Lecture 12

Question 1

Prader-Willi Syndrome

Answer 1

• 1/10,000-15,000 live births
• Neonatal hypotonia and FTT
• Hypogonadism w/ infertility
• Obesity & hyperphagia
• Short stature; small hands and feet
• Characteristic behaviors
• Mild to moderate ID
• Lack of paternal 15q11-q13 contribution

Question 2

Neonatal Period

Answer 2

o	Low muscle tone
o	Poor suck, FTT
o	Hypogonadism (clearer in males) & undescended testicles
o	Prominent forehead
o	Narrow bifrontal area
o	Down-turned mouth
o	Almond shaped eyes
o	Used to not be Dx at this age

Question 3

PWS Infancy period

Answer 3

o Hypotonia improves – slowly
o Strabismus (crossed eye)
o Feeding and activity improves
o Motor delays – often significant

Question 4

PWS 2-3 y.o. period

Answer 4

o	Obesity
o	Hyperphagia
o	Small hands and feet
o	Developmental delay
o	Milestone delay
o	Behavioral disturbances

Question 5

PWS Childhood Period

Answer 5

o	Obesity
o	Voracious appetite
o	Skin picking
o	Small hands and feet
o	Preservative behaviors
o	Tantrums
o	ID
o	Short stature
o	Small genitalia

Question 6

PWS Older Children, Teenagers Period

Answer 6

o Obesity
o Behavioral issues – temper tantrums, OCD, stubbornness, rigidity, self-injurious behavior
o Sexuality (socially based)
o Relatively mild ID

Question 7

PWS Adult Stage

Answer 7

o	Semi-independent living
o	Obesity control
o	Behavioral management
o	Social involvement
o	Vocational training
o	Medical issues – sleep apnea, osteoporosis, obesity related issues

Question 8

PWS Medical Treatments

Answer 8

o	Growth and muscle mass – GH deficiency & treatment
o	Bone (osteoporosis)
o	Obesity
	Cardiopulmonary compromise
	Skin problems (picking, edema, cellulitis)
	Type II diabetes
	Sleep apnea
o	Behavioral disorders
o	Fertility in females

Question 9

Nutritional Phase 0

Answer 9

decreased fetal movements & growth retardation

Question 10

Nutritional Phase 1

Answer 10

o Phase 1 (birth – 15 m, avg 9m) – hypotonic, not obsess
 Phase 1a – difficulty feeding w/ or w/o FTT
 Phase 1b weight is increasing at a normal rate but below normal curve

Question 11

Nutritional Phase 2

Answer 11

o Phase 2 (avg onset 2.08y) – weight gain
 Phase 2a – weight increase w.o change in appetite or caloric intake
 Phase 2b – weight gain associated w/ increased interest in food

Question 12

Nutritional Phase 3 & 4

Answer 12

o Phase 3 (avg onset 8y) – hyperphagia, foodseeking and lack of satiety
o Phase 4 (only some) – no longer has insatiable appetite, able to feel full