AAP Health Supervision Guidelines for Prader-Willi syndrome Flashcards
What is the genetic abnormality in Prader Willi Syndrome?
Imprinting disorder of the paternally inherited 15q11q13
What is the incidence of PWS?
1 in 15 000 to 25 000
What are the fetal clinical findings in PWS?
- breech position
- reduced fetal activity
- polyhydramnios
What are the clinical findings for growth in PWS?
- short stature
- FTT in infancy
- central obesity
What are the clinical findings for the head and neck in PWS?
- 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
What are the ocular clinical findings in PWS?
- strabismus
- nystagmus
- cataracts (rare)
- retinal hypopigmentation
- fovea hypoplasia
- hyperopia
- myopia
What are the respiratory clinical findings in PWS?
- hypoventilation
- OSA
- central sleep apnea
What are the GI clinical findings for PWS?
- feeding problems in infancy
- GER
- decreased vomiting
What are the GU findings in PWS?
- small penis
- scrotal hypoplasia
- cryptorchidism
- hypoplastic labia minora
- hypoplastic clitoris
What are the skeletal findings for PWS?
- osteoporosis
- osteopenia
- scoliosis
- kyphosis
- small hands and feet
- narrow hands with straight ulnar border
- clinodactyly
What are the skin, nails, and hair findings in PWS?
- hypopigmentation
- blonde to light brown hair
- frontal hair upsweep
What are the neurological findings in PWS?
- 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
What are the sleep findings in PWS?
- snoring or OSA
- central apnea during sleep
- excessive daytime sleepiness
- early morning waking
- night awakening for food seeking
What are the voice findings in PWS?
- hypernasal speech
* weak or squeaky cry in infancy
What are the endocrine findings in PWS?
- hyperinsulinemia
- GH deficiency
- hypogonadotropic hypogonadism
- DM Type 2
What are the behavior and mental health findings for PWS?
- skin picking
- rectal picking
- food related behavioral problems
- temper tantrums
- difficulty with transitions
- stubbornness
- obsessive behaviors
- perseverant speech
- OCD
- psychosis
- elopement
What other findings can be seen in PWS?
- temperature instability
- high pain threshold
- unusual skill with jigsaw puzzles
What are the major findings for Prader Willi Syndrome?
Congenital hypotonia with poor suck GDD Difficulty with weight gain in infancy Hyperphagia with central obesity if uncontrolled Cognitive impairment usu. MR
What are the health supervision guidelines in newborns (from birth to 1mo) in PWS?
- 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
What are the health supervision in infancy (1m to 1y) for PWS?
- 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
What are the health supervision guidelines in early childhood (1-5yo) in PWS?
- 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
What are the health supervision guidelines in late childhood (5-13yo) for PWS?
- growth and development
- scoliosis
- evaluate behaviors such as binge-eating, running away, skin picking
- ophthalmology q1y (strabismus)
- signs of premature adrenarche
- mgmt skin picking
What are the health supervision guidelines in adolescence to early adulthood (13-21yo) for PWS?
- 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
