Table 6.

Recommended Evaluations Following Initial Diagnosis in Individuals with Prader-Willi Syndrome

System/ConcernEvaluationComment
Hypotonia
  • Assessment of newborns & young infants for sucking issues & poor growth
  • Nutrition consultation
  • PT eval
  • If prolonged, eval for hypothyroidism
Developmental delay Developmental assessment
  • To incl motor, adaptive, cognitive, & speech-language eval
  • Eval for early intervention / special education
Hypogonadism
  • Assessment of males for presence of cryptorchidism regardless of age
  • Assessment of pubertal stage
  • Urologic consultation for consideration of orchiopexy
  • If pubertal stage is not age appropriate, refer to endocrinologist for eval & potential hormone therapy.
Endocrine
  • Referral to endocrinologist for treatment w/GH therapy to be considered at diagnosis
  • Glycosylated hemoglobin concentration &/or glucose tolerance test to assess for diabetes if obese at diagnosis
  • Free thyroxine & TSH levels to assess for hypothyroidism
  • Assessment for manifestations of central adrenal insufficiency
Growth
  • Assessment of height & weight
  • Plot height, weight, head circumference, & BMI on either age-appropriate growth charts &/or charts developed for PWS
  • Growth charts for affected infants & children not treated w/GH have been published. 1
  • Growth charts for GH-treated children w/PWS have been developed. 2
Hyperphagia/Obesity Nutritional consultation
Behavior
  • Assess for behavioral findings & obsessive-compulsive features after age 2 yrs.
  • Assess family support, parenting skills, & psychosocial/emotional needs to assist in designing family interventions.
Dermatologic Clinical assessment for open sores &/or infection secondary to skin picking
Eyes Ophthalmologic evalTo assess for reduced vision, abnormal ocular movement, strabismus
Sleep
  • Evaluate respiratory status during sleep w/sleep study prior to initiation of GH therapy.
  • Evaluate excessive daytime sleepiness / narcolepsy / cataplexy w/overnight sleep study followed by multiple sleep latency testing & video EEG.
Scoliosis Assess clinically & radiographically, if indicated.Very obese persons cannot be adequately assessed clinically for scoliosis & x-rays are necessary to establish the diagnosis.
Hip dysplasia
  • Assess infants for hip dysplasia.
  • Hip ultrasound at age 6 wks
Seizures Consider EEG if seizures are a concern.
Dental Dental exam for ↑ risk of caries, dental crowding, & enamel hypoplasia
Genetic counseling By genetics professionals 1To inform affected persons & their families re nature, MOI, & implications of PWS to facilitate medical & personal decision making
Family support
& resources 		Assess need for:

BMI = body mass index; GH = growth hormone; MOI= mode of inheritance; PT = physical therapy; PWS = Prader-Willi syndrome; TSH = thyroid-stimulating hormone

1.
2.
3.

Medical geneticist, certified genetic counselor, certified advanced genetic nurse

From: Prader-Willi Syndrome

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