Table 3.

Management guidelines by system

	At diagnosis	After diagnosis	If symptomatic
General	Complete physical and neurological examination; medical genetics consultation to confirm diagnosis, consider molecular genetic testing and genetic counselling	Yearly complete physical and neurological examination; return to geneticist if genotype negative or for multisystem assessment; genetic counselling at adolescence or when a young adult	Orchiopexy by age 1 year for cryptorchidism; if lymphoedema, refer to specialty clinic; brain and cervical spine MRI if intracranial pressure increases; electroencephalogram and referral to neurologist if seizures suspected
Developmental	Multidisciplinary developmental assessment	Developmental screening yearly for children aged 5–18 years	Neuropsychologist testing if screening abnormal; referral to early intervention if delays detected before age 3 years; individual education plan for children aged 5–18 years with delays
Dental	First dental assessment between age 1 year and 2 years	Yearly dental assessment	··
Growth and feeding	Plot growth on curves for Noonan syndrome	Plot growth on curves for Noonan syndrome three times per year until age 3 years, then yearly	Refer to gastroenterologist for feeding problems or recurrent vomiting, or if evidence of growth failure without comorbid cause exists; thyroid function tests if signs or symptoms of hypothyroidism
Cardiovascular	Cardiac examination, electrocardiogram, echocardiogram	Follow up on the basis of initial findings. If initial assessment normal, repeat every 5 years	··
Ophthalmological	Baseline eye examination Baseline audiology examination	Repeat every 2 years, sooner if indicated	··
Audiological	Baseline audiology examination	Repeat if recurrent otitis media or speech delay	Refer to ear, nose, and throat specialist for recurrent otitis media or serous otitis; hearing aids or classroom interventions for hearing loss
Haematological	Complete blood cell count with differential, and prothrombin time or activated partial thromboplastin time	Repeat complete blood cell count with differential and prothrombin time or activated partial thromboplastin time if aged 6–12 months at initial screen; pre- operatively: complete blood cell count with differential and prothrombin time or activated partial thromboplastin time, second tier (in consultation with haematologist) factor IX, XI, and XII concentrations, von Willebrand factor, platelet aggregation	Prothrombin time or activated partial thromboplastin time if bleeding abnormal or persistent, refer to haematologist; complete blood cell count with differential for splenomegaly; complete blood cell count with differential and liver function studies for hepatosplenomegaly
Renal	Kidney ultrasound	··	··
Skeletal	Clinical assessment of spine with radiology if indicated by examination	Repeat spinal examination yearly through adolescence; radiology and referral to orthopaedic specialist if abnormal	··