Page 109 - Clinical variability in Noonan syndrome with emphasison ear and eye

RASopathies, treatments might become available. Hopefully at one day we will understand the complex signaling pathways and the genes that can control them and this will lead to possible therapeutic approaches.
Creating an international database can be an important first step in discovering new genes and genotype-phenotype correlations. Most studies include relatively small numbers of patients. When the clinical features and germline mutations of all RASopathies will be collected together, more questions can be answered. More international collaboration will also lead to better clinical care. A good example is the first management guidelines published in 2010 by a European consortium (16). The guidelines are translated in Dutch as well and are an important guide in the clinical care for Noonan syndrome patients.
In our clinical studies we found a group of Noonan syndrome patients who never visited an ophthalmologist and/or otorhinolaryngologist. The guidelines clearly advise vision screening and hearing assessment. Therefore we recommend referring patients with (suspicion of) Noonan syndrome to experienced healthcare providers, who work in a patient centered multidisciplinary clinic. This will lead to a continuity of care and improvement of patient care. It will also offer the opportunity to participate in (international) research and will lead in the end to better healthcare for Noonan syndrome patients. In the Netherlands a new collaboration will start. The patient centered multidisciplinary clinic will work together with the Dutch Noonan syndrome foundation. This collaboration should lead to better patient healthcare, new research projects, more enrollment in studies, and to an (inter)national anonymous database.
DISCUSSION AND SUMMARY
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