Healthcare transition in patients with rare genetic disorders with and without developmental disability: Neurofibromatosis 1 and williams–beuren syndrome

Abstract

There are between 5,000 and 8,000 distinct rare diseases (RDs) affecting 6-8% of the population, most of which are caused by genetic defects. Many are highly complex, childhood-onset, multi-system disorders that are often associated with developmental disability, and require lifelong, highly specialized care and support. As larger numbers of children with previously fatal RDs survive into adulthood, they encounter significant challenges in transitioning from family-centered, developmentally focused, multidisciplinary pediatric care to a less supportive adult healthcare system that is often unfamiliar with these conditions. This paper discusses the challenges of the transition from pediatric to adult health care in two groups of patients with multisystem genetic RDs (neurofibromatosis 1 [NF1] and Williams-Beuren syndrome [WBS]), and analyzes strategies for making the process easier for patients with and without developmental disabilities. Our findings show that there are still no guidelines in national healthcare programs on how to transition RD adolescents with and without developmental disabilities, and only a few pediatric centers have implemented the elements of transition in their general practice. Evidence regarding programs to facilitate transition is inconclusive and the transition from pediatric medicine to adult medicine for RDs remains a major challenge. However, transition requires both time and personnel, which are difficult to find in periods of fiscal austerity. Nevertheless, we should strongly advocate for governments investing more into transition infrastructure or they will face increased long-term social and economic costs due to poor treatment compliance, disengagement from services, increased genetic risks, and higher rates of disease-related complications.

Worries and needs of adults and parents of adults with neurofibromatosis type 1

“…The transitional period from pediatric to adult care is known to be a challenging phase for patients with NF1 and their parents (Oates et al, 2013; Van Lierde et al, 2013), which was confirmed by our participants. For many patients, this transition did not proceed well.…”

“…Although expert adult care for the tumor phenotype was often accessible, finding NF1 experts in other domains was difficult. The neuropsychological deficits that frequently occur in patients with NF1 may decrease their self‐care and organizational capabilities, which puts them at risk for problems during the transition to adult care (Van Lierde et al, 2013). At this age, as is also the case in our sample, differences between parent‐ and patient‐reported worries underline that both parents and young adults should be involved in the transitional process.…”

“…Furthermore, patients with NF1 are at risk for psychosocial problems. In adolescence and adulthood, the dermatological and neuronal tumor phenotype can exacerbate in a period in which appearance, acceptance, and social inclusion are of great importance (Van Lierde et al, 2013; Vranceanu et al, 2015). Additionally, the impaired socialization, low self‐esteem, and poor interpretation of social cues reported in children with NF1 (Lehtonen et al, 2013) may limit social participation in adulthood.…”

The neurologist's role in supporting transition to adult health care

“…Disease-specific centers or outpatient clinics are another option for adult health care, although these tend to be available only in larger cities. 9 When an adult health care provider is identified, the child neurology team should forward a medical transfer packet that includes the transition plan and a medical summary, which should include documentation of the underlying etiology; previous drug trials, treatments, and diagnostic evaluations; notable past procedures; current medications and laboratory results; and protocol for emergency care. An updated copy of this document should be routinely provided to the youth and caregiver.…”

“…[4][5][6][7] Several models of transition support have been developed and are beginning to be tested, although the available evidence remains insufficient to identify the best models. 5,[8][9][10][11][12] In acknowledgment of this clinical reality, and in response to the 2011 clinical guideline of the American Academy of Pediatrics/American Academy of Family Physicians/American College of Physicians "supporting the healthcare transition from adolescence to adulthood in the medical home," in which specialty providers were called to develop a framework for their population's unique needs, 13 the Child Neurology Foundation convened a multidisciplinary panel of experts in 2014 to develop this guideline. The authors of this consensus statement recognize the current paucity of evidence for successful transition models, and so propose 8 common principles that should be incorporated in any transition model, and which define the child neurologist's role and responsibilities throughout the transition process.…”