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Standards of Care for People with PWS Ages 3-9 [2023 Conference Video]

In this video, Dr. Parisa Salehi, a Pediatric Endocrinologist at Seattle Children’s and SCH PWS Clinical Director, discusses standards of care for people with PWS ages 3-9.

In this one-hour and 2‑minute video, Dr. Parisa Salehi, a Pediatric Endocrinologist at Seattle Children’s and SCH PWS Clinical Director, discusses standards of care for people with PWS ages 3-9.  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

00:10 Dr. Parisa Salehi presents PWS Standards of Care, Ages 3-9

0:40 What To Expect

  • We’re going to be discussing what to expect, what to screen for, what doctors or providers to see, and what you can do for your child to advocate for them if you have a child between 3 and 9 years old.
  • What to expect: Possible disorders of 
    • nutrition/swallowing
    • Endocrine
    • Sleep
    • Ophthalmology
    • Dental
    • Orthopedic
    • Gastroenterology
    • Neurologic
    • Development/Behavior

2:20 Nutritional Phases

  • In Utero: decreased fetal movement, growth restriction compared to unaffected siblings
  • Phase 1a: 0-15 months: hypotonic infant, poor appetite and feeding
  • Phase 1b: 5-15 months: normal feeding and appetite, normal growth and weight gain
  • Phase 2a: 2.1-4.5 years: weight gain without hyperphagia, decrease in resting energy expenditure leads to weight gain unless calories are restricted
  • Phase 3: ages 8-adulthood: hyperphagia, food seeking, decreased satiety
  • Phase 4: adulthood: some adults can feel full

5:33 Growth Charts

  • Examples showing children with PWS tracking a normal weight curve until about 24 months, then between 24 and 30 months, an increase in percentiles of weight,
  • Important to track and see doctors frequently to monitor growth and development to catch this early.
  • Phases are fairly consistent, but it’s important to monitor.

7:25 Pathways of Satiety

  • It’s complicated the way the body manages appetite and how full we get.
  • What we do know from PWS research is that kids with PWS have delayed satiety.
  • That means it takes more, and takes longer, for them to feel full.
  • The areas in the brain that control how good you feel about something, your reward areas, light up more for kids with PWS than for individuals without PWS. 
  • People with PWS have decreased inhibition so those areas of the brain that tell them it’s time to stop eating don’t light up like they should.
  • Unfortunately, there is no medication approved by the FDA to manage hyperphagia, but some promising data is emerging.

9:24 Nutrition

  • No effective FDA-approved medical therapy for hyperphagia.
  • When she started in the field, there weren’t any trials going on, but now there are multiple trials. 
  • Eventually, there will be more tools.
  • Current management of nutrition includes behavioral modifications, dietary control, and exercise.
  • It’s hard work for caregivers, but it’s all we have right now to keep them safe.
  • This includes consistent schedules, rules, and restricted access to food.
  • Our kids love schedules and they are really good at following rules, so consistency is very important —even before hyperphagia starts.
  • Knowing expectations decreases food anxiety.
  • If they’re not wondering when the food is coming, they have less anxiety.
  • Locking up food means they know they can’t get to it and won’t try to find it.
  • It doesn’t always work, because kids are smart about how to get food, but if that cabinet, pantry, fridge is always locked, there’s never going to be food out to tempt them.
  • No doubt+no hope (no chance) =no disappointment
  • Similarly, if you make a promise that involves food or a snack, you have to stick to it so they trust you. 
  • In phase 2, when the weight goes up, it’s important to work with a dietician who knows PWS. Once that weight goes up, we need to start decreasing calories. 
  • Kids with PWS typically need 60-80% of what somebody without PWS needs, so don’t be shocked by how many calories they are restricted to; it’s what they need to grow and function and have enough energy.
  • As long as someone is growing properly on that growth chart, following the weight and height percentiles, that’s enough food.
  • We don’t want them to not grow properly or not gain enough weight, but it’s important to not have them become overweight or have elevated BMI.
  • Kids can sometimes be picky about what they want to eat, but 20 grams of fiber is really important for pooping, which we’re going to be talking about later.
  • We want to monitor nutrient level because some studies show that restricted diets might give less access to important nutrients.
  • Monitor calcium, vitamin D, and iron levels.
  • Also look at how much protein, fat, and carbohydrates are in your meals.
  • Study at University of Florida found that a diet that has less carbohydrates, a bit more protein, and a bit more fat for kids with PWS tended to make them feel a bit more full than a typical diet.
  • Note: it’s not zero carbs. We need carbs for growth and brain development and energy.

16:26 Endocrine System

  • The area of the brain called the hypothalamus in the pituitary gland. It’s smack dab in the center, and it’s the control center for a lot of important things: hormones, breathing, and appetite.
  • In PWS, that area of the brain is different based on that difference in chromosome 15, which is important in the development of that area. 

17:36 Endocrine Growth Hormone

  • In PWS, the pituitary gland makes less hormone compared to the rest of the population.
  • When the FDA approved growth hormone for PWS they did not require growth hormone stimulation testing, which is required in most other situations.
  • If you don’t treat with growth hormone, people with PWS will have short stature, compared to other family members.
  • Growth hormone treatment has been approved since 2000, so we’ve been using it for 23 years, and we know that there are benefits to using it as early as possible, possibly starting in infancy.
  • GH improves body composition, meaning fat and muscle distribution and BMI. It helps people get taller and also increases lean muscle mass, which is really important for doing things that are physical..
  • Helps improve energy and metabolism, and if started in early infancy it improves cognitive functioning, or IQ level.
  • Controversies around growth hormone: 
    • Increased risk of death?: 64 cases of sudden death in infants and children with PWS
    • 28/64 cases were on growth hormone
    • 74% of GH cases death occurred within 9 months of starting GH
    • Respiratory illness was the most common cause of death (61%)
    • No statistical difference shown between GH-treated and untreated group in regard to gender, sleep apnea, obesity prevalence, or cause of death. Hypotheses: Obstructive sleep apnea due to adenotonsillar hypertrophy? Adrenal crisis precipitated by increased peripheral metabolism of cortisol.
  • Scoliosis: No relationships between GH treatment and scoliosis severity.
  • Overall, the benefits outweigh the risks.
  • What are the steps an endocrinologist should be taking? 
    • Initial labs
    • Bone age test
    • Scoliosis evaluation
    • Sleep apnea evaluation
      • Refer to pulmonology and or ENT
      • Sleep study/Polysomnography (PSG)
        • Prior to starting GH
        • Repeat 6-10 weeks after starting GH
        • Consider repeating at 1 year and as needed

15:11 Endocrine-Growth Hormone

  • Dose: 
    • Start at 0.5 mg/m2/day
    • Maximum: 1 mg/m2/day
    • Adjust every 3-6 months

25:44 Endocrine-Puberty

  • The most common endocrine problem in PWS after growth hormone is abnormal puberty.
  • Some people never go through puberty, others have delayed puberty, or it can mean disordered or early pubertal development.
    • Males: 80-90% undescended testes, 70% small testes, 69% underdeveloped scrotum
    • Females: 69% underdeveloped labia/clitoris, 76% no periods, 44% abnormal periods
  • Early pubertal can happen in girls under 8 and boys under 9.
    • Signs: early pubertal hair: 15-20%
    • Early true puberty (aka central precocious puberty): 4%
    • Not surprising to see a 6-year-old with some pubic hair.
    • If you notice breast buds or enlarged testes, definitely bring it up to your endocrinologist.

29:00 Hypothyroidism

  • Seen in 20-30% of people with PWS.
  • Thyroid problems in PWS stem from the control of the thyroid from the pituitary gland and the hypothalamus.
  • This area of the brain tells the thyroid gland how much thyroid hormone to make, so if this part of the brain is not functioning properly then the thyroid gland is not getting enough signal to make enough hormones.
  • Average age of diagnosis is around 2 years old. 
  • Symptoms: low energy, low metabolism, constipation, dry skin, poor growth.
  • Consensus guidelines say to monitor thyroid with yearly labs to catch, manage, and treat.

30:00 Endocrine: Adrenal Insufficiency

  • Studies show mixed results about adrenal insufficiency.
  • It may be rare in the PWS population, depending on who does the study and where they do the study.
  • Definitely a rare occurrence in her clinic.
  • Adrenal hormones are important. They live on top of the kidney but are controlled in the area of the brain we’ve been talking about. It makes a hormone called cortisol.
  • Cortisol is the hormone that goes up when your body is in stress, so the point of this is to help your body fight stress by increasing blood flow, blood pressure. 
  • If you don’t have enough cortisol, all those mechanisms to help fight that stress don’t work, so you can become very ill or it can become life threatening.
  • It’s important to screen for it.

32:15 Endocrine: Glucose Problems

  • A study out of France looked at children with PWS and found that they noticed that 4% of them had abnormal, or impaired, blood glucose.
  • We know that having a higher weight or BMI is associated with developing higher blood sugars and eventually type 2 diabetes.
  • Recommends screening blood sugars with fasting labs and hemoglobin A1C once a year. That’s a 3-month average of blood sugars and you don’t have to be fasting.

33:00 Sleep

  • Children with PWS have both central and obstructive sleep apnea.
    • Central: 40% infants, 5% older children
    • OSA: seen in up to 80% of individuals
    • Sleep differences in PWS: reduced time falling into REM/dream sleep, longer time in REM, shorter time in deep sleep
    • Abnormal sleep patterns
    • Lower oxygen when sleeping
    • Excessive daytime sleepiness
  • Poor sleep can affect lots of things: energy, wakefulness, concentration, mood, engagement, behaviors.
  • Untreated sleep apnea can put pressure on the heart and the system of the heart, blood pressure, and increase risk for diabetes.
  • Important to monitor symptoms, so if you hear your kids snoring and if the snoring has pauses, bring it up with your doctor.
  • Recommend regular sleep studies: every six months or year.
  • Treatments vary. There are medical treatments like removing big tonsils or adenoids, or fixing a floppy airway.
  • CPAP forces air into the body so you breathe regularly.
  • There are medications for excessive daytime sleepiness.

37:25 Gastroenterology

  • Constipation is frequent.
  • The Bristol Stool Form Scale rates poop from 1-7.
  • It’s important to watch the toilet and monitor poop.
  • About half the kids that come to the clinic are constipated, but only 2% of parents think their kids are constipated.
  • Constipation causes pain. 
  • Perfect storm: low fiber, low fluid, low tone, slow transit.
  • Distension, pain, rumination, rectal picking.
  • Soiling accidents are not necessarily diarrhea. Treat constipation and do a bowel cleanout.
  • Treatment: “mushers and pushers.” 
    • Mushers bring fluid into poop.
    • Pusher is a stimulant that makes bowels squeeze.
    • Important to work with somebody who is aware of these medications and can talk to your family about what is going on with the toilet situation and prescribe mushers and pushers.
    • She loves Senna, and it works about 10 hours after you give it so give it at bedtime and have some quality toilet time in the morning.

41:46 Swallow Issues

  • Dysphagia (or abnormal swallow) is seen in all ages.
  • It’s discussed more in birth-2 segment, but we also see it it older kids.
  • Silent aspiration is when food gets into airway or lungs.
  • Can cause damage or pneumonia.
  • Can be seen in infants or toddlers.
  • Laryngomalacia (floppy airway) is a problem kids are born with and may lead to sleep apnea and dysphagia.
    • When you take a deep breath, the pressure from the chest collapses the airway and that can cause obstruction to the flow of air.
    • Important to do swallow and feeding evaluations to evaluate for issues.

43:09 Orthopedics

  • Scoliosis, or curvature of the spine, is very common, occurs in 40-80% of people with PWS.
  • No evidence of growth hormone affecting scoliosis.
  • Monitor for scoliosis starting at 1-2 years of age, around the time that kids can kind of sit up stably or hold themselves up.
  • Monitor every 1-2 years based on what the initial evaluation looks like. 
  • If it’s abnormal, if there’s a curve, or the curve is getting worse, we want to refer you to an orthopedic specialist or spine specialist early because early intervention is really important, for example a back brace and monitoring it carefully. 
  • Scoliosis can affect lung capacity and breathing, so it should be monitored closely. 

44:19 Dental

  • Kids with PWS get lots of cavities; part of it is abnormal enamel and thick saliva.
  • Find a good pediatric dentist. Early and frequent dental checks are critical because kids with PWS need more frequent dental cleanings 

44:45 Ophthalmology

  • There are a number of eye concerns that happen in PWS:
    • Strabismus (crossing of eyes)
    • Myopia/hyperopia (nearsighted/farsighted)
    • Cataracts (clouding of lens)
    • Nystagmus (abnormal eye movements)
  • If we notice any of these issues, we send kids to eye doctor early because the problems can affect depth perception and peripheral vision if not corrected.

45: 30 Neurology

  • Seizures are actually pretty frequent in PWS, and not just seizures but abnormalities in EEG.
    • Febrile (fever) seizures in 6.4-39.2 of children with PWS
    • Epilepsy: 4-26%
    • Variable and high rates of abnormal EEGs with or without epilepsy: 12-100%
    • EEG abnormalities may improve with age
  • Important to have a full evaluation done with full EEG.

46:32 Behavior

  • Children with PWS show differences in behavior from typical children:
    • Temper tantrums
    • Stubbornness
    • Controlling and manipulative behavior
    • Compulsivity
    • Difficulty with changes in routine: 7–90% by early childhood
    • Self-mutilation/skin-picking
    • Autistic characteristics
    • ADHD
    • Psychosis seen in 10-20% by young adulthood
    • Catatonia
  • If you do start seeing behavioral characteristics, get the support you need from behavioral specialists to start doing behavioral modification or interventions early. 
  • Recommend early socialization; spending time with peers is better than isolation.
  • Routines are important for food security and anxiety reduction.
  • When behavior becomes more challenging, you have a baseline tools. 
  • Working with a behavioral specialist like a developmental pediatrician, psychiatrist, or psychologist is important.
  • If there is a lot of overlap with autism spectrum, there are interventions that are specific for that like applied behavioral analysis (ABA). 
  • Don’t be afraid of these diagnoses; having a diagnosis can help you get help.

49:16 Development/School

  • Developmental delay starts early; our children have lower IQ scores and can have learning disabilities.
  • You want early intervention services, starting in infancy and continuing
    • PT, OT, speech therapy; always take whatever they offer.
    • Hippotherapy (working with horses), aquatic, and other therapies are also beneficial.
  • Work with schools and teachers to develop an individualized education plan (IEP). You want to advocate for them. Not every IEP has the same supports.
  • Advocate for the school to lock up food, or for an aide to walk them to the bathroom; these are things that your kids deserve and you should advocate for.
  • Bring an advocate with you; we have advocates that can be a third person to help your child get the support they need.

51: 25 Closing and Q&A

  • It doesn’t take just a village to take care of a child with PWS; it takes a whole metropolitan city.
  • It’s really complex and requires a multidisciplinary approach.

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Topics: ages: 4-7, Parents, Children 3-6