title: Primary care of a child with Rett syndrome.
abstract: OBJECTIVE
  To discuss the history, incidence, pathophysiology, diagnostic criteria, disease staging, clinical presentation and physical exam findings, and role of the primary care provider (PCP) as they pertain to care for a child with Rett syndrome (RS).
  
  
  METHODS
  Review of published literature on and diagnostic criteria of RS.
  
  
  CONCLUSIONS
  RS is a devastating X-linked neurodevelopmental disorder that affects females and a small percentage of males. RS is characterized by stereotypic wringing hand movements, social withdrawal, communication dysfunction, cognitive impairment, respiratory dysfunction, and failing locomotion. Diagnosis is generally made clinically despite available genetic testing. Advances in research have been beneficial; however, the pathophysiology of RS has proven to be elusive. RS is a complex disease that involves multiple organ systems.
  
  
  CONCLUSIONS
  PCPs need to be aware of how to manage RS patients if they present to the primary care office, and need to be prepared to diagnose RS early, provide appropriate interventions and referrals, understand the challenges, and understand the goal of treatment. They also should be able to provide continuity of care, provide anticipatory guidance, and engage in shared decision with families and patients.
authors.affiliation: (Pediatric Nurse Practitioner), Mary Bridge Children's Hospital, Developmental Services, Tacoma, Washington.
authors.forename: Angela
authors.initials: A
authors.lastname: Briggs
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D008297:Male; D011320:Primary Health Care / Q000379:methods*; D015518:Rett Syndrome / Q000175:diagnosis / Q000628:therapy*
keywords: Primary care; developmental delay; pediatric; role of advanced practice nurse