Spina bifida as a congenital neurodevelopmental condition: Developing a philosophy of health care transition across the lifespan

Abstract

Spina bifida (SB) is a broad term encompassing several subgroups of neural tube defects including myelomeningocele, meningocele, and lipomyelomeningocele. Myelomeningocele is the most common form of open SB, accounting for approximately 80% of all SB. For a significant subpopulation of historically underserved individuals, precursors to poor condition-specific outcomes may be best conceptualized through a “three-hit” model. Whereas the first two “hits” are experienced prenatally (i.e., neural tube lesion and its environmental exposure to amniotic fluid), the third “hit” may involve combinations of additional genetic and/or ecological exposures, such as unfavorable social drivers of health. Promisingly, life expectancy for people living with SB has improved significantly due to continued development in medical technology. However, there are also notable differences in the health systems that take care of children when compared to adults, and many individuals struggle with this transition. In response, The Spina Bifida Association's Guidelines for the Care of People with Spina Bifida outlined how to support independence and access to adult-centered care. As the care for SB has evolved over the years, so has the Journal of Pediatric Rehabilitation Medicine (JPRM). The journal has developed new formats to showcase current clinical and innovative practice, advocacy, and research. To this end, the journal has established both collections and tracks to best organize publications. JPRM's collection on SB care has recently included a broad array of works conducted and written by a diverse number of professionals – from surgeons to public health advocates – from numerous institutions across the globe. Thus, from fetal surgery to adult medicine, the investigational journey of SB traverses many fields, technologies, and service models; yet a constant remains – the crucial need for a patient-centered evidence-based care philosophy in the midst of adverse social drivers and an aging population facing many challenges. Opportunely, through a new format of collections, JPRM is poised to continue to be a resource for the global community of clinicians, advocates, and investigators caring for individuals with SB across the lifespan.

Spina bifida (SB) is a broad term encompassing several subgroups of neural tube defects including myelomeningocele, meningocele, and lipomyelomeningocele. Myelomeningocele is the most common form of open SB, accounting for approximately 80% of all SB.^1,2 For a significant subpopulation of historically underserved individuals, precursors to poor condition-specific outcomes may be best conceptualized through a “three-hit” model. Whereas the first two “hits” are experienced prenatally (i.e., neural tube lesion and its environmental exposure to amniotic fluid), the third “hit” may involve combinations of additional genetic and/or ecological exposures, such as unfavorable social drivers of health. ¹ Furthermore, the associated neurologic impairments vary depending on a number of factors. Higher-level lesions typically cause more severe motor defects in addition to cognitive issues, impaired sensation, as well as neurogenic bowel and bladder that can occur with all people with SB.

Life expectancy and quality of life for people living with SB has improved significantly over the last several decades due to continued development in medical technology and treatment along with changing attitudes and supports towards disability. ³ Unlike the previous century, estimates demonstrate that 85% of individuals with SB live to adulthood.^4,5 However, for young adults living with SB, the transitions across the lifespan are marked with milestones such as developing responsibility for self-management of bowel and bladder regimens, navigating community supports to live and work independently, and coordinating care with multiple specialists. ⁶ There are also notable differences in the health systems that take care of children when compared to adults. Pediatric care tends to be family-centered with parents or caregivers functioning as the primary decision-makers, whereas adult care is patient-centered and focuses on individual autonomy in medical decision-making. ⁷ In the care for children with SB, multidisciplinary clinics are the accepted model for care, but there are few equivalent models in the care for adults with SB. The 2018 Spina Bifida Association's Guidelines for the Care of People with Spina Bifida added a new section, the Transition Healthcare Guideline, to describe and support transition practices based on expert consensus. ⁸ The guideline outlined how to support independence and access to comprehensive care throughout adolescence and into adulthood.

As the care for SB has evolved over the years, so has the Journal of Pediatric Rehabilitation Medicine (JPRM). The journal has developed new formats to showcase current clinical and innovative practice, advocacy, and research. To this end, the journal has established both collections and tracks to best organize publications. JPRM's collection on SB care has recently included a broad array of works conducted and written at numerous institutions across the globe. JPRM's SB collection continues to advance evidence-based care and promote quality of life for people living with chronic conditions. In the latest additions to the collection, investigators provide both a historical overview and an update on global approaches to neurosurgical closure of myelomeningocele, with an emphasis on the importance of multidisciplinary care coordination in the era of prenatal repair. The authors highlight the philosophical importance of standardizing practices across institutions, not only for surgical closure itself, but also for longitudinal follow-up care to reduce care fragmentation and ultimately improve long-term health outcomes for individuals with SB across the lifespan.

Individuals with SB are at increased risk for pressure injuries due to associated immobility and sensory deficits below the lesion level. Also in this collection, Kirkland-Kyhn et al. introduce the innovative use of pressure mapping technology to provide caregivers and clinicians with data to optimize positioning and pressure distribution, all with the goal of preventing pressure injuries, an adverse long-term health outcome. ⁹ Across the globe, Mayaya et al. addressed care for individuals with SB highlighting the experience of Bugando Medical Centre in sub-Saharan Africa with the neurosurgical management of SB and hydrocephalus. ¹⁰ The authors demonstrated the pressing need for the development of a formalized protocol to guide care and support the long-term health and well-being of individuals following neurosurgical intervention.

Moreover, Neißkenwirth et al. showcased in the collection the complexity of caring for individuals with SB in addition to another rare genetic co-morbid condition – achondroplasia. ¹¹ Such complexity creates unique challenges for respiratory management and rehabilitation. The authors demonstrated how a creative and communicative interdisciplinary care team is essential to promote successful participation in social activities and school integration.

Across the lifespan, it is becoming increasingly apparent that adult care is a critical topic in today's national dialogue on SB care. A work included in this collection, by Fremion et al., explores the experience of adults with SB during emergency department visits or hospitalizations, with a focus on medical trauma. ¹² As SB is associated with a wide range of co-morbid conditions, individuals require lifelong engagement with the healthcare system, which puts them at higher risk for medical traumatic stress. Through narrative analysis, the authors demonstrated a need for improved patient-provider communication both during emergency department visits and/or hospitalizations, as well as throughout the process of transitioning to adult care.

From fetal surgery to adult medicine, the investigational journey of SB traverses many fields, technologies, and service models; yet a constant remains – the crucial need for a patient-centered evidence-based care philosophy. Simultaneously, through a new format of collections, JPRM is poised to continue to be a resource for the global community of clinicians, advocates, and investigators caring for individuals with SB across the lifespan.