AAP Health Supervision Guidelines for Prader-Willi syndrome

Question 1

What is the genetic abnormality in Prader Willi Syndrome?

Answer 1

Imprinting disorder of the paternally inherited 15q11q13

Question 2

What is the incidence of PWS?

Answer 2

1 in 15 000 to 25 000

Question 3

What are the fetal clinical findings in PWS?

Answer 3

• breech position
• reduced fetal activity
• polyhydramnios

Question 4

What are the clinical findings for growth in PWS?

Answer 4

• short stature
• FTT in infancy
• central obesity

Question 5

What are the clinical findings for the head and neck in PWS?

Answer 5

• dolichocephaly
• narrow bitemporal diameter
• almond shaped eyes
• strabismus
• upslanting palpebral fissures
• myopia
• hyperopia
• thin upper lip
• small appearing mouth
• down turned corners of mouth
• thick viscous (reduced) saliva
• enamel hypoplasia
• early dental caries
• dental crowding and malocclusion

Question 6

What are the ocular clinical findings in PWS?

Answer 6

• strabismus
• nystagmus
• cataracts (rare)
• retinal hypopigmentation
• fovea hypoplasia
• hyperopia
• myopia

Question 7

What are the respiratory clinical findings in PWS?

Answer 7

• hypoventilation
• OSA
• central sleep apnea

Question 8

What are the GI clinical findings for PWS?

Answer 8

• feeding problems in infancy
• GER
• decreased vomiting

Question 9

What are the GU findings in PWS?

Answer 9

• small penis
• scrotal hypoplasia
• cryptorchidism
• hypoplastic labia minora
• hypoplastic clitoris

Question 10

What are the skeletal findings for PWS?

Answer 10

• osteoporosis
• osteopenia
• scoliosis
• kyphosis
• small hands and feet
• narrow hands with straight ulnar border
• clinodactyly

Question 11

What are the skin, nails, and hair findings in PWS?

Answer 11

• hypopigmentation
• blonde to light brown hair
• frontal hair upsweep

Question 12

What are the neurological findings in PWS?

Answer 12

• severe neonatal hypotonia that improves with age
• poor neonatal suck and swallow reflexes
• poor gross motor coordination
• poor fine motor coordination
• mild to moderate MR
• LD
• increased risk of seizures
• GDD
• speech articulation problems
• hyperphagia

Question 13

What are the sleep findings in PWS?

Answer 13

• snoring or OSA
• central apnea during sleep
• excessive daytime sleepiness
• early morning waking
• night awakening for food seeking

Question 14

What are the voice findings in PWS?

Answer 14

• hypernasal speech

* weak or squeaky cry in infancy

Question 15

What are the endocrine findings in PWS?

Answer 15

• hyperinsulinemia
• GH deficiency
• hypogonadotropic hypogonadism
• DM Type 2

Question 16

What are the behavior and mental health findings for PWS?

Answer 16

• skin picking
• rectal picking
• food related behavioral problems
• temper tantrums
• difficulty with transitions
• stubbornness
• obsessive behaviors
• perseverant speech
• OCD
• psychosis
• elopement

Question 17

What other findings can be seen in PWS?

Answer 17

• temperature instability
• high pain threshold
• unusual skill with jigsaw puzzles

Question 18

What are the major findings for Prader Willi Syndrome?

Answer 18

Congenital hypotonia with poor suck
GDD
Difficulty with weight gain in infancy 
Hyperphagia with central obesity if uncontrolled 
Cognitive impairment usu. MR

Question 19

What are the health supervision guidelines in newborns (from birth to 1mo) in PWS?

Answer 19

• confirm diagnosis with methylation
• review history for growth & development, feeding problems, symptoms OSA
• physical exam for hypotonia & hypogonadism
• special feeding issues
• refer to early interventions
• provide support services for PWS

Question 20

What are the health supervision in infancy (1m to 1y) for PWS?

Answer 20

• plot growth
• development and refer to early intervention
• monitor time/work of feeding and caloric density of food to maintain appropriate growth
• evaluate for undescended tested or inguinal hernia
• consider trial of hCG injections and referral to endocrinology
• ophthalmology
• vaccines as needed
• increased risk of seizures

Question 21

What are the health supervision guidelines in early childhood (1-5yo) in PWS?

Answer 21

• growth and development
• feeding issues and dietician referral
• annual hearing and vision screening before 3yo
• scoliosis q1y
• reduced salivation and increased caries so dentist q3-4m
• assess for OSA

Question 22

What are the health supervision guidelines in late childhood (5-13yo) for PWS?

Answer 22

• growth and development
• scoliosis
• evaluate behaviors such as binge-eating, running away, skin picking
• ophthalmology q1y (strabismus)
• signs of premature adrenarche
• mgmt skin picking

Question 23

What are the health supervision guidelines in adolescence to early adulthood (13-21yo) for PWS?

Answer 23

• physical exam for evidence of CHF, peripheral edema, skin picking, scoliosis
• evaluate diet, caloric intake, & exercise program and stress obesity prevention
• ophthalmology q1y
• monitor for signs of psychosis or OVD
• pubertal evaluation and refer to endocrine