Patient discussions
Teenagers may benefit from family and/or psychosocial support to adjust to short stature or chronic cardiac disease, lymphatic dysplasia, or learning difficulties. The transition from paediatric to adult care is a key moment for individuals to be more involved in their own health care. In late teens, a discussion of autosomal inheritance is important so that the patient has an understanding of a 50% likelihood of an affected child and an awareness of the variable phenotype, availability of genetic testing, and antenatal diagnosis. A DNA test for mutation analysis can be carried out on blood, chorionic villi, and amniotic fluid samples.[42] Couples with a family history of Noonan syndrome may want to consider genetic counselling before having children. Noonan Syndrome Foundation Opens in new window
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