Diabetes and Prader-Willi Syndrome

Jenna Farrow

Dayton Children’s Hospital

General Disease Research

Etiology

Prader-Willi Syndrome (PWS) is a rare genetic condition that results from a paternal

deletion on the 15th chromosome. PWS occurs in approximately one in every 10-30,000 births,

with equal distribution between males and females (Grugni et al., 2016). There may be an error

or defect on the 15th chromosome, the genes on chromosome 15 may be deleted, or the child

inherited two copies of chromosome 15 from the mother and none from the father (Gutierrez &

Medez, 2022). A defect on chromosome 15 disrupts the release of hormones from the

hypothalamus. This imbalance of hormones interferes with bodily functions and growth such as

sexual development, mood, sleep, and hunger (Heksch et al., 2017).

Pathology and Characteristic Symptoms

PWS manifests in phases where symptoms change over time. A key characteristic of

PWS is an insatiable appetite and constant feeling of hunger, starting at about age two (Miller et

al., 2014). Infants born with PWS often have hypotonia with poor suck, leading to slow weight

gain, and often, a diagnosis of failure to thrive. Infants born with PWS will often require a higher

calorie formula to meet their growth needs (Miller et al., 2011). Sometimes a nasogastric feeding

tube is required in infants, particularly those born prematurely with hypotonia and feeding

difficulties (Miller et al., 2011). In early childhood, hypotonia persists; the child may begin to

show signs of developmental delay, and short stature becomes more apparent (Miller et al.,

2011). Once the child enters school, there may be further signs of global developmental delay

(GDD), and hyperphagia usually begins at this age (Miller et al., 2011). Children begin to obsess

over food, and if uncontrolled, can quickly become obese. In adolescence, hyperphagia
continues, and behavioral issues may present themselves as obsessive-compulsive features like

skin picking, throwing temper tantrums, or having outbursts at school or social settings (Butler et

al., 2019). These behavioral disorders increase difficulty of controlling food intake and weight,

and patients typically gain weight rapidly during this period (Clerc et al., 2021). Most people

born with PWS are sterile; there is only one documented report of a woman with PWS becoming

pregnant (Åkefeldt et al., 1999).

Individuals with PWS often struggle to maintain oral health due to the variety of effects

on the mouth caused by PWS. Patients with PWS have dry mouth, thickened saliva and dental

caries caused by enamel hypoplasia (Bantim et al, 2019). The behavioral issues associated with

PWS make it difficult to complete routine dental check-ups. Sedation for oral treatment is highly

contraindicated due to obstructive sleep apnea, obesity and excess weight on the chest cavity

restricting respiration, and prolonged recovery after anesthesia (Ritwik & Vu, 2021). Dentists

also recommend oral rehydration solutions for patients with PWS, as chronic xerostomia can

lead to excess dental caries and is a requirement for treatment (Bantim et al, 2019). Dentists

recommend that frequency of dental care should be established based on risk for cavity

prevention and dental restoration.

Insatiable appetite is the hallmark symptom of PWS. It is believed hyperphagia is caused

by a “disruption in the hypothalamic pathways of satiety control,” but the mechanism is not well

understood (Muscogiuri et al., 2021). Brain scans have shown that there is higher reward

activity in the brain of a PWS patient before eating, and a reduced activity in the inhibition

centers of the brain after eating. Ghrelin (the hunger hormone) levels are also not suppressed

after eating compared to a child without PWS. This may partly explain the obsession with food
observed in children with PWS. Other signs of malfunction of the hypothalamus in PWS patients

include poor temperature regulation and increased tolerance to pain.

Sleep disorders, such as obstructive sleep apnea (OSA), narcolepsy, excessive daytime

sleepiness, and insomnia are common complications associated with PWS. Children with PWS

often have adenotonsillar hypertrophy, craniofacial abnormalities and neuromuscular weakness,

and obstructive sleep apnea is often discovered during a sleep study to evaluate the cause of

excessive daytime sleepiness (Butler et al., 2019). Severe obesity also increases the severity of

OSA (Heksch et al., 2017). It is recommended that children with PWS see a sleep specialist due

to the complexity and prevalence of sleep disorders in this population (Duis, et al. 2022).

Diagnosing and treating a sleep disorder in a child with PWS may help explain and improve a

child’s behavioral issues.

Obesity and its related complications and comorbidities are the most common causes of

mortality in individuals with PWS. Diabetes is a common comorbidity of PWS, with the average

age of diagnosis being 20 years (Clerc et al., 2021). Patients diagnosed early with diabetes

(T2DM) have higher rates of psychiatric troubles, metabolic disorders, and obesity (Muscogiuri

et al., 2021). Parental history of diabetes and increased BMI also increases the rates of diabetes

among PWS individuals, but less than 2% appear to be diagnosed before age 18 (Clerc et al.,

2021).

Men and women with PWS typically live to about age 30, but if weight is well controlled,

adults with PWS may live to their seventies (Butler et al., 2019). PWS patients with severe

obesity are at a higher risk for premature death caused by respiratory failure (Pacoricona Alfaro

et al., 2019). Choking related deaths can occur at an early age due to hyperphagia induced

choking (Miller & Tan, 2020). Hyperphagia in PWS can become so severe that children may
consume food (or non-food material) that is whole, frozen, uncooked, or spoiled, often rapidly

and without chewing, before getting caught. The individual may consume enough food to cause

gastric rupture if left unattended (Bellis et al., 2022).

Typical medical treatment

Treating PWS involves managing comorbidities that constitute the syndrome during the

patient’s entire life, not just childhood. These comorbidities, including hyperphagia, type 2

diabetes (T2DM), OSA, obesity, require strict protocols to be followed to successfully manage

these conditions. Treatment of T2DM in children with PWS is the same as treating the general

population (Clerc et al., 2021). Following a heart-healthy diet, such as the Mediterranean diet,

has been shown to decrease the risk of obesity, diabetes, and metabolic syndrome (Guasch‐Ferré

& Willett, 2021). A Mediterranean diet can be a healthy diet for the whole family, consisting of

lots of fruits and vegetables, whole grains, omega-3-rich foods like salmon and olive oil, and

limiting of processed foods and red meat. Making healthy food choices can make a positive

impact on weight, BMI, and blood glucose control (American Diabetes Association, 2016).

PWS is also known to cause growth hormone (GH) deficiency, and many children with

PWS undergo treatment of growth failure with growth hormone. GH therapy has been shown to

exert positive effects on individuals with PWS. GH deficiency is thought to occur in 40-100% of

patients with PWS, with the highest prevalence among the most obese. (Grugni et al., 2016).

Children with PWS often present with short stature by the age of one year, and GH deficiency

causes a lack of pubertal growth spurt (Irizarry et al., 2016). Growth hormone has been shown in

multiple studies to improve the phenotype of children and adults with PWS, even those that

didn’t initially have a deficiency (Clerc et al., 2021). Growth hormone treatment can increase

physical fitness, cognitive and motor development, and lean body mass (Grugni et al., 2016).
Growth hormone treatment, however, is not indicated in those with gastroesophageal reflux

disease (GERD), OSA, morbid obesity, and poor airway protection (Heksch et al., 2017). Signs

of excess GH include sleep apnea and snoring, edema, headaches, and worsening of scoliosis

(Grugni et al., 2016). It is recommended that patients with uncontrolled diabetes and/or severe

obesity be excluded from GH therapy (Grugni et al., 2016). Patients participating in GH therapy

must be supervised by an endocrinologist to monitor safety and efficacy of the treatment.

Children (and adults) with PWS need a great deal of support from a variety of providers

including clinical geneticists, endocrinologists, orthopedic specialists, mental health experts, and

dietitians to manage their disease and associated complications. Managing hyperphagia with

rigorous diet and exercise can help manage comorbidities children with PWS. Physical activity

is very important in preventing and treating obesity in a child with PWS. It helps reduce their

body mass index and improve physical performance. Children with PWS also have significantly

reduced muscle mass and lower muscle tone than their peers (Muscogiuri et al., 2021). They also

tend to demonstrate reduced stamina and exercise tolerance. It has been reported that children

with PWS tend to be reluctant to exercise, so it is important to make it a part of their daily

routine. (NCP) Participating in recreational activities that require physical activity are

recommended to distract the child from food. Families can obtain a prescribed plan that can be

updated as the child gets stronger, and adapted as the child ages. If the child is developmentally

delayed, a daily activity pattern with the family should be instituted based on the child's skill

level.

While there is no medication available to cure this genetic disorder, a variety of

medications are used to manage complications of PWS. Further, no single medication has yet

been able to successfully manage the food-seeking behaviors. Hyperphagia is one of the most
damaging symptoms of PWS, and children with this disease also need psychiatric and behavioral

health care. Children who are prone to obsessive compulsions such as skin picking often require

medication prescribed by a psychiatrist (Butler et al., 2019). Children may be placed on

psychotropic medications, mood stabilizers, and selective serotonin reuptake inhibitors (SSRIs)

to control depression, anxiety, and sometimes psychosis (Bonnot et al., 2015). Benzodiazepines

are not indicated due to their tendency to cause sedation, reduced mental alertness, and even

suppress respiration (Butler et al., 2019). ADHD medications and stimulants are also commonly

used to treat impulsivity and compulsions commonly seen in patients with PWS (Butler et al.,

2019).

Metformin is a common first-line drug used to manage blood glucose. However, it has

been shown that metformin alone is not enough to manage blood glucose in a diabetic with PWS

(Clerc, et al, 2021). Metformin has been observed to improve food-related stress and anxiety in

patients with PWS, but it doesn’t improve weight loss (Miller & Tan, 2020). Interestingly, in a

2014 study, improvements while taking Metformin were mostly seen in female participants

(Miller et al., 2014). Some males in the study had to discontinue metformin due to a “marked

deterioration in behavior” (Miller et al., 2014). Some patients (for the first time in their lives)

were able to describe a feeling of fullness while on Metformin. Other medications prescribed

may include insulin, GLP-1 antagonists (glucagon-like peptide 1), and SGLT-2 inhibitors (Butler

et al., 2019). GLP-1 drugs promote insulin production and secretion as blood sugar levels rise

after a meal, thereby lowering blood glucose (Ng et al., 2021). These drugs have shown

beneficial effects on weight, satiety, and glycemic control in PWS patients (Heksch et al., 2017) .

SGLT-2 inhibitors are drugs that, when combined with diet and lifestyle, can lower blood sugars

by causing the kidneys to pass sugar into the urine in patients with type 2 diabetics.
 Children with PWS have also been known to lie, steal food, run away from home or

school to steal or access food, cause property damage trying to access food, and display outbursts

of aggression towards teachers or care takers (Gourash & Foster, 2005). Food-seeking behaviors

also include eating non-food items like dog food, searching in garbage cans, and stealing money

to buy food. Establishing safe, controlled, and supervised food access can help decrease a child’s

anxiety around food (Goff, 2022).

Bariatric surgery is not indicated for patients with PWS, as there are a great deal of risks

involved. Anesthesia is particularly dangerous in patients with PWS due to their increased size,

risk of OSA, and prolonged recovery after surgery (Butler et al., 2019). A concern for

performing any surgery on a PWS patient is the concern that they might damage the surgical

wound via excessive skin picking. There also must be a complete psychiatric evaluation

performed to determine if the patient is mentally and physically able to comply with post-surgery

protocol (Bolling et al., 2019). Many patients are not considered for bariatric surgery due to these

limitations (Bolling et al., 2019). PWS patients require a great deal of multidisciplinary care at

baseline, and post-operation recovery would be an additional burden on the primary caregiver(s).

Bariatric surgery should only be considered as a last resort, when all other behavioral and

medicinal interventions have failed.

Prognosis

It is important to recognize that food is a major source of stress for individuals with PWS.

Professionals recommend establishing “food security” with the child to reduce the child’s stress,

anxiety, and behavioral issues surrounding food (Prader-Willi California Foundation). Food

security for patients with PWS is comprised of three defining pillars: 1. No Doubt, meaning there

is a clearly defined plan and schedule of what foods will be provided and when. 2. No Hope,
meaning there is no opportunity or chance for extra food. 3. No Disappointments, meaning if all

expectations are met and structure is maintained, the child will not get an opportunity to be

disappointed (Prader-Willi California Foundation). Experts note that disappointment is a major

source of behavior problems for this population, so managing expectations is crucial to providing

the PWS child with a sense of security (Goff, 2022).

The transition from childhood to adulthood is a particularly difficult time for patients

with PWS. Patients need coordination between members of their care team. Individuals with

PWS require structure implemented by caregivers to successfully manage the syndrome, and

they are not able to create structure in their lives on their own (Goff, 2022). Most adults with

PWS are unable to live by themselves, and many may choose to move into group homes to

maintain daily structure and routine. These homes can also teach patients life skills, help them

find a job, and improve quality of life.

Prevention

Obesity is the main complication associated with PWS. Preventing and/or managing

obesity in the setting of PWS begins with a strict low-calorie and well-balanced diet, regular

exercise, and close supervision around food (Gourash & Foster, 2005). Many families choose to

lock their cupboards and refrigerator/freezers to keep determined children out. The family may

also need to work with the school to adjust portions of breakfast and lunch to align with the

child’s daily caloric goal.

Intervention to control food-seeking behavior associated with PWS is necessary to

control weight in school age years (Gourash & Foster, 2005). Excessive weight gain is common
in this population at this age, and it is imperative to prevent weight gain, which may lead to other

diagnoses, such as diabetes. The sooner the intervention begins, the better weight is controlled.

Type 2 diabetes mellitus (T2DM) is characterized by insulin resistance. Diabetes can be

prevented with a healthy lifestyle that includes increased fruit and vegetable intake, regular

exercise, and limiting sugary foods and beverages (American Diabetes Association, 2016).

Regular exercise is also important for obtaining and maintaining insulin sensitivity. At the time

of diagnosis of T2DM, it is recommended that patients be screened for microvascular

complications like retinopathy and neuropathy annually (Clerc et al., 2021). A paper published

by the Department of Endocrinology at Nationwide Children’s Hospital recommends testing the

child’s hemoglobin A1C and lipid profile at the onset of puberty, and annual screening in obese

patients (Heksch et al., 2017). Treatment of diabetes in a patient with PWS is centered on

glycemic control, weight control, and patient quality of life.

Psychological counseling is necessary for the PWS child who struggles with behavioral

issues. Patients with PWS should be involved in a behavioral program that involves teachers,

parents, and family in order to best adhere to their treatment plan (Goff, 2022). As part of the

Individuals with Disabilities Education Act, children with PWS are entitled to services such as

motor, education, speech, feeding, and nutrition. PWS children should have a 504 plan for PWS

related to hyperphagia. The best outcomes occur when communication between providers and

the medical team is prioritized (Passone et al., 2018).

Introduction

JF is a 11-year-old male of African descent with a primary diagnosis of Prader Willi

Syndrome. He is 4 feet 11 inches tall (143.5 cm) and weighs 289 lbs (131kg), giving him a BMI
of 58.42. JF is in the >99%ile for weight and BMI, and in the 70%ile for height. JF was chosen

for this study because he has a variety of diagnoses that affect his mental, physical, and

intellectual health. JF was admitted with other prior diagnoses of gastroesophageal reflux disease

(GERD), attention deficit hyperactivity disorder (ADHD), oppositional defiant disorder, anxiety,

hypotonia, obstructive sleep apnea, obsessive compulsive disorder (OCD) and global

developmental delay related to prematurity. When he was first admitted to the hospital on

1/19/23, he was diagnosed with diabetes. He was discharged on 1/21/19. He later returned to the

ED after an accidental insulin overdose on 2/7/23 and was admitted to the Pediatric Intensive

Care Unit. He was discharged shortly after on 2/8/23.

Social History

JF is in 6th grade and attends a local middle school. JF is a single child of separated

parents; his parents are divorced and share custody, but he spends most of his time with his

mother, who does all the cooking. JF does not live with any other children.

JF’s father and grandmother are employed at his school. JF did not follow closely with

this clinic, seeing providers approximately once or twice per year.

JF is mobile but moves with difficulty due to his large size. JF receives community

resource assistance from Children's Medical Handicap (CMH) for Prader-Willi Diagnosis. He

follows psychiatry at another facility and is connected with counseling resources at school.

JF has a history of behavioral issues at school. He has been reported to lash out at

teachers, verbally and physically. His mother was feeling overwhelmed because the school was

calling her twice per week to take him home. His mother worried JF might be learning that

outbursts and misbehaving gets him out of school.

 His paternal grandmother has a history of T2DM, and his mother is overweight (Clerc et

al., 2021). This family history puts him at greater risk for developing these conditions. However,

due to his grandmother’s diagnosis, she was already familiar with how to count carbohydrates.

Normal Anatomy and Physiology of Applicable Body Functions

In a healthy individual, the pandcreas produces insulin after consumption of food. After

eating, the body begins to digest the food and release the glucose contained in the food into the

bloodstream. It is normal to have a rise and fall in blood sugar levels before and after eating, but

it shouldn’t be dramatic. Insulin can be desrcribed as a key that “unlocks” the door to the cell

wall and allow glucose to enter.

Type 1 diabetes is an autoimmune condition in which the body destroys its own beta

cells, which produce insulin. The body of an individual with this disease will require insulin

therapy for the duration of their life.

Type 2 diabetes is a disease linked to lifestyle changes that promote insulin resistance.

Consuming a diet high in saturated fat, cholesterol, sodium, added sugar, and low in fiber, fruits

and vegetables can increase the risk of developing T2DM. This disease is also linked to a

sedentary lifestyle, obesity, hypertension, and kidney disease. Those with a family history of

T2DM and it’s risk factors are also at increased risk.

As an obese individual develops T2DM, their blood vessels become lined and clotted

with a layer of fat. The insulin “key” is unable to “unlock” the cell door, so the pancreas releases

more insulin to compensate. There are drugs available to increase insulin sensitivity without

intravenous insulin therapy, but it may be required in some cases of T2DM. Having elevated
blood sugar levels can damage the blood vessels over time, and lead to hypertension and kidney

damage.

As previously discussed, hyperphagia and often obesity are characterisitic signs of PWS.

Being extremely obese and having a family history of T2DM put JF at increased risk of

developing the disease. Not all patients with PWS are obese or in danger of developing diabetes

or other comorbid conditions associated with obesity. Losing weight and achieving glycemic

control can help JF mitigate the dangerous effects of diabetes.

Past Medical History

JF had an urgent care visit in April of 2022 after he slipped and fell in shower, hitting his

head. His skull x-rays were normal and swelling subsided. His neurologic exam was reassuring

to the physician, and safety precautions were reviewed before discharge.

During the school year, JF also receives weekly speech and occupational therapy to work

on fine motor skills, and improve speech, language, and fluency skills.

Laboratory Findings

A work-up was completed on JF when he was admitted to the hospital with

hyperglycemia (excessively high blood sugar) and polyuria (frequent urination). This mother

reported 2 episodes of incontinence (bedwetting) 2 months prior to the admission. No ketones

were found in lab testing, indicating that his body is producing its own insulin. JF tested negative

for Islet Cell Antibodies, indicating his diabetes is not type one.

JF was not found to be in diabetic ketoacidosis (DKA) upon admission, even with initial

bloodwork showing a blood glucose of 426, and pH of 7.405. A diagnosis of DKA would require
blood glucose greater than 250 mg/dl, arterial pH less than 7.3, serum bicarbonate less than 15

mEq/l, and the presence of ketonemia (ketones in the blood) or ketonuria (ketones in the urine)

(Kitabchi et al., 2006). No ketones were found in JF’s blood or urine. During admission, blood

glucose values were taken every two hours. His blood glucose trended in the 200-300's during

admission, and his physician determined insulin was required to treat hyperglycemia. A blood

glucose level between 70 and 100 mg/dL (3.9 and 5.6 mmol/L) is considered normal.

His physician also noted that thyroid hormone panel labs were within normal limits. TSH

value was 1.04 with a reference range of 0.45 - 4.52 uIU/mL. Free thyroxine was 1.09 with a

reference range of 0.77 - 2.31 ng/dL. JF’s hemoglobin A1C was 10.1% and blood glucose was

>400 in the ER. After starting insulin therapy, his A1C dropped to 8.6% on January nineteenth.

An ideal hemoglobin A1C value is 4-6%. Elevated A1C levels are associated with increased risk

for diabetes (NIDDK, 2018).

Medications

JF’s medications prior to admission:

 Topamax: 75 mg 1 tablet by mouth twice a day for compulsive skin picking

 Intuniv 2 mg extended-release tablet by mouth every 2 hours for ADHD and anger

 Vyvanse 40 mg by mouth twice daily 1 capsule for ADHD, combined type

 Prozac 20 mg by mouth once a day for anxiety

Facility-Administered Medications:

 Metformin 500 mg extended-release tablet by mouth for blood glucose management

  Lantus insulin pen, 42 Units, subcutaneous injection every night at bedtime for blood

glucose management

 HUMALOG JR KWIKPEN injection, 0-20 Units, Subcutaneous injection, take Before

Meals 0-15 Units Overnight for blood glucose Correction

 pediatric multivitamin chewable tablet 1 Tablet by mouth daily

 omeprazole (PRILOSEC) capsule 40 mg by mouth daily for reflux

See Tables section for insulin dosing chart.

Physician instructed JF or parent to check blood glucose levels at 12am and 3am.

A few weeks after discharge, on February 7, JF returned to the hospital after attempting

to self-administer his insulin. Initially it was proposed this may have been a suicide attempt, but

after investigation it was found to be an accident. It was believed that JF was attempting to

administer his shot himself and injected the entirety of both the long-acting and short-acting

insulin pens. His father found him lying on the bed, both insulin pens open and empty sitting

nearby. JF was given 32oz of apple juice in the car on the way to the emergency room.

When JF arrived at the hospital, his blood glucose levels began dropping. He arrived with

a level of 130mg/dL and was given a drip of D5%. Then, as his blood sugar dropped further to

94 and 75 mg/dL, he was given a drip of D10%. It was noted by staff that JF was experiencing

intense fatigue and sleepiness as his numbers trended down. Finally, his blood glucose reached a

low of 59 mg/dL, and a bolus of D25% was given. After this, his level increased to 159 mg/dL.

Supplying dextrose intravenously helped increase JF’s blood sugars against the hypoglycemic

effects of insulin. Doctors ordered that his blood glucose level be monitored every 3 hours after
stabilizing. All insulin was stopped during this time, and after the initial correction JF’s blood

glucose levels trended in the 200’s.

Medical Treatment

JF was admitted to the hospital’s Endocrine service for new onset diabetes and to receive

diabetes education. While admitted, JF began receiving Metformin and insulin injections. He

was placed on Lantus as well as a Novolog sliding scale and Novolog carb correction. These

medications will be used long-term to manage his blood glucose. A Dexcom was attached to his

arm. This device monitors his blood sugar, and can send the information to his mother’s phone

every 15 minutes via an app. The clinicians also have access to his Dexcom reports and can

review his overall blood glucose control. JF will follow-up with his physician and dietitian in the

endocrine service

Medical Nutrition Therapy

According to reports of his mother, JF ate a very well-rounded diet. Many of his favorite

foods included whole grain cereals, baked beans, and vegetable salads, all high in fiber and

nutrients. His mother is somewhat familiar with healthy eating patterns, and she voiced to her

dietitians that she had purchased a Mediterranean cookbook. She reported she and JF were

enjoying the recipes from it.

JF reportedly receives extra helpings of food during school. JF is given breakfast at home

consisting of toast and/or sausage and a second breakfast at school of pancakes and syrup. JF

would also consume a regular-size lunch at school, which would consist of an entrée, a vegetable

and/or fruit side, and milk. Dinner with his mother might consist of a salad, baked or steamed

vegetables, and grilled or baked meat. This was a concern for his previous dietitian, as she
continued to emphasize to his mother the importance of restricting calorie intake. She also

emphasized that JF will be insatiably hungry, no matter how much he eats. The previous dietitian

noted that his mother stated JF “just needs to control himself,” which is an unrealistic

expectation for a child with PWS. JF was also encouraged to exercise, however he spends most

of his leisure time in a sedentary environment.

The person with PWS has a significantly lower metabolism, about 70% of the average

child without PWS (Butler, 2019). This means the daily caloric intake recommendations for

children with PWS are about 60% of the RDA for non-PWS children. Consuming the RDA for

calories based on the child's age, height, and gender will lead to weight gain (Miller & Tan,

2020). The recommended caloric intake for a child with PWS is approximately 8-11 kcals per

centimeter of height per day (Miller & Tan, 2020). If the child needs to lose weight, the

recommendation is to consume 7 kcals per centimeter of height per day. This totals about 600-

800 kcal/day for children and 800-1100 kcal/day for adults (Miller & Tan, 2020). The

recommended macronutrient balance for patients with PWS is approximately 30% fat, 45%

carbohydrates, 25% protein, and includes at least 20g of fiber per day (Muscogiuri et al., 2021).

JF is 143.5 cm in height, so at 8-11kcal/cm/day, JF should receive approximately 1148-

1578 kcal/day. Some recommend as low as 6-7kcal/cm/day to promote weight loss. For JF this

amounts to 861-1005 kcal/day. The Prader-Willi clinic provided an Estimated Energy

Requirement of 840-980 kcal/day, or 6-7 kcal/cm to promote weight loss. Based on the

recommendations in the literature, this is an accurate estimation, as JF had a lower stature and

body weight at the time of his previous dietitian’s estimation. JF is an obese adolescent, and his

recommended fluid intake is 2400 mL/d per DRI for Obese Children method for estimating

needs.
 At the initial inpatient visit with a dietitian, JF’s mother reported that she found this

calorie goal impractical. JF is accustomed to eating adolescent-sized portions, not PWS-sized

portions. His mother will need to slowly decrease the size of his food portions to achieve his

calorie goal. This will likely require the school to reduce portions sizes at breakfast and lunch for

him as well. Dietitians at the pediatric hospital educate patients to measure their portion sizes

using their hand: the balled fist of a child is the portion size of a starch of grain, the thumb is for

butter and olive oil, and a serving of meat fits on the palm of the hand. Children with PWS have

small hands and feet as a characteristic symptom, so this may be a particularly useful education

lesson for these children with reduced calorie needs and varying levels of intellectual handicap.

Other recommendations for weight loss in obese pediatric patients PWS include filling half the

plate with non-starchy vegetables, drinking only milk or water (no juices, flavored waters, or

non-nutritive sweeteners), and limiting intake of red meat, processed meats, and sweets. These

recommendations are also helpful for weight loss in the non-PWS child.

While admitted to the hospital, JF is given a diet order entitled “diabetic carb counting,

no snacks.” Standard hospital protocol for diabetic patients is to limit their carbohydrate intake to

60-75g per meal, depending on the patient. Diabetic patients also get 2 snacks in the afternoon,

and this was allowed in JF’s diet order, as long as his calorie intake is restricted to 800 per day.

The diet and carbohydrate recommendations remained the same for home-going.

JF was a newly diagnosed diabetic, and it is hospital protocol to provide a formal diabetes

management training inpatient. This training is scheduled for all members of the family who will

partake in the care of the patient. This includes parents, grandparents, stepparents, school

officials, etc. The first day of training discusses the disease itself to help the family gain a better

understanding of diabetes. The presentation covers the basics such as the disease process, what
blood sugar is, how to test it, what the values indicate, and how to correct a high or low blood

sugar. The patient and family also learn how to dose and inject the insulin. On the second day,

the family receives nutrition education and practices counting grams of carbohydrate and dosing

units of insulin, and how to correct an elevated or depleted blood sugar level. The family

receives nutrition education on healthy general eating, how to read labels and identify the

carbohydrates, and how to count carbs in homemade recipes. This initial education can be

overwhelming for the family, as they are learning a great deal of new information. Following up

with his dietitian in the diabetes clinic will help make sure his disease is controlled.

JF was instructed to follow-up with the other hospital after his initial diagnosis of T2DM.

However, he was re-admitted to Dayton Children’s after the accidental insulin overdose

discussed previously. During this admission, dietitians followed up with JF’s mother to assess

progress after his initial diabetes diagnosis, as JF had gained 4 kg since his initial diagnosis.

After talking with his mother, it was discovered that she was trying to eliminate all carbohydrates

from her son’s diet. She was frustrated, spending too much money on groceries, and stretching

herself thin trying to count JF’s carbohydrates and calories. She reported JF was consuming

about 20 grams of carbohydrate per meal and cut out a lot of his favorite foods. Dietitians

clarified with his mom that carbohydrates do not need to be restricted, only counted.

JF’s mother also reported a significant decrease in bowel movement frequency. She

reported at baseline, JF would go 4-5 times per day, but now struggled to produce just one per

day. The changes in bowel movements followed the changes in his diet after his mom cut out

beans, cereal, and other high-fiber foods because she thought they contained too many carbs. JF

was taking 2 packets per day of Benefiber, but did not see improvement. Benefiber contains

soluble fiber, which does not promote laxation, explaining the lack of benefit. JF and his mother
were encouraged to continue enjoying their favorite high-fiber foods and plenty of fluids to see

an improvement.

JF was discharged from the hospital feeling much better, with appointments scheduled

for 4 days, 5 weeks, and 3 months out. At his first follow-up appointment, his dietitian noted that

his mother is no longer buying products labeled “keto,” and focusing more on fruits, vegetables,

and whole grains as the basis for their diet. JF’s A1C did not improve at the first appointment,

but JF and his mother are making good progress on implementing their new lifestyle changes.

PES Statements

Obesity, pediatric related to: excessive energy intake and decreased energy needs, as evidenced

by weight gain and BMI for age >97th percentile.

Reduced energy needs, related to: Prader-Willi Syndrome, as evidenced by the need for calorie-

restricted diet to prevent excess weight gain.

Altered nutrition-related laboratory values, related to: Type 2 diabetes mellitus, as evidenced by:

history of increased blood glucose and A1C of 7.3.

Food and nutrition related knowledge deficits, related to: carb counting and insulin dosing, as

evidenced by mom states she is restricting JF’s total carb intake and diet recall.

Vegetarian Implications

While there is no research studying the relation between PWS patients and vegetarian

diets, a plant-based diet would be ideal for JF for many reasons. A plant-based diet is higher in

fiber than the standard American diet (SAD), and PWS patients need a minimum of 20g of fiber

per day (Miller & Tan, 2019). Plant-based diets are also naturally lower in saturated fat and
cholesterol and have been shown to reduce the risk of obesity related diseases, like hypertension

and diabetes (Melina et al., 2016). Whole plant foods are also lower in calorie density than

animal products, making them a good choice for weight loss.

A switch to a fully plant-based diet would not be difficult, as JF states some of his

favorite foods include black-eyed peas, salads, roasted sweet potatoes, chopped fruits, and

sandwiches. Many of his favorite foods are already plant-based or can easily be made so. The

school is already required to offer a vegetarian option at meals, so no extra work would be placed

on his mother. She has already been cooking out of a Mediterranean cookbook; she and JF are

enjoying the recipes thus far.

JF’s mother has made a lot of changes along this journey, and she continues to alter their

lifestyle to improve her and JF’s health. She and JF would likely benefit from making small

changes in the beginning and slowing advancing more towards a fully plant-based diet over a

period of weeks. She could start by incorporating meatless Mondays, slowly reducing portion

sizes of animal products, and finding plant-based replacements for “fun” foods like chicken

nuggets and hamburgers. JF is not a picky eater, and his mother has not had trouble changing his

diet in previous years, so it would be reasonable to expect the same at this time.

Prognosis

The most difficult part of a diagnosis like diabetes is following your assigned protocol or

care plan. It becomes increasingly difficult for patients of low socioeconomic status to stick to

their diet and exercise plan. JF had the support of many, including his parents, grandparents,

teachers, and mental health providers. However, JF’s mother was trying to manage her son’s

disease as a single mother with unstable housing. Providing JF’s family with resources is the first
step in patient compliance. Once the family becomes established, they can focus more on treating

JF’s disease.

After the follow-up during his second admission, JF and his mother expressed general

positive attitudes towards their diet change. His mother bought a book on the Mediterranean diet

and is enjoying the recipes. JF was happy to learn he did not have to cut out his favorite foods,

including beans, potatoes, and his favorite high-fiber breakfast cereal. Providing resources to

families that they can utilize and connect with, such as healthy meal ideas for diabetes and a

diabetes management booklet, can help motivate the patient to comply with dietary protocol.

When patients are educated, they feel empowered and in control of their disease. It was clear to

the care team that JF would benefit from frequent follow-ups to help him and his mother stay on

track. The literature recommends at least every 3 months, once BMI, weight, and other risk

factors are controlled (Kim et al., 2022).

JF has developmental delays, and a patient with his disabilities should not have access to

medications, including insulin needles. His mother was able to lock up all medications after the

incident, but she is not permitted to put locks the cabinets at home, per her landlord. JF must be

supervised, especially around food and medications. The hospital social worker advised that JF

always be under the care of a trained adult. Keeping JF safe, supervised, and in a well-

established routine is important for not only glycemic management and weight control, but for

his mental wellbeing as well. The literature is clear that children with PWS can better control

their obesity, comorbidities, and behavioral conduct (Miller & Tan, 2020) when they are

following a strict routine.

After his accident that ended in an ER visit, JF was placed under the care of the hospital’s

outpatient endocrinology clinic. A Dexcom was placed on his arm and connected to an app on
his mother’s phone, so both she and the nurses can track his blood sugar throughout the day. He

was scheduled to follow up in 7 days, then again in 4 weeks, and every three months after that.

MyKidsChart allows his mother to send virtual messages to providers and get quick questions

answered. It is important that his mother stays connected with the endocrinologist to manage his

new diagnosis.

Implications for the Hospital

Increased lengths of stay and return visits equate to higher costs for the hospital. Now

that JF is under the care of the hospital’s endocrinology clinic, his blood sugar can be more

closely managed. Frequent follow-ups can help improve the patient’s overall health, fill gaps in

care, and decrease incidences of emergencies. Chronic diseases such as diabetes are a burden on

the healthcare system, and if not treated, can lead to the further development of diseases like

kidney disease, heart disease, and hypertension (Melina et al., 2016). These additional diagnoses

require treatment, further increasing healthcare costs. Combining preventative care with lifestyle

interventions can significantly decrease healthcare costs and overall mortality.

Conclusion

JF is an unfortunate case evidencing how severe obesity can lead to other comorbidities,

including a T2DM diagnosis at age 11. PWS is a lifelong diagnosis for JF, and I was inspired by

his mother’s acceptance of the new information, use it to make changes to her lifestyle, and

ultimately create a healthier life for her and her son. PWS is a difficult chronic disease for a

parent to manage, and the additional diagnosis of diabetes makes things harder for her. Caring

for a disabled child is an immeasurable task, especially for a divorced mother. It is a huge

responsibility for a parent not only to learn and understand a child’s diagnosis and apply this
understanding to the child’s care. A Understanding the disease process, the prognosis as the child

ages, how to handle obstacles and create a routine for a PWS child are crucial to provide

adequate care. It’s also important to ask for help so that the needs of the child and the caretaker

can be met.
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Appendices

Table 1: Carbohydrate to insulin ratio

Insulin type: Humalog Kwikpen
Time Ratio
Breakfast 15 Grams of carbohydrate/1Unit insulin
Lunch 15 Grams of carbohydrate/1Unit insulin

Afternoon snack 15 Grams of carbohydrate FREE

Dinner 15 Grams of carbohydrate/1Unit insulin

Bedtime snack 15 Grams of carbohydrate FREE

Table 2: Carb Count Dose

The insulin dose you take at Breakfast, Lunch and Dinner: 1 : 15
1 unit of insulin for every 15 grams of carbs
Grams of carbs Units of insulin

1-7 0

8-22 1

23-37 2

38-52 3

53-67 4

68-82 5

83-97 6

98-112 7

113-127 8

128-142 9

143-157 10
 158-172 11

173-187 12

188-202 13

203-217 14

218-232 15

233-247 16

Table 3: Blood Glucose Correction Scale

Insulin type: Humalog Kwikpen
Correction Daytime Bedtime Midnight & 3am

Blood Sugar Insulin Dose (units) Insulin Dose (units) Insulin Dose (units)
Under 150 0 0 0
150-200 1 0 0
201-250 2 1 0
251-300 3 2 1
301-350 4 3 2
351-400 5 4 3
401-450 6 5 4
451-500 7 6 5
501-550 8 7 6
551-600 9 8 7
Over 600 (HI) 10 9 8

Table 4: Ketone correction scale

Ketone Result Units of Humalog
Smal 1
Moderate 2
Large 3