, skin picking, getting stuck on certain topics, and a focus on meal time; daytime sleepiness and cataplexy; and seizures.

5:50 What to Do When You Get a Diagnosis

  • When you get a diagnosis of PWS, it’s important to find your team. Find the people that you can trust and talk with. 
  • Be careful on Facebook. There are a lot of overly negative or positive posts. 
  • Remember there is no single right answer. Some people do things that are right for their family that may not work for you 
  • There are days that are going to be harder than others but don't ever lose hope.

7:42 IQ and Learning Profile

  • Medical literature reports mean IQ between the 60s and 70s for people with PWS, but this is outdated. We are not properly analyzing the level of intelligence of kids with PWS or how they learn.

8:30 Autism and PWS

  • Some autistic traits are part of PWS, including sensory seeking, needing to feel things to fall asleep, smelling items or inspecting items close to the face, holding items close to the ears to feel the vibration, and repetitive behavior.
  • However, studies have found poorer verbal skills are associated with higher ADOS scores, which calls into question the diagnosis of autism in individuals with PWS because verbal skills may be related to developmental concerns such as apraxia.
  • Applied behavioral analysis is often helpful in kids with PWS particularly during times of transition, such as getting started back at school. 
  • We provide a lot of referrals for autism-based therapy. 

10:48 Therapies 

  • Therapies are key. They start with early intervention services, usually through the state, and include occupational therapy, physical therapy, and speech therapy. 
  • Special therapies are often needed. These could include feeding therapy, interactive metronome therapy, Prompts for Restructuring Oral and Muscular Phonetic Targets, hippotherapy, applied behavioral analysis, sensory integration therapy, spider therapy, cognitive behavioral therapy, trauma-based therapy, and mindfulness. 

12:57 Active Lifestyle

  • It is important for people with PWS to have an active lifestyle. It provides social interaction, it doesn't have to be competitive, and it helps your child feel independent. 
  • It’s a good idea to set expectations for activities and offer rewards. 

13:50 PWS Personality

  • Individuals with PWS are people pleasers. 
  • They want to have a job, they want to be helpful, they want a social outlet, they love infants and animals, and they love competition, especially if they can win. 
  • You can use the things they love to do as a way to motivate them to be active. 

15:03 Behavioral outbursts

  • Behavioral outbursts are defined as becoming excessively angry or upset in a way that seems excessive for the situation and beyond the person’s control. 
  • Outbursts are a major concern with PWS, and they can raise safety issues. 
  • Outbursts can have many different triggers, including environmental changes, expecting an event to occur that doesn’t occur, transitioning between two events, anxiety, and excessive daytime sleepiness. 

18:00 Managing Outbursts

  • Management of outbursts starts with managing the environment. Medication alone is not an effective treatment.
  • Do a functional behavioral assessment in the setting where outbursts are occurring. 
  • Help with transitions by using a First Then system or a picture schedule. Make sure to include meals on the schedule to help individuals with PWS feel secure.
  • Guanfacine may help with aggression and self-injury.
  • Anxiety is a concern with PWS, but it’s important to be careful when treating anxiety with medications because they can cause an imbalance of dopamine in the brain, which can be “activating” and lead to worse behavioral outbursts. 

20:54 Magical Thinking and Psychosis

  • Magical thinking and psychosis is reported in all subtypes of PWS, but particularly with the uniparental disomy subtype. 
  • Often it starts with an event that's rooted in reality, but the event gets sensationalized or changed in the mind of the individual with PWS.
  • Difficulty in distinguishing fiction from reality can lead to unsafe choices. 
  • Some medications work well, including Risperdal, Topiramate, and Lithium. 

22:38 Skin Picking

  • Skin picking is very common. 
    • It’s a good idea to keep a diary of when it occurs because it is often related to environmental triggers, such as anxiety or boredom. 
    • Functional behavioral assessments can identify the triggers that may occur at school. 
  • The main treatment is eliminating the trigger, but other things can help or worsen the situation:
    • Fidget spinners can be used to provide distraction.
    • Balms or oils on the skin can make it harder to gain traction. 
    • Band-aids tend to become an obsession and make the skin picking worse.

24:11 Nutritional Phases in PWS

  • From 0 to 9 months, the child has a lack of interest in feeding. From 9 to 25 months, the child feeds appropriately. From 25 months to 4.5 years, weight increases but there is not a change in appetite. From 4.5 years to 8 years, both weight and appetite increase. From 8 years to adulthood, hyperphagia begins. 
  • Hyperphagia is an abnormally increased appetite. Individuals with PWS report feeling full, but they are not able to stop eating because food is always on their mind. 
  • Restricting access through locking can help because it both reduces their access to food and the anxiety they feel about the obsession. 

27:07 Nutritional principles

  • Picture schedules that include eating are very important. 
  • Eliminate added sugars, decrease portion sizes, add a lean protein to every meal, follow a low glycemic index diet, and count calories. 
  • The guiding principle in every age group is a balanced diet with fruits, vegetables, and grains. 
  • Snacks are important and should provide protein, fat, and a non-starchy, low-glycemic-index carbohydrate. 
  • Encourage drinking water by offering flavored waters, adding frozen fruits and vegetables, making sure the water is cold, giving a glass before every meal, and providing rewards.  

31.28 Growth Hormone and Sex Hormones

  • Growth hormone is the most clear standard of care in PWS. It’s FDA approved and should be given throughout life, with appropriate changes in dose. 
  • Its benefits include improved verbal IQ and composite IQ, improved lean muscle mass and body composition, and improved muscle tone.
  • There was concern that growth hormone could cause tonsil enlargement and breathing disorders during sleep. However, many studies have now shown that it does not have that effect long term. 
  • The main contraindications for growth hormone treatment are uncontrolled diabetes and very severe obesity. 
  • Hormone replacement therapy for girls is important for bone health.
  • Testosterone is recommended for males because it can be helpful for confidence. 

34:43 Other Conditions

  • Gastroesophageal reflux is present in 90% of individuals with PWS. Standard treatments are used. 
  • Constipation is a major problem in PWS. Early treatment is recommended with natural supplements, such as MCT oil, magnesium, and Senna. 
  • Gastroparesis, a condition that affects how quickly food is emptied from the stomach, can also be common. It causes the belly to balloon outwards with gas. Small frequent meals, eating soft foods, eating solids earlier in the day, and chewing foods thoroughly can help. 

37:22 Supplements

  • Only introduce one at a time and give it a two-week trial before adding another. 
  • There are a lot of supplements, but there is not a lot of evidence about their efficacy. 
    • Coenzyme Q10 may be helpful for the production of energy, stamina, and psychomotor development. 
    • Levocarnitine may be helpful for daytime energy and alertness. 
    • MCT oil may reduce appetite. 
    • B-vitamins may help with cognitive difficulties, fatigue, and problems with balance. 
    • DHA may improve reading and help regulate psychiatric disorders.
    • N-acetyl cysteine may be helpful in preventing skin picking on a short-term basis. 
    • Multivitamins are important.  

43:23 Sleep Disorders

  • Up to 80% of individuals with PWS have excessive daytime sleepiness. It can manifest as increased nocturnal sleep, behavioral problems, and changes in performance at school.
  • Arousal disorders are also common. Individuals with PWS do not respond appropriately to changes in oxygen or carbon dioxide levels. 
  • Sleep-disordered breathing is very prevalent, including obstructive sleep apnea and sleep-related hypoxia.
  • Narcolepsy and cataplexy are very common with PWS. Features include cognitive impairment, depression, eating disorders, ADHD-like symptoms, anxiety, Schizophrenia-like symptoms, and REM sleep behavior disorder.

46:38 Sleep Disorder Management 

  • Gather data from the NICU or have a sleep study performed early, so your child can get started as soon as possible with growth hormone treatment. A repeat study will also have to be performed in 8 to 10 weeks. 
  • Determine whether the sleep disturbance is being caused by obstructive sleep apnea or central sleep apnea and then explore treatments, which could include medications, oxygen therapy, or surgical options. 
  • Sleep apnea can lead to irritability, behavioral concerns, and heart problems. 

49:36 Other Treatment Considerations

  • Regular X-rays should be done to check for scoliosis. 
  • Studies about oxytocin have had variable results, but some families feel like it helps with social behavior. 

50:55 The Future

  • The future is exciting for PWS. 
    • There are many medications in clinical trials. 
    • The DCCR trial looks very promising.
    • Some data has been gathered about Pitolisant. 
    • Many companies are interested in doing more studies. 

51:25 Q & A 

FPWR Enewsletter


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 future of PWS. Inspired by her first FPWR conference and the team of researchers that were working to find answers for the syndrome, she joined the FPWR team in 2010 and led the development of the One SMALL Step walk program. Under Susan’s leadership, over $15 million has been raised for PWS related research.