Comprehensive transition planning by pediatric providers is essential for successful transition into adulthood and transfer to adult medical health care settings. Yet, little is known about the level and type of transition planning and preparation provided by pediatric primary care providers. This study examined the range of transition services provided in primary care pediatric centers. Primary care pediatricians across two states in the Midwest were mailed an anonymous survey designed to examine the transition practices of community pediatricians. A response rate of 38.4% was obtained. Most endorsed transferring patients to adult care at age 18 or older, and using patient chronological age, health status, and patient relationship with pediatric provider as criteria to gauge transfer time. About 60% of responders provide preparation to patients before transition, usually by providing a list of adult providers or by transferring medical records. Few responders provide additional type of transition or transfer planning. Many primary care pediatricians provide transition planning, yet there is high variability in the degree of transition planning provided and 40% of pediatricians provide no such support to their patients. Transition planning is also largely limited to providing referrals and transferring medical records. Study findings support the need for outreach efforts so that all youth receive the needed education and resources to successfully transition and transfer to adult health care.

Pediatric-onset inflammatory bowel disease (IBD) is known to be associated with severe disease, poor response to therapy, and increased morbidity and mortality. We conducted exome sequencing of two brothers from a non-consanguineous relationship who presented before the age of one with severe infantile-onset IBD, failure to thrive, skin rash, and perirectal abscesses refractory to medical management. We examined the variants discovered in all known IBD-associated and primary immunodeficiency genes in both siblings. The siblings were identified to harbor compound heterozygous mutations in IL10RA (c.784C>T, p.Arg262Cys; c.349C>T, p.Arg117Cys). Upon molecular diagnosis, the proband underwent successful hematopoietic stem cell transplantation and demonstrated marked clinical improvement of all IBD-associated clinical symptoms. Exome sequencing can be an effective tool to aid in the molecular diagnosis of pediatric-onset IBD. We provide additional evidence of the safety and benefit of HSCT for patients with IBD due to mutations in the IL10RA gene.

Little is known about the needs of adolescents with inflammatory bowel disease (IBD) with regard to transition, and how well those needs align with guidelines put forth by the American Academy of Pediatrics (AAP). This study examines perspectives on transition among young IBD patients and their caregivers. Surveys were mailed to 370 adolescent IBD patients, aged 12 years and older, and their caregivers. Most respondents endorsed ages 16 to 17 years as the best age to initiate discussions about transition, and age 18 years or older as the best age to transfer care. Independent self-management by patients was selected as the primary marker of transition readiness, while worry of starting over with a new provider was a primary barrier to successful transfer. Overall, the needs of youth with IBD and their caregivers are largely aligned with AAP best practice recommendations for transition. Further examination into patient needs is essential to inform transition planning efforts and identify targets of intervention.