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The COVID-19 pandemic has dramatically impacted delivery of outpatient care. Many people with spina bifida (SB) in the U.S. receive outpatient healthcare in a multidisciplinary setting. In accordance with state healthcare mandates, outpatient multidisciplinary clinic visits were deferred, postponed, or canceled, while telemedicine systems were implemented. A survey was created and distributed to all known SB clinics in the U.S. We explored the impact of the COVID-19 pandemic on the delivery of outpatient care for the SB population and the use of telemedicine in response. Novel uses of telehealth, benefits of use, suggestions for overcoming barriers, and future opportunities are identified and discussed.

Quality of Life (QOL) and Health-Related Quality of Life (HRQOL) are important concepts across the life span for those with spina bifida (SB). This article discusses the SB Quality of Life Healthcare Guidelines from the 2018 Spina Bifida Association’s Fourth Edition of the Guidelines for the Care of People with Spina Bifida. The focus of these QOL Guidelines was to summarize the evidence and expert opinions on how to mitigate factors that negatively impact QOL/HRQOL or enhance the factors positively related to QOL/HRQOL, the measurement of QOL/HRQOL and the gaps that need to be addressed in future research.

The COVID-19 pandemic has reminded us that, if of nothing else, we live in a globalized community. Enthusiasm for evidenced-based medical knowledge is also contagious. Just as the incidence of SARS-CoV-2, the associated coronavirus, has had a borderless impact on global public health, so too neural tube defects have widespread significance. Previously, the concept of “blue marble health” was introduced as a policy framework to illustrate trends in the geographic distribution of health disparities affecting at-risk populations that live, not only in low-income countries, but also in pockets of the populace in wealthier nations. Subsequently, the Spina Bifida Association’s Collaborative Care Network, through a cooperative agreement with the Centers for Disease Control and Prevention, recently produced the “Guidelines for the Care of People with Spina Bifida.” While language differences, immigration, cultural beliefs, acculturation, local resources and social determinants of health, must be taken into account when these guidelines are implemented across the globe, they could not come at a more suitable time. The current digital age, as well as open access to this special issue, will ensure their ongoing wide distribution.

Purpose The measurement of Quality of life (QOL) in adolescents and especially in adolescents with disabilities is limited, often by an assessment of function rather than perception. This analysis explores QOL in adolescents and young adults (AYA) with and without Spina Bifida (SB) from the perspective of AYA and their parents. Design and methods A descriptive study using content analysis was conducted as a component of a larger multi-site mixed-method study of secondary conditions and adaptation. Participants responded to a single open-ended question on the meaning of quality of life. Results Descriptive accounts from 209 families generated the following shared categories: an engaged family, a positive life, the goal of independence, being healthy, essential needs for living, having friends, relying on faith, and romantic relationships. A unique category emerged from parents, doing what AYA wants to do. Conclusions Family was the most frequently nominated component of QOL. The centrality of family in QOL is an important finding generally not assessed in measures of QOL or even less in health-related QOL instruments. Practice implications Findings illustrate the importance of evaluating overall QOL from the perspective of AYA and their parents.

Self-management and independence behaviors are associated with improved health conditions common to spina bifida such as skin integrity and bowel and bladder management. While most children with spina bifida ultimately achieve basic self-care behaviors, (e.g., dressing appropriately, planning activities with peers, or cooking pre-planned meals), they often lag 2–5 years behind their typically-developing peers in these activities [1]. Valid and reliable condition-specific assessments of self-management and independence are critical to optimizing outcomes for this population. Partnerships among parents, clinicians, and youths with spina bifida are essential to implementing tailored interventions based on these assessments. The guidelines delineated in this article are informed by current self-management research for people with spina bifida and offer recommendations to promote self-management and independence across the lifespan.

PURPOSE Psychometric data are reported for a new Global Family Quality of Life Scale (G-FQOLS) (3-items) evaluating family members, parents and adolescent/young adults (AYA). METHODS Families (N= 209) were interviewed in a study addressing secondary conditions and adaptation in families of AYA with and without spina bifida (SB). Principal component factor analysis with Varimax rotation, Cronbach alpha, and Intraclass correlation (ICC) for parent-AYA agreement of FQOL assessment were conducted. RESULTS A single factor with an eigenvalue greater than 1 was identified. Factor loadings were 0.79-0.94. Internal reliabilities were strong (α= 0.86-0.90). ICC coefficients between parent and AYA ratings were 0.38-0.48. CONCLUSION This study provides preliminary support for the G-FQOLS. This global appraisal of Family Quality of Life (FQOL) reflects a participant's personal weighting of domains important to him/her.

Purpose Continence is low in individuals with spina bifida, but published prevalence varies markedly across studies. The objective of this study was to examine bladder and bowel continence among patients served by multidisciplinary clinics participating in the National Spina Bifida Patient Registry and to examine whether variation in prevalence exists across clinics. Methods Data were obtained from patients 5 years and older from March 2009 to December 2012. Data were gathered at clinic visits using standardized definitions. Results Data from 3252 individuals were included. Only 40.8% of participants were continent of urine; 43% were continent of stool. Bladder and bowel continence differed by spina bifida type, with those with myelomeningocele having significantly lower reported prevalence of continence than those with other forms of spina bifida. Bladder and bowel continence varied across registry sites. Adjustment based on demographic and condition-specific variables did not make substantive differences in prevalence observed. Conclusion Less than half of spina bifida patients served in multidisciplinary clinics report bladder or bowel continence. Variability in prevalence was observed across clinics. Further research is needed to examine if clinic-specific variables (e.g., types of providers, types of interventions used) account for the observed variation.

Nurses are integral members of interdisciplinary healthcare teams providing transition services to adolescents and young adults with long-term conditions and disabilities. Using valid and reliable measures of self-management and transition readiness behaviors can be an important component of effective practice. To identify potential instruments for use in practice, a search was conducted using multiple databases for instruments developed in the last 10 years that addressed these behaviors and had some psychometric evidence. This process yielded both generic (n = 11) and condition-specific (n = 27) instruments. The authors provide analyses of the instruments identified including psychometric properties, strengths, weaknesses, and implications for practice. The most frequent critique of select instruments is the lack of stability evidence (test–retest analysis) which limits healthcare providers’ ability to assess these behaviors over time. The instruments included in this analysis offer nurses and other healthcare providers a variety of choices as they tailor interventions to optimize self-management and transition readiness behaviors for adolescents and young adults with long-term conditions and disabilities.

Background Self-management is critical to optimizing the health of individuals with a chronic condition or disability and is, therefore, a central concept in individual and family-centered healthcare delivery. The purpose of this review is to report the state of the science of self-management for individuals with spina bifida (SB) from a lifespan perspective. Objective This review will summarize the (a) development and use of self-management skills and behaviors across the life span, (b) factors related to self-management behaviors, (c) development of generic or condition-specific measures of self-management used with a spina bifida population, and (d) development and/or outcomes of interventions to improve self-management in SB. Methods The search strategy was limited to primary research articles published between 2003 and 2019 and followed PRISMA guidelines. The databases searched included: PubMed, CINAHL, PsycINFO, Web of Science, Cochrane, and Google Scholar. Studies that addressed self-management concepts in individuals throughout the life span and published in English were included. Results The search yielded 108 citations and 56 articles met inclusion/exclusion criteria. A systematic narrative synthesis was reported. The level of evidence identified was primarily Level III articles of good quality. Multiple demographic, environmental, condition and process factors were related to self-management behaviors. SB self-management instruments and intervention development and testing studies were identified. Conclusions This review provides a synthesis of the state of the science of self-management including factors related to self-management behaviors, preliminary evidence of instruments for use in SB, factors important to consider in the development and testing of future interventions, and gaps in the literature.

Purpose Measuring self-management behaviors in adolescents and young adults with chronic health conditions has become a priority in health care, yet there is a paucity of instruments that capture these behaviors. The purpose of this psychometric study was to evaluate the reliability and validity of the 17-item generic Adolescent/Young Adult Self-Management and Independence Scale II (AMIS II). Method Data were collected from 201 adolescents/young adults (AYA) with spina bifida and 129 of their parents. Exploratory factor analysis, confirmatory factor analysis, Cronbach alpha, frequencies, Pearson correlations, and intraclass correlations were used to evaluate the data. Results The exploratory factor analysis of parent data supported two related self-management factors (Condition Self-Management and Independent Living Self-Management). Confirmatory factor analysis of AYA data confirmed these two factors and an overall scale with good fit statistics (GFI and CFI = 0.86-0.95; RMSEA = 0.057). Internal reliabilities ranged from α= 0.72-0.89. Intraclass correlation analysis supported the stability of the instrument (ICC parent report = 0.82, AYA report = 0.84). Concurrent validity was supported with low to moderate correlations to six related but distinct variables. Conclusion Psychometric analysis supports this expanded measure of self-management for AYA with spina bifida. Evaluation of this instrument in AYA with other chronic health conditions is underway.

Background We combined literature review and consensus-building methodologies to develop health care guidelines for people with Spina Bifida across the life span. Objective The present paper describes the methodology used to update and expand this fourth edition of the Guidelines for the Care of People with Spina Bifida (“Guidelines”). This process was a fundamental initiative within the Spina Bifida Collaborative Care Network. Methods Working groups were formed consisting of international, multidisciplinary teams of clinical and research experts. A systematic review of multiple databases was conducted. The consensus building methodology, One-Text Procedure, was followed to draft and revise documents. Each section of the Guidelines was presented by working group chairs at a face-to-face meeting using the Nominal Group Technique (NGT). Results The Level 1 review resulted in 2449 abstracts being reviewed, and the Level 2 review resulted in 874 full text articles being archived for working groups. After working groups added and eliminated articles, a total of 803 manuscripts were included in the bibliography of the Guidelines. The final version of the Guidelines was then released in 2018. Conclusions Evidenced based-research and consensus methodologies were used to develop the fourth edition of the Guidelines. It is hoped that this document will guide not only health care providers, but also patients and families, so that people with Spina Bifida can have the best and most scientifically-based care and treatments throughout ever-longer and higher-quality lives.

BACKGROUND AND OBJECTIVES: Patients with spina bifida (SB) typically develop serious secondary conditions and undergo surgical procedures related to neurologic disorders, orthopedic abnormalities, bladder and bowel dysfunction, and skin breakdown. In this study, we describe the age distribution of common surgical procedures and health outcomes in patients with SB. METHODS: Using serial cross-sectional data from the National Spina Bifida Patient Registry (2009–2013; n = 4664), we examined surgical procedures (gastrointestinal, neurologic, orthopedic, skin, urologic, and other) and health outcomes (fecal continence, urinary continence, skin breakdown, and ambulation status) of patients with SB by age and SB type (myelomeningocele and nonmyelomeningocele). RESULTS: All patients who were enrolled had available health outcome data, and 81.5% (n = 3801) of patients had complete surgical procedure data, which totaled 18 891 procedures across their lifetimes. Almost all procedures (91.4%) occurred among participants with myelomeningocele SB. For both types of SB, the distribution of procedures varied by age. The most frequent procedures were neurologic, with approximately half (53%) occurring in patients

Purpose The purpose of this study is to determine if neuropsychological functioning and family protective factors are related to depressive symptoms in parents of adolescents with myelomeningocele (MMC). Methods Fifty adolescents (28 females, 22 males; predominately Caucasian; ages 12-21 years, M=15.7, SD=2.4) and their parents from a large Midwestern MMC Program participated in a cross-sectional descriptive mixed-methods study. Participants completed measures of adolescent clinical status (WeeFIM®, Demographic and Clinical Information Form), neuropsychological (NP) functioning, family protective factors and parents' depressive symptoms. Results Parents' depressive symptoms correlated significantly with NP functioning in the domains of Mental Processing Speed, Psychomotor Speed, Executive Functioning, Fine Motor Skills, and Language, and with each self-reported family protective factor. Multiple regression analysis revealed independent main effects for the NP variable, Executive Functioning and the Family Protective Factors Composite (p 0.10). Conclusion Clinicians are especially encouraged to include assessment of parental depressive symptoms if the adolescent has executive functioning impairments or if the parents have few family protective factors.

Spina bifida is the most common birth defect affecting the central nervous system (CNS) and is often characterized as the most complex birth defect compatible with survival [Liptak and El Samra, 2010]. Because of its complexity, the diagnosis and treatment of infants born with spina bifida begins before birth and through adulthood, involving multiple disciplines. Not surprisingly, research has flourished across several domains over the past decade. The purpose of this special issue of Developmental Disabilities Research Reviews is to systematically review research on spina bifida within different domains in an effort to promote integration and awareness of this research across disciplines involved directly with spina bifida. In addition, we hope to increase the awareness of contemporary research and treatment strategies for researchers and practitioners involved with other developmental disabilities. Although some aspects of spina bifida have been reviewed as part of previous issues, this is the first issue of the journal specifically devoted to spina bifida since an issue on neural tube defects edited by Sells [1998].

It is essential for youth with chronic health conditions like spina bifida (SB) to develop self-management skills to combat vulnerability, achieve self-sufficiency, and transition to adulthood. The purpose of this qualitative study was to describe the experience of self-management in 31 adolescent women with SB. Three themes emerged from this study: (1) opportunities to engage in self-management activities--knowledge, skills, and aspirations; (2) dance of individuation--parental impact on self-management; and (3) advocacy within self-management--confronting discrimination and stigma. The findings indicate that assessment and interventions to enhance self-management in adolescent women with SB are critical for supporting the range of condition-related and life skills needed for a transition to adulthood and independent living.

Background Neural tube defects (NTDs), including spina bifida and anencephaly, are the second most common birth defect with an incidence of 1/1000. Genetic factors are believed to contribute to NTD risk and family-based studies can be useful for identifying such risk factors. Methods We ascertained 1066 NTD families (1467 affected patients), including 307 multiplex NTD families. We performed pedigree analysis to describe the inheritance patterns, pregnancy outcomes, and recurrence risks to relatives of various types. Results Myelomeningocele or spina bifida (66.9%) and cranial defects (17.7%) were the most common NTD subtypes observed. The overall male:female ratio for affected individuals was 0.82, and there were even fewer males among individuals with an upper level NTD (0.62). Among twins, 2 of the 5 monozygotic twins and only 3 of 35 dizygotic twins were concordant, while 27% of the same sex twins were concordant, but none of the different sex twins. The estimated 6.3% recurrence risk to siblings (CI 0.04-0.08) is consistent with previous reports. Families with two or more affected individuals show a higher proportion of female transmitters (p = 0.0002). Additionally, the number of affected relatives in maternal compared to paternal lineages was more than double (p = 0.006). There were significantly more miscarriages, infant deaths, and stillborn pregnancies of the maternal aunts and uncles (p Conclusions Our data provide several lines of evidence consistent with a maternal effect, as well as a sex-influenced effect, in the etiology of NTDs.

Adolescent women with spina bifida (SB) face unique and diverse challenges. The purpose of this qualitative component of a larger mixed-method study on adaptation was to heighten rehabilitation nurses' understanding of self-concept and family relationships during adolescence. Interviews were conducted with 31 adolescent women and analyzed for themes. The women described a range of experiences, including challenges of typical adolescence, specific concerns about living with SB, school-based stressors, and incidences of teasing and bullying. The overall self-concept was primarily positive, despite the diverse stressors encountered. A significant source of strength was the close relationships with parents, although an undercurrent of tension related to independence was also expressed. Results from this study support the need for rehabilitation nurses to address not only the functional status but also the well-being and psychosocial challenges of adolescent women with SB.

BACKGROUND: Neural tube defects (NTDs) are considered complex, with both genetic and environmental factors implicated. To date, no major causative genes have been identified in humans despite several investigations. The first genomewide screen in NTDs demonstrated evidence of linkage to chromosomes 7 and 10. This screen included 44 multiplex families and consisted of 402 microsatellite markers spaced ∼10 cM apart. Further investigation of the genomic screen data identified a single large multiplex family, pedigree 8776, as primarily driving the linkage results on chromosome 7. METHODS: To investigate this family more thoroughly, a high-density single nucleotide polymorphism (SNP) screen was performed. Two-point and multipoint linkage analyses were performed using both parametric and nonparametric methods. RESULTS: For both the microsatellite and SNP markers, linkage analysis suggested the involvement of a locus or loci proximal to the telomeric regions of chromosomes 2q and 7p, with both regions generating a LOD* score of ∼3.0 using a nonparametric identity by descent relative sharing method. CONCLUSIONS: The regions with the strongest evidence for linkage map proximal to the telomeres on these two chromosomes. In addition to mutations and/or variants in a major gene, these loci may harbor a microdeletion and/or translocation; potentially, polygenic factors may also be involved. This single family may be promising for narrowing the search for NTD susceptibility genes. Birth Defects Research (Part A) 76:499-505, 2006.

BACKGROUND Vitamin A (retinol), in the form of retinoic acid (RA), is essential for normal development of the human embryo. Studies in the mouse and zebrafish have shown that retinol is metabolized in the developing spinal cord and must be maintained in a precise balance along the anteroposterior axis. Both excess and deficiency of RA can affect morphogenesis, including failures of neural tube closure. METHODS We chose to investigate 5 genes involved in the metabolism or synthesis of RA, ALDH1A2, CYP26A1, CYP26B1, CRABP1, and CRABP2, for their role in the development of human neural tube defects, such as spina bifida. RESULTS An association analysis using both allelic and genotypic single-locus tests revealed a significant association between the risk for spina bifida and 3 polymorphisms in the gene ALDH1A2; however, we found no evidence of a significant multilocus association. CONCLUSIONS These results may suggest that polymorphisms in ALDH1A2 may influence the risk for lumbosacral myelomeningocele in humans. Birth Defects Research (Part A), 2005. © 2005 Wiley-Liss, Inc.

Neural tube defects (NTDs) are the second most common birth defects (1 in 1000 live births) in the world. Periconceptional maternal folate supplementation reduces NTD risk by 50–70%; however, studies of folate related and other developmental genes in humans have failed to definitively identify a major causal gene for NTD. The aetiology of NTDs remains unknown and both genetic and environmental factors are implicated. We present findings from a microsatellite based screen of 44 multiplex pedigrees ascertained through the NTD Collaborative Group. For the linkage analysis, we defined our phenotype narrowly by considering individuals with a lumbosacral level myelomeningocele as affected, then we expanded the phenotype to include all types of NTDs. Two point parametric analyses were performed using VITESSE and HOMOG. Multipoint parametric and nonparametric analyses were performed using ALLEGRO. Initial results identified chromosomes 7 and 10, both with maximum parametric multipoint lod scores (Mlod) >2.0. Chromosome 7 produced the highest score in the 24 cM interval between D7S3056 and D7S3051 (parametric Mlod 2.45; nonparametric Mlod 1.89). Further investigation demonstrated that results on chromosome 7 were being primarily driven by a single large pedigree (parametric Mlod 2.40). When this family was removed from analysis, chromosome 10 was the most interesting region, with a peak Mlod of 2.25 at D10S1731. Based on mouse human synteny, two candidate genes (Meox2, Twist1) were identified on chromosome 7. A review of public databases revealed three biologically plausible candidates (FGFR2, GFRA1, Pax2) on chromosome 10. The results from this screen provide valuable positional data for prioritisation of candidate gene assessment in future studies of NTDs.

Drooling is a frequent complaint for individuals with developmental disabilities and their families. A variety of treatment options exist including behavioral or oral motor therapies, medications and surgical interventions. Several novel alternative therapies are also being explored. However, most treatments lack evidence-based demonstration of efficacy. Management of problem drooling benefits from a team approach.

Folate supplementation appears to reduce the risk for neural tube defects (NTDs). Methylenetetrahydrofolate reductase (MTHFR) is a candidate gene in the folate metabolism pathway that has been extensively studied in different human populations. We examined the risk associated with having the thermolabile variant (TT) of MTHFR in a study of 175 American Caucasians with NTDs and their families. We found a significant association in patients compared with 195 unrelated controls [odds ratio (OR) = 2.13, 95% confidence interval (95% CI) = 1.11-4.09)], but not in mothers (OR = 1.29, 95% CI = 0.622-2.67) or in fathers (OR = 1.45, 95% CI = 0.681-3.09). We found no evidence for unequal transmission from parents to an affected child (p > 0.10). We failed to find a previously reported association for a combined haplotype for MTHFR and cystathionine beta-synthase, except in subjects with NTDs compared with 559 pooled controls (OR = 2.87, 95% CI = 1.03-8.03). We found no evidence for an association for a novel CA-repeat polymorphism identified in a gene closely linked to MTHFR (p > 0.10). Our studies continue to suggest that additional candidate genes other than MTHFR may be responsible for an increased risk to NTD in some American Caucasian families.

Purpose: Since introducing the Malone antegrade continence enema (MACE) procedure into our practice, it has been our bias that social confidence and independence are significantly improved and satisfaction is overwhelmingly high. We objectively determine outcomes after the MACE to refine patient selection, and maximize the quality of perioperative counseling and teaching.Materials and Methods: An anonymous questionnaire was mailed to all patients who had undergone the MACE procedure within the last 4 years. Patient/parent satisfaction, impact on quality of life and clinical outcome were assessed with Likert scales. Demographic information, MACE specifics, preoperative expectations, and unanticipated benefits and problems were also recorded.Results: A total of 65 questionnaires were returned from our first 92 patients (71%). Myelodysplasia was the primary diagnosis in 88% of patients. Complete or near complete fecal continence was achieved in 77% of patients and all others had improved incontinence. The hi...

Adolescents with complex neurological conditions such as spina bifida require a holistic approach to their health care. Quality of Life (QOL) and the factors associated with QOL are important and understudied variables for these adolescents. A sample of 60 adolescents and their parents was interviewed to determine a) the adolescent’s and family’s QOL, b) condition/adolescent/family factors associated with QOL measures, and c) the relationship between adolescent and parent ratings on QOL measures. QOL was moderately high in these families. Few condition measures were related to QOL. However, several adolescent and family factors were significantly related to both overall QOL and health-related quality of life. There was no difference between adolescents and their parents on overall adolescent and family QOL items. Holistic practitioners need to be aware of areas perceived positively and negatively by these adolescents and their families as well as factors associated with outcomes.

The primary purpose of this study was to describe and compare medical, psychosocial, and economic needs of adolescents and young adults with a neural tube defect and their parents. A secondary aim of the study was to establish the psychometric properties of a previously published needs assessment tool. Forty-nine adolescent and 59 parents receiving services from a comprehensive spina bifida program at a large children's hospital completed a needs assessment survey designed to measure perceived needs for health and social services. The Needs Assessment Questionnaire includes 8 subscales (Accessibility/Transportation/Independence, Financial Concerns, Medical Resources, Communication/Acceptance of individuals with spina bifida, Family/Socialization, Education of others regarding spina bifida, School Services, and Vocational Training). Factors related to perceived needs and differences between adolescents and parents were explored. There was a significant difference (

We investigated the T locus as a candidate gene in a series of patients and families with lumbosacral myelomeningocele. Single-strand conformation polymorphism (SSCP) analysis was used to identify sequence variation in all 8 exons and in intron 7 of this locus. We found evidence of substantial polymorphism within this locus, as previously reported [Papapetrou et al., 1999, J Med Genet 36:208-213], and moderately significant evidence of linkage disequilibrium with the CacI polymorphism of exon 8. However, when the locus was considered as a whole, with all single nucleotide polymorphisms (SNPs) integrated into a haplotype, there was no evidence for linkage disequilibrium. In addition, we did not identify any new sequence variants. Thus, we conclude that the T locus is not a major locus for human NTDs in this sample.

Substantial progress in the medical treatment of individuals with spina bifida (SB) has increased the numbers who survive into adolescence and adulthood. However, sexual health in this population has not received much attention. This study explored the knowledge (SB Sexuality Knowledge Scale), worries (SB Worries Scale), romantic appeal (from Harter’s Self-Perception Scale), and access to sexuality information of a sample of 60 adolescents from a midwestern state. Study participants reported having sexual feelings like their peers, and they knew they could contract sexually transmitted diseases (STDs) if they were sexually active. However, only a moderate percentage was aware that women with SB are fertile, that adolescent women with SB should take a multivitamin with folic acid, and that latex-free condoms should be used by most adolescents with SB. They did not worry about their ability to make friends; however, these adolescents reported low levels of perceived romantic appeal and they worried about sexuality issues. These sexuality issues were not correlated to measures of SB neurological severity. Although over 50% reported having discussed sexuality with a health professional, 29% reported no one discussed sexuality and SB with them. Data from this study can affect the way health care providers and educators conduct sexuality education in health care and school settings.

Understanding a care coordination framework, its functions, and its effects on children and families is critical for patients and families themselves, as well as for pediatricians, pediatric medical subspecialists/surgical specialists, and anyone providing services to children and families. Care coordination is an essential element of a transformed American health care delivery system that emphasizes optimal quality and cost outcomes, addresses family-centered care, and calls for partnership across various settings and communities. High-quality, cost-effective health care requires that the delivery system include elements for the provision of services supporting the coordination of care across settings and professionals. This requirement of supporting coordination of care is generally true for health systems providing care for all children and youth but especially for those with special health care needs. At the foundation of an efficient and effective system of care delivery is the patient-/family-centered medical home. From its inception, the medical home has had care coordination as a core element. In general, optimal outcomes for children and youth, especially those with special health care needs, require interfacing among multiple care systems and individuals, including the following: medical, social, and behavioral professionals; the educational system; payers; medical equipment providers; home care agencies; advocacy groups; needed supportive therapies/services; and families. Coordination of care across settings permits an integration of services that is centered on the comprehensive needs of the patient and family, leading to decreased health care costs, reduction in fragmented care, and improvement in the patient/family experience of care.

Neural tube defects (NTD) are one of the most common birth defects and are caused by both environmental and genetic factors. The approach to identifying the genes predisposing to NTD, through linkage analysis and candidate gene analysis, is reviewed along with characteristics of a large, nationally ascertained cohort of families. Results from specific assessments of p53, PAX3 and MTHFR failed to suggest that these genes play a major role in NTD development in these families. Advances in genetic laboratory and statistical techniques have made this a prime opportunity for investigation into the causes of complex disorders, such as NTD. However, traditional approaches may prove to be challenging due to the difficulty of ascertaining samplable multiplex families.

BACKGROUND Neural tube defects (NTDs) are the second most common birth defects, after congenital heart defects. Telomerase, the reverse transcriptase that maintains telomere DNA, has been shown to be important for neural tube development and bilateral symmetry in the brain. In knockout mice null for the telomerase RNA component (TERC), telomere loss results in the failure of neural tube closure, primarily at the forebrain and midbrain. METHODS We investigated TERC for variants that may predispose to human NTDs in 477 NTD cases with a variety of phenotypic presentations. RESULTS Two novel single nucleotide polymorphisms were identified in the human TERC sequence but showed no association with the NTD phenotype. CONCLUSIONS Variants in TERC are unlikely to be a major risk factor for the most common form of human NTDs, lumbosacral myelomeningocele. Birth Defects Research (Part A), 2004. © 2004 Wiley-Liss, Inc.

Background Spina bifida affects one out of every 1200 to 1400 live births each year in the United States. Secondary conditions related to the level of the SB lesion (LOL) such as incontinence, skin breakdown, obesity, pain, and orthopedic problems (e.g., scoliosis) are common. The purpose of this presentation is to address the following questions: 1) What is the frequency of key secondary conditions (bowel/bladder status, skin breakdown, UTIs, pain, overweight, scoliosis, latex allergy)? 2) Are select secondary conditions related to LOL, school, peer or employment activities? 3) How satisfied are participants with their bowel/bladder program and is satisfaction related to clinical variables?

Neural tube defects are a common, complex disorder with genetic and environmental components to risk. We investigated the previously reported interaction between homozygosity for the thermolabile variant at the methylenetetrahydrofolate reductase and heterozygosity for the 844ins68 allele at the cystathionine beta-synthase loci in cases with lumbosacral myelomeningocele and their parents. Using control allele frequencies from our sample pooled with those published in the literature, we confirm a marginally significant interaction at these two loci. This finding suggests that additional, larger studies are warranted to investigate this possible interaction in more detail.

Adolescents with spina bifida (SB) vary in their ability to adapt to the disease, and it is likely that numerous risk and protective factors affect adaptation outcomes. The primary aim was to test neuropsychological impairment, exemplified herein by executive dysfunction, as a risk factor in the Ecological Model of Adaptation for Adolescents with SB. Specific hypotheses were that: (1) executive functioning predicts the adaptation outcome of functional independence in adolescents with SB; (2) executive functioning mediates the impact of neurological severity on functional independence; and (3) family and adolescent protective factors are related to functional independence and moderate the relationship between executive functioning and functional independence. Forty-three adolescents aged 12–21 years completed neuropsychological measures and an interview that assessed risk, adolescent and family protective factors, and functional independence. Age, level of lesion, executive functioning, and the protective factor adolescent activities were significantly correlated with the functional independence outcome. In hierarchical regression analysis, the model accounted for 61% of the variance in functional independence outcomes. Executive functioning mediated the impact of neurological severity on functional independence. (JINS, 2008, 14, 793–804.)

BACKGROUND: NTDs are considered complex disorders that arise from an interaction between genetic and environmental factors. NTD family 8776 is a large multigenerational Caucasian family that provides a unique resource for the genetic analysis of NTDs. Previous linkage analysis using a genome-wide SNP screen in family 8776 with multipoint nonparametric mapping methods identified maximum LOD* scores of ∼3.0 mapping to 2q33.1–q35 and 7p21.1–pter. METHODS: We ascertained an additional nuclear branch of 8776 and conducted additional linkage analysis, fine mapping, and haplotyping. Expression data from lymphoblast cell lines were used to prioritize candidate genes within the minimum candidate intervals. Genomic copy number changes were evaluated using BAC tiling arrays and subtelomeric fluorescent in situ hybridization probes. RESULTS: Increased evidence for linkage was observed with LOD* scores of ∼3.3 for both regions. Haplotype analyses narrowed the minimum candidate intervals to a 20.3 Mb region in 2q33.1–q35 between markers rs1050347 and D2S434, and an 8.3 Mb region in 7p21.1–21.3 between a novel marker 7M0547 and rs28177. Within these candidate regions, 16 genes were screened for mutations; however, no obvious causative NTD mutation was identified. Evaluation of chromosomal aberrations using comparative genomic hybridization arrays, subtelomeric fluorescent in situ hybridization, and copy number variant detection techniques within the 2q and 7p regions did not detect any chromosomal abnormalities. CONCLUSIONS: This large NTD family has identified two genomic regions that may harbor NTD susceptibility genes. Ascertainment of another branch of family 8776 and additional fine mapping permitted a 9.1 Mb reduction of the NTD candidate interval on chromosome 7 and 37.3 Mb on chromosome 2 from previously published data. Identification of one or more NTD susceptibility genes in this family could provide insight into genes that may affect other NTD families. Birth Defects Research (Part A), 2008. © 2008 Wiley-Liss, Inc.

Relationships are much more complex for those with disabilities than for those without disabilities. This study was part of a larger mixed-method investigation that explored comprehensive aspects of adaptation in adolescents with spina bifida (SB). The purpose of this qualitative component of the study was to explore the experiences of peer relationships in 31 adolescent women with SB. The participants were interviewed, and analysis was conducted for common themes. The five major themes and one subtheme were peers without disabilities (subtheme: peers with disabilities), normalization, challenges in peer connectedness, peer connectedness with adults, and romantic connectedness. Whereas some participants voiced close connections with peers, others described prejudices, stereotyping, and limited dating experiences. Results from this study support the need for comprehensive assessment of social relationships in adolescent women with SB and active interventions to address problems identified. Rehabilitation nurses are in a key position to implement social interventions in adolescents and young women with SB.

To describe factors associated with pressure ulcers in individuals with spina bifida (SB) enrolled in the National Spina Bifida Patient Registry (NSBPR).Unbalanced longitudinal multicenter cohort study.Nineteen SB clinics.Individuals with SB (N=3153) enrolled in 19 clinic sites that participate in the NSBPR.Not applicable.Pressure ulcer status (yes/no) at the annual visit between 2009 and 2012.Of 3153 total participants, 19% (n=603) reported ulcers at their most recent annual clinic visit. Seven factors-level of lesion, wheelchair use, urinary incontinence, shunt presence, above the knee orthopedic surgery, recent surgery, and male sex-were significantly associated with the presence of pressure ulcers. Of these factors, level of lesion, urinary incontinence, recent surgery, and male sex were included in the final logistic regression model. The 3 adjusting variables-SB type, SB clinic, and age group-were significant in all analyses (all P.001).By adjusting for SB type, SB clinic, and age group, we found that 7 factors-level of lesion, wheelchair use, urinary incontinence, shunt presence, above the knee orthopedic surgery, recent surgery, and male sex-were associated with pressure ulcers. Identifying key factors associated with the onset of pressure ulcers can be incorporated into clinical practice in ways that prevent and enhance treatment of pressure ulcers in the population with SB.

Of 1,000 births worldwide, in one embryo the neural tube will fail to close properly 28 days after conception, resulting in some form of neural tube defect (NTD). Failed closure at the cranial end, known as anencephaly, is a lethal condition, whereas failed closure at the caudal end usually results in a myelomeningocele. NTDs are the most common debilitating birth defect. Familial studies indicate a significant genetic component to NTDs, with a 40-fold increase in risk in first-degree relatives (Elwood et al. 1992). Myriad environmental exposures have been implicated in the development of NTDs; most notably, a significant decrease in risk can be achieved by maternal folic acid supplementation before conception. The mechanism by which dietary folate supplementation prevents NTDs is poorly understood (MRC Vitamin Study Research Group 1991). Folic acid derivatives are essential for the synthesis of DNA, cell division, tissue growth, and DNA methylation (Morrison et al. 1998). Methylation enables proper gene expression and chromosome structure maintenance, both of which are critical in the developing embryo (Razin and Kantor 2005). The folate and methionine cycles are linked by the conversion of homocysteine to methionine (Figure 1). In the absence of food frequency data, maternal vitamin supplementation can also serve as a proxy for overall health because of the positive correlation between supplement intake, diet, and a healthy lifestyle (Slesinski et al. 1996). Vitamin supplementation is an important cofactor to consider when studying nutritionally related genes. Figure 1 The folate and methionine cycles highlighting the 11 genes included in this study. Substrates are shown in rectangular boxes; enzymes are shown in ellipses. Adapted from Nijhout et al. (2004) and Reed et al. (2004). Substrate abbreviations: AdoHcy, S ... Animal models demonstrate that periconceptional folate supplementation protects against congenital defects in the face, neural tube, and conotruncal region of the heart. Low folate could directly limit its availability to cells or indirectly disrupt methionine metabolism, thereby increasing homocysteine in the maternal serum (Rosenquist and Finnell 2001). Either mechanism implicates folate receptor and methionine–homocysteine regulatory genes. Folate enters cells by folate receptor 1 [FOLR1; GenBank accession no. {"type":"entrez-nucleotide","attrs":{"text":"NM_016725","term_id":"262331571","term_text":"NM_016725"}}NM_016725 (http://www.ncbi.nih.gov/GenBank)] and folate receptor 2 (FOLR2; GenBank accession no. {"type":"entrez-nucleotide","attrs":{"text":"NM_000803","term_id":"166064049","term_text":"NM_000803"}}NM_000803) or carrier-mediated internalization by solute carrier family 19 member 1(SLC19A1; GenBank accession no. {"type":"entrez-nucleotide","attrs":{"text":"U15939","term_id":"1222522","term_text":"U15939"}}U15939), also known as reduced folate carrier protein 1. Transcobalamin II (TCN2; GenBank accession no. {"type":"entrez-nucleotide","attrs":{"text":"NM_000355","term_id":"296080702","term_text":"NM_000355"}}NM_000355) imports vitamin B12, cobalamin, a cofactor for another folate enzyme, 5-methyltetrahydrofolate-homocys-teine methyltransferase (MTR; GenBank accession no. {"type":"entrez-nucleotide","attrs":{"text":"NM_000254","term_id":"169790922","term_text":"NM_000254"}}NM_000254).The reactions within the folate metabolism cycle can be very complex, with methylenetetrahydrofolate dehydrogenase 1 (MTHFD1; GenBank accession no. {"type":"entrez-nucleotide","attrs":{"text":"J04031","term_id":"187464","term_text":"J04031"}}J04031), serine hydroxymethyl-tranferase 1 (SHMT1; GenBank accession no. {"type":"entrez-nucleotide","attrs":{"text":"NM_004169","term_id":"528881072","term_text":"NM_004169"}}NM_004169), and 5,10-methylenetetrahy-drofolate reductase (MTHFR ; GenBank accession no. {"type":"entrez-nucleotide","attrs":{"text":"NM_005957","term_id":"260898771","term_text":"NM_005957"}}NM_005957) being widely studied in the NTD literature. MTHFR rs1801133 is the most frequently investigated polymorphism in NTDs with conflicting results in different populations: Dutch and Irish populations associate the TT allele with risk (Shields et al. 1999; van der Put et al. 1995), whereas a protective effect is seen in Italians (De Marco et al. 2002) and other populations have no evidence of association (Gonzalez-Herrera et al. 2002; Revilla et al. 2003; Stegmann et al. 1999). This polymorphism also has a confirmed role heart disease (Frosst et al. 1995). Homocysteine can accumulate from low dietary folate, cobalamin, and/or genetic factors (Morrison et al. 1998; Ramsbottom et al. 1997) and is elevated in some NTD mothers (Mills et al. 1995; Steegers-Theunissen et al. 1994). Homocysteine itself may be teratogenic (Rosenquist et al. 1996) or impair substrates for methylation reactions (Essien and Wannberg 1993). Enzymes that degrade homocysteine regulate homocysteine levels; for example, MTR converts homocysteine to methionine and folate to tetrahydrofolate (Trembath et al. 1999). 5-Methyltetrahydrofolate-homocysteine methyltransferase reductase (MTRR; GenBank accession no. {"type":"entrez-nucleotide","attrs":{"text":"AF025794","term_id":"2981302","term_text":"AF025794"}}AF025794) maintains MTR in its active state. Betaine-homocysteine methyltransferase (BHMT; GenBank accession no. {"type":"entrez-nucleotide","attrs":{"text":"BC012616","term_id":"15214971","term_text":"BC012616"}}BC012616) remethylates homocysteine to methionine with a betaine cofactor (Morin et al. 2003). Cystathionine-betasynthase (CBS; GenBank accession no. {"type":"entrez-nucleotide","attrs":{"text":"NM_000071","term_id":"209862802","term_text":"NM_000071"}}NM_000071) controls homocysteine levels by degrading homocysteine into cystathionine (Morrison et al. 1998). Detecting moderate effects of multiple folate genes will be particularly difficult if they are interactive or additive with environmental impacts (Morrison et al. 1998). This complex pathway has several known metabolic interactions, such as MTRR maintaining MTR in an active state. Previous studies found an association of MTHFR and MTRR (Gueant-Rodriguez et al. 2003; Wilson et al. 1999) plus CBS and the MTHFR thermolabile variant with NTDs (Afman et al. 2003; Ramsbottom et al. 1997; Speer et al. 1999). Thus, genes involved in folate metabolism are compelling candidates for NTDs, from both a genetic and an environmental perspective.

The development of self-management skills by adolescents with myelomeningocele is an ongoing process. Previous studies lack consensus about what data can be accurately obtained from adolescents. This cross-sectional study using a convenience sample of 66 adolescent-parent dyads evaluated whether adolescents with myelomeningocele and their parents are interchangeable reporters of data. Adolescents' ages ranged from 12 to 21 years with a mean of 16 years 2 months (SD 2y 8mo); 38 were female, 28 were male; 30% had thoracic lesions, 32% had lumbar lesions, 15% had lumbosacral lesions, 23% had sacral lesions, and 85% had ventriculoperitoneal shunts. In this analysis, participants reported activities (decision-making, household responsibility, and friendship activities) and select outcomes (functional status, self-management, and social competence) similarly. However, differences emerged in reports of beliefs (adolescent future expectations, family variables) and select developmental competencies (school, job, athletic, behavioral, attractiveness, and romantic appeal). Analysis using t-test and interclass correlations supported a pattern of adolescent-parent agreement in areas of observable behavior and differences in more subjective domains such as perception of developmental competencies.

The Carnegie Council on Adolescent Development, USA has identified activities, beliefs, and perceptions critical for healthy development. The aim of this study was to measure the activities, beliefs and expectations, and perceived outcomes of adolescents with myelomeningocele. In this descriptive study, 66 adolescents with myelomeningocele, aged 12 to 21 years and functioning at grade level, completed a structured interview. Thirty-eight (58%) of the participants were female. The level of lesion was distributed as follows: 30% had thoracic level lesions, 32% had lumbar level lesions, 15% had lumbosacral level lesions, and 23% of the sample had sacral level lesions. Instruments used had both established reliability and validity (WeeFIM, Harter's Self-Perception Profile, Austin's Child Attitude Toward Illness Scale, and Snyder's Hope Scale, Adolescent Decision-Making Inventory, Adolescent Coping Scale) or were scales developed for this study (Adolescent Activities Inventory, Future Expectations Scale, Communication Efficacy, and Adolescent Self-Management and Independence Scale). Scale reliabilities ranged from 0.70 to 0.88. These participants, though hopeful and positive in their attitudes toward myelomeningocele and generally able to perform activities of daily living independently, are not engaging in the full range of adolescent activities (decision making, friendship activities, and household responsibilities) and achieving positive outcomes (self-management and job) necessary to make a successful transition to adulthood. This might explain why so many individuals with myelomeningocele are underemployed and are not living independently as young adults.

Parents of adolescents with spina bifida (SB) face unique challenges of which they may not be aware. The purpose of this study was to heighten awareness of the challenge of parenting such adolescents. This enhanced understanding can help rehabilitation professionals optimize their interventions with families. In this qualitative study, which was part of a larger mixed-method descriptive investigation exploring adaptation by adolescents with SB, we used content analysis to evaluate 20 parent interviews for common domain, themes, and subthemes. The analysis yielded four major domains: (a) daily life experiences, (b) the dance of individuation, (c) reflections on parenting, and (d) practice suggestions for healthcare professionals. Overall, experiences of the parents were positive. Parents described meeting daily demands and balancing independence-dependence needs with the adolescent as major challenges. Rehabilitation professionals must provide guidance to foster autonomy, decision making, cognitive skill building, and coping skills to help parents and adolescents manage independence-dependence issues and multiple life demands.

Adolescents with spina bifida (SB), a congenital spinal cord impairment, are at high risk for negative outcomes. Even those with favorable cognitive status often fail to achieve independence, exhibiting poor functional and psychosocial outcomes. The purpose of this study was to examine the relationship between adaptation outcomes (functional status, self-management, and developmental competence) and SB condition-specific, adolescent protective factors, and family protective factors in a sample of adolescents with SB. Individual, interpersonal, and social developmental competence were explored. Sixty-six adolescent/parent pairs were interviewed. Data analysis included descriptive statistics, Cronbach alpha coefficients, and partial correlations controlling for age. All instruments had acceptable reliabilities. Factors associated with outcomes generally fell into two patterns. SB condition-specific variables and adolescent activities (e.g., decision-making, household responsibilities) were related to functional status, self-management, and social competence. In contrast, adolescent beliefs (hope, attitude, and communication efficacy) were predominantly related to individual, interpersonal, and overall developmental competence.

Information is reviewed on the ophthalmologic findings in 614 individuals with Rubinstein-Taybi syndrome (RTS): The data were collected from the world literature, from communication with colleagues and with families of individuals with RTS, and from personal observations. Particular emphasis is given in this article to the association of RTS with glaucoma and five other findings that may be confused with glaucoma (corneal lesions, megalocomea, colobomatous or cystic optic nerve, excavation of papilla, and large cup-to-disc ratio). A case report is presented including autopsy results on a 5-year- old black female with RTS, corneal lesions, colobomas of the optic nerves, and normal intraocular pressure.

Data indicate that many youths with CHC, even those who have typical intelligence but have a CHC that is impacted by mobility and learning disabilities, lag behind their peers in both condition management (e.g., knowledge of condition, managing medication, complication prevention) andskills related to theirCHCneeded for independent living as a adult (eg., making appointments, ordering medication/supplies, managing money, managing transportation). Some researchers have proposed that overprotection and low family expectations contribute to delayed achievement of these tasks. This was an IRB-approved descriptive study. A subset of families (n = 50) who had youths age 14-25 (M = 17.3, SD = 2.6) with spina bifida participated in a follow-up descriptive study which included youths and parent computer-assisted telephone interviews. The instrument used for this study was the17-item Adolescent/Young Adult Self-Management and Independence Scale (AMIS II). This interviewer-rated instrument has two subscales, Condition-Management and Independent Living (ILS). Preliminary evidence from our study and others support the internal, test-retest, and inter-rater reliability, as well as content, construct, and criterion validity. Youths were 58% female, 95% were living with parents, 81% had ventriculoperitoneal shunt. Parents report a mean expectation of 17.2 years of age (SD = 3.8, range 10-25) for Condition Subscale behaviors