The Transition to Adulthood for Youth Living with Rare Diseases

Abstract

More children with rare diseases survive into adulthood. The transition period to adult healthcare presents many challenges for pediatric rare diseases. Few adolescents or their families receive any transitional support for the transition to adult healthcare or for their maturing psychosocial needs. Understanding the challenges in the transition process is critical to ensure that interventions designed to improve the transition are holistic and meet the needs of the youth and their families. Few transition programs are in place to meet the needs of those youth with rare diseases who cannot participate in medical decision making or who live independently because of severe disabilities and comorbidities. We searched the literature on preparation and outcomes for youth living with rare diseases in PubMed, CINAHL, and PsychInfo, excluding publications before 2010. The results revealed seven studies specific to rare diseases, special needs, or chronic conditions. Next, we discussed transition with experts in the field, GotTransition.org, and citation chaining, yielding a total of 14 sources. The barriers and challenges to transition were identified. Articles discussing solutions and interventions for transition in medically complex children were categorized care coordination or transition readiness. A large portion of children with rare disease are underserved and experience health disparities in transition.

Keywords: care coordination; interventions; pediatric to adult transition; rare disease; special needs; transition readiness.

Figure 1

Flow diagram of literature search methods, inclusion, and exclusion criteria.