Table 6.

Recommended Evaluations Following Initial Diagnosis in Individuals with Noonan Syndrome

System/ConcernEvaluationComment
Constitutional Measurements of growth parameters
  • On NS-specific growth charts
  • To identify those w/failure to thrive &/or short stature
Endocrine Bone age, growth hormone & thyroid function studies 1In children w/short stature (height >2 SD below standard growth curve or crossing 2 major height %iles)
Gastrointestinal/
Feeding 		Gastroenterology / nutrition / feeding team eval
  • In infants w/poor weight gain, dysphagia
  • Eval for malrotation if persistent unexplained vomiting
Development Developmental assessmentTo incl:
  • Motor, adaptive, cognitive, & speech-language eval
  • Eval for early intervention / special education
Psychiatric/
Behavioral 		Neuropsychiatric eval may be considered.For those age >12 mos: screen for behavior concerns, autism, depression, ADHD, & anxiety (some symptoms may not be present until adulthood).
Cardiovascular Echocardiogram & EKGTo identify congenital heart defects, cardiomyopathy, &/or cardiac conduction abnormalities
Genitourinary Kidney ultrasoundTo assess for renal anomalies; if present, referral to urologist
Assessment for cryptorchidism in malesReferral to urologist if cryptorchidism is present
Musculoskeletal PT/OT evalTo incl:
  • Assessment of gross motor & fine motor skills
  • Need for PT (to improve gross motor skills) &/or OT (to improve fine motor skills)
Consider radiographs of the spine if asymmetry or scoliosis is present on physical exam.Consider referral to orthopedist.
Hematologic/
Lymphatic 		In consultation w/hematologist: bleeding history, CBC w/differential, PT/aPTT, factor XI, XII, IX, VIII, vWf, & platelet aggregation testingIf initial screening was performed before age 12 mos, repeat after age 12 mos. 2
Eyes Ophthalmologic evalTo assess for amblyopia, refractive error, nystagmus, strabismus, & clinically significant ptosis
Hearing Audiologic evalAssess for hearing loss & middle ear effusion.
Integument Full skin examConsider referral to dermatologist in those w/multiple lentigines requiring monitoring or significant xeroderma. 3
Neurologic Neurologic evalTo incl brain & spine MRI if signs or symptoms consistent w/possible Chiari malformation
Genetic
counseling 		By genetics professionals 4To inform affected persons & their families re nature, MOI, & implications of NS in order to facilitate medical & personal decision making
Family support
& resources 		Assess need for:

ADHD = attention-deficit/hyperactivity disorder; MOI = mode of inheritance; NS = Noonan syndrome; OT = occupational therapy; PT = physical therapy; PT/aPTT = prothrombin/activated partial thromboplastin time; vWF = von Willebrand factor

1.

Thyroid function tests may include TSH and free T4.

2.
3.
4.

Medical geneticist, certified genetic counselor, certified advanced genetic nurse

From: Noonan Syndrome

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