Fetal Endoscopic Surgery for Spina Bifida

ClinicalTrials.gov

2017-10-16

Neural Tube Defects; Spina Bifida, Open; Myelomeningocele; Fetal Disease; Hydrocephalus; Chiari Malformation Type 2; Congenital Abnormality; Surgery; Maternal, Uterus or Pelvic Organs, Affecting Fetus

Spina Bifida

PubMed Central

Copp, Andrew J.; Adzick, N. Scott; Chitty, Lyn S.; Fletcher, Jack M.; Holmbeck, Grayson N.; Shaw, Gary M.

2016-01-01

Spina bifida is a birth defect in which the vertebral column is open (bifid), often with spinal cord involvement. Clinically most significant is myelomeningocele (MMC; open spina bifida) in which the spinal neural tube fails to close during embryonic development. The exposed neural tissue degenerates in utero, resulting in neurological deficit that varies with level of the lesion. Occurring in around 1 per 1000 births worldwide, MMC is one of the commonest congenital malformations, yet its causation is largely unknown. The genetic component of MMC is estimated at 60-70% but few genes have yet been identified, despite much information from mouse models. Non-genetic risk factors include reduced folate intake, maternal anticonvulsant therapy, diabetes mellitus and obesity. Primary prevention by peri-conceptional folic acid has been demonstrated in clinical trials, leading to food fortification programmes in many countries. Prenatal diagnosis is by ultrasound enabling termination of pregnancy. Individuals who survive to birth have their lesions closed surgically, with subsequent management of associated defects, including the Chiari II malformation, hydrocephalus, and urological and orthopaedic sequelae. Fetal surgical repair of MMC has been associated with improved early neurological outcome compared with postnatal operation. MMC affects quality of life during childhood, adolescence, and into adulthood, posing a challenge for individuals, families and society as a whole. PMID:27189655

Trajectories of autonomy development across the adolescent transition in children with spina bifida.

PubMed

Friedman, Deborah; Holmbeck, Grayson N; DeLucia, Christian; Jandasek, Barbara; Zebracki, Kathy

2009-02-01

The current study investigated individual growth in autonomy development across the adolescent transition, comparing the trajectories of children with and without spina bifida. Individual growth curve modeling procedures were utilized to describe the developmental course of autonomy across four waves of data collection, from ages 9 to 15, and to test whether illness status [spina bifida vs. matched comparison group (N = 68 for both groups at Time 1)] would significantly predict individual variability in autonomy development. Potential moderators [child gender, SES, and Peabody Picture Vocabulary Test (PPVT) score] of the association between illness status and autonomy development were also examined. Children with spina bifida demonstrated distinct developmental trajectories, though the nature of the group differences varied by type of autonomy development (emotional vs. behavioral), context (i.e. school vs. family), and reporter. Significant interactions with PPVT score and child gender were found. Overall, children with spina bifida show considerable developmental resiliency, but may lag behind their peers in specific areas of autonomy. Boys with spina bifida, and children with spina bifida who have lower than average levels of verbal intelligence, appear to be at greater risk for exhibiting delays in autonomy development.

Spina Bifida Data and Statistics

MedlinePlus

... who had public insurance only. [ Read article summary ] Quality of Life Researchers studied the physical and psychological health and ... group two years later, comparing the health-related quality of life of children and young people with spina bifida ...

Spina Bifida: General Information. Fact Sheet Number 12 = La Espina Bifida: Informacion General. Fact Sheet Number 12.

ERIC Educational Resources Information Center

National Information Center for Children and Youth with Disabilities, Washington, DC.

This fact sheet offers definitions of the three types of spina bifida, outlines their incidence, describes characteristics of individuals with spina bifida, and reviews educational implications. The fact sheet emphasizes that school programs should be flexible to accommodate these students' special needs and frequent absences, that children with…

Psychological and Educational Studies with Spina Bifida Children. Final Report.

ERIC Educational Resources Information Center

Diller, Leonard; And Others

To measure school achievements in spina bifida children, to relate these measures to certain variables, to obtain information on educational problems, and to study facets of cognition and its changes with age, 77 spina bifida children and 53 amputees (all aged 5 to 15) were tested. Sixty non-disabled children were at times used for controls. The…

Medical adherence in young adolescents with spina bifida: longitudinal associations with family functioning.

PubMed

Stepansky, Mona A; Roache, Caitlin R; Holmbeck, Grayson N; Schultz, Karen

2010-03-01

The purpose of this study was 2-fold: (1) to explore the transfer of responsibility of medical tasks from parent to child during the transition to adolescence, and (2) to examine the associations between family functioning and medical adherence in youth with spina bifida. Seventy families of children with spina bifida participated in this study. Data were collected during family interaction sessions by using questionnaires completed by mothers, fathers, youth, teachers and health professionals. Findings suggest that responsibility for medical regimens transfers gradually from parent to child over time. Additionally, family conflict and cohesion were correlated with medical adherence. Finally, family conflict over medical issues was related to a decrease in medical adherence over time. Results suggest that as youth take more responsibility over their medical regimens, family conflict regarding medical issues becomes a contributor to their adherence behaviors. Interventions that target family conflict may facilitate adherence behaviors.

Perspectives of school-work transitions among youth with spina bifida, their parents and health care providers.

PubMed

Lindsay, Sally; McPherson, Amy C; Maxwell, Joanne

2017-04-01

Purpose Youth with disabilities encounter many challenges in finding employment and transitioning to post-secondary education. In this article, we explore the nature of school-work transitions for youth with spina bifida, which few studies have previously addressed. Method We conducted in-depth interviews with 44 participants (nine youth and 12 young adults with spina bifida, 11 parents and 12 clinicians). We analyzed our data using a qualitative content analysis approach. Results We identified several enablers to school-work transitions, including professional support, social support and school accommodations. Lacking such support created several challenges for youth with spina bifida. We also identified several barriers to school-work transitions, including lack of education and information on finances, housing and transportation; discrimination and stigma; and challenges coping with spina bifida at school and work. Conclusions Although some supports are available, youth with spina bifida encounter many challenges in transitioning to post-secondary education and employment. With clinicians at the helm, efforts should be put in place within the health and social services system to better prepare youth, as they transition to adulthood, to become connected to appropriate information and resources to help them to succeed in their school and employment goals. Implications for Rehabilitation Youth with spina bifida encounter many challenges in transitioning to post-secondary education or work. Clinicians, educators and parents should continue to support youth with spina bifida in choosing their vocations, setting career goals and developing career plans. Starting from a young age, parents, clinicians and educators should help youth with spina bifida prepare for school work transitions by fostering their independence, life skills and self-management of spina bifida-related symptoms. Clinicians and educators should help connect youth with spina bifida to appropriate

Health care expenditures of children and adults with spina bifida in a privately insured U.S. population.

PubMed

Ouyang, Lijing; Grosse, Scott D; Armour, Brian S; Waitzman, Norman J

2007-07-01

We provide new estimates of medical care utilization and expenditures over the lifespan for persons living with spina bifida in the United States. Updated estimates are essential for calculations of lifetime costs and for economic evaluations of prevention and management strategies for spina bifida. We analyzed data from the 2001-2003 MarketScan database on paid medical and prescription drug claims of persons covered by employer-sponsored health insurance in the United States. Medical care utilization and expenditures during 2003 were analyzed for persons with a diagnosis of spina bifida recorded during 2001-2003 who had 12 months of coverage in a fee-for-service health plan. To calculate expenditures during infancy, a separate analysis was performed for those born during 2002 with claims and expenditures data during the first 12 months of life. We compared medical expenditures for persons with and without spina bifida by age groups. Average incremental medical expenditures comparing patients with spina bifida and those without were $41,460 per year at age 0, $14,070 at ages 1-17, $13,339 at ages 18-44, and $10,134 at ages 45-64. Children ages 1-17 years with spina bifida had average medical expenditures 13 times greater than children without spina bifida. Adults with spina bifida had average medical expenditures three to six times greater than adults without spina bifida in this privately insured population. Although per capita medical care utilization and expenditures are highest among children, adults constitute an important and growing share of the population living with spina bifida. (c) 2007 Wiley-Liss, Inc.

Pregnancy outcome and complications in women with spina bifida.

PubMed

Arata, M; Grover, S; Dunne, K; Bryan, D

2000-09-01

To describe the antenatal complications, mode of delivery and outcome of pregnancy in women with spina bifida. Case series of women known to have attended the spina bifida clinic at the Royal Children's Hospital. Medical records, postal questionnaire and telephone interview were utilized to collect data on the effect of pregnancy on the health of women and the effect of spina bifida on pregnancy outcome. Of 207 women born between 1945 and 1975, 23 reported having a pregnancy, and 17 who had completed pregnancies agreed to participate. The 17 women had a total of 29 pregnancies, with 23 pregnancies progressing to births. Fourteen of 17 women had antenatal admissions, with wheelchair-dependent women requiring more-frequent and longer admissions. Recurrent urinary infections in pregnancy occurred in women with a prior history of urinary infections; stomal problems occurred but were not serious; mobility was reduced for two women during pregnancy, with full recovery afterwards; and preexisting pressure sores worsened during pregnancy. Vaginal deliveries occurred in one in five pregnancies of women who were wheelchair dependent and in ten of eighteen pregnancies in independently mobile women, including seven of eight pregnancies of independently mobile women without ileal conduits. Cesarean sections were accompanied by postoperative complications in 10 women. Women with spina bifida who become pregnant generally have a positive outcome, with relatively low complication rates.

Work Participation among Young Adults with Spina Bifida in the Netherlands

ERIC Educational Resources Information Center

Van Mechelen, M. C.; Verhoef, M.; Van Asbeck, F. W. A.; Post, M. W. M.

2008-01-01

The aim of this study was to: (1) assess work participation among young adults with spina bifida, (2) identify problems perceived in finding employment, and (3) examine which determinants are related to work participation. This cross-sectional study was a follow-up study to the Adolescents with SPina bifida In the Netherlands (ASPINE) study. Data…

Differences between the events preceding spina bifida and anencephaly.

PubMed

James, W H

1981-02-01

It is usually held that there is a time continuum in the formation of monoxygotic (MZ) twins which is indexed by their placentation, running from dichorionic to monochorionic diamniotic to monochorionic monoamniotic and conjoined pairs. There is good evidence that this continuum is characterised by a continuum of predisposition to anencephaly, slightly raised in dichorionic pairs but very high in some sorts of conjoined pairs. Although MZ twins, especially monoamniotic and conjoined pairs, are peculiarly liable to anencephaly, they are not particularly susceptible to spina bifida. Among twin pairs concordant for anencephaly or spina bifida, there are strikingly few concordant in the sense of one twin having anencephaly and the other spina bifida, in contrast with the numbers of pairs concordant for the same malformation. The prevalence of anencephaly in double monsters varies with the type of monster, being high in diprosopus. These findings may be explained by the timing of embryonic events.

Differences between the events preceding spina bifida and anencephaly.

PubMed Central

James, W H

1981-01-01

It is usually held that there is a time continuum in the formation of monoxygotic (MZ) twins which is indexed by their placentation, running from dichorionic to monochorionic diamniotic to monochorionic monoamniotic and conjoined pairs. There is good evidence that this continuum is characterised by a continuum of predisposition to anencephaly, slightly raised in dichorionic pairs but very high in some sorts of conjoined pairs. Although MZ twins, especially monoamniotic and conjoined pairs, are peculiarly liable to anencephaly, they are not particularly susceptible to spina bifida. Among twin pairs concordant for anencephaly or spina bifida, there are strikingly few concordant in the sense of one twin having anencephaly and the other spina bifida, in contrast with the numbers of pairs concordant for the same malformation. The prevalence of anencephaly in double monsters varies with the type of monster, being high in diprosopus. These findings may be explained by the timing of embryonic events. PMID:7019447

MATHEMATICAL DEVELOPMENT IN SPINA BIFIDA

PubMed Central

English, Lianne H.; Barnes, Marcia A.; Taylor, Heather B.; Landry, Susan H.

2011-01-01

Spina bifida (SB) is a neural tube defect diagnosed before or at birth that is associated with a high incidence of math disability often without co-occurring difficulties in reading. SB provides an interesting population within which to examine the development of mathematical abilities and disability across the lifespan and in relation to the deficits in visual-spatial processing that are also associated with the disorder. An overview of math and its cognitive correlates in preschoolers, school-age children and adults with SB is presented including the findings from a longitudinal study linking early executive functions in infancy to the development of later preschool and school age math skills. These findings are discussed in relation to socio-historical perspectives on math education and implications for intervention and directions for further research are presented. PMID:19213013

Living with Spina Bifida (at different ages)

MedlinePlus

... School-Aged Adolescents & Teens Young Adults Videos My Story Data and Statistics Research & Tracking Spina Bifida Patient Registry Clinic Map Findings from Patient Registry Articles & Key Findings Free ...

Social Implications of Spina Bifida.

ERIC Educational Resources Information Center

Woodburn, Margaret

Investigated in Southeast Scotland were the social and practical problems faced by the parents of 86 children (ages 18 months to 38 years) with spina bifida, 74 of whom were classified as myelomeningoceles (a more serious condition involving malformation of the spinal cord). Questionnaires and interviews were used to gather information in the…

Urologic Management of Spina Bifida

ERIC Educational Resources Information Center

Clayton, Douglass B.; Brock, John W., III; Joseph, David B.

2010-01-01

The urologist plays an important role in the multidisciplinary team of physicians who provide care for patients with spina bifida. We review common strategies for managing the urinary tract in these patients. The primary objective in all phases of life is protecting kidney function by minimizing bladder hostility and establishing a good capacity,…

Orthopedic Management of Spina Bifida

ERIC Educational Resources Information Center

Thomson, Jeffrey D.; Segal, Lee S.

2010-01-01

The management of orthopedic problems in spina bifida has seen a dramatic change over the past 10 years. The negative effects of spasticity, poor balance, and the tethered cord syndrome on ambulatory function are better appreciated. There is less emphasis on the hip radiograph and more emphasis on the function of the knee and the prevention of…

Risky business: Preventing skin breakdown in children with spina bifida.

PubMed

Ekmark, Elaine McGarr

2009-01-01

The purpose of this article is to provide an overview of skin issues in children with spina bifida. Included in the discussion below is a review of the etiology of pressure ulcers and the updated 2007 pressure ulcer definition and pressure ulcer staging system as defined by the National Pressure Ulcer Advisory Panel (NPUAP). Pediatric risk factors for skin breakdown are presented including risk factors unique to children with spina bifida. Pediatric pressure ulcer risk assessment scales are described. The 5 Million Lives Kids' Campaign which has a focus on preventing hospital-acquired pressure ulcers in children is also reviewed along with evidence based prevention strategies. The key to preventing skin breakdown and pressure ulcers in children with spina bifida is early identification of the child's individual risk factors so that a prevention protocol can be implemented in all settings: hospital, home and the community. Options for wound management, dressing selection and pain management are included.

Cognitive Abilities of Pre- and Primary School Children with Spina Bifida in Uganda

ERIC Educational Resources Information Center

Bannink, Femke; Fontaine, Johnny R. J.; Idro, Richard; van Hove, Geert

2016-01-01

This study investigates cognitive abilities of pre/primary school children without and with spina bifida in Uganda. Qualitative semi structured interviews and quantitative functioning scales measurements were combined and conducted with 133 parents, 133 children with spina bifida, and 35 siblings. ANCOVA was used to test for differences in…

Hospitalization for urinary tract infections and the quality of preventive health care received by people with spina bifida.

PubMed

Armour, Brian S; Ouyang, Lijing; Thibadeau, Judy; Grosse, Scott D; Campbell, Vincent A; Joseph, David

2009-07-01

The preventive health care needs of people with disabilities often go unmet, resulting in medical complications that may require hospitalization. Such complications could be due, in part, to difficulty accessing care or the quality of ambulatory care services received. To use hospitalizations for urinary tract infections (UTIs) as a marker of the potential quality of ambulatory care services received by people affected by spina bifida. MarketScan inpatient and outpatient medical claims data for 2000 through 2003 were used to identify hospitalizations for UTI, which is an ambulatory care sensitive condition, for people affected by spina bifida and to calculate inpatient discharge rates, average lengths of stay, and average medical care expenditures for such hospitalizations. People affected by spina bifida averaged 0.5 hospitalizations per year, and there were 22.8 inpatient admissions with UTI per 1000 persons with spina bifida during the period 2000-2003, in comparison to an average of 0.44 admission with UTI per 1000 persons for those without spina bifida. If the number of UTI hospitalizations among people affected by spina bifida were reduced by 50%, expenditures could be reduced by $4.4 million per 1000 patients. Consensus on the evaluation and management of bacteriuria could enhance clinical care and reduce the disparity in UTI discharge rates among people affected by spina bifida compared to those without spina bifida. National evidence-based guidelines are needed.

Optimizing health care for adults with spina bifida.

PubMed

Webb, Thomas S

2010-01-01

Survival into adulthood for individuals with spina bifida has significantly improved over the last 40 years with the majority of patients now living as adults. Despite this growing population of adult patients who have increased medical needs compared to the general population, including spina bifida (SB)-specific care, age-related secondary disabilities, and general adult medical needs, there is little published information about the natural history of SB in adulthood. There are few published studies of medical conditions, interventions, or long-term complications in this population. This article will provide a review of the medical issues of adults with SB, highlighting areas that are different than pediatric care, and areas of needed research.

Interhemispheric Effective and Functional Cortical Connectivity Signatures of Spina Bifida Are Consistent with Callosal Anomaly

PubMed Central

Malekpour, Sheida; Li, Zhimin; Cheung, Bing Leung Patrick; Castillo, Eduardo M.; Papanicolaou, Andrew C.; Kramer, Larry A.; Fletcher, Jack M.

2012-01-01

Abstract The impact of the posterior callosal anomalies associated with spina bifida on interhemispheric cortical connectivity is studied using a method for estimating cortical multivariable autoregressive models from scalp magnetoencephalography data. Interhemispheric effective and functional connectivity, measured using conditional Granger causality and coherence, respectively, is determined for the anterior and posterior cortical regions in a population of five spina bifida and five control subjects during a resting eyes-closed state. The estimated connectivity is shown to be consistent over the randomly selected subsets of the data for each subject. The posterior interhemispheric effective and functional connectivity and cortical power are significantly lower in the spina bifida group, a result that is consistent with posterior callosal anomalies. The anterior interhemispheric effective and functional connectivity are elevated in the spina bifida group, a result that may reflect compensatory mechanisms. In contrast, the intrahemispheric effective connectivity is comparable in the two groups. The differences between the spina bifida and control groups are most significant in the θ and α bands. PMID:22571349

Implementation of an inter-agency transition model for youth with spina bifida.

PubMed

Lindsay, S; Cruickshank, H; McPherson, A C; Maxwell, J

2016-03-01

To address gaps in transfer of care and transition support, a paediatric hospital and adult community health care centre partnered to implement an inter-agency transition model for youth with spina bifida. Our objective was to understand the enablers and challenges experienced in the implementation of the model. Using a descriptive, qualitative design, we conducted semi-structured interviews, in-person or over the phone, with 12 clinicians and nine key informants involved in implementing the spina bifida transition model. We recruited all 21 participants from an urban area of Ontario, Canada. Clinicians and key informants experienced several enablers and challenges in implementing the spina bifida transition model. Enablers included dedicated leadership, advocacy, funding, inter-agency partnerships, cross-appointed staff and gaps in co-ordinated care to connect youth to adult services. Challenges included gaps in the availability of adult specialty services, limited geographical catchment of adult services, limited engagement of front-line staff, gaps in communication and role clarity. Although the transition model has realized some initial successes, there are still many challenges to overcome in transferring youth with spina bifida to adult health care and transitioning to adulthood. © 2015 John Wiley & Sons Ltd.

Perception of secondary conditions in adults with spina bifida and impact on daily life.

PubMed

Wagner, Robert; Linroth, Ronna; Gangl, Candice; Mitchell, Nancy; Hall, Michelle; Cady, Rhonda; Christenson, Matthew

2015-10-01

Spina bifida is a congenital defect of the neural tube resulting in motor and sensory disruption. Persons with spina bifida can also experience executive function impairments. Secondary conditions are physical, medical, cognitive, emotional, or psychosocial consequences to which persons with disabilities are more susceptible. Our experience suggested clinicians underappreciate the presence and impact of secondary conditions in adults with spina bifida because they do not specifically ask for this information. Describe the presence and impact of secondary conditions on daily life, as perceived by adults with spina bifida. A clinic-based sample was recruited from the active patient population of an adult specialty center for spina bifida-related care. All subjects were verbally administered a survey developed through literature review and clinical experience of the researchers. The survey measured the presence and perceived impact of secondary conditions. Recruitment and survey data collection occurred over a 6-month period to maximize age representation. Survey data were stratified by age, gender and lesion level for analysis. Seventy-two respondents completed the survey. Pain was commonly reported, along with pressure ulcers, bowel & bladder concerns, depression, sleep disturbance, and limited social and community participation. No significant relationships were found between the presence or perceived impact of secondary conditions and age, gender or level of lesion. Secondary conditions in spina bifida are present by early adulthood. Identifying these conditions during clinical encounters requires specific rather than general questions. Future study should evaluate earlier initiation of preventative measures by pediatric providers. Copyright © 2015 Elsevier Inc. All rights reserved.

Characteristics and survival of patients with end stage renal disease and spina bifida in the United States renal data system.

PubMed

Ouyang, Lijing; Bolen, Julie; Valdez, Rodolfo; Joseph, David; Baum, Michelle A; Thibadeau, Judy

2015-02-01

We describe the characteristics, treatments and survival of patients with spina bifida in whom end stage renal disease developed from 2004 through 2008 in the United States Renal Data System. We used ICD-9-CM code 741.* to identify individuals with spina bifida using hospital inpatient data from 1977 to 2010, and physician and facility claims from 2004 to 2008. We constructed a 5:1 comparison group of patients with end stage renal disease without spina bifida matched by age at first end stage renal disease service, gender and race/ethnicity. We assessed the risk of mortality and of renal transplantation while on dialysis using multivariate cause specific proportional hazards survival analysis. We also compared survival after the first renal transplant from the first end stage renal disease service to August 2011. We identified 439 patients with end stage renal disease and spina bifida in whom end stage renal disease developed at an average younger age than in patients without spina bifida (41 vs 62 years, p <0.001) and in whom urological issues were the most common primary cause of end stage renal disease. Compared to patients with end stage renal disease without spina bifida those who had spina bifida showed a similar mortality hazard on dialysis and after transplantation. However, patients with end stage renal disease without spina bifida were more likely to undergo renal transplantation than patients with spina bifida (HR 1.51, 95% CI 1.13-2.03). Hospitalizations related to urinary tract infections were positively associated with the risk of death on dialysis in patients with end stage renal disease and spina bifida (HR 1.42, 95% CI 1.33-1.53). Spina bifida was not associated with increased mortality in patients with end stage renal disease on dialysis or after renal transplantation. Proper urological and bladder management is imperative in patients with spina bifida, particularly in adults. Copyright © 2015 American Urological Association Education and

Genetic variation in biotransformation enzymes, air pollution exposures, and risk of spina bifida.

PubMed

Padula, Amy M; Yang, Wei; Schultz, Kathleen; Lurmann, Fred; Hammond, S Katharine; Shaw, Gary M

2018-05-01

Spina bifida is a birth defect characterized by incomplete closure of the embryonic neural tube. Genetic factors as well as environmental factors have been observed to influence risks for spina bifida. Few studies have investigated possible gene-environment interactions that could contribute to spina bifida risk. The aim of this study is to examine the interaction between gene variants in biotransformation enzyme pathways and ambient air pollution exposures and risk of spina bifida. We evaluated the role of air pollution exposure during pregnancy and gene variants of biotransformation enzymes from bloodspots and buccal cells in a California population-based case-control (86 cases of spina bifida and 208 non-malformed controls) study. We considered race/ethnicity and folic acid vitamin use as potential effect modifiers and adjusted for those factors and smoking. We observed gene-environment interactions between each of the five pollutants and several gene variants: NO (ABCC2), NO 2 (ABCC2, SLC01B1), PM 10 (ABCC2, CYP1A1, CYP2B6, CYP2C19, CYP2D6, NAT2, SLC01B1, SLC01B3), PM 2.5 (CYP1A1 and CYP1A2). These analyses show positive interactions between air pollution exposure during early pregnancy and gene variants associated with metabolizing enzymes. These exploratory results suggest that some individuals based on their genetic background may be more susceptible to the adverse effects of pollution. © 2018 Wiley Periodicals, Inc.

Factors Associated with Mobility Outcomes in a National Spina Bifida Patient Registry

PubMed Central

Dicianno, Brad E.; Karmarkar, Amol; Houtrow, Amy; Crytzer, Theresa M.; Cushanick, Katelyn M.; McCoy, Andrew; Wilson, Pamela; Chinarian, James; Neufeld, Jacob; Smith, Kathryn; Collins, Diane M.

2017-01-01

Objective To provide descriptive data on ambulatory ability and muscle strength in a large cohort of individuals with spina bifida enrolled in a National Spina Bifida Patient Registry (NSBPR) and to investigate factors associated with ambulatory status. Design Cross-sectional analysis of data from a multi-site patient registry Results Descriptive analysis of mobility variables for 2604 individuals with spina bifida age 5 and above are presented from 19 sites in the United States. Analysis of a subset of NSBPR data from 380 individuals from three sites accompanied by data from a specialized spina bifida electronic medical record revealed that those with no history of a shunt, lower motor level, and no history of hip or knee contracture release surgery were more likely to be ambulatory at the community level than at the household or wheelchair level. Conclusion This study is the first to examine factors associated with ambulatory status in a large sample of individuals with myelomeningocele and non-myelomeningocele subtypes of SB. Results of this study delineate the breadth of strength and functional abilities within the different age groups and subtypes of SB. The results may inform clinicians of the characteristics of those with varying ambulatory abilities. PMID:26488146

The longest faun tail forming dreadlocks with underlying spina bifida occulta.

PubMed

Brar, Balvinder Kaur; Mahajan, Bharat Bhushan; Mittal, Jyotisterna

2013-04-15

Spina bifida is a developmental anomaly characterized by defective closure of the bony encasement of the spinal cord through which the spinal cord and meninges may or may not protrude. We report a rare case of a very long faun tail, which was in the form of a 20 inch long tail originating from the lumbosacral area in a rhomboidal pattern, measuring 10 x 8 inches. The case is being reported for its rare presentation of a 20 inch long faun tail with underlying spina bifida occulta.

Labor market productivity costs for caregivers of children with spina bifida: a population-based analysis.

PubMed

Tilford, John M; Grosse, Scott D; Goodman, Allen C; Li, Kemeng

2009-01-01

Caregiver productivity costs are an important component of the overall cost of care for individuals with birth defects and developmental disabilities, yet few studies provide estimates for use in economic evaluations. This study estimates labor market productivity costs for caregivers of children and adolescents with spina bifida. Case families were recruited from a state birth defects registry in Arkansas. Primary caregivers of children with spina bifida (N = 98) reported their employment status in the past year and demographic characteristics. Controls were abstracted from the Current Population Survey covering the state of Arkansas for the same time period (N = 416). Estimates from regression analyses of labor market outcomes were used to calculate differences in hours worked per week and lifetime costs. Caregivers of children with spina bifida worked an annual average of 7.5 to 11.3 hours less per week depending on the disability severity. Differences in work hours by caregivers of children with spina bifida translated into lifetime costs of $133,755 in 2002 dollars using a 3% discount rate and an age- and sex-adjusted earnings profile. Including caregivers' labor market productivity costs in prevention effectiveness estimates raises the net cost savings per averted case of spina bifida by 48% over the medical care costs alone. Information on labor market productivity costs for caregivers can be used to better inform economic evaluations of prevention and treatment strategies for spina bifida. Cost-effectiveness calculations that omit caregiver productivity costs substantially overstate the net costs of the intervention and underestimate societal value.

The Spina Bifida Child in the Classroom.

ERIC Educational Resources Information Center

Mattson, Beverly; And Others

Learning characteristics of children with spina bifida (lesions on the spinal cord) are reviewed in the text of a presentation with slides, and the effects of such factors as hospitalization experiences and the presence of hydrocephalus are considered. Characteristics related to intelligence, sensory integration, tactile responsiveness, tactile…

Neurosurgical Management of Spina Bifida: Research Issues

ERIC Educational Resources Information Center

Bowman, Robin M.; McLone, David G.

2010-01-01

The neurosurgical goal when treating children with spina bifida (predominantly myelomeningocele) is to maintain stable neurological functioning throughout the patient's life time. Unfortunately, few long-term outcome studies are available to help direct the neurosurgical care of a child born with myelomeningocele and often treatment relies more…

Impact of Spina Bifida on Parental Caregivers: Findings from a Survey of Arkansas Families

ERIC Educational Resources Information Center

Grosse, Scott D.; Flores, Alina L.; Ouyang, Lijing; Robbins, James M.; Tilford, John M.

2009-01-01

The well-being of caregivers of children with spina bifida and other conditions is an important topic. We interviewed the primary caregivers of 98 children aged 0-17 years with spina bifida sampled from a population-based birth defects registry in Arkansas and the caregivers of 49 unaffected children. Measures of caregiver well-being were compared…

Community Knowledge, Beliefs, Attitudes, and Practices towards Children with Spina Bifida and Hydrocephalus in Uganda

ERIC Educational Resources Information Center

Bannink, Femke; Stroeken, Koenraad; Idro, Richard; van Hove, Geert

2015-01-01

This article describes the findings of a qualitative study on knowledge, beliefs, attitudes, and practices towards children with spina bifida and hydrocephalus in four regions of Uganda. Focus group discussions and semi-structured interviews were held with parents of children with spina bifida and hydrocephalus, policy-makers, and service…

Projected number of children with isolated spina bifida or down syndrome in England and Wales by 2020.

PubMed

Best, Kate E; Glinianaia, Svetlana V; Lingam, Raghu; Morris, Joan K; Rankin, Judith

2018-05-19

Children with major congenital anomalies often require lifelong access to health and social care services. Estimating future numbers of affected individuals can aid health and social care planning. This study aimed to estimate the number of children aged 0-15 years living with spina bifida or Down syndrome in England and Wales by 2020. Cases of spina bifida and Down syndrome born during 1998-2013 were identified from the Northern Congenital Abnormality Survey and the National Down Syndrome Cytogenetic Register, respectively. The number of infants born with spina bifida during 1998-2019 were estimated by applying the average prevalence rate in the North of England to actual and projected births in England and Wales. Poisson regression was performed to estimate the number of infants born with Down syndrome in England and Wales during 1998-2013 and 2004-2019. The numbers of children aged 0-15 living with spina bifida or Down syndrome in 2014 and in 2020 were then estimated by multiplying year- and age-specific survival estimates by the number of affected births. An estimated 956 children with isolated spina bifida, 623 children with spina bifida and hydrocephalus and 11,592 children with Down syndrome aged 0-15 years will be living in England and Wales by 2020, increases of 7.2%, 12.0% and 12.7% since 2014, respectively. Due to improvements in survival, an increase in population size and changes in maternal age distribution at delivery, we anticipate further increases in the number of children living with spina bifida or Down syndrome by 2020. Copyright © 2018 Elsevier Masson SAS. All rights reserved.

Psychosocial and Family Functioning in Spina Bifida

ERIC Educational Resources Information Center

Holmbeck, Grayson N.; Devine, Katie A.

2010-01-01

A developmentally oriented bio-neuropsychosocial model is introduced to explain the variation in family functioning and psychosocial adjustment in youth and young adults with spina bifida (SB). Research on the family functioning and psychosocial adjustment of individuals with SB is reviewed. The findings of past research on families of youth with…

Are There Disorders or Conditions Associated with Spina Bifida?

MedlinePlus

... have shunts and have had many surgeries. 2 Learning Disabilities While at least 80% of children with open spina bifida do not have learning deficiencies, some do have learning problems. 3 Other ...

38 CFR 3.814 - Monetary allowance under 38 U.S.C. chapter 18 for an individual suffering from spina bifida whose...

Code of Federal Regulations, 2011 CFR

2011-07-01

... 38 U.S.C. chapter 18 for an individual suffering from spina bifida whose biological father or mother... for an individual suffering from spina bifida whose biological father or mother is or was a Vietnam... an individual suffering from spina bifida whose biological mother or father is or was a Vietnam...

38 CFR 3.814 - Monetary allowance under 38 U.S.C. chapter 18 for an individual suffering from spina bifida whose...

Code of Federal Regulations, 2010 CFR

2010-07-01

... 38 U.S.C. chapter 18 for an individual suffering from spina bifida whose biological father or mother... spina bifida whose biological father or mother is or was a Vietnam veteran. (a) Monthly monetary... person who VA has determined is an individual suffering from spina bifida whose biological mother or...

Factors Associated With Pressure Ulcers in Individuals With Spina Bifida

PubMed Central

Kim, Sunkyung; Ward, Elisabeth; Dicianno, Brad E.; Clayton, Gerald H.; Sawin, Kathleen J.; Beierwaltes, Patricia; Thibadeau, Judy

2015-01-01

Objective To describe factors associated with pressure ulcers in individuals with spina bifida (SB) enrolled in the National Spina Bifida Patient Registry (NSBPR). Design Unbalanced longitudinal multicenter cohort study. Setting Nineteen SB clinics. Participants Individuals with SB (N=3153) enrolled in 19 clinic sites that participate in the NSBPR. Interventions Not applicable. Main Outcome Measures Pressure ulcer status (yes/no) at the annual visit between 2009 and 2012. Results 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). Conclusions 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. PMID:25796136

Impairment of a Motor Skill in Children with Spina Bifida Cystica and Hydrocephalus: An Exploratory Study

ERIC Educational Resources Information Center

Anderson, Elizabeth M.; Plewis, Ian

1977-01-01

Twenty 7-10 year old children with spina bifida cystica and hydrocephalus and 20 normals matched for age, sex and IQ were compared on a 12-trial target task, first used by Connolly, Brown & Bassett (1968). Findings are discussed in relation to neurological abnormalities in the spina bifida group. (Editor/RK)

Update on Urological Management of Spina Bifida from Prenatal Diagnosis to Adulthood.

PubMed

Snow-Lisy, Devon C; Yerkes, Elizabeth B; Cheng, Earl Y

2015-08-01

We review the current literature regarding urological management of spina bifida from prenatal diagnosis to adulthood. We searched MEDLINE(®), EMBASE(®) and PubMed(®) for English articles published through December 2014 using search terms "spina bifida," "spinal dysraphism" and "bladder." Based on review of titles and abstracts, 437 of 1,869 articles were identified as addressing topics related to open spina bifida in pediatric patients, or long-term or quality of life outcomes in adults with spina bifida. We summarize this literature to inform clinical guidelines and create a framework for disease management. The birth prevalence of spina bifida in the United States has recently plateaued at approximately 30 per 100,000. With improved management more individuals are surviving to adulthood, with an economic impact of $319,000 during the lifetime of an individual with spina bifida. Recent advances in prenatal surgery have demonstrated that prenatal closure of spina bifida is possible. To assess safety and efficacy, the National Institutes of Health sponsored Management of Myelomeningocele Study was undertaken, in which subjects were randomized to prenatal or postnatal closure. Until the urological results of this trial are published, the impact of prenatal intervention on future bladder function remains unclear. Controversy continues regarding the optimal use and timing of urodynamic studies, and the indications for initiation of clean intermittent catheterization and anticholinergics in infants and children. Many favor expectant management, while others argue for a more proactive approach. Based on the current literature, both approaches appear to protect the child from renal injury, although delayed intervention may increase rates of bladder augmentation. The current literature regarding this topic is difficult to interpret and compare due to heterogeneity of patient populations, variable outcome measures and lack of reporting of quality of life outcomes

Treatment of pressure sores in spina bifida patients with calcium alginate and foam dressings.

PubMed

Ausili, E; Paolucci, V; Triarico, S; Maestrini, C; Murolo, D; Focarelli, B; Rendeli, C

2013-06-01

Prospective study on local treatment of pressure sores using calcium alginate and foam dressings in spina bifida patients. Investigate if this sequential approach is valid and safe for selected patients with neurological impairments. Using European Pressure Ulcer Grading System, after clinical evaluation of local sore, selected patients of Spina Bifida Center of Rome were treated with sequential calcium alginate and foam dressings for 12 weeks. Pressure ulcere surfaces were measured monthly by ulcer tracing. The endpoints were the mean absolute areas surface reduction during every month and number of patients achieving a 50% or more during study. 14 patients (7 males aged 12-24 years) with spina bifida and pressure sores were treated. Mean and standard deviation of mean surface area reduction were 12.5 ± 7.5 cm 2 at start of the study versus 3.7 ± 5.2 cm 2 after 12 weeks, p < 0.001. 75% of the patients reached mean surface area reduction of 50% during trial. Dressing tolerance was good in every patient. Calcium alginate and foam dressings are valid and safe approach in the treatment of pressure sores in selected patients with spina bifida. In fact, they protect the wound and create an environment favorable to healing.

An Approach for Determining Quantitative Measures for Bone Volume and Bone Mass in the Pediatric Spina Bifida Population

PubMed Central

Horenstein, Rachel E.; Shefelbine, Sandra J.; Mueske, Nicole M.; Fisher, Carissa L.; Wren, Tishya A.L.

2015-01-01

Background The pediatric spina bifida population suffers from decreased mobility and recurrent fractures. This study aimed to develop a method for quantifying bone mass along the entire tibia in youth with spina bifida. This will provide information about all potential sites of bone deficiencies. Methods Computed tomography images of the tibia for 257 children (n=80 ambulatory spina bifida, n=10 non-ambulatory spina bifida, n=167 typically developing) were analyzed. Bone area was calculated at regular intervals along the entire tibia length and then weighted by calibrated pixel intensity for density weighted bone area. Integrals of density weighted bone area were used to quantify bone mass in the proximal and distal epiphyses and diaphysis. Group differences were evaluated using analysis of variance. Findings Non-ambulatory children suffer from decreased bone mass in the diaphysis and proximal and distal epiphyses compared to ambulatory and control children (P≤0.001). Ambulatory children with spina bifida showed statistically insignificant differences in bone mass in comparison to typically developing children at these sites (P>0.5). Interpretation This method provides insight into tibial bone mass distribution in the pediatric spina bifida population by incorporating information along the whole length of the bone, thereby providing more information than dual-energy x-ray absorptiometry and peripheral quantitative computed tomography. This method can be applied to any population to assess bone mass distribution across the length of any long bone. PMID:26002057

38 CFR 21.8012 - Vocational training program for certain children of Vietnam veterans-spina bifida and covered...

Code of Federal Regulations, 2010 CFR

2010-07-01

... program for certain children of Vietnam veterans-spina bifida and covered birth defects. 21.8012 Section... REHABILITATION AND EDUCATION Vocational Training and Rehabilitation for Certain Children of Vietnam Veterans... children of Vietnam veterans—spina bifida and covered birth defects. VA will provide an evaluation to an...

Fetal surgery for spina bifida: past, present, future.

PubMed

Adzick, N Scott

2013-02-01

Open spina bifida or myelomeningocele (MMC) is a common birth defect that is associated with significant lifelong morbidity. Little progress has been made in the postnatal surgical management of the child with spina bifida. Postnatal surgery is aimed at covering the exposed spinal cord, preventing infection, and treating hydrocephalus with a ventricular shunt. Experimental and clinical evidence suggest that the primary cause of the neurologic defects associated with MMC is not simply incomplete neurulation, but rather chronic, mechanical and amniotic-fluid induced chemical trauma that progressively damages the exposed neural tissue during gestation. The cerebrospinal fluid leak through the MMC leads to hindbrain herniation and hydrocephalus. In utero repair of open spina bifida is now performed in selected patients and presents an additional therapeutic alternative for expectant mothers carrying a fetus with MMC. In the past, studies in animal models and clinical case series laid the groundwork for a clinical trial to test the safety and efficacy of fetal MMC repair. In the present, a prospective, randomized study (the MOMS trial) has shown that fetal surgery for MMC before 26 weeks' gestation may preserve neurologic function, reverse the hindbrain herniation of the Chiari II malformation, and obviate the need for postnatal placement of a ventriculoperitoneal shunt. However, this study also demonstrates that fetal surgery is associated with significant risks related to the uterine scar and premature birth. In the future, research will expand our understanding of the pathophysiology of MMC, evaluate the long-term impact of in-utero intervention, and to refine timing and technique of fetal MMC surgery using tissue engineering technology. Copyright © 2013 Elsevier Inc. All rights reserved.

[Spina bifida occulta associated with environmental arsenic exposure in a prehispanic sample from northern Chile].

PubMed

Silva-Pinto, Verónica; Arriaza, Bernardo; Standen, Vivien

2010-04-01

The Camarones River Valley, located in the extreme north of Chile, is characterized by high environmental arsenic levels and an arid desert. It has been inhabited by humans for the past 7,000 years. Evidence exists for chronic arsenic poisoning in both prehispanic and present populations residing in the area. Chronic arsenic exposure causes multi-systemic problems and can induce congenital malformations, in particular neural tube development defects such as spina bifida. To study the prevalence of spina bifida among prehispanic mummies of the area. One hundred and twenty prehistoric adult individuals were analyzed for evidence of spina bifda occulta of the sacrum in skeletal samples from the sites of Camarones 8, Camarones 9, Azapa 140 and Lluta 54, held in repository at the Museo Universidad de Tarapacá de Arica- San Miguel de Azapa. A diagnosis was considered positive when at least S1, S2 or S3 were affected. As controls, mummies of individuals that resided in Lluta and Azapa valley, with a low arsenic exposure, were analyzed. The frequency of spina bifida occulta among samples from the Camarones coast and Lluta and Azapa Valley were 13.5 and 2.4% respectively. Considering these were contemporaneous samples, and are believed to have had no other differences in diet or other factors, the differential exposures to arsenic could have produced the observed differences in spina bifida frequencies.

Exploring psychosocial correlates of physical activity among children and adolescents with spina bifida.

PubMed

Marques, Adilson; Maldonado, Inês; Peralta, Miguel; Santos, Sofia

2015-01-01

To enhance physical activity of children with spina bifida, it is important to investigate the correlates of physical activity to support the development of interventions to promote active lifestyles. This study aimed to identify psychosocial correlates of physical activity among children and adolescents with spina bifida. A survey was conducted with 31 students (15 boys), aged 10-17 years with spina bifida. A questionnaire was used to collect data of physical activity, demographic and psychosocial variables (attitudes, sports goal orientation and perceptions). Unadjusted and adjusted binary logistic regressions were performed to examine the relationship of psychosocial factors and physical activity participation. Data were collected in 2013. Only 38.7% reported to participate in both organized and non-organized physical activity. Results showed no relationship between participation in organized and non-organized physical activity and psychosocial correlates. The result of the adjusted regression analysis show that perception of competence (OR = 9.55, 1.06-85.99, p < 0.05) was the only variable positively associated with participation in non-organized physical activity. Most of the participants reported that they did not participate in physical activity regularly. Psychosocial variables were not related with physical activity, except perception of competence. Studies with bigger samples are needed, focused on the same and in others factors to identify the predictors of physical activity of young people with spina bifida. Copyright © 2015 Elsevier Inc. All rights reserved.

Observations of a Father: My Son Has Spina Bifida.

ERIC Educational Resources Information Center

Remmel, Carl L.

1982-01-01

The author reviews his experiences as the father of a child with spina bifida, a congenital problem in which the spine is not completely enclosed. He recounts his feelings upon first finding out about the condition and his son's subsequent surgeries and crises. (CL)

Adult consequences of spina bifida: a cohort study.

PubMed

Roach, James W; Short, Barbara F; Saltzman, Hanna M

2011-05-01

Patients with spina bifida potentially experience social isolation with limited employment opportunities and restriction of independent living, neurologic and intellectual impairment, and orthopaedic and urologic consequences of their condition. However, the degree of disability as these individuals age into adulthood has not been completely delineated. In adults with spina bifida we determined the cause of death for those who had died, IQ, level of education, work history, independent living status, physical disabilities, and urologic status; we then identified surgical procedures that led to better adult function. We retrospectively reviewed 84 individuals with myelomeningocele, examining social, cognitive, and physical disabilities. The minimum age at followup was 20 years (mean, 31 years; range, 20-64 years). Forty-two percent had normal IQs. Seventy percent never needed a neurosurgical shunt and those without shunts had higher IQs. Forty-four percent had regular education and 8% achieved college degrees. Fifty-six percent were unemployed. Thirty percent lived independently. Twenty-three percent were either married or divorced with nine normal offspring. Eighty-five percent dressed themselves, 65% shopped independently, 54% drove. Thirty-one percent were at the thoracic neurologic level (all used wheelchairs), 12% were at L1-L3 (all used a wheelchair except one), 33% were at L4-L5 (78% used a wheelchair at least part-time), and 24% were at S1 and below (all walked). Fifty-four percent experienced decubiti and as a consequence, four required major extremity amputations. Spinal fusions protected sitting balance, but hip surgery did not produce congruent hips and occasionally resulted in debilitating stiffness. Pressure sores resulted in partial foot amputations despite plantigrade feet. Our observations confirm the consequences associated with the physical and cognitive disabilities of patients with spina bifida. Many of these consequences can likely be mitigated

An environmental scan of weight assessment and management practices in paediatric spina bifida clinics across Canada.

PubMed

McPherson, Amy C; Leo, Jennifer; Church, Paige; Lyons, Julia; Chen, Lorry; Swift, Judy

2014-01-01

Childhood obesity is a global health concern, but children with spina bifida in particular have unique interacting risk factors for increased weight. To identify and explore current clinical practices around weight assessment and management in pediatric spina bifida clinics. An online, self-report survey of healthcare professionals (HCPs) was conducted in all pediatric spina bifida clinics across Canada (15 clinics). Summary and descriptive statistics were calculated and descriptive thematic analysis was performed on free text responses. 52 responses across all 15 clinics indicated that weight and height were assessed and recorded most of the time using a wide variety of methods, although some HCPs questioned their suitability for children with spina bifida. Weight and height information was not routinely communicated to patients and their families and HCPS identified considerable barriers to discussing weight-related information in consultations. Despite weight and height reportedly being measured regularly, HCPs expressed concern over the lack of appropriate assessment and classification tools. Communication across multi-disciplinary team members is required to ensure that children with weight-related issues do not inadvertently get overlooked. Specific skill training around weight-related issues and optimizing consultation time should be explored further for HCPs working with this population.

The Infant and Young Child with Spina Bifida: Major Medical Concerns.

ERIC Educational Resources Information Center

Shaer, Catherine M.

1997-01-01

This review of medical concerns in dealing with spina bifida examines neurologic and neurosurgical issues, learning issues, urological dysfunction, orthopedic issues, bowel control, latex allergy, and prenatal diagnosis and prevention. (JDD)

First-trimester visualization of the fourth ventricle in fetuses with and without spina bifida.

PubMed

Solt, Ido; Acuna, Joann G; Adeniji, Beni A; Mirocha, James; Kim, Matthew J; Rotmensch, Siegfried

2011-12-01

The purpose of this study was to examine the efficacy of nonvisualization of the fourth ventricle for first-trimester detection of spina bifida. A total of 250 digitally stored sonographic examinations at gestational ages of 11 weeks to 13 weeks 6 days (245 normal and 5 randomly interspersed spina bifida cases) were retrospectively analyzed by 4 blinded reviewers for the presence or absence of the fourth ventricle followed by an anteroposterior ventricular dimension measurement. The ventricle size was related to the crown-rump length and gestational age by linear regression analysis and Pearson correlation. The fourth ventricle was identified in 971 of 1000 image readings (97.1%). False-negative and false-positive readings occurred in 11 of 20 (55.0%) and 20 of 980 (2.0%) cases, respectively (sensitivity, 0.45; specificity, 0.98.). False-negative and false-positive readings were evenly distributed throughout the gestational age range. When the ventricular size was measurable, its mean dimensions increased linearly with gestational age and were below the fifth percentile in 10 of 245 (4.0%) normal and 0 of 4 spina bifida cases, respectively. Intraclass correlation coefficient estimates were calculated based on the 2-way analysis of variance model and found to be 0.30 for a single rater and 0.64 for the mean of 4 raters. Nonvisualization of the first-trimester fourth ventricle is a less robust screening parameter for spina bifida than previously published.

Paternal and joint parental occupational pesticide exposure and spina bifida in the National Birth Defects Prevention Study, 1997 to 2002.

PubMed

Pettigrew, Stacy M; Bell, Erin M; Van Zutphen, Alissa R; Rocheleau, Carissa M; Shaw, Gary M; Romitti, Paul A; Olshan, Andrew; Lupo, Philip J; Soim, Aida; Makelarski, Jennifer A; Michalski, Adrian M; Sanderson, Wayne

2016-11-01

Because of persistent concerns over the association between pesticides and spina bifida, we examined the role of paternal and combined parental occupational pesticide exposures in spina bifida in offspring using data from a large population-based study of birth defects. Occupational information from fathers of 291 spina bifida cases and 2745 unaffected live born control infants with estimated dates of delivery from 1997 to 2002 were collected by means of maternal report. Two expert industrial hygienists estimated exposure intensity and frequency to insecticides, herbicides, and fungicides. Multivariable logistic regression models were used to estimate adjusted odds ratios (aOR) and 95% confidence intervals (CI) for exposure to any pesticide and to any class of pesticide (yes/no; and by median), and exposure to combinations of pesticides (yes/no) and risk of spina bifida. Adjusted odds ratios were also estimated by parent exposed to pesticides (neither, mother only, father only, both parents). Joint parental occupational pesticide exposure was positively associated with spina bifida (aOR, 1.5; 95% CI, 0.9-2.4) when compared with infants with neither maternal nor paternal exposures; a similar association was not observed when only one parent was exposed. There was a suggested positive association between combined paternal insecticide and fungicide exposures and spina bifida (aOR, 1.5; 95% CI, 0.8-2.8), however, nearly all other aORs were close to unity. Overall, there was little evidence paternal occupational pesticide exposure was associated with spina bifida. However, the small numbers make it difficult to precisely evaluate the role of pesticide classes, individually and in combination. Birth Defects Research (Part A) 106:963-971, 2016. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

Maternal occupational exposure during pregnancy and the risk of spina bifida.

PubMed Central

Blatter, B M; Roeleveld, N; Zielhuis, G A; Gabreëls, F J; Verbeek, A L

1996-01-01

OBJECTIVES: A case-control study was carried out to explore associations between spina bifida and occupational exposure of the mother. METHODS: The cases were children with spina bifida aperta born between 1980 and 1992 from nine hospitals in the Netherlands. The controls were children born healthy in the same period as the cases, from hospitals and from the general population. Data collection was carried out in two steps. Firstly, postal questionnaires were sent to all the parents of cases and controls to gather information on occupations and potential confounders. In the second phase of the study, information on specific exposures was collected by means of job and task specific personal interviews. Interviews were performed with 55 case mothers and 66 control mothers who had occupations with a potential for chemical or physical exposure. Those exposures were assumed to be negligible for--for example, teachers and secretaries, so personal interviews were not indicated for these women. Information was collected on specific tasks in the period just after conception, and on the associated use of chemical or physical agents, frequency of exposure, and use of protective equipment. RESULTS: The analyses of occupation showed an increased risk for women working in agricultural occupations (OR = 3.4, CI:1.3-9.0), and, although less distinct, for cleaning women (OR = 1.7, CI:0.9-3.4). Only a few women seemed to be occupationally exposed to chemical or physical agents. No differences in occurrence of specific exposures could be detected between cases and controls. Besides, no differences were seen in pesticide or disinfectant exposure among case and control mothers in agricultural occupations. CONCLUSIONS: Occupational exposures of the mother during pregnancy were infrequent and did not seem to play an important part in the aetiology of spina bifida in this study. The association found between spina bifida and maternal agricultural occupations could not be explained by the

Is autonomy related to the quality of performance of everyday activities in children with spina bifida?

PubMed

Peny-Dahlstrand, Marie; Krumlinde-Sundholm, Lena; Gosman-Hedström, Gunilla

2012-01-01

To investigate the relationship between the level of autonomy and the quality of performance of everyday activities in a population-based cohort of children with spina bifida and to study the agreement between the children's and the parents' ratings of autonomy. 50 dyads of children (aged 6-14) with spina bifida and their parents rated the children's level of autonomy with an adapted, Swedish version of the Autonomy Scale from the Arc's Self-Determination Scale. Each child's quality of performance of everyday activities was assessed with the Assessment of Motor and Process Skills (AMPS). The autonomy levels of the children with spina bifida were rated to be lowest in daily routines and highest in leisure activities. Binary logistic regression analyses revealed that age, motor skills and process skills were all significantly related to the autonomy level, but that process skills appeared to predominate in this respect. Concerning the perception of the autonomy level, little agreement was found between each child and his/her parent. It is important to understand and support the development of process skills as expressed in task performance in children with spina bifida and to pay attention to both the parent's and the child's opinion when setting goals and plans for interventions.

Effect of bladder augmentation on VP shunt failure rates in spina bifida.

PubMed

Gonzalez, Dani O; Cooper, Jennifer N; McLeod, Daryl J

2017-12-11

Most patients with spina bifida require ventriculoperitoneal (VP) shunt placement. Some also require bladder augmentation, which may increase the risk of VP shunt malfunction and/or failure. The aim of this study was to assess whether bladder augmentation affects the rate of VP shunt failure in this population. Using the Pediatric Health Information System, we studied patients with spina bifida born between 1992 and 2014 who underwent VP shunt placement. Using conditional logistic regression, we compared age- and hospital-matched patients who did and did not undergo a bladder augmentation to determine their difference in rates of VP shunt failure. There were 4192 patients with spina bifida who underwent both surgical closure and VP shunt placement. Of these, 203 patients with bladder augmentation could be matched to 593 patients without bladder augmentation. VP shunt failure occurred within 2 years in 7.7% of patients, the majority of whom were in the group who underwent bladder augmentation (87%). After adjusting for confounders, undergoing bladder augmentation was independently associated with VP shunt failure (HR: 33.5, 95% CI: 13.15-85.44, p< 0.001). Bladder augmentation appears to be associated with VP shunt failure. Additional studies are necessary to better define this relationship and identify risk-reduction techniques.

Cognitive changes after cerebrospinal fluid shunting in young adults with spina bifida and assumed arrested hydrocephalus

PubMed Central

Mataro, M.; Poca, M. A.; Sahuquillo, J.; Cuxart, A.; Iborra, J.; de la Calzada, M. D.; Junque, C.

2000-01-01

OBJECTIVES—To establish whether surgery can improve the neuropsychological functioning of young adult patients with spina bifida and apparent clinically arrested hydrocephalus showing abnormal intracranial pressure.
METHODS—Twenty three young adults with spina bifida and assumed arrested hydrocephalus (diagnosed as active or compensated by continuous intracranial pressure monitoring) underwent surgery. All patients received neuropsychological examination before surgery and 6 months later. Neuropsychological assessment included tests of verbal and visual memory, visuospatial functions, speed of mental processing, and frontal lobe functions.
RESULTS—Shunt placement in this subgroup of patients improves neuropsychological functioning, especially in verbal and visual memory and attention and cognitive flexibility.
CONCLUSIONS—Young adults with spina bifida and suspected non-functioning shunt or non-shunted ventriculomegaly should be carefully monitored to identify those who could benefit from shunting.

 PMID:10766893

Sexual function and erection capability among young men with spina bifida.

PubMed

Sandler, A D; Worley, G; Leroy, E C; Stanley, S D; Kalman, S

1996-09-01

In a study of sexual function and erection capability, 15 young men with spina bifida were interviewed, underwent physical examination, and completed two consecutive night recordings of penile tumescence and rigidity with the Rigi-Scan (Dacomed Inc.). Eleven reported erections with stimulation. Rigi-Scan data showed that two subjects (both with lesions at the sacral level) had normal numbers and durations of erections, that seven others had abnormally brief and infrequent nocturnal erections, and that six had none. Ten subjects had at least 'some' glans sensation on physical examination. Self-reported erection capability was related to motor level and glans sensation. The number of nocturnal erections was related to sensory level. The study suggests that lower motor and sensory levels are associated with greater potential sexual function in males with spina bifida.

Neurological bypass for sensory innervation of the penis in patients with spina bifida.

PubMed

Overgoor, Max L E; Kon, Moshe; Cohen-Kettenis, Peggy T; Strijbos, Saskia A M; de Boer, Niels; de Jong, Tom P V M

2006-09-01

Most male patients with spina bifida have normal sexual desires. During puberty they begin to realize that they can achieve erection and sexual intercourse but without any sensation in the penis. We hypothesized that restored sensation in the penis would greatly contribute to their quality of life and sexual health. In this prospective study we investigated the outcome of a new operative neurological bypass procedure in patients with spina bifida. In 3 patients who were 17, 18 and 21 years old with a spinal lesion at L5, L4 and L3-L4, respectively, the sensory ilioinguinal nerve (L1) was cut distal in the groin and joined by microneurorrhaphy to the divided ipsilateral dorsal nerve of the penis (S2-4) at the base of the penis. All patients underwent preoperative and postoperative neurological and psychological evaluations. By 15 months postoperatively all patients had achieved excellent sensation on the operated side of the glans penis. They were unequivocally positive about the results and the penis had become more integrated into the body image. In 2 patients masturbation became more meaningful and 1 became more sexually active with and without his partner. The newly designed neurological bypass procedure in patients with spina bifida resulted in excellent sensibility in the glans penis. The new sensation appeared to contribute to the quality of the patient sexuality and sexual functioning as well as to the feeling of being a more normal and complete individual who is more conscious of the penis. This new operation might become standard treatment in patients with spina bifida in the future.

Retrospective Assessment of Cost Savings From Prevention: Folic Acid Fortification and Spina Bifida in the U.S.

PubMed

Grosse, Scott D; Berry, Robert J; Mick Tilford, J; Kucik, James E; Waitzman, Norman J

2016-05-01

Although fortification of food with folic acid has been calculated to be cost saving in the U.S., updated estimates are needed. This analysis calculates new estimates from the societal perspective of net cost savings per year associated with mandatory folic acid fortification of enriched cereal grain products in the U.S. that was implemented during 1997-1998. Estimates of annual numbers of live-born spina bifida cases in 1995-1996 relative to 1999-2011 based on birth defects surveillance data were combined during 2015 with published estimates of the present value of lifetime direct costs updated in 2014 U.S. dollars for a live-born infant with spina bifida to estimate avoided direct costs and net cost savings. The fortification mandate is estimated to have reduced the annual number of U.S. live-born spina bifida cases by 767, with a lower-bound estimate of 614. The present value of mean direct lifetime cost per infant with spina bifida is estimated to be $791,900, or $577,000 excluding caregiving costs. Using a best estimate of numbers of avoided live-born spina bifida cases, fortification is estimated to reduce the present value of total direct costs for each year's birth cohort by $603 million more than the cost of fortification. A lower-bound estimate of cost savings using conservative assumptions, including the upper-bound estimate of fortification cost, is $299 million. The estimates of cost savings are larger than previously reported, even using conservative assumptions. The analysis can also inform assessments of folic acid fortification in other countries. Published by Elsevier Inc.

Correlates of Self Esteem in Adolescents with Spina Bifida.

ERIC Educational Resources Information Center

Eckart, M. L.

The study examined correlates of self-esteem in 54 adolescents and young adults (ages 12-22) with spina bifida. Core issues identified were the relationships of global self-esteem and perceived competencies in specific areas, perceptions of control, and identification with the physically handicapped. Relationships of self-esteem to age, gender,…

Math and numeracy in young adults with spina bifida and hydrocephalus.

PubMed

Dennis, Maureen; Barnes, Marcia

2002-01-01

The developmental stability of poor math skill was studied in 31 young adults with spina bifida and hydrocephalus (SBH), a neurodevelopmental disorder involving malformations of the brain and spinal cord. Longitudinally, individuals with poor math problem solving as children grew into adults with poor problem solving and limited functional numeracy. As a group, young adults with SBH had poor computation accuracy, computation speed, problem solving, a ndfunctional numeracy. Computation accuracy was related to a supporting cognitive system (working memory for numbers), and functional numeracy was related to one medical history variable (number of lifetime shunt revisions). Adult functional numeracy, but not functional literacy, was predictive of higher levels of social, personal, and community independence.

The impact of folic acid intake on the association among diabetes mellitus, obesity, and spina bifida.

PubMed

Parker, Samantha E; Yazdy, Mahsa M; Tinker, Sarah C; Mitchell, Allen A; Werler, Martha M

2013-09-01

The purpose of this study was to investigate the relationship between spina bifida and 2 established risk factors (pregestational diabetes mellitus and obesity) in both the presence and absence of the recommended daily folic acid intake in the periconceptional period. Cases of spina bifida (n = 1154) and control subjects (n = 9439) from the Slone Epidemiology Center Birth Defects Study (1976-2011) were included. Information on preexisting diabetes mellitus (collected 1976-2011) and obesity (collected 1993-2011), defined as a body mass index of ≥30 kg/m(2), was collected through interviews that were conducted within 6 months of delivery. Periconceptional folic acid intake was calculated with both dietary and supplement information. Mothers were classified as consuming more or less than 400 μg/day of folic acid; food folate was included at a 30% discount for its lower bioavailability. Logistic regression models that were adjusted for maternal age, race, education, and study site were used to calculate adjusted odds ratios (aORs) and 95% confidence intervals (CIs) for the joint effects of low folic acid intake coupled with diabetes mellitus or obesity. Case mothers were more likely to have diabetes mellitus or be obese (0.7% and 19.0%, respectively) than control mothers (0.4% and 10.8%, respectively). The joint effect of diabetes mellitus and lower folic acid intake on spina bifida was larger (aOR, 3.95; 95% CI, 1.56-10.00) than that of diabetes mellitus and higher folic acid intake (aOR, 1.31; 95% CI, 0.17-10.30). Folic acid intake made little difference on the association between obesity and spina bifida. Our findings suggest that folic acid further attenuates, although does not eliminate, the risk of spina bifida that is associated with diabetes mellitus than the risk with obesity. Copyright © 2013 Mosby, Inc. All rights reserved.

Motor evoked potentials and compound muscle action potentials as prognostic tools for neonates with spina bifida.

PubMed

Cuppen, Inge; Geerdink, Niels; Rotteveel, Jan J; Mullaart, Reinier; Roeleveld, Nel; Pasman, Jaco W

2013-03-01

MEPs and CMAPs as prognostic tools for spina bifida. The aim of this prospective study was to determine the prognostic value of neurophysiological investigations compared to clinical neurological examination in infants with spina bifida. Thirty-six neonates born with spina bifida between 2002 and 2007 were evaluated and followed for 2 years. Lumbar motor evoked potentials (MEPs) and compound muscle action potentials (CMAPs) were obtained at the median age of 2 days old before surgical closure of the spinal anomaly. MEPs were recorded from the quadriceps femoris, tibialis anterior, and gastrocnemius muscles and CMAPs from the latter two muscles. Areas under the curve and latencies of the MEPs and CMAPs were measured. Clinical neurological outcome at the age of 2 years was described using Muscle Function Classes (MFCs) and ambulation status. The areas under the curve of MEPs and CMAPs in the legs were associated with lower neonatal levels of motor and sensory impairment. Better muscle function class of the lower limbs at 2 years of age was associated with larger MEP and CMAP areas of the gastrocnemius and tibialis anterior muscles at neonatal age. MEPs and CMAPs of the gastrocnemius and tibialis anterior muscles are of prognostic value for clinical neurological outcome in neonates born with spina bifida. Copyright © 2012 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.

Children with Spina Bifida: Why Do They Fail in School?

ERIC Educational Resources Information Center

Eisert, Debra C.; Shelburne, Kathryn

Thirty-eight children with spina bifida, a congenital defect involving the nervous system, were tested for verbal and performance ability and freedom from distractibility on the Wechsler Intelligence Scale for Children-Revised. Achievement on the Wide Range Achievement Test was also measured, and medical and socioeconomic information obtained.…

Biparietal/transverse abdominal diameter ratio ≤ 1: potential marker for open spina bifida at 11-13-week scan.

PubMed

Simon, E G; Arthuis, C J; Haddad, G; Bertrand, P; Perrotin, F

2015-03-01

In the first trimester of pregnancy, a biparietal diameter (BPD) below the 5(th) percentile is a simple marker that enables the prenatal detection of half of all cases of open spina bifida. We hypothesized that relating the BPD measurement to the transverse abdominal diameter (TAD) might be another simple and effective screening method. In this study we assessed the performance of using the BPD/TAD ratio during the first trimester of pregnancy in screening for open spina bifida. A total of 20,551 first-trimester ultrasound scans (11-13 weeks' gestation), performed between 2000 and 2013, were analyzed retrospectively; there were 26 cases of open spina bifida and 17,665 unaffected pregnancies with a crown-rump length of 45-84 mm and a record of both BPD and TAD measurements. The mean (± SD) BPD/TAD ratio was 1.00 ± 0.06 for fetuses with spina bifida and 1.13 ± 0.06 for those without (P < 0.0001). A BPD ≤ 5(th) percentile enabled the prenatal detection of 46.2% of spina bifida cases, while a BPD/TAD ratio of ≤ 1.00 detected 69.2%. If we considered cases in which either BPD was ≤ 5(th) percentile or BPD/TAD ratio was ≤ 1, we identified 76.9% of cases. In the latter case, the false-positive rate was 5.1%, while that for using a combination of both BPD ≤ 5th percentile and BPD/TAD ratio ≤ 1 was 0.6%, with a sensitivity of 38.5%. The positive predictive value of using a combination of BPD ≤ 5th percentile and BPD/TAD ratio ≤ 1 for detecting spina bifida was 8.5%. Between 11 and 13 weeks' gestation, relating BPD to TAD improves considerably the diagnostic performance of using BPD measurement alone in screening for open spina bifida. Screening using this marker is simple and applicable to a large population. Copyright © 2014 ISUOG. Published by John Wiley & Sons Ltd.

[Orthopedic management of spina bifida].

PubMed

Biedermann, R

2014-07-01

Spina bifida is associated with congenital deformities, such as kyphosis, spinal malformations, teratological hip dislocations, clubfeet, vertical talus and also with acquired deformities due to muscle imbalance and impaired biomechanics. The degree of the acquired deformities and the mobility of the patient depend on the level of the spinal lesion. Neurological symptoms are mostly asymmetric and there is an inconsistent correlation between the anatomical level of the lesion and muscle function. Deficits of sensation are usually one to two levels lower than the motor level. An exact neurological diagnosis should not be made before the second or third year of life and an early prognosis about walking ability should be avoided. The level L3 and therefore function of the quadriceps is a functional milestone after which modified independent ambulation with the use of ankle foot orthoses (AFO) and crutches is possible. The basic principle is to support verticalization and gait even when loss of ambulation is later expected. It is also important to support and maintain sitting ability for high lesions, if necessary with correction of the spinal deformity. Findings in gait analysis have shifted the focus of treatment from radiological criteria to functional improvement, thus maintenance of the flexibility of the hip is the main goal of hip surgery. Reduction of the hip often leads to stiffness and has a high redislocation rate. Clubfoot deformities should be treated early and foot arthrodesis and stiffness have to be avoided. Another focus is the prevention of joint contracture by early prophylactic treatment. The purpose of management is to maximize the functional potential of the child. Subjective well-being, absence of pain, mobility and socialization are the main goals. This does not necessarily imply ambulation; nevertheless, verticalization and associated orthotic management is one major objective of the orthopedic management of spina bifida.

Resilience, self-esteem and self-compassion in adults with spina bifida.

PubMed

Hayter, M R; Dorstyn, D S

2014-02-01

Cross-sectional survey. To examine factors that may enhance and promote resilience in adults with spina bifida. Community-based disability organisations within Australia. Ninety-seven adults with a diagnosis of spina bifida (SB) completed a survey comprising of demographic questions in addition to standardised self-report measures of physical functioning (Craig Handicap Assessment and Reporting Technique), resilience (Connor-Davidson Resilience Scale, 10 item), self-esteem (Rosenberg Self-esteem Scale), self-compassion (Self-compassion Scale) and psychological distress (Depression Anxiety Stress Scales, 21 item). The majority (66%) of respondents reported moderate to high resilience. Physical disability impacted on coping, with greater CD-RISC 10 scores reported by individuals who were functionally independent in addition to those who experienced less medical co-morbidities. Significant correlations between resilience and psychological traits (self-esteem r=0.36, P<0.01; self-compassion r=0.40, P<0.01) were also noted. However, the combined contribution of these variables only accounted for 23% of the total variance in resilience scores (R(2)=0.227, F(5,94)=5.23, P<0.01). These findings extend current understanding of the concept of resilience in adults with a congenital physical disability. The suggestion is that resilience involves a complex interplay between physical determinants of health and psychological characteristics, such as self-esteem and self-compassion. It follows that cognitive behavioural strategies with a focus on self-management may, in part, contribute to the process of resilience in this group. Further large-scale and longitudinal research will help to confirm these findings.

A comparison between placental and amniotic mesenchymal stem cells for transamniotic stem cell therapy (TRASCET) in experimental spina bifida.

PubMed

Feng, Christina; D Graham, Christopher; Connors, John Patrick; Brazzo, Joseph; Zurakowski, David; Fauza, Dario O

2016-06-01

We compared placental-derived and amniotic fluid-derived mesenchymal stem cells (pMSCs and afMSCs, respectively) in transamniotic stem cell therapy (TRASCET) for experimental spina bifida. Pregnant dams (n=29) exposed to retinoic acid for the induction of fetal spina bifida were divided into four groups. Three groups received volume-matched intraamniotic injections of either saline (n=38 fetuses) or a suspension of 2×10(6) cells/mL of syngeneic, labeled afMSCs (n=73) or pMSCs (n=115) on gestational day 17 (term=21-22days). Untreated fetuses served as controls. Animals were killed before term. Statistical comparisons were by Fisher's exact test (p<0.05). Survival was similar across treatment groups (p=0.08). In fetuses with isolated spina bifida (n=100), there were higher percentages of defect coverage (either partial or complete) in both afMSC and pMSC groups compared with saline and untreated groups (p<0.001-0.03 in pairwise comparisons). There were no differences in coverage rates between afMSC and pMSC groups (p=0.94) or between saline and untreated groups (p=0.98). Both pMSC and afMSC can induce comparable rates of coverage of experimental spina bifida after concentrated intraamniotic injection in the rodent model. This broadens the options for timing and cell source for TRASCET as a potential alternative in the prenatal management of spina bifida. Copyright © 2016 Elsevier Inc. All rights reserved.

Primary care providers and medical homes for individuals with spina bifida.

PubMed

Walker, William O

2008-01-01

The contributions of primary care providers to the successful care of children with spina bifida cannot be underestimated. Overcoming systemic barriers to their integration into a comprehensive care system is essential. By providing routine and disability specific care through the structure of a Medical Home, they are often the first line resource and support for individuals and their families. The Medical Home model encourages primary care providers to facilitate discussions on topics as varied as education and employment. Knowledge of specific medical issues unique to this population allows the primary care provider to complement the efforts of other specialty clinics and providers in often neglected areas such as sexual health, obesity and latex sensitization. As individuals with spina bifida live into adulthood, and access to traditional multidisciplinary care models evolves, these skills will take on increasing importance within the scope of providing comprehensive and coordinated care.

Predictors of parenting stress in mothers of children with spina bifida.

PubMed

Kanaheswari, Y; Razak, N N A; Chandran, V; Ong, L C

2011-03-01

Prospective cross-sectional multidimensional study using clinical assessment and standard measures. To determine the medical and social factors associated with parenting stress among mothers of children with spina bifida. Spina bifida clinics of two tertiary hospitals in urban Kuala Lumpur, Malaysia. A total of 81 mothers of children aged 1-18 years completed the Parenting Stress Index-Short Form (PSI/SF). Each child's adaptive skills were assessed using the Vineland Adaptive Behaviour Scales (VABS), Interview Edition. Medical and social data were obtained from direct interviews and case note reviews. Hierarchical multiple regression analysis was used to investigate factors that were determinants for high scores in the parental distress (PD), difficult child (DC) and parent-child dysfunctional interaction (P-CDI) subdomains of the PSI/SF. Results were expressed as beta coefficient (β) and 95% confidence intervals (95% CIs). Single-parent families (β 8.6, 95% CI 3.4-13.9) and the need for clean intermittent catheterization of bladder (β 3.5, 95% CI 0.7-6.2) were associated with high PD scores. Clean intermittent catheterization (β 3.0, 95% CI 0.5-5.5) was associated with higher DC scores. Lower composite VABS scores (β -0.08, 95% CI -0.02 to -0.15) and mother as the sole caregiver (β 2.6, 95% CI 0.15-4.96) was associated with higher P-CDI scores. The need for clean intermittent catheterization was the only medical factor associated with parenting stress in mothers of children with spina bifida. This was mediated by single parenthood, caregiver status and the child's adaptive skills.

CHKA and PCYT1A gene polymorphisms, choline intake and spina bifida risk in a California population

PubMed Central

Enaw, James O Ebot; Zhu, Huiping; Yang, Wei; Lu, Wei; Shaw, Gary M; Lammer, Edward J; Finnell, Richard H

2006-01-01

Background Neural tube defects (NTDs) are among the most common of all human congenital defects. Over the last two decades, accumulating evidence has made it clear that periconceptional intake of folic acid can significantly reduce the risk of NTD affected pregnancies. This beneficial effect may be related to the ability of folates to donate methyl groups for critical physiological reactions. Choline is an essential nutrient and it is also a methyl donor critical for the maintenance of cell membrane integrity and methyl metabolism. Perturbations in choline metabolism in vitro have been shown to induce NTDs in mouse embryos. Methods This study investigated whether single nucleotide polymorphisms (SNPs) in human choline kinase A (CHKA) gene and CTP:phosphocholine cytidylytransferase (PCYT1A) gene were risk factors for spina bifida. Fluorescence-based allelic discrimination analysis was performed for the two CHKA intronic SNPs hCV1562388 (rs7928739) and hCV1562393, and PCYT1A SNP rs939883 and rs3772109. The study population consisted of 103 infants with spina bifida and 338 non-malformed control infants who were born in selected California counties in the period 1989–1991. Results The CHKA SNP hCV1562388 genotypes with at least one C allele were associated with a reduced risk of spina bifida (odds ratio = 0.60, 95%CI = 0.38–0.94). The PCYT1A SNP rs939883 genotype AA was associated with a twofold increased risk of spina bifida (odds ratio = 1.89, 95% CI = 0.97–3.67). These gene-only effects were not substantially modified by analytic consideration to maternal periconceptional choline intake. Conclusion Our analyses showed genotype effects of CHKA and PCYT1A genes on spina bifida risk, but did not show evidence of gene-nutrient interactions. The underlying mechanisms are yet to be resolved. PMID:17184542

A Review of the Potential for Cardiometabolic Dysfunction in Youth with Spina Bifida and the Role for Physical Activity and Structured Exercise

PubMed Central

Short, Kevin R.; Frimberger, Dominic

2012-01-01

Children and adolescents who have decreased mobility due to spina bifida may be at increased risk for the components of metabolic syndrome, including abdominal obesity, insulin resistance, and dyslipidemia due to low physical activity. Like their nondisabled peers, adolescents with spina bifida that develop metabolic risk factors early in life have set the stage for adult disease. Exercise interventions can improve metabolic dysfunction in nondisabled youth, but the types of exercise programs that are most effective and the mechanisms involved are not known. This is especially true in adolescents with spina bifida, who have impaired mobility and physical function and with whom there have been few well-controlled studies. This paper highlights the current lack of knowledge about the role of physical activity and the need to develop exercise strategies targeting the reduction of cardiometabolic risk and improving quality of life in youth with spina bifida. PMID:22778758

A review of the potential for cardiometabolic dysfunction in youth with spina bifida and the role for physical activity and structured exercise.

PubMed

Short, Kevin R; Frimberger, Dominic

2012-01-01

Children and adolescents who have decreased mobility due to spina bifida may be at increased risk for the components of metabolic syndrome, including abdominal obesity, insulin resistance, and dyslipidemia due to low physical activity. Like their nondisabled peers, adolescents with spina bifida that develop metabolic risk factors early in life have set the stage for adult disease. Exercise interventions can improve metabolic dysfunction in nondisabled youth, but the types of exercise programs that are most effective and the mechanisms involved are not known. This is especially true in adolescents with spina bifida, who have impaired mobility and physical function and with whom there have been few well-controlled studies. This paper highlights the current lack of knowledge about the role of physical activity and the need to develop exercise strategies targeting the reduction of cardiometabolic risk and improving quality of life in youth with spina bifida.

Mood-Stabilizing Anticonvulsants, Spina Bifida, and Folate Supplementation: Commentary.

PubMed

Patel, Neil; Viguera, Adele C; Baldessarini, Ross J

2018-02-01

High risks of neural tube defects and other teratogenic effects are associated with exposure in early pregnancy to some anticonvulsants, including in women with bipolar disorder. Based on a semistructured review of recent literature, we summarized findings pertaining to this topic. Valproate and carbamazepine are commonly used empirically (off-label) for putative long-term mood-stabilizing effects. Both anticonvulsants have high risks of teratogenic effects during pregnancy. Risks of neural tube defects (especially spina bifida) and other major malformations are especially great with valproate and can arise even before pregnancy is diagnosed. Standard supplementation of folic acid during pregnancy can reduce risk of spontaneous spina bifida, but not that associated with valproate or carbamazepine. In contrast, lamotrigine has regulatory approval for long-term use in bipolar disorder and appears not to have teratogenic effects in humans. Lack of protective effects against anticonvulsant-associated neural tube defects by folic acid supplements in anticipation of and during pregnancy is not widely recognized. This limitation and high risks of neural tube and other major teratogenic effects, especially of valproate, indicate the need for great caution in the use of valproate and carbamazepine to treat bipolar disorder in women of child-bearing age.

Handwriting Skills in Children with Spina Bifida: Assessment, Monitoring and Measurement.

ERIC Educational Resources Information Center

Hancock, Julie; Alston, Jean

1986-01-01

Case studies of three students with spina bifida (ages 8-11) illustrate an individualized six-week handwriting intervention program which stressed assessment, monitoring, and measurement of changes in writing performance. Appropriate changes in physical support (sitting position, writing surface, and choice of writing tool) are recommended. (JW)

The Management and Education of Children with Spina Bifida and Hydrocephalus.

ERIC Educational Resources Information Center

Andrews, Robert J.; Elkins, John

The report describes the population of children in Australia with spina bifida and/or hydrocephalus, notes their needs and characteristics, reviews their school placement and social circumstances, and considers future educational services for them. Initial chapters review the literature on medical, psychoeducational, and social-family aspects of…

38 CFR 3.814 - Monetary allowance under 38 U.S.C. chapter 18 for an individual suffering from spina bifida whose...

Code of Federal Regulations, 2013 CFR

2013-07-01

... is or was a Vietnam veteran or a veteran with covered service in Korea. 3.814 Section 3.814 Pensions... for an individual suffering from spina bifida whose biological father or mother is or was a Vietnam... an individual suffering from spina bifida whose biological mother or father is or was a Vietnam...

38 CFR 3.814 - Monetary allowance under 38 U.S.C. chapter 18 for an individual suffering from spina bifida whose...

Code of Federal Regulations, 2012 CFR

2012-07-01

... is or was a Vietnam veteran or a veteran with covered service in Korea. 3.814 Section 3.814 Pensions... for an individual suffering from spina bifida whose biological father or mother is or was a Vietnam... an individual suffering from spina bifida whose biological mother or father is or was a Vietnam...

38 CFR 3.814 - Monetary allowance under 38 U.S.C. chapter 18 for an individual suffering from spina bifida whose...

Code of Federal Regulations, 2014 CFR

2014-07-01

... is or was a Vietnam veteran or a veteran with covered service in Korea. 3.814 Section 3.814 Pensions... for an individual suffering from spina bifida whose biological father or mother is or was a Vietnam... an individual suffering from spina bifida whose biological mother or father is or was a Vietnam...

Air toxics and birth defects: a Bayesian hierarchical approach to evaluate multiple pollutants and spina bifida.

PubMed

Swartz, Michael D; Cai, Yi; Chan, Wenyaw; Symanski, Elaine; Mitchell, Laura E; Danysh, Heather E; Langlois, Peter H; Lupo, Philip J

2015-02-09

While there is evidence that maternal exposure to benzene is associated with spina bifida in offspring, to our knowledge there have been no assessments to evaluate the role of multiple hazardous air pollutants (HAPs) simultaneously on the risk of this relatively common birth defect. In the current study, we evaluated the association between maternal exposure to HAPs identified by the United States Environmental Protection Agency (U.S. EPA) and spina bifida in offspring using hierarchical Bayesian modeling that includes Stochastic Search Variable Selection (SSVS). The Texas Birth Defects Registry provided data on spina bifida cases delivered between 1999 and 2004. The control group was a random sample of unaffected live births, frequency matched to cases on year of birth. Census tract-level estimates of annual HAP levels were obtained from the U.S. EPA's 1999 Assessment System for Population Exposure Nationwide. Using the distribution among controls, exposure was categorized as high exposure (>95(th) percentile), medium exposure (5(th)-95(th) percentile), and low exposure (<5(th) percentile, reference). We used hierarchical Bayesian logistic regression models with SSVS to evaluate the association between HAPs and spina bifida by computing an odds ratio (OR) for each HAP using the posterior mean, and a 95% credible interval (CI) using the 2.5(th) and 97.5(th) quantiles of the posterior samples. Based on previous assessments, any pollutant with a Bayes factor greater than 1 was selected for inclusion in a final model. Twenty-five HAPs were selected in the final analysis to represent "bins" of highly correlated HAPs (ρ > 0.80). We identified two out of 25 HAPs with a Bayes factor greater than 1: quinoline (ORhigh = 2.06, 95% CI: 1.11-3.87, Bayes factor = 1.01) and trichloroethylene (ORmedium = 2.00, 95% CI: 1.14-3.61, Bayes factor = 3.79). Overall there is evidence that quinoline and trichloroethylene may be significant contributors to the risk of spina bifida

Mother–Adolescent Agreement Regarding Decision-Making Autonomy: A Longitudinal Comparison of Families of Adolescents with and without Spina Bifida

PubMed Central

Devine, Katie A.; Wasserman, Rachel M.; Gershenson, Lily S.; Essner, Bonnie S.

2011-01-01

Objective Longitudinal comparison of mother and adolescent agreement regarding decision-making autonomy for adolescents with and without spina bifida (SB). Methods Forty-two mother–adolescent dyads of adolescents with SB and 55 comparison dyads reported on who was responsible for decision-making across five waves of data collection, beginning at age 8 or 9 years through age 16 or 17 years. Results The proportion of tasks that dyads agreed were decided by adolescents increased over time for both samples beginning at age 12 or 13 years, but appeared to be delayed by roughly two years for youth with SB and was lower for youth with SB from lower socioeconomic (SES) backgrounds. Mothers and adolescents with low SES demonstrated higher proportions of tasks that dyads agreed were decided by mothers. Conclusions SB and low SES are risk factors for lower levels of agreed-upon decision-making autonomy. Future studies should examine how parent–adolescent agreement regarding autonomy relates to psychosocial outcomes. PMID:20943730

Anomalous Development of Brain Structure and Function in Spina Bifida Myelomeningocele

ERIC Educational Resources Information Center

Juranek, Jenifer; Salman, Michael S.

2010-01-01

Spina bifida myelomeningocele (SBM) is a specific type of neural tube defect whereby the open neural tube at the level of the spinal cord alters brain development during early stages of gestation. Some structural anomalies are virtually unique to individuals with SBM, including a complex pattern of cerebellar dysplasia known as the Chiari II…

Spina bifida and cleft lip among newborns of Norwegian women with epilepsy: changes related to the use of anticonvulsants.

PubMed Central

King, P B; Lie, R T; Irgens, L M

1996-01-01

OBJECTIVES: This study examined the connection between the use of anticonvulsants for epilepsy during or before pregnancy and the risk of spina bifida and cleft lip in newborns. METHODS: Among mothers registered from 1967 to 1992 by the Medical Birth Registry of Norway, 7588 who had epilepsy were identified and their newborns' prevalence of spina bifida and cleft lip examined. RESULTS: The odds ratio of spina bifida in children of mothers with epilepsy compared with other children increased from 1.5 in 1967 through 1980 (95% confidence interval [CI] = 0.3, 4.5) to 4.4 in 1981 through 1992 (95% CI = 2.0, 8.5). The odds ratio of cleft lip, however, decreased from 3.0 before 1981 (95% CI = 1.6, 5.1) to 1.1 after 1981 (95% CI = 0.4, 2.3). CONCLUSIONS: This shift toward more serious birth defects is consistent with the different teratogenic effects of newer and older anticonvulsants. PMID:8876519

Epidemiologic and Genetic Aspects of Spina Bifida and Other Neural Tube Defects

ERIC Educational Resources Information Center

Au, Kit Sing; Ashley-Koch, Allison; Northrup, Hope

2010-01-01

The worldwide incidence of neural tube defects (NTDs) ranges from 1.0 to 10.0 per 1,000 births with almost equal frequencies between two major categories: anencephaly and spina bifida (SB). Epidemiological studies have provided valuable insight for (a) researchers to identify nongenetic and genetic factors contributing to etiology, (b) public…

Transition to Adult Health Care for Adolescents with Spina Bifida: Research Issues

ERIC Educational Resources Information Center

Sawyer, Susan M.; Macnee, Sarah

2010-01-01

The increasing survival of children and young people with congenital disabilities such as spina bifida (SB) provides a challenge to health care systems globally about how best to respond to the multitude of health, developmental, and psychosocial needs of those affected by this complex disorder across the lifespan, not just in childhood and…

Design and Methodological Considerations of the Centers for Disease Control and Prevention Urologic and Renal Protocol for the Newborn and Young Child with Spina Bifida

PubMed Central

Routh, Jonathan C.; Cheng, Earl Y.; Austin, J. Christopher; Baum, Michelle A.; Gargollo, Patricio C.; Grady, Richard W.; Herron, Adrienne R.; Kim, Steven S.; King, Shelly J.; Koh, Chester J.; Paramsothy, Pangaja; Raman, Lisa; Schechter, Michael S.; Smith, Kathryn A.; Tanaka, Stacy T.; Thibadeau, Judy K.; Walker, William O.; Wallis, M. Chad; Wiener, John S.; Joseph, David B.

2016-01-01

Purpose Care of children with spina bifida has significantly advanced in the last half century, resulting in gains in longevity and quality of life for affected children and caregivers. Bladder dysfunction is the norm in patients with spina bifida and may result in infection, renal scarring and chronic kidney disease. However, the optimal urological management for spina bifida related bladder dysfunction is unknown. Materials and Methods In 2012 the Centers for Disease Control and Prevention convened a working group composed of pediatric urologists, nephrologists, epidemiologists, methodologists, community advocates and Centers for Disease Control and Prevention personnel to develop a protocol to optimize urological care of children with spina bifida from the newborn period through age 5 years. Results An iterative quality improvement protocol was selected. In this model participating institutions agree to prospectively treat all newborns with spina bifida using a single consensus based protocol. During the 5-year study period outcomes will be routinely assessed and the protocol adjusted as needed to optimize patient and process outcomes. Primary study outcomes include urinary tract infections, renal scarring, renal function and bladder characteristics. The protocol specifies the timing and use of testing (eg ultrasonography, urodynamics) and interventions (eg intermittent catheterization, prophylactic antibiotics, antimuscarinic medications). Starting in 2014 the Centers for Disease Control and Prevention began funding 9 study sites to implement and evaluate the protocol. Conclusions The Centers for Disease Control and Prevention Urologic and Renal Protocol for the Newborn and Young Child with Spina Bifida began accruing patients in 2015. Assessment in the first 5 years will focus on urinary tract infections, renal function, renal scarring and clinical process improvements. PMID:27475969

Posterior brain in fetuses with open spina bifida at 11 to 13 weeks.

PubMed

Lachmann, Robert; Chaoui, Rabih; Moratalla, Jose; Picciarelli, Gemma; Nicolaides, Kypros H

2011-01-01

To measure the changes in the posterior fossa in first-trimester fetuses with open spina bifida (OSB). The brain stem diameter and brain stem to occipital bone (BSOB) diameter were measured in stored images of the mid-sagittal view of the fetal face at 11(+0) to 13(+6) weeks from 30 fetuses with OSB and 1000 normal controls. In the control group, the brain stem and BSOB diameter increased significantly with crown-rump length (CRL) and the brain stem to BSOB ratio decreased. In the spina bifida group, the brain stem diameter was above the 95th percentile of the control group in 29 (96.7%) cases, the BSOB diameter was below the 5th percentile in 26 (86.7%) and the brain stem to BSOB ratio was above the 95th percentile in all cases. At 11 to 13 weeks the majority of fetuses with OSB have measurable abnormalities in the posterior brain.

Accessibility of mHealth Self-Care Apps for Individuals with Spina Bifida

PubMed Central

Yu, Daihua X.; Parmanto, Bambang; Dicianno, Brad E.; Pramana, Gede

2015-01-01

As the smartphone becomes ubiquitous, mobile health is becoming a viable technology to empower individuals to engage in preventive self-care. An innovative mobile health system called iMHere (Internet Mobile Health and Rehabilitation) has been developed at the University of Pittsburgh to support self-care and adherence to self-care regimens for individuals with spina bifida and other complex conditions who are vulnerable to secondary complications. The goal of this study was to explore the accessibility of iMHere apps for individuals with spina bifida. Six participants were asked to perform tasks in a lab environment. Though all of the participants were satisfied with the iMHere apps and would use them again in the future, their needs and preferences to access and use iMHere apps differed. Personalization that provides the ability for a participant to modify the appearance of content, such as the size of the icons and the color of text, could be an ideal solution to address potential issues and barriers to accessibility. The importance of personalization—and potential strategies—for accessibility are discussed. PMID:26755902

Prevalence of and risk factors for latex sensitization in patients with spina bifida.

PubMed

Bernardini, R; Novembre, E; Lombardi, E; Mezzetti, P; Cianferoni, A; Danti, A D; Mercurella, A; Vierucci, A

1998-11-01

We determined the prevalence of and risk factors for latex sensitization in patients with spina bifida. A total of 59 consecutive subjects 2 to 40 years old with spina bifida answered a questionnaire, and underwent a latex skin prick test and determination of serum IgE specific for latex by RAST CAP radioimmunoassay. We also noted the relationships of total serum IgE skin prick tests to common air and food allergens. In addition, skin prick plus prick tests were also done with fresh foods, including kiwi, pear, orange, almond, pineapple, apple, tomato and banana. Latex sensitization was present in 15 patients (25%) according to the presence of IgE specific to latex, as detected by a skin prick test in 9 and/or RAST CAP in 13. Five latex sensitized patients (33.3%) had clinical manifestations, such as urticaria, conjuctivitis, angioedema, rhinitis and bronchial asthma, while using a latex glove and inflating a latex balloon. Atopy was present in 21 patients (35.6%). In 14 patients (23%) 1 or more skin tests were positive for fresh foods using a prick plus prick technique. Tomato, kiwi, and pear were the most common skin test positive foods. Univariate analysis revealed that a history of 5 or more operations, atopy and positive prick plus prick tests results for pear and kiwi were significantly associated with latex sensitization. Multivariate analysis demonstrated that only atopy and a history of 5 or more operations were significantly and independently associated with latex sensitization. A fourth of the patients with spina bifida were sensitized to latex. Atopy and an elevated number of operations were significant and independent predictors of latex sensitization in these cases.

Global Birth Prevalence of Spina Bifida by Folic Acid Fortification Status: A Systematic Review and Meta-Analysis.

PubMed

Atta, Callie A M; Fiest, Kirsten M; Frolkis, Alexandra D; Jette, Nathalie; Pringsheim, Tamara; St Germaine-Smith, Christine; Rajapakse, Thilinie; Kaplan, Gilaad G; Metcalfe, Amy

2016-01-01

Birth defects remain a significant source of worldwide morbidity and mortality. Strong scientific evidence shows that folic acid fortification of a region's food supply leads to a decrease in spina bifida (a birth defect of the spine). Still, many countries around the world have yet to approve mandatory fortification through government legislation. We sought to perform a systematic review and meta-analysis of period prevalence of spina bifida by folic acid fortification status, geographic region, and study population. An expert research librarian used terms related to neural tube defects and epidemiology from primary research from 1985 to 2010 to search in EMBASE and MEDLINE. We searched the reference lists of included articles and key review articles identified by experts. Inclusion criteria included studies in English or French reporting on prevalence published between January 1985 and December 2010 that (1) were primary research, (2) were population-based, and (3) reported a point or period prevalence estimate of spina bifida (i.e., prevalence estimate with confidence intervals or case numerator and population denominator). Two independent reviewers screened titles and abstracts for eligible articles, then 2 authors screened full texts in duplicate for final inclusion. Disagreements were resolved through consensus or a third party. We followed Preferred Reporting Items for Systematic Reviews and Meta-Analyses, or PRISMA, abstracting data related to case ascertainment, study population, folic acid fortification status, geographic region, and prevalence estimate independently and in duplicate. We extracted overall data and any subgroups reported by age, gender, time period, or type of spina bifida. We classified each period prevalence estimate as "mandatory" or "voluntary" folic acid fortification according to each country's folic acid fortification status at the time data were collected (as determined by a well-recognized fortification monitoring body, Food

Design and Methodological Considerations of the Centers for Disease Control and Prevention Urologic and Renal Protocol for the Newborn and Young Child with Spina Bifida.

PubMed

Routh, Jonathan C; Cheng, Earl Y; Austin, J Christopher; Baum, Michelle A; Gargollo, Patricio C; Grady, Richard W; Herron, Adrienne R; Kim, Steven S; King, Shelly J; Koh, Chester J; Paramsothy, Pangaja; Raman, Lisa; Schechter, Michael S; Smith, Kathryn A; Tanaka, Stacy T; Thibadeau, Judy K; Walker, William O; Wallis, M Chad; Wiener, John S; Joseph, David B

2016-12-01

Care of children with spina bifida has significantly advanced in the last half century, resulting in gains in longevity and quality of life for affected children and caregivers. Bladder dysfunction is the norm in patients with spina bifida and may result in infection, renal scarring and chronic kidney disease. However, the optimal urological management for spina bifida related bladder dysfunction is unknown. In 2012 the Centers for Disease Control and Prevention convened a working group composed of pediatric urologists, nephrologists, epidemiologists, methodologists, community advocates and Centers for Disease Control and Prevention personnel to develop a protocol to optimize urological care of children with spina bifida from the newborn period through age 5 years. An iterative quality improvement protocol was selected. In this model participating institutions agree to prospectively treat all newborns with spina bifida using a single consensus based protocol. During the 5-year study period outcomes will be routinely assessed and the protocol adjusted as needed to optimize patient and process outcomes. Primary study outcomes include urinary tract infections, renal scarring, renal function and bladder characteristics. The protocol specifies the timing and use of testing (eg ultrasonography, urodynamics) and interventions (eg intermittent catheterization, prophylactic antibiotics, antimuscarinic medications). Starting in 2014 the Centers for Disease Control and Prevention began funding 9 study sites to implement and evaluate the protocol. The Centers for Disease Control and Prevention Urologic and Renal Protocol for the Newborn and Young Child with Spina Bifida began accruing patients in 2015. Assessment in the first 5 years will focus on urinary tract infections, renal function, renal scarring and clinical process improvements. Copyright © 2016 American Urological Association Education and Research, Inc. Published by Elsevier Inc. All rights reserved.

The Arnold-Chiari Malformation and Its Implications for Individuals with Spina Bifida and Hydrocephalus.

ERIC Educational Resources Information Center

Mittler, Joel E.

1986-01-01

The Arnold-Chiari malformation is present in most infants born with myelomeningocele (a form of spina bifida) and hydrocephalus. The syndrome is responsible for structural abnormalities in the brain, and peripheral nervous system. Etiology, symptoms, impact on central nervous system structures, surgical treatment, and implications for education…

Parental stress and support of parents of children with spina bifida in Uganda.

PubMed

Bannink, Femke; Idro, Richard; van Hove, Geert

2016-01-01

Children with disabilities in Sub-Saharan Africa depend for a large part of their functioning on their parent or caregiver. This study explores parental stress and support of parents of children with spina bifida in Uganda. The study aimed to explore perceived stress and support of parents of children with spina bifida living in Uganda and the factors that influence them. A total of 134 parents were interviewed. Focus group discussions were held with four parent support groups in four different regions within the country. The Vineland Adaptive Behaviour Scales, Daily Functioning Subscales and Parental Stress Index Short Form (PSI/SF) were administered to measure the child's daily functioning level and parental stress levels. Parental stress was high in our study population with over half of the parents having a > 90% percentile score on the PSI/SF. Stress outcomes were related to the ability to walk (Spearman's correlation coefficient [ ρ ] = -0.245), continence ( ρ = -0.182), use of clean intermittent catheterisation (ρ = -0.181) and bowel management ( ρ = -0.213), receiving rehabilitative care ( ρ = -0.211), household income ( ρ = -0.178), geographical region ( ρ = -0.203) and having support from another parent in taking care of the child ( ρ = -0.234). Linear regression showed parental stress was mostly explained by the child's inability to walk ( β = -0.248), practicing bowel management ( β = -0.468) and having another adult to provide support in caring for the child ( β = -0.228). Parents in northern Uganda had significantly higher scores compared to parents in other regions (Parental Distress, F = 5.467*; Parent-Child Dysfunctional Interaction, F = 8.815**; Difficult Child score, F = 10.489**). Parents of children with spina bifida experience high levels of stress. To reduce this stress, rehabilitation services should focus on improving mobility. Advocacy to reduce stigmatisation and peer support networks also need to be strengthened and developed.

The Influence of Juggling on Mental Rotation Performance in Children with Spina Bifida

ERIC Educational Resources Information Center

Lehmann, Jennifer; Jansen, Petra

2012-01-01

This study examined the influence of juggling training on mental rotation ability in children with spina bifida. Children between the ages of 8 and 12 solved a chronometric mental rotation test. Half of the children received juggling training (EG) over an 8 week time period; the other half did not receive training (CG). Afterwards, all…

Inferential Ability in Children with Cerebral Palsy, Spina Bifida and Pragmatic Language Impairment

ERIC Educational Resources Information Center

Holck, Pernille; Sandberg, Annika Dahlgren; Nettelbladt, Ulrika

2010-01-01

The aim of the study was to investigate and compare the ability to make inferences in three groups of children ranging from 5;2 to 10;9 years: 10 children with cerebral palsy (CP), 10 children with spina bifida and hydrocephalus (SBH) and 10 children with pragmatic language impairment (PLI). The relationship between inferential and literal…

Surrogate Pregnancy After Prenatal Diagnosis of Spina Bifida.

PubMed

Mazur, Lynnette J; Kisthardt, Mary Kay; Kim, Helen H; Rosas, Laura M; Lantos, John D

2017-02-01

Some pregnancies today involve infertile individuals or couples who contract with a fertile woman to carry a pregnancy for them. The woman who carries the pregnancy is referred to as a "gestational carrier." The use of such arrangements is increasing. Most of the time, these arrangements play out as planned; sometimes, however, problems arise. This article discusses a case in which a fetal diagnosis of spina bifida led the infertile couple to request that the gestational carrier terminate the pregnancy, and the gestational carrier did not wish to do so. Experts in the medical and legal issues surrounding surrogacy discuss the considerations that should go into resolving such a conflict. Copyright © 2017 by the American Academy of Pediatrics.

The Language of Children with Spina Bifida and Hydrocephalus: Meeting Task Demands and Mastering Syntax.

ERIC Educational Resources Information Center

Byrne, Karen; And Others

1990-01-01

Linguistic performance of 7 children (mean age=68 months) with spina bifida, hydrocephalus, and average intelligence was evaluated. Subjects dealt with the semantic-pragmatic requirements of linguistically posed problems in an age-appropriate manner. Performance declined as task demands increased but no more than performance of nondisabled…

The effect of spinal cord level on sexual function in the spina bifida population.

PubMed

Lee, N G; Andrews, E; Rosoklija, I; Logvinenko, T; Johnson, E K; Oates, R D; Estrada, C R

2015-06-01

Sexual dysfunction and infertility are prevalent in the spina bifida (SB) population; however, the mechanism of how they affect a person with spina bifida is poorly understood. Additionally, the management of children with spina bifida becomes more difficult as they exit from pediatric institutes. The present study sought to evaluate sexual health (using validated questionnaires) and fertility in adults with spina bifida and to correlate spinal cord level and ambulatory status with degree of sexual function. After institutional board review approval, 199 adult patients with SB, aged 18 and older and who were followed in one pediatric institution, were identified. Patients who were non-English speaking, cognitively and/or developmentally delayed, or unable to be contacted were excluded. Surveys regarding demographics, sexual health and infertility were mailed to the patients and administered in the clinic with the option to opt-out of the survey. Survey questions regarding sexual health were constructed using validated questionnaires: Female Sexual Function Index (FSFI) for females, and International Index of Erectile Function (IIEF) and Sexual Health Inventory for Men (SHIM) for males. Sexual dysfunction scores were correlated to the patients' spinal level and ambulatory status. Of the 121 eligible patients, 45 replied, with a response rate of 39%. For females, using a cut-off value of 26.5 for FSFI scoring, 25 out of 28 (89%) had sexual dysfunction. No association was seen between spinal level or ambulatory status and overall FSFI, satisfaction, or desire scores. For males, 10 out of 17 (59%) had severe erectile dysfunction (ED), and one out of 17 (6%) had no ED. No association was seen between ambulatory status and sexual function scores for the males. However, SHIM, satisfaction, and ED scores were higher in males with lower spinal lesions. People with spina bifida of both genders tended to have more severe dysfunction compared to those with sexual dysfunction

Is continence status associated with quality of life in young children with spina bifida?

PubMed

Freeman, Kurt A; Smith, Kathryn; Adams, Elizabeth; Mizokawa, Stacey; Neville-Jan, Ann

2013-01-01

To evaluate the relationship between child- and parent-reported quality of life (QOL) and bowel and bladder continence among young children with spina bifida (SB). 104 children ages 5-12 years and one of their parents/guardians completed the Pediatric Quality of Life Inventory - Generic Form (PedsQL; parent and child) and the Quality of Life in Spina Bifida Questionnaire (QOLSBQ, parent only). Data on continence, child age, and condition-specific variables were obtained by chart review. Parent and child QOL scores (on all measures of QOL) were positively correlated; parents rated child QOL lower than children's self report. QOL scores did not differ based on continence status. Total PedsQL scores were associated with age and mobility based on child report and with mobility based on parent report. QOL may not be affected by continence status among young children with SB, though demographic (i.e., age) and condition-specific (i.e., functional mobility status) variables appear relevant. Additional research is needed to further evaluate condition-specific variables, other protective variables, and possible measurement issues that influence QOL in young children with SB.

Arithmetic Processing in Children with Spina Bifida: Calculation Accuracy, Strategy Use, and Fact Retrieval Fluency

ERIC Educational Resources Information Center

Barnes, Marcia A.; Wilkinson, Margaret; Khemani, Ekta; Boudesquie, Amy; Dennis, Maureen; Fletcher, Jack M.

2006-01-01

Three studies compared 98 children with spina bifida myelomeningocele (SBM)--a disorder associated with high rates of math disability and spatial deficits--to 94 typically developing children on multidigit subtraction and cognitive addition tasks. Children with SBM were classified into those with reading decoding and math disability, only math…

Screening of polymorphisms for MTHFR and DHFR genes in spina bifida children and their mothers

NASA Astrophysics Data System (ADS)

Husna, M. Z.; Endom, I.; Ibrahim, S.; Selvi, N. Amaramalar; Fakhrurazi, H.; Htwe, R. Ohnmar; Kanehaswari, Y.; Halim, A. R. Abdul; Wong, S. W.; Subashini, K.; Syahira, O. Nur; Aishah, S.

2013-11-01

Mechanism underlying the beneficial effect of folic acid supplementation in reducing the risk of neural tube defect is still not well understood. Current evidences show the involvement of folic acid metabolic gene's polymorphism as contributing factors that regulate this pathway. Therefore, the objective of this research was to determine the presence of C677T polymorphism for methylenetetrahydrofolate reductase (MTHFR) and dihydrofolate reductase (DHFR-19 bp deletion) genes between mother-children pairs of case and control. With the approval of UKMMC ethic committee, genomic DNA was extracted from one hundred and forty consented bloods. Polymerase chain reaction (PCR), PCR-RFLP (Restriction Fragment Length Polymorphism) and sequencing were employed to verify each nucleotide change. Our result shows that mutant MTHFR and DHFR alleles are present in all Malaysian sub-ethnic groups, case and control. Even though mutant MTHFR are found to be slightly higher in the case groups, 75% of the affected child is a non carrier for this allele and 62.5% of the mothers with an affected child are genotypically normal. For DHFR, almost all (87.5-100%) investigated samples are a carrier or having a double DHFR deletion be it a case or control pairs. However, strong maternal inheritance shown by the deleted allele might be due to a cascade effect of lacks of folate consumption or maternal uniparental disomy. In conclusion, the use of MTHFR and DHFR as markers in determining the risk of having spina bifida baby is uninformative and plays a small indirect role as the genetic causes of spina bifida. Therefore, spina bifida remains etiologically unknown polygenic and quantitative developmental trait whereby the searches for positive genetic marker need to be continued.

Arm cranking versus wheelchair propulsion for testing aerobic fitness in children with spina bifida who are wheelchair dependent.

PubMed

Bloemen, Manon A T; de Groot, Janke F; Backx, Frank J G; Westerveld, Rosalyne A; Takken, Tim

2015-05-01

To determine the best test performance and feasibility using a Graded Arm Cranking Test vs a Graded Wheelchair Propulsion Test in young people with spina bifida who use a wheelchair, and to determine the reliability of the best test. Validity and reliability study. Young people with spina bifida who use a wheelchair. Physiological responses were measured during a Graded Arm Cranking Test and a Graded Wheelchair Propulsion Test using a heart rate monitor and calibrated mobile gas analysis system (Cortex Metamax). For validity, peak oxygen uptake (VO2peak) and peak heart rate (HRpeak) were compared using paired t-tests. For reliability, the intra-class correlation coefficients, standard error of measurement, and standard detectable change were calculated. VO2peak and HRpeak were higher during wheelchair propulsion compared with arm cranking (23.1 vs 19.5 ml/kg/min, p = 0.11; 165 vs 150 beats/min, p < 0.05). Reliability of wheelchair propulsion showed high intra-class correlation coefficients (ICCs) for both VO2peak (ICC = 0.93) and HRpeak (ICC = 0.90). This pilot study shows higher HRpeak and a tendency to higher VO2peak in young people with spina bifida who are using a wheelchair when tested during wheelchair propulsion compared with arm cranking. Wheelchair propulsion showed good reliability. We recommend performing a wheelchair propulsion test for aerobic fitness testing in this population.

Parental stress and support of parents of children with spina bifida in Uganda

PubMed Central

Idro, Richard; van Hove, Geert

2016-01-01

Background Children with disabilities in Sub-Saharan Africa depend for a large part of their functioning on their parent or caregiver. This study explores parental stress and support of parents of children with spina bifida in Uganda. Objectives The study aimed to explore perceived stress and support of parents of children with spina bifida living in Uganda and the factors that influence them. Methods A total of 134 parents were interviewed. Focus group discussions were held with four parent support groups in four different regions within the country. The Vineland Adaptive Behaviour Scales, Daily Functioning Subscales and Parental Stress Index Short Form (PSI/SF) were administered to measure the child’s daily functioning level and parental stress levels. Results Parental stress was high in our study population with over half of the parents having a > 90% percentile score on the PSI/SF. Stress outcomes were related to the ability to walk (Spearman’s correlation coefficient [ρ] = −0.245), continence (ρ = −0.182), use of clean intermittent catheterisation (ρ = −0.181) and bowel management (ρ = −0.213), receiving rehabilitative care (ρ = −0.211), household income (ρ = −0.178), geographical region (ρ = −0.203) and having support from another parent in taking care of the child (ρ = −0.234). Linear regression showed parental stress was mostly explained by the child’s inability to walk (β = −0.248), practicing bowel management (β = −0.468) and having another adult to provide support in caring for the child (β = −0.228). Parents in northern Uganda had significantly higher scores compared to parents in other regions (Parental Distress, F = 5.467*; Parent–Child Dysfunctional Interaction, F = 8.815**; Difficult Child score, F = 10.489**). Conclusion Parents of children with spina bifida experience high levels of stress. To reduce this stress, rehabilitation services should focus on improving mobility. Advocacy to reduce stigmatisation

Small renal size in newborns with spina bifida: possible causes.

PubMed

Montaldo, Paolo; Montaldo, Luisa; Iossa, Azzurra Concetta; Cennamo, Marina; Caredda, Elisabetta; Del Gado, Roberto

2014-02-01

Previous studies reported that children with neural tube defects, but without any history of intrinsic renal diseases, have small kidneys when compared with age-matched standard renal growth. The aim of this study was to investigate the possible causes of small renal size in children with spina bifida by comparing growth hormone deficiency, physical limitations and hyperhomocysteinemia. The sample included 187 newborns with spina bifida. Renal sizes in the patients were assessed by using maximum measurement of renal length and the measurements were compared by using the Sutherland monogram. According to the results, the sample was divided into two groups--a group of 120 patients with small kidneys (under the third percentile) and a control group of 67 newborns with normal kidney size. Plasma total homocysteine was investigated in mothers and in their children. Serum insulin-like growth factor-1 (IGF-1) levels were measured. Serum IGF-1 levels were normal in both groups. Children and mothers with homocysteine levels >10 μmol/l were more than twice as likely to have small kidneys and to give to birth children with small kidneys, respectively, compared with newborns and mothers with homocysteine levels <10 μmol/l. An inverse correlation was also found between the homocysteine levels of mothers and kidney sizes of children (r = - 0.6109 P ≤ 0.01). It is highly important for mothers with hyperhomocysteinemia to be educated about benefits of folate supplementation in order to reduce the risk of small renal size and lower renal function in children.

Mother and Child Depressive Symptoms in Youth with Spina Bifida: Additive, Moderator, and Mediator Models

ERIC Educational Resources Information Center

Schellinger, Kriston B.; Holmbeck, Grayson N.; Essner, Bonnie S.; Alvarez, Renae

2012-01-01

The purpose of the study was to examine the extent to which parenting behaviors influence the relation between maternal and child depressive symptoms in youth with spina bifida and a comparison sample. Previous research has found that maternal depression not only negatively impacts the mother-child relationship, but also places the child at risk…

Transition into adult healthcare services in Scotland: findings from a study concerning service users at the Scottish Spina Bifida Association.

PubMed

Levy, Sharon; Wynd, Andrew H D; Carachi, Robert

2014-11-01

Literature on interventions that enable young people with spina bifida and/or hydrocephalus to have smooth transition, into adult healthcare services, stress the need for the process to start early and to include all family members. The study reported here was set to quantify and articulate the experiences of service users who are or due to be going through the transition process in Scotland today. Focus group sessions, in the North of Scotland and in the 'Central Belt', captured rich qualitative data. A survey, sent to eligible participants on the Spina Bifida National database, offered complimentary data source. Despite the fact that the number of returned questionnaires was low (n = 20), data analysis identified a number of core recurring themes. These include issues concerning Communications, Respect, Choice and Control. Findings suggest that there is a significant chasm between the political rhetoric and the reality faced by young people with spina bifida moving to adult healthcare services. A possible way to facilitate successful transition of young people is using personal healthcare information as the locus for needed change. More research is needed to ascertain whether a 'Person-Centred Record', which is set to empower young people on their transition pathway, is an appropriate transition tool. © The Author(s) 2014 Reprints and permissions: sagepub.co.uk/journalsPermissions.nav.

Children with Cerebral Palsy, Spina Bifida and Pragmatic Language Impairment: Differences and Similarities in Pragmatic Ability

ERIC Educational Resources Information Center

Holck, Pernille; Nettelbladt, Ulrika; Sandberg, Annika Dahlgren

2009-01-01

Pragmatically related abilities were studied in three clinical groups of children from 5 to 11 years of age; children with cerebral palsy (CP; n = 10), children with spina bifida and hydrocephalus (SBH; n = 10) and children with pragmatic language impairment (PLI; n = 10), in order to explore pragmatic abilities within each group. A range of…

Social Skills in Youth With Spina Bifida: A Longitudinal Multimethod Investigation Comparing Biopsychosocial Predictors.

PubMed

Holbein, Christina E; Peugh, James L; Holmbeck, Grayson N

2017-11-01

To examine the relative contributions of neuropsychological (attention and executive function), family (cohesion and conflict), and health (body mass index, lesion level, gross motor function) domains on social skills over time in youth with spina bifida (SB). In all, 140 youth with SB (T1 mean age = 11.43 years) and their families participated in the study at baseline with an additional visit 2 years later. Study variables were assessed with multiple methods (questionnaire, medical chart review, observation, neuropsychological tests) and reporters (parents, teachers). Multivariate hierarchical linear regressions determined the predictive power of the three domains for T2 social skills. Neuropsychological variables accounted for significant variance in mother- and father-reported T2 social skills. Neither family nor health variables contributed significantly to later social skills when other domains were included in the model. Neuropsychological factors are particularly important for social skill development in youth with SB. Findings can inform screening and intervention practices. © The Author 2017. Published by Oxford University Press on behalf of the Society of Pediatric Psychology. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com

The role of ethnicity and culture on functional status in children with spina bifida.

PubMed

Chowanadisai, Montida; de la Rosa Perez, Deeni L; Weitzenkamp, David A; Wilcox, Duncan T; Clayton, Gerald H; Wilson, Pamela E

2013-01-01

Spina bifida is a common cause of pediatric disability and more prevalent in the Hispanic population. Significant health disparities exist in minority populations. Culturally adapted health interventions have been attempted in conditions such as pediatric asthma with improvement. This study aims to explore the influence of ethnicity and culture with regards to functional status and care satisfaction. Study participants were recruited from the Children's Hospital Colorado Spinal Defects Clinic. Demographics and past medical and surgical history were obtained via chart review. A questionnaire assessed ethnicity, acculturation, self-care, mobility, bowel and bladder function, and care satisfaction. A total of 70 subjects with spina bifida were included in the statistical analysis. There was no difference in PEDI self-care and mobility scores between ethnicities. The Hispanic group had higher urinary incontinence rates, higher percentage with bladder accidents, and lower satisfaction with bladder management. Regarding bowel function, the Hispanic group had lower satisfaction rates and a trend towards lower bowel continence. Further work is needed to understand the social and cultural differences between Hispanic and Non-Hispanic children and their families that impact bowel and bladder continence and care satisfaction. Once identified, culturally sensitive interventions may be implemented that can alleviate these apparent health disparities.

Quality of life among children with spina bifida in Uganda.

PubMed

Sims-Williams, Helen J; Sims-Williams, Hugh P; Mbabazi Kabachelor, Edith; Warf, Benjamin C

2017-11-01

Children surviving after spina bifida repair often have significant disability, the consequences of which may be more profound in low-income countries. The aim of this cross-sectional study was to measure quality of life (QOL) reported by children with spina bifida in Uganda, and to define factors associated with QOL. QOL was measured using both the Health Utilities Index (HUI3) Tool and a visual analogue scale (VAS) marked from 0 to 10. In keeping with the WHO definition of QOL, further analysis was conducted using subjective QOL scores (using the VAS). Multivariate regression was used to investigate the association between VAS scores and prespecified variables: age, sex, hydrocephalus, mobility, urinary continence, school attendance and family size. Sixty two of 68 surviving children aged 10-14 were able to complete all aspects of the assessment. There was poor correlation between the VAS and HUI3 Tool (Pearson correlation 0.488). On multivariate regression, the following variables were associated with a significant change in the 10-point VAS (change in score; 95% CI): male sex (-1.45; -2.436 to -0.465), urinary continence (1.681; 0.190 to 3.172), large family size (-1.775; -2.773 to -0.777) and hydrocephalus (-1.382; -2.374 to -0.465). Urinary continence and family size are potentially modifiable, the former by simple and inexpensive medical management. Enhanced investment in community-based rehabilitation and support is urgently needed. Delivery of family planning services is a national priority in Uganda, and should be discussed with families as part of holistic care. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

Wheelchair Shuttle Test for Assessing Aerobic Fitness in Youth With Spina Bifida: Validity and Reliability

PubMed Central

de Groot, Janke F.; Backx, Frank J.G.; Benner, Joyce; Kruitwagen, Cas L.J.J.; Takken, Tim

2017-01-01

Abstract Background Testing aerobic fitness in youth is important because of expected relationships with health. Objective The purpose of the study was to estimate the validity and reliability of the Shuttle Ride Test in youth who have spina bifida and use a wheelchair for mobility and sport. Design Ths study is a validity and reliability study. Methods The Shuttle Ride Test, Graded Wheelchair Propulsion Test, and skill-related fitness tests were administered to 33 participants for the validity study (age = 14.5 ± 3.1 y) and to 28 participants for the reliability study (age = 14.7 ± 3.3 y). Results No significant differences were found between the Graded Wheelchair Propulsion Test and the Shuttle Ride Test for most cardiorespiratory responses. Correlations between the Graded Wheelchair Propulsion Test and the Shuttle Ride Test were moderate to high (r = .55–.97). The variance in peak oxygen uptake (VO2peak) could be predicted for 77% of the participants by height, number of shuttles completed, and weight, with large prediction intervals. High correlations were found between number of shuttles completed and skill-related fitness tests (CI = .73 to −.92). Intraclass correlation coefficients were high (.77–.98), with a smallest detectable change of 1.5 for number of shuttles completed and with coefficients of variation of 6.2% and 6.4% for absolute VO2peak and relative VO2peak, respectively. Conclusions When measuring VO2peak directly by using a mobile gas analysis system, the Shuttle Ride Test is highly valid for testing VO2peak in youth who have spina bifida and use a wheelchair for mobility and sport. The outcome measure of number of shuttles represents aerobic fitness and is also highly correlated with both anaerobic performance and agility. It is not possible to predict VO2peak accurately by using the number of shuttles completed. Moreover, the Shuttle Ride Test is highly reliable in youth with spina bifida, with a good smallest detectable change for the

[Long-term outcome of monotherapy by Cohen ureterocystoneostomy for vesicoureteral reflux in spina bifida patients].

PubMed

Momose, H; Torimoto, K; Kishino, T; Ono, T; Joko, M

2001-05-01

The conventional surgical treatment for vesioureteral reflux (VUR) is spina bifida patients is ureterocystoneostomy. Various newer therapies, including augmentation enterocystoplasty and minimally invasive subureteral collagen injection, have been introduced. However, all of these procedures have specific advantages and disadvantages, and no guidelines for deciding on the surgical treatment of VUR in spina bifida patients have yet been established. In this study, the long-term outcome of the Cohen procedure, a method of ureterocystoneostomy, was examined. Among spina bifida patients in whom VUR was treated by the Cohen procedure alone from 1984 to 1989, 27 patients who could be followed up for 5 years or longer were enrolled in the study (11 males and 16 females, with a mean age of 13.4 years at surgery). In principle, they were followed up using annual cystography, excretory urography, and blood and urine tests. At the final assessment, they were examined for the presence at VUR and for morphological abnormalities of the urinary tract. Their renal function was also assessed. They were followed for 6 to 13 years (mean: 8.9 years), and the mean age at final assessment was 22.2 years. Among 42 ureters in the 27 patients examined, 38 ureters (90.5%) in 22 patients (81.5%) did not have VUR postoperatively. Four ureters in 4 patients had the recurrence of VUR, and in another patient new occurrence was detected postoperatively. Augmentation ileocystoplasty was performed to treat the postoperative decrease of bladder compliance in 4 patients. Among 22 patients who had hydronephrosis preoperatively, 9 (40.9%) showed improvement and none suffered from aggravation of this condition. None of the patients showed a decline of renal function, except for 1 who had a serum creatinine of 2.5 mg/dl preoperatively and developed end-stage renal failure at 7 years postoperatively. The Cohen procedure has an excellent anti-reflux effect. It is one of the therapeutic options for VUR in

The use of self-modeling to improve the swimming performance of spina bifida children.

PubMed Central

Dowrick, P W; Dove, C

1980-01-01

The use of edited videotape replay (which showed only "positive" behaviors) to improve the water skills of three spina bifida children, aged 5 to 10 years was examined. A multiple baseline across subjects design was used, and behavioral changes were observed to occur in close association with intervention. One child was given successive reapplications of videotaped self-modeling with continuing improvements. It appears that a useful practical technique has been developed. PMID:6988381

A Novel Occulta-Type Spina Bifida Mediated by Murine Double Heterozygotes EphA2 and EphA4 Receptor Tyrosine Kinases.

PubMed

Abdullah, Nor Linda; Mohd-Zin, Siti W; Ahmad-Annuar, Azlina; Abdul-Aziz, Noraishah M

2017-01-01

Members of the Eph receptor tyrosine kinase have previously been implicated in cranial neural tube development. Failure of neural tube closure leads to the devastating conditions known as anencephaly and spina bifida. EphA2 and EphA4 are expressed at the tips of the closing spinal neural folds prior and during neural tube closure. We investigated the possible role of murine EphA2 and EphA4 during the last step of primary neural tube closure, which is adhesion and fusion. The individual mouse knockouts of EphA2 and EphA4 per se do not exhibit neural tube defects (NTDs). The embryos generated by the crossing of double heterozygotes Epha2 tm1Jrui/+ Epha4 rb-2J/+ displayed NTDs with a wide degree of severity including close exencephaly and close spina bifida (spina bifida occulta). Interestingly, mutants displaying NTDs had skin covering the underlying lesion. The tissue sections revealed the elevated neural folds had not adhered and fused. The phenotypes seen in Epha2 tm1Jrui/+ Epha4 rb-2J/+ double heterozygous embryos suggest both genes play a compensatory role with each other in the adhesion and fusion of the neural tube. In this study, there exists a >50% penetrance of NTDs in the mouse mutants, which genetically have a single allele each of EphA2 and EphA4 absent.

Establishing use of crutches by a mentally retarded spina bifida child1

PubMed Central

Horner, R. Don

1971-01-01

A 5-yr-old mentally retarded spina bifida child was taught to walk with the aid of crutches. This behavior was developed through fading of physical prompting within a 10-step successive approximation sequence. Preliminary training to establish gait consisted of developing use of parallel bars through fading of physically modelled responses within a six-step successive approximation sequence. Use of parallel bars ceased during an extinction period and completely recovered upon being primed with one “free” reinforcement. Systematic use of natural reinforcers was employed as an aid in maintaining use of crutches. PMID:16795294

Prospective memory in adults with spina bifida

PubMed Central

Dennis, Maureen; Nelson, Rebekah; Jewell, Derryn; Fletcher, Jack M.

2011-01-01

Introduction Individuals with neurodevelopmental disorders have been observed to show accelerated cognitive aging or even dementia as early as 30 and 40 years of age. Memory deficits are an important component of age-related cognitive loss. Methods In this study, we investigated prospective memory, which is often impaired in aging, in a group of 32 adults with spina bifida meningomyelocele (SBM), including members of the oldest living cohort successfully treated with shunts to divert excess cerebrospinal fluid, ventriculomegaly, and hydrocephalus, who are now around 50 years of age. Seventeen typically developing adults provided a comparison group. Results The SBM and comparison groups differed in the prospective memory total score as well as in both time-based and event-based subscores. Prospective memory was impaired in both older and younger individuals with SBM. However, the percentage of individuals with impaired or poor prospective memory was three times higher in the older SBM group than in the younger SBM group. The results are considered in relation to specific features of the complex brain reorganization in SBM. PMID:20393850

Auditory agnosia due to long-term severe hydrocephalus caused by spina bifida - specific auditory pathway versus nonspecific auditory pathway.

PubMed

Zhang, Qing; Kaga, Kimitaka; Hayashi, Akimasa

2011-07-01

A 27-year-old female showed auditory agnosia after long-term severe hydrocephalus due to congenital spina bifida. After years of hydrocephalus, she gradually suffered from hearing loss in her right ear at 19 years of age, followed by her left ear. During the time when she retained some ability to hear, she experienced severe difficulty in distinguishing verbal, environmental, and musical instrumental sounds. However, her auditory brainstem response and distortion product otoacoustic emissions were largely intact in the left ear. Her bilateral auditory cortices were preserved, as shown by neuroimaging, whereas her auditory radiations were severely damaged owing to progressive hydrocephalus. Although she had a complete bilateral hearing loss, she felt great pleasure when exposed to music. After years of self-training to read lips, she regained fluent ability to communicate. Clinical manifestations of this patient indicate that auditory agnosia can occur after long-term hydrocephalus due to spina bifida; the secondary auditory pathway may play a role in both auditory perception and hearing rehabilitation.

A Novel Occulta-Type Spina Bifida Mediated by Murine Double Heterozygotes EphA2 and EphA4 Receptor Tyrosine Kinases

PubMed Central

Abdullah, Nor Linda; Mohd-Zin, Siti W.; Ahmad-Annuar, Azlina; Abdul-Aziz, Noraishah M.

2017-01-01

Members of the Eph receptor tyrosine kinase have previously been implicated in cranial neural tube development. Failure of neural tube closure leads to the devastating conditions known as anencephaly and spina bifida. EphA2 and EphA4 are expressed at the tips of the closing spinal neural folds prior and during neural tube closure. We investigated the possible role of murine EphA2 and EphA4 during the last step of primary neural tube closure, which is adhesion and fusion. The individual mouse knockouts of EphA2 and EphA4 per se do not exhibit neural tube defects (NTDs). The embryos generated by the crossing of double heterozygotes Epha2tm1Jrui/+Epha4rb-2J/+ displayed NTDs with a wide degree of severity including close exencephaly and close spina bifida (spina bifida occulta). Interestingly, mutants displaying NTDs had skin covering the underlying lesion. The tissue sections revealed the elevated neural folds had not adhered and fused. The phenotypes seen in Epha2tm1Jrui/+Epha4rb-2J/+ double heterozygous embryos suggest both genes play a compensatory role with each other in the adhesion and fusion of the neural tube. In this study, there exists a >50% penetrance of NTDs in the mouse mutants, which genetically have a single allele each of EphA2 and EphA4 absent. PMID:29312933

Prenatal diagnosis of parapagus diprosopus dibrachius dipus twins with spina bifida in the first trimester using two- and three-dimensional ultrasound.

PubMed

Yang, Pei-Yin; Wu, Ching-Hua; Yeh, Guang-Perng; Hsieh, Charles Tsung-Che

2015-12-01

Here, we report a case of parapagus diprosopus twins with spina bifida diagnosed in the first trimester of pregnancy using two-dimensional (2D) and three-dimensional (3D) ultrasound. A 28-year-old Taiwanese woman, gravid 1, para 0, visited our hospital due to an abnormal fetal head shape discovered by 2D ultrasound at 11-weeks gestation. Parapagus diprosopus twins with spina bifida were diagnosed after ultrasound examination. The characteristics of parapagus diprosopus twins are more illustrative in 3D ultrasound than in 2D ultrasound. After counseling, termination of pregnancy was chosen by the couple. Although necropsy was declined, the gross appearance and radiograph of the abortus confirmed our diagnosis. With the help of 3D ultrasound, we made an early and definitive diagnosis of conjoined twins. Copyright © 2015. Published by Elsevier B.V.

Executive functions in adolescents with spina bifida: relations with autonomy development and parental intrusiveness.

PubMed

Tuminello, Elizabeth R; Holmbeck, Grayson N; Olson, Rick

2012-01-01

The current study was part of a larger longitudinal investigation and examined the relation of parent-report and performance measures of executive functioning (EF) with measures of behavioral and emotional autonomy and parental intrusiveness in adolescents with and without spina bifida (SB; n=65 in a comparison sample and 61 in an SB sample; M age=14.55, SD=0.63). For both groups, higher levels of parent-reported EF problems predicted higher levels of observed child dependency and lower levels of teacher-reported intrinsic motivation. Higher scores on performance EF measures predicted lower levels of observed child dependency and observed maternal intrusiveness for both groups. In adolescents with SB only, higher performance EF scores predicted higher intrinsic motivation and emotional autonomy from both mother and father and predicted lower levels of observed paternal intrusiveness. While causal conclusions cannot be drawn, EFs appear to be closely related to autonomy development and parental intrusiveness, particularly for adolescents with SB. These results suggest that the inclusion of EF training in interventions targeting adolescents with SB may be beneficial for autonomy development.

Prenatal diagnosis and genetic counseling in a case of spina bifida in a family with Waardenburg syndrome type I.

PubMed

Kujat, Annegret; Veith, Veit-Peter; Faber, Renaldo; Froster, Ursula G

2007-01-01

Waardenburg syndrome type I (WS I) is an autosomal dominant inherited disorder with an incidence of 1:45,000 in Europe. Mutations within the PAX3 gene are responsible for the clinical phenotype ranging from mild facial features to severe malformations detectable in prenatal diagnosis. Here, we report a four-generation family with several affected members showing various symptoms of WS I. We diagnosed the syndrome first in a pregnant young woman; she was referred because of a spina bifida in prenatal diagnosis. We performed clinical genetic investigations and molecular genetic analysis in all available family members. The phenotype displays a wide intra-familial clinical variability of pigmentary disturbances, facial anomalies and developmental defects. Molecular studies identified a novel splice site mutation within the PAX3 gene in intron 5 in all affected family members, but in none of the unaffected relatives. This case demonstrates the prenatal diagnosis of spina bifida in a fetus which leads to the initial diagnosis of WS I. Further studies could identify a private splice site mutation within the PAX3 gene responsible for the phenotype in this family.

Reading and writing skills in young adults with spina bifida and hydrocephalus.

PubMed

Barnes, Marcia; Dennis, Maureen; Hetherington, Ross

2004-09-01

Reading and writing were studied in 31 young adults with spina bifida and hydrocephalus (SBH). Like children with this condition, young adults with SBH had better word decoding than reading comprehension, and, compared to population means, had lower scores on a test of writing fluency. Reading comprehension was predicted by word decoding and listening comprehension. Writing was predicted by fine motor finger function, verbal intelligence, and short-term and working memory. These findings are consistent with cognitive models of reading and writing. Writing, but not reading, was related to highest level of education achieved and writing fluency predicted several aspects of functional independence. Reading comprehension and writing remain deficient in adults with SBH and have consequences for educational attainments and functional independence.

Lack of significant association between spina bifida and the fragile X syndrome

DOE Office of Scientific and Technical Information (OSTI.GOV)

Schiano, C.M.; Demb, H.B.; Brown, W.T.

1995-12-04

Folic acid is involved in two common disorders associated with developmental disabilities. Spina bifida is a malformation that may be associated with mental retardation, learning disabilities, and epilepsy. Its incidence can be reduced by the ingestion of folic acid before, and at the time of, conception. The fragile X syndrome is a genetic disorder which is the most common form of inherited mental retardation. This disorder can be diagnosed by the induction of fragile sites on the X chromosome which is cultured in a medium deficient in folic acid. In several studies, folic acid was reported to alleviate some ofmore » the developmental and behavioral manifestations associated in the fragile X syndrome, while in others, it has no effect. 9 refs.« less

Condition Self-Management in Pediatric Spina Bifida: A Longitudinal Investigation of Medical Adherence, Responsibility-Sharing, and Independence Skills.

PubMed

Psihogios, Alexandra M; Kolbuck, Victoria; Holmbeck, Grayson N

2015-09-01

This study aimed to evaluate rates of medical adherence, responsibility, and independence skills across late childhood and adolescence in youth with spina bifida (SB) and to explore associations among these disease self-management variables. 111 youth with SB, their parents, and a health professional participated at two time points. Informants completed questionnaires regarding medical adherence, responsibility-sharing, and child independence skills. Youth gained more responsibility and independence skills across time, although adherence rates did not follow a similar trajectory. Increased child medical responsibility was related to poorer adherence, and father-reported independence skills were associated with increased child responsibility. This study highlights medical domains that are the most difficult for families to manage (e.g., skin checks). Although youth appear to gain more autonomy across time, ongoing parental involvement in medical care may be necessary to achieve optimal adherence across adolescence. © The Author 2015. Published by Oxford University Press on behalf of the Society of Pediatric Psychology. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

Outcomes of Clinicians, Caregivers, Family Members and Adults with Spina Bifida Regarding Receptivity to use of the iMHere mHealth Solution to Promote Wellness

PubMed Central

Fairman, Andrea D.; Dicianno, Brad E.; Datt, Nicole; Garver, Amanda; Parmanto, Bambang; McCue, Michael

2013-01-01

The purpose of this study was to gather information regarding the receptivity of clinicians, caregivers and family members, and adults with spina bifida (SB) to the use of a mHealth application, iMobile Health and Rehabilitation (iMHere) system. Surveys were administered to end user groups in conjunction with a conference presentation at the Spina Bifida Association’s 38th Annual Conference. The survey results were obtained from a total of 107 respondents. Likert scale and qualitative results are provided in consideration of future application of the iMHere system in clinical practice. The results of this survey indicate respondents were receptive and supportive with regard to adopting such a system for personal and professional use. Challenges likely to be encountered in the introduction of the iMHere system are also revealed and discussed. PMID:25945209

Learning Among Children with Spina Bifida

MedlinePlus

SBA National Resource Center: 800-621-3141 Learning Among Children with Spina Bifida Overview Parents, teachers and health care professionals have observed that children with Spina Bilda have problems with motor ...

Inter-Tester Reliability and Precision of Manual Muscle Testing and Hand-Held Dynamometry in Lower Limb Muscles of Children with Spina Bifida

ERIC Educational Resources Information Center

Mahony, Kate; Hunt, Adrienne; Daley, Deborah; Sims, Susan; Adams, Roger

2009-01-01

Reliability and measurement precision of manual muscle testing (MMT) and hand-held dynamometry (HHD) were compared for children with spina bifida. Strength measures were obtained of the hip flexors, hip abductors, and knee extensors of 20 children (10 males, 10 females; mean age 9 years 10 months; range: 5 to 15 years) by two experienced physical…

Family satisfaction, pain, and quality-of-life in emerging adults with spina bifida: a longitudinal analysis.

PubMed

Bellin, Melissa H; Dicianno, Brad E; Osteen, Philip; Dosa, Nienke; Aparicio, Elizabeth; Braun, Patricia; Zabel, T Andrew

2013-08-01

This study uses the Life Course Model for Spina Bifida (SB) to advance knowledge of factors associated with change in quality-of-life (QOL) among emerging adults with SB. Forty-eight participants (mean [SD], 22.04 [2.16] yrs) completed self-report questionnaires at two time points, 15 mos apart. Four QOL domains (physical health, psychological, social relationships, and environment) were measured using the World Health Organization QOL-BREF version. SB clinical data were collected via chart reviews. Paired t tests and reliable change indices evaluated group- and individual-level QOL change, respectively. Multiple regression analyses tested the contributions of the Life Course variables in explaining change in QOL over time. No significant group-level differences in the QOL domains were found between time 1 and time 2, but there was substantial individual variation in QOL over time. SB severity was related to a decline only in psychological QOL (B = -0.68, P = 0.02). Increased pain was associated with reduced physical health (B = -0.29, P = 0.049) and psychological (B = -0.29, P = 0.03) QOL at time 2, whereas greater family satisfaction was related to improved QOL in several domains. Clinicians should be aware of the negative impact of pain and the protective influence of family satisfaction on QOL in emerging adults with SB.

The development and evaluation of content validity of the Zambia Spina Bifida Functional Measure: Preliminary studies

PubMed Central

Amosun, Seyi L.; Shilalukey-Ngoma, Mary P.; Kafaar, Zuhayr

2017-01-01

Background Very little is known on outcome measures for children with spina bifida (SB) in Zambia. If rehabilitation professionals managing children with SB in Zambia and other parts of sub-Saharan Africa are to instigate measuring outcomes routinely, a tool has to be made available. The main objective of this study was to develop an appropriate and culturally sensitive instrument for evaluating the impact of the interventions on children with SB in Zambia. Methods A mixed design method was used for the study. Domains were identified retrospectively and confirmation was done through a systematic review study. Items were generated through semi-structured interviews and focus group discussions. Qualitative data were downloaded, translated into English, transcribed verbatim and presented. These were then placed into categories of the main domains of care deductively through the process of manifest content analysis. Descriptive statistics, alpha coefficient and index of content validity were calculated using SPSS. Results Self-care, mobility and social function were identified as main domains, while participation and communication were sub-domains. A total of 100 statements were generated and 78 items were selected deductively. An alpha coefficient of 0.98 was computed and experts judged the items. Conclusions The new functional measure with an acceptable level of content validity titled Zambia Spina Bifida Functional Measure (ZSBFM) was developed. It was designed to evaluate effectiveness of interventions given to children with SB from the age of 6 months to 5 years. Psychometric properties of reliability and construct validity were tested and are reported in another study. PMID:28951850

Daily time management in children with spina bifida.

PubMed

Persson, Marika; Janeslätt, Gunnel; Peny-Dahlstrand, Marie

2017-12-11

Spina bifida (SB) often results in a complex disability and can also cause cognitive dysfunction. No previous study has investigated the ability to adapt to time in children with SB. This ability is crucial for an individual's possibility to develop autonomy in life. The purpose of this study was to investigate whether children aged 10-17 with SB have lower time-processing abilities than typically-developing children, and to describe the profile of time-processing in children with SB. Participants comprised a consecutive sample of 21 children (drawn from a geographical cohort of 45) aged 10-17 years (mean: 14 years, SD: 2 years); 13 were boys. The instruments used were KaTid-Y, Time-S, and Time-P. The children with SB had lower time-processing abilities than typically-developing children (52.4% under -2SD), particularly difficulties to orient to and to estimate objective time, to understand time perspectives and with time planning. They also self-rated low use of strategies to adapt to time. The parents rated their children as having extensive difficulties in daily time management. The low time-processing ability found in children with SB is likely to be an important contributing factor to low autonomy and independence.

Motor Contingency Learning and Infants with Spina Bifida

PubMed Central

Taylor, Heather B.; Barnes, Marcia A.; Landry, Susan H.; Swank, Paul; Fletcher, Jack M.; Huang, Furong

2014-01-01

Infants with Spina Bifida (SB) were compared to typically developing infants (TD) using a conjugate reinforcement paradigm at 6 months-of-age (n = 98) to evaluate learning, and retention of a sensory-motor contingency. Analyses evaluated infant arm-waving rates at baseline (wrist not tethered to mobile), during acquisition of the sensory-motor contingency (wrist tethered), and immediately after the acquisition phase and then after a delay (wrist not tethered), controlling for arm reaching ability, gestational age, and socioeconomic status. Although both groups responded to the contingency with increased arm-waving from baseline to acquisition, 15% to 29% fewer infants with SB than TD were found to learn the contingency depending on the criterion used to determine contingency learning. In addition, infants with SB who had learned the contingency had more difficulty retaining the contingency over time when sensory feedback was absent. The findings suggest that infants with SB do not learn motor contingencies as easily or at the same rate as TD infants, and are more likely to decrease motor responses when sensory feedback is absent. Results are discussed with reference to research on contingency learning in infants with and without neurodevelopmental disorders, and with reference to motor learning in school-age children with SB. PMID:23298791

Motor contingency learning and infants with Spina Bifida.

PubMed

Taylor, Heather B; Barnes, Marcia A; Landry, Susan H; Swank, Paul; Fletcher, Jack M; Huang, Furong

2013-02-01

Infants with Spina Bifida (SB) were compared to typically developing infants (TD) using a conjugate reinforcement paradigm at 6 months-of-age (n = 98) to evaluate learning, and retention of a sensory-motor contingency. Analyses evaluated infant arm-waving rates at baseline (wrist not tethered to mobile), during acquisition of the sensory-motor contingency (wrist tethered), and immediately after the acquisition phase and then after a delay (wrist not tethered), controlling for arm reaching ability, gestational age, and socioeconomic status. Although both groups responded to the contingency with increased arm-waving from baseline to acquisition, 15% to 29% fewer infants with SB than TD were found to learn the contingency depending on the criterion used to determine contingency learning. In addition, infants with SB who had learned the contingency had more difficulty retaining the contingency over time when sensory feedback was absent. The findings suggest that infants with SB do not learn motor contingencies as easily or at the same rate as TD infants, and are more likely to decrease motor responses when sensory feedback is absent. Results are discussed with reference to research on contingency learning in infants with and without neurodevelopmental disorders, and with reference to motor learning in school-age children with SB.

A two-view ultrasound CAD system for spina bifida detection using Zernike features

NASA Astrophysics Data System (ADS)

Konur, Umut; Gürgen, Fikret; Varol, Füsun

2011-03-01

In this work, we address a very specific CAD (Computer Aided Detection/Diagnosis) problem and try to detect one of the relatively common birth defects - spina bifida, in the prenatal period. To do this, fetal ultrasound images are used as the input imaging modality, which is the most convenient so far. Our approach is to decide using two particular types of views of the fetal neural tube. Transcerebellar head (i.e. brain) and transverse (axial) spine images are processed to extract features which are then used to classify healthy (normal), suspicious (probably defective) and non-decidable cases. Decisions raised by two independent classifiers may be individually treated, or if desired and data related to both modalities are available, those decisions can be combined to keep matters more secure. Even more security can be attained by using more than two modalities and base the final decision on all those potential classifiers. Our current system relies on feature extraction from images for cases (for particular patients). The first step is image preprocessing and segmentation to get rid of useless image pixels and represent the input in a more compact domain, which is hopefully more representative for good classification performance. Next, a particular type of feature extraction, which uses Zernike moments computed on either B/W or gray-scale image segments, is performed. The aim here is to obtain values for indicative markers that signal the presence of spina bifida. Markers differ depending on the image modality being used. Either shape or texture information captured by moments may propose useful features. Finally, SVM is used to train classifiers to be used as decision makers. Our experimental results show that a promising CAD system can be actualized for the specific purpose. On the other hand, the performance of such a system would highly depend on the qualities of image preprocessing, segmentation, feature extraction and comprehensiveness of image data.

[Prevalence of Gastroschisis, Omphalocele, Spina Bifida and Orofacial Clefts of Neonates from January 2000 to December 2010 in Leipzig, Saxony, Saxony-Anhalt and Germany].

PubMed

Bremer, S; Kiess, W; Thome, U; Knüpfer, M; Bühligen, U; Vogel, M; Friedrich, A; Janisch, U; Rißmann, A

2018-02-01

Malformations are the most common cause of death in infancy. Numerous studies indicate an increased prevalence of malformations in neonates in recent years in some countries around the world. This study analyzed local and national trends of the prevalences of gastroschisis, omphalocele, spina bifida and orofacial clefts during 2000 till 2010 in Leipzig, Saxony, Saxony-Anhalt and Germany. The prevalence of neonatal malformations was studied retrospectively from January 2000 till December 2010 using 4 sources from Leipzig, Saxony, Saxony-Anhalt and Germany. Between 2000 and 2010, the prevalence in Germany and in Saxony, respectively was 1.97/2.12 (gastroschisis), 1.63/1.48 (omphalocele), 5.80/8.11 (orofacial clefts) and 2.92/2.50 (spina bifida) of 10 000 live births. In Saxony, a small increase in prevalence was detected (OR/year: 1.01-1.09). In Germany, the prevalence of malformations also increased significantly (OR/year: 1.01-1.04) with the exception of the prevalence of spina bifida which seemed to decline (OR/year 0.986 (0.97-1.0), p-adjust=0.04). Whether or not there has been an actual increase in the prevalence of neonatal malformations in Germany over the years or the apparent increase is just due to bias, coding errors, multiple reporting and/or false registration and codification remains unclear. Importantly, in Germany, since prevalence of malformations is monitored prospectively only in Saxony-Anhalt and Rhineland-Palatinate, only in these states is it possible to recognize recent changes. For early identification of changes in prevalence and timely implementation of preventive measures, a nationwide register or additional regional registers are deemed necessary. © Georg Thieme Verlag KG Stuttgart · New York.

Genetics and Spina Bifida

MedlinePlus

... that some babies will have it even when women take the right amount every day. Who is at risk for having a baby with Spina Bilda? Any woman who is capable of becoming ... 65 million women of childbearing age in the United States. Although ...

Work participation among middle-aged persons with cerebral palsy or spina bifida--a longitudinal study.

PubMed

Törnbom, Marie; Jonsson, Ulrica; Sunnerhagen, Katharina S

2014-04-01

Most studies of work participation among persons with cerebral palsy (CP) or spina bifida (SB) have focused on young adults, little is known about older adults. The aim of this study was to compare work participation in 2009 with 1997 (98). Two groups of persons with CP or SB in Gothenburg, Sweden with an IQ above 70 were interviewed using a structured questionnaire regarding work participation. Group (A) was studied in 1983 (n = 55), in 1997 (n = 42) and in 2009 (n = 28). Group (B) was studied in 1998 (n = 30) and in 2009 (n = 25). In this study, the persons interviewed in 2009 were compared with their own data from 1997 (8), with a non-parametric test. Work participation had significantly decreased (p < 0.004) since 1997 (8); more persons worked part time or had stopped working. Thirty-eight percent had continued their education during 1997 (8)-2009, most of them worked. Of 34 persons working in 2009, 56% had wage subsidies, an increase from 42% in 1997 (8). Of the persons who worked and had continued their education, 37.5% had wage subsidies while, among persons without continued education, 72% had this support. Transportation to work functioned but not as well as in 1997 (8). More persons used transportation for people with a disability in 2009 than in 1997 (8) and criticism was expressed about the transportation system. Results showed that work participation for middle-aged persons with CP or SB without intellectual disability decreased with age but continued education and wage subsidies facilitated work participation. Copyright © 2014 Elsevier Inc. All rights reserved.

Osteoporosis in paediatric patients with spina bifida.

PubMed

Marreiros, Humberto; Marreiros, Humberto Filipe; Loff, Clara; Calado, Eulalia

2012-01-01

The prevalence and morbidity associated with osteoporosis and fractures in patients with spina bifida (SB) highlight the importance of osteoporosis prevention and treatment in early childhood; however, the issue has received little attention. The method for the selection of appropriate patients for drug treatment has not been clarified. To review the literature concerning fracture risks and low bone density in paediatric patients with SB. We looked for studies describing state-of-the-art treatments and for prevention of secondary osteoporosis. Articles were identified through a search in the electronic database (PUBMED) supplemented with reviews of the reference lists of selected papers. The main outcome measures were incidence of fractures and risk factors for fracture, an association between bone mineral density (BMD) and occurrence of fracture, risk factors of low BMD, and effects of pharmacological and non-pharmacological treatments on BMD and on the incidence of fractures. We considered as a secondary outcome the occurrence of fractures in relation to the mechanism of injury. Results indicated that patients with SB are at increased risk for fractures and low BMD. Risk factors that may predispose patients to fractures include higher levels of neurological involvement, non-ambulatory status, physical inactivity, hypercalciuria, higher body fat levels, contractures, and a previous spontaneous fracture. Limitations were observed in the number and quality of studies concerning osteoporosis prevention and treatment in paediatric patients with SB. The safety and efficiency of drugs to treat osteoporosis in adults have not been evaluated satisfactorily in children with SB.

Can Naturoptics fund Naturopathic Universities to Develop Interlocked Mentoring Relationships with Proposed Universities to Check Sensitivities of Individuals with Spina Bifida, to Environmentally Generated EMF Information about 'Quakes, Hurricanes, etc.?

NASA Astrophysics Data System (ADS)

McLeod, David M.; Ataide, Italani; McLeod, Roger D.

2006-03-01

Individuals harboring the herpes zoster virus following chicken pox, are susceptible to attacks of shingles. They may indicate peculiar awareness of pricking `pin and needle' sensations and co-symptoms of tinnitus and/or Meuniere's syndrome. RDM used similar symptoms in FL to predict the earthquake ninety miles north of Guantanamo bay in 1998. An astounding burial site in Florida from over six thousand years ago had a teenaged boy with severe spina bifida, with non-Asian genes, who could not have survived without very capable health support. Two youthful individuals likewise afflicted with spina bifida were unearthed from one site at Pompeii, entombed by the eruption of Vesuvius, August 24 and 25, CE 79. We know how to locate sites, active with EMF, which have tornado, hurricane and earthquake associations, and would like to foster joint research also involving Hawaiian and other volcanoes.

Validation of QUALAS-T, a health-related quality of life instrument for teenagers with spina bifida

PubMed Central

Misseri, Rosalia; Whittam, Benjamin; Casey, Jessica T.; Yang, David Y.; Raposo, Sonia-Maria; King, Shelly J.; Kaefer, Martin; Rink, Richard C.; Cain, Mark P.

2017-01-01

Introduction We aimed to develop and validate a self-reported QUAlity of Life Assessment in Spina bifida for Teenagers (QUALAS-T). Material and methods We drafted a 46-question pilot instrument using a patient-centered comprehensive item generation/refinement process. A group of 13–17 years olds with spina bifida (SB) was recruited online via social media and in person at SB clinics (2013–2015). Healthy controls were recruited during routine pediatrician visits. Final questions were identified based on clinical relevance, factor analysis and domain psychometrics. Teenagers with SB completed the validated generic Kidscreen-27 instrument. Results Median age of 159 participants was 15.2 years (42.0% male, 77.4% Caucasian), similar to 58 controls (p ≥ 0.06). There were 102 online and 57 clinic participants (82.8% of eligible). Patients, parents and an expert panel established face and content validity of the 2-domain, 10-question QUALAS-T. Internal consistency and test-retest reliability were high for the Family and Independence and Bladder and Bowel domains (Cronbach's alpha: 0.76–0.78, ICC: 0.72–0.75). The Bladder and Bowel domain is the same for QUALAS-T , QUALAS-A for adults and QUALAS-C for children. Correlations between QUALAS-T domains were low (r = 0.34), indicating QUALAS-T can differentiate between distinct HRQOL components. Correlations between QUALAS-T and Kidscreen-27 were also low (r ≤0.41). QUALAS-T scores were lower in teenagers with SB than without (p <0.0001). Conclusions QUALAS-T is a short, valid HRQOL tool for adolescents with SB, applicable in clinical and research settings. Since the Bladder & Bowel domains for all QUALAS versions are the same, Bladder and Bowel HRQOL can be measured on the same scale from age 8 through adulthood. PMID:29104796

Mathematical skills in 3- and 5-year-olds with spina bifida and their typically developing peers: a longitudinal approach.

PubMed

Barnes, Marcia A; Stubbs, Allison; Raghubar, Kimberly P; Agostino, Alba; Taylor, Heather; Landry, Susan; Fletcher, Jack M; Smith-Chant, Brenda

2011-05-01

Preschoolers with spina bifida (SB) were compared to typically developing (TD) children on tasks tapping mathematical knowledge at 36 months (n = 102) and 60 months of age (n = 98). The group with SB had difficulty compared to TD peers on all mathematical tasks except for transformation on quantities in the subitizable range. At 36 months, vocabulary knowledge, visual-spatial, and fine motor abilities predicted achievement on a measure of informal math knowledge in both groups. At 60 months of age, phonological awareness, visual-spatial ability, and fine motor skill were uniquely and differentially related to counting knowledge, oral counting, object-based arithmetic skills, and quantitative concepts. Importantly, the patterns of association between these predictors and mathematical performance were similar across the groups. A novel finding is that fine motor skill uniquely predicted object-based arithmetic abilities in both groups, suggesting developmental continuity in the neurocognitive correlates of early object-based and later symbolic arithmetic problem solving. Models combining 36-month mathematical ability and these language-based, visual-spatial, and fine motor abilities at 60 months accounted for considerable variance on 60-month informal mathematical outcomes. Results are discussed with reference to models of mathematical development and early identification of risk in preschoolers with neurodevelopmental disorder.

Mathematical Skills in 3- and 5-Year-Olds with Spina Bifida and Their Typically Developing Peers: A Longitudinal Approach

PubMed Central

Barnes, Marcia A.; Stubbs, Allison; Raghubar, Kimberly P.; Agostino, Alba; Taylor, Heather; Landry, Susan; Fletcher, Jack M.; Smith-Chant, Brenda

2011-01-01

Preschoolers with spina bifida (SB) were compared to typically developing (TD) children on tasks tapping mathematical knowledge at 36 months (n = 102) and 60 months of age (n = 98). The group with SB had difficulty compared to TD peers on all mathematical tasks except for transformation on quantities in the subitizable range. At 36 months, vocabulary knowledge, visual–spatial, and fine motor abilities predicted achievement on a measure of informal math knowledge in both groups. At 60 months of age, phonological awareness, visual–spatial ability, and fine motor skill were uniquely and differentially related to counting knowledge, oral counting, object-based arithmetic skills, and quantitative concepts. Importantly, the patterns of association between these predictors and mathematical performance were similar across the groups. A novel finding is that fine motor skill uniquely predicted object-based arithmetic abilities in both groups, suggesting developmental continuity in the neurocognitive correlates of early object-based and later symbolic arithmetic problem solving. Models combining 36-month mathematical ability and these language-based, visual–spatial, and fine motor abilities at 60 months accounted for considerable variance on 60-month informal mathematical outcomes. Results are discussed with reference to models of mathematical development and early identification of risk in preschoolers with neurodevelopmental disorder. PMID:21418718

Men's Health and Spina Bifida

MedlinePlus

SBA National Resource Center: 800-621-3141 Men’s Health Urologic and Sexual Function Why is bladder control important for sexual activity? Ninety to ninety-lve percent of people with Spina Bilda ( ...

Adolescents with spina bifida. How they see their situation.

PubMed Central

Dorner, S

1976-01-01

Forty-six adolescents with spina bifida were interviewed at home to find out how they felt about their situation. Some degree of misery was very common indeed but was more likely to be severe in girls than in boys. About half the girls had, on some occasion in the past year, felt that life was hopeless or not worth living. Since these feelings are related to their social isolation outside school, they might be alleviated by improved opportunities for contract with peers. This seems particularly important in view of the capacity of most teenagers to make reasonable relationships where the opportunity exists, e.g. at school or within the family. Over half those who had left school were either unemployed or very dissatisfied with their job. In addition to worries about work, preoccupations about sexual relatinships, sexual function, and marriage were common. About two-thirds of the teenagers hoped to get married and half of these thought they could have children. Girls were particularly worried about their capacity to conceive and boys had understandable concerns about potency. Very few had consulted anyone about this or had had advice about the genetic aspects of the condition and there is a clear need for adequate counseling to help such teenagers to distinguish between real and imagined fears about the consequences of their condition. PMID:782378

Testing the Utility of a Bio-Neuropsychosocial Model for Predicting Medical Adherence and Responsibility During Early Adolescence in Youth With Spina Bifida.

PubMed

Psihogios, Alexandra M; Murray, Caitlin; Zebracki, Kathy; Acevedo, Laura; Holmbeck, Grayson N

2017-10-01

The present longitudinal, multi-method, and multi-informant study examined biological, neuropsychological, and social predictors of medical adherence and responsibility among early adolescents with spina bifida (SB). Youth with SB (M age = 11.40 at Time 1) and their parents and teachers completed surveys, and families and peers completed observational assessments, at two biennial data collection time points (n = 112 for both time points). Multinomial logistic regressions tested predictors of group membership (adherent vs. nonadherent and child responsible vs. not responsible with SB medical tasks). Consistent with the bio-neuropsychosocial model, several risk factors emerged for SB management. Impaired gross motor classification and low IQ were barriers to obtaining medical responsibility, and high family stress and executive dysfunction were barriers to adherence and responsibility. This study offered intervention targets to promote self-management and adherence for youth with SB and their families, including parent stress-management and family problem-solving. © The Author 2016. Published by Oxford University Press on behalf of the Society of Pediatric Psychology. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com

Sonographic detection of open spina bifida in the first trimester: review of the literature.

PubMed

Meller, César; Aiello, Horacio; Otaño, Lucas

2017-07-01

In the beginnings, sonographic diagnosis of open spina bifida (OSB) relied on the meticulous scanning of the fetal vertebrae for abnormalities but many defects were missed. After the mid-1980s, however, with the description of the intracranial findings in the second trimester (the "lemon sign" and the "banana sign"), the prenatal diagnosis of OSB was enhanced. In the last 2 decades, there has been widespread uptake of routine ultrasound examination in the first trimester of pregnancy with the purpose of the measurement of fetal crown-rump length to determine gestational age, to screen for trisomy 21 and other aneuploidies, mainly with the nuchal translucency, and for diagnosis of many major abnormalities. Many papers were published focusing on early diagnosis of myelomeningocele (MMC), and the objective of this review is to summarize the different techniques described regarding prenatal diagnosis of OSB in the first trimester of pregnancy.

Prospective and Episodic Memory in Relation to Hippocampal Volume in Adults with Spina Bifida Myelomeningocele

PubMed Central

Treble-Barna, Amery; Juranek, Jenifer; Stuebing, Karla K.; Cirino, Paul T.; Dennis, Maureen; Fletcher, Jack M.

2014-01-01

The present study examined prospective and episodic memory in relation to age, functional independence, and hippocampal volume in younger to middle-aged adults with spina bifida myelomeningocele (SBM) and typically developing (TD) adults. Prospective and episodic memory, as well as hippocampal volume, were reduced in adults with SBM relative to TD adults. Neither memory performance nor hippocampal volume showed greater decrements in older adults. Lower hippocampal volume was associated with reduced prospective memory in adults with SBM, and this relation was specific to the hippocampus and not to a contrast structure, the amygdala. Prospective memory mediated the relation between hippocampal volume and functional independence in adults with SBM. The results add to emerging evidence for reduced memory function in adults with SBM, and provide quantitative evidence for compromised hippocampal macrostructure as a neural correlate of reduced memory in this population. PMID:25068670

Serial casting versus stretching technique to treat knee flexion contracture in children with spina bifida: a comparative study.

PubMed

Al-Oraibi, S; Tariah, Hashem Abu; Alanazi, Abdullah

2013-01-01

Severe knee contractures that develop soon after muscle imbalance may not improve with stretching exercises and splinting. An alternative treatment is serial casting, which has been used to promote increased range of motion. The purpose of this study was to compare the effectiveness of using serial casting and passive stretching approaches to treat knee flexion contracture in children with spina bifida. In a pre/post randomized controlled study, ten participants were included in the serial casting group, while eight participants were included in the passive stretching intervention group. The degree of knee extension was measured at baseline, immediately after intervention, and at a one-year follow-up using a standard goniometer. Both groups showed significant improvements in the degree of flexion contracture at the post-treatment evaluation and the follow-up evaluation. The serial casting group showed significant improvements in knee flexion contracture at the post-treatment evaluation, t (9)=13.4, p < 0.001, and the one-year follow-up evaluation, t (9) = 7.46, p < 0.001. The passive stretching group also showed significant improvements in knee flexion contracture at the post-treatment evaluation, t (7) =2.6, p < 0.05, and the one-year follow-up evaluation, t (7) = 3.6, p < 0.05. However, statistically significant improvements in the serial casting group compared with passive stretching group in relation to the degree of flexion contracture were found at the immediate post-treatment evaluation, F(1, 15)=246, p=0.0001, and the one-year follow-up evaluation, F (1, 15)=51.5, p=0.0001. The outcomes of this study provide the first evidence that serial casting may be a useful intervention in treating knee flexion contracture in children with spina bifida. However, further investigations into serial casting, as well as investigations into the use of serial casting with other interventions, are warranted.

Complications of Delivery Among Mothers with Spina Bifida.

PubMed

Shepard, Courtney L; Yan, Phyllis L; Kielb, Stephanie J; Wittmann, Daniela A; Quint, Elisabeth H; Kraft, Kate H; Hollingsworth, John M

2018-06-13

To determine rates and types of peripartum morbidity among delivering women with spina bifida (SB) compared to those without SB. The rates of pregnancy and delivery among women with SB have been significantly increasing. Current knowledge of peripartum outcomes for these women is limited. Using 2004-2013 National Inpatient Sample data, we identified all hospitalizations for delivery, distinguishing between women with and without SB. Using a code-based algorithm, we determined whether a complication occurred during the hospitalization. We then fit a series of multivariable logistic models to examine for associations between a complication occurrence during vaginal or cesarean delivery and a woman's SB status. We identified 38,319,814 weighted admissions for delivery, 9,516 of which were made by women with SB. Women with SB had a significantly higher rate of cesarean delivery than women without this diagnosis (53% v 32%, p<0.001). The 46.7% of women with SB who delivered vaginally did not have significantly increased odds of a complication associated with their delivery compared to women without SB [odds ratio (OR) 1.15, 95% confidence interval (CI) 0.99 to 1.34, p=0.066]. However, women with SB who underwent a cesarean delivery did have higher odds of morbidity compared to those without (OR 1.49, 95% CI 1.25 to 1.78, p<0.001). Common complications included preterm delivery, urinary tract infection, hematologic event, and blood transfusion. Compared to women without SB, those with SB deliver more frequently by cesarean section and have higher odds of morbidity associated with cesarean delivery, but not vaginal delivery. Copyright © 2018. Published by Elsevier Inc.

Selective and sustained attention in children with spina bifida myelomeningocele.

PubMed

Caspersen, Ida Dyhr; Habekost, Thomas

2013-01-01

Spina bifida myelomeningocele (SBM) is a neural tube defect that has been related to deficits in several cognitive domains including attention. Attention function in children with SBM has often been studied using tasks that are confounded by complex motor demands or tasks that do not clearly distinguish perceptual from response-related components of attention. We used a verbal-report paradigm based on the Theory of Visual Attention (Bundesen, 1990) and a new continuous performance test, the Dual Attention to Response Task (Dockree et al., 2006), for measuring parameters of selective and sustained attention in 6 children with SBM and 18 healthy control children. The two tasks had minimal motor demands, were functionally specific and were sensitive to minor deficits. As a group, the children with SBM were significantly less efficient at filtering out irrelevant stimuli. Moreover, they exhibited frequent failures of sustained attention and response control in terms of omission errors, premature responses, and prolonged inhibition responses. All 6 children with SBM showed deficits in one or more parameters of attention; for example, three patients had elevated visual perception thresholds, but large individual variation was evident in their performance patterns, which highlights the relevance of an effective case-based assessment method in this patient group. Overall, the study demonstrates the strengths of a new testing approach for evaluating attention function in children with SBM.

[The diagnostic process in spina bifida: parents perception and viewpoint of clinical specialists].

PubMed

Herb, G; Streeck, S

1995-01-01

This is a study of the subjective experience of communicative understanding between parents of spina bifida children and medical personnel. Research methods include content analysis of data from semi-structured interviews, a questionnaire to explore the quality of life as well as conversation analytic reconstructions of the "real" communication processes during outpatient clinic which were tape-recorded. Results of the interviews with parents and personnel demonstrate the great relevance of the quality of the relationship in the providing of clinical care; equally important is that the relationship between parents and clinic staff is shaped in a reciprocal fashion. Discrepancies in the perceptions of parents and personnel indicate individual reality constructions. It is desirable that parents and personnel construct a shared reality during their interaction. With respect to this end, the emotional resources of personnel should be regarded as competences and drawn upon more systematically. The parents' role as "experts" should be validated and their active participation in the construction of the communicative situation - which is normally determined by the institution - should be encouraged.

Upper limb motor function in young adults with spina bifida and hydrocephalus

PubMed Central

Salman, M. S.; Jewell, D.; Hetherington, R.; Spiegler, B. J.; MacGregor, D. L.; Drake, J. M.; Humphreys, R. P.; Gentili, F.

2011-01-01

Objective The objective of the study was to measure upper limb motor function in young adults with spina bifida meningomyelocele (SBM) and typically developing age peers. Method Participants were 26 young adults with SBM, with a Verbal or Performance IQ score of at least 70 on the Wechsler scales, and 27 age- and gender-matched controls. Four upper limb motor function tasks were performed under four different visual and cognitive challenge conditions. Motor independence was assessed by questionnaire. Results Fewer SBM than control participants obtained perfect posture and rebound scores. The SBM group performed less accurately and was more disrupted by cognitive challenge than controls on limb dysmetria tasks. The SBM group was slower than controls on the diadochokinesis task. Adaptive motor independence was related to one upper limb motor task, arm posture, and upper rather than lower spinal lesions were associated with less motor independence. Conclusions Young adults with SBM have significant limitations in upper limb function and are more disrupted by some challenges while performing upper limb motor tasks. Within the group of young adults with SBM, upper spinal lesions compromise motor independence more than lower spinal lesions. PMID:19672605

Sexual identity and orientation in adult men and women with spina bifida.

PubMed

Szymanski, Konrad M; Hensel, Devon J; Wiener, John S; Whittam, Benjamin; Cain, Mark P; Misseri, Rosalia

2017-12-11

Sexuality has received little attention in spina bifida (SB) care. The aim of this study was to assess sexual identity and orientation in adults with SB. An international online survey to adults with SB was administered over 10-months (recruitment: SB clinics, SB organizations via social media). Collected data included demographics, sexual identity and orientation. Non-parametric tests were used for analysis. Median age of 77 men and 119 women was 35 years old (52.0% shunted, 48.5% community ambulators, 42.3% outside United States). Most commonly, men identified as male (96.1%), while 1.3% each described themselves as female, transgender and other. All women reporting sexual identity identified as female (99.2%), 0.8% not providing an answer. Most men reported heterosexual orientation (89.6%), followed by gay (7.8%) and bisexual (2.6%). Most women reported heterosexual orientation (84.9%), followed by bisexual (10.4%), gay/lesbian (2.5%), asexual (0.8%) and other (1.7%). As in the general population, sexual identity typically coincides with biological gender. Sexual orientation of adults with SB mirrors the general population. Due to self-selection, these findings likely do not reflect exact prevalence in the SB population.

Evaluation of sexual function in young men with spina bifida and myelomeningocele using the International Index of Erectile Function.

PubMed

Gamé, Xavier; Moscovici, Jacques; Gamé, Laurence; Sarramon, Jean-Pierre; Rischmann, Pascal; Malavaud, Bernard

2006-03-01

To assess sexual function in young men with spina bifida and myelomeningocele. Between November 2003 and February 2004, a cross-sectional study was performed in 55 men older than 18 years of age who had been regularly followed up for myelomeningocele since childhood, between 1961 and 1985, in the Pediatric Internal Surgery Department. The International Index of Erectile Function (IIEF) questionnaire was mailed to each man. The response rate was 72.7%. Of the 40 men who replied, 16 (40%) had had sexual intercourse at least once during the previous month. These were the older men (age 31.9 +/- 5.7 years versus 27.7 +/- 5.5 years, P = 0.027). The IIEF scores for the whole group were erectile function 11.61 +/- 9.44, orgasmic function 3.53 +/- 3.86, sexual desire 6.94 +/- 2.4, intercourse satisfaction 3.7 +/- 4.81, and overall satisfaction 4.7 +/- 3.34. According to the classification of Cappelleri, of the 16 men who had had sexual intercourse during the previous month, 4 had no erectile dysfunction, 3 had mild, 4 mild to moderate, and 5 severe dysfunction. Erectile function was statistically related to the ability to maintain erections (mean IIEF score 4 and 5 for men with no erectile dysfunction versus a mean IIEF score of 4 and 5 for men with erectile dysfunction: 4.75 +/- 0.5 versus 2.00 +/- 1.32, P = 0.011 for IIEF score of 4 and 4.50 +/- 1.5 versus 3 +/- 2, P = 0.040 for IIEF score of 5). Young adult men with spina bifida and myelomeningocele begin sexual activity late. Moreover, 75% have erectile dysfunction that is related to difficulty in maintaining erections.

Variation in definitions of urinary tract infections in spina bifida patients: a systematic review.

PubMed

Madden-Fuentes, Ramiro Jose; McNamara, Erin Rebekah; Lloyd, Jessica Catherine; Wiener, John Samuel; Routh, Jonathan Charles; Seed, Patrick Casey; Ross, Sherry Sedberry

2013-07-01

Urinary tract infections (UTIs) are a common source of morbidity among children with spina bifida (SB) and are a frequently reported outcome in studies of this patient population. However, the criteria for a diagnosis of UTI are often not stated. We evaluated the literature on SB patients for the criteria that authors use to define parameters in reporting UTI outcomes. Embase and Medline were queried with the medical subject heading terms “spinal dysraphism,” “myelomeningocele,” “infection,”and “urinary tract infection.” A second search with the exploded term“spina bifida” and “urinary tract infection” was performed. Original research studies reporting a UTI outcome in SB patients were included and evaluated by 2 independent reviewers for the presence of a UTI definition and diagnostic criteria. We identified 872 publications, of which 124 met inclusion criteria. Forty-five of 124 (36.3%) studies reporting UTI as an outcome provided a definition of UTI. Of 124 studies, 28 (22.6%) were published in pediatric journals and 69 (55.6%) in urology journals. A definition of UTI was provided in 11 (39.3%) and 26 (37.7%) studies, respectively. “Fever,culture, and symptoms” defined a UTI in 17 of 45 studies. Journal category and presence of UTI definitions did not correlate (P = .71). Explicit definitions for UTI are heterogeneous and infrequently applied in studies of SB patients, limiting study reliability and estimates of true UTI rates in this population. Future studies will benefit from the development and application of a standard definition for UTI in this population.

Characterizing Pelvic Organ Prolapse in Adult Spina Bifida Patients.

PubMed

Liu, Joceline S; Vo, Amanda X; Doolittle, Johnathan; Hamoui, Nabeel; Lewicky-Gaupp, Christina; Kielb, Stephanie J

2016-11-01

To report the distribution of pelvic organ prolapse (POP) stages in adult spina bifida (SB) patients. The severity of POP in the SB population has not been previously reported. Retrospective review of SB patients ≥18 years with a documented POP quantification examination between 2006 and 2014 were included. Patient demographics, gestation, parity, POP quantification examinations and prolapse symptoms were obtained. Thirty-three SB patients were identified with a mean age of 33.2 years. Five patients (15.2%) had stage 0 prolapse, 12 (36.4%) had stage 1, 12 (36.4%) had stage 2, 3 (9.1%) had stage 3, and 1 (3.0%) had stage 4. Of the 16 patients with advanced POP (stage 2 prolapse or greater), only 6 patients (37.5%) reported symptoms related to POP. All 6 symptomatic patients endorsed sensation of a vaginal bulge. Two of the 6 patients also reported dyspareunia. Additionally, 1 patient with advanced POP presented with vaginal bulge, noted by a caregiver, and cervical bleeding, but was otherwise asymptomatic. Twenty-four patients (72.7%) were nulliparous, and 12 of the 24 nulliparous patients (50%) demonstrated prolapse. Despite young age and frequent nulliparity, patients with SB are more likely to have POP than the general population. Additionally, the majority of SB patients with prolapse are asymptomatic. Assessment of pelvic organ prolapse should be included in the evaluation of adult SB females due to the low rate of symptoms even in the setting of advanced stage prolapse and potential impact on both urinary and bowel function. Copyright © 2016 Elsevier Inc. All rights reserved.

Percutaneous fetoscopic closure of large open spina bifida using a bilaminar skin substitute.

PubMed

Lapa Pedreira, Denise A; Acacio, Gregório L; Gonçalves, Rodrigo T; Sá, Renato Augusto M; Brandt, Reynaldo A; Chmait, Ramen; Kontopoulos, Eftichia; Quintero, Ruben A

2018-01-04

We have previously described our percutaneous fetoscopic technique for the treatment of open spina bifida (OSB). However, approximately 20-30% of OSB defects are too large to allow primary skin closure. We hereby describe a modification of our standard technique using a bilaminar skin substitute to allow closure of such large spinal defects. The aim of this study was to report our clinical experience with the use of a bilaminar skin substitute and a percutaneous fetoscopic technique for the prenatal closure of large spina bifida defects. Surgeries were performed between 24.0 and 28.9 gestational weeks under general anesthesia, using an entirely percutaneous fetoscopic approach with partial CO2 insufflation of the uterine cavity, as previously described. If there was enough skin to be sutured in the midline, only a biocellulose patch was placed over the placode. In cases where skin approximation was not possible, a bilaminar skin substitute (two layers: one silicone and one dermal matrix) was placed over the biocellulose. The surgical site was assessed at birth, and long-term follow-up was performed. Forty-seven consecutive fetuses underwent percutaneous fetoscopic OSB repair. Premature preterm rupture of membranes (PPROM) occurred in 38 (84%), and the mean gestational age at delivery was 32,8 + 2.5 weeks. A bilaminar skin substitute was required in 13 (29%), of which 5 was associated with myeloschisis. In all cases the skin substitute was found at the surgical site, at birth. In 3 (15%) of these cases, postnatal additional repair was needed. In the other 10 cases, the silicone layer detached spontaneously from the dermal matrix (average 25 days after birth), and the lesion healed by secondary-intention. Operating time was significantly longer in cases requiring the bilaminar skin substitute (additional 42 minutes). The subgroup with bilaminar skin substitute had similar PPROM rate and delivery gestational age compared to the one patch group. Complete reversal of

The effects of orthoses, footwear, and walking aids on the walking ability of children and adolescents with spina bifida: A systematic review using International Classification of Functioning, Disability and Health for Children and Youth (ICF-CY) as a reference framework.

PubMed

Ivanyi, Barbara; Schoenmakers, Marja; van Veen, Natasja; Maathuis, Karel; Nollet, Frans; Nederhand, Marc

2015-12-01

To date no review has been published that analyzes the efficacy of assistive devices on the walking ability of ambulant children and adolescents with spina bifida and, differentiates between the effects of treatment on gait parameters, walking capacity, and walking performance. To review the literature for evidence of the efficacy of orthotic management, footwear, and walking aids on gait and walking outcomes in ambulant children and adolescents with spina bifida. Systematic literature review. A systematic literature search was performed to identify studies that evaluated the effect of any type of lower limb orthoses, orthopedic footwear, or walking aids in ambulant children (≤18 years old) with spina bifida. Outcome measures and treatment results for gait parameters, walking capacity, and walking performance were identified using International Classification of Functioning, Disability and Health for Children and Youth (ICF-CY) as the reference framework. Six case-crossover studies met the criteria and were included in this systematic review. Four studies provided indications of the efficacy of the ankle-foot orthosis in improving a number of kinematic and kinetic properties of gait, stride characteristics, and the oxygen cost of walking. Two studies indicated that walking with forearm crutches may have a favorable effect on gait. The evidence level of these studies was low, and none of the studies assessed the efficacy of the intervention on walking capacity and walking performance. Some data support the efficacy of using ankle-foot orthosis and crutches for gait and walking outcomes at the body functions and structures level of the ICF-CY. Potential benefits at the activities and participation level have not been investigated. This is the first evidence-based systematic review of the efficacy of assistive devices for gait and walking outcomes for children with spina bifida. The ICF-CY is used as a reference framework to differentiate the effects of treatment

Fetoscopic single-layer repair of open spina bifida using a cellulose patch: preliminary clinical experience.

PubMed

Pedreira, Denise A L; Zanon, Nelci; de Sá, Renato A M; Acacio, Gregório L; Ogeda, Edilson; Belem, Teresa M L O U; Chmait, Ramen H; Kontopoulos, Eftichia; Quintero, Ruben A

2014-11-01

To report our preliminary clinical experience in the antenatal correction of open spina bifida (OSB) using a fetoscopic approach and a simplified closure technique. Four fetuses with lumbar-sacral defects were operated in utero from 25 to 27 weeks. Surgeries were performed percutaneously under general anesthesia using three trocars and partial carbon dioxide insufflation. After dissection of the neural placode, the surrounding skin was closed over a cellulose patch using a single continuous stitch. Surgical closure was successful in three of the four cases. All successful cases showed improvement of the hindbrain herniation and no neonatal neurosurgical repair was required in two cases. Delivery occurred between 31 and 33 weeks, and no fetal or neonatal deaths occurred. Ventriculoperitoneal shunting was not needed in two out of the 3 successful cases. Our preliminary experience suggests that definitive fetoscopic repair of OSB is feasible using our innovative surgical technique. A phase I trial for the fetoscopic correction of OSB with this technique is currently being conducted.

The 14.6 kd rubber elongation factor (Hev b 1) and 24 kd (Hev b 3) rubber particle proteins are recognized by IgE from patients with spina bifida and latex allergy.

PubMed

Yeang, H Y; Cheong, K F; Sunderasan, E; Hamzah, S; Chew, N P; Hamid, S; Hamilton, R G; Cardosa, M J

1996-09-01

Two major water-insoluble proteins are located on the surface of rubber particles in Hevea brasiliensis latex. A 14.6 kd protein (Hev b 1), found mainly on large rubber particles (> 350 mm in diameter), and a 24 kd protein (Hev b 3), found mainly on small rubber particles (average diameter, 70 nm), are recognized by IgE from patients with spina bifida and latex allergy. Although Hev b 1 (also called the rubber elongation factor [REF]) has previously been reported as a major latex allergen, this conclusion has been disputed on the basis of results from other studies. The allergenicity of Hev b 1 is verified in this study by testing the recombinant protein generated from its gene. Because allergenicity is confined to patients with spina bifida and not observed in adults sensitive to latex, it is not a major latex allergen. The identification of Hev b 3 as another allergen originating from rubber particles is confirmed by immunogold labeling and electron microscopy. Observations with the monoclonal antibody USM/RC2 developed against Hev b 3 show that the protein has a tendency to fragment into several polypeptides of lower molecular weight (from 24 kd to about 5 kd) when stored at -20 degrees C. There is also indication of protein aggregation from the appearance of proteins with molecular weights greater than 24 kd. Fragmentation of Hev b 3 is induced immediately on he addition of latex B-serum, which is normally compartmentalized in the lutoids in fresh latex. In the preparation of ammoniated latex (used for the manufacture of latex products), the lutoids are ruptured, and the released B-serum reacts with Hev b 3 on the rubber particles to give rise to an array of low molecular weight polypeptides that are allergenic to patients with spina bifida.

Neuromuscular training based on whole body vibration in children with spina bifida: a retrospective analysis of a new physiotherapy treatment program.

PubMed

Stark, C; Hoyer-Kuhn, H-K; Semler, O; Hoebing, L; Duran, I; Cremer, R; Schoenau, E

2015-02-01

Spina bifida is the most common congenital cause of spinal cord lesions resulting in paralysis and secondary conditions like osteoporosis due to immobilization. Physiotherapy is performed for optimizing muscle function and prevention of secondary conditions. Therefore, training of the musculoskeletal system is one of the major aims in the rehabilitation of children with spinal cord lesions. The neuromuscular physiotherapy treatment program Auf die Beine combines 6 months of home-based whole body vibration (WBV) with interval blocks at the rehabilitation center: 13 days of intensive therapy at the beginning and 6 days after 3 months. Measurements are taken at the beginning (M0), after 6 months of training (M6), and after a 6-month follow-up period (M12). Gait parameters are assessed by ground reaction force and motor function by the Gross Motor Function Measurement (GMFM-66). Sixty children (mean age 8.71 ± 4.7 years) who participated in the program until February 2014 were retrospectively analyzed. Walking velocity improved significantly by 0.11 m/s (p = 0.0026) and mobility (GMFM-66) by 2.54 points (p = 0.001) after the training. All changes at follow-up were not significant, but significant changes were observed after the training period. Decreased contractures were observed with increased muscle function. Significant improvements in motor function were observed after the active training period of the new neuromuscular training concept. This first analysis of the new neuromuscular rehabilitation concept Auf die Beine showed encouraging results for a safe and efficient physiotherapy treatment program which increases motor function in children with spina bifida.

Effect of Preschool Working Memory, Language, and Narrative Abilities on Inferential Comprehension at School-Age in Children with Spina Bifida Myelomeningocele and Typically Developing Children

PubMed Central

Pike, Meredith; Swank, Paul; Taylor, Heather; Landry, Susan; Barnes, Marcia A.

2014-01-01

Children with spina bifida myelomeningocele (SBM) are more likely to display a pattern of good-decoding/poor comprehension than their neurologically intact peers. The goals of the current study were to (1) examine the cognitive origins of one of the component skills of comprehension, bridging inferences, from a developmental perspective and (2) to test the effects of those relations on reading comprehension achievement. Data from a sample of children with SBM and a control group (n = 78) who participated in a longitudinal study were taken from age 36-month and 9.5-year time points. A multiple mediation model provided evidence that three preschool cognitive abilities (working memory/inhibitory control, oral comprehension, narrative recall), could partially explain the relation between group and bridging inference skill. A second mediation model supported that each of the 36-month abilities had an indirect effect on reading comprehension through bridging inference skill. Findings contribute to an understanding of both typical and atypical comprehension development, blending theories from the developmental, cognitive, and neuropsychological literature. PMID:23388065

Effect of preschool working memory, language, and narrative abilities on inferential comprehension at school-age in children with spina bifida myelomeningocele and typically developing children.

PubMed

Pike, Meredith; Swank, Paul; Taylor, Heather; Landry, Susan; Barnes, Marcia A

2013-04-01

Children with spina bifida myelomeningocele (SBM) are more likely to display a pattern of good-decoding/poor comprehension than their neurologically intact peers. The goals of the current study were to (1) examine the cognitive origins of one of the component skills of comprehension, bridging inferences, from a developmental perspective and (2) to test the effects of those relations on reading comprehension achievement. Data from a sample of children with SBM and a control group (n = 78) who participated in a longitudinal study were taken from age 36-month and 9.5-year time points. A multiple mediation model provided evidence that three preschool cognitive abilities (working memory/inhibitory control, oral comprehension, narrative recall), could partially explain the relation between group and bridging inference skill. A second mediation model supported that each of the 36-month abilities had an indirect effect on reading comprehension through bridging inference skill. Findings contribute to an understanding of both typical and atypical comprehension development, blending theories from the developmental, cognitive, and neuropsychological literature.

Attention lapses in children with spina bifida and hydrocephalus and children with attention-deficit/hyperactivity disorder.

PubMed

De la Torre, Gabriel G; Martin, Alba; Cervantes, Elizabeth; Guil, Rocio; Mestre, Jose M

2017-08-01

Attentional lapses are usually defined as temporary and often brief shifts of attention away from some primary task to unrelated internal information processing. This study addressed the incidence of attention lapses and differences in attentional functioning in 30 children with attention-deficit/hyperactivity disorder (ADHD), 26 healthy children, and 29 children with spina bifida myelomeningocele and hydrocephalus (SBH). Assessments were conducted using computerized tonic and phasic attention tests, the Symbol Digit Modalities Test (SDMT), and the Trail Making Test Form B (TMT-B). The group with SBH differed from normal controls on cognitive measures of attention and executive functions. The ADHD group obtained lower scores than the SBH group and healthy children. ANOVA results showed that there was an effect of shunt revisions and shunt-related infections on neuropsychological performance. Lapses of attention together with reaction time may thus represent important factors for the understanding of cognitive deficits in SBH.

Parent perceptions of health promotion for school-age children with spina bifida.

PubMed

Luther, Brenda L; Christian, Becky J

2017-01-01

To gain insight into how parents develop their beliefs of health promotion for their children with spina bifida (SB) and how they develop and promote health promotion practices for their children. Qualitative, exploratory design with semi-structured interviews of parents of children between 6 and 12 years of age diagnosed with SB was used for this study. Perceptions of health promotion were maintaining healthy bowel function and managing SB care. Good bowel function and SB management is health promotion and adequate bowel function is viewed as a marker of health. Maintaining healthy bowel function was identified by parents as the key marker of health for their children with SB. Further, the term health promotion brought up plans, concerns, and goals more related to their child's physiologic functioning and health care needs rather than promoting health and avoiding preventable disease. Nurses and healthcare providers are in unique and powerful positions for strategizing with parents on how to integrate health promotion into the lives of children with SB. Team-based, whole-person, holistic assessment and teaching inclusive of promoting healthy lifestyle behaviors in addition to providing excellent care related to their physiologic systems affected by SB can improve how we promote health for these children. © 2017 Wiley Periodicals, Inc.

A girl with spina bifida, an extra leg, and ectopic intestinal loops--a "foetus in foetu" or a whim of the neural crest?

PubMed

Lende, G; Wendemu, W; Mørk, S; Wester, K

2007-10-01

This article describes a girl with an extra leg attached to her lower back, combined with a spina bifida and a myelomeningocele. Despite lacking sensory or motor functions, the leg grew proportionately with the rest of the body. The bony structures were almost normal. A cross section showed fat tissue with some centrally situated blood vessels, nerve bundles, and muscular fragments. Proximally, an isolated colon loop was found. The extra leg and intestine respected the dorsal fascia, without connection with the peritoneal or retroperitoneal compartments. The finding is discussed with reference to existing hypotheses for limb formation.

The assessment of weight status in children and young people attending a spina bifida outpatient clinic: a retrospective medical record review

PubMed Central

Swift, Judy Anne; Yung, Emily; Lyons, Julia; Church, Paige

2013-01-01

Purpose Children with disabilities are two to three times more likely to become overweight or obese than typically developing children. Children with spina bifida (SB) are at particular risk, yet obesity prevalence and weight management with this population are under-researched. This retrospective chart review explored how weight is assessed and discussed in a children’s SB outpatient clinic. Method Height/weight data were extracted from records of children aged 2–18 with a diagnosis of SB attending an outpatient clinic at least once between June 2009–2011. Body mass index was calculated and classified using Centers for Disease Control and Prevention cut-offs. Notes around weight, diet and physical/sedentary activities were transcribed verbatim and analysed using descriptive thematic analysis. Results Of 180 eligible patients identified, only 63 records had sufficient data to calculate BMI; 15 patients were overweight (23.81%) and 11 obese (17.46%). Weight and physical activity discussions were typically related to function (e.g. mobility, pain). Diet discussions focused on bowel and bladder function and dietary challenges. Conclusions Anthropometrics were infrequently recorded, leaving an incomplete picture of weight status in children with SB and suggesting that weight is not prioritised. Bowel/bladder function was highlighted over other benefits of a healthy body weight, indicating that health promotion opportunities are being missed. Implications for Rehabilitation It is important to assess, categorise and record anthropometric data for children and youth with spina bifida as they may be at particular risk of excess weight. Information around weight categorisation should be discussed openly and non-judgmentally with children and their families. Health promotion opportunities may be missed by focusing solely on symptom management or function. Healthcare professionals should emphasise the broad benefits of healthy eating and physical activity, offering

The assessment of weight status in children and young people attending a spina bifida outpatient clinic: a retrospective medical record review.

PubMed

McPherson, Amy C; Swift, Judy Anne; Yung, Emily; Lyons, Julia; Church, Paige

2013-01-01

Children with disabilities are two to three times more likely to become overweight or obese than typically developing children. Children with spina bifida (SB) are at particular risk, yet obesity prevalence and weight management with this population are under-researched. This retrospective chart review explored how weight is assessed and discussed in a children's SB outpatient clinic. Height/weight data were extracted from records of children aged 2-18 with a diagnosis of SB attending an outpatient clinic at least once between June 2009-2011. Body mass index was calculated and classified using Centers for Disease Control and Prevention cut-offs. Notes around weight, diet and physical/sedentary activities were transcribed verbatim and analysed using descriptive thematic analysis. Of 180 eligible patients identified, only 63 records had sufficient data to calculate BMI; 15 patients were overweight (23.81%) and 11 obese (17.46%). Weight and physical activity discussions were typically related to function (e.g. mobility, pain). Diet discussions focused on bowel and bladder function and dietary challenges. Anthropometrics were infrequently recorded, leaving an incomplete picture of weight status in children with SB and suggesting that weight is not prioritised. Bowel/bladder function was highlighted over other benefits of a healthy body weight, indicating that health promotion opportunities are being missed. Implications for Rehabilitation It is important to assess, categorise and record anthropometric data for children and youth with spina bifida as they may be at particular risk of excess weight. Information around weight categorisation should be discussed openly and non-judgmentally with children and their families. Health promotion opportunities may be missed by focusing solely on symptom management or function. Healthcare professionals should emphasise the broad benefits of healthy eating and physical activity, offering strategies to enable the child to incorporate

Risk of spina bifida and maternal cigarette, alcohol, and coffee use during the first month of pregnancy.

PubMed

Benedum, Corey M; Yazdy, Mahsa M; Mitchell, Allen A; Werler, Martha M

2013-08-02

This study was conducted to assess the association between the risks of spina bifida (SB) in relation to cigarette, alcohol, and caffeine consumption by women during the first month of pregnancy. Between 1988-2012, this multi-center case-control study interviewed mothers of 776 SB cases and 8,756 controls about pregnancy events and exposures. We evaluated cigarette smoking, frequency of alcohol drinking, and caffeine intake during the first lunar month of pregnancy in relation to SB risk. Logistic regression models were used to calculate adjusted odds ratios and 95% confidence intervals. Levels of cigarette smoking (1-9 and ≥10/day), alcohol intake (average ≥4 drinks/day) and caffeine intake (<1, 1, and ≥2 cups/day) were not likely to be associated with increased risk of SB. Further, results were similar among women who ingested less than the recommended amount of folic acid (400 μg/day).

The influence of social adjustment on normative and risky health behaviors in emerging adults with spina bifida.

PubMed

Murray, Caitlin B; Lennon, Jaclyn M; Devine, Katie A; Holmbeck, Grayson N; Klages, Kimberly; Potthoff, Lauren M

2014-10-01

To understand the rates of normative and risky health behaviors and the influence of prior and current social adjustment on health risk behaviors in emerging adults with spina bifida (SB). These data are part of a larger longitudinal study of youth with SB; at ages 18-19, 50 emerging adults with SB and 60 typically developing (TD) youth participated. Social adjustment was measured at ages 12/13, 14/15, 16/17, and 18/19. Substance use and sexual activity were self-reported by emerging adults. The SB group reported similar frequencies (i.e., number of days in the previous month) of cigarette and marijuana use. Fewer individuals with SB reported initiation of both alcohol use (i.e., ever used) and sexual activity (i.e., ever had sex) compared to TD peers. The SB group also reported less frequent alcohol use and fewer sexual partners. Better social adjustment during early adolescence (ages 12/13) predicted more frequent alcohol use and a greater number of sexual partners for all youth. Social adjustment also mediated the effect of group status on health risk behaviors. Emerging adults with SB lag behind TD peers in terms of normative initiation of alcohol use and sexual activity. However, this population participates in some risky health behaviors at similar rates compared to their TD peers (e.g., smoking). Youths' health risk behaviors may be influenced by their level of social adjustment. A challenge for future interventions for this population will be finding methods of improving social functioning without increasing the rate of health risk behavior.

Prenatal Ablation of Nicotinic Receptor alpha7 Cell Lineages Produces Lumbosacral Spina Bifida the Severity of Which is Modified by Choline and Nicotine Exposure

PubMed Central

Rogers, Scott W; Tvrdik, Petr; Capecchi, Mario R; Gahring, Lorise C

2012-01-01

Lumbosacral spina bifida is a common debilitating birth defect whose multiple causes are poorly understood. Here, we provide the first genetic delineation of cholinergic nicotinic receptor alpha7 (Chrna7) expression and link the ablation of the Chrna7 cell lineage to this condition in the mouse. Using homologous recombination, an IRES-Cre bi-cistronic cassette was introduced into the 3′ noncoding region of Chrna7 (Chrna7:Cre) for identifying cell lineages expressing this gene. This lineage first appears at embryonic day E9.0 in rhombomeres 3 and 5 of the neural tube and extends to cell subsets in most tissues by E14.5. Ablation of the Chrna7:Cre cell lineage in embryos from crosses with conditionally expressed attenuated diphtheria toxin results in precise developmental defects including omphalocele (89%) and open spina bifida (SB; 80%). We hypothesized that like humans, this defect would be modified by environmental compounds not only folic acid or choline but also nicotine. Prenatal chronic oral nicotine administration substantially worsened the defect to often include the rostral neural tube. In contrast, supplementation of the maternal diet with 2% choline decreased SB prevalence to 38% and dramatically reduced the defect severity. Folic acid supplementation only trended towards a reduced SB frequency. The omphalocele was unaffected by these interventions. These studies identify the Chrna7 cell lineage as participating in posterior neuropore closure and present a novel model of lower SB that can be substantially modified by the prenatal environment. © 2012 Wiley Periodicals, Inc. PMID:22473653

Long-term complications following bladder augmentations in patients with spina bifida: bladder calculi, perforation of the augmented bladder and upper tract deterioration.

PubMed

Husmann, Douglas A

2016-02-01

We desire to review our experience with bladder augmentation in spina bifida patients followed in a transitional and adult urologic practice. This paper will specifically focus on three major complications: bladder calculi, the most frequent complication found following bladder augmentation, perforation of the augmentation, its most lethal complication and finally we will address loss of renal function as a direct result of our surgical reconstructive procedures. We reviewed a prospective data base maintained on patients with spina bifida followed in our transitional and adult urology clinic from 1986 to date. Specific attention was given to patients who had developed bladder calculi, sustained a spontaneous perforation of the augmented bladder or had developed new onset of renal scarring or renal insufficiency (≥ stage 3 renal failure) during prolonged follow-up. The development of renal stones (P<0.05) and symptomatic urinary tract infections (P<0.0001) were found to be significantly reduced by the use of high volume (≥240 mL) daily bladder wash outs. Individuals who still developed bladder calculi recalcitrant to high volume wash outs were not benefited by the correction of underlying metabolic abnormalities or mucolytic agents. Spontaneous bladder perforations in the adult patient population with spina bifida were found to be directly correlated to substance abuse and noncompliance with intermittent catheterization, P<0.005. Deterioration of the upper tracts as defined by the new onset of renal scars occurred in 40% (32/80) of the patients managed by a ileocystoplasty and simultaneous bladder neck outlet procedure during a median follow-up interval 14 years (range, 8-45 years). Development of ≥ stage 3 chronic renal failure occurred within 38% (12/32) of the patients with scarring i.e., 15% (12/80) of the total patient population. Prior to the development of the renal scarring, 69% (22/32) of the patients had been noncompliant with intermittent

Long-term complications following bladder augmentations in patients with spina bifida: bladder calculi, perforation of the augmented bladder and upper tract deterioration

PubMed Central

2016-01-01

Background We desire to review our experience with bladder augmentation in spina bifida patients followed in a transitional and adult urologic practice. This paper will specifically focus on three major complications: bladder calculi, the most frequent complication found following bladder augmentation, perforation of the augmentation, its most lethal complication and finally we will address loss of renal function as a direct result of our surgical reconstructive procedures. Methods We reviewed a prospective data base maintained on patients with spina bifida followed in our transitional and adult urology clinic from 1986 to date. Specific attention was given to patients who had developed bladder calculi, sustained a spontaneous perforation of the augmented bladder or had developed new onset of renal scarring or renal insufficiency (≥ stage 3 renal failure) during prolonged follow-up. Results The development of renal stones (P<0.05) and symptomatic urinary tract infections (P<0.0001) were found to be significantly reduced by the use of high volume (≥240 mL) daily bladder wash outs. Individuals who still developed bladder calculi recalcitrant to high volume wash outs were not benefited by the correction of underlying metabolic abnormalities or mucolytic agents. Spontaneous bladder perforations in the adult patient population with spina bifida were found to be directly correlated to substance abuse and noncompliance with intermittent catheterization, P<0.005. Deterioration of the upper tracts as defined by the new onset of renal scars occurred in 40% (32/80) of the patients managed by a ileocystoplasty and simultaneous bladder neck outlet procedure during a median follow-up interval 14 years (range, 8–45 years). Development of ≥ stage 3 chronic renal failure occurred within 38% (12/32) of the patients with scarring i.e., 15% (12/80) of the total patient population. Prior to the development of the renal scarring, 69% (22/32) of the patients had been noncompliant

Formate supplementation enhances folate-dependent nucleotide biosynthesis and prevents spina bifida in a mouse model of folic acid-resistant neural tube defects.

PubMed

Sudiwala, Sonia; De Castro, Sandra C P; Leung, Kit-Yi; Brosnan, John T; Brosnan, Margaret E; Mills, Kevin; Copp, Andrew J; Greene, Nicholas D E

2016-07-01

The curly tail mouse provides a model for neural tube defects (spina bifida and exencephaly) that are resistant to prevention by folic acid. The major ct gene, responsible for spina bifida, corresponds to a hypomorphic allele of grainyhead-like 3 (Grhl3) but the frequency of NTDs is strongly influenced by modifiers in the genetic background. Moreover, exencephaly in the curly tail strain is not prevented by reinstatement of Grhl3 expression. In the current study we found that expression of Mthfd1L, encoding a key component of mitochondrial folate one-carbon metabolism (FOCM), is significantly reduced in ct/ct embryos compared to a partially congenic wild-type strain. This expression change is not attributable to regulation by Grhl3 or the genetic background at the Mthfd1L locus. Mitochondrial FOCM provides one-carbon units as formate for FOCM reactions in the cytosol. We found that maternal supplementation with formate prevented NTDs in curly tail embryos and also resulted in increased litter size. Analysis of the folate profile of neurulation-stage embryos showed that formate supplementation resulted in an increased proportion of formyl-THF and THF but a reduction in proportion of 5-methyl THF. In contrast, THF decreased and 5-methyl THF was relatively more abundant in the liver of supplemented dams than in controls. In embryos cultured through the period of spinal neurulation, incorporation of labelled thymidine and adenine into genomic DNA was suppressed by supplemental formate, suggesting that de novo folate-dependent biosynthesis of nucleotides (thymidylate and purines) was enhanced. We hypothesise that reduced Mthfd1L expression may contribute to susceptibility to NTDs in the curly tail strain and that formate acts as a one-carbon donor to prevent NTDs. Copyright © 2016 The Authors. Published by Elsevier B.V. All rights reserved.

The Influence of Social Adjustment on Normative and Risky Health Behaviors in Emerging Adults With Spina Bifida

PubMed Central

Murray, Caitlin B.; Lennon, Jaclyn M.; Devine, Katie A.; Holmbeck, Grayson N.; Klages, Kimberly; Potthoff, Lauren M.

2015-01-01

Objective To understand the rates of normative and risky health behaviors and the influence of prior and current social adjustment on health risk behaviors in emerging adults with spina bifida (SB). Method These data are part of a larger longitudinal study of youth with SB; at ages 18–19, 50 emerging adults with SB and 60 typically developing (TD) youth participated. Social adjustment was measured at ages 12/13, 14/15, 16/17, and 18/19. Substance use and sexual activity were self-reported by emerging adults. Results The SB group reported similar frequencies (i.e., number of days in the previous month) of cigarette and marijuana use. Fewer individuals with SB reported initiation of both alcohol use (i.e., ever used) and sexual activity (i.e., ever had sex) compared to TD peers. The SB group also reported less frequent alcohol use and fewer sexual partners. Better social adjustment during early adolescence (ages 12/13) predicted more frequent alcohol use and a greater number of sexual partners for all youth. Social adjustment also mediated the effect of group status on health risk behaviors. Conclusions Emerging adults with SB lag behind TD peers in terms of normative initiation of alcohol use and sexual activity. However, this population participates in some risky health behaviors at similar rates compared to their TD peers (e.g., smoking). Youths’ health risk behaviors may be influenced by their level of social adjustment. A challenge for future interventions for this population will be finding methods of improving social functioning without increasing the rate of health risk behavior. PMID:24490647

Virtual socialization in adults with spina bifida.

PubMed

Chan, Wendy M; Dicianno, Brad E

2011-03-01

To use spina bifida (SB) as a model of chronic physical disability to study the associations of virtual socialization, friendships, and quality of life (QOL) in adults. Cross-sectional survey. Subjects were recruited from residential living facilities, outpatient clinics, and the University of Pittsburgh Medical Center (UPMC) research registry. Inclusion criteria were age between 18 and 80 years and clinical diagnoses of SB cystica (myelomeningocele) and hydrocephalus. The exclusion criterion was the diagnosis of SB occulta. Sixty-three eligible adults were enrolled, and all completed the study. The survey via questionnaire was performed in person or over the telephone. Data collected included the World Health Organization's Medical Outcomes Study 26-item Short Form, Economic Self-Sufficiency from the Craig Handicap Assessment and Reporting Technique Short Form, virtual socializing habits, and number of friends. Three linear regression models were performed, each with a unique dependent variable: number of friends, psychological QOL, or social QOL. The following independent variables were included in all models: age, gender, ethnicity, economic self-sufficiency, marital status, education level, lesion level, health status, user group, collection method, and time spent virtually socializing. In addition, each regression model included the dependent variables from the other 2 models in its independent variables. Increased degree of virtual socialization (VS) was associated with a greater number of friends (P = .003, r = .684). Mean (standard deviation) numbers of friends by VS groups were the following: users, n = 4.9 ± 2.7; semi-users, n = 3.8 ± 2.7; and nonusers, n = 2.1 ± 2.3, which represent a 2.3 times greater number of friends between the users and nonusers. The effect of virtual socialization on QOL was also positive, however, not statistically significant. People with chronic physical disabilities, such as SB, are at high risk for peer rejection and long

Relations between Brain Structure and Attentional Function in Spina Bifida: Utilization of Robust Statistical Approaches

PubMed Central

Kulesz, Paulina A.; Tian, Siva; Juranek, Jenifer; Fletcher, Jack M.; Francis, David J.

2015-01-01

Objective Weak structure-function relations for brain and behavior may stem from problems in estimating these relations in small clinical samples with frequently occurring outliers. In the current project, we focused on the utility of using alternative statistics to estimate these relations. Method Fifty-four children with spina bifida meningomyelocele performed attention tasks and received MRI of the brain. Using a bootstrap sampling process, the Pearson product moment correlation was compared with four robust correlations: the percentage bend correlation, the Winsorized correlation, the skipped correlation using the Donoho-Gasko median, and the skipped correlation using the minimum volume ellipsoid estimator Results All methods yielded similar estimates of the relations between measures of brain volume and attention performance. The similarity of estimates across correlation methods suggested that the weak structure-function relations previously found in many studies are not readily attributable to the presence of outlying observations and other factors that violate the assumptions behind the Pearson correlation. Conclusions Given the difficulty of assembling large samples for brain-behavior studies, estimating correlations using multiple, robust methods may enhance the statistical conclusion validity of studies yielding small, but often clinically significant, correlations. PMID:25495830

Prospective sonographic detection of spina bifida at 11-14 weeks and systematic literature review.

PubMed

Orlandi, Emanuela; Rossi, Cinzia; Perino, Antonio; Cucinella, Gaspare; Orlandi, Francesco

2016-01-01

To conduct a literature review to assess the effectiveness of first trimester ultrasonographic markers of spina bifida (SB) integrating data with our prospective experience. The analysis of the SB cases that we prospectively detected in the first trimester, between January 2012 and February 2014, and a systematic review of all the papers evaluating the effectiveness of SB ultrasonographic markers at 11-14 weeks, namely brain stem diameter (BS), fourth ventricle/intracranial translucency (IT), cisterna magna (CM), brain stem/occipital bone distance (BSOB), the ratio between BS and BSOB. Some studies assess only the effectiveness of IT, others include more parameters, and few include them all. We prospectively detected four SB cases, three open (OSB) and one closed (CSB), in a low risk population undergoing first trimester screening. In the three OSB, CM (in 2/3 cases) and BSOB (3/3) distance were below the 5th percentile, BS and BS/BSOB ratio (3/3) were above the 95th percentile. In the CSB, all the measurements were within normal limits. The literature and our data agree that most fetuses with OSB demonstrate in the first trimester positive sonographic markers in the posterior fossa, but additional prospective studies are needed to establish the best protocol for OSB screening.

Mental health and parenting characteristics of caregivers of children with spina bifida.

PubMed

Malm-Buatsi, Elizabeth; Aston, Christopher E; Ryan, Jamie; Tao, Yeun; Palmer, Blake W; Kropp, Bradley P; Klein, Jake; Wisniewski, Amy B; Frimberger, Dominic

2015-04-01

Within the chronic medical illness literature, associations exist between caring for an affected child and parent mental health. The few studies examining both mothers and fathers provide mixed results. The purpose of this study is to examine associations between caregiver anxiety, depression, and parenting variables in caregivers of youth with SB as these relate to marital status, age, education, household income, work status, and child's severity of SB. The aim of this study is to examine associations between anxiety, depression, and parenting variables in caregivers of youth with spina bifida and how they relate to demographic and disease variables. Exploratory analyses examined the relationship between participation in support activities and depressive and anxious symptomatology and parenting characteristics. Eighty-four primary caregivers (49 mothers) of 51 youth with spina bifida completed measures of depressive and anxious symptomology, parenting stress, parent overprotection, and perceived child vulnerability. There were differences between mothers and fathers on several parenting characteristics; however, these were related more to marital status and employment than to gender of the caretaker per se. In the 33 married/remarried couples for whom both spouses participated, stress for the mothers was correlated with stress for the fathers. This correlation was strongest in the 12 married couples in which the mother works. Higher perceived vulnerability scores were reported in parents of SB patients in the younger age group, especially preschoolers (0-4 years). Parents of children with shunts reported more anxiety, depression and perceived child vulnerability. Both male and female caregivers of younger children reported significantly higher protectiveness scores. Involvement in recreational activities with other families affected by SB was associated with more positive parenting characteristics for mothers. Stress and protectiveness were found to be positively

Auditory interhemispheric transfer in relation to patterns of partial agenesis and hypoplasia of the corpus callosum in spina bifida meningomyelocele

PubMed Central

Hannay, H. Julia; Walker, Amy; Dennis, Maureen; Kramer, Larry; Blaser, Susan; Fletcher, Jack M.

2009-01-01

Spina bifida meningomyelocele with hydrocephalus (SBM) is commonly associated with anomalies of the corpus callosum (CC). We describe MRI patterns of regional CC agenesis and relate CC anomalies to functional laterality based on a dichotic listening test in 90 children with SBM and 27 typically developing controls. Many children with SBM (n = 40) showed regional CC anomalies in the form of agenesis of the rostrum and0or splenium, and a smaller number (n = 20) showed hypoplasia (thinning) of all CC regions (rostrum, genu, body, and splenium). The expected right ear advantage (REA) was exhibited by normal controls and children with SBM having a normal or hypoplastic splenium. It was not shown by children with SBM who were left handed, missing a splenium, or had a higher level spinal cord lesion. Perhaps the right hemisphere of these children is more involved in processing some aspects of linguistic stimuli. PMID:18764972

Goal management training of executive functions in patients with spina bifida: a randomized controlled trial.

PubMed

Stubberud, Jan; Langenbahn, Donna; Levine, Brian; Stanghelle, Johan; Schanke, Anne-Kristine

2013-07-01

Executive dysfunction causes significant real-life disability for patients with spina bifida (SB). However, no previous research has been directed toward the amelioration of executive functioning deficits amongst persons with SB. Goal Management Training (GMT) is a compensatory cognitive rehabilitation approach, addressing underlying deficits in sustained attention to improve executive function. GMT has received empirical support in studies of other patient groups. The purpose of the present study was to determine the efficacy of GMT in treating subjects with SB, using inpatient intervention periods. We hypothesized post-intervention changes in scores on neuropsychological measures to reflect improved attentional control, including sustained attention and inhibitory control. Thirty-eight adult subjects with SB were included in this randomized controlled trial. Inclusion was based upon the presence of executive functioning complaints. Experimental subjects (n = 24) received 21 hr of GMT, with efficacy of GMT being compared to results of subjects in a wait-list condition (n = 14). All subjects were assessed at baseline, post-intervention, and at 6-month follow-up. Findings indicated superior effects of GMT on domain-specific neuropsychological measures and on a functional "real-life" measure, all lasting at least 6 months post-treatment. These results show that deficits in executive functioning can be ameliorated in patients with congenital brain dysfunction.

Educational career and predictors of type of education in young adults with spina bifida.

PubMed

Barf, H A; Verhoef, M; Post, M W M; Jennekens-Schinkel, A; Gooskens, R H J M; Mullaart, R A; Prevo, A J H

2004-03-01

Children with spina bifida (SB) often require special education. To date, little information is available about the educational career of these children. This study focuses on educational career and predictors of attending special education of young adults with SB, using a cross-sectional study including 178 young Dutch adults with SB aged from 16-25. The main outcome was attending regular versus special education. For searching predictive power we selected age, gender, type of SB, level of lesion, hydrocephalus (HC), number of surgical interventions, ambulation, continence and cognitive functioning. Chi-square tests and binary logistic regression were used in the data analysis. Participants with HC attended special primary education more often (59%) than participants without HC (17%). For those participants with HC, the necessity of special primary education was associated with below average intelligence (75% versus 35%), wheelchair dependence (82% versus 39%) and surgical interventions (74% versus 44%). Only half of the participants with HC followed regular secondary education, whereas for participants with SB without HC, the outcome in secondary education was similar to that of the general population (92%). Intelligence was the main predictor of attending special secondary education (odds 5.1:1), but HC (odds 4.3:1) and wheelchair dependence (odds 2.6:1) were also a significant. Other variables were not significant predictors of special secondary education.

Total prevention of folic acid-preventable spina bifida and anencephaly would reduce child mortality in India: Implications in achieving Target 3.2 of the Sustainable Development Goals.

PubMed

Kancherla, Vijaya; Oakley, Godfrey P

2018-03-15

The potential to reduce child mortality by preventing folic acid-preventable spina bifida and anencephaly (FAP SBA) is inadequately appreciated. To quantify possible reduction in FAP SBA-associated child mortality in low- and middle-income countries, we conducted an analysis to demonstrate in India, a country with more than 25 million births and 1.2 million under-five deaths each year, the decrease in neonatal, infant, and under-five mortality that would occur through total prevention of FAP SBA. We estimated the percent reductions in neonatal, infant, and under-five mortality that would have occurred in India in 2015 had all of FAP SBA been prevented. We also estimated the contributions of these reductions toward India's Sustainable Development Goals on child mortality indicators. We considered the overall prevalence of spina bifida and anencephaly in India as 5 per 1,000 live births, of which 90% were preventable with effective folic acid intervention. In the year 2015, folic acid interventions would have prevented about 116,070 cases of FAP SBA and 101,565 under-five deaths associated with FAP SBA. Prevention of FAP SBA would have reduced annually, neonatal, infant, and under-five mortality by 10.2%, 8.9%, and 8.3%, respectively. These reductions would have contributed 18.5% and 17.2% to the reductions in neonatal and under-five mortality, respectively, needed by India to achieve its 2030 Sustainable Developmental Goal Target 3.2 addressing preventable child mortality. Total prevention of FAP SBA clearly has a significant potential for immediate reductions in neonatal, infant, and under-five mortality in India, and similarly other countries. © 2017 Wiley Periodicals, Inc.

What young people with spina bifida want to know about sex, and aren’t being told

PubMed Central

LIGHT, Alexis; SHERMAN, Laura; POLVINEN, Julie; RICH, Michael

2015-01-01

Objective To examine sexual knowledge, concerns, and needs of youth with spina bifida (SB) to inform the medical community on ways to better support their sexual health. Methods As part of the Video Intervention/Prevention Assessment (VIA) – Transitions, a prospective cohort study, 309 hours of video data were collected from 14 participants (13–28 years) with SB. Participants were loaned a video camcorder for 8–12 weeks to shoot visual narratives about any aspects of their lives. VIA visual narratives were analyzed with Grounded Theory using NVivo. Results Out of 14 participants, 11 (6 females) addressed issues surrounding romantic relationships and sexuality in their video clips. Analysis revealed shared concerns, questions, and challenges regarding sexuality gathered under 4 main themes: romantic relationships, sexuality, fertility and parenthood, and need for more talk on sexuality. Conclusions Youth with SB reported difficulties in finding answers to questions regarding their sexuality, romantic relationships, and fertility. This study revealed a need for help from the medical community to inform and empower youth with SB in the area of sexual health. Through sexual and reproductive health education with patients and parents starting at an early age, medical providers can further encourage healthy emotional and physical development in adolescents transitioning into adulthood. PMID:26331351

Neuroimaging parameters in early open spina bifida detection. Further benefit in first trimester screening?

PubMed

Iliescu, D; Comănescu, A; Antsaklis, P; Tudorache, Stefania; Ghiluşi, Mirela; Comănescu, Violeta; Paulescu, Daniela; Ceauşu, Iuliana; Antsaklis, A; Novac, Liliana; Cernea, N

2011-01-01

Morphological investigation of the central nervous system (CNS) in fetuses with positive markers for open spina bifida (OSB) detection, visualized by ultrasound during the first trimester of pregnancy. Data from fetuses that underwent routine first trimester ultrasound scan in our center during September 2007-March 2011 and presented abnormal aspects of the fourth ventricle, also referred as intracranial translucency (IT), provided the morphological support to evaluate CNS features. A neuro-histological study of posterior cerebral fossa illustrated anatomical features of the structures involved in the sonographic first trimester detection of neural tube defects. Abnormal IT aspects were found in OSB cases examined in the first trimester, but also in other severe cerebral abnormalities. Brain stem antero-posterior diameter (BS) and brain stem to occipital bone (BSOB) ratio may be more specific for OSB detection. Correlations between histological aspects of posterior brain fossa and ultrasound standard assessment have been made; highlighting the anatomical features involved by the new techniques developed for OSB early detection. Preliminary results show that modern sonographic protocols are capable to detect abnormalities in the morphometry of the posterior brain. First trimester fourth ventricle abnormalities should be followed by careful CNS evaluation because are likely to appear in OSB affected fetuses, but also in other CNS severe anomalies; in such cases, normal BS and BSOB ratio may serve as indirect argument for spine integrity, if specificity is confirmed in large series of fetuses.

Effects of reading goals on reading comprehension, reading rate, and allocation of working memory in children and adolescents with spina bifida meningomyelocele

PubMed Central

ENGLISH, LIANNE; BARNES, MARCIA A.; FLETCHER, JACK M.; DENNIS, MAUREEN; RAGHUBAR, KIMBERLY P.

2011-01-01

Spina bifida meningomyelocele (SBM) is a neurodevelopmental disorder associated with intact word decoding and deficient text and discourse comprehension. This study investigated the ability to adjust reading in accordance with specified reading goals in 79 children and adolescents with SBM (9–19 years of age) and 39 controls (8–17 years of age). Both groups demonstrated slower reading times and enhanced comprehension when reading to study or to come up with a title than when reading for specific information or for entertainment. For both groups, verbal working memory contributed to comprehension performance in those reading conditions hypothesized to require more cognitive effort. Despite their sensitivity to the goals of reading, the group with SBM answered fewer comprehension questions correctly across all reading goal conditions. The results are discussed in relation to the hypothesized cognitive underpinnings of comprehension deficits in SBM and to current models of text comprehension. PMID:20338082

Relations between volumetric measures of brain structure and attentional function in spina bifida: utilization of robust statistical approaches.

PubMed

Kulesz, Paulina A; Tian, Siva; Juranek, Jenifer; Fletcher, Jack M; Francis, David J

2015-03-01

Weak structure-function relations for brain and behavior may stem from problems in estimating these relations in small clinical samples with frequently occurring outliers. In the current project, we focused on the utility of using alternative statistics to estimate these relations. Fifty-four children with spina bifida meningomyelocele performed attention tasks and received MRI of the brain. Using a bootstrap sampling process, the Pearson product-moment correlation was compared with 4 robust correlations: the percentage bend correlation, the Winsorized correlation, the skipped correlation using the Donoho-Gasko median, and the skipped correlation using the minimum volume ellipsoid estimator. All methods yielded similar estimates of the relations between measures of brain volume and attention performance. The similarity of estimates across correlation methods suggested that the weak structure-function relations previously found in many studies are not readily attributable to the presence of outlying observations and other factors that violate the assumptions behind the Pearson correlation. Given the difficulty of assembling large samples for brain-behavior studies, estimating correlations using multiple, robust methods may enhance the statistical conclusion validity of studies yielding small, but often clinically significant, correlations. PsycINFO Database Record (c) 2015 APA, all rights reserved.

Parents' psychological adjustment in families of children with Spina Bifida: a meta-analysis

PubMed Central

Vermaes, Ignace PR; Janssens, Jan MAM; Bosman, Anna MT; Gerris, Jan RM

2005-01-01

Background Spina Bifida (SB) is the second most common birth defect worldwide. Since the chances of survival in children with severe SB-forms have increased, medical care has shifted its emphasis from life-saving interventions to fostering the quality of life for these children and their families. Little is known, however, about the impact of SB on family adjustment. Reviewers have struggled to synthesize the few contradictory studies available. In this systematic review a new attempt was made to summarize the findings by using meta-analysis and by delimiting the scope of review to one concept of family adjustment: Parents' psychological adjustment. The questions addressed were: (a) do parents of children with SB have more psychological distress than controls? (b) do mothers and fathers differ? and (c) which factors correlate with variations in psychological adjustment? Methods PsycInfo, Medline, and reference lists were scanned. Thirty-three relevant studies were identified of which 15 were eligible for meta-analysis. Results SB had a negative medium-large effect on parents' psychological adjustment. The effect was more heterogeneous for mothers than for fathers. In the reviewed studies child factors (age, conduct problems, emotional problems, and mental retardation), parent factors (SES, hope, appraised stress, coping, and parenting competence), family factors (family income, partner relationship, and family climate), and environmental factors (social support) were found to be associated with variations in parents' psychological adjustment. Conclusion Meta-analysis proved to be helpful in organizing studies. Clinical implications indicate a need to be especially alert to psychological suffering in mothers of children with SB. Future research should increase sample sizes through multi-center collaborations. PMID:16120229

Inadvertent positioning of suprapubic catheter in urethra: a serious complication during change of suprapubic cystostomy in a spina bifida patient - a case report.

PubMed

Vaidyanathan, Subramanian; Hughes, Peter L; Soni, Bakul M; Oo, Tun; Singh, Gurpreet

2009-12-22

Spinal cord injury patients are at risk for developing unusual complications such as autonomic dysreflexia while changing suprapubic cystostomy. We report a male patient with spina bifida in whom the Foley catheter was placed in the urethra during change of suprapubic cystostomy with serious consequences. A male patient, born in 1972 with spina bifida and paraplaegia, underwent suprapubic cystostomy in 2003 because of increasing problems with urethral catheter. The patient would come to spinal unit for change of suprapubic catheter every four to six weeks. Two days after a routine catheter change in November 2009, this patient woke up in the morning and noticed that the suprapubic catheter had come out. He went straight to Accident and Emergency. The suprapubic catheter was changed by a health professional and this patient was sent home. But the suprapubic catheter did not drain urine. This patient developed increasing degree of pain and swelling in suprapubic region. He did not pass any urine per urethra. He felt sick and came to spinal unit five hours later. About twenty ml of contrast was injected through suprapubic catheter and X-rays were taken. The suprapubic catheter was patent; the catheter was not blocked. The Foley catheter could be seen going around in a circular manner through the urinary bladder into the urethra. The contrast did not opacify urinary bladder; but proximal urethra was seen. The tip of Foley catheter was lying in proximal urethra. The balloon of Foley catheter had been inflated in urethra. When the balloon of Foley catheter was deflated, this patient developed massive bleeding per urethra. A sterile 22 French Foley catheter was inserted through suprapubic track. The catheter drained bloody urine. He was admitted to spinal unit and received intravenous fluids and meropenem. Haematuria subsided after 48 hours. The patient was discharged home a week later in a stable condition. This case shows that serious complications can occur during

Discrepancies in mother and child perceptions of spina bifida medical responsibilities during the transition to adolescence: associations with family conflict and medical adherence.

PubMed

Psihogios, Alexandra M; Holmbeck, Grayson N

2013-09-01

This study investigated mother-child discrepancies over perceptions of who is responsible for spina bifida (SB) medical tasks in relation to family conflict and medical adherence. 140 youth with SB and their mothers completed questionnaires regarding who is responsible for specific SB medical tasks, family conflict, and medical adherence. An observational measure was also used to assess family conflict. Although children viewed themselves as more responsible for medical management than mothers did, mother-child discrepancies were not associated with family conflict or medical adherence. Interaction effects revealed that adherence was better when family conflict was low and when parents were responsible for medical tasks. Parental involvement in SB medical care is essential for optimal medical adherence during adolescence. The presence of family conflict also plays an influential role on SB medical adherence. Future research should evaluate the relations between discrepancies, family conflict, and medical adherence across time.

Intracranial translucency as a sonographic marker for detecting open spina bifida at 11-13+6 weeks scan: Our experience.

PubMed

Teegala, Madhavi L; Vinayak, Dhamangaonkar G

2017-01-01

The fourth ventricle, seen as intracranial translucency (IT) at 11-13 +6 weeks, has been reported to be obliterated in cases of open spina bifida (OSB). Our aim was to assess its role in detecting OSB at 11-13 +6 weeks. This prospective study was conducted at foetal medicine unit from January 2014 to June 2015. All women who underwent both first and mid-trimester scan in our unit were included in the study. IT was categorized as normal, obliterated or not clear. Spine was examined during both scans. Totally, 341 cases were included in the study. IT was found to be obliterated in four cases and not clear in one case. There was demonstrable OSB at 11-13 +6 weeks in two cases, at 15-16 weeks in two cases and at 24 weeks in one case. In the remaining 336 cases with normal IT, spine was found to be normal at target scan. Mid-sagittal view of face that is routinely used to measure nuchal translucency (NT) can also be used to detect OSB. It is feasible to integrate IT into the routine 11-13 +6 weeks scan.

Discrepancies in Mother and Child Perceptions of Spina Bifida Medical Responsibilities During the Transition to Adolescence: Associations With Family Conflict and Medical Adherence

PubMed Central

Psihogios, Alexandra M.

2013-01-01

Objective This study investigated mother–child discrepancies over perceptions of who is responsible for spina bifida (SB) medical tasks in relation to family conflict and medical adherence. Method 140 youth with SB and their mothers completed questionnaires regarding who is responsible for specific SB medical tasks, family conflict, and medical adherence. An observational measure was also used to assess family conflict. Results Although children viewed themselves as more responsible for medical management than mothers did, mother–child discrepancies were not associated with family conflict or medical adherence. Interaction effects revealed that adherence was better when family conflict was low and when parents were responsible for medical tasks. Conclusions Parental involvement in SB medical care is essential for optimal medical adherence during adolescence. The presence of family conflict also plays an influential role on SB medical adherence. Future research should evaluate the relations between discrepancies, family conflict, and medical adherence across time. PMID:23843631

Observed Macro- and Micro-Level Parenting Behaviors During Preadolescent Family Interactions as Predictors of Adjustment in Emerging Adults With and Without Spina Bifida

PubMed Central

Amaro, Christina M.; Devine, Katie A.; Psihogios, Alexandra M.; Murphy, Lexa K.; Holmbeck, Grayson N.

2015-01-01

Objective To examine observed autonomy-promoting and -inhibiting parenting behaviors during preadolescence as predictors of adjustment outcomes in emerging adults with and without spina bifida (SB). Methods Demographic and videotaped interaction data were collected from families with 8/9-year-old children with SB (n = 68) and a matched group of typically developing youth (n = 68). Observed interaction data were coded with macro- and micro-coding schemes. Measures of emerging adulthood adjustment were collected 10 years later (ages 18/19 years; n = 50 and n = 60 for SB and comparison groups, respectively). Results Autonomy-promoting (behavioral control, autonomy-relatedness) and -inhibiting (psychological control) observed preadolescent parenting behaviors prospectively predicted emerging adulthood adjustment, particularly within educational, social, and emotional domains. Interestingly, high parent undermining of relatedness predicted better educational and social adjustment in the SB sample. Conclusions Parenting behaviors related to autonomy have long-term consequences for adjustment in emerging adults with and without SB. PMID:24864277

Prospective detection of open spina bifida at 11-13 weeks by assessing intracranial translucency and posterior brain.

PubMed

Chaoui, R; Benoit, B; Heling, K S; Kagan, K O; Pietzsch, V; Sarut Lopez, A; Tekesin, I; Karl, K

2011-12-01

We describe a case series of six fetuses with open spina bifida (OSB) from four different prenatal units, where the anomaly was detected at the routine 11-13-week ultrasound examination. Crown-rump length ranged from 49 to 78 mm. All cases were first suspected during nuchal translucency thickness measurement in the mid-sagittal plane of the face. OSB was lumbosacral in five fetuses and cervical in one. The intracranial translucency (IT) was obliterated in two cases, but some fluid was found in the other four cases. However, in all cases the typical landmarks of a normal posterior brain and normal IT were absent. In all six cases the ratio of brainstem diameter to brainstem-occipital bone distance was increased (≥ 1). This detection of an abnormal posterior brain led to a targeted examination and detection of the spinal lesion during the same examination in five cases, whereas in one suspicious case the patient was recalled at 17 weeks, when the abnormality was detected. Two fetuses had both multiple anomalies and trisomy 18. These prospective cases demonstrate the feasibility of using the standard mid-sagittal plane commonly used for NT measurement to assess the IT and the posterior brain and to determine the presence of OSB during NT screening. Copyright © 2011 ISUOG. Published by John Wiley & Sons, Ltd.

Generation of Induced Pluripotent Stem Cells and Neural Stem/Progenitor Cells from Newborns with Spina Bifida Aperta.

PubMed

Bamba, Yohei; Nonaka, Masahiro; Sasaki, Natsu; Shofuda, Tomoko; Kanematsu, Daisuke; Suemizu, Hiroshi; Higuchi, Yuichiro; Pooh, Ritsuko K; Kanemura, Yonehiro; Okano, Hideyuki; Yamasaki, Mami

2017-12-01

We established induced pluripotent stem cells (iPSCs) and neural stem/progenitor cells (NSPCs) from three newborns with spina bifida aperta (SBa) using clinically practical methods. We aimed to develop stem cell lines derived from newborns with SBa for future therapeutic use. SBa is a common congenital spinal cord abnormality that causes defects in neurological and urological functions. Stem cell transplantation therapies are predicted to provide beneficial effects for patients with SBa. However, the availability of appropriate cell sources is inadequate for clinical use because of their limited accessibility and expandability, as well as ethical issues. Fibroblast cultures were established from small fragments of skin obtained from newborns with SBa during SBa repair surgery. The cultured cells were transfected with episomal plasmid vectors encoding reprogramming factors necessary for generating iPSCs. These cells were then differentiated into NSPCs by chemical compound treatment, and NSPCs were expanded using neurosphere technology. We successfully generated iPSC lines from the neonatal dermal fibroblasts of three newborns with SBa. We confirmed that these lines exhibited the characteristics of human pluripotent stem cells. We successfully generated NSPCs from all SBa newborn-derived iPSCs with a combination of neural induction and neurosphere technology. We successfully generated iPSCs and iPSC-NSPCs from surgical samples obtained from newborns with SBa with the goal of future clinical use in patients with SBa.

Inadvertent positioning of suprapubic catheter in urethra: a serious complication during change of suprapubic cystostomy in a spina bifida patient - a case report

PubMed Central

2009-01-01

Introduction Spinal cord injury patients are at risk for developing unusual complications such as autonomic dysreflexia while changing suprapubic cystostomy. We report a male patient with spina bifida in whom the Foley catheter was placed in the urethra during change of suprapubic cystostomy with serious consequences. Case presentation A male patient, born in 1972 with spina bifida and paraplaegia, underwent suprapubic cystostomy in 2003 because of increasing problems with urethral catheter. The patient would come to spinal unit for change of suprapubic catheter every four to six weeks. Two days after a routine catheter change in November 2009, this patient woke up in the morning and noticed that the suprapubic catheter had come out. He went straight to Accident and Emergency. The suprapubic catheter was changed by a health professional and this patient was sent home. But the suprapubic catheter did not drain urine. This patient developed increasing degree of pain and swelling in suprapubic region. He did not pass any urine per urethra. He felt sick and came to spinal unit five hours later. About twenty ml of contrast was injected through suprapubic catheter and X-rays were taken. The suprapubic catheter was patent; the catheter was not blocked. The Foley catheter could be seen going around in a circular manner through the urinary bladder into the urethra. The contrast did not opacify urinary bladder; but proximal urethra was seen. The tip of Foley catheter was lying in proximal urethra. The balloon of Foley catheter had been inflated in urethra. When the balloon of Foley catheter was deflated, this patient developed massive bleeding per urethra. A sterile 22 French Foley catheter was inserted through suprapubic track. The catheter drained bloody urine. He was admitted to spinal unit and received intravenous fluids and meropenem. Haematuria subsided after 48 hours. The patient was discharged home a week later in a stable condition. Conclusion This case shows that

75 FR 13560 - Disease, Disability, and Injury Prevention and Control Special Emphasis Panel (SEP): RFA DD 10...

Federal Register 2010, 2011, 2012, 2013, 2014

2010-03-22

... Research on Spina Bifida, RFA DD 10-003 Public Health Research on Children and Adults Living With Spina... Progression in Young Children With Spina Bifida,and RFA DP 10-006 Epidemiologic Study of Inflammatory Bowel... Health Research on Children and Adults Living with Spina Bifida, RFA DD 10-004 Developing a Prospective...

Youth and young adults with spina bifida: their utilization of physician and hospital services.

PubMed

Young, Nancy L; Anselmo, Lianne A; Burke, Tricia A; McCormick, Anna; Mukherjee, Shubhra

2014-03-01

To describe current patterns of health care utilization of youth and young adults who have spina bifida (SB) and provide evidence to guide the development of health care for this growing population. We conducted a secondary analysis of health services utilization data from the Canadian Institute for Health Information to determine the rates and patterns of health care utilization, because comprehensive health care has been recognized as critical to positive health outcomes. Participants were identified from 6 publicly funded children's treatment centers. Health records from youth (n=164; age range, 13.0-17.9y) and adults (n=120; age range, 23.0-32.9y) with SB contributed to this study. Not applicable. The rates of outpatient physician visits and hospital admissions for the youth and adult groups were calculated. The proportion with a "medical home" was also calculated. The annual rates of outpatient physician visits per 1000 persons were 8031 for youth and 8524 for adults with SB. These rates were approximately 2.9 and 2.2 times higher, respectively, than for their age-matched peers. On average, 12% of youth and 24% of adults with SB had a medical home. The annual rates of hospital admissions per 1000 persons were 329 for youth and 285 for adults with SB. Rates of admissions were 19.4 and 12.4 times higher, respectively, for these groups than for the general population. It appears that persons with SB are accessing health services more often than their age-matched peers, and few have a medical home. We recommend that seamless medical care be provided to all adults with SB, coordinated by a primary care provider, to facilitate comprehensive care. Copyright © 2014 American Congress of Rehabilitation Medicine. Published by Elsevier Inc. All rights reserved.

Agreement between electronic medical records and self-reported urologic domains in the National Spina Bifida Patient Registry (NSBPR): Implications for future research.

PubMed

Halline, Christopher G; Meyer, Theresa; Rosoklija, Ilina; Yerkes, Elizabeth B

2017-08-01

Self-report (SR) is an efficient data collection method. However, SR data have been shown to be discrepant with medical record (MR) documentation, which raises questions about using SR to supplement retrospective chart review in research. In this study, pediatric spina bifida (SB) patients who completed SR interviews about continence status and personal bladder/bowel management were identified. We examined agreement between SR data and Urology provider notes in MRs. This study aimed to (1) identify demographic, medical, or methodological factors that might contribute to SR/MR disagreement; (2) postulate how these findings might be significant clinically; and (3) recommend improvements to SR data collection and MR documentation. Our institution participates in the National Spina Bifida Patient Registry (NSBPR). NSBPR-enrolled subjects typically complete annual interviews about their urologic outcomes; we consider this to be a form of SR. After identifying patients who interviewed within 1 month of an encounter with a urology provider, we systematically reviewed and compared their SR responses to the MR. Overall SR/MR agreement (no. of agreeing data pairs/no. of complete data pairs) and strength of agreement (kappa, κ) were assessed. Agreement about daytime continence status was assessed for children ≥5 years or in younger children who were toilet trained. Analyses were also stratified by diagnosis, type of bladder management, and ethnicity. Eleven urologic domains were analyzed for 176 patients. Overall SR/MR agreement was ≥90% for nine out of 11 domains (figure). Daytime urinary and stool incontinence (DUSI) domains demonstrated the lowest overall agreement, at 69% and 74% respectively. Patients with myelomeningocele (MM) and those on clean intermittent catheterization demonstrated twice as much SR/MR disagreement about DUSI than patients without MM and those who void. There was no significant difference in rates of SR/MR agreement about DUSI when analyzed by

Emotional health and coping in spina bifida after goal management training: a randomized controlled trial.

PubMed

Stubberud, Jan; Langenbahn, Donna; Levine, Brian; Stanghelle, Johan; Schanke, Anne-Kristine

2015-02-01

Executive function impairments are common after spina bifida (SB) and potentially have a detrimental effect on the individual's emotional health and coping. Goal management training (GMT) is a cognitive rehabilitation method for improving executive function. The purpose of this study was to determine the efficacy of GMT on aspects of perceived emotional health and coping in individuals with SB. Thirty-eight adult subjects with SB were included in this randomized controlled trial. Inclusion was based upon the presence of executive functioning complaints. Experimental subjects (n = 24) received 21 hr of GMT, with efficacy of GMT being compared with results of subjects in a wait-list condition (n = 14). Four self-report questionnaires assessing emotional health and coping were utilized as outcome measures. All subjects were assessed at baseline, postintervention, and at 6-month follow-up. Findings indicated positive effects of GMT relative to the control group on measures of emotional health. Of note, the GMT group showed significant improvement, compared with control subjects, on a self-report inventory of depressive and anxiety symptoms after training, lasting at least 6 months posttreatment. Furthermore, both groups showed improvements after training on mental health components of health-related quality of life. Finally, the GMT group showed a significant increase in task-focused coping and a decrease in avoidant coping after training compared with pretreatment baseline assessment scores. Overall, findings indicate that by us a compensatory intervention to manage executive dysfunction, effective and lasting benefits can be achieved with regard to aspects of perceived emotional health and coping. PsycINFO Database Record (c) 2015 APA, all rights reserved.

Risk factors for latex allergy in patients with spina bifida and latex sensitization.

PubMed

Bernardini, R; Novembre, E; Lombardi, E; Mezzetti, P; Cianferoni, A; Danti, D A; Mercurella, A; Vierucci, A

1999-05-01

Some subjects with spina bifida (SB) and latex sensitization (cutaneous and/or serum IgE) can have clinical reactions, while others may have no symptoms after the exposure to latex products. This study was carried out to determine the risk factors associated with latex allergy in patients affected with SB and latex sensitization. Fifty-nine consecutive subjects affected with SB, besides answering a questionnaire, underwent a skin-prick test (SPT) to latex and the determination of the specific serum IgE (RAST CAP) to latex. The total serum IgE concentration was determined and SPT to common aero- and food-allergens, skin tests (prick + prick) with fresh foods (kiwi, pear, orange, pineapple, tomato, banana) and RAST CAP to the same foods tested by the prick + prick technique, were also performed. Fifteen out of the 59 subjects (25%) were sensitized to latex according to the presence of IgE to latex detected by SPT (nine patients) and/or RAST CAP (13 patients). Five out of the 15 sensitized patients (33%) suffered from clinical reactions to latex (urticaria, conjunctivitis, angioedema, rhinitis, bronchial asthma) while they were using latex gloves and while inflating latex balloons. In the 15 sensitized patients, the presence of specific latex seric IgE > 3.5 kU/L (>/= class 3), a positive latex SPT, an elevated total serum IgE, and a positive prick + prick and/or a positive RAST CAP to foods, were significant (P < 0.05) risk factors associated with latex symptoms. The other factors tested (age, gender, months of intermittent bladder catheterization, surgical procedures, SPT reactivity and clinical reactions to aero-allergens and food-allergens, skin tests for fresh foods, positive RAST CAP to foods) were not significantly different in symptomatic and asymptomatic patients. Significant risk factors for symptoms to latex in patients with SB and latex sensitization were a presence of specific IgE to latex > 3.5 kU/L, a more frequent positive latex SPT, elevated total Ig

Intracranial translucency as a sonographic marker for detecting open spina bifida at 11–13+6 weeks scan: Our experience

PubMed Central

Teegala, Madhavi L; Vinayak, Dhamangaonkar G

2017-01-01

Aims and Objectives: The fourth ventricle, seen as intracranial translucency (IT) at 11–13+6 weeks, has been reported to be obliterated in cases of open spina bifida (OSB). Our aim was to assess its role in detecting OSB at 11–13+6 weeks. Materials and Methods: This prospective study was conducted at foetal medicine unit from January 2014 to June 2015. All women who underwent both first and mid-trimester scan in our unit were included in the study. IT was categorized as normal, obliterated or not clear. Spine was examined during both scans. Results: Totally, 341 cases were included in the study. IT was found to be obliterated in four cases and not clear in one case. There was demonstrable OSB at 11–13+6 weeks in two cases, at 15–16 weeks in two cases and at 24 weeks in one case. In the remaining 336 cases with normal IT, spine was found to be normal at target scan. Conclusion: Mid-sagittal view of face that is routinely used to measure nuchal translucency (NT) can also be used to detect OSB. It is feasible to integrate IT into the routine 11–13+6 weeks scan. PMID:29379237

Goal Management Training improves everyday executive functioning for persons with spina bifida: self-and informant reports six months post-training.

PubMed

Stubberud, Jan; Langenbahn, Donna; Levine, Brian; Stanghelle, Johan; Schanke, Anne-Kristine

2014-01-01

Executive dysfunction accounts for significant disability for many patients with spina bifida (SB), thus indicating the need for effective interventions aimed at improving executive functioning in this population. Goal Management Training™ (GMT) is a cognitive rehabilitation approach that targets disorganised behaviour resulting from executive dysfunction, and has received empirical support in studies of other patient groups. The purpose of this study was to determine if GMT would lead to perceived improved executive functioning in the daily lives of patients with SB, as evidenced by reduced report of dysexecutive problems in daily life on self- and informant questionnaires. Thirty-eight adults with SB were included in this randomised controlled trial (RCT). Inclusion was based upon the presence of executive functioning complaints. Experimental subjects (n = 24) received 21 hours of GMT, with efficacy of GMT being compared to results of subjects in a wait-list condition (n = 14). All subjects were assessed at baseline, post-intervention, and at six-month follow-up. Self-report measures indicated that the GMT group's everyday executive functioning improved significantly after training, lasting at least 6 months post-treatment. There were no significant effects on informant-report questionnaires. Overall, these findings indicate that executive difficulties in everyday life can be ameliorated for individuals with congenital brain dysfunction.

38 CFR 21.8012 - Vocational training program for certain children of Vietnam veterans and veterans with covered...

Code of Federal Regulations, 2014 CFR

2014-07-01

... program for certain children of Vietnam veterans and veterans with covered service in Korea-spina bifida... Rehabilitation for Certain Children of Vietnam Veterans and Veterans with Covered Service in Korea-Spina Bifida... Vietnam veterans and veterans with covered service in Korea—spina bifida and covered birth defects. VA...

38 CFR 21.8012 - Vocational training program for certain children of Vietnam veterans and veterans with covered...

Code of Federal Regulations, 2013 CFR

2013-07-01

... program for certain children of Vietnam veterans and veterans with covered service in Korea-spina bifida... Rehabilitation for Certain Children of Vietnam Veterans and Veterans with Covered Service in Korea-Spina Bifida... Vietnam veterans and veterans with covered service in Korea—spina bifida and covered birth defects. VA...

38 CFR 21.8012 - Vocational training program for certain children of Vietnam veterans and veterans with covered...

Code of Federal Regulations, 2012 CFR

2012-07-01

... program for certain children of Vietnam veterans and veterans with covered service in Korea-spina bifida... Rehabilitation for Certain Children of Vietnam Veterans and Veterans with Covered Service in Korea-Spina Bifida... Vietnam veterans and veterans with covered service in Korea—spina bifida and covered birth defects. VA...

38 CFR 21.8012 - Vocational training program for certain children of Vietnam veterans and veterans with covered...

Code of Federal Regulations, 2011 CFR

2011-07-01

... program for certain children of Vietnam veterans and veterans with covered service in Korea-spina bifida... Rehabilitation for Certain Children of Vietnam Veterans and Veterans with Covered Service in Korea-Spina Bifida... Vietnam veterans and veterans with covered service in Korea—spina bifida and covered birth defects. VA...

Patients With Spina Bifida and Their Caregivers' Feelings About Intermittent Bladder Catheterization in Brazil and Germany: A Correlational Study.

PubMed

Faleiros, Fabiana; Cordeiro, Adriana; Favoretto, Naira; Käppler, Christoph; Murray, Christine; Tate, Denise

A major complication for individuals with spina bifida (SB) is managing their neurogenic bladder. For many, this process evokes negative feelings associated with guilt, dependence, and lack of self-worth. The aim of the study was to compare feelings that hinder the performing of intermittent bladder catheterization reported by individuals with SB and their families in two countries of different sociocultural characteristics: Brazil and Germany. Quantitative and comparative study with convenience sampling. The sample comprised 200 SB patients and their caregivers, 100 from Brazil and 100 from Germany. When asked about the existence of negative feelings or ideas that may hinder the performance of key person responsible for IC, 155 (77.5%) participants did not report such feelings. On the other hand, 45 (22.5%) reported emotional difficulties; among these participants, 31 (69%) were Brazilians and 14 (31%) were Germans. Although emotional factors are important to the adjustment of using IC methods for bladder management, the majority of people with SB and their caregivers seem to report no major emotional difficulties with this process. Yet a considerable group of participants did report such emotional difficulties associated with fear and shame. Knowing more about the factors associated with such negative feelings can facilitate interactions, provide mutual aid, and assist with resolution of practical concerns related to intermittent bladder catheterization.

EFFECTIVENESS OF AN UPPER EXTREMITY EXERCISE DEVICE AND TEXT MESSAGE REMINDERS TO EXERCISE IN ADULTS WITH SPINA BIFIDA: A PILOT STUDY

PubMed Central

Crytzer, Theresa M.; Dicianno, Brad E.; Fairman, Andrea D.

2013-01-01

Background Obesity, deconditioning, cognitive impairment, and poor exercise tolerance are health issues concerning adults with spina bifida (SB). Our aim is to describe exercise participation and identify motivating tactics and exercise devices that increase participation. Design In a quasi-experimental randomized crossover design, the GameCycle was compared to a Saratoga Silver I arm ergometer. Personalized free or low cost text/voice message reminders to exercise were sent. Methods Nineteen young adults with SB were assigned to either the GameCycle or Saratoga exercise group. Within each group, participants were randomized to receive reminders to exercise, or no reminders, then crossed over to the opposite message group after eight weeks. Before and after a 16 week exercise program we collected anthropometric, metabolic, exercise testing and questionnaire data, and recorded participation. Results Miles traveled by the GameCycle group were significantly higher than the Saratoga exercise groups. No significant differences were found in participation between the message reminder groups. Low participation rates were seen overall. Conclusions Those using the GameCycle traveled more miles. Barriers to exercise participation may have superseded ability to motivate adults with SB to exercise even with electronic reminders. Support from therapists to combat deconditioning and develop coping skills may be needed. PMID:24620701

Total energy expenditure and body composition of children with developmental disabilities.

PubMed

Polfuss, Michele; Sawin, Kathleen J; Papanek, Paula E; Bandini, Linda; Forseth, Bethany; Moosreiner, Andrea; Zvara, Kimberley; Schoeller, Dale A

2018-07-01

Obesity prevalence is increased in children with developmental disabilities, specifically in children with spina bifida and Down syndrome. Energy expenditure, a critical aspect of weight management, has been extensively studied in the typically developing population, but not adequately studied in children with developmental disabilities. Determine energy expenditure, fat-free mass and body fat percentile and the impact of these findings on recommended caloric intake in children with spina bifida and Down syndrome. This pilot study included 36 children, 18 with spina bifida, 9 with Down syndrome and 9 typically developing children. Half of the children with spina bifida were non-ambulatory. Doubly labeled water was used to measure energy expenditure and body composition. Descriptive statistics described the sample and MANOVA and ANOVA methods were used to evaluate differences between groups. Energy expenditure was significantly less for children with spina bifida who primarily used a wheelchair (p = .001) and children with Down syndrome (p = .041) when compared to children without a disability when adjusted for fat-free mass. However, no significant difference was detected in children with spina bifida who ambulated without assistance (p = .072). Children with spina bifida and Down syndrome have a significantly decreased energy expenditure which directly impacts recommended caloric intake. No significant difference was detected for children with spina bifida who ambulated, although the small sample size of this pilot study may have limited these findings. Validating these results in a larger study is integral to supporting successful weight management of these children. Copyright © 2017 Elsevier Inc. All rights reserved.

Predominant bacteria and patterns of antibiotic susceptibility in urinary tract infection in children with spina bifida.

PubMed

Ortiz, Tara K; Velazquez, Nermarie; Ding, Laura; Routh, Jonathan C; Wiener, John S; Seed, Patrick C; Ross, Sherry S

2018-04-20

Urinary tract infection is more common in children with spina bifida (SB) than neurologically intact children, and Escherichiacoli is the most common urinary pathogen in the general pediatric population. Less is known of the pathogens responsible for urinary tract infections (UTI) in the pediatric SB population or their evolving antimicrobial resistance patterns. The goal of this study is to determine the epidemiology and antimicrobial resistance patterns of SB-associated urinary pathogens. Between January 1996 and August 2013, 231 patients aged 1 month to 18 years were identified with a diagnosis of SB-NB and at least one symptomatic urinary tract infection (UTI) event (Table). Two-hundred and thirty-one normally voiding children with a single symptomatic UTI were age-matched based on age at diagnosis of UTI at a 1:1 ratio. Chi-square tests and Generalized Estimating Equation analysis, controlling for clinicopathological factors, were performed to compare rates of pathogen-associations with UTI between groups and likelihood of UTI with multi-drug resistant (MDR) organisms. Children in the SB-NB group had a higher rate of non-E. coli UTI compared with controls (64% vs. 41%, p < 0.01), particularly associated with Klebsiella species the SB-NB group had an overall higher infection rate with MDR organisms (21% vs. 10%, p < 0.01) and E. coli isolates, with a trend towards increased rates of antibiotic resistance to aminoglycosides, fluoroquinolones, cephalosporins, extended spectrum β-lactams, and TMP-SMZ. Additionally, patients in the SB-NB group had a 10-fold increase of urosepsis with 57% of events caused by MDR organisms. Children with SB-NB are more likely to have non-E. coli UTI, UTIs with MDR organisms, and urosepsis than the general pediatric population. Published by Elsevier Ltd.

Brain stem/brain stem occipital bone ratio and the four-line view in nuchal translucency images of fetuses with open spina bifida.

PubMed

Iuculano, Ambra; Zoppi, Maria Angelica; Piras, Alessandra; Arras, Maurizio; Monni, Giovanni

2014-09-10

Abstract Objective: Brain stem depth/brain stem occipital bone distance (BS/BSOB ratio) and the four-line view, in images obtained for nuchal translucency (NT) screening in fetuses with open spina bifida (OSB). Methods: Single center, retrospective study based on the assessment of NT screening images of fetuses with OSB. A ratio between the BS depth and the BSOB distance was calculated (BS/BSOB ratio) and the four-line view observed, and the sensitivity for a BS/BSOB ratio superior/equal to 1, and for the lack of detection of the four-line view were calculated. Results: There were 17 cases of prenatal diagnosis OSB. In six cases, the suspicion on OSB was raised during NT screening, in six cases, the diagnosis was made before 20 weeks and in five cases during anomaly scan. The BS/BSOB ratio was superior/equal to 1 in all 17 cases, and three lines, were visualized in 15/17 images of the OSB cases, being the sensitivity 100% (95% CI, 81 to 100%) and 88% (95% CI, 65 to 96%). Conclusion: Assessment of BS/BSOB ratio and four-line view in NT images is feasible detecting affected by OSB with high sensitivity. The presence of associated anomalies or of an enlarged NT enhances the early detection.

Functional Significance of Atypical Cortical Organization in Spina Bifida Myelomeningocele: Relations of Cortical Thickness and Gyrification with IQ and Fine Motor Dexterity

PubMed Central

Treble, Amery; Juranek, Jenifer; Stuebing, Karla K.; Dennis, Maureen; Fletcher, Jack M.

2013-01-01

The cortex in spina bifida myelomeningocele (SBM) is atypically organized, but it is not known how specific features of atypical cortical organization promote or disrupt cognitive and motor function. Relations of deviant cortical thickness and gyrification with IQ and fine motor dexterity were investigated in 64 individuals with SBM and 26 typically developing (TD) individuals, aged 8–28 years. Cortical thickness and 3D local gyrification index (LGI) were quantified from 33 cortical regions per hemisphere using FreeSurfer. Results replicated previous findings, showing regions of higher and lower cortical thickness and LGI in SBM relative to the TD comparison individuals. Cortical thickness and LGI were negatively associated in most cortical regions, though less consistently in the TD group. Whereas cortical thickness and LGI tended to be negatively associated with IQ and fine motor outcomes in regions that were thicker or more gyrified in SBM, associations tended to be positive in regions that were thinner or less gyrified in SBM. The more deviant the levels of cortical thickness and LGI—whether higher or lower relative to the TD group—the more impaired the IQ and fine motor outcomes, suggesting that these cortical atypicalities in SBM are functionally maladaptive, rather than adaptive. PMID:22875857

Plasticity of Interhemispheric Temporal Lobe White Matter Pathways Due to Early Disruption of Corpus Callosum Development in Spina Bifida

PubMed Central

Juranek, Jenifer; Romanowska-Pawliczek, Anna; Hannay, H. Julia; Cirino, Paul T.; Dennis, Maureen; Kramer, Larry A.; Fletcher, Jack M.

2016-01-01

Abstract Spina bifida myelomeningocele (SBM) is commonly associated with anomalous development of the corpus callosum (CC) because of congenital partial hypogenesis and hydrocephalus-related hypoplasia. It represents a model disorder to examine the effects of early disruption of CC neurodevelopment and the plasticity of interhemispheric white matter connections. Diffusion tensor imaging was acquired on 76 individuals with SBM and 27 typically developing individuals, aged 8–36 years. Probabilistic tractography was used to isolate the interhemispheric connections between the posterior superior temporal lobes, which typically traverse the posterior third of the CC. Early disruption of CC development resulted in restructuring of interhemispheric connections through alternate commissures, particularly the anterior commissure (AC). These rerouted fibers were present in people with SBM and both CC hypoplasia and hypogenesis. In addition, microstructural integrity was reduced in the interhemispheric temporal tract in people with SBM, indexed by lower fractional anisotropy, axial diffusivity, and higher radial diffusivity. Interhemispheric temporal tract volume was positively correlated with total volume of the CC, such that more severe underdevelopment of the CC was associated with fewer connections between the posterior temporal lobes. Therefore, both the macrostructure and microstructure of this interhemispheric tract were reduced, presumably as a result of more extensive CC malformation. The current findings suggest that early disruption in CC development reroutes interhemispheric temporal fibers through both the AC and more anterior sections of the CC in support of persistent hypotheses that the AC may serve a compensatory function in atypical CC development. PMID:26798959

Copy number variation analysis implicates the cell polarity gene glypican 5 as a human spina bifida candidate gene

PubMed Central

Bassuk, Alexander G.; Muthuswamy, Lakshmi B.; Boland, Riley; Smith, Tiffany L.; Hulstrand, Alissa M.; Northrup, Hope; Hakeman, Matthew; Dierdorff, Jason M.; Yung, Christina K.; Long, Abby; Brouillette, Rachel B.; Au, Kit Sing; Gurnett, Christina; Houston, Douglas W.; Cornell, Robert A.; Manak, J. Robert

2013-01-01

Neural tube defects (NTDs) are common birth defects of complex etiology. Family and population-based studies have confirmed a genetic component to NTDs. However, despite more than three decades of research, the genes involved in human NTDs remain largely unknown. We tested the hypothesis that rare copy number variants (CNVs), especially de novo germline CNVs, are a significant risk factor for NTDs. We used array-based comparative genomic hybridization (aCGH) to identify rare CNVs in 128 Caucasian and 61 Hispanic patients with non-syndromic lumbar-sacral myelomeningocele. We also performed aCGH analysis on the parents of affected individuals with rare CNVs where parental DNA was available (42 sets). Among the eight de novo CNVs that we identified, three generated copy number changes of entire genes. One large heterozygous deletion removed 27 genes, including PAX3, a known spina bifida-associated gene. A second CNV altered genes (PGPD8, ZC3H6) for which little is known regarding function or expression. A third heterozygous deletion removed GPC5 and part of GPC6, genes encoding glypicans. Glypicans are proteoglycans that modulate the activity of morphogens such as Sonic Hedgehog (SHH) and bone morphogenetic proteins (BMPs), both of which have been implicated in NTDs. Additionally, glypicans function in the planar cell polarity (PCP) pathway, and several PCP genes have been associated with NTDs. Here, we show that GPC5 orthologs are expressed in the neural tube, and that inhibiting their expression in frog and fish embryos results in NTDs. These results implicate GPC5 as a gene required for normal neural tube development. PMID:23223018

38 CFR 21.8020 - Entitlement to vocational training and employment assistance.

Code of Federal Regulations, 2010 CFR

2010-07-01

... Rehabilitation for Certain Children of Vietnam Veterans-Spina Bifida and Covered Birth Defects Basic Entitlement... individual's spina bifida and/or other covered birth defect(s) which are so severe as to necessitate...

A prospective study on fetal posterior cranial fossa assessment for early detection of open spina bifida at 11-13 weeks.

PubMed

Kose, Semir; Altunyurt, Sabahattin; Keskinoglu, Pembe

2018-01-01

The objective of this study was to test three measurements: brain stem (BS), intracranial translucency (IT) and brain stem to occipital bone distance (BSOB), as well as one landmark: cisterna magna (CM) visibility, for early diagnosis of open spina bifida (OSB) in a low risk population. A prospective observational study was undertaken in a university hospital. A sample of 1479 women consented to participate between 20 September 2013 and 30 June 2015. Measurements were performed from the mid-sagittal view, as is routinely used for nuchal thickness assessment. CM visibility was assessed qualitatively as the third anechoic band in the posterior cranial fossa (PCF). All pregnancies were screened with a combination of maternal serum alpha-fetoprotein and second trimester anomaly scan and followed until delivery. Predictive values were calculated for each marker. We were able to diagnose two OSB cases and highly suspect one Dandy-Walker malformation case at the first trimester scan by the observation of PCF. PCF characteristics of OSB cases were increased BS diameter, increased BS-BSOB ratio and non-visualization of the CM. All the markers demonstrated high sensitivity and specificity but CM visibility reached the highest positive predictive value. Due to relatively high false positive rates, PCF measurements could not reach a satisfactory performance to validate their clinical use as a single marker. CM visibility has the advantage of being a qualitative marker and reduces the need for sophisticated and time-consuming measurements. Intracranial translucency and BS-BSOB ratio measurements should be used when the CM visibility is absent or in doubt. © 2017 Japanese Teratology Society.

Spinal dysraphism

PubMed Central

Venkataramana, N. K.

2011-01-01

To review the clinical features and current understanding of spina bifida with an emphasis on the Indian Scenario. Selected articles and current English language texts were reviewed. The authors experience was also reviewed and analysed. Spina bifida is a common congenital anomaly encompassing a wide spectrum of neural tube defects.It is broadly classified as spina bifida aperta and occulta. With the prenatal screening, the incidence of aperta is gradually declining, whereas the detection of occulta has increased with the advent of magnetic resonance imaging. Over the years, the understanding of pathophysiology has made a significant changein the management of these anomalies. Early detection and complete correction can significantly reduce the neurological disability. This article is an overview of spina bifida with a special emphasis on Indian scenario. PMID:22069428

Paraoxonase 1 polymorphisms and haplotypes and the risk for having offspring affected with spina bifida in Southeast Mexico.

PubMed

Gonzalez-Herrera, Lizbeth; Martín Cerda-Flores, Ricardo; Luna-Rivero, Marianne; Canto-Herrera, Jorge; Pinto-Escalante, Doris; Perez-Herrera, Norma; Quintanilla-Vega, Betzabet

2010-11-01

Spina bifida (SB) is a common congenital malformation in Southeast Mexico. Parents of children with SB reside in areas with frequent pesticide spraying or have agriculture activities, suggesting potential exposure to pesticides. Paraoxonase 1 (PON1) is the responsible enzyme for deactivation of organophosphates (OP) in the central nervous system. Polymorphisms of PON1 genes influence the catalytic activity and plasma protein level of the enzyme, therefore, genotypic characterization of PON1 gene represents a potential predictor for susceptibility to OP-related effects. The frequency of PON1 haplotypes and polymorphisms (-108CT, L55M, and Q192R) were determined in this study. A case-control study was performed to evaluate the risk for having offspring affected by SB in 152 cases and 160 control parents. Polymorphisms were determined by PCR amplification and restriction fragment length polymorphism and Real Time-PCR. Odds ratios and confidence interval 95% were estimated. Genotype frequencies for the three PON1 polymorphisms were distributed according to Hardy-Weinberg expectations (p > 0.05) and were significantly different between cases and controls (p < 0.05). The heterozygous CT genotype of -108CT polymorphism, the RR genotype of Q192R polymorphism, both LM and MM genotypes of L55M polymorphism, and the haplotypes 221 and 222 (for -108CT, L55M, and Q192R) were associated with the risk for having a child affected by SB (p < 0.02). The heterozygous -108CT genotype was associated only maternally, whereas the heterozygous L55M genotype was relevant only in the fathers. The RR homozygous genotype was relevant both in mothers and fathers, suggesting the importance of this substrate-specific polymorphism. Results suggest that PON1 polymorphisms are relevant risk factors for having offspring affected with SB in this population from Southeast Mexico. © 2010 Wiley-Liss, Inc.

38 CFR 21.8010 - Definitions and abbreviations.

Code of Federal Regulations, 2010 CFR

2010-07-01

... Children of Vietnam Veterans-Spina Bifida and Covered Birth Defects General § 21.8010 Definitions and....814(c)(3) of this title. Vietnam veteran means, in the case of a child suffering from spina bifida...

Communicating about obesity and weight-related topics with children with a physical disability and their families: spina bifida as an example.

PubMed

McPherson, Amy C; Swift, Judy A; Peters, Michelle; Lyons, Julia; Joy Knibbe, Tara; Church, Paige; Chen, Lorry; Farrell, Renée M; Willem Gorter, Jan

2017-04-01

The purpose of this study was to explore the experiences of children with spina bifida (SB), their families and healthcare professionals (HCPs) when discussing weight-related topics. In-depth qualitative interviews were conducted with HCPs from Canadian outpatient SB clinics (n = 13), children aged 6-18 years with SB (n = 17) and their parents (n = 20). Data were analyzed using a phenomenological approach within an interpretative paradigm. Many HCPs were not confident talking about weight, concerned that they would damage relationships with children and families. Parents wanted routine weight surveillance, but were worried about their children's self-esteem if their weight was discussed. They wanted HCPs to acknowledge the challenges of weight management in children with a physical disability and provide specialized solutions. Children wanted a positively framed and tailored approach to weight discussions, although this had generally not been their experience. Stakeholders describe therapeutic relationships that are currently disconnected around the issue of weight and obesity. However, children, parents and HCPs all believed that discussing this topic was critical. Positively framed, strengths-based and tailored approaches to weight-related discussions are warranted. Implications for Rehabilitation Rates of overweight and obesity in children and youth with physical disabilities are substantially higher than their typically developing peers. Healthcare professionals, children with physical disabilities and families often find weight-related discussions challenging and disconnected. Weight-related discussions should be tailored to the child and family's circumstances and priorities. Positively framed and strengths-based approaches to weight-related discussions are warranted.

Exercise Prescription Using a Group-Normalized Rating of Perceived Exertion in Adolescents and Adults With Spina Bifida.

PubMed

Crytzer, Theresa M; Keramati, Mariam; Anthony, Steven J; Cheng, Yu-Ting; Robertson, Robert J; Dicianno, Brad E

2018-02-03

People with spina bifida (SB) face personal and environmental barriers to exercise that contribute to physical inactivity, obesity, risk of cardiovascular disease, and poor aerobic fitness. The WHEEL rating of perceived exertion (RPE) Scale was validated in people with SB to monitor exercise intensity. However, the psycho-physiological link between RPE and ventilatory breakpoint (Vpt), the group-normalized perceptual response, has not been determined and would provide a starting point for aerobic exercise in this cohort. The primary objectives were to determine the group-normalized RPE equivalent to Vpt based on WHEEL and Borg Scale ratings and to develop a regression model to predict Borg Scale (conditional metric) from WHEEL Scale (criterion metric). The secondary objective was to create a table of interchangeable values between WHEEL and Borg Scale RPE for people with SB performing a load incremental stress test. Cross-sectional observational. University laboratory. Twenty-nine participants with SB. Participants completed a load incremented arm ergometer exercise stress test. WHEEL and Borg Scale ratings were recorded the last 15 seconds of each 1-minute test phase. WHEEL and Borg Scale ratings, metabolic measures (eg, oxygen consumption, carbon dioxide production). Determined Vpt via plots of oxygen consumption and carbon dioxide production against time. Nineteen of 29 participants achieved Vpt (Group A). The mean ± standard deviation peak oxygen consumption at Vpt for Group A was 61.76 ± 16.26. The WHEEL and Borg Scale RPE at Vpt were 5.74 ± 2.58 (range 0-10) and 13.95 ± 3.50 (range 6-19), respectively. A significant linear regression model was developed (Borg Scale rating = 1.22 × WHEEL Scale rating + 7.14) and used to create a WHEEL-to-Borg Scale RPE conversion table. A significant linear regression model and table of interchangeable values was developed for participants with SB. The group-normalized RPE (WHEEL, 5.74; Borg, 13.95) can be used to

Central Somatosensory Networks Respond to a De Novo Innervated Penis: A Proof of Concept in Three Spina Bifida Patients.

PubMed

Kortekaas, Rudie; Nanetti, Luca; Overgoor, Max L E; de Jong, Bauke M; Georgiadis, Janniko R

2015-09-01

Spina bifida (SB) causes low spinal lesions, and patients often have absent genital sensation and a highly impaired sex life. TOMAX (TO MAX-imize sensation, sexuality and quality of life) is a surgical procedure whereby the penis is newly innervated using a sensory nerve originally targeting the inguinal area. Most TOMAX-treated SB patients initially experience penile stimulation as inguinal sensation, but eventually, the perception shifts to penis sensation with erotic feelings. The brain mechanisms mediating this perceptual shift, which are completely unknown, could hold relevance for understanding the brain's role in sexual development. The aim of this study was to study how a newly perceived penis would be mapped onto the brain after a lifelong disconnection. Three TOMAX-treated SB patients participated in a functional magnetic resonance imagery experiment while glans penis, inguinal area, and index finger were stimulated with a paint brush. Brush stimulation-induced activation of the primary somatosensory cortex (SI) and functional connectivity between SI and remote cerebral regions. Stimulation of the re-innervated side of the glans penis and the intact contralateral inguinal area activated a very similar location on SI. Yet, connectivity analysis identified distinct SI functional networks. In all three subjects, the middle cingulate cortex (MCC) and the parietal operculum-insular cortex (OIC) were functionally connected to SI activity during glans penis stimulation, but not to SI activity induced by inguinal stimulation. Investigating central somatosensory network activity to a de novo innervated penis in SB patients is feasible and informative. The consistent involvement of MCC and OIC above and beyond the brain network expected on the basis of inguinal stimulation suggests that these areas mediate the novel penis sensation in these patients. The potential role of MCC and OIC in this process is discussed, along with recommendations for further research. �

Systematic review and practice policy statements on urinary tract infection prevention in adults with spina bifida

PubMed Central

Tradewell, Michael; Pariser, Joseph J.; Nimeh, Tony

2018-01-01

Urinary tract infection (UTI) is a source of morbidity and healthcare costs in adults with spina bifida (ASB). UTI prevention strategies are often recommended, but the evidence of various approaches remains unclear. We performed a systematic review to inform a best practice policy statement for UTI prevention in ASB. On behalf of the Neurogenic Bladder Research Group (NBRG.org), we developed an a priori protocol and searched the published English literature for 30 outcomes questions addressing UTI prevention in ASB. The questions spanned the categories of antibiotics, oral supplements, bladder management factors and social support. Where there was little literature in ASB, we included literature from similar populations with neurogenic bladder (NB). Data was abstracted and then reviewed with recommendations made by consensus of all authors. Level of Evidence (LoE) and Grade of Recommendation (GoR) were according to the Oxford grading system. Of 6,433 articles identified by our search, we included 99 publications. There was sufficient evidence to support use of the following: saline bladder irrigation (LoE 1, GoR B), gentamicin bladder instillation (LoE 3, GoR C), single-use intermittent catheterization (IC) (LoE 2, GoR B), hydrophilic catheters for IC (LoE 2, GoR C), intradetrusor onabotulinumtoxinA injection (LoE 3, GoR C), hyaluronic acid (HA) instillation (LoE 1, GoR B), and care coordination (LoE 3, GoR C). There was sufficient evidence to recommend against use of the following: sterile IC (LoE 1, GoR B), oral antibiotic prophylaxis (LoE 2, GoR B), treatment of asymptomatic bacteriuria (LoE 2, GoR B), cranberry (LoE 2, GoR B), methenamine salts (LoE 1, GoR B), and ascorbic acid (LoE1, GoR B). There was insufficient evidence to make a recommendation for other outcomes. Overall, there are few studies in UTI prevention in the specific population of ASB. Research in populations similar to ASB helps to guide recommendations for UTI prevention in the challenging

38 CFR 17.900 - Definitions.

Code of Federal Regulations, 2010 CFR

2010-07-01

... Benefits for Certain Children of Vietnam Veterans-Spina Bifida and Covered Birth Defects § 17.900... scope of the approval, license, or certificate. Child for purposes of spina bifida means the same as... child's family or household in the care of the child; and the provision of such pharmaceuticals...

Neurocognitive Predictors of Mathematical Processing in School-Aged Children with Spina Bifida and Their Typically Developing Peers: Attention, Working Memory, and Fine Motor Skills

PubMed Central

Raghubar, Kimberly P.; Barnes, Marcia A.; Dennis, Maureen; Cirino, Paul T.; Taylor, Heather; Landry, Susan

2015-01-01

Objective Math and attention are related in neurobiological and behavioral models of mathematical cognition. This study employed model-driven assessments of attention and math in children with spina bifida myelomeningocele (SBM), who have known math difficulties and specific attentional deficits, to more directly examine putative relations between attention and mathematical processing. The relation of other domain general abilities and math was also investigated. Method Participants were 9.5-year-old children with SBM (N = 44) and typically developing children (N = 50). Participants were administered experimental exact and approximate arithmetic tasks, and standardized measures of math fluency and calculation. Cognitive measures included the Attention Network Test (ANT), and standardized measures of fine motor skills, verbal working memory (WM), and visual-spatial WM. Results Children with SBM performed similarly to peers on exact arithmetic but more poorly on approximate and standardized arithmetic measures. On the ANT, children with SBM differed from controls on orienting attention but not alerting and executive attention. Multiple mediation models showed that: fine motor skills and verbal WM mediated the relation of group to approximate arithmetic; fine motor skills and visual-spatial WM mediated the relation of group to math fluency; and verbal and visual-spatial WM mediated the relation of group to math calculation. Attention was not a significant mediator of the effects of group for any aspect of math in this study. Conclusions Results are discussed with reference to models of attention, WM, and mathematical cognition. PMID:26011113

Neurocognitive predictors of mathematical processing in school-aged children with spina bifida and their typically developing peers: Attention, working memory, and fine motor skills.

PubMed

Raghubar, Kimberly P; Barnes, Marcia A; Dennis, Maureen; Cirino, Paul T; Taylor, Heather; Landry, Susan

2015-11-01

Math and attention are related in neurobiological and behavioral models of mathematical cognition. This study employed model-driven assessments of attention and math in children with spina bifida myelomeningocele (SBM), who have known math difficulties and specific attentional deficits, to more directly examine putative relations between attention and mathematical processing. The relation of other domain general abilities and math was also investigated. Participants were 9.5-year-old children with SBM (n = 44) and typically developing children (n = 50). Participants were administered experimental exact and approximate arithmetic tasks, and standardized measures of math fluency and calculation. Cognitive measures included the Attention Network Test (ANT), and standardized measures of fine motor skills, verbal working memory (WM), and visual-spatial WM. Children with SBM performed similarly to peers on exact arithmetic, but more poorly on approximate and standardized arithmetic measures. On the ANT, children with SBM differed from controls on orienting attention, but not on alerting and executive attention. Multiple mediation models showed that fine motor skills and verbal WM mediated the relation of group to approximate arithmetic; fine motor skills and visual-spatial WM mediated the relation of group to math fluency; and verbal and visual-spatial WM mediated the relation of group to math calculation. Attention was not a significant mediator of the effects of group for any aspect of math in this study. Results are discussed with reference to models of attention, WM, and mathematical cognition. (c) 2015 APA, all rights reserved).

38 CFR 17.901 - Provision of health care.

Code of Federal Regulations, 2012 CFR

2012-07-01

... 38 Pensions, Bonuses, and Veterans' Relief 1 2012-07-01 2012-07-01 false Provision of health care... Health Care Benefits for Certain Children of Vietnam Veterans and Veterans with Covered Service in Korea-Spina Bifida and Covered Birth Defects § 17.901 Provision of health care. (a) Spina bifida. VA will...

38 CFR 17.901 - Provision of health care.

Code of Federal Regulations, 2014 CFR

2014-07-01

... 38 Pensions, Bonuses, and Veterans' Relief 1 2014-07-01 2014-07-01 false Provision of health care... Health Care Benefits for Certain Children of Vietnam Veterans and Veterans with Covered Service in Korea-Spina Bifida and Covered Birth Defects § 17.901 Provision of health care. (a) Spina bifida. VA will...

38 CFR 17.901 - Provision of health care.

Code of Federal Regulations, 2013 CFR

2013-07-01

... 38 Pensions, Bonuses, and Veterans' Relief 1 2013-07-01 2013-07-01 false Provision of health care... Health Care Benefits for Certain Children of Vietnam Veterans and Veterans with Covered Service in Korea-Spina Bifida and Covered Birth Defects § 17.901 Provision of health care. (a) Spina bifida. VA will...

38 CFR 17.901 - Provision of health care.

Code of Federal Regulations, 2011 CFR

2011-07-01

... 38 Pensions, Bonuses, and Veterans' Relief 1 2011-07-01 2011-07-01 false Provision of health care... Health Care Benefits for Certain Children of Vietnam Veterans and Veterans with Covered Service in Korea-Spina Bifida and Covered Birth Defects § 17.901 Provision of health care. (a) Spina bifida. VA will...

38 CFR 17.901 - Provision of health care.

Code of Federal Regulations, 2010 CFR

2010-07-01

... 38 Pensions, Bonuses, and Veterans' Relief 1 2010-07-01 2010-07-01 false Provision of health care... Health Care Benefits for Certain Children of Vietnam Veterans-Spina Bifida and Covered Birth Defects § 17.901 Provision of health care. (a) Spina bifida. VA will provide a Vietnam veteran's child who has been...

Brief Report: An Online Support Intervention--Perceptions of Adolescents with Physical Disabilities

ERIC Educational Resources Information Center

Stewart, Miriam; Barnfather, Alison; Magill-Evans, Joyce; Ray, Lynne; Letourneau, Nicole

2011-01-01

Adolescents with cerebral palsy and spina bifida report restricted interactions with peers and gaps in social support. A pilot online support intervention offered interactions with peers. Five mentors with cerebral palsy or spina bifida and 22 adolescents with the same disabilities met weekly online for 25 group sessions over six months.…

Subsequent Births in Families of Children with Disabilities: Using Demographic Data to Examine Parents' Reproductive Patterns

ERIC Educational Resources Information Center

Burke, Meghan M.; Urbano, Richard C.; Hodapp, Robert M.

2011-01-01

The authors determined family reproductive patterns after the birth of a child with (vs. without) a disability. Using Tennessee birth records, the authors examined families of children with Down syndrome (N = 1,123), spina bifida (N = 368), and population group (N = 734,189). Families of children with Down syndrome and with spina bifida were more…

[Ultrasound measurement of fetal posterior fossa at 11 to 13⁺⁶ gestational weeks for screening open spina bifida].

PubMed

Qin, Feng-Zhen; Li, Sheng-Li; Wen, Hua-Xuan; Ouyang, Yu-Rong; Zheng, Qiong; Bi, Jing-Ru

2014-06-01

To establish the normal reference ranges of transabdominal ultrasound measurements of the posterior fossa structure in fetuses at 11 to 13⁺⁶ gestational weeks and explore their clinical value in screening open spina bifida (OSB). Between January, 2013 and September, 541 randomly selected normal fetuses underwent nuchal translucency at the gestational age 11 to 13⁺⁶ weeks. The parameters of the posterior fossa were measured in mid-sagittal view of the fetal face and the axial view of the transverse cerebellum insonated through the anterior fontanel by transabdominal ultrasound to establish the normal reference ranges. The measurements were obtained from 3 fetuses with OSB for comparison with the reference ranges. In normal fetuses, the parameters of the posterior fossa measured in the two views showed no significant differences (P>0.05). Two high echogenic lines were observed in normal fetuses, as compared with one in fetuses with OSB representing the posterior border of the brain stem and the anterior border of the fourth ventricle. The line between the posterior border of the fourth ventricle and the anterior border of the cisterna magna was not displayed in fetuses with OSB. The anteroposterior diameters of the brain stem, the fourth ventricle, and cisterna magna all increased in positive correlation with the crown-lump length in normal fetuses. In the 3 OSB fetuses, the anteroposterior diameter of the brain stem exceeded the 95th percentile and the anteroposterior diameter of fourth ventrical-cisterner magena was below the 5th percentile of the reference range for CRL; the brain stem to fourth ventrical-cisterner magena anteroposterior diameter ratio was increased to above 1. The established normal reference ranges of the parameters of fetal posterior fossa may provide assistance in early OSB detection. The absence of the posterior border of the fourth ventricle and the anterior border of the cisterna magna and a brainstem to fourth ventrical

38 CFR 21.8010 - Definitions and abbreviations.

Code of Federal Regulations, 2011 CFR

2011-07-01

...) of this title who suffers from spina bifida, or an individual as defined at § 3.815(c)(2) of this... assistance means employment counseling, placement and post-placement services, and personal and work... the case of a child suffering from spina bifida, the same as defined at § 3.814(c)(1) or § 3.815(c)(1...

An Epidemiologic Investigation of Health Effects in Air Force Personnel Following Exposure to Herbicides. Extract Reproductive Outcomes Executive Summary introduction and Conclusions.

DTIC Science & Technology

1992-08-31

Birth Defects and Developmental Anomalies Twelve specific birth defects (anencephaly, spina bifida, hydrocephalus, cleft palate , cleft lip / palate ...Selected Birth Defects Twelve birth defects (anencephaly, spina bifida, hydrocephalus, cleft palate , cleft lip / palate , esophageal atresia, anorectal... cleft palate after coadministration of retinoic acid and TCDD. Toxicology and Applied Pharmacology 99(2):287-301 25. Roberts, E. A., Vella, L. M., Golas

Neural tube defects in Waardenburg syndrome: A case report and review of the literature.

PubMed

Hart, Joseph; Miriyala, Kalpana

2017-09-01

Waardenburg syndrome type 1 (WS1) is an autosomal dominant genetic condition characterized by sensorineural deafness and pigment abnormalities, and is caused by variants in the PAX3 homeodomain. PAX3 variants have been associated with severe neural tube defects in mice and humans, but the frequency and clinical manifestations of this symptom remain largely unexplored in humans. Consequently, the role of PAX3 in human neural tube formation remains a study of interest, for clinical as well as research purposes. Though the association between spina bifida and WS1 is now well-documented, no study has attempted to characterize the range of spina bifida phenotypes seen in WS. Spina bifida encompasses several diagnoses with a wide scope of clinical severity, ranging from spina bifida occulta to myelomeningocele. We present a patient with Waardenburg syndrome type 1 caused by a novel missense variant in PAX3, presenting with myelomeningocele, Arnold-Chiari malformation, and hydrocephalus at birth. Additionally, we review 32 total cases of neural tube defects associated with WS. Including this report, there have been 15 published cases of myelomeningocele, 10 cases of unspecified spina bifida, 3 cases of sacral dimples, 0 cases of meningocele, and 4 cases of miscellaneous other neural tube defects. Though the true frequency of each phenotype cannot be determined from this collection of cases, these results demonstrate that Waardenburg syndrome type 1 carries a notable risk of severe neural tube defects, which has implications in prenatal and genetic counseling. © 2017 Wiley Periodicals, Inc.

Retrospective Assessment of Cost Savings From Prevention

PubMed Central

Grosse, Scott D.; Berry, Robert J.; Tilford, J. Mick; Kucik, James E.; Waitzman, Norman J.

2016-01-01

Introduction Although fortification of food with folic acid has been calculated to be cost saving in the U.S., updated estimates are needed. This analysis calculates new estimates from the societal perspective of net cost savings per year associated with mandatory folic acid fortification of enriched cereal grain products in the U.S. that was implemented during 1997–1998. Methods Estimates of annual numbers of live-born spina bifida cases in 1995–1996 relative to 1999–2011 based on birth defects surveillance data were combined during 2015 with published estimates of the present value of lifetime direct costs updated in 2014 U.S. dollars for a live-born infant with spina bifida to estimate avoided direct costs and net cost savings. Results The fortification mandate is estimated to have reduced the annual number of U.S. live-born spina bifida cases by 767, with a lower-bound estimate of 614. The present value of mean direct lifetime cost per infant with spina bifida is estimated to be $791,900, or $577,000 excluding caregiving costs. Using a best estimate of numbers of avoided live-born spina bifida cases, fortification is estimated to reduce the present value of total direct costs for each year's birth cohort by $603 million more than the cost of fortification. A lower-bound estimate of cost savings using conservative assumptions, including the upper-bound estimate of fortification cost, is $299 million. Conclusions The estimates of cost savings are larger than previously reported, even using conservative assumptions. The analysis can also inform assessments of folic acid fortification in other countries. PMID:26790341

Application of the automated spatial surveillance program to birth defects surveillance data.

PubMed

Gardner, Bennett R; Strickland, Matthew J; Correa, Adolfo

2007-07-01

Although many birth defects surveillance programs incorporate georeferenced records into their databases, practical methods for routine spatial surveillance are lacking. We present a macroprogram written for the software package R designed for routine exploratory spatial analysis of birth defects data, the Automated Spatial Surveillance Program (ASSP), and present an application of this program using spina bifida prevalence data for metropolitan Atlanta. Birth defects surveillance data were collected by the Metropolitan Atlanta Congenital Defects Program. We generated ASSP maps for two groups of years that correspond roughly to the periods before (1994-1998) and after (1999-2002) folic acid fortification of flour. ASSP maps display census tract-specific spina bifida prevalence, smoothed prevalence contours, and locations of statistically elevated prevalence. We used these maps to identify areas of elevated prevalence for spina bifida. We identified a large area of potential concern in the years following fortification of grains and cereals with folic acid. This area overlapped census tracts containing large numbers of Hispanic residents. The potential utility of ASSP for spatial disease monitoring was demonstrated by the identification of areas of high prevalence of spina bifida and may warrant further study and monitoring. We intend to further develop ASSP so that it becomes practical for routine spatial monitoring of birth defects. (c) 2007 Wiley-Liss, Inc.

Spina Bifida

MedlinePlus

... of myelomeningocele through a National Institutes of Health experimental protocol (Management of Myelomeningocele Study, or MOMS). Fetal ... additional loss from occurring. The surgery is considered experimental and there are risks to the fetus as ...

The relationship of disability and school type to everyday life.

PubMed

Carr, J; Halliwell, M; Pearson, A

1984-12-01

The relationships between disability and school type, and aspects of the everyday lives of 11-year-old children in the GLC Spina Bifida Survey, were explored. The more disabled children were found to be less likely to go out on their own or with friends, although not less likely to go out with sibs or adults. They were equally likely to have friends visiting them at home, but less likely to have friends living in the locality, and to go out to visit them. Special school children were more often described as lonely, and of children with visible disabilities those in special schools were more often teased outside school than were those in ordinary schools. Personality ratings by teachers showed little difference between the spina bifida children and other groups of non-handicapped children, but ratings by mothers suggest that the spina bifida children were more likely to alternate between childish and adolescent behaviours.

Residential Agricultural Pesticide Exposures and Risk of Neural Tube Defects and Orofacial Clefts Among Offspring in the San Joaquin Valley of California

PubMed Central

Yang, Wei; Carmichael, Suzan L.; Roberts, Eric M.; Kegley, Susan E.; Padula, Amy M.; English, Paul B.; Shaw, Gary M.

2014-01-01

We examined whether early gestational exposures to pesticides were associated with an increased risk of anencephaly, spina bifida, cleft lip with or without cleft palate (CLP), or cleft palate only. We used population-based data along with detailed information from maternal interviews. Exposure estimates were based on residential proximity to agricultural pesticide applications during early pregnancy. The study population derived from the San Joaquin Valley, California (1997–2006). Analyses included 73 cases with anencephaly, 123 with spina bifida, 277 with CLP, and 117 with cleft palate only in addition to 785 controls. A total of 38% of the subjects were exposed to 52 chemical groups and 257 specific chemicals. There were relatively few elevated odds ratios with 95% confidence intervals that excluded 1 after adjustment for relevant covariates. Those chemical groups included petroleum derivatives for anencephaly, hydroxybenzonitrile herbicides for spina bifida, and 2,6-dinitroaniline herbicides and dithiocarbamates-methyl isothiocyanate for CLP. The specific chemicals included 2,4-D dimethylamine salt, methomyl, imidacloprid, and α-(para-nonylphenyl)-ω-hydroxypoly(oxyethylene) phosphate ester for anencephaly; the herbicide bromoxynil octanoate for spina bifida; and trifluralin and maneb for CLP. Adjusted odds ratios ranged from 1.6 to 5.1. Given that such odds ratios might have arisen by chance because of the number of comparisons, our study showed a general lack of association between a range of agricultural pesticide exposures and risks of selected birth defects. PMID:24553680

Unpredicted spontaneous extrusion of a renal calculus in an adult male with spina bifida and paraplegia: report of a misdiagnosis. Measures to be taken to reduce urological errors in spinal cord injury patients

PubMed Central

Vaidyanathan, Subramanian; Hughes, Peter L; Soni, Bhakul M; Singh, Gurpreet; Mansour, Paul; Sett, Pradipkumar

2001-01-01

Background A delay in diagnosis or a misdiagnosis may occur in patients with spinal cord injury (SCI) or spinal bifida as typical symptoms of a clinical condition may be absent because of their neurological impairment. Case presentation A 29-year old male, who was born with spina bifida and hydrocephalus, became unwell and developed a swelling and large red mark in his left loin eighteen months ago. Pyonephrosis or perinephric abscess was suspected. X-ray of the abdomen showed left-sided staghorn calculus. Since ultrasound scan showed no features of pyonephrosis or perinephric abscess, he was prescribed a prolonged course of antibiotics for infection presumed to arise from the site of metal implant in spine. He developed a discharging sinus, following which the loin swelling and red mark subsided. About three months ago, he again developed a red mark and minimal swelling in the left loin. Ultrasound scan detected no abnormality in the renal or perinephric region. Therefore, the red mark and swelling were attributed to pressure from the backrest of his chair. Five weeks later, the swelling in the left loin burst open and a large stone was extruded spontaneously. An X-ray of the abdomen showed that he had extruded the central portion of the staghorn calculus from left kidney. With hindsight, the extruded renal calculus could be seen lying in the subcutaneous tissue of left loin lateral to the 10th rib in the X-ray of abdomen, which was taken when he presented with red mark and minimal swelling. Conclusion This case illustrates how mistakes in diagnosis could occur in spinal cord injury patients, and highlights the need for corrective measures to reduce urological errors in these patients. Voluntary reporting of urological errors is recommended to facilitate learning from our mistakes. In the patients who have marked spinal curvature, ultrasonography of kidneys and perinephric region may not be entirely reliable. As clinical symptoms and signs may be non-specific in

Neural tube defects in Malaysia: data from the Malaysian National Neonatal Registry.

PubMed

Boo, Nem-Yun; Cheah, Irene G S; Thong, Meow-Keong

2013-10-01

This study aimed to determine the prevalence and early outcome of neural tube defects (NTDs) in Malaysia. This prospective study included all neonates with NTDs (spina bifida, anencephaly, encephalocoele) born in 2009 in 32 Malaysian hospitals in the Malaysian National Neonatal Network. The prevalence of NTDs was 0.42 per 1000 live births, being highest among the indigenous people of Sarawak (1.09 per 1000 live births) and lowest among Malaysians of Chinese descent (0.09 per 1000 live births). The most common type of NTDs was anencephaly (0.19 per 1000 live births), followed by spina bifida (0.11 per 1000 live births) and encephalocoele (0.07 per 1000 live births). Majority of the infants with anencephaly (94.5%, n = 51), 45.8% (n = 11) with encephalocoele and 9.5% (n = 4) with spina bifida died. The median duration of hospital stay was 4 (range: 0-161) days. NTDs were common in Malaysia. Mortality was high. Long-term monitoring of NTD prevalence following folic fortification of food is recommended.

Modeling travel impedance to medical care for children with birth defects using Geographic Information Systems.

PubMed

Delmelle, Eric M; Cassell, Cynthia H; Dony, Coline; Radcliff, Elizabeth; Tanner, Jean Paul; Siffel, Csaba; Kirby, Russell S

2013-10-01

Children with birth defects may face significant geographic barriers accessing medical care and specialized services. Using a Geographic Information Systems-based approach, one-way travel time and distance to access medical care for children born with spina bifida was estimated. Using 2007 road information from the Florida Department of Transportation, we built a topological network of Florida roads. Live-born Florida infants with spina bifida during 1998 to 2007 were identified by the Florida Birth Defects Registry and linked to hospital discharge records. Maternal residence at delivery and hospitalization locations were identified during the first year of life. Of 668 infants with spina bifida, 8.1% (n = 54) could not be linked to inpatient data, resulting in 614 infants. Of those 614 infants, 99.7% (n = 612) of the maternal residential addresses at delivery were successfully geocoded. Infants with spina bifida living in rural areas in Florida experienced travel times almost twice as high compared with those living in urban areas. When aggregated at county levels, one-way network travel times exhibited statistically significant spatial autocorrelation, indicating that families living in some clusters of counties experienced substantially greater travel times compared with families living in other areas of Florida. This analysis demonstrates the usefulness of linking birth defects registry and hospital discharge data to examine geographic differences in access to medical care. Geographic Information Systems methods are important in evaluating accessibility and geographic barriers to care and could be used among children with special health care needs, including children with birth defects. Copyright © 2013 Wiley Periodicals, Inc.

Contemporary epidemiological trends in complex congenital genitourinary anomalies.

PubMed

Lloyd, Jessica C; Wiener, John S; Gargollo, Patricio C; Inman, Brant A; Ross, Sherry S; Routh, Jonathan C

2013-10-01

Anecdotal evidence suggests that complex congenital genitourinary anomalies are occurring less frequently. However, few epidemiological studies are available to confirm or refute this suggestion. The Kids' Inpatient Database (KID) is a national, all payer database of several million inpatient pediatric hospitalizations per year, including complicated and uncomplicated in-hospital births. We reviewed the 1997 to 2009 KID to determine the birth prevalence of spina bifida, posterior urethral valves, bladder exstrophy, epispadias, prune belly syndrome, ambiguous genitalia and imperforate anus. For posterior urethral valves and prune belly syndrome we limited our search to newborn males only. During the study period, there was a diagnosis of spina bifida in 3,413 neonates, bladder exstrophy in 214, epispadias in 1,127, ambiguous genitalia in 726, prune belly syndrome in 180, posterior urethral valves in 578 and imperforate anus in 4,040. We identified no significant change in the birth prevalence of spina bifida (from 33.9 new spina bifida births of 100,000 uncomplicated births to 29.0/100,000, p = 0.08), posterior urethral valves (from 10.4/100,000 to 11.0/100,000, p = 0.51), prune belly syndrome (from 4.8/100,000 to 3.3/100,000, p = 0.44) or ambiguous genitalia (from 5.82/100,000 to 5.87/100,000, p = 0.38). There was a significant decrease in the birth prevalence of bladder exstrophy (from 2.4/100,000 to 1.6/100,000 uncomplicated births, p = 0.01) and a significant increase in epispadias (from 8.0/100,000 to 11.6/100,000) and imperforate anus (from 33.6/100,000 to 35.0/100,000, each p = 0.04) during the study period. The birth prevalence of spina bifida, posterior urethral valves and prune belly syndrome appears to have been stable in the last 12 years. Epispadias, ambiguous genitalia and imperforate anus diagnoses in newborns became more common in the same period, while bladder exstrophy diagnoses became less common. Copyright © 2013 American Urological Association

Physiological relevance of LL-37 induced bladder inflammation and mast cells.

PubMed

Oottamasathien, Siam; Jia, Wanjian; Roundy, Lindsi McCoard; Zhang, Jianxing; Wang, Li; Ye, Xiangyang; Hill, A Cameron; Savage, Justin; Lee, Wong Yong; Hannon, Ann Marie; Milner, Sylvia; Prestwich, Glenn D

2013-10-01

We established the physiological relevance of LL-37 induced bladder inflammation. We hypothesized that 1) human urinary LL-37 is increased in pediatric patients with spina bifida, 2) LL-37 induced inflammation occurs in our mouse model via urothelial binding and is dose dependent and 3) LL-37 induced inflammation involves mast cells. To test our first hypothesis, we obtained urine samples from 56 pediatric patients with spina bifida and 22 normal patients. LL-37 was measured by enzyme-linked immunosorbent assay. Our second hypothesis was tested in C57Bl/6 mice challenged with 7 LL-37 concentrations intravesically for 1 hour. At 24 hours tissues were examined histologically and myeloperoxidase assay was done to quantitate inflammation. In separate experiments fluorescent LL-37 was instilled and tissues were obtained immediately (time = 0) and at 24 hours (time = 24). To test our final hypothesis, we performed immunohistochemistry for mast cell tryptase and evaluated 5 high power fields per bladder to determine the mean number of mast cells per mm(2). Urinary LL-37 was 89-fold higher in patients with spina bifida. Mouse LL-37 dose escalation experiments revealed increased inflammation at higher LL-37 concentrations. Fluorescent LL-37 demonstrated global urothelial binding at time = 0 but was not visible at time = 24. Immunohistochemistry for tryptase revealed mast cell infiltration in all tissue layers. At higher concentrations the LL-37 challenge led to significantly greater mast cell infiltration. Urinary LL-37 was significantly increased in pediatric patients with spina bifida. To our knowledge we report for the first time that LL-37 can elicit profound, dose dependent bladder inflammation involving the urothelium. Finally, inflammation propagation involves mast cells. Copyright © 2013 American Urological Association Education and Research, Inc. Published by Elsevier Inc. All rights reserved.

Physiological Relevance of LL-37 Induced Bladder Inflammation and Mast Cells

PubMed Central

Roundy, Lindsi McCoard; Zhang, Jianxing; Wang, Li; Ye, Xiangyang; Hill, A. Cameron; Savage, Justin; Lee, Wong Yong; Hannon, Ann Marie; Milner, Sylvia; Prestwich, Glenn D.

2014-01-01

Purpose We established the physiological relevance of LL-37 induced bladder inflammation. We hypothesized that 1) human urinary LL-37 is increased in pediatric patients with spina bifida, 2) LL-37 induced inflammation occurs in our mouse model via urothelial binding and is dose dependent and 3) LL-37 induced inflammation involves mast cells. Materials and Methods To test our first hypothesis, we obtained urine samples from 56 pediatric patients with spina bifida and 22 normal patients. LL-37 was measured by enzyme-linked immunosorbent assay. Our second hypothesis was tested in C57Bl/6 mice challenged with 7 LL-37 concentrations intravesically for 1 hour. At 24 hours tissues were examined histologically and myeloperoxidase assay was done to quantitate inflammation. In separate experiments fluorescent LL-37 was instilled and tissues were obtained immediately (time = 0) and at 24 hours (time = 24). To test our final hypothesis, we performed immunohistochemistry for mast cell tryptase and evaluated 5 high power fields per bladder to determine the mean number of mast cells per mm2. Results Urinary LL-37 was 89-fold higher in patients with spina bifida. Mouse LL-37 dose escalation experiments revealed increased inflammation at higher LL-37 concentrations. Fluorescent LL-37 demonstrated global urothelial binding at time = 0 but was not visible at time = 24. Immunohistochemistry for tryptase revealed mast cell infiltration in all tissue layers. At higher concentrations the LL-37 challenge led to significantly greater mast cell infiltration. Conclusions Urinary LL-37 was significantly increased in pediatric patients with spina bifida. To our knowledge we report for the first time that LL-37 can elicit profound, dose dependent bladder inflammation involving the urothelium. Finally, inflammation propagation involves mast cells. PMID:23313203

Hypertension and Spina Bifida

MedlinePlus

SBA National Resource Center: 800-621-3141 Hypertension A disease that often goes undetected. What is hypertension? Hypertension, also called high blood pressure , is a condition in which the arteries of ...

77 FR 58395 - Proposed Data Collections Submitted for Public Comment and Recommendations

Federal Register 2010, 2011, 2012, 2013, 2014

2012-09-20

...-known childhood conditions, including Down syndrome and spina bifida. The birth prevalence of congenital... potential benefits, but few studies have assessed the potential for harm (e.g., increased parental anxiety...

Longitudinal Mediators of Achievement in Mathematics and Reading in Typical and Atypical Development

PubMed Central

Barnes, Marcia A.; Raghubar, Kimberly P.; English, Lianne; Williams, Jeffrey M.; Taylor, Heather; Landry, Susan

2014-01-01

Longitudinal studies of neurodevelopmental disorders that are diagnosed at or before birth and which are associated with specific learning difficulties at school-age provide one method for investigating developmental precursors of later-emerging academic disabilities. Spina bifida myelomeningocele (SBM) is a neurodevelopmental disorder associated with particular problems in mathematics, in contrast to well-developed word reading. Children with SBM (n = 30) and typically developing children (n = 35) were used to determine whether cognitive abilities measured at 36 and 60 months of age mediated the effect of group on mathematical and reading achievement outcomes at 8.5 and 9.5 years of age. A series of multiple mediator models showed that: visual-spatial working memory at 36 months and phonological awareness at 60 months partially mediated the effect of group on math calculations; phonological awareness partially mediated the effect of group on small addition and subtraction problems on a test of math fluency; and visual-spatial working memory mediated the effect of group on a test of math problem solving. Groups did not differ on word reading, and phonological awareness was the only mediator for reading fluency and reading comprehension. The findings are discussed with reference to theories of mathematical development and disability and with respect to both common and differing cognitive correlates of math and reading. PMID:24269579

Longitudinal mediators of achievement in mathematics and reading in typical and atypical development.

PubMed

Barnes, Marcia A; Raghubar, Kimberly P; English, Lianne; Williams, Jeffrey M; Taylor, Heather; Landry, Susan

2014-03-01

Longitudinal studies of neurodevelopmental disorders that are diagnosed at or before birth and are associated with specific learning difficulties at school-age provide one method for investigating developmental precursors of later-emerging academic disabilities. Spina bifida myelomeningocele (SBM) is a neurodevelopmental disorder associated with particular problems in mathematics, in contrast to well-developed word reading. Children with SBM (n=30) and typically developing children (n=35) were used to determine whether cognitive abilities measured at 36 and 60 months of age mediated the effect of group on mathematical and reading achievement outcomes at 8.5 and 9.5 years of age. A series of multiple mediator models showed that: visual-spatial working memory at 36 months and phonological awareness at 60 months partially mediated the effect of group on math calculations, phonological awareness partially mediated the effect of group on small addition and subtraction problems on a test of math fluency, and visual-spatial working memory mediated the effect of group on a test of math problem solving. Groups did not differ on word reading, and phonological awareness was the only mediator for reading fluency and reading comprehension. The findings are discussed with reference to theories of mathematical development and disability and with respect to both common and differing cognitive correlates of math and reading. Copyright © 2013 Elsevier Inc. All rights reserved.

Health Issues and Treatments

MedlinePlus

... infants, school age, and adolescent/young adult. Latex (Natural Rubber) Allergy Many people with spina bifida are allergic to products that contain latex, or natural rubber. This means they should not use items ...

Second Trimester Maternal Serum Screening

MedlinePlus

... Non-invasive Prenatal Screening (2016) Elsewhere On The Web National Down Syndrome Society Spina Bifida Association Trisomy ... request form. If your question relates to this web site and not to a specific lab test, ...

Neural Tube Defects

MedlinePlus

Neural tube defects are birth defects of the brain, spine, or spinal cord. They happen in the ... that she is pregnant. The two most common neural tube defects are spina bifida and anencephaly. In ...

Scoliosis

MedlinePlus

... problem that affects the muscles. Problems can include cerebral palsy , muscular dystrophy , spina bifida, and polio . ... They may have another serious disorder, such as cerebral palsy or muscular dystrophy, so their goals are much ...

What Are Neural Tube Defects?

MedlinePlus

... are born with spina bifida will have normal intelligence, but some will have learning or intellectual disabilities . ... effects, some children with this condition have normal intelligence. 6 Iniencephaly Iniencephaly(pronounced in-ee-ehn-SEF- ...

How Many People Are Affected By or Are at Risk for Neural Tube Defects?

MedlinePlus

... of the Scientific Director (OSD) Affinity Groups & Labs (AG&L) Scientists Emeriti National Center for Medical Rehabilitation ... for Disease Control and Prevention. (2011). Spina bifida: Data and statistics. Retrieved May 19, 2012, from http:// ...

Children with Disabilities Who Use Assistive Technology: Ethical Considerations.

ERIC Educational Resources Information Center

Holder-Brown, Loreta; Parette, Howard P. Jr.

1992-01-01

Discusses some of the ethical concerns that early childhood professionals should consider when identifying or adapting assistive technologies for young children with such disabilities as cerebral palsy, spina bifida, visual impairments, and hearing impairments. (BB)

Going to an Occupational Therapist

MedlinePlus

... ocupacional Mornings are tough for Joe. He has cerebral palsy , a condition that affects the brain's control over ... in the lines. Some kids with conditions like cerebral palsy (like Joe), muscular dystrophy , or spina bifida may ...

Birth Defects (For Parents)

MedlinePlus

... Palate Clubfoot Tetralogy of Fallot (TOF) Spina Bifida Cerebral Palsy Gene Therapy and Children Congenital Hypothyroidism Folic Acid ... Lip and Cleft Palate Cleft Lip and Palate Cerebral Palsy Having a Healthy Pregnancy View more About Us ...

Wheelchairs

MedlinePlus

... Others have disabilities due to muscular dystrophy or cerebral palsy . In some cases, kids have wheelchairs but don' ... Therapist In the Band: Jens' Story Spina Bifida Cerebral Palsy View more About Us Contact Us Partners Editorial ...

When Your Baby Has a Birth Defect

MedlinePlus

... as heart defects, cleft lip and palate, or cerebral palsy. Still, you may find yourself being both the ... the NICU Gene Therapy and Children Down Syndrome Cerebral Palsy Spina Bifida Prenatal Genetic Counseling What Is a ...

Genetics Home Reference: spondylocostal dysostosis

MedlinePlus

... spina bifida and a brain abnormality called a Chiari malformation. Although breathing problems can be fatal early in ... Resources MedlinePlus (6 links) Encyclopedia: Scoliosis Health Topic: Chiari Malformation Health Topic: Neural Tube Defects Health Topic: Scoliosis ...

38 CFR 21.8010 - Definitions and abbreviations.

Code of Federal Regulations, 2014 CFR

2014-07-01

... Children of Vietnam Veterans and Veterans with Covered Service in Korea-Spina Bifida and Covered Birth... covered service in Korea means a veteran defined at § 3.814(c)(2) of this title. Vietnam veteran means, in...

What variables influence the ability of an AFO to improve function and when are they indicated?

PubMed

Malas, Bryan S

2011-05-01

Children with spina bifida often present with functional deficits of the lower limb associated with neurosegmental lesion levels and require orthotic management. The most used orthosis for children with spina bifida is the ankle-foot orthosis (AFO). The AFO improves ambulation and reduces energy cost while walking. Despite the apparent benefits of using an AFO, limited evidence documents the influence of factors predicting the ability of an AFO to improve function and when they are indicated. These variables include AFO design, footwear, AFO-footwear combination, and data acquisition. When these variables are not adequately considered in clinical decision-making, there is a risk the AFO will be abandoned prematurely or the patient's stability, function, and safety compromised. The purposes of this study are to (1) describe the functional deficits based on lesion levels; (2) identify and describe variables that influence the ability of an AFO to control deformities; and (3) describe what variables are indicated for the AFO to control knee flexion during stance, hyperpronation, and valgus stress at the knee. A selective literature review was undertaken searching MEDLINE and Cochrane databases using terms related to "orthosis" and "spina bifida." Based on previous studies and gait analysis data, suggestions can be made regarding material selection/geometric configuration, sagittal alignment, footplate length, and trim lines of an AFO for reducing knee flexion, hyperpronation, and valgus stress at the knee. Further research is required to determine what variables allow an AFO to improve function.

38 CFR 3.815 - Monetary allowance under 38 U.S.C. chapter 18 for an individual with disability from covered...

Code of Federal Regulations, 2012 CFR

2012-07-01

..., the following: (i) Down syndrome and other Trisomies; (ii) Fragile X syndrome; (iii) Klinefelter's... atresia; (vi) Hallerman-Streiff syndrome; (vii) Hip dysplasia; (viii) Hirschprung's disease (congenital...) Neural tube defects (including spina bifida, encephalocele, and anencephaly); (xiii) Poland syndrome...

38 CFR 3.815 - Monetary allowance under 38 U.S.C. chapter 18 for an individual with disability from covered...

Code of Federal Regulations, 2013 CFR

2013-07-01

..., the following: (i) Down syndrome and other Trisomies; (ii) Fragile X syndrome; (iii) Klinefelter's... atresia; (vi) Hallerman-Streiff syndrome; (vii) Hip dysplasia; (viii) Hirschprung's disease (congenital...) Neural tube defects (including spina bifida, encephalocele, and anencephaly); (xiii) Poland syndrome...

38 CFR 3.815 - Monetary allowance under 38 U.S.C. chapter 18 for an individual with disability from covered...

Code of Federal Regulations, 2014 CFR

2014-07-01

..., the following: (i) Down syndrome and other Trisomies; (ii) Fragile X syndrome; (iii) Klinefelter's... atresia; (vi) Hallerman-Streiff syndrome; (vii) Hip dysplasia; (viii) Hirschprung's disease (congenital...) Neural tube defects (including spina bifida, encephalocele, and anencephaly); (xiii) Poland syndrome...

Maternal occupation and the risk of neural tube defects in offspring.

PubMed

Kim, Jihye; Langlois, Peter H; Mitchell, Laura E; Agopian, A J

2017-07-19

We evaluated the association between maternal occupation and the risk of neural tube defects (NTDs) in offspring. Data for 491 nonsyndromic cases were obtained from the Texas Birth Defects Registry for deliveries between 1999 and 2009. We randomly selected 2,291 controls among all live births in Texas during this time. Maternal occupations were classified using automated software and manual assignment. Multivariable logistic regression analyses were used to examine the relationship between maternal occupation and risk for any NTD, adjusting for maternal race/ethnicity, any diabetes, and maternal body mass index. These analyses were repeated for spina bifida specifically. Some maternal occupations, particularly those related to business/finance, health care practice, and cleaning/maintenance, were significantly associated with increased risk of spina bifida and/or any NTD. Further research is needed to identify the specific occupational exposures related to NTD risk.

Structural properties of the tubular appendage spinae from marine bacterium Roseobacter sp. strain YSCB

PubMed Central

Bernadac, A.; Wu, L.-F.; Santini, C.-L.; Vidaud, C.; Sturgis, J. N.; Menguy, N.; Bergam, P.; Nicoletti, C.; Xiao, T.

2012-01-01

Spinae are tubular surface appendages broadly found in Gram-negative bacteria. Little is known about their architecture, function or origin. Here, we report structural characterization of the spinae from marine bacteria Roseobacter sp. YSCB. Electron cryo-tomography revealed that a single filament winds into a hollow flared base with progressive change to a cylinder. Proteinase K unwound the spinae into proteolysis-resistant filaments. Thermal treatment ripped the spinae into ribbons that were melted with prolonged heating. Circular dichroism spectroscopy revealed a dominant beta-structure of the spinae. Differential scanning calorimetry analyses showed three endothermic transformations at 50–85°C, 98°C and 123°C, respectively. The heating almost completely disintegrated the spinae, abolished the 98°C transition and destroyed the beta-structure. Infrared spectroscopy identified the amide I spectrum maximum at a position similar to that of amyloid fibrils. Therefore, the spinae distinguish from other bacterial appendages, e.g. flagella and stalks, in both the structure and mechanism of assembly. PMID:23230515

76 FR 58567 - Proposed Information Collection (Request for Transportation Expense Reimbursement) Activity...

Federal Register 2010, 2011, 2012, 2013, 2014

2011-09-21

... (Request for Transportation Expense Reimbursement) Activity; Comment Request AGENCY: Veterans Benefits... needed to determine children with spina bifida eligibility for reimbursement of transportation expenses...: Request for Transportation Expense Reimbursement (38 CFR 21.8370). OMB Control Number: 2900-0580. Type of...

Spina Bifida Association of America

MedlinePlus

... N-Roll for SB Other Giving Options Dreamers Coffee Campaign Give at the Office Become a Corporate ... N-Roll for SB Other Giving Options Dreamers Coffee Campaign Give at the Office Become a Corporate ...

Genetics Home Reference: spina bifida

MedlinePlus

... PubMed or Free article on PubMed Central Bassuk AG, Kibar Z. Genetic basis of neural tube defects. ... qualified healthcare professional . About Selection Criteria for Links Data Files & API Site Map Subscribe Customer Support USA. ...

38 CFR 21.8286 - Training resources.

Code of Federal Regulations, 2010 CFR

2010-07-01

... 38 Pensions, Bonuses, and Veterans' Relief 2 2010-07-01 2010-07-01 false Training resources. 21...) VOCATIONAL REHABILITATION AND EDUCATION Vocational Training and Rehabilitation for Certain Children of Vietnam Veterans-Spina Bifida and Covered Birth Defects Vocational Training Program Entrance, Termination...

Stage specific requirement of platelet-derived growth factor receptor-α in embryonic development.

PubMed

Qian, Chen; Wong, Carol Wing Yan; Wu, Zhongluan; He, Qiuming; Xia, Huimin; Tam, Paul Kwong Hang; Wong, Kenneth Kak Yuen; Lui, Vincent Chi Hang

2017-01-01

Platelet-derived growth factor receptor alpha (PDGFRα) is a cell-surface receptor tyrosine kinase for platelet-derived growth factors. Correct timing and level of Pdgfra expression is crucial for embryo development, and deletion of Pdgfra caused developmental defects of multiple endoderm and mesoderm derived structures, resulting in a complex phenotypes including orofacial cleft, spina bifida, rib deformities, and omphalocele in mice. However, it is not clear if deletion of Pdgfra at different embryonic stages differentially affects these structures. To address the temporal requirement of Pdgfra in embryonic development. We have deleted the Pdgfra in Pdgfra-expressing tissues at different embryonic stages in mice, examined and quantified the developmental anomalies. Current study showed that (i) conditional deletion of Pdgfra at different embryonic days (between E7.5 and E10.5) resulted in orofacial cleft, spina bifida, rib cage deformities, and omphalocele, and (ii) the day of Pdgfra deletion influenced the combinations, incidence and severities of these anomalies. Deletion of Pdgfra caused apoptosis of Pdgfra-expressing tissues, and developmental defects of their derivatives. Orofacial cleft, spina bifida and omphalocele are among the commonest skeletal and abdominal wall defects of newborns, but their genetic etiologies are largely unknown. The remarkable resemblance of our conditional Pdgfra knockout embryos to theses human congenital anomalies, suggesting that dysregulated PDGFRA expression could cause these anomalies in human. Future work should aim at defining (a) the regulatory elements for the expression of the human PDGFRA during embryonic development, and (b) if mutations / sequence variations of these regulatory elements cause these anomalies.

Swimming for the Handicapped Child and Adult: Occasional Papers No. 10.

ERIC Educational Resources Information Center

Neishloss, Lou

Outlined are physiological and psychological values of swimming for the handicapped, basic principles and teaching procedures for instructing physically handicapped persons, and specific suggestions for teaching swimming to persons with the following conditions; amputations, polio, paraplegia, cerebral palsy, spina bifida, Legg-Perthes Disease,…

National Organizations Raising Public Consciousness. Part II.

ERIC Educational Resources Information Center

Exceptional Parent, 1980

1980-01-01

Statements of seven national organizations (Muscular Dystrophy Association, Spina Bifida Association of America, National Easter Seal Society, International Association of Parents of the Deaf, American Foundation for the Blind, Down's Syndrome Congress, and the National Society for Autistic Children) about raising community awareness of issues…

Ethical Problems of Screening for Neural Tube Defects.

ERIC Educational Resources Information Center

Habgood, J. S.

1978-01-01

Among the ethical problems in screening for severe spina bifida in a fetus are deciding who should be screened; whether the procedure, which has medical risks, is justified; and how to deal with the only known solution--abortion. Journal availability: see EC 114 865. (PHR)

Gastrointestinal Disorders in Children with Neurodevelopmental Disabilities

ERIC Educational Resources Information Center

Sullivan, Peter B.

2008-01-01

Children with neurodevelopmental disabilities such as cerebral palsy (CP), spina bifida, or inborn errors of metabolism frequently have associated gastrointestinal problems. These include oral motor dysfunction leading to feeding difficulties, risk of aspiration, prolonged feeding times, and malnutrition with its attendant physical compromise.…

38 CFR 21.8360 - Satisfactory conduct and cooperation.

Code of Federal Regulations, 2010 CFR

2010-07-01

... 38 Pensions, Bonuses, and Veterans' Relief 2 2010-07-01 2010-07-01 false Satisfactory conduct and... Children of Vietnam Veterans-Spina Bifida and Covered Birth Defects Satisfactory Conduct and Cooperation § 21.8360 Satisfactory conduct and cooperation. The provisions for satisfactory conduct and cooperation...

Home Care for Children with Chronic Illnesses and Severe Disabilities: A Bibliography and Resource Guide.

ERIC Educational Resources Information Center

Wells, Alice; And Others

The bibliography and resource guide summarizes relevant research and information on home care for children with disabilities and chronic illnesses, including those with such diagnoses as spina bifida, cerebral palsy, severe mental retardation, acquired immune deficiency syndrome (AIDS), hemophilia, sickle cell anemia, autism, or failure-to-thrive…

38 CFR 21.8370 - Authorization of transportation services.

Code of Federal Regulations, 2010 CFR

2010-07-01

... Certain Children of Vietnam Veterans-Spina Bifida and Covered Birth Defects Transportation Services § 21... non-VA programs; or (3) Can commute to school with family, friends, or fellow students. (Authority: 38... has approved the information collection requirements in this section under control number 2900-0580...

Pediatric Psychology: Applications to the Schools Needs of Children with Health Disorders.

ERIC Educational Resources Information Center

Perry, Joseph D.; Flanagan, William K.

1986-01-01

A review of pediatric psychology considers interventions by school personnel to promote the school adjustment of children with serious medical illness. Psychosocial and educational impacts of cancer, spina bifida, enuresis, and encopresis are discussed; and suggestions for managing children with chronic health disorders, serious illness, and…

75 FR 32540 - Health Effects Not Associated With Exposure to Certain Herbicide Agents

Federal Register 2010, 2011, 2012, 2013, 2014

2010-06-08

... people, childhood cancer (including acute myelogenous leukemia) in offspring of exposed people; and any... defects (other than spina bifida) in offspring of exposed people, and childhood cancer (including acute... to UV radiation, which was not adjusted for. It should be noted that eye cancer is sometimes reported...

Neural tube defects – recent advances, unsolved questions and controversies

PubMed Central

Copp, Andrew J.; Stanier, Philip; Greene, Nicholas D. E.

2014-01-01

Neural tube defects (NTDs) are severe congenital malformations affecting around 1 in every 1000 pregnancies. Here we review recent advances and currently unsolved issues in the NTD field. An innovation in clinical management has come from the demonstration that closure of open spina bifida lesions in utero can diminish neurological dysfunction in children. Primary prevention by folic acid has been enhanced through introduction of mandatory food fortification in some countries, although not yet in UK. Genetic predisposition comprises the majority of NTD risk, and genes that regulate folate one-carbon metabolism and planar cell polarity have been strongly implicated. The sequence of human neural tube closure events remains controversial, but study of mouse NTD models shows that anencephaly, open spina bifida and craniorachischisis result from failure of primary neurulation, while skin-covered spinal dysraphism results from defective secondary neurulation. Other ‘NTD’ malformations, such as encephalocele, are likely to be post-neurulation disorders. PMID:23790957

Observed and perceived parental overprotection in relation to psychosocial adjustment in preadolescents with a physical disability: the mediational role of behavioral autonomy.

PubMed

Holmbeck, Grayson N; Johnson, Sharon Z; Wills, Karen E; McKernon, Wendy; Rose, Brigid; Erklin, Shannon; Kemper, Therese

2002-02-01

The purpose of this study was to tes a mediational model of associations between parental overprotectiveness (OP), behavioral autonomy. and psychosocial adjustment in 68 families with 8- and 9-year-old preadolescents with spipa bifida and a demographically matched sample of 68 families with able-bodied children. Measures included questionnaire and observational assessments of parental OP; parent and child reports of behavioral autonomy; and parent, child, and teacher reports of preadolescent adjustment. On the basis of both questionnaire and observational measures of OP, mothers and fathers of children with spina bifida were significantly more overprotective than their counterparts in the able-bodied sample, although this group difference was partially mediated by children's cognitive ability. Across samples, mothers were more likely to be overprotective than fathers. Both questionnaire and observational measures of parental OP were associated with lower levels of preadolescent decision-making autonomy as well as with parents being less willing to grant autonomy to their offspring in the future. For the questionnaire measure of OP, and only for the spina bifida sample. the mediational model was supported such that parental OP was associated with less behavioral autonomy, which was, in turn, associated with more externalizing problems. Findings are discussed in relation to the literature on parenting, autonomy development, and pediatric psychology.

Dose Range-Finding Developmental Toxicity (Segment II) Study of WR242511 in Rabbits

DTIC Science & Technology

1994-07-26

NA = Not applicable R = Right NK = Neck PT = Protruded tongue CP = Cleft palate N = No visible L = Left HL = Hind limb SB = Spina bifida CL = Cleft ... lip abnormalities M = Male FL = Fore limb SUBQ = Subcutaneous HT = Hematoma A = Alive F = Female DI = Digit P = Petechial EX = Exophthalmos D

Spirituality, Loss and Recovery in Children with Disabilities

ERIC Educational Resources Information Center

Erickson, David V.

2008-01-01

This article focuses on loss, recovery and spiritual dimensions of trauma in spinal cord injury (SCI) during adolescence. From a clinical perspective, while there are physical characteristics in common with congenital childhood disabilities such as spina bifida, life adjustment issues associated with acquired disabilities can be quite different,…

38 CFR 21.8100 - Counseling.

Code of Federal Regulations, 2010 CFR

2010-07-01

... 38 Pensions, Bonuses, and Veterans' Relief 2 2010-07-01 2010-07-01 false Counseling. 21.8100... Vietnam Veterans-Spina Bifida and Covered Birth Defects Counseling § 21.8100 Counseling. An eligible child requesting or receiving services and assistance under this subpart will receive professional counseling by VR...

38 CFR 21.8282 - Termination of a vocational training program.

Code of Federal Regulations, 2010 CFR

2010-07-01

... for Certain Children of Vietnam Veterans-Spina Bifida and Covered Birth Defects Vocational Training..., administrative error, or finding that the child no longer has a covered birth defect. An eligible child for whom... covered birth defect. The effective date of termination will be the earliest of the following applicable...

38 CFR 21.8030 - Requirement for evaluation of child.

Code of Federal Regulations, 2012 CFR

2012-07-01

... evaluation of child. 21.8030 Section 21.8030 Pensions, Bonuses, and Veterans' Relief DEPARTMENT OF VETERANS... Certain Children of Vietnam Veterans and Veterans with Covered Service in Korea-Spina Bifida and Covered Birth Defects Evaluation § 21.8030 Requirement for evaluation of child. (a) Children to be evaluated...

38 CFR 21.8030 - Requirement for evaluation of child.

Code of Federal Regulations, 2013 CFR

2013-07-01

... evaluation of child. 21.8030 Section 21.8030 Pensions, Bonuses, and Veterans' Relief DEPARTMENT OF VETERANS... Certain Children of Vietnam Veterans and Veterans with Covered Service in Korea-Spina Bifida and Covered Birth Defects Evaluation § 21.8030 Requirement for evaluation of child. (a) Children to be evaluated...

38 CFR 21.8030 - Requirement for evaluation of child.

Code of Federal Regulations, 2010 CFR

2010-07-01

... evaluation of child. 21.8030 Section 21.8030 Pensions, Bonuses, and Veterans' Relief DEPARTMENT OF VETERANS... Certain Children of Vietnam Veterans-Spina Bifida and Covered Birth Defects Evaluation § 21.8030 Requirement for evaluation of child. (a) Children to be evaluated. The VR&E Division will evaluate each child...

38 CFR 21.8030 - Requirement for evaluation of child.

Code of Federal Regulations, 2011 CFR

2011-07-01

... evaluation of child. 21.8030 Section 21.8030 Pensions, Bonuses, and Veterans' Relief DEPARTMENT OF VETERANS... Certain Children of Vietnam Veterans and Veterans with Covered Service in Korea-Spina Bifida and Covered Birth Defects Evaluation § 21.8030 Requirement for evaluation of child. (a) Children to be evaluated...

38 CFR 21.8030 - Requirement for evaluation of child.

Code of Federal Regulations, 2014 CFR

2014-07-01

... evaluation of child. 21.8030 Section 21.8030 Pensions, Bonuses, and Veterans' Relief DEPARTMENT OF VETERANS... Certain Children of Vietnam Veterans and Veterans with Covered Service in Korea-Spina Bifida and Covered Birth Defects Evaluation § 21.8030 Requirement for evaluation of child. (a) Children to be evaluated...

38 CFR 17.905 - Medical records.

Code of Federal Regulations, 2012 CFR

2012-07-01

... 38 Pensions, Bonuses, and Veterans' Relief 1 2012-07-01 2012-07-01 false Medical records. 17.905 Section 17.905 Pensions, Bonuses, and Veterans' Relief DEPARTMENT OF VETERANS AFFAIRS MEDICAL Health Care Benefits for Certain Children of Vietnam Veterans and Veterans with Covered Service in Korea-Spina Bifida...

38 CFR 17.902 - Preauthorization.

Code of Federal Regulations, 2012 CFR

2012-07-01

... 38 Pensions, Bonuses, and Veterans' Relief 1 2012-07-01 2012-07-01 false Preauthorization. 17.902 Section 17.902 Pensions, Bonuses, and Veterans' Relief DEPARTMENT OF VETERANS AFFAIRS MEDICAL Health Care Benefits for Certain Children of Vietnam Veterans and Veterans with Covered Service in Korea-Spina Bifida...

38 CFR 17.903 - Payment.

Code of Federal Regulations, 2011 CFR

2011-07-01

... 38 Pensions, Bonuses, and Veterans' Relief 1 2011-07-01 2011-07-01 false Payment. 17.903 Section 17.903 Pensions, Bonuses, and Veterans' Relief DEPARTMENT OF VETERANS AFFAIRS MEDICAL Health Care Benefits for Certain Children of Vietnam Veterans and Veterans with Covered Service in Korea-Spina Bifida...

38 CFR 17.903 - Payment.

Code of Federal Regulations, 2012 CFR

2012-07-01

... 38 Pensions, Bonuses, and Veterans' Relief 1 2012-07-01 2012-07-01 false Payment. 17.903 Section 17.903 Pensions, Bonuses, and Veterans' Relief DEPARTMENT OF VETERANS AFFAIRS MEDICAL Health Care Benefits for Certain Children of Vietnam Veterans and Veterans with Covered Service in Korea-Spina Bifida...

38 CFR 17.905 - Medical records.

Code of Federal Regulations, 2014 CFR

2014-07-01

... 38 Pensions, Bonuses, and Veterans' Relief 1 2014-07-01 2014-07-01 false Medical records. 17.905 Section 17.905 Pensions, Bonuses, and Veterans' Relief DEPARTMENT OF VETERANS AFFAIRS MEDICAL Health Care Benefits for Certain Children of Vietnam Veterans and Veterans with Covered Service in Korea-Spina Bifida...

38 CFR 17.905 - Medical records.

Code of Federal Regulations, 2011 CFR

2011-07-01

... 38 Pensions, Bonuses, and Veterans' Relief 1 2011-07-01 2011-07-01 false Medical records. 17.905 Section 17.905 Pensions, Bonuses, and Veterans' Relief DEPARTMENT OF VETERANS AFFAIRS MEDICAL Health Care Benefits for Certain Children of Vietnam Veterans and Veterans with Covered Service in Korea-Spina Bifida...

38 CFR 17.903 - Payment.

Code of Federal Regulations, 2013 CFR

2013-07-01

... 38 Pensions, Bonuses, and Veterans' Relief 1 2013-07-01 2013-07-01 false Payment. 17.903 Section 17.903 Pensions, Bonuses, and Veterans' Relief DEPARTMENT OF VETERANS AFFAIRS MEDICAL Health Care Benefits for Certain Children of Vietnam Veterans and Veterans with Covered Service in Korea-Spina Bifida...

38 CFR 17.902 - Preauthorization.

Code of Federal Regulations, 2013 CFR

2013-07-01

... 38 Pensions, Bonuses, and Veterans' Relief 1 2013-07-01 2013-07-01 false Preauthorization. 17.902 Section 17.902 Pensions, Bonuses, and Veterans' Relief DEPARTMENT OF VETERANS AFFAIRS MEDICAL Health Care Benefits for Certain Children of Vietnam Veterans and Veterans with Covered Service in Korea-Spina Bifida...

38 CFR 17.903 - Payment.

Code of Federal Regulations, 2014 CFR

2014-07-01

... 38 Pensions, Bonuses, and Veterans' Relief 1 2014-07-01 2014-07-01 false Payment. 17.903 Section 17.903 Pensions, Bonuses, and Veterans' Relief DEPARTMENT OF VETERANS AFFAIRS MEDICAL Health Care Benefits for Certain Children of Vietnam Veterans and Veterans with Covered Service in Korea-Spina Bifida...

38 CFR 17.905 - Medical records.

Code of Federal Regulations, 2013 CFR

2013-07-01

... 38 Pensions, Bonuses, and Veterans' Relief 1 2013-07-01 2013-07-01 false Medical records. 17.905 Section 17.905 Pensions, Bonuses, and Veterans' Relief DEPARTMENT OF VETERANS AFFAIRS MEDICAL Health Care Benefits for Certain Children of Vietnam Veterans and Veterans with Covered Service in Korea-Spina Bifida...

38 CFR 17.902 - Preauthorization.

Code of Federal Regulations, 2014 CFR

2014-07-01

... 38 Pensions, Bonuses, and Veterans' Relief 1 2014-07-01 2014-07-01 false Preauthorization. 17.902 Section 17.902 Pensions, Bonuses, and Veterans' Relief DEPARTMENT OF VETERANS AFFAIRS MEDICAL Health Care Benefits for Certain Children of Vietnam Veterans and Veterans with Covered Service in Korea-Spina Bifida...

Helping SBH Pupils with Handwriting.

ERIC Educational Resources Information Center

Anderson, Elizabeth

1979-01-01

The article describes two cases of children (7- and 8 1/2-years-old) with spina bifida and hydrocephalus who participated in a research project to discover whether such children could make significant improvements in writing given appropriate help, and to produce an advisory booklet for teachers. (SBH)

Clinical and Surgical Factors Associated With Increased Epilepsy Risk in Children With Hydrocephalus.

PubMed

Tully, Hannah M; Kukull, Walter A; Mueller, Beth A

2016-06-01

Children with hydrocephalus are at risk for epilepsy both due to their underlying condition and as a consequence of surgical treatment; however, the relative contributions of these factors remain unknown. The authors sought to characterize epilepsy among children with infancy-onset hydrocephalus and to examine the risks of epilepsy associated with hydrocephalus subtype and with factors related to surgical treatment. We conducted a longitudinal cohort study of all children with infancy-onset hydrocephalus treated at a major regional children's hospital during 2002 to 2012, with follow-up to ascertain risk factors and epilepsy outcome through April 2015. Poisson regression was used to calculate adjusted risk ratios and 95% confidence intervals for associations. Among 379 children with hydrocephalus, 86 (23%) developed epilepsy (mean onset age = 2.7 years), almost one fifth of whom had a history of infantile spasms. Relative to spina bifida-associated hydrocephalus, children with other major hydrocephalus subtypes had fourfold higher risks of developing epilepsy. Among children who underwent surgery, surgical infection doubled the risk of epilepsy (risk ratio = 2.0, 95% confidence interval = 1.4 to 3.0). Epilepsy was associated with surgical failure for intracranial reasons but not extracranial reasons (risk ratio = 1.7, 95% confidence interval = 1.1 to 2.7; risk ratio = 1.1, 95% confidence interval = 0.7 to 1.9, respectively). Epilepsy is common among children with hydrocephalus. Compared with children with spina bifida-associated hydrocephalus, children with other major hydrocephalus subtypes have a markedly increased risk of epilepsy. Surgical infection doubles the risk of epilepsy. Copyright © 2016 Elsevier Inc. All rights reserved.

Estimate of the potential impact of folic acid fortification of corn masa flour on the prevention of neural tube defects.

PubMed

Tinker, Sarah C; Devine, Owen; Mai, Cara; Hamner, Heather C; Reefhuis, Jennita; Gilboa, Suzanne M; Dowling, Nicole F; Honein, Margaret A

2013-10-01

Hispanics in the US have a higher prevalence of neural tube defect (NTD) -affected pregnancies than non-Hispanic whites, and lower median total folic acid (FA) intake. FA fortification of corn masa flour (CMF) is a policy-level intervention for NTD prevention; however, the impact on NTD prevalence has not been estimated. We developed a model to estimate the percentage reduction in prevalence of spina bifida and anencephaly (NTDs) that could occur with FA fortification of CMF. Model inputs included estimates of the percentage reduction in United States NTD prevalence attributed to FA fortification of enriched cereal grain products (1995-1996 vs. 1998-2002), the increase in median FA intake after enriched cereal grain product fortification, and the estimated increase in median FA intake that could occur with CMF fortification at the same level as enriched cereal grain products (140 μg/100 g). We used Monte Carlo simulation to quantify uncertainty. We stratified analyses by racial/ethnic group and rounded results to the nearest 10. We estimated CMF fortification could prevent 30 Hispanic infants from having spina bifida (95% uncertainty interval: 0, 80) and 10 infants from having anencephaly (95% uncertainty interval: 0, 40) annually. The estimated impact among non-Hispanic whites and blacks was smaller. CMF fortification with FA could prevent from 0 to 120 infants, with the most likely value of approximately 40, from having spina bifida or anencephaly among Hispanics, the population most likely to benefit from the proposed intervention. While this estimated reduction is unlikely to be discernible using current birth defect surveillance methods, it still suggests an important benefit to the target population. Copyright © 2013 Wiley Periodicals, Inc.

Considerations for Integration of Physically Handicapped and Non-Handicapped Preschool Children.

ERIC Educational Resources Information Center

Cormack, Elizabeth O.

Eight physically handicapped (blind, spina bifida, cerebral palsy, or genetic defect) preschool children and eight children with normal sensory motor abilities (mean age of both groups 3 1/2 years) participated in a preschool demonstration project designed to promote equal educational and social experiences in an integrated preschool through the…

Transition to Adult-Oriented Health Care: Perspectives of Youth and Adults with Complex Physical Disabilities

ERIC Educational Resources Information Center

Young, Nancy L.; Barden, Wendy S.; Mills, Wendy A.; Burke, Tricia A.; Law, Mary; Boydell, Katherine

2009-01-01

Introduction: The transition to adulthood is extremely difficult for individuals with disabilities. We sought to explore the specific issue of transition to adult-oriented health care in a Canadian context. Methods: We conducted semi-structured individual interviews with 15 youth and 15 adults with cerebral palsy, spina bifida, and acquired brain…

38 CFR 21.8410 - Delegation of authority.

Code of Federal Regulations, 2010 CFR

2010-07-01

... 38 Pensions, Bonuses, and Veterans' Relief 2 2010-07-01 2010-07-01 false Delegation of authority... Children of Vietnam Veterans-Spina Bifida and Covered Birth Defects Delegation of Authority § 21.8410 Delegation of authority. The Secretary delegates authority for making findings and decisions under 38 U.S.C...

Utilizing Alternative Assessment Techniques with Physically Impaired Students To Increase Work Completion and Improve Work Quality.

ERIC Educational Resources Information Center

Thomas, Traci L.

This paper describes a practicum project that involved teaching 14 students (ages 8 through 13) with physical disabilities (cerebral palsy, spina bifida, and muscular dystrophy) to plan, organize, and complete projects and assignments independently. The paper explains the low expectations for the students and the students' lack of experience in…

Subjective Age in the Transition to Adulthood for Persons with and without Motor Disabilities

ERIC Educational Resources Information Center

Galambos, Nancy L.; Darrah, Johanna; Magill-Evans, Joyce

2007-01-01

This study examined subjective age (how old one feels) and associated variables in 148 emerging adults, ages 20-30 years. Seventy-six participants had a motor disability (cerebral palsy, spina bifida) and 72 had no motor disability. Participants completed questionnaires and were interviewed. There was no significant difference in subjective age…

Neuropathology and Structural Changes in Hydrocephalus

ERIC Educational Resources Information Center

Del Bigio, Marc R.

2010-01-01

In the context of spina bifida, hydrocephalus is usually caused by crowding of the posterior fossa with obstruction to cerebrospinal fluid flow from the forth ventricle, and less often by malformation of the cerebral aqueduct. Enlargement of the cerebral ventricles causes gradual destruction of periventricular white matter axons. Motor, sensory,…

38 CFR 17.905 - Medical records.

Code of Federal Regulations, 2010 CFR

2010-07-01

... 38 Pensions, Bonuses, and Veterans' Relief 1 2010-07-01 2010-07-01 false Medical records. 17.905 Section 17.905 Pensions, Bonuses, and Veterans' Relief DEPARTMENT OF VETERANS AFFAIRS MEDICAL Health Care Benefits for Certain Children of Vietnam Veterans-Spina Bifida and Covered Birth Defects § 17.905 Medical...

38 CFR 21.8014 - Application.

Code of Federal Regulations, 2010 CFR

2010-07-01

... Vietnam Veterans-Spina Bifida and Covered Birth Defects General § 21.8014 Application. (a) Filing an application. To participate in a vocational training program, the child of a Vietnam veteran (or the child's... Vietnam veteran's full name and Social Security number or VA claim number, if any; and (3) Clearly...

Development of Intentionality in the Vocalization of Handicapped Infants Reared in a Hospital Setting.

ERIC Educational Resources Information Center

Bochner, Sandra

1986-01-01

The 15-month study followed the vocal development of five handicapped (Down Syndrome, hydrocephalus, and spina bifida) hospital reared infants. Results suggested that only the two less handicapped infants demonstrated use of sounds for social interaction and that the other infants used vocalization primarily as protest or self-stimulation.…

Roughing It Smoothly.

ERIC Educational Resources Information Center

Turner, Donna

1988-01-01

A mother of a 17-year-old son with spina bifida recounts the family's experiences camping in the Adirondack Mountains. Her son has enjoyed swimming, modified waterskiing, riding to the top of a mountain during the summer on a ski chair lift, and blueberry picking from a toboggan rather than his wheelchair. (VW)

21 CFR 101.79 - Health claims: Folate and neural tube defects.

Code of Federal Regulations, 2013 CFR

2013-04-01

... result in infant mortality or serious disability. The birth defects anencephaly and spina bifida are the... development. Because the neural tube forms and closes during early pregnancy, the defect may occur before a... pregnancy had a reduced risk of having a child with a neural tube defect. (Products containing this level of...

21 CFR 101.79 - Health claims: Folate and neural tube defects.

Code of Federal Regulations, 2014 CFR

2014-04-01

... result in infant mortality or serious disability. The birth defects anencephaly and spina bifida are the... development. Because the neural tube forms and closes during early pregnancy, the defect may occur before a... pregnancy had a reduced risk of having a child with a neural tube defect. (Products containing this level of...

21 CFR 101.79 - Health claims: Folate and neural tube defects.

Code of Federal Regulations, 2012 CFR

2012-04-01

... result in infant mortality or serious disability. The birth defects anencephaly and spina bifida are the... development. Because the neural tube forms and closes during early pregnancy, the defect may occur before a... pregnancy had a reduced risk of having a child with a neural tube defect. (Products containing this level of...

38 CFR 17.900 - Definitions.

Code of Federal Regulations, 2013 CFR

2013-07-01

... Benefits for Certain Children of Vietnam Veterans and Veterans with Covered Service in Korea-Spina Bifida... provider only when acting within the scope of the approval, license, or certificate. Child for purposes of... appropriate members of a child's family or household in the care of the child; and the provision of such...

38 CFR 17.900 - Definitions.

Code of Federal Regulations, 2011 CFR

2011-07-01

... Benefits for Certain Children of Vietnam Veterans and Veterans with Covered Service in Korea-Spina Bifida... provider only when acting within the scope of the approval, license, or certificate. Child for purposes of... appropriate members of a child's family or household in the care of the child; and the provision of such...

38 CFR 17.900 - Definitions.

Code of Federal Regulations, 2012 CFR

2012-07-01

... Benefits for Certain Children of Vietnam Veterans and Veterans with Covered Service in Korea-Spina Bifida... provider only when acting within the scope of the approval, license, or certificate. Child for purposes of... appropriate members of a child's family or household in the care of the child; and the provision of such...

38 CFR 17.900 - Definitions.

Code of Federal Regulations, 2014 CFR

2014-07-01

... Benefits for Certain Children of Vietnam Veterans and Veterans with Covered Service in Korea-Spina Bifida... provider only when acting within the scope of the approval, license, or certificate. Child for purposes of... appropriate members of a child's family or household in the care of the child; and the provision of such...

Reactions to Prenatal Testing: Reflection of Religiosity and Attitudes toward Abortion and People with Disabilities.

ERIC Educational Resources Information Center

Bell, Martie; Stoneman, Zolinda

2000-01-01

A study asked 166 undergraduates what they would do if through prenatal testing they discovered that they (or their partner) were carrying a fetus with disabilities. Respondents were more uncertain about whether to continue the pregnancy when the fetus was diagnosed with Down syndrome than with spina bifida or hemophilia. (Contains references.)…

38 CFR 21.8340 - Leaves of absence.

Code of Federal Regulations, 2012 CFR

2012-07-01

... 38 Pensions, Bonuses, and Veterans' Relief 2 2012-07-01 2012-07-01 false Leaves of absence. 21... Vietnam Veterans and Veterans with Covered Service in Korea-Spina Bifida and Covered Birth Defects Leaves of Absence § 21.8340 Leaves of absence. (a) Purpose of leave of absence. The purpose of the leave...

38 CFR 21.8340 - Leaves of absence.

Code of Federal Regulations, 2011 CFR

2011-07-01

... 38 Pensions, Bonuses, and Veterans' Relief 2 2011-07-01 2011-07-01 false Leaves of absence. 21... Vietnam Veterans and Veterans with Covered Service in Korea-Spina Bifida and Covered Birth Defects Leaves of Absence § 21.8340 Leaves of absence. (a) Purpose of leave of absence. The purpose of the leave...

38 CFR 21.8340 - Leaves of absence.

Code of Federal Regulations, 2013 CFR

2013-07-01

... 38 Pensions, Bonuses, and Veterans' Relief 2 2013-07-01 2013-07-01 false Leaves of absence. 21... Vietnam Veterans and Veterans with Covered Service in Korea-Spina Bifida and Covered Birth Defects Leaves of Absence § 21.8340 Leaves of absence. (a) Purpose of leave of absence. The purpose of the leave...

38 CFR 21.8340 - Leaves of absence.

Code of Federal Regulations, 2014 CFR

2014-07-01

... 38 Pensions, Bonuses, and Veterans' Relief 2 2014-07-01 2014-07-01 false Leaves of absence. 21... Vietnam Veterans and Veterans with Covered Service in Korea-Spina Bifida and Covered Birth Defects Leaves of Absence § 21.8340 Leaves of absence. (a) Purpose of leave of absence. The purpose of the leave...

Clean Intermittent Catheterization in the School Setting

ERIC Educational Resources Information Center

Katrancha, Elizabeth D.

2008-01-01

Spina bifida (SB) is a neural tube defect that causes many physical and mental disabilities. Bowel and bladder incontinence is the disability seen most often in these students that requires the school nurse's attention. Clean intermittent catheterization (CIC) provides the student with SB a vehicle to reach a satisfactory level of continence,…

38 CFR 21.8014 - Application.

Code of Federal Regulations, 2014 CFR

2014-07-01

... Vietnam Veterans and Veterans with Covered Service in Korea-Spina Bifida and Covered Birth Defects General... child of a Vietnam veteran or veteran with covered service in Korea (or the child's parent or guardian... child's full name, address, and VA claim number, if any, and the parent Vietnam veteran or veteran with...

Frequently Asked Questions about Spina Bifida

MedlinePlus

... personal health records, go the The American Health Information Management Association ( www.myPHR.com ) and select ” Tools and Resources ” followed by ” PHR Tools and Services “. More information on what to include can also be found ...

Test Your Knowledge of Spina Bifida

MedlinePlus

... Emergency Preparedness & Response Environmental Health Healthy Living Injury, Violence & Safety Life Stages & Populations Travelers’ Health Workplace Safety & Health Features Media Sign up for Features Get Email Updates To ...

Type 2 Diabetes and Spina Bifida

MedlinePlus

... c-peptide; and fasting lipid panel. • Hemoglobin A1C test which indicates the body’s long term control of blood sugar Hemoglobin Levels Normal = less than 5.7% Pre-Diabetes = 5.7% – 6.4% Diabetes = 6.5% ...

Intradetrusor injections of botulinum toxin A in adult patients with spinal dysraphism.

PubMed

Peyronnet, Benoit; Even, Alexia; Capon, Grégoire; de Seze, Marianne; Hascoet, Juliette; Biardeau, Xavier; Baron, Maximilien; Perrouin-Verbe, Marie-Aimée; Boutin, Jean-Michel; Saussine, Christian; Phé, Véronique; Lenormand, Loic; Chartier-Kastler, Emmanuel; Cornu, Jean-Nicolas; Karsenty, Gilles; Manunta, Andrea; Schurch, Brigitte; Denys, Pierre; Amarenco, Gérard; Game, Xavier

2018-05-07

The aim of the present study was to report the outcomes of botulinum toxin A (BTX-A) intradetrusor injections in adult patients with spina bifida. All patients with spinal dysraphism who had undergone intradetrusor injections of BTX-A from 2002 to 2016 in 14 centers were included retrospectively. The primary endpoint was the global success of injections, defined subjectively as the combination of urgency, urinary incontinence and detrusor overactivity/low bladder compliance resolution. Univariate and multivariate analysis were performed to seek for predictors of global success. 125 patients were included with a global success rate of the first injection was 62.3% with resolution of urinary incontinence in 73.5% of patients. All urodynamic parameters improved significantly at 6-8 weeks compared to baseline including maximum detrusor pressure (-12 cmH2O; p<0.001), maximum cystometric capacity (+86.6 ml ; p<0.001) and compliance (+8.9 ml/cmH2O ; p=0.002). Out of 561 intradetrusor BTX-A injections, 20 complications were recorded (3.6%) with three muscular weaknesses. Global success rate of the first injection was significantly lower in case of poor compliance (34.4% vs. 86.9%; OR=0.08; p<0.001). In multivariate analysis, poor compliance was associated with lower global success rate (OR=0.13; p<0.001) and female gender (OR=3.53; p=0.01) and age (OR=39.9; p<0.001) were predictors of global success. Intradetrusor BTX-A injections were effective in adult spina bifida patients exhibiting detrusor overactivity. In contrast, the effectiveness was much lower in adult spina bifida patients with poor bladder compliance. The other predictors of global success were female gender and older age. Copyright © 2018 American Urological Association Education and Research, Inc. Published by Elsevier Inc. All rights reserved.

Parent and child experiences using a hydrophilic or reused PVC catheter for intermittent catheterisation.

PubMed

Chick, Hope E; Hunter, Kathleen F; Moore, Katherine N

2013-02-01

To highlight the challenges faced in adjusting to intermittent catheterisation for families and children affected by spina bifida. Toileting is a particular issue for children with spina bifida resulting in difficulty emptying their bladder. Management of incomplete emptying is intermittent catheterisation, which is now part of routine clinical care. The physical benefits of intermittent catheterisation are critical to renal health, and significant attention has been paid to this; less attention has been given to the personal aspects for the family or older child. A descriptive study of satisfaction with two products for intermittent catheterisation: polyvinyl chloride and hydrophilic catheters based on data obtained from a randomised controlled trial on urinary tract infections in catheter users. At the end of each of the polyvinyl chloride and hydrophilic study arms, parents or older children completed a 'Satisfaction Questionnaire' and then participated in a follow-up interview. Data were analysed for emerging themes. Three themes emerged: adjustment, ease of use and self-reliance. Key findings include: increased independence and confidence of the child catheterising using the hydrophilic catheter, self-management strategies to successfully manipulate the slippery hydrophilic catheter and reasons for the lack of success, and identification of participants who preferred polyvinyl chloride catheters. Descriptive data revealed potential areas where a hydrophilic catheter could improve the lives of the family and child as well as noting the need for user choice in product selection. Listening to the stories of children and families increases the nurse's ability to act as a guide as families struggle to assist their children in reaching their potential. Incontinence has been demonstrated to be the cause of self-isolation potentially leading to a decreased sense of self-worth. Ambulatory care nurses play a large role in helping families find the routine and resources

Prevention of Neural Tube Defects. ARC Q&A #101-45.

ERIC Educational Resources Information Center

Arc, Arlington, TX.

This fact sheet uses a question-and-answer format to summarize issues related to the prevention of neural tube defects. Questions and answers address the following topics: what neural tube defects are and the most common types (spina bifida and anencephaly); occurrence of neural tube defects during the first month of pregnancy; the frequency of…

38 CFR 21.8340 - Leaves of absence.

Code of Federal Regulations, 2010 CFR

2010-07-01

... 38 Pensions, Bonuses, and Veterans' Relief 2 2010-07-01 2010-07-01 false Leaves of absence. 21... Vietnam Veterans-Spina Bifida and Covered Birth Defects Leaves of Absence § 21.8340 Leaves of absence. (a... absence. The VR&E case manager may grant the child leaves of absence for periods during which the child...

How the contractualist account of preconception negligence undermines prenatal reproductive autonomy.

PubMed

Melanson, Glen

2013-08-01

Suppose a physician advises a woman to delay her planned pregnancy for a few months in order to significantly reduce the likelihood that her baby will suffer with Spina Bifida. If the woman chooses to ignore this advice and conceives soon after, I believe most people would consider it a matter of common sense that the child thus born is a victim of this woman's negligence, even if it is fortunate enough to not be burdened with Spina Bifida. This common sense judgement appeared to have been done in by the fact that the timing of conception can be identity-influencing, and so the child that is born only exists because of its mother's decision to ignore her physician's advice. However, recently, contemporary contractualist theories have been used to make sense of preconception negligence towards persons whose existence is a result of that same negligence. I will briefly discuss this interesting development and then show how this retrieval of the common sense judgement comes at a great cost to prenatal reproductive autonomy.

Inositol- and folate-resistant neural tube defects in mice lacking the epithelial-specific factor Grhl-3.

PubMed

Ting, Stephen B; Wilanowski, Tomasz; Auden, Alana; Hall, Mark; Voss, Anne K; Thomas, Tim; Parekh, Vishwas; Cunningham, John M; Jane, Stephen M

2003-12-01

The neural tube defects (NTDs) spina bifida and anencephaly are widely prevalent severe birth defects. The mouse mutant curly tail (ct/ct) has served as a model of NTDs for 50 years, even though the responsible genetic defect remained unrecognized. Here we show by gene targeting, mapping and genetic complementation studies that a mouse homolog of the Drosophila grainyhead (grh) gene, grainyhead-like-3 (Grhl3), is a compelling candidate for the gene underlying the curly tail phenotype. The NTDs in Grhl3-null mice are more severe than those in the curly tail strain, as the Grhl3 alleles in ct/ct mice are hypomorphic. Spina bifida in ct/ct mice is folate resistant, but its incidence can be markedly reduced by maternal inositol supplementation periconceptually. The NTDs in Grhl3-/- embryos are also folate resistant, but unlike those in ct/ct mice, they are resistant to inositol. These findings suggest that residual Grhl3 expression in ct/ct mice may be required for inositol rescue of folate-resistant NTDs.

Revision of Ascra with proposition of the bifida species group and description of two new species (Hemiptera: Pentatomidae: Edessinae).

PubMed

Santos, Bianca Tamires Silva Dos; Silva, Valeria Juliete Da; Fernandes, Jose Antonio Marin

2015-10-30

Edessa is comprised of six subgenera, Aceratodes, Ascra, Dorypleura, Edessa, Hypoxys and Pygoda. Ascra is here elevated to genus status based on characteristics of the male and female genitalia and the gibbous pronotum. This genus is comprised of eight species previously placed in Edessa-E. bifida, E. cordifera, E. petersii, E. abdita, E. championi, E. privata, E. conspersa and E. morbosa, as well as six new species. The genus Ascra was further divided into two groups of species bifida and privata separated by a different pattern of punctuation on body and pygophore. Here we present only the bifida species group formed by A. bifida, A. cordifera, A. petersii, A. abdita, and A. championi, as well as two new species-A. vluteum and A. flavoscutellata. Lectotypes of Aceratodes sigillatus, Edessa abdita, E. championi, E. cornuta, E. densata and E. petersii are designated. Aceratodes sigillatus, Edessa cornuta, E. densata, E. picata, and E. florida are considered junior synonyms of A. bifida. Interestingly, some species of this genus are considered edible in Mexico.

Training a Parent in Wheelchair Skills to Improve Her Child's Wheelchair Skills: A Case Study

ERIC Educational Resources Information Center

Kirby, R. Lee; Smith, Cher; Billard, Jessica L.; Irving, Jenny D. H.; Pitts, Janice E.; White, Rebecca S.

2010-01-01

We tested the hypothesis that training a parent in wheelchair-user and caregiver wheelchair skills would improve the child's wheelchair skills. We studied an 11-year-old girl with spina bifida and her mother. The mother received 4 training sessions averaging 42.5 minutes per session, over a period of 3 weeks. The total pre-training and, 4 weeks…

Living with a Handicap. Australian Early Childhood Resource Booklets, No. 3, 1981.

ERIC Educational Resources Information Center

Australian Early Childhood Association, Inc., Watson.

Autobiographical sketches of four Australians living with physical handicaps are presented in this Australian early childhood resource booklet. Life experiences in school and out are reported by a blind man, a young woman who was brain damaged due to injuries in an automobile accident, a mother of a child with spina bifida, and a Doctor of…

Factors Associated with Self-Worth in Young People with Physical Disabilities

ERIC Educational Resources Information Center

Antle, Beverley J.

2004-01-01

Having a positive sense of self is associated with success for children and adults, with and without disabilities. This article reports on a cross-sectional study examining the correlates of global self-worth for 85 young people (ages eight to 23) with spina bifida (a condition present at birth) or spinal cord injury (an acquired condition).…

Spirituality: A Coping Mechanism in the Lives of Adults with Congenital Disabilities

ERIC Educational Resources Information Center

Specht, Jacqueline A.; King, Gillian A.; Willoughby, Colleen; Brown, Elizabeth G.; Smith, Linda

2005-01-01

The purpose of this study was to gain insight into the perspective of individuals with congenital disabilities about spirituality as a coping mechanism during crucial times in their lives, Qualitative analysis of interviews assessing turning points in the lives of 15 adults (6 women and 9 men; M = 37 years) with spina bifida, cerebral palsy, or…

Cerebro-costo-mandibular syndrome: Report of two cases.

PubMed

Abdalla, Wael; Panigrahy, Ashok; Bartoletti, Stefano C

2011-01-01

Cerebro-costo-mandibular syndrome (CCMS) is a rare syndrome that includes a constellation of mandibular hypoplasia and posterior rib defects as its basic features. Additional features can include hearing loss, tracheal cartilage abnormalities, scoliosis, elbow hypoplasia, and spina bifida. Here we report two cases of CCMS and discuss the reported long-term outcome of the disease.

38 CFR 17.903 - Payment.

Code of Federal Regulations, 2010 CFR

2010-07-01

... Benefits for Certain Children of Vietnam Veterans-Spina Bifida and Covered Birth Defects § 17.903 Payment... the date the child was determined eligible for benefits under § 3.814 of this title. (ii) For covered birth defects, on or after December 1, 2001, and must have occurred on or after the date the child was...

Erector spinae plane block for analgesia after lower segment caesarean section: Case report.

PubMed

Yamak Altinpulluk, E; García Simón, D; Fajardo-Pérez, M

2018-05-01

Effective postoperative analgesia after emergency caesarean section is important because it provides early recovery, ambulation and breast-feeding. The ultrasound-guided erector spinae plane block has been orginally described for providing thoracic analgesia at the T5 transverse process by Forero et al. We performed post-operative bilateral erector spinae plane blocks with 20ml bupivacaine 0.25% at the level of the T9 transverse process in a pregnant woman after caesarean section. In this report, we described that bilateral erector spinae plane block at T9 level provides effective and long-lasting postoperative analgesia for lower abdominal surgery. Copyright © 2017 Sociedad Española de Anestesiología, Reanimación y Terapéutica del Dolor. Publicado por Elsevier España, S.L.U. All rights reserved.

Sexual function of young women with myelomeningocele.

PubMed

Gamé, Xavier; Moscovici, Jacques; Guillotreau, Julien; Roumiguié, Mathieu; Rischmann, Pascal; Malavaud, Bernard

2014-06-01

To assess the sexual function of young women with spina bifida and myelomeningocele and to determine the factors influencing their sexual function. A postal cross-sectional study using a self-administered questionnaire was performed in 44 women, mean age 27.66 ± 5.89 years, with spina bifida and myelomeningocele. The questionnaire included the Brief Index of Sexual Functioning for Women and questions about voiding mode, urinary symptoms, socioeconomic status, education level, lifestyle, and partnership. In parallel, data were also collected from the paediatric surgery records of patients who returned the questionnaire. The response rate was 56.8% (25/44). All domains of female sexual function (thoughts/desires, arousal, frequency of sexual activity, receptivity/initiation, pleasure/orgasm, relationship satisfaction) were altered. Urinary incontinence was likely to be the main factor responsible for altered sexual function and was associated with lower thoughts/desires, arousal, and receptivity/initiation scores. Wearing pads also constituted a limitation to achieving intimacy. Young myelomeningocele women report poor sexual functioning. The presence of urinary incontinence is associated with lower thoughts/desire, arousal, and receptivity/initiation. Copyright © 2013 Journal of Pediatric Urology Company. Published by Elsevier Ltd. All rights reserved.

Coexistence of congenital giant melanocytic nevus of the scalp with cranial defect, poliosis, and hair loss.

PubMed

Lee, Woo J; Lee, Sang M; Won, Chong H; Chang, Sung E; Lee, Mi W; Choi, Jee H; Moon, Kee C

2013-01-01

Congenital melanocytic nevi (CMN) are pigmented lesions presenting on the skin in approximately 1% of all newborns at or shortly after birth. CMN have been described as being associated with several anomalies, including cranial bone hypertrophy, scoliosis, and spina bifida. This is the first report to describe a giant congenital melanocytic nevus on the scalp associated with cranial involvement, poliosis, and alopecia. © 2013 Wiley Periodicals, Inc.

Food Additives Permitted for Direct Addition to Food for Human Consumption; Folic Acid. Final rule.

PubMed

2016-04-15

The Food and Drug Administration (FDA or we) is amending the food additive regulations to provide for the safe use of folic acid in corn masa flour. We are taking this action in response to a food additive petition filed jointly by Gruma Corporation, Spina Bifida Association, March of Dimes Foundation, American Academy of Pediatrics, Royal DSM N.V., and National Council of La Raza.

Effects of spine flexion and erector spinae maximal force on vertical squat jump height: a computational simulation study.

PubMed

Blache, Yoann; Monteil, Karine

2015-03-01

The purpose of this study was to evaluate the single and combined effects of initial spine flexion and maximal isometric force of the erector spinae on maximal vertical jump height during maximal squat jumping. Seven initial flexions of the 'thorax-head-arm' segment (between 20.1° and 71.6°) and five maximal isometric forces of the erector spinae (between 5600 and 8600 N) were tested. Thus, 35 squat jumps were simulated using a 2D simulation model of the musculoskeletal system. Vertical jump height varied at most about 0.094 and 0.021 m when the initial flexion of the 'thorax-head-arm' segment and the maximal force of the erector spinae were, respectively, maximal. These results were explained for the most part by the variation of total muscle work. The latter was mainly influenced by the work produced by the erector spinae which increased at most about 57 and 110 J when the initial flexion of the 'thorax-head-arm' segment and the maximal force of the erector spinae were, respectively, maximal. It was concluded that the increase in the initial flexion of the 'thorax-head-arm' segment and in the maximal isometric force of the erector spinae enables an increase in maximal vertical jump height during maximal squat jumping.

Earliest evidence for arthrogryposis multiplex congenita or Larsen syndrome?

PubMed

Anderson, T

1997-08-08

A sixteenth-century illustrated pamphlet from Great Britain suggests that documentary evidence may permit accurate diagnosis of pathological conditions in earlier societies. The document is of particular importance, since the presented congenital abnormalities, including cleft lip, spina bifida cystica, genu recurvatum, and talipes deformity are reported rarely in archaeological skeletal material. It is suggested that the combination of abnormalities may represent the earliest case of arthrogryposis multiplex congenita or Larsen syndrome.

An integrative computational approach for prioritization of genomic variants

DOE PAGES

Dubchak, Inna; Balasubramanian, Sandhya; Wang, Sheng; ...

2014-12-15

An essential step in the discovery of molecular mechanisms contributing to disease phenotypes and efficient experimental planning is the development of weighted hypotheses that estimate the functional effects of sequence variants discovered by high-throughput genomics. With the increasing specialization of the bioinformatics resources, creating analytical workflows that seamlessly integrate data and bioinformatics tools developed by multiple groups becomes inevitable. Here we present a case study of a use of the distributed analytical environment integrating four complementary specialized resources, namely the Lynx platform, VISTA RViewer, the Developmental Brain Disorders Database (DBDB), and the RaptorX server, for the identification of high-confidence candidatemore » genes contributing to pathogenesis of spina bifida. The analysis resulted in prediction and validation of deleterious mutations in the SLC19A placental transporter in mothers of the affected children that causes narrowing of the outlet channel and therefore leads to the reduced folate permeation rate. The described approach also enabled correct identification of several genes, previously shown to contribute to pathogenesis of spina bifida, and suggestion of additional genes for experimental validations. This study demonstrates that the seamless integration of bioinformatics resources enables fast and efficient prioritization and characterization of genomic factors and molecular networks contributing to the phenotypes of interest.« less

Association of neural tube defects in children of mothers with MTHFR 677TT genotype and abnormal carbohydrate metabolism risk: a case-control study.

PubMed

Cadenas-Benitez, N M; Yanes-Sosa, F; Gonzalez-Meneses, A; Cerrillos, L; Acosta, D; Praena-Fernandez, J M; Neth, O; Gomez de Terreros, I; Ybot-González, P

2014-03-26

Abnormalities in maternal folate and carbohydrate metabolism have both been shown to induce neural tube defects (NTD) in humans and animal models. However, the relationship between these two factors in the development of NTDs remains unclear. Data from mothers of children with spina bifida seen at the Unidad de Espina Bífida del Hospital Infantil Virgen del Rocío (case group) were compared to mothers of healthy children with no NTD (control group) who were randomly selected from patients seen at the outpatient ward in the same hospital. There were 25 individuals in the case group and 41 in the control group. Analysis of genotypes for the methylenetetrahydrofolate reductase (MTHFR) 677CT polymorphism in women with or without risk factors for abnormal carbohydrate metabolism revealed that mothers who were homozygous for the MTHFR 677TT polymorphism and at risk of abnormal carbohydrate metabolism were more likely to have offspring with spina bifida and high levels of homocysteine, compared to the control group. The increased incidence of NTDs in mothers homozygous for the MTHFR 677TT polymorphism and at risk of abnormal carbohydrate metabolism stresses the need for careful metabolic screening in pregnant women, and, if necessary, determination of the MTHFR 677CT genotype in those mothers at risk of developing abnormal carbohydrate metabolism.

A targeted sequencing panel identifies rare damaging variants in multiple genes in the cranial neural tube defect, anencephaly

PubMed Central

Cullup, T.; Boustred, C.; James, C.; Docker, J.; English, C.; Lench, N.; Copp, A.J.; Moore, G.E.; Greene, N.D.E.; Stanier, P.

2018-01-01

Neural tube defects (NTDs) affecting the brain (anencephaly) are lethal before or at birth, whereas lower spinal defects (spina bifida) may lead to lifelong neurological handicap. Collectively, NTDs rank among the most common birth defects worldwide. This study focuses on anencephaly, which despite having a similar frequency to spina bifida and being the most common type of NTD observed in mouse models, has had more limited inclusion in genetic studies. A genetic influence is strongly implicated in determining risk of NTDs and a molecular diagnosis is of fundamental importance to families both in terms of understanding the origin of the condition and for managing future pregnancies. Here we used a custom panel of 191 NTD candidate genes to screen 90 patients with cranial NTDs (n = 85 anencephaly and n = 5 craniorachischisis) with a targeted exome sequencing platform. After filtering and comparing to our in‐house control exome database (N = 509), we identified 397 rare variants (minor allele frequency, MAF < 1%), 21 of which were previously unreported and predicted damaging. This included 1 frameshift (PDGFRA), 2 stop‐gained (MAT1A; NOS2) and 18 missense variations. Together with evidence for oligogenic inheritance, this study provides new information on the possible genetic causation of anencephaly. PMID:29205322

Comparison of Thoracic and Lumbar Erector Spinae Muscle Activation Before and After a Golf Practice Session.

PubMed

Sorbie, Graeme G; Grace, Fergal M; Gu, Yaodong; Baker, Julien S; Ugbolue, Ukadike C

2017-08-01

Lower back pain is commonly associated with golfers. The study aimed: to determine whether thoracic- and lumbar-erector-spinae muscle display signs of muscular fatigue after completing a golf practice session, and to examine the effect of the completed practice session on club head speed, ball speed and absolute carry distance performance variables. Fourteen right-handed male golfers participated in the laboratory-based-study. Surface electromyography (EMG) data was collected from the lead and trail sides of the thoracic- and lumbar-erector-spinae muscle. Normalized root mean squared (RMS) EMG activation levels and performance variables for the golf swings were compared before and after the session. Fatigue was assessed using median frequency (MDF) and RMS during the maximum voluntary contraction (MVC) performed before and after the session. No significant differences were observed in RMS thoracic- and lumbar-erector-spinae muscle activation levels during the five phases of the golf swing and performance variables before and after the session (p > .05). Significant changes were displayed in MDF and RMS when comparing the MVC performed before and after the session (p < .05). Fatigue was evident in the trail side of the erector-spinae muscle after the session.

Gorlin-Goltz syndrome.

PubMed

Kohli, Munish; Kohli, Monica; Sharma, Naresh; Siddiqui, Saif Rauf; Tulsi, S P S

2010-01-01

Gorlin-Goltz syndrome is an inherited autosomal dominant disorder with complete penetrance and extreme variable expressivity. The authors present a case of an 11-year-old girl with typical features of Gorlin-Goltz syndrome with special respect to medical and dental problems which include multiple bony cage deformities like spina bifida with scoliosis having convexity to the left side, presence of an infantile uterus and multiple odonogenic keratocysts in the maxillofacial region.

Gorlin-Goltz syndrome

PubMed Central

Kohli, Munish; Kohli, Monica; Sharma, Naresh; Siddiqui, Saif Rauf; Tulsi, S.P.S.

2010-01-01

Gorlin-Goltz syndrome is an inherited autosomal dominant disorder with complete penetrance and extreme variable expressivity. The authors present a case of an 11-year-old girl with typical features of Gorlin-Goltz syndrome with special respect to medical and dental problems which include multiple bony cage deformities like spina bifida with scoliosis having convexity to the left side, presence of an infantile uterus and multiple odonogenic keratocysts in the maxillofacial region. PMID:22442551

Pediatric Neurosurgery Patients Need More than a Pediatric Neurosurgeon. Part II. A Clinical Report: In the USA Lack of Parent/Caregiver Compliance Interferes with the Patient Care Sequence.

PubMed

MacGregor, Teresa L; James, Hector E; Everett, Laurel; Childers, David O

2016-01-01

We have previously reported on the initiation, development, and preliminary results of a comprehensive multidisciplinary team for the long-term management of children with neurosurgical conditions other than spina bifida. This report addresses the follow-up of the care of these patients and identifies limitations in the care sequence including, but not limited to, lack of parental/caregiver compliance, unmet educational needs, and medical insurance issues. © 2016 S. Karger AG, Basel.

The Use of Liposomal Bupivacaine in Erector Spinae Plane Block to Minimize Opioid Consumption for Breast Surgery: A Case Report.

PubMed

Kumar, Amanda; Hulsey, Alina; Martinez-Wilson, Hector; Kim, James; Gadsden, Jeff

2018-05-01

The erector spinae plane block is a novel interfascial plane block that can provide thoracic and abdominal analgesia. We describe a patient with opioid intolerance scheduled for breast surgery who received an erector spinae plane block with liposomal bupivacaine as well as a supplemental T1 paravertebral block resulting in profound analgesia throughout her postoperative course. This case report demonstrates that use of liposomal bupivacaine in the erector spinae plane block can be successful in providing extended duration postoperative analgesia and minimizing systemic opioid requirements.

The Use of Liposomal Bupivacaine in Erector Spinae Plane Block to Minimize Opioid Consumption for Breast Surgery: A Case Report.

PubMed

Kumar, Amanda; Hulsey, Alina; Martinez-Wilson, Hector; Kim, James; Gadsden, Jeff

2017-11-16

The erector spinae plane block is a novel interfascial plane block that can provide thoracic and abdominal analgesia. We describe a patient with opioid intolerance scheduled for breast surgery who received an erector spinae plane block with liposomal bupivacaine as well as a supplemental T1 paravertebral block resulting in profound analgesia throughout her postoperative course. This case report demonstrates that use of liposomal bupivacaine in the erector spinae plane block can be successful in providing extended duration postoperative analgesia and minimizing systemic opioid requirements.

How Do Health Care Providers Diagnose Spina Bifida?

MedlinePlus

... NICHD Research Information Find a Study More Information Pharmacology Condition Information NICHD Research Information Find a Study ... an image scan such as an X-ray, MRI, or CT. « What causes it? Is there a ...

Surgery on Fetus Reduces Complications of Spina Bifida

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... Division of Intramural Research (DIR) Division of Intramural Population Health Research (DIPHR) Research Funded by NICHD Division of ... Research (DIR) Training in the Division of Intramural Population Health Research (DIPHR) Sample Applications Find a Program Officer ...

Haemangiomas and Associated Congenital Malformations in a Large Population-Based Sample of Infants

DTIC Science & Technology

2008-01-01

Clusters found to be associated with haemangioma were characterised by anomalies of the cervix, vagina, and external female genitalia, anophthalmia or...genitalia 2 228 55 (2.5) 2.23 ɘ.0001 Anophthalmia /microphthalmia 141 5 (3.5) 3.24 ɘ.01 Hydrocephalus without spina bifida 591 18 (3.0) 2.77 ɘ.0001...were characterised by: anomalies of the cervix, vagina and external female genitalia (OR = 2.23, P < 0.0001); anophthalmia or microphthalmia (OR = 3.24

Toxicological Assessment of ABATE (Tradename) (0,0,0’,0’-Tetramethyl-0,0’-Thio-Di-P-Phenylene Phosphorothioate) Administered Orally and Dermally to Mated and Nonmated Female Rabbits, April 1983.

DTIC Science & Technology

1983-11-02

such as gastroschisis, exencephaly, cleft palate ) are classified as abnormalities. Anomelies are considered to be minor varients from the normal, such as...and femurs not completely formed 1 Group VIII (IP-6-AN) 107 spina bifida 1 m microopthalmia 5 l cleft palate 3 0 talipes equinovarus 5 m... palate 1 m crantoschisis I m gastroschisis 1 webbed feet 1 m fused ribs 1 118 microopthalmia 3 m cleft palate 2 0 tallpes equtnovarus 1 0 120

Neurological deficits in the life and works of Frida Kahlo.

PubMed

Budrys, Valmantas

2006-01-01

World-famous Mexican painter Frida Kahlo is an impressive example of an artist whose entire life and creativity were extremely influenced by chronic, severe illness. Many of her best-known works depict her physical and mental suffering. She was one of those very uncommon artists who dared to show their nude, sick body. This article describes biographical events and works of Frida Kahlo that are closely related to neurology: congenital anomaly (spina bifida), poliomyelitis, spine injury, neuropathic pain.

Effects of seated posture on erector spinae EMG activity during whole body vibration.

PubMed

Zimmermann, C L; Cook, T M; Goel, V K

1993-06-01

The purpose of this study was to evaluate the electromyographic (EMG) response of the erector spinae to whole body vibration in three different unsupported seated postures: neutral upright, forward lean, and posterior lean. Subjects were 11 healthy college-age men. EMG was collected using bipolar surface electrodes placed bilaterally over the erector spinae at the L4 level. A modified chair with attached accelerometer was affixed to an induction type vibrator. Subjects were vibrated vertically at 4.5 Hz and 6.21 m.s-2 RMS. Data were collected in each of the three postures for 30 s pre- and post-vibration and for 2 min during vibration. Mean EMG values were determined for each sampling period and compared using ANOVA. The mean value for anterior lean was significantly larger (p < 0.05) than that for posterior lean and neutral. EMG data analysed by triggered averaging showed a phase-dependent response to the vibratory cycle for the forward leaning and neutral upright postures. The results of this study indicate that the magnitude of the vibration synchronous response of the erector spinae musculature is dependent upon body posture. This response may be an important factor in the onset of muscular fatigue and the increased incidence of back disorders among individuals exposed to whole body vibration.

Cytotoxicity of different extracts of arial parts of Ziziphus spina-christi on Hela and MDA-MB-468 tumor cells

PubMed Central

Jafarian, Abbas; Zolfaghari, Behzad; Shirani, Kobra

2014-01-01

Background: It has been shown that plants from the family Rhamnaceae possess anticancer activity. In this study, we sought to determine if Ziziphus spina-christi, a species from this family, has cytotoxic effect on cancer cell lines. Materials and Methods: Using maceration method, different extracts of leaves of Z. spina-christi were prepared. Hexane, chloroform, chloroform-methanol (9:1), methanol-water (7:1) methanol, butanol and water were used for extraction, after preliminary phytochemical analyses were done. The cytotoxic activity of the extracts against Hela and MDA-MB-468 tumor cells was evaluated by MTT assay. Briefly, cells were seeded in microplates and different concentrations of extracts were added. After incubation of cells for 72 h, their viability was evaluated by addition of tetrazolium salt solution. After 3 h medium was aspirated, dimethyl sulfoxide was added and absorbance was determined at 540 nm with an ELISA plate reader. Extracts were considered cytotoxic when more than 50% reduction on cell survival was observed. Results: Hexane, chloroform, chloroform-methanol, butanol, methanol-water and aqueous extracts of Z. spina-christi significantly and concentration-dependently reduced viability of Hela and MAD-MB-468 cells. In the both cell lines, chloroform-methanol extract of Z. spina-christi was more potent than the other extracts. Results: From the finding of this study it can be concluded that Z. spina-christi is a good candidate for further study for new cytotoxic agents. PMID:24627846

Risk comparison for prenatal use of analgesics and selected birth defects, National Birth Defects Prevention Study 1997-2011.

PubMed

Interrante, Julia D; Ailes, Elizabeth C; Lind, Jennifer N; Anderka, Marlene; Feldkamp, Marcia L; Werler, Martha M; Taylor, Lockwood G; Trinidad, James; Gilboa, Suzanne M; Broussard, Cheryl S

2017-10-01

To compare the use of nonsteroidal anti-inflammatory drugs (NSAIDs) and/or opioids to the use of acetaminophen without NSAIDs or opioids with respect to associations with birth defects. We used data from the National Birth Defects Prevention Study (1997-2011). Exposure was self-reported maternal analgesic use from the month before through the third month of pregnancy (periconceptional). Adjusted odds ratios (aORs) were calculated to examine associations with 16 birth defects. Compared to acetaminophen, mothers reporting NSAIDs were significantly more likely to have offspring with gastroschisis, hypospadias, cleft palate, cleft lip with cleft palate, cleft lip without cleft palate, anencephaly, spina bifida, hypoplastic left heart syndrome, pulmonary valve stenosis, and tetralogy of Fallot (aOR range, 1.2-1.6). Opioids were associated with tetralogy of Fallot, perimembranous ventricular septal defect, and ventricular septal defect with atrial septal defect (aOR range, 1.8-2.3), whereas use of both opioids and NSAIDs was associated with gastroschisis, cleft palate, spina bifida, hypoplastic left heart syndrome, and pulmonary valve stenosis (aOR range, 2.0-2.9). Compared to periconceptional use of acetaminophen, selected birth defects occurred more frequently among infants of women using NSAIDs and/or opioids. However, we could not definitely determine whether these risks relate to the drugs or to indications for treatment. Published by Elsevier Inc.

A targeted sequencing panel identifies rare damaging variants in multiple genes in the cranial neural tube defect, anencephaly.

PubMed

Ishida, M; Cullup, T; Boustred, C; James, C; Docker, J; English, C; Lench, N; Copp, A J; Moore, G E; Greene, N D E; Stanier, P

2018-04-01

Neural tube defects (NTDs) affecting the brain (anencephaly) are lethal before or at birth, whereas lower spinal defects (spina bifida) may lead to lifelong neurological handicap. Collectively, NTDs rank among the most common birth defects worldwide. This study focuses on anencephaly, which despite having a similar frequency to spina bifida and being the most common type of NTD observed in mouse models, has had more limited inclusion in genetic studies. A genetic influence is strongly implicated in determining risk of NTDs and a molecular diagnosis is of fundamental importance to families both in terms of understanding the origin of the condition and for managing future pregnancies. Here we used a custom panel of 191 NTD candidate genes to screen 90 patients with cranial NTDs (n = 85 anencephaly and n = 5 craniorachischisis) with a targeted exome sequencing platform. After filtering and comparing to our in-house control exome database (N = 509), we identified 397 rare variants (minor allele frequency, MAF < 1%), 21 of which were previously unreported and predicted damaging. This included 1 frameshift (PDGFRA), 2 stop-gained (MAT1A; NOS2) and 18 missense variations. Together with evidence for oligogenic inheritance, this study provides new information on the possible genetic causation of anencephaly. © 2017 The Authors. Clinical Genetics published by John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

A reappraisal of the anatomy of the human lumbar erector spinae.

PubMed Central

Bogduk, N

1980-01-01

In the lumbar region the longissimus thoracis and iliocostalis lumborum are separated by the erector spinae aponeurosis and its ventral reflection--the lumbar intermuscular aponeurosis. Lumbar fibres of the longissimus arise from the ilium and the lumbar intermuscular aponeurosis and insert into the accessory processes and proximal ends of the transverse processes of the lumbar vertebrae. Lumbar fibres of iliocostalis insert into the costal elements of the first four lumbar vertebrae. The lumbar insertions of these muscles are homologous to their thoracic insertions. The lumbar intermuscular aponeurosis is homologous to the lumbar intermuscular septum in the dog, cat and monkey. The details of attachment of the lumbar fibres of the erector spinae and of the lumbar intermuscular aponeurosis should be taken into account in biomechanical analyses of the lumbar vertebral column. Images Fig. 1(cont.) Fig. 1 Fig. 3 Fig. 4 Fig. 5 PMID:7216917

Erector spinae plane block for radical mastectomy: A new indication?

PubMed

Veiga, M; Costa, D; Brazão, I

2018-02-01

The erector spinae plane block is a technique recently described by Forero et al. in September 2016. It has applications in the control of chronic pain with neuropathic component of the chest wall, and for pain control in thoracoscopic surgery. In this article, we describe the use of this technique as part of a multimodal analgesic approach in a 40-year-old woman, who underwent radical mastectomy due to breast cancer. By performing this block before anesthetic induction, we have achieved an opioid sparing effect, avoiding a possible immunomodulatory effect, although not yet proven in humans. During hospitalization, the patient reported no pain (0/10 in numeric scale), without resorting to rescue analgesia. The easy, fast and safe execution of erector spinae plane block makes it a promising technique in the context of surgical pain during radical mastectomy. Copyright © 2017 Sociedad Española de Anestesiología, Reanimación y Terapéutica del Dolor. Publicado por Elsevier España, S.L.U. All rights reserved.

Trunk isometric force production parameters during erector spinae muscle vibration at different frequencies

PubMed Central

2013-01-01

Background Vibration is known to alter proprioceptive afferents and create a tonic vibration reflex. The control of force and its variability are often considered determinants of motor performance and neuromuscular control. However, the effect of vibration on paraspinal muscle control and force production remains to be determined. Methods Twenty-one healthy adults were asked to perform isometric trunk flexion and extension torque at 60% of their maximal voluntary isometric contraction, under three different vibration conditions: no vibration, vibration frequencies of 30 Hz and 80 Hz. Eighteen isometric contractions were performed under each condition without any feedback. Mechanical vibrations were applied bilaterally over the lumbar erector spinae muscles while participants were in neutral standing position. Time to peak torque (TPT), variable error (VE) as well as constant error (CE) and absolute error (AE) in peak torque were calculated and compared between conditions. Results The main finding suggests that erector spinae muscle vibration significantly decreases the accuracy in a trunk extension isometric force reproduction task. There was no difference between both vibration frequencies with regard to force production parameters. Antagonist muscles do not seem to be directly affected by vibration stimulation when performing a trunk isometric task. Conclusions The results suggest that acute erector spinae muscle vibration interferes with torque generation sequence of the trunk by distorting proprioceptive information in healthy participants. PMID:23919578

First record of Stenoheriades Cockerell in tropical Asia: Stenoheriades bifida, new species (Hymenoptera: Megachilidae)

USDA-ARS?s Scientific Manuscript database

The little known osmiine genus Stenoheriades, previously thought to be restricted to the Afrotropics and eastern Mediterranean, is here recorded from tropical Asia in the form of S. bifida, new species. This disjunct distribution adds to a growing list of endemic megachilids in southern India. The...

Effects of trajectory exercise using a laser pointer on electromyographic activities of the gluteus maximus and erector spinae during bridging exercises.

PubMed

Kim, Yu-Ri; Yoo, Won-Gyu

2016-01-01

[Purpose] The purpose of this study was to investigate activities of the hip extensors and erector spinae during bridging exercise by using instruments with a laser pointer on the pelvic belt. [Subjects] Twelve subjects (age, 23 to 33 years) with non-specific low back pain volunteered for this study. [Methods] Subjects performed bridging exercises with and without trajectory exercises by using a laser pointer fixed to a pelvic strap. The erector spinae, gluteus maximus and hamstring activities with and without trajectory exercises using a laser pointer were recorded on using electromyography. [Results] Compared to the without laser pointer group, the group that underwent bridging with trajectory exercises using a laser pointer had significantly higher gluteus maximus activity and significantly lower erector spinae activity. Significantly higher gluteus maximus/erector spinae activity ratios were observed when performing trajectory exercises using a laser pointer during bridging exercises. [Conclusion] This result suggests that trajectory exercises using a laser pointer during a bridging exercise would be effective for improving gluteus maximus activity.

Measurements of the trapezius and erector spinae muscles using virtual touch imaging quantification ultrasound-Elastography: a cross section study.

PubMed

Heizelmann, Anne; Tasdemir, Sümeyra; Schmidberger, Julian; Gräter, Tilmann; Kratzer, Wolfgang; Grüner, Beate

2017-08-25

This study uses virtual touch imaging quantification (VTIQ) technology for the first time to conduct measurements of the trapezius and erector spinae muscles in a large study population. The significance of various influencing factors, such as age and sex, are also examined. The study population comprised 278 subjects. The Siemens Acuson S3000 and VTIQ technology were used for measurements of the trapezius and erector spinae muscles (Siemens Healthcare, Erlangen, Germany). The following mean values ± standard deviation were calculated: left trapezius: males 2.89 ± 0.38 m/s, females 2.71 ± 0.37 m/s; right trapezius: males 2.84 ± 0.41 m/s, females 2.70 ± 0.38 m/s; left erector spinae: males 2.97 ± 0.50 m/s, females 2.81 ± 0.57 m/s; right erector spinae: males 3.00 ± 0.52 m/s, females 2.77 ± 0.59 m/s. A significant difference between male and female subjects was demonstrated both for the shear wave velocities of the trapezius and erector spinae as well as for the thickness of the trapezius muscle (p < 0.05). There was also a significant difference in muscle elasticity between subjects over 60 years of age and those under 60 (p < 0.05). Furthermore, the results indicate that regular physical activity has an effect on muscle elasticity. Our results demonstrate significantly different results between male and female subjects and between under- and over-sixty-year-old subjects. This means that sex-related and age-adapted considerations are obviously needed for further studies.

Major diagnostic and pathological features of iniencephaly based on twenty-four cases.

PubMed

Joó, József Gábor; Beke, Artúr; Papp, Csaba; Szigeti, Zsanett; Csaba, Akos; Papp, Zoltán

2008-01-01

Iniencephaly is quite a rare malformation the etiology of which is still not fully understood. In the majority of cases it is a grave and lethal condition. It is often complicated by other abnormalities affecting the central nervous system (spina bifida, anencephaly), but malformations involving other organs and systems may also be observed. Based on 24 cases the authors have surveyed the diagnostics of iniencephaly with special regard to the disorders affecting the central and non-central nervous systems. In addition, they have compared the results of prenatal diagnostics and pathological investigations. In the sample, maternal age ranged between 17 and 42 (median 24) years. Positive obstetrical-gynecological and genetic findings in the patients' history have been reported in 4 and 2 cases, respectively. In these cases, the maternal serum alpha-fetoprotein (AFP) values ranged between 0.7 and 3.9 (median 2.0) MoM, while the amniotic fluid AFP values were between 0.9 and 2.7 (median 1.4) MoM. Spina bifida (50%) and anencephaly (42%) were the most commonly occurring complications affecting the central nervous system. Among the non-central nervous system disorders, malformations of the abdominal (omphalocele) and thoracic walls (diaphragmatic hernia) were found most frequently and the tendency to develop associated polyhydramnios was also very high (75%). Pathological investigations revealed developmental disorders such as cleft lip and palate, ventricular septal defect and facial dysmorphism, which are difficult to detect using ultrasonography. Copyright 2008 S. Karger AG, Basel.

[Giant prostatic calculus with neurogenic bladder disease and prostate diverticulum: a case report and review of the literature].

PubMed

Li, Xiao-Shi; Quan, Chang-Yi; Li, Gang; Cai, Qi-Liang; Hu, Bin; Wang, Jiu-Wei; Niu, Yuan-Jie

2013-02-01

To study the etiology, clinical manifestation, diagnosis and treatment of giant prostatic calculus with neurogenic bladder disease and prostate diverticulum. We retrospectively analyzed the clinical data of a case of giant prostatic calculus with neurogenic bladder disease and prostate diverticulum and reviewed the relevant literature. The patient was a 37-year-old man, with urinary incontinence for 22 years and intermittent dysuria with frequent micturition for 9 years, aggravated in the past 3 months. He had received surgery for spina bifida and giant vesico-prostatic calculus. The results of preoperative routine urinary examination were as follows: WBC 17 -20/HPF, RBC 12 - 15/HPF. KUB, IVU and pelvic CT revealed spina bifida occulta, neurogenic bladder and giant prostatic calculus. The patient underwent TURP and transurethral lithotripsy with holmium-YAG laser. The prostatic calculus was carbonate apatite in composition. Urinary dynamic images at 2 weeks after surgery exhibited significant improvement in the highest urine flow rate and residual urine volume. Seventeen months of postoperative follow-up showed dramatically improved urinary incontinence and thicker urine stream. Prostate diverticulum with prostatic giant calculus is very rare, and neurogenic bladder may play a role in its etiology. Cystoscopy is an accurate screening method for its diagnosis. For the young patients and those who wish to retain sexual function, TURP combined with holmium laser lithotripsy can be employed, and intraoperative rectal examination should be taken to ensure complete removal of calculi.

Review of the efficacy and safety of transanal irrigation for neurogenic bowel dysfunction.

PubMed

Emmanuel, A

2010-09-01

Neurogenic bowel dysfunction (NBD) is a common occurrence after spinal cord injury (SCI) and in patients with spina bifida or multiple sclerosis. The impact of NBD on well-being is considerable, affecting both physical and psychological aspects of quality of life. Transanal irrigation (TAI) of the colon promotes the evacuation of faeces by introducing water into the colon and rectum through a catheter inserted into the anus. Regular and controlled evacuation in this manner aims at preventing both constipation and faecal soiling. The aim of this study was to review current evidence for the efficacy and safety of TAI in patients with NBD. A literature search was conducted in PubMed. All identified papers were assessed for relevance based on the title and abstract; this yielded 23 studies that were considered to be of direct relevance to the topic of the review. A multicentre, randomized, controlled trial has supported observational reports in demonstrating that TAI offers significant benefits over conservative bowel management in patients with SCI, in terms of managing constipation and faecal incontinence, reducing NBD symptoms and improving quality of life. Among other populations with NBD, TAI shows the greatest promise in children with spina bifida; however, further investigation is required. The overall safety profile of TAI is good, with few, and rare, adverse effects. Building on the positive data reported for patients with SCI, continued evaluation in the clinical trial setting is required to further define the utility of TAI in other populations with NBD.

Spondylolisthesis in an Etruscan woman from Spina (Ferrara, Italy): an iron age case report.

PubMed

Manzon, Vanessa Samantha; Onisto, Nicoletta; Gualdi-Russo, Emanuela

2014-06-01

Spondylolisthesis consists of the slippage of a vertebra in relation to the one beneath. It is caused by separation of the neural arch from the vertebral body (spondylolysis), and predominantly occurs at the isthmus (pars interarticularis). Originally thought to be a congenital anomaly, its strict correlation with certain activities that seem to exert stress on lower spine was later demonstrated. This paper describes a case of progression of spondylolysis to spondylolisthesis found on an adult female skeleton from the Etruscan necropolis of Spina (Ferrara, Italy). The case in question was identified among 209 skeletons exhumed at Spina. As spondylolisthesis is strictly connected with activities that exert stress on lower spine, the evidence suggests that this woman was engaged in stressful physical activity, perhaps related to the specific trade function of the site.

Rare association of spondylo costal dysostosis with split cord malformations type II: A case report and a brief review of literature

PubMed Central

Srinivas, Bhavanam Hanuma; Puligopu, Aneel Kumar; Sukhla, Dinesh; Ranganath, Prajnya

2014-01-01

Spondylo costal dysostosis (SCD) is a genetic skeletal disorder characterized by a variety of costo-vertebral malformations. SCD with type I split cord malformation (SCM) have been reported in the literature. We report an unusual association of SCD with type II SCM. Imaging studies revealed multiple vertebral segmentations, rib malformations, spina bifida and low lying cord with type II SCM at the D12-L3 level. She underwent detethering of the cord. To the best of our knowledge, this is the first report of the association of SCD with type II SCM. PMID:25250070

A Tale of Two Tails: Not Just Skin Deep

PubMed Central

Dutta, Abhijit; Ghosh, Sudip Kumar; Mandal, Asok Kumar

2015-01-01

The dorsal cutaneous appendage or the so called human tail is a rare congenital anomaly protruding from the lumbo-sacro-coccygeal area. These caudal appendages are divided into true-tails and pseudo-tails. We report here two cases of congenital pseudo-tail with underlying spina bifida and lipo-meningocele. In this article we seek to emphasize that, as the skin and nervous systems are intimately linked by their similar ectodermal origin, a dorsal appendage may be regarded as a cutaneous marker of the underlying spinal dysraphism. PMID:26288414

Clinical studies on teenage Brazilian victims of thalidomide.

PubMed

Schmidt, M; Salzano, F M

1983-07-01

Ninety-three Brazilian teenagers with thalidomide embryopathy were studied. The pattern of distribution of their most significant defect was: upper limbs, 66; lower limbs, 8; all four limbs, 12; head, 7. Only 10 individuals presented the major defect unilaterally. In 30 of 83 with bilateral defects there were differences in severity between the two sides. Of the 31 patients whose spines had been X-rayed, 16 showed defects, the most common being spina bifida occulta at S1. Gynecomasty was found in three of the patients having major upper limb defects.

Reducing risk of pressure sores: effects of watch prompts and alarm avoidance on wheelchair push-ups.

PubMed Central

White, G W; Mathews, R M; Fawcett, S B

1989-01-01

People who use wheelchairs are at risk for developing pressure sores. Regular pressure relief, in the form of a wheelchair push-up, is one way to reduce the likelihood of pressure sores. We examined the effects of antecedent (i.e., instructions, audible prompts) and consequent (i.e., alarm avoidance) events on wheelchair push-ups, using a multiple baseline analysis with 2 participants with spina bifida. Results suggest that the combined procedure was more effective than either antecedent or consequent events alone, and there is some evidence suggesting maintenance of effects over time. PMID:2793635

Frida Kahlo's neurological deficits and her art.

PubMed

Budrys, Valmantas

2013-01-01

World-famous Mexican painter Frida Kahlo is an impressive example of a professional artist whose artistic subject matter was extremely influenced by her chronic, severe illness. Many of her best-known works depict her physical and mental suffering. She was one of those very uncommon artists who dared to show their nude, sick body. This chapter describes and explains the biographical events and works of Frida Kahlo that are closely related to neurology: congenital anomaly (spina bifida), poliomyelitis, spine injury, and neuropathic pain. © 2013 Elsevier B.V. All rights reserved.

Determination of the motor unit behavior of lumbar erector spinae muscles through surface EMG decomposition technology in healthy female subjects.

PubMed

Silva, Mariana Felipe; Dias, Josilainne Marcelino; Pereira, Ligia Maxwell; Mazuquin, Bruno Fles; Lindley, Steven; Richards, Jim; Cardoso, Jefferson Rosa

2017-01-01

The aims of this study were to determine the motor unit behavior of the erector spinae muscles and to assess whether differences exist between the dominant/nondominant sides of the back muscles. Nine healthy women, aged 21.7 years (SD = 0.7), performed a back extension test. Surface electromyographic decomposition data were collected from both sides of the erector spinae and decomposed into individual motor unit action potential trains. The mean firing rate for each motor unit was calculated, and a regression analysis was performed against the corresponding recruitment thresholds. The mean firing rate ranged from 15.9 to 23.9 pps and 15.8 to 20.6 pps on the dominant and nondominant sides, respectively. However, the early motor unit potentials of the nondominant lumbar erector spinae muscles were recruited at a lower firing rate. This technique may further our understanding of individuals with back pain and other underlying neuromuscular diseases. Muscle Nerve 55: 28-34, 2017. © 2016 Wiley Periodicals, Inc.

Adverse pregnancy outcomes around incinerators and crematoriums in Cumbria, north west England, 1956–93

PubMed Central

Dummer, T; Dickinson, H; Parker, L

2003-01-01

Study objective: To investigate the risk of stillbirth, neonatal death, and lethal congenital anomaly among babies of mothers living close to incinerators and crematoriums in Cumbria, north west England, 1956–93. Design: Retrospective cohort study. Logistic regression was used to investigate the risk of each outcome in relation to proximity at birth to incinerators and crematoriums, adjusting for social class, year of birth, birth order, and multiple births. Continuous odds ratios for trend with proximity to sites were estimated. Setting: All 3234 stillbirths, 2663 neonatal deaths, and 1569 lethal congenital anomalies among the 244 758 births to mothers living in Cumbria, 1956–1993. Main results: After adjustment for social class, year of birth, birth order, and multiple births, there was an increased risk of lethal congenital anomaly, in particular spina bifida (odds ratio 1.17, 95% CI: 1.07 to 1.28) and heart defects (odds ratio 1.12, 95% CI: 1.03 to 1.22) around incinerators and an increased risk of stillbirth (odds ratio 1.04, 95% CI: 1.01 to 1.07) and anencephalus (odds ratio 1.05, 95% CI: 1.00 to 1.10) around crematoriums. Conclusions: The authors cannot infer a causal effect from the statistical associations reported in this study. However, as there are few published studies with which to compare our results, the risk of spina bifida, heart defects, stillbirth, and anencephalus in relation to proximity to incinerators and crematoriums should be investigated further, in particular because of the increased use of incineration as a method of waste disposal. PMID:12775795

Neural tube defects – disorders of neurulation and related embryonic processes

PubMed Central

Copp, Andrew J.; Greene, Nicholas D. E.

2014-01-01

Neural tube defects (NTDs) are severe congenital malformations affecting 1 in every 1000 pregnancies. ‘Open’ NTDs result from failure of primary neurulation as seen in anencephaly, myelomeningocele (open spina bifida) and craniorachischisis. Degeneration of the persistently open neural tube in utero leads to loss of neurological function below the lesion level. ‘Closed’ NTDs are skin-covered disorders of spinal cord structure, ranging from asymptomatic spina bifida occulta to severe spinal cord tethering, and usually traceable to disruption of secondary neurulation. ‘Herniation’ NTDs are those in which meninges, with or without brain or spinal cord tissue, become exteriorised through a pathological opening in the skull or vertebral column (e.g. encephalocele and meningocele). NTDs have multifactorial etiology, with genes and environmental factors interacting to determine individual risk of malformation. While over 200 mutant genes cause open NTDs in mice, much less is known about the genetic causation of human NTDs. Recent evidence has implicated genes of the planar cell polarity signalling pathway in a proportion of cases. The embryonic development of NTDs is complex, with diverse cellular and molecular mechanisms operating at different levels of the body axis. Molecular regulatory events include the BMP and Sonic hedgehog pathways which have been implicated in control of neural plate bending. Primary prevention of NTDs has been implemented clinically following the demonstration that folic acid, when taken as a peri-conceptional supplement, can prevent many cases. Not all NTDs respond to folic acid, however, and adjunct therapies are required for prevention of this folic acid-resistant category. PMID:24009034

Thymidylate synthase repeat polymorphisms and risk of neural tube defects in a population from the northern United Kingdom.

PubMed

Wilding, Craig S; Relton, Caroline L; Sutton, Matthew J; Jonas, Pat A; Lynch, Sally-Ann; Tawn, E Janet; Burn, John

2004-07-01

A 28-bp repeat polymorphism in the 5'UTR of the thymidylate synthase (TYMS) gene represents a candidate risk factor for neural tube defects (NTDs) due to involvement in folate-dependent homocysteine metabolism. Non-Hispanic, white, U.S. citizens carrying at least one 2x 28-bp repeat allele have recently been shown to be at a four-fold increased risk of spina bifida (SB). We investigated the association between this polymorphism and risk of NTD in families affected by NTDs and controls from the northern United Kingdom (UK). PCR was performed on genomic DNA extracted from blood or mouth swabs of family members affected by NTDs (mothers, fathers, and cases), and unaffected controls (mothers and infants) to determine the number of 28-bp repeat units within the promoter region of TYMS. Case-control and TDT analyses of the influence of TYMS genotype on risk of NTD, or NTD pregnancy, were conducted. Odds ratio (OR) analysis indicated that individuals carrying the 2x 28-bp repeat allele either in homozygous or heterozygous form, are not at increased risk of NTDs, or of having an NTD affected pregnancy. Control population allele frequencies are seen to be markedly different between the U.S. controls and those in this study. TYMS polymorphism appears to be not universally associated with NTD risk across Caucasian samples. The elevated risk of spina bifida in U.S. samples appears to be driven by an unusually low risk allele (2x 28 bp) frequency in control samples. Family based (TDT) testing of U.S. samples is therefore advocated.

Low carbohydrate diets may increase risk of neural tube defects.

PubMed

Desrosiers, Tania A; Siega-Riz, Anna Maria; Mosley, Bridget S; Meyer, Robert E

2018-01-25

Folic acid fortification significantly reduced the prevalence of neural tube defects (NTDs) in the United States. The popularity of "low carb" diets raises concern that women who intentionally avoid carbohydrates, thereby consuming fewer fortified foods, may not have adequate dietary intake of folic acid. To assess the association between carbohydrate intake and NTDs, we analyzed data from the National Birth Defects Prevention Study from 1,740 mothers of infants, stillbirths, and terminations with anencephaly or spina bifida (cases), and 9,545 mothers of live born infants without a birth defect (controls) conceived between 1998 and 2011. Carbohydrate and folic acid intake before conception were estimated from food frequency questionnaire responses. Restricted carbohydrate intake was defined as ≤5th percentile among controls. Odds ratios were estimated with logistic regression and adjusted for maternal race/ethnicity, education, alcohol use, folic acid supplement use, study center, and caloric intake. Mean dietary intake of folic acid among women with restricted carbohydrate intake was less than half that of other women (p < .01), and women with restricted carbohydrate intake were slightly more likely to have an infant with an NTD (AOR = 1.30, 95% CI: 1.02, 1.67). This is the first study to examine the association between carbohydrate intake and NTDs among pregnancies conceived postfortification. We found that women with restricted carbohydrate intake were 30% more likely to have an infant with anencephaly or spina bifida. However, more research is needed to understand the pathways by which restricted carbohydrate intake might increase the risk of NTDs. © 2018 Wiley Periodicals, Inc.

Periconceptional nutrient intakes and risks of neural tube defects in California.

PubMed

Carmichael, Suzan L; Yang, Wei; Shaw, Gary M

2010-08-01

This study investigated the association of neural tube defects (NTDs) with maternal periconceptional intake of folic acid-containing supplements and dietary nutrients, including folate, among deliveries that occurred after folic acid fortification in selected California counties. The population-based case-control study included fetuses and live born infants with spina bifida (189) or anencephaly (141) and 625 nonmalformed, live born controls delivered from 1999 to 2003. Mothers reported supplement use during telephone interviews, which included a 107-item food frequency questionnaire. For dietary nutrients, intakes <25th, 25th to <75th (reference), and > or =75th percentile were compared, based on control distributions. After adjustment for potential confounders, any versus no supplement intake resulted in ORs of 0.8 (95% CI, 0.5-1.3) for anencephaly and 0.8 (95% CI, 0.6-1.2) for spina bifida. After stratification by maternal intake of vitamin supplements, most factors in the glycemic pathway were not associated with either NTD, with the exception of low levels of fructose and glucose that were significantly associated with anencephaly. Some nutrients that contribute to one-carbon metabolism showed lowered risks (folate, riboflavin, vitamins B(6) and B(12)); others did not (choline, methionine, zinc). Antioxidant nutrients tended to be associated with lowered risks (vitamins C, E, A, beta-carotene, lutein). Mothers' intake of vitamin supplements was modestly if at all associated with a lowered risk of NTDs. Dietary intake of several nutrients contributing to one-carbon metabolism and oxidative stress were associated with reduced NTD risk.

What Are the Treatments for Spina Bifida and Related Conditions?

MedlinePlus

... they may use braces, crutches, walkers, or wheelchairs. Urinary Tract Infections, Lack of Bladder and Bowel Control People with ... from completely emptying, a condition that can cause urinary tract infections and kidney damage. The child or parent can ...

Relationship Between Erectores Spinae Voltage and Back-Lift Strength for Isometric, Concentric, and Eccentric Contractions

ERIC Educational Resources Information Center

Ashton, T. Edwin J.; Singh, Mohan

1975-01-01

This study determined the maximal mean values for concentric and eccentric back-lift strength as well as isometric, and examined and compared the relationships between the mean peak voltage of the erectores spinae muscle(s) and maximal force exerted for the three types of muscle contractions. (RC)

First case of Pseudoclavibacter bifida bacteremia in an immunocompromised host with chronic obstructive pulmonary disease (COPD).

PubMed

Oyaert, Matthijs; De Baere, Thierry; Breyne, Joke; De Laere, Emmanuel; Mariën, Stan; Waets, Peter; Laffut, Wim

2013-06-01

Pseudoclavibacter spp. are Gram-positive, aerobic, catalase-positive, coryneform bacteria belonging to the family of Microbacteriaceae. Identification of these species with conventional biochemical assays is difficult. This case report of a Pseudoclavibacter bifida bacteremia occurring in an immunocompromised host diagnosed with an acute exacerbation of chronic obstructive pulmonary disease, with a lethal outcome, confirms that this organism may be a human pathogen.

Successful endoscopic third ventriculostomy in children depends on age and etiology of hydrocephalus: outcome analysis in 51 pediatric patients.

PubMed

Duru, Soner; Peiro, Jose L; Oria, Marc; Aydin, Emrah; Subasi, Canan; Tuncer, Cengiz; Rekate, Harold L

2018-04-25

Endoscopic third ventriculostomy (ETV) has become the method of choice in the treatment of hydrocephalus. Age and etiology could determine success rates (SR) of ETV. The purpose of this study is to assess these factors in pediatric population. Retrospective study on 51 children with obstructive hydrocephalus that underwent ETV was performed. The patients were divided into three groups per their age at the time of the treatment: < 6, 6-24, and > 24 months of age. All ETV procedures were performed by the same neurosurgeon. Overall SR of ETV was 80% (40/51) for all etiologies and ages. In patients < 6 months of age SR was 56.2% (9/16), while 6-24 months of age was 88.9% (16/18) and > 24 months was 94.1% (16/17) (p = 0.012). The highest SR was obtained on aqueductal stenosis. SR of posthemorrhagic, postinfectious, and spina bifida related hydrocephalus was 60% (3/5), 50% (1/2), and 14.3% (1/7), respectively. While SR rate at the first ETV attempt was 85.3%, it was 76.9% in patients with V-P shunt performed previously (p = 0.000). Factors indicating a potential failure of ETV were young age and etiology such as spina bifida, other than isolated aqueductal stenosis. ETV is the method of choice even in patients with former shunting. Fast healing, distensible skulls, and lower pressure gradient in younger children, all can play a role in ETV failure. Based on our experience, ETV could be the first method of choice for hydrocephalus even in children younger than 6 months of age.

Air pollution, neighborhood acculturation factors, and neural tube defects among Hispanic women in California.

PubMed

Padula, Amy M; Yang, Wei; Carmichael, Suzan L; Lurmann, Frederick; Balmes, John; Hammond, S Katharine; Shaw, Gary M

2017-04-03

Neural tube defects (NTDs) are one of the most common types of birth defects. Environmental pollutants and acculturation have been associated with NTDs independently. The potential effect modification of acculturation in the relationship between ambient air pollution and risks of NTDs is not well understood. We investigated whether associations between traffic-related air pollutant exposure in early gestation and NTDs, and more specifically spina bifida, were modified by individual and neighborhood acculturation factors among 139 cases and 466 controls born in the San Joaquin Valley of California, 1997 to 2006. Five criteria pollutant exposures in tertiles, two outcomes, and seven neighborhood acculturation factors from the U.S. Census at the block group level were included for a total of 280 investigated associations. Estimates were adjusted for maternal education and multivitamin use in the first 2 months of pregnancy. Additional analyses were stratified by nativity. Increased odds of NTDs were observed for individuals who had high exposures to carbon monoxide, nitrogen oxide, or nitrogen dioxide and lived in neighborhoods that were more acculturated. Conversely, there were increased odds of NTDs for those who had high prenatal exposure to PM 10 and lived in neighborhoods that were less acculturated. The results of spina bifida alone were generally stronger in magnitude. When stratified by individual nativity (U.S.- vs. foreign-born), carbon monoxide, nitrogen oxide, and nitrogen dioxide were more strongly associated with NTDs among U.S.-born Hispanic mothers. Neighborhood acculturation factors were modifiers of the relationship between air pollution and NTDs in California, though not in a consistent direction for all pollutants. Birth Defects Research 109:403-422, 2017. © 2017 Wiley Periodicals, Inc. © 2017 Wiley Periodicals, Inc.

Air Pollution, Neighborhood Acculturation Factors, and Neural Tube Defects Among Hispanic Women in California

PubMed Central

Padula, Amy M.; Yang, Wei; Carmichael, Suzan L.; Lurmann, Frederick; Balmes, John; Hammond, S. Katharine; Shaw, Gary M.

2017-01-01

Background Neural tube defects (NTDs) are one of the most common types of birth defects. Environmental pollutants and acculturation have been associated with NTDs independently. The potential effect modification of acculturation in the relationship between ambient air pollution and risks of NTDs is not well understood. Methods We investigated whether associations between traffic-related air pollutant exposure in early gestation and NTDs, and more specifically spina bifida, were modified by individual and neighborhood acculturation factors among 139 cases and 466 controls born in the San Joaquin Valley of California, 1997 to 2006. Five criteria pollutant exposures in tertiles, two outcomes, and seven neighborhood acculturation factors from the U.S. Census at the block group level were included for a total of 280 investigated associations. Estimates were adjusted for maternal education and multivitamin use in the first 2 months of pregnancy. Additional analyses were stratified by nativity. Results Increased odds of NTDs were observed for individuals who had high exposures to carbon monoxide, nitrogen oxide, or nitrogen dioxide and lived in neighborhoods that were more acculturated. Conversely, there were increased odds of NTDs for those who had high prenatal exposure to PM10 and lived in neighborhoods that were less acculturated. The results of spina bifida alone were generally stronger in magnitude. When stratified by individual nativity (U.S.- vs. foreign-born), carbon monoxide, nitrogen oxide, and nitrogen dioxide were more strongly associated with NTDs among U.S.-born Hispanic mothers. Conclusion Neighborhood acculturation factors were modifiers of the relationship between air pollution and NTDs in California, though not in a consistent direction for all pollutants. PMID:28398703

Comparison of the Electromyographic Activation Level and Unilateral Selectivity of Erector Spinae during Different Selected Movements

ERIC Educational Resources Information Center

Guo, Lan-Yuen; Wang, Yu-Lin; Huang, Yu-Han; Yang, Chich-Haung; Hou, Yi-You; Harn, Hans I-Chen; You, Yu-Lin

2012-01-01

For patients with scoliosis, core stabilization exercises may be beneficial in improving muscle strength and trunk dynamic control. However, few studies have examined whether the erector spinae (ES) activation status during unilateral spinal extensor strengthening meets the guideline for patients with spinal scoliosis. To determine ES activation…

Folic before frolic.

PubMed

Austin, Martine

2012-10-01

In 1991 studies confirmed that taking folic acid both prior to conception and during the early stages of pregnancy could help reduce the risk of neural tube defects (NTDs) like spina bifida by up to 72 per cent (Medical Research Council (MRC) 1991). Yet despite this knowledge, very little has been done to promote awareness of this in the UK since the mid 1990s, and recent studies show that awareness and intake of folic acid are low. This article introduces a new initiative which aims to boost women's awareness (and most importantly uptake) of folic acid, and highlights the important role midwives can play in creating and maintaining this awareness.

Electromyographic activity of the erector spinae: The short-effect of one workday for welders with nonspecific chronic low back pain, an observational study.

PubMed

Mendes, André Augusto M T; de Freitas, Sandra Maria Sbeghen Ferreira; Amorin, César Ferreira; Cabral, Cristina Maria Nunes; Padula, Rosimeire Simprini

2018-02-06

This study aimed to evaluate the effect of one workday on pain and perceived exertion, muscular strength, and electromyographic activity of the erector spinae muscles in welders with and without low back pain. This is an observational cohort study. Twenty-two welders, metallurgical shipbuilding, were equally divided into 2 groups: low back pain and no low back pain. Pain and perceived exertion. Muscular strength by maximal voluntary contractions and electromyographic activity of right and left erector spinae muscles during maximal voluntary contractions and in the 3 welding positions for 2 periods of the workday (in the morning and at the end of the workday). At the end of workday, the pain increased significantly for the low back pain group (t(22) = 2.448; P= 0.023). The perceived exertion also increased significantly for both groups at the end of workday groups (F(1,22) = 8.570, P= 0.000) and periods (F(1,22) = 8.142, P= 0.000). There were no significant differences between groups and workday periods for muscular strength and electromyographic activity during maximal voluntary contractions of the erector spinae. There was no significance difference for electromyographic activity between groups and workday period and in the 3 welding positions. Although the pain and perceived exertion increased at the end of the workday, these results did not interfere in muscular strength and electromyographic activity of right and left erector spinae muscles. Thus, we can conclude that welders with chronic low back pain had a good physical capacity (muscular strength) and that muscle performance was maintained.

Early numeracy skills in preschool-aged children: a review of neurocognitive findings and implications for assessment and intervention.

PubMed

Raghubar, Kimberly P; Barnes, Marcia A

2017-02-01

The goals are to (1) provide a review of the typical and atypical development of early numeracy; (2) present what is known about the neurocognitive underpinnings of early numeracy; and (3) discuss the implications for early assessment and intervention. Studies on the development of typical and atypical early numeracy are reviewed with a particular focus on longitudinal findings including those from our work on spina bifida myelomeningocele. Implications of this research for assessment are presented. The paper ends with a discussion of early math interventions. Learning to count, identify numbers, and compare and manipulate quantities are key early numeracy skills. These are powerful predictors of school-age mathematical learning and performance. General neurocognitive abilities such as working memory and language, are also important for the development of early numeracy. It is recommended that early assessment for risk of mathematical learning difficulties include tests of both early number knowledge and key neurocognitive abilities. Math-specific interventions are most effective for improving early numeracy. There is currently little evidence that training of general cognitive functions transfers to mathematical learning. Understanding the development of early numeracy skills and their neurocognitive predictors offer important insights into early assessment and intervention for children at risk for or with mathematical learning difficulties.

Adhesive complex coacervate inspired by the sandcastle worm as a sealant for fetoscopic defects

NASA Astrophysics Data System (ADS)

Kaur, Sarbjit

Inspired by the Sandcastle Worm, biomimetic of the water-borne adhesive was developed by complex coacervation of the synthetic copolyelectrolytes, mimicking the chemistries of the worm glue. The developed underwater adhesive was designed for sealing fetal membranes after fetoscopic surgery in twin-to-twin transfusion syndrome (TTTS) and sealing neural tissue of a fetus in aminiotic sac for spina bifida condition. Complex coacervate with increased bond strength was created by entrapping polyethylene glycol diacrylate (PEG-dA) monomer within the cross-linked coacervate network. Maximum shear bond strength of ~ 1.2 MPa on aluminum substrates was reached. The monomer-filled coacervate had complex flow behavior, thickening at low shear rates and then thinning suddenly with a 16-fold drop in viscosity at shear rates near 6 s-1. The microscale structure of the complex coacervates resembled a three-dimensional porous network of interconnected tubules. This complex coacervate adhesive was used in vitro studies to mimic the uterine wall-fetal membrane interface using a water column with one end and sealed with human fetal membranes and poultry breast, and a defect was created with an 11 French trocar. The coacervate adhesive in conjunction with the multiphase adhesive was used to seal the defect. The sealant withstood an additional traction of 12 g for 30-60 minutes and turbulence of the water column without leakage of fluid or slippage. The adhesive is nontoxic when in direct contact with human fetal membranes in an organ culture setting. A stable complex coacervate adhesive for long-term use in TTTS and spina bifida application was developed by methacrylating the copolyelectrolytes. The methacrylated coacervate was crosslinked chemically for TTTS and by photopolymerization for spina bifida. Tunable mechanical properties of the adhesive were achieved by varying the methacrylation of the polymers. Varying the amine to phosphate (A/P) ratio in the coacervate formation

The ethnobotany of Christ's Thorn Jujube (Ziziphus spina-christi) in Israel

PubMed Central

Dafni, Amots; Levy, Shay; Lev, Efraim

2005-01-01

This article surveys the ethnobotany of Ziziphus spina-christi (L.) Desf. in the Middle East from various aspects: historical, religious, philological, literary, linguistic, as well as pharmacological, among Muslims, Jews, and Christians. It is suggested that this is the only tree species considered "holy" by Muslims (all the individuals of the species are sanctified by religion) in addition to its status as "sacred tree " (particular trees which are venerated due to historical or magical events related to them, regardless of their botanical identity) in the Middle East. It has also a special status as "blessed tree" among the Druze. PMID:16270941

The ethnobotany of Christ's Thorn Jujube (Ziziphus spina-christi) in Israel.

PubMed

Dafni, Amots; Levy, Shay; Lev, Efraim

2005-09-28

This article surveys the ethnobotany of Ziziphus spina-christi (L.) Desf. in the Middle East from various aspects: historical, religious, philological, literary, linguistic, as well as pharmacological, among Muslims, Jews, and Christians. It is suggested that this is the only tree species considered "holy" by Muslims (all the individuals of the species are sanctified by religion) in addition to its status as "sacred tree " (particular trees which are venerated due to historical or magical events related to them, regardless of their botanical identity) in the Middle East. It has also a special status as "blessed tree" among the Druze.

The Effects of Bag Style on Muscle Activity of the Trapezius, Erector Spinae and Latissimus Dorsi During Walking in Female University Students

PubMed Central

Hardie, Rebecca; Haskew, Rachel; Harris, Joel; Hughes, Gerwyn

2015-01-01

Back pain is common in adolescents which has been associated with carrying a bag. However, there is little research examining the effects of bag style in female adolescents. The aim of the study was to investigate the effects of different bag conditions on muscle activity of the trapezius, erector spinae and latissimus dorsi muscles in female university students during walking. Twelve female university students walked on a treadmill for 5 minutes at 1.1 m/s during five conditions; control, 1 strapped rucksack, 2 strapped rucksack, ipsilateral shoulder strap and contralateral shoulder strap, each containing 10% bodyweight. Electromyography for the trapezius, erector spinae and latissimus dorsi was recorded for the last 30 s of each condition. Two-way ANOVA and paired t-tests were used to identify differences between right and left muscles and between bag conditions. Results showed that muscle activity of the left trapezius was significantly higher than the right trapezius during the 1 strap rucksack condition. For the left trapezius, the 2 strapped rucksack and the control condition had significantly lower muscle activity compared to the 1 strapped rucksack and the ipsilateral shoulder strap. For the left erector spinae muscle, there was significantly greater muscle activity when wearing the contralateral shoulder strap compared to the control. For the right erector spinae, significantly lower muscle activity was observed when wearing the 2 strapped rucksack compared to the ipsilateral shoulder strap and contralateral shoulder strap. There were no significant differences in muscle activity of the latissimus dorsi muscles between any of the bag conditions. These findings suggest that a two strapped rucksack should be used when carrying loads to reduce spinal muscle activity which may, in turn, reduce reports of back pain in female adolescents. PMID:25964808

Interaction between Maternal and Paternal SHMT1 C1420T Predisposes to Neural Tube Defects in the Fetus: Evidence from Case-Control and Family-Based Triad Approaches.

PubMed

K Rebekah, Prasoona; Tella, Sunitha; Buragadda, Srinadh; Tiruvatturu, Muni Kumari; Akka, Jyothy

2017-04-14

Neural tube defects (NTDs) are caused by the failure of neural tube formation which occurs during early embryonic development. NTDs are the most severe and leading cause of fetal mortality. Serine hydroxymethyl transferase (SHMT1) provides one-carbon units necessary for embryogenesis and defects in one-carbon production result in specific pathological conditions during pregnancy. The present study is aimed to evaluate the association of SHMT1 C1420T with NTD risk in the fetus using fetal, maternal and paternal groups by applying both case-control and family-based triad approaches. A total of 924 subjects including 124 NTD case-parent trios (n = 124 × 3 = 372) and 184 healthy control-parent trios (n = 184 × 3 = 552) from Telangana State, South India were analyzed. DNA from umbilical cord tissues and parental blood samples were extracted, and genotyped by polymerase chain reaction-restriction fragment length polymorphism. Statistical analysis used were SPSS, parent-of-origin effect (POE) analysis. Case-control study design demonstrated fetuses with homozygous variant genotype (TT) to be at risk toward spina bifida subtype (p = 0.022). Among parents, fathers with TT genotype were associated with anencephaly (p = 0.018) and spina bifida subtypes (p = 0.027) in the offspring. Of interest, maternal-paternal-offspring genotype incompatibility revealed maternal CT genotype in combination with paternal TT genotype increased risk for NTDs in the fetus (CTxTT = TT; p = 0.021). Family-based parent-of-origin effect linkage analysis revealed significant maternal over-transmission of variant allele to NTD fetuses (p < 0.01). The present study, using both case-control and family-based triad approach is the first report to demonstrate parental association of SHMT1 C1420T variant in conferring NTD risk in the fetus. Birth Defects Research, 2017. © 2017 Wiley Periodicals, Inc. © 2017 Wiley Periodicals, Inc.

Interaction between Maternal and Paternal SHMT1 C1420T Predisposes to Neural Tube Defects in the Fetus: Evidence from Case-Control and Family-Based Triad Approaches.

PubMed

K Rebekah, Prasoona; Tella, Sunitha; Buragadda, Srinadh; Tiruvatturu, Muni Kumari; Akka, Jyothy

2017-07-17

Neural tube defects (NTDs) are caused by the failure of neural tube formation which occurs during early embryonic development. NTDs are the most severe and leading cause of fetal mortality. Serine hydroxymethyl transferase (SHMT1) provides one-carbon units necessary for embryogenesis and defects in one-carbon production result in specific pathological conditions during pregnancy. The present study is aimed to evaluate the association of SHMT1 C1420T with NTD risk in the fetus using fetal, maternal and paternal groups by applying both case-control and family-based triad approaches. A total of 924 subjects including 124 NTD case-parent trios (n = 124 × 3 = 372) and 184 healthy control-parent trios (n = 184 × 3 = 552) from Telangana State, South India were analyzed. DNA from umbilical cord tissues and parental blood samples were extracted, and genotyped by polymerase chain reaction-restriction fragment length polymorphism. Statistical analysis used were SPSS, parent-of-origin effect (POE) analysis. Case-control study design demonstrated fetuses with homozygous variant genotype (TT) to be at risk toward spina bifida subtype (p = 0.022). Among parents, fathers with TT genotype were associated with anencephaly (p = 0.018) and spina bifida subtypes (p = 0.027) in the offspring. Of interest, maternal-paternal-offspring genotype incompatibility revealed maternal CT genotype in combination with paternal TT genotype increased risk for NTDs in the fetus (CTxTT = TT; p = 0.021). Family-based parent-of-origin effect linkage analysis revealed significant maternal over-transmission of variant allele to NTD fetuses (p < 0.01). The present study, using both case-control and family-based triad approach is the first report to demonstrate parental association of SHMT1 C1420T variant in conferring NTD risk in the fetus. Birth Defects Research 109:1020-1029, 2017. © 2017 Wiley Periodicals, Inc. © 2017 Wiley Periodicals, Inc.

Weight-based nutritional diagnosis of Mexican children and adolescents with neuromotor disabilities.

PubMed

Vega-Sanchez, Rodrigo; de la Luz Gomez-Aguilar, Maria; Haua, Karime; Rozada, Guadalupe

2012-07-04

Nutrition related problems are increasing worldwide but they have scarcely been evaluated in people with neuromotor disabilities, particularly in developing countries. In this study our aim was to describe the weight-based nutritional diagnoses of children and adolescents with neuromotor disabilities who attended a private rehabilitation center in Mexico City. Data from the first visit's clinical records of 410 patients who attended the Nutrition department at the Teleton Center for Children Rehabilitation, between 1999 and 2008, were analyzed. Sex, age, weight and height, length or segmental length data were collected and used to obtain the nutritional diagnosis based on international growth charts, as well as disability-specific charts. Weight for height was considered the main indicator. Cerebral palsy was the most frequent diagnosis, followed by spina bifida, muscular dystrophy, and Down's syndrome. Children with cerebral palsy showed a higher risk of presenting low weight/undernutrition (LW/UN) than children with other disabilities, which was three times higher in females. In contrast, children with spina bifida, particularly males, were more likely to be overweight/obese (OW/OB), especially after the age of 6 and even more after 11. Patients with muscular dystrophy showed a significantly lower risk of LW/UN than patients with other disabilities. In patients with Down's syndrome neither LW/UN nor OW/OB were different between age and sex. This is the first study that provides evidence of the nutritional situation of children and adolescents with neuromotor disabilities in Mexico, based on their weight status. Low weight and obesity affect a large number of these patients due to their disability, age and sex. Early nutritional diagnosis must be considered an essential component in the treatment of these patients to prevent obesity and malnutrition, and improve their quality of life.

Decline of neural tube defects cases after a folic acid campaign in Nuevo León, México.

PubMed

Martínez de Villarreal, Laura; Pérez, Jesús Z Villarreal; Vázquez, Patricia Arredondo; Herrera, Ricardo Hernández; Campos, Ma Del Roble Velazco; López, Roberto Ambriz; Ramírez, José Luis Herrera; Sánchez, Jesús Manuel Yañez; Villarreal, Juan José Morales; Garza, Manuel Treviño; Limón, Adriana; López, Abel Guzmán; Bárcenas, Mario; García, Juan Ramón Cepeda; Domínguez, Andrés Sánchez; Nuñez, Rogelio Hernández; Ayala, Jorge Luis García; Martínez, Jorge Garza; González, Mario Tijerina; Alvarez, Carlos García; Castro, Roberto Negrete

2002-11-01

Nuevo León is a state in northeastern Mexico, near the border of Texas. Mean mortality rate from 1996-98 due to anencephaly cases was 0.6/1,000. In 1999 a surveillance program for the registry and prevention of neural tube defects (NTD) cases was initiated. Cases were obtained from hospitals and OB-GYN clinics by immediate notification, death certificates, or fetal death registries. Only isolated cases of NTD were included. In August 1999 a folic acid campaign was initiated with the free distribution of the vitamin to low-income women with a recommendation to take a 5.0-mg pill once a week. Number of cases and rates from 1999 to 2001 were compared (chi(2) test). After 2 years there has been a significant reduction in the number of cases and rates. In 1999 there were 95 NTD cases and in the years 2000 and 2001 there were only 59 and 55 respectively (P < 0.001). NTD rate decreased from 1.04/1,000 in 1999 to 0.58/1,000 in 2001. Anencephaly and spina bifida rates decreased from 0.55/1,000 to 0.29/1,000 and from 0.47/1,000 to 0.22/1,000 respectively, from 1999-2001. Decrease of female cases was higher than male cases for both phenotypes. After 2 years there was a 50% decrease in the incidence of anencephaly and spina bifida cases with a significant reduction of infant mortality and disability. These results encourage us to propose the use of a single tablet of 5.0-mg of folic acid per week as an alternative to supplementation on a daily basis. Copyright 2002 Wiley-Liss, Inc.

Prevention of neural tube defects with folic acid: The Chinese experience.

PubMed

Ren, Ai-Guo

2015-08-08

Neural tube defects (NTDs) are a group of congenital malformations of the central nervous system that are caused by the closure failure of the embryonic neural tube by the 28(th) day of conception. Anencephaly and spina bifida are the two major subtypes. Fetuses with anencephaly are often stillborn or electively aborted due to prenatal diagnosis, or they die shortly after birth. Most infants with spina bifida are live-born and, with proper surgical treatment, can survive into adulthood. However, these children often have life-long physical disabilities. China has one of the highest prevalence of NTDs in the world. Inadequate dietary folate intake is believed to be the main cause of the cluster. Unlike many other countries that use staple fortification with folic acid as the public health strategy to prevent NTDs, the Chinese government provides all women who have a rural household registration and who plan to become pregnant with folic acid supplements, free of charge, through a nation-wide program started in 2009. Two to three years after the initiation of the program, the folic acid supplementation rate increased to 85% in the areas of the highest NTD prevalence. The mean plasma folate level of women during early and mid-pregnancy doubled the level before the program was introduced. However, most women began taking folic acid supplements when they knew that they were pregnant. This is too late for the protection of the embryonic neural tube. In a post-program survey of the women who reported folic acid supplementation, less than a quarter of the women began taking supplements prior to pregnancy, indicating that the remaining three quarters of the fetuses remained unprotected during the time of neural tube formation. Therefore, staple food fortification with folic acid should be considered as a priority in the prevention of NTDs.

Improving the Lives of Children with Spina Bifida Act of 2013

THOMAS, 113th Congress

Sen. Donnelly, Joe [D-IN

2013-04-25

Senate - 05/09/2013 Committee on Veterans' Affairs. Hearings held. Hearings printed: S.Hrg. 113-203. (All Actions) Tracker: This bill has the status IntroducedHere are the steps for Status of Legislation:

Arithmetic Achievement in Children with Cerebral Palsy or Spina Bifida Meningomyelocele

ERIC Educational Resources Information Center

Jenks, Kathleen M.; van Lieshout, Ernest C. D. M.; de Moor, Jan

2009-01-01

The aim of this study was to establish whether children with a physical disability resulting from central nervous system disorders (CNSd) show a level of arithmetic achievement lower than that of non-CNSd children and whether this is related to poor automaticity of number facts or reduced arithmetic instruction time. Twenty-two children with CNSd…

[Usefulness of computed tomography with three-dimensional reconstructions in visualization of cervical spine malformation of a child with Sprengel's deformity].

PubMed

Wawrzynek, Wojciech; Siemianowicz, Anna; Koczy, Bogdan; Kasprowska, Sabina; Besler, Krzysztof

2005-01-01

The Sprengel's deformity is a congenital anomaly of the shoulder girdle with an elevation of the scapula and limitation of movement of the shoulder. Sprengel's deformity is frequently associated with cervical spine malformations such as: spinal synostosis, spina bifida and an abnormal omovertebral fibrous, cartilaginous or osseus connection. The diagnosis of Sprengel's deformity is based on a clinical examination and radiological procedures. In every case of Sprengel's deformity plain radiography and computed tomography should be performed. Three-dimensional (3D) reconstructions allow to visualize precise topography and spatial proportions of examined bone structures. 3D reconstruction also enables an optional rotation of visualized bone structures in order to clarify the anatomical abnormalities and to plan surgical treatment.

Optimal serum and red blood cell folate concentrations in women of reproductive age for prevention of neural tube defects: World Health Organization guidelines.

PubMed

Cordero, Amy M; Crider, Krista S; Rogers, Lisa M; Cannon, Michael J; Berry, R J

2015-04-24

Neural tube defects (NTDs) such as spina bifida, anencephaly, and encephalocele are serious birth defects of the brain and spine that occur during the first month of pregnancy when the neural tube fails to close completely. Randomized controlled trials and observational studies have shown that adequate daily consumption of folic acid before and during early pregnancy considerably reduces the risk for NTDs. The U.S. Public Health Service recommends that women capable of becoming pregnant consume 400 µg of folic acid daily for NTD prevention. Furthermore, fortification of staple foods (e.g., wheat flour) with folic acid has decreased folate-sensitive NTD prevalence in multiple settings and is a highly cost-effective intervention.

Insights into Metabolic Mechanisms Underlying Folate-Responsive Neural Tube Defects: A Minireview

PubMed Central

Beaudin, Anna E.; Stover, Patrick J.

2015-01-01

Neural tube defects (NTDs), including anencephaly and spina bifida, arise from the failure of neurulation during early embryonic development. Neural tube defects are common birth defects with a heterogenous and multifactorial etiology with interacting genetic and environmental risk factors. Although the mechanisms resulting in failure of neural tube closure are unknown, up to 70% of NTDs can be prevented by maternal folic acid supplementation. However, the metabolic mechanisms underlying the association between folic acid and NTD pathogenesis have not been identified. This review summarizes our current understanding of the mechanisms by which impairments in folate metabolism might ultimately lead to failure of neural tube closure, with an emphasis on untangling the relative contributions of nutritional deficiency and genetic risk factors to NTD pathogenesis. PMID:19180567

Neural Tube Defects

PubMed Central

Greene, Nicholas D.E.; Copp, Andrew J.

2015-01-01

Neural tube defects (NTDs), including spina bifida and anencephaly, are severe birth defects of the central nervous system that originate during embryonic development when the neural tube fails to close completely. Human NTDs are multifactorial, with contributions from both genetic and environmental factors. The genetic basis is not yet well understood, but several nongenetic risk factors have been identified as have possibilities for prevention by maternal folic acid supplementation. Mechanisms underlying neural tube closure and NTDs may be informed by experimental models, which have revealed numerous genes whose abnormal function causes NTDs and have provided details of critical cellular and morphological events whose regulation is essential for closure. Such models also provide an opportunity to investigate potential risk factors and to develop novel preventive therapies. PMID:25032496

Divergent Views on Abortion and the Period of Ensoulment

PubMed Central

Khitamy, Badawy A. B.

2013-01-01

A Muslim woman in her sixteenth week of pregnancy was informed that her ultrasound scan showed spina bifida, and laboratory results confirmed the diagnosis. The child would have various complications and, most probably, would need medical care for life. With the consent of her husband she decided to terminate the pregnancy. Her decision sparked controversy among Muslim clerics in her community, sparking debate between those who would allow abortion for medical reasons and those who oppose abortion for any reason. This paper will review the philosophical and theological arguments of the pro-life and pro-choice groups as well as the Islamic perspective concerning a woman’s autonomy over her reproductive system, the sanctity of the fetus and the embryo, therapeutic abortion, and ensoulment. PMID:23573379

The relationship between EMG activity and extensor moment generation in the erector spinae muscles during bending and lifting activities.

PubMed

Dolan, P; Adams, M A

1993-01-01

The relationship between EMG activity and extensor moment generation in the erector spinae muscles was investigated under isometric and concentric conditions. The full-wave rectified and averaged EMG signal was recorded from skin-surface electrodes located over the belly of the erector spinae at the levels of T10 and L3, and compared with measurements of extensor moment. The effects of muscle length and contraction velocity were studied by measuring the overall curvature (theta) and rate of change of curvature (d theta/dt) of the lumbar spine in the sagittal plane, using the '3-Space Isotrak' system. Isometric contractions were investigated with the subjects pulling up on a load cell attached to the floor. Hand height was varied to produce different amounts of lumbar flexion, as indicated by changes in lumbar curvature. The extensor moment was found to be linearly related to EMG activity, and the 'gradient' and 'intercept' of the relationship were themselves dependent upon the lumbar curvature at the time of testing. Concentric contractions were investigated with the subjects extending from a seated toe-touching position, at various speeds, while the torque exerted on the arm of a Cybex dynamometer was continuously measured. Under these conditions the EMG signal (E) was higher than the isometric signal (E0) associated with the same torque. E and E0 were related as follows: E0 = E/(1 + A d theta/dt), where A = 0.0014 exp (0.045P) and P = percentage lumbar flexion. This equation was used to correct the EMG data for the effect of contraction velocity. The corrected data were then used, in conjunction with the results of the isometric calibrations, to calculate the extensor moment generated by the erector spinae muscles during bending and lifting activities. The extensor moment can itself be used to calculate the compressive force acting on the lumbar spine.

Trends in Spina Bifida and Anencephalus in the United States, 1991-2006

MedlinePlus

... for all years exclude data for Maryland, New Mexico, and New York, which in various years had ... 26.52 NOTE: Excludes data for Maryland, New Mexico, and New York, which did not require reporting ...

IS SONIC HEDGEHOG (SHH) A CANDIDATE GENE FOR SPINA BIFIDA? (R828292)

EPA Science Inventory

The perspectives, information and conclusions conveyed in research project abstracts, progress reports, final reports, journal abstracts and journal publications convey the viewpoints of the principal investigator and may not represent the views and policies of ORD and EPA. Concl...

Estimating the burden of neural tube defects in low– and middle–income countries

PubMed Central

Lo, Annie; Polšek, Dora; Sidhu, Simrita

2014-01-01

Background To provide an estimate for the burden of neural tube defects (NTD) in low– and middle–income countries (LMIC) and explore potential public health policies that may be implemented. Although effective interventions are available to prevent NTD, there is still considerable childhood morbidity and mortality present in LMIC. Methods A search of Medline, EMBASE, Global Health Library and PubMed identified 37 relevant studies that provided estimates of the burden of NTD in LMIC. Information on burden of total NTD and specific NTD types was separated according to the denominator into two groups: (i) estimates based on the number of live births only; and (ii) live births, stillbirths and terminations. The data was then extracted and analysed. Results The search retrieved NTD burden from 18 countries in 6 WHO regions. The overall burden calculated using the median from studies based on livebirths was 1.67/1000 (IQR = 0.98–3.49) for total NTD burden, 1.13/1000 (IQR = 0.75–1.73) for spina bifida, 0.25/1000 (IQR = 0.08–1.07) for anencephaly and 0.15/1000 (IQR = 0.08–0.23) for encephalocele. Corresponding estimates based on all pregnancies resulting in live births, still births and terminations were 2.55/1000 (IQR = 1.56–3.91) for total NTD burden, 1.04/1000 (IQR = 0.67–2.48) for spina bifida, 1.03/1000 (IQR = 0.67–1.60) for anencephaly and 0.21 (IQR = 0.16–0.28) for encephalocele. This translates into about 190 000neonates who are born each year with NTD in LMIC. Conclusion Limited available data on NTD in LMIC indicates the need for additional research that would improve the estimated burden of NTD and recommend suitable aid policies through maternal education on folic acid supplementation or food fortification. PMID:24976961

Rate of shunt revision as a function of age in patients with shunted hydrocephalus due to myelomeningocele.

PubMed

Dupepe, Esther B; Hopson, Betsy; Johnston, James M; Rozzelle, Curtis J; Jerry Oakes, W; Blount, Jeffrey P; Rocque, Brandon G

2016-11-01

OBJECTIVE It is generally accepted that cerebrospinal fluid shunts fail most frequently in the first years of life. The purpose of this study was to describe the risk of shunt failure for a given patient age in a well-defined cohort with shunted hydrocephalus due to myelomeningocele (MMC). METHODS The authors analyzed data from their institutional spina bifida research database including all patients with MMC and shunted hydrocephalus. For the entire population, the number of shunt revisions in each year of life was determined. Then the number of patients at risk for shunt revision during each year of life was calculated, thus enabling them to calculate the rate of shunt revision per patient in each year of life. In this way, the timing of all shunt revision operations for the entire clinic population and the likelihood of having a shunt revision during each year of life were calculated. RESULTS A total of 655 patients were enrolled in the spina bifida research database, 519 of whom had a diagnosis of MMC and whose mean age was 17.48 ± 11.7 years (median 16 years, range 0-63 years). Four hundred seventeen patients had had a CSF shunt for the treatment of hydrocephalus and thus are included in this analysis. There were 94 shunt revisions in the 1st year of life, which represents a rate of 0.23 revisions per patient in that year. The rate of shunt revision per patient-year initially decreased as age increased, except for an increase in revision frequency in the early teen years. Shunt revisions continued to occur as late as 43 years of age. CONCLUSIONS These data substantiate the idea that shunt revision surgeries in patients with MMC are most common in the 1st year of life and decrease thereafter, except for an increase in the early teen years. A persistent risk of shunt failure was observed well into adult life. These findings underscore the importance of routine follow-up of all MMC patients with shunted hydrocephalus and will aid in counseling patients and

VOJTA neurophysiologic therapy.

PubMed

Bauer, H; Appaji, G; Mundt, D

1992-01-01

The reflexlocomotion acc. to VOJTA is a neurophysiologic facilitation system for the whole CNS and neuromuscular apparatus. It consists of all components, in a reciprocal manner of locomotion: (i) automatic control of posture, (ii) uprighting, (iii) aimed movements. Consequently the indications for this type of kinesiologic facilitation are really extensive. In this article the following complete list of indications is described: CCD (central coordination disorder), CP (cerebral palsy), peripheral paresis, Spina bifida (MMC), Myopathies, congenital malformations, orthopaedic problems, traumatic cross sections, neuromuscular dysfunctions etc. Further the experiences of the treatment in each disease are discussed. Even EMG-detections have shown the effect of the therapy in peripheral and central damage. Therefore a good prognosis for improvement and rehabilitation can be given in a large number of disorders, irrespective of age.

NASA Technology Benefits Orthotics

NASA Technical Reports Server (NTRS)

Myers, Neill; Shadoan, Michael

1998-01-01

Engineers at NASA's Marshall Space Flight Center (MSFC) in Huntsville, Alabama have designed a knee brace to aid in the rehabilitation of medical patients. The device, called the Selectively Lockable Knee Brace, was designed for knee injury and stroke patients but may potentially serve in many more patient applications. Individuals with sports related injuries, spinal cord injuries and birth defects, such as spina bifida, may also benefit from the device. The Selectively Lockable Knee Brace is designed to provide secure support to the patient when weight is applied to the leg; however; when the leg is not supporting weight, the device allows free motion of the knee joint. Braces currently on the market lock the knee in a rigid, straight or bent position, or by manually pulling a pin, allow continuous free joint motion.

Differences between two subgroups of low back pain patients in lumbopelvic rotation and symmetry in the erector spinae and hamstring muscles during trunk flexion when standing.

PubMed

Kim, Min-hee; Yoo, Won-gyu; Choi, Bo-ram

2013-04-01

The present study was performed to examine lumbopelvic rotation and to identify asymmetry of the erector spinae and hamstring muscles in people with and without low back pain (LBP). The control group included 16 healthy subjects, the lumbar-flexion-rotation syndrome LBP group included 17 subjects, and the lumbar-extension-rotation syndrome LBP group included 14 subjects. Kinematic parameters were recorded using a 3D motion-capture system, and electromyography parameters were measured using a Noraxon TeleMyo 2400T. The two LBP subgroups showed significantly more lumbopelvic rotation during trunk flexion in standing than did the control group. The muscle activity and flexion-relaxation ratio asymmetries of the erector spinae muscles in the lumbar-flexion-rotation syndrome LBP group were significantly greater than those in the control group, and the muscle activity and flexion-relaxation ratio asymmetry of the hamstring muscles in the lumbar-extension-rotation syndrome LBP group were significantly greater than those in the control group. Imbalance or asymmetry of passive tissue could lead to asymmetry of muscular activation. Muscle imbalance can cause asymmetrical alignment or movements such as unexpected rotation. The results showed a greater increase in lumbopelvic rotation during trunk flexion in standing among the lumbar-flexion-rotation syndrome and lumbar-extension-rotation syndrome LBP groups compared with the control group. The differences between the two LBP subgroups may be a result of imbalance and asymmetry in erector spinae and hamstring muscle properties. Copyright © 2012 Elsevier Ltd. All rights reserved.

Prediction of maximal surface electromyographically based voluntary contractions of erector spinae muscles from sonographic measurements during isometric contractions.

PubMed

Cuesta-Vargas, Antonio I; González-Sánchez, Manuel

2014-03-01

Currently, there are no studies combining electromyography (EMG) and sonography to estimate the absolute and relative strength values of erector spinae (ES) muscles in healthy individuals. The purpose of this study was to establish whether the maximum voluntary contraction (MVC) of the ES during isometric contractions could be predicted from the changes in surface EMG as well as in fiber pennation and thickness as measured by sonography. Thirty healthy adults performed 3 isometric extensions at 45° from the vertical to calculate the MVC force. Contractions at 33% and 100% of the MVC force were then used during sonographic and EMG recordings. These measurements were used to observe the architecture and function of the muscles during contraction. Statistical analysis was performed using bivariate regression and regression equations. The slope for each regression equation was statistically significant (P < .001) with R(2) values of 0.837 and 0.986 for the right and left ES, respectively. The standard error estimate between the sonographic measurements and the regression-estimated pennation angles for the right and left ES were 0.10 and 0.02, respectively. Erector spinae muscle activation can be predicted from the changes in fiber pennation during isometric contractions at 33% and 100% of the MVC force. These findings could be essential for developing a regression equation that could estimate the level of muscle activation from changes in the muscle architecture.

JUMONJI GENE AND RISK FOR SPINA BIFIDA AND CONGENITAL HEART DEFECTS. (R828292)

EPA Science Inventory

The perspectives, information and conclusions conveyed in research project abstracts, progress reports, final reports, journal abstracts and journal publications convey the viewpoints of the principal investigator and may not represent the views and policies of ORD and EPA. Concl...

ASSOCIATIONS BETWEEN POLYMORPHISMS WITHIN THE THYMIDYLATE SYNTHASE GENE AND SPINA BIFIDA. (R828292)

EPA Science Inventory

The perspectives, information and conclusions conveyed in research project abstracts, progress reports, final reports, journal abstracts and journal publications convey the viewpoints of the principal investigator and may not represent the views and policies of ORD and EPA. Concl...

The Utrecht approach to exercise in chronic childhood conditions: the decade in review.

PubMed

van Brussel, Marco; van der Net, Janjaap; Hulzebos, Erik; Helders, Paul J M; Takken, Tim

2011-01-01

To summarize and discuss current evidence and understanding of clinical pediatric exercise physiology focusing on the work the research group at Utrecht and others have performed in the last decade in a variety of chronic childhood conditions as a continuation of the legacy of Dr Bar-Or. The report discusses current research findings on the cardiopulmonary exercise performance of children (and adolescents) with juvenile idiopathic arthritis, osteogenesis imperfecta, achondroplasia, hemophilia, cerebral palsy, spina bifida, cystic fibrosis, and childhood cancer. Exercise recommendations and contraindications are provided for each condition. Implications for clinical practice and future research in this area are discussed for each of the chronic conditions presented. The authors provide a basic framework for developing an individual and/or disease-specific training program, introduce the physical activity pyramid, and recommend a core set of clinical measures to be used in clinical research.

Gastrointestinal disorders in children with neurodevelopmental disabilities.

PubMed

Sullivan, Peter B

2008-01-01

Children with neurodevelopmental disabilities such as cerebral palsy (CP), spina bifida, or inborn errors of metabolism frequently have associated gastrointestinal problems. These include oral motor dysfunction leading to feeding difficulties, risk of aspiration, prolonged feeding times, and malnutrition with its attendant physical compromise. Gastrostomy tube feeding is increasingly being used in these children to circumvent oral motor dysfunction and prevent malnutrition. Foregut dysmotility causes several problems such as dysphagia from oesophageal dysmotility, gastro-oesophageal reflux disease, and delayed gastric emptying. Gastro-oesophageal reflux disease is common in these children but often fails to respond to medical management and may require surgical treatment. Finally, constipation is often a problem that may be overlooked in this population. This article focuses on these associated gastrointestinal manifestations and discusses the current diagnostic and therapeutic options available. (c) 2008 Wiley-Liss, Inc.

Alagille Syndrome: A Case Report Highlighting Dysmorphic Facies, Chronic Illness, and Depression

PubMed Central

Winthrop, Zachary A.; Salman, Rabia; Majeed, Salman

2016-01-01

Alagille syndrome is a rare multisystem disorder affecting the liver, heart, vertebrae, eyes, and face. Alagille syndrome shares multiple phenotypic variants of other congenital or chronic childhood illnesses such as DiGeorge syndrome, Down syndrome, spina bifida, type 1 diabetes mellitus, and cystic fibrosis. All of these chronic illnesses have well-established links to psychiatric conditions. There are few community resources for Alagille patients, as it is an extremely rare condition. Despite the overlap with other chronic childhood illnesses, the psychiatric manifestations of Alagille syndrome have not been previously discussed in literature. The current study is a case report of a twelve-year-old female hospitalized in our pediatric psychiatric hospital for suicidal ideation with intent and plan. The patient had major depressive disorder, anxiety, other specified feeding and eating disorder, and attention-deficit/hyperactive disorder. PMID:28018696

[Prevalence of selected congenital anomalies in the Czech Republic: congenital anomalies of the central nervous system and gastrointestinal tract].

PubMed

Šípek, A; Gregor, V; Horáček, J; Šípek, A; Klaschka, J; Malý, M

2015-03-01

Analysis of the prevalence of selected congenital anomalies in the Czech Republic in 1994-2009. Retrospective epidemiological analysis of the postnatal and overall (including prenatally diagnosed cases) prevalence of congenital anomalies from the database of the National Registry of Congenital Anomalies of the Czech Republic. Data from the National Registry of Congenital Anomalies (NRCA) maintained by the Institute of Health Information and Statistics of the Czech Republic (IHIS CR) were used. The analysis was carried out for the entire Czech Republic, based on the data from 1994 to 2009. Additional data on prenatally diagnosed anomalies were obtained from medical genetics centres and laboratories in the Czech Republic. This study analyzed the postnatal and overall (including prenatally diagnosed cases) prevalence of congenital anomalies. More detailed analysis was carried out for the following diagnoses: anencephaly, spina bifida, encephalocoele, congenital hydrocephalus, omphalocoele, gastroschisis, oesophageal atresia and stenosis, anorectal anomalies, and diaphragmatic hernia. Prevalence trends were analysed using Poisson regression. In 2009, a total of 118 348 live births were recorded in the Czech Republic, 60 368 boys and 57 980 girls. Of this total, 4 653, i.e. 2 745 boys and 1 908 girls, were diagnosed with congenital anomalies. In 2007-2009, the total of life births with congenital anomalies ranged between 4.6 and 4.8 thousand per year. The respective ranges in this three-year period were in the order of 2.7 and 2.8 thousand per year for boys and 1.9 thousand per year for girls. The prevalence of postnatally diagnosed anencephaly was minimal, as most cases were diagnosed prenatally, and the data did not vary significantly. The prevalence of postnatally diagnosed cases remained at the same level. The effectiveness of the prenatal diagnosis of spina bifida increased and thus the prevalence of postnatally diagnosed cases decreased. The prevalence of

Testing the Feasibility of a Passive and Active Case Ascertainment System for Multiple Rare Conditions Simultaneously: The Experience in Three US States

PubMed Central

McDermott, Suzanne; Ruttenber, Margaret; Mann, Joshua; Smith, Michael G; Royer, Julie; Valdez, Rodolfo

2016-01-01

Background Owing to their low prevalence, single rare conditions are difficult to monitor through current state passive and active case ascertainment systems. However, such monitoring is important because, as a group, rare conditions have great impact on the health of affected individuals and the well-being of their caregivers. A viable approach could be to conduct passive and active case ascertainment of several rare conditions simultaneously. This is a report about the feasibility of such an approach. Objective To test the feasibility of a case ascertainment system with passive and active components aimed at monitoring 3 rare conditions simultaneously in 3 states of the United States (Colorado, Kansas, and South Carolina). The 3 conditions are spina bifida, muscular dystrophy, and fragile X syndrome. Methods Teams from each state evaluated the possibility of using current or modified versions of their local passive and active case ascertainment systems and datasets to monitor the 3 conditions. Together, these teams established the case definitions and selected the variables and the abstraction tools for the active case ascertainment approach. After testing the ability of their local passive and active case ascertainment system to capture all 3 conditions, the next steps were to report the number of cases detected actively and passively for each condition, to list the local barriers against the combined passive and active case ascertainment system, and to describe the experiences in trying to overcome these barriers. Results During the test period, the team from South Carolina was able to collect data on all 3 conditions simultaneously for all ages. The Colorado team was also able to collect data on all 3 conditions but, because of age restrictions in its passive and active case ascertainment system, it was able to report few cases of fragile X syndrome. The team from Kansas was able to collect data only on spina bifida. For all states, the implementation of an

A systematic review of self-management interventions for children and youth with physical disabilities

PubMed Central

Kingsnorth, Shauna; Mcdougall, Carolyn; Keating, Heather

2014-01-01

Purpose: Evidence shows that effective self-management behaviors have the potential to improve health outcomes, quality of life, self-efficacy and reduce morbidity, emergency visits and costs of care. A better understanding of self-management interventions (i.e. programs that help with managing symptoms, treatment, physical and psychological consequences) is needed to achieve a positive impact on health because most children with a disability now live well into adulthood. Method: A systematic review of self-management interventions for school age youth with physical disabilities was undertaken to assess their effectiveness. Comprehensive electronic searches using international web-based reference libraries were conducted for peer-reviewed and gray literature published between 1980 and January 2012. Eligible studies examined the effectiveness of self-management interventions for children and youth between 6 and 18 years of age with congenital or acquired physical disabilities. Studies needed to include a comparison group (e.g. single group pre/post-test design) and at least one quantifiable health-related outcome. Results: Of the 2184 studies identified, six met the inclusion criteria; two involved youth with spina bifida and four with juvenile arthritis. The majority of the interventions ran several sessions for at least 3 months by a trained interventionist or clinician, had one-to-one sessions and meetings, homework activities and parental involvement. Although outcomes varied between the studies, all of the interventions reported at least one significant improvement in either overall self-management skills or a specific health behavior. Conclusions: While self-management interventions have the potential to improve health behaviors, there were relatively few rigorously designed studies identified. More studies are needed to document the outcomes of self-management interventions, especially their most effective characteristics for children and youth with physical

Family management of a chronic health condition: perspectives of adolescents.

PubMed

Wollenhaupt, Josanne; Rodgers, Beth; Sawin, Kathleen J

2012-02-01

A growing number of adolescents and their families are dealing with a chronic health condition that impacts their daily life. Research using the Family Management Style Framework (FMSF) has added much to our understanding of how the family integrates chronic condition management into family life. Less clear, however, is the adolescent perspective of the FMSF components. The purpose of this secondary qualitative analysis was to explore 25 interviews of adolescents with spina bifida to uncover the adolescent's perspective of the three major FMSF components: Definition of the Situation, Management Behaviors, and Perceived Consequences. Adolescents were able to articulate their perspectives and their observations of their parents' behaviors that related to the three components and related dimensions of the framework. Data from this analysis led to proposed expansion of the FMSF definitions from an adolescent perspective. Implications for integrating the adolescent perspective into future research and clinical practice are discussed.

Amniotic fluid gamma-glutamyl transpeptidase activity during the second trimester.

PubMed

Legge, M; Potter, H C

1986-03-12

Gamma glutamyl transpeptidase (GGTP) activity was determined in second trimester amniotic fluid taken from normal fetuses and those with fetal abnormalities. GGTP activity decreased with advancing gestation. Increasing meconium contamination correlated with an increase in GGTP activity as did increasing fetal blood contamination. Maternal blood did not affect GGTP activity. Anencephaly did not significantly alter the GGTP activity, however, fetuses with spina bifida had significantly lower activity. Klinefelters and Turners syndromes both had GGTP activity close to the 50th percentile, and two trisomy 21 fetuses had GGTP activity below the 40th percentile. Two trisomy 18 fetuses and two translocation Downs syndromes (46 XY, t (14;21) had GGTP activities considerably lower than the 20th percentile as did a fetus with gastroschisis. Second trimester amniotic fluid GGTP activity may provide an easy preliminary test to screen amniotic fluids for the possibility of certain fetal chromosome abnormalities.

Transition to adult-oriented health care: perspectives of youth and adults with complex physical disabilities.

PubMed

Young, Nancy L; Barden, Wendy S; Mills, Wendy A; Burke, Tricia A; Law, Mary; Boydell, Katherine

2009-01-01

The transition to adulthood is extremely difficult for individuals with disabilities. We sought to explore the specific issue of transition to adult-oriented health care in a Canadian context. We conducted semi-structured individual interviews with 15 youth and 15 adults with cerebral palsy, spina bifida, and acquired brain injuries of childhood, and their parents (n = 30). Respondents discussed their health care services, their experience with clinical transition, and contributing factors. We analyzed the transcripts using qualitative methods. All participants identified challenges in transition, including: lack of access to health care; lack of professionals' knowledge; lack of information and uncertainty regarding the transition process. Two solutions were identified: early provision of detailed information and more extensive support throughout the clinical transition process. The challenges of clinical transition were universal. More extensive information and support is needed during transition to ensure an efficient move to appropriate adult-oriented health care.

Natural rubber latex allergy and asthma.

PubMed

Tarlo, S M

2001-01-01

Allergic responses to natural rubber latex (NRL) continue to be reported. In adults, the major exposure is in the occupational setting, especially in relation to NRL glove use by health care workers. Issues addressed over the past year include improving diagnostic methods for NRL allergy and characterization of NRL allergens relevant to various exposure groups and evaluating strategies for prevention and early detection of NRL allergy. Assessment of in vitro tests show good intertest correlation but lower sensitivity compared with skin test responses. NRL allergens have been further characterized as reported in the past year. Development of recombinant Hev b 3, a major NRL allergen relevant to children with spina bifida, enhances the likelihood for improved diagnostic reagents. Preliminary reports of primary preventive strategies suggest that avoidance of high-protein, powdered gloves in health care facilities can be cost-effective and is associated with a decline in sensitized workers.

Splenogonadal fusion with limb deficiency and micrognathia.

PubMed

Moore, P J; Hawkins, E P; Galliani, C A; Guerry-Force, M L

1997-11-01

Splenogonadal fusion (SGF) is a rare abnormality with two known types. In the continuous type, the spleen is connected to the gonad, and there are often limb defects, micrognathia, or other congenital malformations such as ventricular septal defect, anal atresia, microgastria, spina bifida, craniosynostosis, thoracopagus, diaphragmatic hernia, hypoplastic lung and abnormal lung fissures, polymicrogyria, deficient coccyx, and bifid spine C6-T3. The discontinuous type is usually not associated with congenital defects, and the gonad that fused with an accessory spleen has no connection with the native spleen. The etiology of SGF is not known. Conceivably, a teratogenic insult occurring between 5 weeks' and 8 weeks' gestation could interfere with the normal development of the spleen, gonads, and limb buds. We describe a case of splenogonadal fusion in a stillborn black boy with associated micrognathia and limb deformities. Also, we review the possible teratogenic etiologies and embryonic basis of SGF.

A role for PDGF-C/PDGFRα signaling in the formation of the meningeal basement membranes surrounding the cerebral cortex

PubMed Central

Andrae, Johanna; Gouveia, Leonor; Gallini, Radiosa; He, Liqun; Fredriksson, Linda; Nilsson, Ingrid; Johansson, Bengt R.; Eriksson, Ulf; Betsholtz, Christer

2016-01-01

ABSTRACT Platelet-derived growth factor-C (PDGF-C) is one of three known ligands for the tyrosine kinase receptor PDGFRα. Analysis of Pdgfc null mice has demonstrated roles for PDGF-C in palate closure and the formation of cerebral ventricles, but redundancy with other PDGFRα ligands might obscure additional functions. In search of further developmental roles for PDGF-C, we generated mice that were double mutants for Pdgfc−/− and PdgfraGFP/+. These mice display a range of severe phenotypes including spina bifida, lung emphysema, abnormal meninges and neuronal over-migration in the cerebral cortex. We focused our analysis on the central nervous system (CNS), where PDGF-C was identified as a critical factor for the formation of meninges and assembly of the glia limitans basement membrane. We also present expression data on Pdgfa, Pdgfc and Pdgfra in the cerebral cortex and microarray data on cerebral meninges. PMID:26988758

The Hungarian congenital malformation monitoring system.

PubMed

Czeizel, A

1978-01-01

The Hungarian Congenital Malformation Monitor has been operating since 1973 in order to detect the temporal and regional clusters of 12 indicator congenital malformations as early as possible. This Monitor takes part in the International Clearinghouse for Birth Defects Monitoring System. Three continuously increasing trends were detected in 1973--1976. They may be connected with the more complete notifications, although the increase of limb reduction deformities are only partly explained by this factor. Transitional (quarterly) significant clusters were observed in the case of anencephaly (1974, IV), spina bifida (1974, II; and 1975, III; 1976, III), cleft lip +/- cleft palate (1974, III). The possibility of three technical biases (changes in diagnosis, notification and evaluation of the given congenital malformation) has to be excluded before accepting the fact of a real epidemic. Subsequently, a case-control epidemiological study by personal interviews and with matched controls has to be performed.

Phenolic profile, antioxidant capacity of five Ziziphus spina-christi (L.) Willd provenances and their allelopathic effects on Trigonella foenum-graecum L. and Lens culinaris L. seeds.

PubMed

Elaloui, M; Ghazghazi, H; Ennajah, A; Manaa, S; Guezmir, W; Karray, N B; Laamouri, A

2017-05-01

The aim of this work was to evaluate some secondary metabolites, antioxidant activity of methanolic leaf extracts of five Ziziphus spina-christi provenances (INRGREF, Tozeur, Degueche, Nafta and Kebelli) and their allelopathic effects on Trigonella foenum-graecum and Lens culinaris. Leaves were collected during 2013 and 2014. Total phenols, flavonoids, tannins and antioxidant activity were evaluated using the Folin ciocalteux, Aluminum trichloride, vanillin and scavenging activity on 22-diphenyl-1-picrylhydrazyl (DPPH) radical methods, respectively. Total phenols, tannins and flavonoids were present, at levels of 57.41 mg GAE/g DW, 31.98 mg RE/g DW and 14.68 μg CE/g DW, respectively. The high antioxidant activity (0.086 μg/mL) was noted in kebelli provenance (2013). The highest germination, plumule and radicle lengths of tested species were observed in INRGREF provenance. Z. spina-christi leaf extracts may be suggested in foods and pharmaceutical industries. Leaf extracts could also provide a natural herbicide with a positive impact on the environment.

An uncommon disorder with multiple skeletal anomalies: Gorlin-Goltz syndrome.

PubMed

Keçeli, Onur; Coskun-Benlidayı, İlke; Benlidayı, M Emre; Erdoğan, Özgür

2014-01-01

Gorlin-Goltz syndrome is an uncommon disorder transmitted through autosomal dominant inheritance. This syndrome is characterized by multiple odontogenic keratocysts, along with congenital skeletal anomalies and basal cell carcinomas. A 16-year-old girl was admitted with a complaint of swelling on the lower jaw. She had multiple basal cell nevi on both hands. Multiple lytic bone lesions on radiographs were defined as odontogenic keratocysts following the biopsy. The patient was referred to the Department of Physical Medicine and Rehabilitation for detailed musculoskeletal evaluation. Adam's forward bend test revealed a hump on the right side representing right thoracic scoliosis. Cervical kyphosis, thoracic lordosis and scoliosis, bifid rib and sacral and lumbar spina bifida on plain radiographs led to the diagnosis of Gorlin-Goltz syndrome. Since early diagnosis may provide optimum surveillance for related neoplasms, it is of paramount importance for pediatricians as well as physicians dealing with the musculoskeletal system to be aware of this rare condition.

Airport noise and teratogenesis.

PubMed

Edmonds, L D; Layde, P M; Erickson, J D

1979-01-01

It has been suggested that exposures to high-noise levels near major airports may cause increased incidence of birth defects in the offspring of parents residing near these airports. Using data gathered in Metropolitan Atlanta during 1970 to 1972, we compared the rates of seventeen categories of defects in high- and low-noise census tracts. No significant differences were observed. However, when we subdivided the category of central nervous system defects into several subcategories of specific defects, we noted a significantly increased incidence of spina bifida without hydrocephalus in the high-noise areas. Because the small number of cases associated with this finding we did a matched case-control study using all cases of central nervous system defects born during the years 1968 to 1976. No significantly increased risk for residents in the high-noise areas was noted in this study. It is our opinion that noise or other factors associated with residence near airports are unlikely to be important environmental teratogens.

Chemicals, birth defects and stillbirths in New Brunswick: associations with agricultural activity.

PubMed Central

White, F M; Cohen, F G; Sherman, G; McCurdy, R

1988-01-01

We describe a series of investigations that were conducted in support of the Task Force on Chemicals in the Environment and Human Reproductive Problems in New Brunswick. Geographic and temporal analyses and case-control studies, with the use of vital statistics, hospital records, the Canadian Congenital Anomalies Surveillance System and chemical databases, revealed no association between pesticides used in forestry and reproductive problems. Evidence of an association between the potential exposure to agricultural chemicals and three major anomalies combined as well as spina bifida without hydrocephalus was found. More plausible was an association between stillbirths and such exposure during the second trimester of pregnancy. This finding, along with the cyclic patterns of stillbirth in the agricultural Saint John River basin and the somewhat higher stillbirth rates in New Brunswick than in adjacent provinces or in Canada as a whole, suggests that further attention should focus on possible associations between agricultural activity and stillbirths. PMID:3275483

Johnson v. Thompson.

PubMed

1992-08-06

The U.S. Court of Appeals, Tenth Circuit, held that the Federal Rehabilitation Act does not create a substantive right to medical treatment. A complaint was brought on behalf of infants born with myelomeningocele (spina bifida). The infants were participants in a study in which doctors recommended vigorous treatment, consisting of surgery and antibiotics, for roughly half of the infants studied. The appellate court held that, because the study considered both medical and nonmedical factors, infants who were not recommended for vigorous treatment were not discriminated against solely because of their handicap. The plaintiffs failed to show that, despite the handicap, the infants were otherwise qualified to receive vigorous treatment. Due to insufficient evidence that the infants' families' socioeconomic status was a determinative factor in the recommendation, the infants were not denied equal protection under the law. While the Constitution protects an interest in life, it does not impose an affirmative obligation on a state to preserve life.

Muscle-Bone Interactions in Pediatric Bone Diseases.

PubMed

Veilleux, Louis-Nicolas; Rauch, Frank

2017-10-01

Here, we review the skeletal effects of pediatric muscle disorders as well as muscle impairment in pediatric bone disorders. When starting in utero, muscle disorders can lead to congenital multiple contractures. Pediatric-onset muscle weakness such as cerebral palsy, Duchenne muscular dystrophy, spinal muscular atrophy, or spina bifida typically are associated with small diameter of long-bone shafts, low density of metaphyseal bone, and increased fracture incidence in the lower extremities, in particular, the distal femur. Primary bone diseases can affect muscles through generic mechanisms, such as decreased physical activity or in disease-specific ways. For example, the collagen defect underlying the bone fragility of osteogenesis imperfecta may also affect muscle force generation or transmission. Transforming growth factor beta released from bone in Camurati Engelman disease may decrease muscle function. Considering muscle-bone interactions does not only contribute to the understanding of musculoskeletal disorders but also can identify new targets for therapeutic interventions.

Polymyxin-B immobilized column-direct hemoperfusion for adolescent toxic shock syndrome.

PubMed

Nanishi, Etsuro; Hirata, Yuichirou; Lee, Sooyoung; Kaku, Noriyuki; Momii, Kenta; Kubota, Kensuke; Nishio, Hisanori; Maehara, Yoshihiko; Hara, Toshiro

2016-10-01

Toxic shock syndrome (TSS) is a critical illness associated with toxin from Staphylococcus aureus. Despite recent advances in critical care, mortality remains high and additional effective therapy is required. We report an adolescent case of TSS successfully treated with direct hemoperfusion using polymyxin-B immobilized fiber (PMX-DHP). The patient with spina bifida also had ischial pressure ulcer, and developed TSS associated with methicillin-resistant S. aureus. Despite conventional treatment, the patient developed refractory shock, which was immediately improved with PMX-DHP. PMX-DHP has been widely used for the treatment of sepsis to remove circulating endotoxins produced by Gram-negative bacteria, but beneficial effects have also been reported for Gram-positive bacterial infection. To our knowledge, this is the first report on PMX-DHP for TSS in an adolescent patient, and we propose that PMX-DHP could be a new treatment strategy for severe TSS in children as well. © 2016 Japan Pediatric Society.

Regulation of cell protrusions by small GTPases during fusion of the neural folds

PubMed Central

Rolo, Ana; Savery, Dawn; Escuin, Sarah; de Castro, Sandra C; Armer, Hannah EJ; Munro, Peter MG; Molè, Matteo A; Greene, Nicholas DE; Copp, Andrew J

2016-01-01

Epithelial fusion is a crucial process in embryonic development, and its failure underlies several clinically important birth defects. For example, failure of neural fold fusion during neurulation leads to open neural tube defects including spina bifida. Using mouse embryos, we show that cell protrusions emanating from the apposed neural fold tips, at the interface between the neuroepithelium and the surface ectoderm, are required for completion of neural tube closure. By genetically ablating the cytoskeletal regulators Rac1 or Cdc42 in the dorsal neuroepithelium, or in the surface ectoderm, we show that these protrusions originate from surface ectodermal cells and that Rac1 is necessary for the formation of membrane ruffles which typify late closure stages, whereas Cdc42 is required for the predominance of filopodia in early neurulation. This study provides evidence for the essential role and molecular regulation of membrane protrusions prior to fusion of a key organ primordium in mammalian development. DOI: http://dx.doi.org/10.7554/eLife.13273.001 PMID:27114066

Development of a tool to describe overall health, social independence and activity limitation of adolescents and young adults with disability.

PubMed

Deroche, Chelsea B; Holland, Margaret M; McDermott, Suzanne; Royer, Julie A; Hardin, James W; Mann, Joshua R; Salzberg, Deborah; Ozturk, Orgul; Ouyang, Lijing

2015-03-01

There is a need for research that focuses on the correlation between self-perceived quality of life (QoL) and the health outcomes of adolescents with disability transitioning to adulthood. To better understand the transition experience of adolescents and young adults with disability, we developed a questionnaire to assess the impact of disability on QoL. We recruited 174 participants who were 15-24 years old and diagnosed with Fragile X syndrome (FXS), spina bifida (SB) or muscular dystrophy (MD) and conducted an exploratory factor analysis to identify factors that characterize QoL. Five factors emerged: emotional health, physical health, independence, activity limitation, and community participation. To validate the tool, we linked medical claims and other administrative data records and examined the association of the factor scores with health care utilization and found the questionnaire can be utilized among diverse groups of young people with disability. Copyright © 2014 Elsevier Ltd. All rights reserved.

Use of the Family Interaction Macro-coding System with Families of Adolescents: Psychometric Properties Among Pediatric and Healthy Populations

PubMed Central

Zebracki, Kathy; Kichler, Jessica C.; Fitzgerald, Christopher J.; Neff Greenley, Rachel; Alemzadeh, Ramin; Holmbeck, Grayson N.

2011-01-01

Objective To examine reliability and validity data for the Family Interaction Macro-coding System (FIMS) with adolescents with spina bifida (SB), adolescents with type 1 diabetes mellitus (T1DM), and healthy adolescents and their families. Methods Sixty-eight families of children with SB, 58 families of adolescents with T1DM, and 68 families in a healthy comparison group completed family interaction tasks and self-report questionnaires. Trained coders rated family interactions using the FIMS. Results Acceptable interrater and scale reliabilities were obtained for FIMS items and subscales. Observed FIMS parental acceptance, parental behavioral control, parental psychological control, family cohesion, and family conflict scores demonstrated convergent validity with conceptually similar self-report measures. Conclusions Preliminary evidence supports the use of the FIMS with families of youths with SB and T1DM and healthy youths. Future research on overall family functioning may be enhanced by use of the FIMS. PMID:21097956

5,10 Methylenetetrahydrofolate reductase genetic polymorphism as a risk factor for neural tube defects

DOE Office of Scientific and Technical Information (OSTI.GOV)

Ou, C.Y.; Brown, V.K.; Khoury, M.J.

1996-06-28

Persons with a thermolabile form of the enzyme 5,10 methylenetetrahydrofolate reductase (MTHFR) have reduced enzyme activity and increased plasma homocysteine which can be lowered by supplemental folic acid. Thermolability of the enzyme has recently been shown to be caused by a common mutation (677C{sup {r_arrow}}T) in the MTHFR gene. We studied 41 fibroblast cultures from NTD-affected fetuses and compared their genotypes with those of 109 blood specimens from individuals in the general population. 677C{sup {r_arrow}}T homozygosity was associated with a 7.2 fold increased risk for NTDs (95% confidence interval: 1.8-30.3; p value: 0.001). These preliminary data suggest that the 677C{supmore » {r_arrow}}T polymorphism of the MTHFR gene is a risk factor for spina bifida and anencephaly that may provide a partial biologic explanation for why folic acid prevents these types of NTD. 13 refs., 1 fig., 1 tab.« less

Computer‐assisted surgical planning and intraoperative guidance in fetal surgery: a systematic review†

PubMed Central

Deprest, Jan; Vercauteren, Tom; Ourselin, Sebastien; David, Anna L.

2015-01-01

Abstract Fetal surgery has become a clinical reality, with interventions for twin‐to‐twin transfusion syndrome (TTTS) and spina bifida demonstrated to improve outcome. Fetal imaging is evolving, with the use of 3D ultrasound and fetal MRI becoming more common in clinical practise. Medical imaging analysis is also changing, with technology being developed to assist surgeons by creating 3D virtual models that improve understanding of complex anatomy, and prove powerful tools in surgical planning and intraoperative guidance. We introduce the concept of computer‐assisted surgical planning, and present the results of a systematic review of image reconstruction for fetal surgical planning that identified six articles using such technology. Indications from other specialities suggest a benefit of surgical planning and guidance to improve outcomes. There is therefore an urgent need to develop fetal‐specific technology in order to improve fetal surgical outcome. © 2015 The Authors. Prenatal Diagnosis published by John Wiley & Sons Ltd. PMID:26235960

Clinical details, cytogenic studies,and cellular physiology of a 69, XXX fetus, with comments on the biological effect of triploidy in man.

PubMed Central

Gosden, C M; Wright, M O; Paterson, W G; Grant, K A

1976-01-01

A triploid fetus, 69, XXX, aborted spontaneously at 26 weeks' gestation. It had multiple abnormalities including syndactyly of the hands and feet single palmar creases, hypoplasia of the adrenals and ovaries, hypertrophy of thigh muscles, and abnormalities of the brain. The placenta was large and showed hydatidiform degeneration. The pregnancy had been complicated by acute dyspnoea, pre-eclampsia, and postpartum haemorrhage. Detailed cytogenetic studies, using banding and fluorescence techniques, were performed on fetus and parents. Meiotic studies were made on the fetal ovaries. Muscle cell differentiation and electrophysiological relationships of cultured skin fibriblasts were examined in an attempt to study the way in which the extra haploid set of chromosomes exerts its effect on the phenotype. The antenatal diagnosis of late triploidy is discussed. The finding that 25 per cent of late triploids have spina bifida is further evidence that meningomyelocele has a genetic component and strongly suggests that this results from chromosomal imbalance or a regulatory gene disturbance. Images PMID:1034015

Timescales of magmatic processes prior to the ˜4.7 ka Agnano-Monte Spina eruption (Campi Flegrei caldera, Southern Italy) based on diffusion chronometry from sanidine phenocrysts

NASA Astrophysics Data System (ADS)

Iovine, Raffaella Silvia; Fedele, Lorenzo; Mazzeo, Fabio Carmine; Arienzo, Ilenia; Cavallo, Andrea; Wörner, Gerhard; Orsi, Giovanni; Civetta, Lucia; D'Antonio, Massimo

2017-02-01

Barium diffusion chronometry applied to sanidine phenocrysts from the trachytic Agnano-Monte Spina eruption (˜4.7 ka) constrains the time between reactivation and eruption of magma batches in the Campi Flegrei caldera. Backscattered electron imaging and quantitative electron microprobe measurements on 50 sanidine phenocrysts from representative pumice samples document core-to-rim compositional zoning. We focus on compositional breaks near the crystal rims that record magma mixing processes just prior to eruption. Diffusion times were modeled at a magmatic temperature of 930 °C using profiles based on quantitative BaO point analyses, X-ray scans, and grayscale swath profiles, yielding times ≤60 years between mixing and eruption. Such short timescales are consistent with volcanological and geochronological data that indicate that at least six eruptions occurred in the Agnano-San Vito area during few centuries before the Agnano-Monte Spina eruption. Thus, the short diffusion timescales are similar to time intervals between eruptions. Therefore, the rejuvenation time of magma residing in a shallow reservoir after influx of a new magma batch that triggered the eruption, and thus pre-eruption warning times, may be as short as years to a few decades at Campi Flegrei caldera.

Successful emergency pain control for posterior rib fractures with ultrasound-guided erector spinae plane block.

PubMed

Luftig, Josh; Mantuani, Daniel; Herring, Andrew A; Dixon, Brittany; Clattenburg, Eben; Nagdev, Arun

2017-12-28

The Eastern Association for the Surgery of Trauma and Trauma Anesthesiology Society Guidelines recommend prompt and effective multimodal analgesia for rib fractures that combines regional anesthesia (RA) techniques with pharmacotherapy to treat pain, optimize pulmonary function, and reduce opioid related complications. However, RA techniques such as epidurals and paravertebral blocks, are generally underutilized or unavailable for emergency department (ED) patients. The recently described serratus anterior plane block (SAPB) is a promising technique, but failures with posterior rib fractures have been observed. The erector spinae plane block (ESPB) is conceptually similar to the SAPB, but targets the posterior thorax making it likely more effective for ED patients with posterior rib fractures. Our initial experience demonstrates consistent success with the ESPB for traumatic posterior rib fracture analgesia. Herein, we present the first description of the ESPB utilized in the ED. Copyright © 2017 Elsevier Inc. All rights reserved.

77 FR 42229 - Gruma Corporation, Spina Bifida Association, March of Dimes Foundation, American Academy of...

Federal Register 2010, 2011, 2012, 2013, 2014

2012-07-18

... Academy of Pediatrics, Royal DSM N.V., and National Council of La Raza; Filing of Food Additive Petition... Raza had jointly filed a petition proposing that the food additive regulations be amended to provide... corrected to read ``Director, Office of Food Additive Safety, Center for Food Safety and Applied Nutrition...

77 FR 35317 - Gruma Corporation, Spina Bifida Association, March of Dimes Foundation, American Academy of...

Federal Register 2010, 2011, 2012, 2013, 2014

2012-06-13

... Academy of Pediatrics, Royal DSM N.V., and National Council of La Raza; Filing of Food Additive Petition... petition proposing that the food additive regulations be amended to provide for the safe use of folic acid...(b)(5) (21 U.S.C. 348(b)(5))), notice is given that a food additive petition (FAP 2A4796) has been...

Zizyphus spina-christi protects against carbon tetrachloride-induced liver fibrosis in rats.

PubMed

Amin, Amr; Mahmoud-Ghoneim, Doaa

2009-08-01

The study of chronic hepatic fibrosis has been receiving an escalating attention in the past two decades. The aim of the study was to examine the effects of the water extract of Zizyphus spina-christi (L.) (ZSC) on carbon tetrachloride (CCl(4))-induced hepatic fibrosis. ZSC extract was daily administered [alone (ZSC-control group) or along with CCl(4) (protected groups)] at 0.125 (low dose), 0.250 (medium dose) and 0.350 (high dose) g/kg b.wt. for 8 weeks. Histo-pathological, biochemical and histology texture analyses revealed that ZSC significantly impede the progression of hepatic fibrosis. ZSC resulted in a significant amelioration of liver injury judged by the reduced activities of serum ALT and AST. Oral administration of ZSC has also restored normal levels of malondialdehyde and retained control activities of endogenous antioxidants such as SOD, CAT and GSH. Furthermore, ZSC reduced the expression of alpha-smooth muscle actin, the deposition of types I and III collagen in CCl(4)-injured rats. Texture analysis of microscopic images along with fibrosis index calculation showed improvement in the quality of type I collagen distribution and its quantity after administration of ZSC extract. These results demonstrate that administration of ZSC may be useful in the treatment and prevention of hepatic fibrosis.

The contributions of Dr. Roswell Park to epilepsy and spinal surgery.

PubMed

Fine, E J; Reynolds, D; Soria, E D; Scalcione, L R; Fine, D L

1998-02-01

ROSWELL PARK, M.D., (1852-1914) is remembered for founding the world's first cancer institute that now bears his name a century ago, The Roswell Park Cancer Institute, and for an unfortunate association with the mortal wounding of President William McKinley in Buffalo, NY, in 1901. Park's accomplishments as a pioneer American neurosurgeon have been overlooked. After Park was appointed as Chair of Surgery at the University of Buffalo in 1884, he became the first American surgeon to precisely localize and remove a posttraumatic epileptic focus in the absence of external scars in 1886. Park introduced American physicians and surgeons to David Ferrier's research on localization of cerebral cortical function and Victor Horsley's techniques for extirpating epileptic foci. In 1895, Park became the first American surgeon to successfully treat spina bifida. In the same year, he wrote the first American monograph on surgery of the head. Park's case reports of successful operations on patients deemed almost incurable reveal boldness and ingenuity. Park's untimely death truncated a promising career.

Evidence for increased SOX3 dosage as a risk factor for X-linked hypopituitarism and neural tube defects.

PubMed

Bauters, Marijke; Frints, Suzanna G; Van Esch, Hilde; Spruijt, Liesbeth; Baldewijns, Marcella M; de Die-Smulders, Christine E M; Fryns, Jean-Pierre; Marynen, Peter; Froyen, Guy

2014-08-01

Genomic duplications of varying lengths at Xq26-q27 involving SOX3 have been described in families with X-linked hypopituitarism. Using array-CGH we detected a 1.1 Mb microduplication at Xq27 in a large family with three males suffering from X-linked hypopituitarism. The duplication was mapped from 138.7 to 139.8 Mb, harboring only two annotated genes, SOX3 and ATP11C, and was shown to be a direct tandem copy number gain. Unexpectedly, the microduplication did not fully segregate with the disease in this family suggesting that SOX3 duplications have variable penetrance for X-linked hypopituitarism. In the same family, a female fetus presenting with a neural tube defect was also shown to carry the SOX3 copy number gain. Since we also demonstrated increased SOX3 mRNA levels in amnion cells derived from an unrelated t(X;22)(q27;q11) female fetus with spina bifida, we propose that increased levels of SOX3 could be a risk factor for neural tube defects. © 2014 Wiley Periodicals, Inc.

Postnatal outcome of congenital anomalies in low resource setting.

PubMed

Kumar, Manisha; Sharma, Sumedha; Bhagat, Manisha; Gupta, Usha; Anand, Rama; Puri, Archana; Singh, Anuradha; Singh, Abha

2013-10-01

This study aimed to determine the postnatal outcome of congenital malformations in a tertiary care hospital of India. This was a prospective study of all women with prenatally detected major congenital malformations. Postnatal follow-up of live born babies was carried out for 1 year. There were 574 cases with major congenital anomalies, 523 of which were fully followed. Only 69 women (13.6%) had the initial scan before 20 weeks of gestation. Craniospinal defects were the most common (42.7%), followed by genitourinary anomalies (28%). There was no live birth in cases such as anencephaly, iniencephaly, bilateral renal agenesis, gastroschisis, and cystic hygroma. Survival at 1 year was less than 25% in spina bifida, bilateral cystic kidneys, complex cardiac disease, and non-immune hydrops fetalis. In cases with mild hydrocephalus or unilateral and mild renal disease, the survival was over 75%. In India, the majority of congenital anomalies present late in gestation. Although fetal outcome is invariably poor for severe defects, existing legislation in the country leaves pregnancy continuation as the only option. © 2013 John Wiley & Sons, Ltd.

Developmental mechanisms of intervertebral disc and vertebral column formation.

PubMed

Lawson, Lisa Y; Harfe, Brian D

2017-11-01

The vertebral column consists of repeating units of ossified vertebrae that are adjoined by fibrocartilagenous intervertebral discs. These structures form from the embryonic notochord and somitic mesoderm. In humans, congenital malformations of the vertebral column include scoliosis, kyphosis, spina bifida, and Klippel Feil syndrome. In adulthood, a common malady affecting the vertebral column includes disc degeneration and associated back pain. Indeed, recent reports estimate that low back pain is the number one cause of disability worldwide. Our review provides an overview of the molecular mechanisms underlying vertebral column morphogenesis and intervertebral disc development and maintenance, with an emphasis on what has been gleaned from recent genetic studies in mice. The aim of this review is to provide a developmental framework through which vertebral column formation can be understood so that ultimately, research scientists and clinicians alike can restore disc health with appropriately designed gene and cell-based therapies. WIREs Dev Biol 2017, 6:e283. doi: 10.1002/wdev.283 For further resources related to this article, please visit the WIREs website. © 2017 Wiley Periodicals, Inc.

Sexual functioning of adult patients born with meningomyelocele. A pilot study.

PubMed

Vroege, J A; Zeijlemaker, B Y; Scheers, M M

1998-01-01

This pilot study was started to get an impression of the sexual activity and sexual difficulties of adult patients born with meningomyelocele in control at Utrecht University Hospital, and to find out whether these problems deserve more attention from the Spina Bifida Team. Seventeen patients (9 men, 8 women; aged 19-44) were asked to participate; 11 (8 men, 3 women) decided to take part in this study. All these patients were interviewed by their physician about their present sexual life; 6 of them also completed the 'Questionnaire for screening Sexual Dysfunctions' (QSD). With 1 exception, all patients expressed a desire for sexual contact. Five of them masturbated and 6 patients sometimes had sexual contact. Eight patients had problems in the field of sexuality, but only 3 were dissatisfied with their present sexual life. It is advantageous to invite adult patients born with meningomyelocele for an interview about their sexual life. When raising this subject, however, one has to act with caution: for quite a few patients (in this study mostly women) sexuality still is a delicate subject.

[Congenital malformations in the offspring of epileptic mothers with and without anticonvulsant treatment].

PubMed

Arteaga-Vázquez, Jazmín; Luna-Muñoz, Leonora; Mutchinick, Osvaldo M

2012-01-01

To determine the prevalence at birth and type of congenital malformations (CM) in newborns of epileptic mothers (NEM) treated and not treated with anticonvulsants, the correlation anticonvulsant/CM and other developmental disorders. Multicenter case-control study, in 166 live births NEM diagnosed in 21 501 newborns with CM and respective controls from the Registro y Vigilancia Epidemiológica de Malformaciones Congénitas (RYVEMCE). The frequency of CM in NEM treated with anticonvulsants was higher (48.3%) than in NEM of untreated mothers (28.3%), (OR= 2.37 IC95% 1.08-5.40), p=0.03. CMs most frequently found were: spina bifida, limb reduction defects, cleft lip palate, microcephaly, anotia/microtia, hypospadias, polydactyly, cleft palate, anophthalmia/ microphthalmia and omphalocele. No differences among monotherapy and polytherapy were observed. Diphenyl-hydantoin, carbamazepine and valproic acid were the most frequently anticonvulsants used. Our results show the teratogenicity of epilepsy by itself, the synergistic effect of some anticonvulsants, and the need of an appropriate periconceptional control of the disease and treatment.

Puppets, robots, critics, and actors within a taxonomy of attention for developmental disorders

PubMed Central

DENNIS, MAUREEN; SINOPOLI, KATIA J.; FLETCHER, JACK M.; SCHACHAR, RUSSELL

2008-01-01

This review proposes a new taxonomy of automatic and controlled attention. The taxonomy distinguishes among the role of the attendee (puppet and robot, critic and actor), the attention process (stimulus orienting vs. response control), and the attention operation (activation vs. inhibition vs. adjustment), and identifies cognitive phenotypes by which attention is overtly expressed. We apply the taxonomy to four childhood attention disorders: attention deficit hyperactivity disorder, spina bifida meningomyelocele, traumatic brain injury, and acute lymphoblastic leukemia. Variations in attention are related to specific brain regions that support normal attention processes when intact, and produce disordered attention when impaired. The taxonomy explains group differences in behavioral inattention, hyperactivity, and impulsiveness, as well as medication response. We also discuss issues relevant to theories of the cognitive and neural architecture of attention: functional dissociations within and between automatic and controlled attention; the relative importance of type of brain damage and developmental timing to attention profile; cognitive-energetic models of attention and white matter damage; temporal processing deficits, attention deficits and cerebellar damage; and the issue of cognitive phenotypes as candidate endophenotypes. PMID:18764966

Anophthalmia-plus syndrome: a clinical report and review of the literature.

PubMed

Makhoul, Imad R; Soudack, Michalle; Kochavi, Orna; Guilburd, Joseph N; Maimon, Shimon; Gershoni-Baruch, Ruth

2007-01-01

We describe a term male infant of healthy non-consanguineous parents, born with congenital malformations, including bilateral cleft palate and lip, mild microphthalmia with iris coloboma and glaucoma of the right eye, and blepharophimosis with severe microphthalmia of the left eye. Spine radiograph and MRI showed first sacral hemivertebra with spina bifida, and agenesis of the 2nd, 3rd, 4th, and 5th sacral vertebrae and coccyx. Spine MRI showed caudal tethering of spinal cord at L(3) level, filum terminalis lipoma and a syringomyelia. Brain ultrasound and MRI showed hypoplasia of corpus callosum with mild dilatation of the lateral ventricles. Orbital MRI showed bilateral microphthalmia-distorted small left eyeball with posteriorly located lens, and a split vitreous body in the right eye, suggestive of primary hyperplastic vitreous. The karyotype was normal. Summary of the findings in nine cases (our case and eight published cases) support the notion that anophthalmia-plus syndrome (APS) is a distinct syndrome. Gene locus of APS is yet to be identified. (c) 2006 Wiley-Liss, Inc.

When does mass screening for open neural tube defects in low-risk pregnancies result in cost savings?

PubMed Central

Tosi, L L; Detsky, A S; Roye, D P; Morden, M L

1987-01-01

Using a decision analysis model, we estimated the savings that might be derived from a mass prenatal screening program aimed at detecting open neural tube defects (NTDs) in low-risk pregnancies. Our baseline analysis showed that screening v. no screening could be expected to save approximately $8 per pregnancy given a cost of $7.50 for the maternal serum alpha-feto-protein (MSAFP) test and a cost of $42,507 for hospital and rehabilitation services for the first 10 years of life for a child with spina bifida. When a more liberal estimate of the costs of caring for such a child was used, the savings with the screening program were more substantial. We performed extensive sensitivity analyses, which showed that the savings were somewhat sensitive to the cost of the MSAFP test and highly sensitive to the specificity (but not the sensitivity) of the test. A screening program for NTDs in low-risk pregnancies may result in substantial savings in direct health care costs if the screening protocol is followed rigorously and efficiently. PMID:2433011

Implications of family environment and language development: comparing typically developing children to those with spina bifida.

PubMed

Vachha, B; Adams, R

2009-09-01

This study examines the effect of family environment on language performance in children with myelomeningocele compared with age- and education-matched controls selected from the same geographic region. Seventy-five monolingual (English) speaking children with myelomeningocele [males: 30; ages: 7-16 years; mean age: 10 years 1 month, standard deviation (SD) 2 years 7 months] and 35 typically developing children (males: 16; ages 7-16 years; mean age: 10 years 9 months, SD 2 years 6 months) participated in the study. The Comprehensive Assessment of Spoken Language (CASL) and the Wechsler tests of intelligence were administered individually to all participants. The CASL measures four subsystems: lexical, syntactic, supralinguistic and pragmatic. Parents completed the Family Environment Scale (FES) questionnaire and provided background demographic information. Standard independent sample t-tests, chi-squared and Fisher's exact tests were used to make simple comparisons between groups for age, socio-economic status, gender and ethnicity. Spearman correlation coefficients were used to detect associations between language and FES data. Group differences for the language and FES scores were analysed with a multivariate analysis of variance at a P-value of 0.05. For the myelomeningocele group, both Spearman correlation and partial correlation analyses revealed statistically significant positive relationships for the FES 'intellectual-cultural orientation' (ICO) variable and language performance in all subsystems (P < 0.01). For controls, positive associations were seen between: (1) ICO and lexical/semantic and syntactic subsystems; and (2) FES 'independence' and lexical/semantic and supralinguistic tasks. The relationship between language performance and family environment appears statistically and intuitively sound. As in our previous study, the positive link between family focus on intellectually and culturally enhancing activities and language performance among children with myelomeningocele and shunted hydrocephalus remains robust. Knowledge of this relationship should assist parents and professionals in supporting language development through activities within the natural learning environment.

Transitional Vertebra and Spina Bifida Occulta Related with Chronic Low Back Pain in a Young Patient

PubMed Central

Habib, Maham; Babar, Sumbal; Kundi, Asif K; Assad, Salman; Sheikh, Amjad

2016-01-01

Bertolotti’s syndrome (BS) must be considered as a differential diagnosis in a young patient presenting with low back pain (LBP). We present a case of a 26-year-old male complaining of mild chronic LBP for six years, radiating to his left thigh for the past six months. He has been taking non-steroidal anti-inflammatory drugs (NSAIDs) with skeletal muscle relaxants for pain relief. The X-ray and computed tomography (CT) imagings showed congenital enlargement of the left transverse process of the fifth lumbar (L5) vertebra forming pseudo-articulation with the sacrum and unilateral pars interarticularis defect at the L4 level on the left side, respectively. He has managed with gabapentin 100 mg three times a day for his neuropathic left leg pain. On follow-up, the patient reported that his pain has improved with gabapentin and it decreased from 8/10 to 4/10 on the visual analogue scale. PMID:27904817

Transitional Vertebra and Spina Bifida Occulta Related with Chronic Low Back Pain in a Young Patient.

PubMed

Kundi, Maryam; Habib, Maham; Babar, Sumbal; Kundi, Asif K; Assad, Salman; Sheikh, Amjad

2016-10-19

Bertolotti's syndrome (BS) must be considered as a differential diagnosis in a young patient presenting with low back pain (LBP). We present a case of a 26-year-old male complaining of mild chronic LBP for six years, radiating to his left thigh for the past six months. He has been taking non-steroidal anti-inflammatory drugs (NSAIDs) with skeletal muscle relaxants for pain relief. The X-ray and computed tomography (CT) imagings showed congenital enlargement of the left transverse process of the fifth lumbar (L5) vertebra forming pseudo-articulation with the sacrum and unilateral pars interarticularis defect at the L4 level on the left side, respectively. He has managed with gabapentin 100 mg three times a day for his neuropathic left leg pain. On follow-up, the patient reported that his pain has improved with gabapentin and it decreased from 8/10 to 4/10 on the visual analogue scale.

Highly diverse endophytes in roots of Cycas bifida (Cycadaceae), an ancient but endangered gymnosperm.

PubMed

Zheng, Ying; Chiang, Tzen-Yuh; Huang, Chao-Li; Gong, Xun

2018-05-01

As an ancient seed plant, cycads are one of the few gymnosperms that develop a root symbiosis with cyanobacteria, which has allowed cycads to cope with harsh geologic and climatic conditions during the evolutionary process. However, the endophytic microbes in cycad roots remain poorly identified. In this study, using next-generation sequencing techniques, we investigated the microbial diversity and composition of both the coralloid and regular roots of Cycas bifida (Dyer) K.D. Hill. Highly diverse endophytic communities were observed in both the coralloid and regular roots. Of the associated bacteria, the top five families were the Nostocaceae, Sinobacteraceae, Bradyrhizobiaceae, Bacillaceae, and Hyphomicrobiaceae. The Nectriaceae, Trichocomaceae, and Incertae sedis were the predominant fungal families in all root samples. A significant difference in the endophytic bacterial community was detected between coralloid roots and regular roots, but no difference was observed between the fungal communities in the two root types. Cyanobacteria were more dominant in coralloid roots than in regular roots. The divergence of cycad root structures and the modified physiological processes may have contributed to the abundance of cyanobionts in coralloid roots. Consequently, the colonization of cyanobacteria inhibits the assemblage of other endophytes. Our results contribute to an understanding of the species diversity and composition of the cycad-endophyte microbiome and provide an abbreviated list of potential ecological roles of the core microbes present.

Lumbar multifidus and erector spinae electromyograms during back bridge exercise in time and frequency domains.

PubMed

Mello, Roger Gomes Tavares; Carriço, Igor Rodrigues; da Matta, Thiago Torres; Nadal, Jurandir; Oliveira, Liliam Fernandes

2016-01-01

Muscle activity is studied during trunk stabilization exercises using electromyograms (EMG) in time domain. However, the frequency domain analysis provides information that would be important to understand fatigue process. To assess EMG of lumbar multifidus (LM) and erector spinae (ES) muscles, in time and frequency domains, during back bridge exercise. Nineteen healthy young men performed the exercise for one minute and EMG was monitored by surface electromyography. Normalized root mean square (RMS) value and spectral median frequency (MF) were compared between beginning and final epochs of test. The dynamics of the MF during whole test was also obtained by short-time Fourier transform. RMS values were about 30% of maximum voluntary contraction, and LM muscle showed greater MF than ES, which did not decrease at the final of exercise. However, the slope of MF was significant mainly for LM. Muscle activation of 30% is sufficient to keep lumbar stability and is suitable to improve muscular endurance. The significance of MF slope without decreasing at the final of exercise indicates challenging muscular endurance without imply on high fatigability. Due to lower muscular demand, this exercise might be recommended for trunk stabilizing for low back pain patients.

Patient safety in the rehabilitation of children with spinal cord injuries, spina bifida, neuromuscular disorders, and amputations.

PubMed

Cancel, David; Capoor, Jaishree

2012-05-01

Pediatric patient safety continues to challenge both pediatricians and pediatric physiatrists. While there is a trend toward developing general patient safety initiatives, there is little research on pediatric patient safety. This article identifies major areas of general safety risk, with a focus on timely diagnosis and care coordination to prevent secondary complications that compromise health, function, and quality of life in pediatric neuromuscular disease, spinal cord disorders, and amputation. Copyright © 2012 Elsevier Inc. All rights reserved.