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Standards of Care for Children Ages 0-2 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 ages 0-2 with PWS.

In this 1-hour video, Dr. Jessica Duis, Clinical Geneticist from  Children's Hospital Colorado explains standards of care for children ages 0-2 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

1:24 Dr. Jessica Duis presents

Standards of Care for Children with PWS Ages 0 to 2 Years

  • Overview of the topics to be covered: discuss evidence-based care recommendations for individuals with PWS ages 0-2, provide information on treatments supported by experiential data, discuss the features of PWS at this age and treatments, provide resources to empower you to educate your child’s providers. 

2:13 Prader-Willi Diagnosis and Molecular Basis

  • PWS often starts with symptoms of low muscle tone and feeding difficulties in the infant period. The child is often placed in a neonatal intensive care unit where augmentative ways of feeding can be administered. 
  • The molecular basis of Chromosome 15 is complicated and unique.
    • Some genes in Chromosome 15 are only turned on from the paternal copy. They are the blue genes in the PWS critical region. 
    • Other genes are only turned on from the maternal copy. They are the AS genes.
    • Other genes are turned on from both the paternal and maternal copies. 
    • Most individuals have a Type 1 deletion, in which they have a deletion from Breakpoint 1 to Breakpoint 3. Some individuals have a Type 2 deletion, in which they have a deletion from Breakpoint 2 to Breakpoint 3. 
  • The PWS Testing Algorithm is as follows. 
    • The best test for diagnosis is a DNA Methylation Test, which will examine what genes are turned on in the maternal and paternal copies. The test detects 99% of cases.
    • A chromosomal microarray test will detect small, missing, or extra parts or pieces of chromosomes. This test also detects uniparental isodisomy, in which two maternal copies of Chromosome 15 have been inherited, resulting in absent expression from the paternal copy. 
    • Additional uniparental disomy studies and testing that looks at the imprinting centers, which control how genes are turned off and on, may be needed in some cases. 

6:13 What to Do After Diagnosis?  

  • Give yourself some time. 
  • Support yourself and your family as a unit. 
  • Avoid reading on Google. 
  • Wait to gather information until you are ready. 
  • Facebook can be a great resource, but be careful. It can be overwhelming and upsetting.
  • There is no single right answer. 
  • Keep reminding yourself what a warrior and fighter your child is. They will teach you to find strength. 
  • Your child will still want to participate in organized activities and it is your job to love them and support them as they do so. 
  • You will have good days and bad days. Never lose hope. Many reasons exist to be excited about the future for individuals with PWS. 

8:14 Important Care Concepts

  • Important concepts to think about when taking care of kids with PWS in the 0 to 2 age range include skin to skin contact, physical exams, feeding and nutrition, therapies, oxytocin, and self care. 
  • Skin to skin contact is important. Your baby may seem sleepy or non-interactive, but it’s important to enjoy bonding moments.
  • Physical exams are necessary. Findings include undescended testes and developmental dysplasia of the hip.
    • About 70% of males with PWS have at least one undescended testicle. Doctors have differing opinions about the use of human growth hormone (HCG) as a treatment, but there is some medical evidence that HCG can help stabilize and enlarge the scrotum prior to surgical intervention. 
    • Developmental dysplasia of the hip is very common in individuals with PWS. It is strongly recommended that all infants with PWS, and especially those born breech, receive a hip ultrasound at 6 weeks. Treatments are controversial, but can include a Pavlik harness and surgery. 
    • Acetabular dysplasia is also common. Orthopedic surgeons recommend different courses of action. 

12:17 Feeding and Nutrition

  • Feeding difficulties occur in 99% of infants with PWS so it’s important to do everything you can to make your baby comfortable. 
    • Feed unclothed, provide stimuli to keep your child awake, try different feeding positions, and try different bottles. 
    • The side-lying position is the most successful for breastfeeding and the safest for bottle feeding. Support the head at the neck and hold the bottle at an angle. 
    • Work with a feeding specialist to find what works best for your child.
    • Pace feeding by offering breaks. 
  • Aspiration is common with PWS. Swallow dysfunction can result in leftovers in the mouth that result in aspiration. The aspiration can be silent, meaning there are no signs while you are feeding the infant that they are aspirating. 
  • Monitoring nipple flow rate is helpful. The slower the flow the better. 
  • Many bottle options are available. Dr. Brown’s Feeding System is the bottle that is most often used. It has a valve that helps control flow. 
  • Nasogastric (NG) tube feeding is also common. It is recommended that parents receive training on how to use an NG tube. 

20:15 Weight Gain and Eating

  • Monitor your infant’s weight gain. Age does not determine where your child should be on the growth curve. Instead, look for a pattern of growth from day to day in your individual child. 
  • Gastroesophageal reflux is present in 90% of individuals with PWS. To help prevent reflux, feed your child in an upright position or side-lying position and keep them upright for 30 minutes after feeding. Standard reflux therapies may also be needed. 
  • A Nissen fundoplication, a surgical intervention for reflux, is not recommended for individuals with PWS. It can cause difficulty swallowing and food aversions.
  • Introduce solids when your child has good head control or is able to have good head control in a supportive chair. Wait three days to a week before introducing new foods because allergies are common. 
  • Avoid added sugars. 
  • Learning to drink from a straw is important because it can help with oral muscle tone. The Honey Bear Cup is a good choice because it helps kids learn how to use a straw. Weighted straws are also helpful. 
  • Introducing fluids, in particular water, very early is advised. Do not use juice because of the added sugars. 
  • Start solids once your child has mastered purees. Focus on adding nutritious and low glycemic index carbohydrates that won’t cause blood sugar levels to rise quickly. Lean proteins and healthy fats are also important. 

25:21 Supplements

  • Introduce only one supplement at a time. Try it for two weeks and evaluate if you see any benefit. There is not a lot of data about the efficacy of supplements. 
  • Coenzyme Q10 may support mitochondria, the energy producers in the factory of the cell. It may also improve sucking duration and daytime energy levels. Be careful to use a Coenzyme Q10 preparation that does not have added sugar.
  • Levocarnitine may help with stamina, energy, and alertness. Some reports indicate decreased carnitine levels in individuals with PWS.  
  • MCT Oil may reduce appetite and food intake. 
  • B Vitamins are challenging because individuals with PWS have high levels of B12, which may indicate that their bodies do not use B12 efficiently. Symptoms of B12 deficiency or the inability to use B12 include cognitive difficulties, fatigue, and problems with balance. While these are seen in PWS, there is no evidence suggesting people with PWS should take B12.
  • Low DHA negatively affects childhood neurodevelopment in some conditions, such as autism. No specific data is available for PWS, but DHA supplementation may be worth trying with children who have neurodevelopmental disabilities or are under performing. 
  • Multivitamins are helpful. 
    • Any infant receiving breast milk should take Vitamin D.
    • NovaFerrum pediatric drops are a good multivitamin with iron.
    • NanoVM is a ketogenic friendly option and does not have added sugars. 
  • Some recent studies and literature suggest prebiotics and probiotics might be helpful, although it’s not clear what biotic preparations are best. 

31:59 Early Intervention and Therapy

  • Early intervention and the use of therapies are extremely important. 
  • Set up a feeding consultation immediately after diagnosis. 
  • Many states only offer developmental therapy at the start, but there are other helpful therapies that should be started early. 
  • Start physical therapy at around 3 months. 
  • Start occupational therapy at 4 to 6 months to help with fine motor skills and sensory processing. 
  • Start speech therapy at 6 to 9 months because many individuals with PWS have a problem with the motor production of speech. 

33:44 Behavior

  • Behaviors in the 0 to 2 age are typical of the age. 
  • Teach the same values and lessons as you would for any child, and have the same expectations as you would for any child. 
  • Stubbornness and rigidity in interests may arise early. To offset it, make sure to provide praise and rewards for good behavior. 
  • Ensure your child has opportunities for social interaction and provide activities. 

34:59 Growth Hormone

  • Growth hormone is the only FDA-approved therapy for individuals with PWS and it should start in the NICU. 
  • Starting early helps with muscle tone and feeding and may have a positive cognitive impact. 
  • The data is varied about any relationship between growth hormone treatment and sleep disorder breathing, but most studies have found growth hormone treatment to be safe. However, it is important to work with a sleep specialist and monitor any enlargement of the tonsils.

36:10 Sleep Disorders

  • Sleep disorders are common. A sleep study or data from the NICU is needed before starting growth hormone treatment and the FDA recommends that a second sleep study is done 8 to 10 weeks after treatment begins.
  • Obstructive sleep apnea is common, even in the infant period. Some data suggests a drug-induced sleep endoscopy should be performed to see what your child’s airways look like when asleep. 
  • While the right decision varies by patient, in general Dr. Duis does not think patients should stop taking growth hormone if sleep apnea is noted. Since growth hormone helps with muscle tone, in the long term it will help with sleep apnea.  
  • Central sleep apnea, a disorder in which breathing repeatedly stops and starts during sleep, is often found in infants with PWS. Oxygen is the most effective treatment.
  • Narcolepsy and cataplexy are also common in the 0 to 2 age range. 
    • One of the early signs is when your child starts to fall asleep while they are eating. 
    • Individuals with PWS do not usually meet all of the criteria for diagnosis of narcolepsy and cataplexy, but they do present with many of its features, which include depression, anxiety, cognitive impairment, eating disorders, ADHD-like symptoms, Schizophrenia-like symptoms, and REM sleep behavior disorder. 

39:30 Other Treatment Considerations

  • X-rays should be done once a year to monitor for scoliosis. 
  • Constipation is common and treatment with natural supplements, such as MCT and magnesium, is recommended. 
  • Allergies are also common and testing may be required. 
  • Children with PWS have very thick saliva so dental visits are recommended every 3 months starting at age 1. 

40:36 Oxytocin Treatment

  • There is a lot of interest in oxytocin treatment. A study from 1995 found oxytocin-expressing neurons in the hypothalamus are decreased in individuals with PWS. 
  • Some data also suggests oxytocin may improve the oral sucking of infants with PWS and decrease the risk of aspiration.
  • A published study also shows that Carbotocin® may impact anxiety and hyperphagia.
  • Oxytocin appears to be safe, but families should talk with their doctors about its risks and potential benefits. Early studies using doses of 40 international units per day have found it may increase aggressive behavior, especially in adolescents. 

42:23 The Future

  • Our goal is to create resources for the clinical management of PWS so care can be standardized and administered close to home. 
  • The future for PWS is very exciting. 
    • Data is being released about new treatments, such as DCCR and Pitolisant.
    • More than 10 drugs are in phase one to three clinical trials.
    • Many companies also have drugs in preclinical development. 

43:42 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.