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Population-based empirical information to inform health care professionals working with children with spina bifida currently is lacking. Spina bifida is a highly complex condition that not only affects mobility but many additional aspects of life. We have developed a pilot project that focuses on a broad range of domains: surgeries, development and learning, nutrition and physical growth, mobility and functioning, general health, and family demographics. Specifically, we will: (1) explore the feasibility of identifying and recruiting participants using different recruitment sources, (2) test a multidisciplinary module to collect the data, (3) determine the utility of different methods of retrieving the data, and (4) summarize descriptive information on living with spina bifida.
The overall objective of the project was to provide information for a future multistate prospective study on the natural history of spina bifida.
Families with a child 3 to 6 years of age with a diagnosis of spina bifida were eligible for enrollment. Eligible families were identified through a US population-based tracking system for birth defects and from a local spina bifida clinic.
This is an ongoing project with first results expected in 2013.
This project, and the planned multistate follow-up project, will provide information both to health care professionals experienced in providing care to patients with spina bifida, and to those who have yet to work with this population. The long-term purpose of this project is to increase the knowledge about growing up with spina bifida and to guide health care practices by prospectively studying a cohort of children born with this condition.
Spina bifida (SB) is a neural tube defect (NTD) that occurs early after conception when the neural tube that forms the brain and the spine does not close properly. SB generally is considered one of the most complex birth defects compatible with life [
The most severe form of SB, myelomeningocele, is the most common of the NTDs, and the most complex birth defect compatible with long-term survival [
Part of the complexity associated with SB is that a number of body systems tend to be severely affected. In this project, we focus on the following medical specialties: orthopedics (eg, mobility), urology (eg, incontinence, urinary tract infections, and renal failure), and neurosurgery (eg, hydrocephalus and Arnold-Chiari II malformation). Psychosocial issues and specific learning problems also are reported frequently and addressed in the project. A brief review is provided in the following sections.
SB is challenging—it affects neurological functions, urological and kidney functions, and mobility for virtually everyone with the condition. Secondary conditions such as pressure sores [
Other medical consequences include neuropathic bladder, malfunctioning kidneys, urinary tract infections, and urinary and fecal incontinence. Although overall urological goals are similar if not identical (in that they focus on maintaining normal renal function, gaining urinary continence, and maximizing independence [
Mobility is affected negatively among most people with SB and is related to the level of lesion (LOL). Different definitions of LOL exist, but generally a higher LOL results in more severe mobility restrictions. The presence of scoliosis, kyphosis, club foot, hip and knee contractures, or other orthopedic conditions habitually warrant surgery and can affect mobility, and subsequently independence, negatively.
There is great heterogeneity in terms of cognitive function among people with SB [
Regardless of overall cognitive function, people with SB are at increased risk of specific problems that adversely affect their ability to learn, often resulting in academic difficulties. Substandard scores on certain types of memory tests [
While parts of the world struggle with lack of a steady food supply and malnutrition, obesity has received much attention in the United States and parts of Europe. Lack of exercise and unhealthy eating habits have long been associated with preventable morbidity and preterm mortality. Few researchers have focused on weight issues among people with SB. However, it is known that, in general, individuals with disabilities in the United States are at higher risk than people without disabilities of not reaching recommended levels of exercise [
The overall aim of the study was to assess the research design and methodology to inform a future multistate prospective study on the natural history of SB. In addition, the project has four main objectives: (1) to explore and compare the feasibility of identifying and recruiting participants using different recruitment sources, (2) to test a multidisciplinary model to collect data, (3) to determine the utility of different methods of retrieving data (ie, telephone surveys, in-person assessments, and record abstraction), and (4) to summarize preliminary descriptive information on the natural history of SB. As part of the third objective, we will investigate whether participants prefer in-person assessments or a telephone survey.
Families with a 3-, 4-, 5-, or 6-year-old child with a diagnosis of SB (International Statistical Classification of Diseases and Related Health Problems, Ninth Revision, Clinical Modification (ICD-9-CM) codes 741.0 and 741.9 without 740.0 and 740.1 or the codes 741.00-741.99 without 740.00-740.10 from the modified British Paediatric Association coding system) currently residing in the State of Georgia in the United States will be eligible to participate. Confirmation of diagnoses will be possible in those cases where we can extract the ICD code from the medical records. Children with a diagnosis of SB occulta will be excluded, as the natural history of SB occulta is presumed to be quite different from that of SB aperta. CDC already tracks children born with certain congenital conditions, including SB, in selected areas in a limited number of states in the United States. In Georgia, this population-based surveillance system is called the Metropolitan Atlanta Congenital Defects Program (MACDP). Using MACDP for recruitment purposes provides certain strengths for the project, such as an established sample frame of eligible children, a physician-confirmed diagnosis of SB, and limited contact information that is updated periodically. A drawback of recruiting solely from the MACDP is that it is limited to five metropolitan Atlanta counties. The experience of growing up with SB might be quite different for children with SB and their families who are not living in a metropolitan area. For example, the type of care available and the experience and knowledge of the professionals working with these children and their families might differ. Recruitment strategies for these families will be different as well. Therefore, a convenience sample will be included and we will use different methods to recruit families who are not part of MACDP (
Recruitment Scheme.
Family involvement will be solicited in the SB clinic in Atlanta in person and by mail, or through a letter from the MACDP. A recruitment center headed by NORC will be notified of those who are interested and those families will be contacted. After an interested family is contacted by the recruitment center, the project recruiter will ask the parent to orally confirm that the child has a diagnosis of SB (myelomeningocele) and is in the 3–6 years of age range. An explanation of the project will follow, during which parents will be encouraged to ask any project-related questions they might have. If they are interested in participating, contact information will be obtained. Next, the parents will choose which project component they wish to complete (telephone survey or in-person assessments). Only the telephone component is available for monolingual Spanish-speaking individuals. Randomizing participants into project components would be desirable. However, because we are interested in assessing which component parents prefer, and because long driving distances might deter those living far from the assessment site from participating if they were to be randomized to the in-person component, we decided not to randomize. If a parent chooses the in-person component, an appointment will be scheduled and a reminder letter and directions to the assessment site will be mailed to the parent. If a parent chooses the telephone survey component, the project recruiter will proceed either by conducting the survey or by scheduling an appointment to complete the survey at a later time. Parents who choose not to participate will be asked for the main reason for that decision (open-ended) and thanked for having taken the time to learn more about the project. A separate recruitment log will be used to record the reasons stated for deciding not to participate. These data will be an important part of the project, as anecdotal information has shown it is difficult to recruit participants for research related to SB. These data can provide direction on how to design future longitudinal projects to maximize participation.
After oral consent is obtained, the interviewer will read all questions verbatim in the order indicated in the questionnaire. Each participant’s responses will be marked directly on the paper-and-pencil interview copy of the survey. At the conclusion of the telephone survey, the interviewer will store the completed paper-and-pencil interview form in a secure, locked cabinet and project staff will enter the survey data into an electronic data file that will be stored on a secure network. Identifying information that is collected during the course of the telephone survey (eg, names, addresses, and telephone numbers) will be separated physically and permanently from the survey data and entered into a separate database. The telephone survey is estimated to last approximately 90 minutes. Participants will receive $25 for participating.
Data will be collected from both the child and the parent. After the informed consent process is completed, a licensed clinical child neuropsychologist will assess the child. The parent will complete the parent portion of the assessment in a separate room with assistance from the project coordinator (
The project survey, created specifically for this project, contains items related to medical concerns, development and learning, nutrition and physical growth, mobility and functioning, general health, and family demographics. The survey used in the in-person component contains the same items as the survey used in the telephone survey component. Parents participating in the in-person component will be asked to fill out the McMaster Family Assessment Device which measures family functioning, the Behavior Rating Inventory of Executive Function- Preschool version (BRIEF-P) to measure executive functioning, and the Pediatric Evaluation of Disability Inventory (PEDI) which measures functional abilities. Parents will also be asked to fill out the Adaptive Behavior Assessment System (ABAS), which measures daily living skills, and the Children's Health Care Patient History Questionnaire, developed by the neuropsychologists at the Children’s Healthcare of Atlanta clinic. The neuropsychological battery will consist of 5 separate assessments: the Differential Abilities Scale II (DAS-II) will be used to measure cognitive abilities, the Peabody Picture Vocabulary Test 4th edition (PPVT-4) will be used to measure receptive vocabulary, the NEPSY-II will be used to measure cognitive abilities, the Wide Range Assessment of Visual Motor Abilities (WRAVMA) will be used to measure visual-motor integration, and finally, the Bracken Basic Concept Scale (BBCS-R) will be used to measure basic concept acquisition, receptive language, and school readiness. More details on the different study instruments can be found in
If the parent completes the telephone survey, he or she will be mailed hardcopy forms to authorize release of the child’s medical and early intervention records. The parent will be asked to read, sign, and return the forms in a self-addressed, stamped envelope provided by the project. If the parent completes the in-person component, written authorization to release the child’s medical and early intervention records will be sought at the beginning of the in-person session. Copies will be made of the medical records or the early intervention records, or both, at the respective clinics and sites and taken to the coordinating office. Relevant data will be extracted from the records and transferred onto 2 separate forms that have been created specifically for the project. Reliability is often a concern in most types of records abstractions. In this pilot, we are primarily interested in investigating if the data we are interested in can be found in the records.
Descriptive statistics will be computed on the quantitative data. Specifically, means, standard deviations, and confidence intervals will be computed for continuous variables, and frequencies and percentages will be computed for dichotomous and categorical data. If the sample size is sufficient, we will compare the participants based on LOL, sex, and race and ethnicity using multivariate statistics. The child assessment results will provide information on how this sample of young children with SB scored compared with the normative scores. We also will reevaluate whether the standardized measurements and tests were appropriate for this specific group of individuals, or whether other measurements might be more appropriate in the future. The qualitative data will be reviewed carefully, summarized, and used to inform future recruitment of individuals with SB or other potentially disabling conditions, with an emphasis on improving recruitment strategies for surveillance systems. Following project completion, recruitment data will be reviewed and summarized. We also will calculate how many participants chose the in-person component versus the telephone survey component. Participant feedback on both components will be reviewed carefully and summarized to guide and inform potential changes that might be necessary to improve future projects. Missing data patterns will be reviewed to assess if there were particular items or sections that families were more likely to skip. These types of data are essential, as the long-term goal is to follow children with SB longitudinally.
The project already has undergone ethical review and been approved by three separate institutional review boards (US government, university, and hospital). The project has also undergone Office Management and Budget review and been approved. Oral consent will be obtained from those participating in the telephone survey and written consent will be obtained from those participating in the in-person component. Verbal assent will be obtained from children 6 years of age before they participate in the in-person component.
As in many studies that do not rely solely on clinic-based samples, we have no accurate way to determine how many families are eligible to participate, thus making it difficult to make an assumption of sample size. We will use different approaches to inform and recruit participants. Although the current project is cross-sectional, preventing determination of causality, we are in the process of planning a multistate prospective study that will be better suited to address causality, as appropriate. The in-person component will not be available in Spanish, which will limit the options for monolingual Spanish-speaking participants.
Parent administered instruments to be used.
Instrument | Number of items | Topics/domains | Cronbach alpha coefficients | Reliability coefficients |
Project surveya,b | 201 |
(1) medical concerns, (2) development & learning, (3) nutrition & physical growth, (4) mobility & functioning, (5) general health, & (6) family demographics | not applicable | not applicable |
McMaster Family Assessment Device [ |
60 | Family functioning |
.57-.86 [ |
one-week test-retest .67-.76 [ |
BRIEF-P [ |
63 |
Executive functioning |
.80-.95 [ |
4.5-week test-retest- .78-.90 [ |
PEDI [ |
217 | Functional abilities |
.95-.99 [ |
not applicable |
ABAS-II [ |
241 | Daily living skills |
.98-.99 [ |
.90 [ |
Children’s Health care Patient History Questionnaireb |
|
6 sections (1) identifying information, (2) pregnancy & newborn history, (3) developmental history, (4) medical history, (5) educational background, & (6) social history | not applicable | not applicable |
Medical & early intervention records data abstraction formsa,b |
|
For medical and early intervention abstraction from records |
not applicable | not applicable |
aUsed in the telephone component
bUsed in the in-person component
The child assessments to be administered (in-person component only).
Assessment | Topics/domains subtests included | Cronbach alpha coefficients | Reliability coefficients |
DAS-2 [ |
Cognitive abilities, 7 core subtests from early years battery |
not applicable | not applicable |
PPVT-4 [ |
Receptive vocabulary |
.94 [ |
one-week test-retest-.93 [ |
NEPSY-II [ |
Cognitive abilities |
.90-.91[ |
.72-.89 [ |
WRAVMA [ |
Visual-motor integration |
exceeding .90 [ |
.81-.91 [ |
BBCS-R [ |
Basic concept acquisition & receptive language, school readiness composite |
not applicable | .86 [ |
The lack of information about the natural history of SB needs to be rectified by collecting multistate longitudinal data at all life stages. Having this information will facilitate the development of appropriate health care recommendations and general guidelines for people with SB at different life stages, affecting outcomes in self-management, relationships, and learning and employment. It is imperative that knowledge be gained regarding the identification of developmental delays before the optimal time of developmental achievement has passed. Determining the interventions needed to address these delays will help people living with SB to be more likely to realize their full potential. Such an undertaking requires pilot testing of the proposed methods prior to implementation on a larger scale. The current project, although cross-sectional, is a first step towards recruiting and following a larger sample of children born with SB. By using different data retrieval methods, we will learn which yield the most valid and reliable data. We also will learn what data collection method is most acceptable to participating families, optimizing participation rates and reducing attrition for future projects.
Adaptive Behavior Assessment System
Bracken Basic Concept Scale
Behavior Rating Inventory Preschool Version
Centers for Disease Control and Prevention
clean intermittent catheterization
differential abilities scale 2
International Statistical Classification of Diseases and Related Health Problems
level of lesion
Metropolitan Atlanta Congenital Defects Program
developmental neuropsychological assessment
neural tube defect
Pediatric Evaluation of Disability Inventory
Peabody Picture Vocabulary Test
spina bifida
Wide Range Assessment of Visual Motor Abilities
We would like to thank Dr. Vincent A. Campbell for his willingness to share his expertise during the development of the project. The current project was funded by the Centers for Disease Control and Prevention. AS (Principal Investigator) and JT have made substantial contributions to conception, design, and are responsible for drafting the manuscript, MS has made substantial contributions to the conception and the design, DM has made substantial contributions to the design, KC has made substantial contributions to the conception and the design and CS and EW have made substantial contributions to the design. The findings and conclusions in this report are those of the author(s) and do not necessarily represent the official position of the Centers for Disease Control and Prevention.
None declared.