Abstract
Individuals with Spina Bifida (SB) have unique lifelong medical and social needs. Thus, when considering how to promote health and offer preventive care, providers must adapt general healthcare screening and counseling recommendations to their patients’ physical and cognitive impairments along with discerning how to monitor secondary or chronic conditions common to the population. This article provides an update on the health promotion and preventive health care guidelines developed as part of the Spina Bifida Association’s fourth edition of the Guidelines for the Care of People with Spina Bifida. The guidelines highlight accommodations needed to promote general preventive health, common secondary/chronic conditions such as obesity, metabolic syndrome, hypertension, musculoskeletal pain, and considerations for preventing acute care utilization for the SB population throughout the lifespan. Further research is needed to understand the effectiveness of preventive care interventions in promoting positive health outcomes and mitigating potentially preventable acute care utilization.
Introduction
Individuals with Spina Bifida (SB) have unique lifelong medical and social needs. Thus, when considering how to promote health and offer preventive screenings and counseling in this population, providers must adapt general care guidelines to the specific needs of individuals with SB and monitor for and address common SB-related conditions.
Individuals with SB should have age-based routine screening and health promotion counseling such as height and weight monitoring, vision and hearing screening, and wellness visits [1, 2]. However, many medical offices may not have accessible facilities or equipment to conduct necessary screenings such as adjustable examination tables to allow for transfer, scales that are wheelchair accessible or safe for people with limited balance, and equipment and training to measure height for a patient who is not able to stand. Due to these facility limitations, individuals with SB may have difficulty in fully accessing routine and preventive health care services.
Moreover, counseling patients with SB and their families may require additional time. Families of infants and children may have many questions about routine care. School age children and young adults may require additional counseling regarding education services to meet their learning and health accommodation needs. As more people with SB achieve adulthood, attention must be paid to typical reproductive health counseling and screening for cancer and other common adult conditions. Given that individuals with SB often have learning, executive function, or intellectual disability, adolescents and adults may need additional coaching and navigation support regarding medical care, community living, education and employment, and self-management [3, 4].
To provide comprehensive preventive care for individuals with SB, both pediatric and adult care clinicians should be familiar with and be able to screen for, recognize, manage, and appropriately refer for SB-related conditions. However, general preventive care tools and templates likely will not include questions about SB-related conditions such as bladder and bowel management, pressure ulcers, shunt problems, or musculoskeletal pain and mobility changes. Thus, clinicians may need to develop additional tools and templates to regularly evaluate these concerns and plan for extra time to discuss care plans with patients, caregivers, and their other health providers. Additionally, it is important to maintain care coordination among subspecialists and primary care providers throughout the lifespan [5, 6].
Guideline goals and outcomes
Aligning with the goals in the general population, the overall goal of health promotion and preventive care for individuals with SB is to support improved long-term health and optimize chronic conditions, promote well-being and quality of life, and decrease emergency department visits and hospitalizations particularly for preventable conditions [7, 8]. To focus our guideline development and recommendations for the SB population, the workgroup devised the following primary, secondary, and tertiary goals:
Primary
Maximize physical and mental health for individuals with SB within the context of the underlying condition. Identify risks and the presence of common secondary conditions early.
Secondary
Limit potentially preventable emergency department visits and hospitalizations for individuals with SB. Monitor trends of identified and newly emerging secondary conditions.
Tertiary
Provide patient-centered general health monitoring based on the United States Preventive Services Task Force (USPSTF) recommendations and SB-specific care needs.
Clinical questions that informed the health promotion and preventive health care service guidelines
Clinical questions that informed the health promotion and preventive health care service guidelines
These guidelines were developed as part of the SB Association’s fourth edition of the Guidelines for the Care of People with SB [9]. The scientific methodology for guideline development is described by Dicianno, et al. [10]. In summary, workgroups were convened consisting of international, multidisciplinary teams of clinical and research experts to develop a framework for the guidelines by topics. Secondly, the executive committee conducted an extensive literature review, consisting of library search strategies and supplementation by articles contributed by workgroup members. For this topic, the following search strategy was used: myelomeningocele, lipomyelomeningocele, meningocele, neural tube defects, spinal dysraphism, or SB were combined with the terms obesity, nutrition, diet, therapeutic recreation, community participation, preventive, hypertension, lymphedema, pain, and health outcomes. Additionally, proxy terms for health outcomes such as emergency department visits and hospitalizations were included. General health guidelines from the United States Preventive Services Task Force (USPSTF) were also reviewed to determine adaptions needed to implement these recommendations for individuals with SB. The articles were grouped by methodology, being cognizant of the Oxford Grading of Recommendations Assessment, Development and Evaluation (GRADE) ratings for quality of evidence related to strength of recommendation [11]. When applicable, the evidence from the literature search was used to develop these guidelines, and where it was limited to inform SB-specific preventive care, general age-based health care guidelines were provided with additional expert clinical recommendations for SB.
Clinical questions
The workgroup reviewed the previous guidelines, noting the absence of health promotion as a topic. The goals and outcomes for this new topic were determined by the group, along with a list of pertinent clinical questions organized by age. These questions can be separated into three categories: (1) whether individuals with SB receive general health promotion guidelines and how preventive counseling affects longitudinal outcomes, (2) age of onset of secondary and/or chronic health conditions and how screening/intervention affects outcomes, and (3) how to predict and mitigate acute care utilization. These questions guided the literature search and became the framework of the Health Promotion and Preventive Health Care Services guidelines Table 1 provides the guiding questions.
Results
Using the initial search terms, 19 articles were included for review, consisting of 13 observational studies (cohort or cross-sectional studies), 2 qualitative studies, 2 narrative literature reviews, and 2 health promotion guidelines. Evidence was limited, based on available publications and study design. Expert clinical opinion or reliance on general USPSTF recommendations were used for the majority of the recommendations Consequently, the guidelines for Health Promotion and Preventive Medicine are not above the “low” rating, according to GRADE determinations [11]. The recommended care guidelines for Health Promotion and Preventive Health Care Services for people with SB are listed in Table 2.
Health promotion and preventive health care service guidelines
Health promotion and preventive health care service guidelines
* Numbers in parentheses are articles in the Reference List. Of note, articles cited include those from the initial search strategy and additional ones found following the process.
There were significant gaps in the literature addressing the rate at which individuals with SB received recommended preventive care and how preventive screening, counseling, and early intervention affected related outcomes. Qualitative studies reported the importance of fostering self-management, organizational skills, and a sense of independence among adolescents and young adults with SB [12, 13]. However, there were no interventional studies found with this search strategy that targeted these themes or measured the rate at which preventive screening guidelines or reproductive health care guidelines were met. Having a medical home may increase access to preventive care and screening. However, a single Canadian Institute of Health Information data system study found less than a quarter of adults with SB participated in that system of care [14].
Limited studies have evaluated the age of onset and the longitudinal outcomes for screening and early intervention of secondary and other chronic conditions such as hypertension, metabolic syndrome, pain, and sleep apnea in SB. While observational studies identified conditions such as hypertension [15, 16] metabolic syndrome [17], pain [18, 19, 20, 21], and lymphedema [22], there were no studies evaluating interventions to decrease the risk or successfully treat conditions in the SB population.
Information from three secondary analyses of large databases note individuals with SB have increased emergency department and inpatient utilization compared to the general population [14, 23, 24]. Neurogenic bladder related issues, especially urinary tract infections (UTI), may be the most common reasons for health care utilization [24, 25]. They are implicated as a risk for mortality in individuals with SB who have end stage renal disease, are on dialysis, and are post transplantation [27]. A single study from the United Kingdom reported that death before age five was common, a higher level of SB lesion was associated with a higher risk for mortality Later causes of death were most commonly documented as unknown, followed by epilepsy, pulmonary embolus, acute hydrocephalus, and urosepsis [26]. Of the articles found using the search criteria, none evaluated interventions to prevent emergency room use, inpatient admission, morbidity, or mortality.
There is limited scientific information about health promotion and preventive health care services for people with SB. Although the majority of the guidelines regarding SB-specific care are based on clinical consensus, there is strong support for following the general USPSTF recommendations for wellness exams and screening in all age groups. Studies to determine if individuals with SB receive general recommended preventive care at the same frequency as those without SB are lacking. For children and adolescents with SB, regular follow up with a primary care or medical home clinic and a SB-specific multidisciplinary clinic may promote preventive care services and care coordination [25, 26, 27]. However, this care model may not be available for adults with SB [14]. Since the guideline search process was completed, there has been additional evidence of the limited preventive care for adults with SB related to reproductive health care and cancer screening [28, 29, 30, 31]. Both men and women with SB may have poor understanding of their reproductive potential and face discouragement from their providers in discussing their reproductive wishes [28, 32]. Thus, efforts to discuss reproductive health and safe sex practices with adolescents and adults with SB should be included in preventive care visits. Barriers to receiving age-appropriate screenings for adults with disability mirror those of the general population (e.g., lack of knowledge about screenings, lack of provider referral, time constraints, and poor experiences during screenings) [30]. Moreover, adults with disability may have unique barriers such as fearing the burden of a new diagnosis in addition to their underlying condition and lack of appropriate health care system accommodations (e.g., transportation, equipment facilities, and personnel trained to aid them with transfers and positioning) [30]. Strategies to overcome such barriers are relevant for any provision of health care for people with disability and include training for professionals and their office staff regarding respectful communication, medical knowledge and skills about disability care, and proper equipment and facility accommodation [28, 30]. These recommendations are for primary care as well as specialty care clinics.
Compared to the general population, individuals with SB may have increased common cardiovascular risks such as hypertension, metabolic syndrome, and obesity [15, 16, 17, 33]. It should be noted that there is insufficient data to define the most accurate method for height measurement for individuals with SB, particularly for those with higher lesions who are wheelchair dependent. Use of other methods, such as waist circumference, may be a better option [34]. Consistency of measurement is important for counseling related to nutrition, physical activity and obesity management. For more information on nutrition and obesity as well as anthropomorphic measurements, please see the Nutrition, Metabolic Syndrome and Obesity Guidelines article in this special issue. Other common secondary/chronic conditions of concern for people with SB include pain, bowel/bladder management, pressure ulcers, depression, sleep disturbance, and limited social and community participation [35, 36, 37]. The most common medical condition reported in a US survey of adults with SB (
Individuals with SB experience increased morbidity and mortality as well as increased acute care utilization compared to those without SB [14, 23, 39, 45, 46]. Urinary tract infections, device complications such as shunt malfunction, pressure ulcers and soft tissue infections, as well as pneumonia are often reasons for acute care utilization for all age groups and therefore are important diagnoses to target for preventive care interventions [23, 24, 39, 47]. However, intervention studies to decrease emergency and acute care use have been sparse. One wellness intervention utilizing home-based case management and goal-setting self-management initially demonstrated a decrease in all-cause emergency department use; however there was no significant change in emergency department use or hospital admissions after two years [48].
Although the scientific evidence is limited, clinical consensus recognizes the importance of identifying and evaluating SB-related conditions during prevention and chronic care visits (see Guidelines for the Care of People with SB on the
What are the prevalence and the risks for common and SB-related conditions? What are the common causes for preventable or unanticipated mortality? What are key anticipatory guidance or management strategies to prevent the need for acute care utilization? How does a medical home help to prevent admissions for all age groups? What are the characteristics that may put an individual with SB at risk of low self-rated health and quality of life? Are there preventive care interventions or supports that may promote self-rated health or quality of life? What adaptations to general care practice and the USPSTF recommendations do individuals with SB need, taking into account patient-centered perspectives and biomedical information? What long-term care planning is needed to support the best health for adults with SB?
Footnotes
Acknowledgments
This edition of the Journal of Pediatric Rehabilitation Medicine includes manuscripts based on the most recent “Guidelines For the Care of People with Spina Bifida,” developed by the Spina Bifida Association. Thank you to the Spina Bifida Association for allowing the guidelines to be published in this forum and making them Open Access.
The Spina Bifida Association has already embarked on a systematic process for reviewing and updating the guidelines. Future guidelines updates will be made available as they are completed.
Guideline Executive Committee
Timothy J. Brei, MD, Spina Bifida Association Medical Director; Developmental Pediatrician, Professor, Seattle Children’s Hospital. Sara Struwe, MPA, Spina Bifida Association President & Chief Executive Officer. Patricia Beierwaltes, DPN, CPNP, Guideline Steering Committee Co-Chair; Assistant Professor, Nursing, Minnesota State University, Mankato. Brad E. Dicianno, MD, Guideline Steering Committee Co-Chair; Associate Medical Director and Chair of Spina Bifida Association’s Professional Advisory Council; Associate Professor, Department of Physical Medicine and Rehabilitation, University of Pittsburgh School of Medicine. Nienke Dosa MD, MPH, Guideline Steering Committee Co-Chair; Upstate Foundation Professor of Child Health Policy; SUNY Upstate Medical University. Lisa Raman, RN, MScANP, MEd, former Spina Bifida Association Director, Patient and Clinical Services. Jerome B. Chelliah, MD, MPH, Johns Hopkins Bloomberg School of Public Health.
Additional acknowledgements
Julie Bolen, PhD, MPH, Lead Health Scientist, Rare Disorders Health Outcomes Team, National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention. Adrienne Herron, PhD Behavioral Scientist, Intervention Research Team, National Center for HIV/AIDS, Viral Hepatitis, STD, and TB Prevention, Centers for Disease Control and Prevention. Judy Thibadeau, RN, MN, Spina Bifida Association Director, Research and Services; former Health Scientist, National Spina Bifida Program, National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention.
Funding
The development of these Guidelines was supported in part by Cooperative Agreement UO1DD001077, funded by the Centers for Disease Control and Prevention. Its contents are solely the responsibility of the authors and do not necessarily represent the official view of the Centers for Disease Control and Prevention or the Department of Health and Human Services.
Conflict of interest
Margaret Turk, MD is Co-Editor-in-Chief for the Disability and Health Journal, and reports a cooperative agreement with the Centers for Disease Control and Prevention, National Center for Birth Defects and Developmental Disabilities (#1U19DD001218)The other authors do not have any conflicts of interest to disclose.