Joubert Syndrome and Related Disorders

Implications for Nurse Practitioners

Laurie Anne Ferguson, FNP-C; Maritza Salgado, FNP-BC


Journal for Nurse Practitioners. 2012;8(4):316-322. 

In This Article


JS and JSRD are rare conditions with a wide spectrum of clinical symptoms. A few affected individuals may not demonstrate any clinical anomalies, and the variety of outcomes may be difficult to predict. Although great progress has been made in the identification of genes responsible for JSRD, a clear genetic cause cannot be identified for most patients with the current state of the science. Affected families with JSRD need the most current and up-to-date information regarding this syndrome to make decisions regarding care. The sad reality is that, for many families experiencing the consequences of a rare syndrome, the PCP may not have sufficient understanding or knowledge to assist them. For patients who live in rural areas, the geographic barriers may make referral to university medical centers difficult, if not impossible.

The implications for primary care practice are great. Providers need to stay current with the emerging technology and science of genetics and genomics and provide information and assistance through appropriate referrals and support. Electronic medical records would greatly enhance the continuity of care between specialty providers, especially where specialists whose expertise in treating rare syndromes may be separated by large geographical distances (Box 3). Technological advances have produced earlier identification of rare syndromes. As the identification of the genetic cause of disorders increases, the need for integrating genetics into primary care will also increase. Nurse practitioners, as primary care providers, can play pivotal roles in providing support and guidance for families with special needs.


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