What is the management plan for Prader-Willi syndrome?

Management of Prader-Willi Syndrome

The management of Prader-Willi syndrome requires strict dietary control starting from infancy, growth hormone therapy initiated as early as 2-3 months of age, comprehensive behavioral interventions, and lifelong multidisciplinary surveillance to prevent life-threatening obesity and its complications. 1

Immediate Diagnostic Confirmation and Initial Assessment

• Confirm diagnosis with molecular genetic testing if not already done, as clinical features alone are insufficient 1
• Assess for hypotonia, feeding difficulties (poor suck, reduced arousal for feeding), and hypogonadism (undescended testes, small phallus/clitoris) in infants 1
• Evaluate for strabismus and refer to pediatric ophthalmology if present 1
• Screen for cardiac abnormalities and perform baseline polysomnography before initiating growth hormone therapy 1

Critical Early Feeding Management (Birth to 2 Years)

• Use nasogastric feedings with increased caloric-density formula if oral intake is inadequate, limiting feeding time to no more than 20 minutes per session 1
• Employ special nipples/feeders (Pigeon feeder, Haberman nipple) to reduce work of sucking 1
• Maintain adequate caloric intake for brain development—do not restrict calories prematurely as some parents may inappropriately limit fat and calories too early 1
• Monitor weight-for-length measurements closely using standard pediatric growth charts 1
• Refer immediately to early intervention services including physical therapy, occupational therapy, and speech therapy 1

Growth Hormone Therapy

Initiate growth hormone therapy as early as 2-3 months of age after confirming no contraindications, as this improves body composition, motor development, and IQ in infants. 1, 2

Pre-Treatment Requirements:

• Perform polysomnography before starting GH therapy regardless of age 1
• Ensure patient does not have severe obesity, history of upper airway obstruction/sleep apnea, or severe respiratory impairment (absolute contraindications per FDA) 3
• Rule out active malignancy 3

Monitoring During GH Therapy:

• Repeat polysomnography 6-10 weeks after initiation, then at 1 year and whenever new/worsening symptoms occur 1
• Monitor IGF-1 levels at least twice yearly, dosing to keep IGF-1 in physiologic range 1
• Monitor head circumference at each visit, especially if fontanelles are open when GH is started 1
• Immediately interrupt treatment if signs of upper airway obstruction (including new or increased snoring) or sleep apnea develop 3

Dietary Management by Age

Ages 2-5 Years (Onset of Weight Gain Phase):

• Implement strict dietary control with 10 kcal/cm of height as the target energy intake 4
• Use a fat-reduced, modified carbohydrate diet 4
• Schedule meetings with dietitian at least annually (or more frequently) to review caloric intake 1
• Establish food security routines—maintain strict meal schedules to build confidence that next meal will arrive on time 1
• Install locks on cabinets and refrigerators to limit food access 1

Ages 5-13 Years (Late Childhood):

• Continue strict dietary supervision with all family members, childcare providers, and school staff educated about food management 1
• Remove food-related visual cues from environment (e.g., birthday treats on teacher's desk) 1
• Educate relatives that "sneaking" food undermines nutritional regimen and is not appropriate 1
• Monitor for micronutrient deficiencies (calcium, vitamin D, iron, zinc, fiber) which are common 5
• Implement weight-loss strategy if obesity develops 1

Adolescence and Adulthood:

• Maintain energy restriction and supervised eating environment 1
• Regular evaluation for diabetes, hypertension, sleep apnea, heart failure, and peripheral edema 1
• Consider anti-obesity medications (metformin, topiramate, liraglutide, setmelanotide) though evidence is limited in PWS 2, 6

Behavioral Management

Early Childhood (2-5 Years):

• Address rigidity around daily routines and persistent temper tantrums characteristic of this age 1
• Implement behavioral strategies for skin-picking (primarily behavioral interventions; reserve topiramate for most severe cases only) 1
• Assess behavior at each visit, specifically asking about skin-picking, temper tantrums, and food-seeking 1

School Age and Adolescence:

• Monitor for escalating food-seeking behaviors including lying, stealing, and running away to obtain food 1
• Screen for developing psychosis or increasing obsessive-compulsive behaviors (risk higher with uniparental disomy than deletion) 1
• Consider selective serotonin reuptake inhibitors for behavior management when indicated 1

Endocrine Management

Hypogonadism:

• Trial human chorionic gonadotropin (hCG) for undescended testes before surgery to avoid general anesthesia in hypotonic infants 1
• Refer to pediatric endocrinology during adolescence to discuss pros/cons of sex hormone therapy 1
• Discuss contraception needs and explain that patients with PWS often have strong desires for children but face high genetic risks if pregnant 1

Thyroid Function:

• Screen thyroid function every 2-3 years or if symptomatic (central hypothyroidism occurs in up to 30% of children) 1, 7

Glucose Metabolism:

• Monitor glucose levels periodically, especially in those with obesity, Turner syndrome, or family history of diabetes 3
• Screen regularly for type 2 diabetes (occurs in up to 25% of obese adults with PWS) 7

Surveillance for Complications

Respiratory:

• Ask about snoring, restless sleep, and excessive daytime sleepiness at every visit 1
• Refer to sleep or pulmonary specialist if symptoms present 1

Orthopedic:

• Evaluate annually for scoliosis and refer to pediatric orthopedist as indicated 1

Ophthalmologic:

• Perform vision screening annually with attention to recurrence of strabismus 1

Dental:

• Refer to pediatric dentist by age 1 year due to reduced salivation and increased caries risk 1
• Consider dental cleanings every 3-4 months instead of every 6 months 1

Life-Threatening Emergency Recognition

Educate all caregivers that patients with PWS have increased pain tolerance and rarely vomit—vomiting after binge-eating is an ominous sign of potential intestinal necrosis requiring immediate emergency evaluation. 1

• High pain tolerance can mask symptoms of serious illness or injury, delaying treatment and potentially leading to death 1
• Maintain high index of suspicion for intestinal necrosis after binge-eating episodes 1

Transition to Adult Care

• Identify healthcare providers willing to learn about PWS, ideally with training in special needs populations 1
• Discuss guardianship, financial planning, and intrafamily relationships 1
• Continue lifelong monitoring for weight control, metabolic complications, sleep apnea, and behavioral issues 1

Common Pitfalls to Avoid

• Premature caloric restriction in infancy: Normal fat and calorie intake is essential for brain development in the first 1-2 years 1
• Delaying GH therapy: Benefits are greatest when started early, even before traditional growth failure is evident 1, 2
• Inadequate food security measures: Underestimating the intensity of hyperphagia and food-seeking behaviors leads to dangerous weight gain 1
• Missing sleep apnea: Failure to screen for and treat sleep-disordered breathing increases mortality risk, especially when initiating GH 1, 3
• Attributing all symptoms to PWS: Maintain vigilance for treatable comorbidities including thyroid dysfunction, diabetes, and psychiatric disorders 1, 7