Monitoring

With special care and counseling, the majority of children with NS will grow up and function normally in the adult world. Human Growth Foundation Opens in new window[42] The following are suggested to assist physicians caring for NS patients and their families. 

Neonatal period (birth to 1 month)

  • Thorough cardiology exam, including echocardiography and electrocardiography

  • Measurement of weight, length, and head circumference

  • Evaluation of males for undescended testes

  • Renal ultrasound

  • Assessment for hypotonia, poor feeding, and failure to thrive.

Infancy (1 month to 1 year)

  • Measurement of weight, length, and head circumference, and comparison with general population and Noonan syndrome-specific growth charts[32]

  • Evaluation of motor development

  • Check for serous otitis media

  • Repeat cardiology evaluation

  • Complete eye exam and hearing evaluation, with periodic surveillance, depending on the findings of the initial exam.

Early childhood (1 to 5 years)

  • Annual measurement of weight, length, and head circumference, and comparison with general population and Noonan syndrome-specific growth charts[32]

  • Speech evaluation at approximately 2 years of age

  • Evaluation of behavior if there are parental concerns

  • Consideration of coagulation studies, including prothrombin time, partial thromboplastin time, bleeding time, and platelet count

  • Continued eye examinations as indicated, to ensure that the problems are detected early, and that they are treated accordingly.

Late childhood (5 to 13 years)

  • Annual monitoring of growth, development, and social adaptation

  • Determination of school readiness and assessment of IQ using the WISC-RN (Wechsler Intelligence Scale for Children Revised) test, the VMI (Visual-Motor Integration), and the RPM (Raven Progressive Matrices)

  • Annual cardiologic follow-up if an abnormality is present.

Adolescence and adulthood (13 to 21 years and older)

  • Monitoring of pubertal stages according to Tanner

  • Evaluation of the male pituitary-gonadal axis if pubertal delay is evident

  • Continued cardiologic evaluation

  • Coagulation studies may be repeated if clinically indicated, but bleeding abnormalities present in childhood often resolve at a later age

  • Review of school performance in adolescence.[85]

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