WorldWideScience

Sample records for spina bifida research

  1. Spina Bifida

    Science.gov (United States)

    Spina bifida is a neural tube defect - a type of birth defect of the brain, spine, or spinal ... cord. Screening tests during pregnancy can check for spina bifida. Sometimes it is discovered only after the baby ...

  2. Spina Bifida

    Science.gov (United States)

    ... help the person to be healthy and as independent as possible. What Is Life Like for Kids With Spina Bifida? Living with spina bifida isn't exactly the same for each kid who has it. But for most kids, it means taking extra care of their bodies and paying attention if something seems wrong. It ...

  3. Spina Bifida

    Science.gov (United States)

    ... same country or region, who share language or culture. Spina bifida and other NTDs are more common in Caucasians and Hispanics and less common among Ashkenazi Jews, most Asian groups and African- Americans. Folic acid. Folic acid ...

  4. Neurosurgical Management of Spina Bifida: Research Issues

    Science.gov (United States)

    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…

  5. Spina Bifida Clinic Directory

    Science.gov (United States)

    ... Support Events & Participants 100 Ways for SB Team Spina Bifida Find a Participant Walk-N-Roll for SB ... Ways for SB Education Days National Conference Team Spina Bifida Walk-N-Roll for Spina Bifida World Congress ...

  6. Spina bifida.

    Science.gov (United States)

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

    2015-04-30

    Spina bifida is a birth defect in which the vertebral column is open, often with spinal cord involvement. The most clinically significant subtype is myelomeningocele (open spina bifida), which is a condition characterized by failure of the lumbosacral spinal neural tube to close during embryonic development. The exposed neural tissue degenerates in utero, resulting in neurological deficit that varies with the level of the lesion. Occurring in approximately 1 per 1,000 births worldwide, myelomeningocele is one of the most common congenital malformations, but its cause is largely unknown. The genetic component is estimated at 60-70%, but few causative genes have been identified to date, despite much information from mouse models. Non-genetic maternal risk factors include reduced folate intake, anticonvulsant therapy, diabetes mellitus and obesity. Primary prevention by periconceptional supplementation with folic acid has been demonstrated in clinical trials, leading to food fortification programmes in many countries. Prenatal diagnosis is achieved by ultrasonography, enabling women to seek termination of pregnancy. Individuals who survive to birth have their lesions closed surgically, with subsequent management of associated defects, including the Chiari II brain malformation, hydrocephalus, and urological and orthopaedic sequelae. Fetal surgical repair of myelomeningocele has been associated with improved early neurological outcome compared with postnatal operation. Myelomeningocele affects quality of life during childhood, adolescence and adulthood, posing a challenge for individuals, families and society as a whole. For an illustrated summary of this Primer, visit: http://go.nature.com/fK9XNa.

  7. Spina bifida (image)

    Science.gov (United States)

    Spina bifida is a congenital disorder (birth defect) in which the backbone and spinal canal do not close ... membranes protruding out of an affected infant's back. Spina bifida may also be nearly inconsequential, or may be ...

  8. Genetics Home Reference: spina bifida

    Science.gov (United States)

    ... Email Facebook Twitter Home Health Conditions Spina bifida Spina bifida Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Spina bifida is a condition in which the neural tube, ...

  9. Test Your Knowledge of Spina Bifida

    Science.gov (United States)

    ... Submit Button Past Emails Test Your Knowledge of Spina Bifida Language: English (US) Español (Spanish) Recommend on Facebook ... at every age for those with spina bifida. Spina Bifida Videos The Spina Bifida Experience Managing Medical Care ...

  10. Spina Bifida Data and Statistics

    Science.gov (United States)

    ... Us Information For… Media Policy Makers Data and Statistics Recommend on Facebook Tweet Share Compartir Spina bifida ... the spine. Read below for the latest national statistics on spina bifida in the United States. In ...

  11. Updates in fetal spina bifida repair.

    Science.gov (United States)

    Blumenfeld, Yair J; Belfort, Michael A

    2018-04-01

    To examine updates in fetal spina bifida surgical repair, as well as promising results emerging from translational medicine. Although the Management of Myelomeningocele Study sponsored by the National Institutes of Health helped establish the neonatal benefits of prenatal spina bifida repair via uterine hysterotomy, also known as 'open' fetal surgery, fetoscopic approaches may yield better maternal and obstetric outcomes. Spina bifida is a severe congenital malformation associated with significant neonatal and childhood morbidity and mortality. Although 'open' fetal spina bifida repair has become the standard prenatal surgical approach due to proven neonatal benefit, this approach is associated with significant maternal and obstetric risks. Recent developments from multidisciplinary clinical and translational research have highlighted the potential for novel fetoscopic surgical approaches to decrease maternal morbidity and reduce obstetric risks. Moreover, novel stem cell therapies coupled with in-utero medical approaches targeting the pathophysiological pathways associated with spina bifida are likely to make additional significant impact.

  12. Spina Bifida Association of America

    Science.gov (United States)

    Exceptional Parent, 1974

    1974-01-01

    The Statement of the Spina Bifida Association of America (SBAA) explains SB as a malformation of the central nervous system, reports the formation of SBAA in 1974, explains SBAA's emphasis on local chapter organization, and describes SBAA services, including a bimonthly publication, public education efforts, and research validation projects. (GW)

  13. Hydrocephalus in spina bifida

    African Journals Online (AJOL)

    Incidence. Hydrocephalus is one of the most common complications of spinal dysraphism.[1] It is associated mainly with the open form of spina bifida, and this article focuses specifically on this group of patients. Most children who develop symptomatic hydrocephalus do so sometime within the first few days or weeks ...

  14. Spina Bifida and Motherhood.

    Science.gov (United States)

    Drakes, Olive

    1984-01-01

    Two women with spina bifida, a disability in which the spinal cord and nerves are damaged, gave birth to healthy babies. The article points out the need to provide young girls having this condition with information and counseling regarding sexual relationships, parenthood, and child rearing. (CL)

  15. Quality of Life in Individuals with Spina Bifida: A Research Update

    Science.gov (United States)

    Sawin, Kathleen J.; Bellin, Melissa H.

    2010-01-01

    Quality of life (QOL) is an important concept for individuals with chronic health conditions. Measuring and supporting QOL in children, adolescents, and adults with spina bifida (SB) may be especially unique given the broad range of complex health and rehabilitative challenges they encounter. This article provides a research update on (a)…

  16. Spina bifida and sexuality

    DEFF Research Database (Denmark)

    von Linstow, Michael Ernst; Biering-Sørensen, Ida; Liebach, Annette

    2014-01-01

    OBJECTIVE: To evaluate sexual function amongst adult individuals with spina bifida and to register their subjective satisfaction with their sexual life and relationships. SETTING: Department for Spinal Cord Injuries, East Denmark. STUDY DESIGN AND METHODS: Cohort study. Medical record information......, neurological examination, personal interview, Functional Independence Measure (FIMTM), Medical Outcome Study Short Form 36 (SF-36) on quality of life, and questions on sexual function and related topics. Study cohort: Fifty-three participants (27 women, 26 men) with spina bifida (mean age 27.1, range 18......-35) years. Response rate 74%. RESULTS: Fifty-one percent of subjects regarded their sexual life as a failure or dysfunctional. However, 45% reported being satisfied with their sexual life. Participants with partners were more satisfied with their sexual life than those without partners. Faecal...

  17. DNA methylation studies in Spina Bifida:DNA methylatie studies in Spina Bifida

    OpenAIRE

    Rochtus, Anne

    2016-01-01

    GENERAL INTRODUCTION Chapter 1: Introduction to neural tube defects. Chapter 2: Folate, DNA methylation and neural tube defects. THESIS OBJECTIVES & OVERVIEW RESEARCH Chapter 3: DNA methylation of Homeobox genes in Spina Bifida. Chapter 4: Genome-wide DNA methylation in Spina Bifida. Chapter 5: Genome-wide DNA methylation in Pseudohypoparathyroidism. DISCUSSION REFERENCES SCIENTIFIC SUMMARY DANKWOORD CURRICULUM VITAE

  18. Spina bifida and sexuality.

    Science.gov (United States)

    von Linstow, Michael Ernst; Biering-Sørensen, Ida; Liebach, Annette; Lind, Marianne; Seitzberg, Aase; Hansen, Rikke Bølling; Biering-Sørensen, Fin

    2014-10-01

    To evaluate sexual function amongst adult individuals with spina bifida and to register their subjective satisfaction with their sexual life and relationships. Department for Spinal Cord Injuries, East Denmark. Cohort study. Medical record information, neurological examination, personal interview, Functional Independence Measure (FIMTM), Medical Outcome Study Short Form 36 (SF-36) on quality of life, and questions on sexual function and related topics. Study cohort: Fifty-three participants (27 women, 26 men) with spina bifida (mean age 27.1, range 18-35) years. Response rate 74%. Fifty-one percent of subjects regarded their sexual life as a failure or dysfunctional. However, 45% reported being satisfied with their sexual life. Participants with partners were more satisfied with their sexual life than those without partners. Faecal, but not urinary, incontinence was associated with poorer sexual function and less satisfaction. Forty-nine percent of subjects indicated that the sexual education they received at puberty was useful; however, 32% lacked knowledge about their sexual functioning with regard to their disability. There is a need for further sexual education and counselling for adults with spina bifida in order to improve their sexuality and quality of life.

  19. The Child with Spina Bifida.

    Science.gov (United States)

    Anderson, Elizabeth M.; Spain, Bernie

    Intended for parents as well as professionals, the text provides information and practical suggestions on dealing with spina bifida and hydrocephalus. Part I (chapters 1 and 2) concentrates on the medical and physical aspects of the condition with discussions covering such areas as spina bifida's development, locomotor problems, and the role of…

  20. Spina bifida and parental occupation

    NARCIS (Netherlands)

    Blatter, B.M.

    1997-01-01

    The aims of this thesis were: (1) to identify parental occupations with an increased risk of spina bifida in offspring; (2) to study whether parental occupational exposure to chemicals or radiation during or shortly before pregnancy is a risk factor for the occurrence of spina bifida. In order to

  1. [Foetal therapy for spina bifida

    NARCIS (Netherlands)

    Eggink, A.J.; Willemsen, M.A.A.P.; et al.,

    2012-01-01

    - Spina bifida is the most common congenital birth defect involving the central nervous system. It results in central and peripheral abnormalities.- Patients with severe spina bifida may have a lifelong disability with dependence on medical and social supportive care.- A randomized controlled trial

  2. Living with spina bifida.

    Science.gov (United States)

    Fosdal, M O

    1992-10-01

    Health care workers are normally the ones who surround family members as they first begin to cope with spina bifida. It is important to assess family stressors and work with family members to formulate a care plan which assists them to cope with this child. Helping these children grow in society, within our schools and in their jobs, shows that continual observations and interventions may be necessary to maintain optimal growth. I have had the opportunity here to share personal experiences. I can truly say that I look forward to the opportunities ahead and realize that success lies not in my job, but within me.

  3. Surgery on Fetus Reduces Complications of Spina Bifida

    Medline Plus

    Full Text Available ... Research Priorities Funding Opportunities & Notices Contract Opportunities Grants Process, Policies & ... Video: Surgery on Fetus Reduces Complications of Spina Bifida Share ...

  4. Living with Spina Bifida (at different ages)

    Science.gov (United States)

    ... Us Information For… Media Policy Makers Living With Spina Bifida Language: English (US) Español (Spanish) Recommend on Facebook ... of the website provides information about living with spina bifida at different ages. Meeting the complex needs of ...

  5. Frequently Asked Questions about Spina Bifida

    Science.gov (United States)

    ... urologic care and management . Q: Are people with Spina Bifida at higher risk of developing type 2 diabetes? ... on obesity and diabetes . Q: Are people with Spina Bifida at increased risk of getting osteoporosis? A: 50% ...

  6. Spina bifida (degrees of severity) (image)

    Science.gov (United States)

    Spina bifida is a congenital disorder (birth defect) in which the backbone and spinal canal do not close ... membranes protruding out of an affected infant's back. Spina bifida may also be nearly inconsequential, or may be ...

  7. Spina Bifida. Fact Sheet = Espina Bifida. Hojas Informativas Sobre Discapacidades.

    Science.gov (United States)

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

    This fact sheet offers definitions of the three types of spina bifida (spina bifida occulta, meningocele, and myelomeningocele), outlines their incidence, describes characteristics of individuals with spina bifida, and reviews educational implications. The fact sheet discusses the need for many children with myelomeningocele to learn to manage…

  8. Obesity Prevention for Individuals with Spina Bifida.

    Science.gov (United States)

    Polfuss, Michele; Bandini, Linda G; Sawin, Kathleen J

    2017-06-01

    Obesity is a common comorbidity in individuals with spina bifida. Carrying excess weight exacerbates the inherent health challenges associated with spina bifida, impedes the individual's ability to self-manage their condition, and creates further challenges for family members and caregivers. This manuscript provides a narrative review of key issues for understanding and prevention of obesity in persons with spina bifida within the context of the social ecological model. Specific variables related to obesity and spina bifida include individual factors (i.e., body composition and measurement issues, energy needs, eating patterns, physical activity, and sedentary activity) family factors (i.e., parenting/family, peers), community factors (i.e., culture, built environment, healthcare and healthcare providers, and school), and societal factors (i.e., policy issues). Due to the complex etiology of obesity and its increased prevalence in individuals with spina bifida, it is critical to initiate prevention efforts early with a multifactorial approach for this at-risk population. Increased research is warranted to support these efforts.

  9. The natural history of spina bifida in children pilot project: research protocol.

    Science.gov (United States)

    Alriksson-Schmidt, Ann I; Thibadeau, Judy K; Swanson, Mark E; Marcus, David; Carris, Kari L; Siffel, Csaba; Ward, Elisabeth

    2013-01-25

    Population-based empirical information to inform health care professionals working with children with spina bifida currently is lacking. Spina bifida is a highly complex condition that not only affects mobility but many additional aspects of life. We have developed a pilot project that focuses on a broad range of domains: surgeries, development and learning, nutrition and physical growth, mobility and functioning, general health, and family demographics. Specifically, we will: (1) explore the feasibility of identifying and recruiting participants using different recruitment sources, (2) test a multidisciplinary module to collect the data, (3) determine the utility of different methods of retrieving the data, and (4) summarize descriptive information on living with spina bifida. The overall objective of the project was to provide information for a future multistate prospective study on the natural history of spina bifida. Families with a child 3 to 6 years of age with a diagnosis of spina bifida were eligible for enrollment. Eligible families were identified through a US population-based tracking system for birth defects and from a local spina bifida clinic. This is an ongoing project with first results expected in 2013. This project, and the planned multistate follow-up project, will provide information both to health care professionals experienced in providing care to patients with spina bifida, and to those who have yet to work with this population. The long-term purpose of this project is to increase the knowledge about growing up with spina bifida and to guide health care practices by prospectively studying a cohort of children born with this condition.

  10. Optimizing Health Care for Children with Spina Bifida

    Science.gov (United States)

    Liptak, Gregory S.; El Samra, Ahmad

    2010-01-01

    The health care needs of children with spina bifida are complex. They need specialists, generalists, and an integrated system to deliver this complex care and to align and inform all the providers. Most research in spina bifida has been focused on narrow medical outcomes; it has been noncollaborative, based on small samples of convenience, with no…

  11. Psychosocial and Family Functioning in Spina Bifida

    Science.gov (United States)

    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…

  12. How Do Health Care Providers Diagnose Spina Bifida?

    Science.gov (United States)

    ... Email Print How do health care providers diagnose spina bifida? Doctors diagnose spina bifida before or after the infant is born. Spina bifida occulta might not be identified until late childhood ...

  13. Orthopedic Management of Spina Bifida

    Science.gov (United States)

    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…

  14. Urologic Management of Spina Bifida

    Science.gov (United States)

    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,…

  15. Mathematical Development in Spina Bifida

    Science.gov (United States)

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

    2009-01-01

    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…

  16. Pregnancy outcomes of women with spina bifida.

    Science.gov (United States)

    Auger, Nathalie; Arbour, Laura; Schnitzer, Mireille E; Healy-Profitós, Jessica; Nadeau, Geneviève; Fraser, William D

    2018-01-12

    To assess the pregnancy outcomes of women with spina bifida. We analyzed a population-based cohort of 397 pregnant women with spina bifida and 1,083,211 without spina bifida who delivered infants in hospitals in Quebec, Canada, 1989-2013. Outcomes included maternal and infant morbidity and mortality at delivery. We used log-binomial regression models to estimate prevalence ratios (PR) and 95% confidence intervals (CI) for the association of maternal spina bifida with pregnancy outcomes, accounting for maternal characteristics. Women with spina bifida had a higher prevalence of several adverse outcomes compared with women who had no birth defects. Maternal risks were highest for intensive care unit admission during the delivery hospitalization (PR 3.41, CI 95% 1.56-7.43) and respiratory morbidity (PR 9.46, CI 95% 3.31-26.99). Infant risks were greatest for intracranial hemorrhage (PR 6.85, CI 95% 2.23-21.08), birth hypoxia (PR 1.64, CI 95% 1.21-2.22), and hospital length of stay ≥14 days (PR 2.56, CI 95% 1.58-4.15). After adjustment for confounders, maternal spina bifida was associated with risk of oral clefts and abdominal wall defects in infants. Women with spina bifida have an increased risk of severe maternal and infant complications at delivery, compared with no spina bifida. Implications for Rehabilitation A growing number of women with spina bifida achieve pregnancy, but pregnancy outcomes are poorly understood. In a large pregnancy cohort, women with spina bifida had a high risk of severe maternal and infant morbidity at delivery. Women with spina bifida may benefit from enhanced periconceptional counseling and obstetric monitoring by health professionals. Guidelines should be developed for rehabilitation care providers to improve the obstetric management of women with spina bifida.

  17. Fetal Endoscopic Surgery for Spina Bifida

    Science.gov (United States)

    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

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

    Science.gov (United States)

    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…

  19. Spina Bifida, Meningomyelocele, and Meningocele.

    Science.gov (United States)

    Song, Rachel B; Glass, Eric N; Kent, Marc

    2016-03-01

    Spina bifida with or without meningocele or meningomyelocele is encountered infrequently in small animal practice. The English bulldog and Manx cat are breeds predisposed. Although often silent clinically, in those animals with clinical signs, it is important to recognize the signs early and to understand the appropriate imaging modalities employed in establishing a diagnosis. In a select population of affected animals, proposed surgical intervention may be considered to prevent neurologic decline, prevent secondary complications, and potentially improve outcomes. Published by Elsevier Inc.

  20. Scorecard for spina bifida research, prevention, and policy - A development process.

    Science.gov (United States)

    Kancherla, Vijaya; Walani, Salimah R; Weakland, Aliki P; Bauwens, Lieven; Oakley, Godfrey P; Warf, Benjamin C

    2017-06-01

    Spina bifida is a serious and largely preventable neural tube birth defect and an important cause of mortality and lifelong disability. The People and Organizations United for Spina Bifida and Hydrocephalus (PUSH!) Global Alliance was formed in 2014 to provide a common platform for various organizations worldwide to raise the visibility of spina bifida and hydrocephalus. In its formative phase, the alliance recognized that in order to accelerate surveillance, prevention, and care for these conditions, there was a need to provide an evidence-based assessment of how nations are performing in specific areas. In this paper, we describe the impetus for, and the process of, developing country-level scorecards for spina bifida surveillance, prevention and care. The PUSH! Executive Committee formulated a comprehensive list of six actionable indicators measuring availability of published studies on population-based folate studies; surveillance of prevalence and mortality; prevention-based policies; access to care; and quality of life associated with spina bifida. Rubrics were developed to score each country on the aforementioned indicators. Country scores were pooled across each indicator and the composite scores ranged between zero and three if there was a need for improvement, four and five if they were in good standing, or six for an excellent status. The scorecard included country-specific recommendations assimilated from the literature and published guidelines to aid policy makers in accelerating surveillance and prevention, and improving the care and quality of life indicators. For comparison, country-level scorecards were grouped by WHO-regions. Score cards were made available publicly through the website "www.pu-sh.org". Copyright © 2017 Elsevier Inc. All rights reserved.

  1. Spina Bifida. NICHCY Disability Fact Sheet #12

    Science.gov (United States)

    National Dissemination Center for Children with Disabilities, 2011

    2011-01-01

    "Spina bifida" is one of the most common birth defects in the United States, affecting some 1,500 babies each year. Spina bifida happens during the first month or so of pregnancy and means that the baby's spine did not close completely. Damage to the nerves and the spinal cord may result. Following a brief story about a child with a…

  2. Surgery on Fetus Reduces Complications of Spina Bifida

    Medline Plus

    Full Text Available ... Scientific Director (OSD) Affinity Groups & Labs (AG&L) Scientists Emeriti National Center for Medical Rehabilitation Research (NCMRR) ... of Spina Bifida Wednesday, March 9, 2011 Recently, scientists in an NIH study reported that a surgical ...

  3. Using a Participatory Action Research Design to Develop an Application Together with Young Adults with Spina Bifida.

    Science.gov (United States)

    Lidström, Helene; Lindskog-Wallander, Magnus; Arnemo, Eva

    2015-01-01

    Young adults with spina bifida often have cognitive difficulties. As a result, young adults with disabilities are facing challenges with respect to housing, education, relationships and vocation which increases risk of unemployment. The aim is to describe a method to develop a smartphone application together with young adults with spina bifida as an assistive technology for cognition. In a Participatory Action Research approach, young adults (n = 5) with spina bifida were individually interviewed with Canadian Occupational Performance Measure (COPM). The participants' restrictions in everyday life activities, identified by COPM, were discussed in a focus group formed by the young adults and the result was analyzed using qualitative content analysis. Developing the application the principles of Human-Centered-Design and Universal Design was followed. An application made for iOS with a focus on usability and worthiness, done by creating a clear and intuitive interface, with a calendar function useful for example to initiate and plan social activities was developed. The method seems useful when the outcome from the project, a beta version of an application for iOS Smartphone, was achieved in agreement with the participants. The study highlight the importance of involving individuals with disabilities when developing smartphone applications.

  4. Perineal Sensation Predictive of Spina Bifida Outcome

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2007-01-01

    Full Text Available Neurologic examination, including perineal sensation, was conducted in a prospective cohort study of 117 consecutive patients with open spina bifida at St George's, University of London, and Addenbrooke's Hospital, Cambridge, UK.

  5. Surgery on Fetus Reduces Complications of Spina Bifida

    Medline Plus

    Full Text Available ... updated. Video: Surgery on Fetus Reduces Complications of Spina Bifida Wednesday, March 9, 2011 Recently, scientists in an ... defect, myelomeningocele, is the most serious form of spina bifida, a condition in which the spinal column fails ...

  6. Preventable spina bifida and anencephaly in Europe.

    Science.gov (United States)

    Obeid, Rima; Pietrzik, Klaus; Oakley, Godfrey P; Kancherla, Vijaya; Holzgreve, Wolfgang; Wieser, Simon

    2015-09-01

    Promotion of voluntary folic acid supplement use among women of reproductive age has been proven to be ineffective in lowering the risk of neural tube defects in Europe. Using surveillance data from all births covered by the full member countries of the European Surveillance of Congenital Anomalies (EUROCAT), we estimated the total prevalence of spina bifida and anencephaly per 10,000 births between 2000 and 2010. We also estimated additional lifetime direct medical costs among individuals with spina bifida, compared with those without, in Germany for the year 2009. During the study period, there were 7478 documented cases of spina bifida and anencephaly among the 9,161,189 births, with an estimated average combined prevalence of 8.16 per 10,000 births (95% confidence interval, 7.98 - 8.35). For the 241 spina bifida-affected live births in 2009 in Germany, the estimated additional lifetime direct medical costs compared with non-spina bifida affected births were €65.5 million. Assuming a 50% reduction in the prevalence if folic acid has been provided to all women before pregnancy, 293 spina bifida cases could have been prevented in Germany in 2009. The estimated lifetime direct medical cost saving for the live births in 2009 was €32.9 million assuming a 50% reduction, or €26.1 million assuming a 40% risk reduction. Europe has an epidemic of spina bifida and anencephaly compared with countries with mandatory folic acid fortification policy. Primary prevention through mandatory folic acid fortification would considerably reduce the number of affected pregnancies, and associated additional costs. © 2015 Wiley Periodicals, Inc.

  7. Spina bifida and other neural tube defects.

    Science.gov (United States)

    Northrup, H; Volcik, K A

    2000-01-01

    NTDs, resulting from failure of the neural tube to close during the fourth week of embryogenesis, are the most common severely disabling birth defects in the United States, with a frequency of approximately 1 of every 2000 births. Neural tube malformations involving the spinal cord and vertebral arches are referred to as spina bifida, with severe types of spina bifida involving protrusion of the spinal cord and/or meninges through a defect in the vertebral arch. Depending on the level of the lesion, interruption of the spinal cord at the site of the spina bifida defect causes paralysis of the legs, incontinence of urine and feces, anesthesia of the skin, and abnormalities of the hips, knees, and feet. Two additional abnormalities often seen in children with spina bifida include hydrocephalus and the Arnold-Chiari type II malformation. Despite the physical and particular learning disabilities children with spina bifida must cope with, participation in individualized educational programs can allow these children to develop skills necessary for autonomy in adulthood. Advances in research to uncover the molecular basis of NTDs is enhanced by knowledge of the link between both the environmental and genetic factors involved in the etiology of NTDs. The most recent development in NTD research for disease-causing genes is the discovery of a genetic link to the most well-known environmental cause of neural tube malformation, folate deficiency in pregnant women. Nearly a decade ago, periconceptional folic acid supplementation was proven to decrease both the recurrence and occurrence of NTDs. The study of folate and its association with NTDs is an ongoing endeavor that has led to numerous studies of different genes involved in the folate metabolism pathway, including the most commonly studied thermolabile mutation (C677T) in the MTHFR gene. An additional focus for NTD research involves mouse models that exhibit both naturally occurring NTDs, as well as those created by

  8. Mortality after bladder augmentation in children with spina bifida.

    Science.gov (United States)

    Szymanski, Konrad M; Misseri, Rosalia; Whittam, Benjamin; Adams, Cyrus M; Kirkegaard, Jordan; King, Shelly; Kaefer, Martin; Rink, Richard C; Cain, Mark P

    2015-02-01

    Renal failure has been a leading cause of death for children with spina bifida. Although improvements in management have increased survival, current data on mortality are sparse. Bladder augmentation, a modern intervention to preserve renal function, carries risks of morbidity and mortality. We determined long-term mortality and causes of death in patients with spina bifida treated with bladder augmentation. We retrospectively reviewed the records of patients with spina bifida who underwent bladder augmentation between 1979 and 2013. Those born before 1972 or older than 21 years at augmentation were excluded. Demographic and surgical data were collected. Outcomes were obtained from medical records, death records and the Social Security Death Index. Fisher exact and Wilcoxon rank-sum tests and Kaplan-Meier plots were used for analysis. Of 888 patients in our bladder reconstruction database 369 with spina bifida met inclusion criteria. Median followup was 10.8 years. A total of 28 deaths (7.6%) occurred. The leading causes of mortality were nonurological infections (ventriculoperitoneal shunt related, decubitus ulcer fasciitis, etc) and pulmonary disease. Two patients (0.5%) died of renal failure. No patient died of malignancy or bladder perforation. Patients with a ventriculoperitoneal shunt had a higher mortality rate than those without a shunt (8.9% vs 1.5%, p = 0.04). Previously reported mortality rates of 50% to 60% in patients with spina bifida do not appear to apply in children who have undergone bladder augmentation. On long-term followup leading causes of death in patients with spina bifida after bladder augmentation were nonurological infections rather than complications associated with augmentation or renal failure. Copyright © 2015 American Urological Association Education and Research, Inc. Published by Elsevier Inc. All rights reserved.

  9. Surgery on Fetus Reduces Complications of Spina Bifida

    Medline Plus

    Full Text Available ... Research Information Find a Study Resources and Publications Spinal Cord Injury (SCI) Condition Information NICHD Research Information Find a ... Information Find a Study More Information Traumatic Brain Injury (TBI) ... myelomeningocele, is the most serious form of spina bifida, a condition in which the spinal column fails to close around the spinal cord. ...

  10. ADHD and Attention Problems in Children With and Without Spina Bifida.

    Science.gov (United States)

    Wasserman, Rachel M; Stoner, Alison M; Stern, Alexa; Holmbeck, Grayson N

    2016-01-01

    Objectives: To identify differences in the diagnosis and treatment of attention deficit/hyperactivity disorder (ADHD) between typically developing children and children with spina bifida. Method: Sixty-eight children with spina bifida and 68 demographically matched, typically developing children participated in a larger, longitudinal study. Rates of maternal, paternal, and teacher reports of attention problems, as well as rates of maternal reports of ADHD diagnosis, diagnosing provider, pharmaceutical treatment, mental health treatment, and academic accommodations were obtained at 5 time points over a period of 8 years and were compared across groups. Results: Children with spina bifida were more likely to have an ADHD diagnosis and attention problems. Attention problems and ADHD diagnoses were first reported at earlier time points for children with spina bifida than typically developing children. Among children with ADHD or attention problems, children with spina bifida were more likely to be treated with medication, but they were just as likely to use mental health services and receive resource services at school. Conclusions: Children with spina bifida were diagnosed with ADHD and identified as having attention problems more frequently and at an earlier age. This finding could be due to earlier symptom development, greater parental awareness, or more contact with providers. Among those with ADHD or attention problems, stimulant medication was more likely to be prescribed to children with spina bifida, despite research that suggests it may not be as beneficial for them. Further research on the effectiveness of ADHD pharmacological treatment for children with spina bifida is recommended.

  11. Emergent care patterns in patients with spina bifida: a case-control study.

    Science.gov (United States)

    Wang, Hsin-Hsiao S; Wiener, John S; Ross, Sherry S; Routh, Jonathan C

    2015-01-01

    Individuals with spina bifida are typically followed closely as outpatients by multidisciplinary teams. However, emergent care of these patients is not well defined. We describe patterns of emergent care in patients with spina bifida and healthy controls. We reviewed Nationwide Emergency Department Sample data from 2006 to 2010. Subjects without spina bifida (controls) were selected from the sample using stratified random sampling and matched to each case by age, gender and treatment year at a 1:4 ratio. Missing emergency department charges were estimated by multiple imputation. Statistical analyses were performed to compare patterns of care among emergency department visits and charges. A total of 226,709 patients with spina bifida and 888,774 controls were identified. Mean age was 28.2 years, with 34.6% of patients being younger than 21. Patients with spina bifida were more likely than controls to have public insurance (63.7% vs 35.4%, p spina bifida seen emergently (OR 8.7, p spina bifida cases vs controls ($2,102 vs $1,650, p spina bifida presenting emergently are more likely to have urological or neurosurgical problems, to undergo urological or neurosurgical procedures, to be admitted from the emergency department and to incur higher associated charges. Copyright © 2015 American Urological Association Education and Research, Inc. Published by Elsevier Inc. All rights reserved.

  12. Aetiology and antenatal diagnosis of spina bifida

    African Journals Online (AJOL)

    Peralta CB, Bunduki V, Plese JP, et al. Association between prenatal sonographic findings and postnatal outcome in 30 cases of spina bifida aperta. Prenat Diagn 2003;23(4):311-314. [http://dx.doi. org/10.1002/pd.584]. 13. Chaoui R, Benoit B, Mitkowska-Wozniak H, et al. Assessment of intracranial translucency (IT) in the.

  13. The Cognitive Phenotype of Spina Bifida Meningomyelocele

    Science.gov (United States)

    Dennis, Maureen; Barnes, Marcia A.

    2010-01-01

    A cognitive phenotype is a product of both assets and deficits that specifies what individuals with spina bifida meningomyelocele (SBM) can and cannot do and why they can or cannot do it. In this article, we review the cognitive phenotype of SBM and describe the processing assets and deficits that cut within and across content domains, sensory…

  14. Cutaneous Markers Of Spina Bifida Occulta

    Directory of Open Access Journals (Sweden)

    Mittal R.R

    1999-01-01

    Full Text Available One four-year female child tuft of hair with underlying soft subcutaneous mass over lumbosacral region since birth. In the midline, there was a dimple with central sinus and peripheral folds of skin. Spina bifida occulta was suspected. Diagnosis was confirmed by x-ray and patient was advised corrective surgery.

  15. Spina Bifida: General Information. Fact Sheet Number 12 = La Espina Bifida: Informacion General. Fact Sheet Number 21.

    Science.gov (United States)

    Interstate Research Associates, McLean, VA.

    This fact sheet on spina bifida is offered in both English and Spanish. It provides definitions of the three types of spina bifida (spina bifida occulta, meningocele, and myelomeningocele). Incidence figures are given as are typical characteristics of children with spina bifida. Educational implications are briefly noted, including the need to…

  16. Longitudinal Study of Bladder Continence in Patients with Spina Bifida in the National Spina Bifida Patient Registry.

    Science.gov (United States)

    Liu, Tiebin; Ouyang, Lijing; Thibadeau, Judy; Wiener, John S; Routh, Jonathan C; Castillo, Heidi; Castillo, Jonathan; Freeman, Kurt A; Sawin, Kathleen J; Smith, Kathryn; Van Speybroeck, Alexander; Valdez, Rodolfo

    2017-11-11

    Achieving bladder continence in individuals with spina bifida is a lifetime management goal. We investigated bladder continence status through time and factors associated with this status in patients with spina bifida. We used National Spina Bifida Patient Registry data collected from 2009 through 2015 and applied generalized estimating equation models to analyze factors associated with bladder continence status. This analysis included 5,250 participants with spina bifida in a large, multi-institutional patient registry who accounted for 12,740 annual clinic visit records during the study period. At last followup mean age was 16.6 years, 22.4% of participants had undergone bladder continence surgery, 92.6% used some form of bladder management and 45.8% reported bladder continence. In a multivariable regression model the likelihood of bladder continence was significantly greater in those who were older, were female, were nonHispanic white, had a nonmyelomeningocele diagnosis, had a lower level of lesion, had a higher mobility level and had private insurance. Continence surgery history and current management were also associated with continence independent of all other factors (adjusted OR and 95% CI 1.9, 1.7-2.1 and 3.8, 3.2-4.6, respectively). The association between bladder management and continence was stronger for those with a myelomeningocele diagnosis (adjusted OR 4.6) than with nonmyelomeningocele (adjusted OR 2.8). In addition to demographic, social and clinical factors, surgical intervention and bladder management are significantly and independently associated with bladder continence status in individuals with spina bifida. The association between bladder management and continence is stronger in those with myelomeningocele. Copyright © 2018 American Urological Association Education and Research, Inc. Published by Elsevier Inc. All rights reserved.

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

    Science.gov (United States)

    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 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 Research, Inc. Published by Elsevier Inc. All rights reserved.

  18. Nationwide Trends and Variations in Urological Surgical Interventions and Renal Outcome in Patients with Spina Bifida.

    Science.gov (United States)

    Wang, Hsin-Hsiao S; Lloyd, Jessica C; Wiener, John S; Routh, Jonathan C

    2016-04-01

    Bladder dysfunction in patients with spina bifida can lead to significant morbidity due to renal insufficiency. Indications for surgery vary among institutions and the impact is unclear. We examined trends and variations in urological interventions and chronic renal insufficiency in patients with spina bifida. We reviewed NIS (Nationwide Inpatient Sample) for all patients with spina bifida treated from 1998 to 2011. We used ICD-9-CM codes to identify urological surgery and chronic renal insufficiency. We calculated the Spearman correlation coefficients between rates of spina bifida related bladder surgeries and rates of chronic renal insufficiency outcomes by state. Linear regression models were fitted to investigate the associations between rates of spina bifida related surgery and chronic renal insufficiency across treatment years. We identified 427,616 spina bifida hospital admissions. Mean patient age was 26 years and 56% of patients were female. Of the admissions 35,249 (8%) were for chronic renal insufficiency and 11,078 (3%) were for surgery. During the study period chronic renal insufficiency rates doubled from 6% to 12% and surgery rates decreased from 2.0% to 1.8%. There was a moderately weak inverse association between surgery and chronic renal insufficiency rates with time (r = -0.3, p = 0.06) and by state (r = -0.3, p = 0.04). On multivariate analysis higher rates of surgery were associated with the state in which the patient was treated (p spina bifida related surgery (p = 0.67). We observed a temporal and geographic trend toward decreasing urological surgery and increasing chronic renal insufficiency rates in spina bifida and a wide variation in urological surgical rates among states. Further study is needed to determine the factors behind these trends and variations in spina bifida management. Copyright © 2016 American Urological Association Education and Research, Inc. Published by Elsevier Inc. All rights reserved.

  19. Complications of surgical management of upper tract calculi in spina bifida patients: analysis of nationwide data.

    Science.gov (United States)

    Wang, Hsin-Hsiao S; Wiener, John S; Ferrandino, Michael N; Lipkin, Michael E; Routh, Jonathan C

    2015-04-01

    The management of upper urinary tract stones in patients with spina bifida is challenging but poorly described in the literature. We compared urolithiasis interventions and related complications in patients with spina bifida to those in other stone formers using a national database. We retrospectively reviewed the NIS to identify hospital admissions for renal and ureteral stones from 1998 to 2011. We used ICD-9-CM codes to identify urological interventions, including shock wave lithotripsy, ureteroscopy, percutaneous nephrolithotomy and ureteral stent placement. NSQIP data were used to identify postoperative complications. We identified 4,287,529 weighted stone hospital admissions, including 12,315 (0.3%) of patients with spina bifida. Compared to those without spina bifida the patients with spina bifida who had urolithiasis were significantly younger (mean age 34 vs 53 years), more likely to have public insurance (72% vs 44%) and renal vs ureteral calculi (81% vs 58%), and undergo percutaneous nephrolithotomy (27% vs 8%). After adjusting for age, insurance, comorbidity, treatment year, surgery type, stone location and hospital factors patients with spina bifida were more likely to have urinary tract infections (OR 2.5), urinary complications (OR 3.1), acute renal failure (OR 1.9), respiratory complications (OR 2.0), pneumonia (OR 1.5), respiratory insufficiency (OR 3.2), prolonged mechanical ventilation (OR 3.2), sepsis (OR 2.7), pulmonary embolism (OR 3.0), cardiac complications (OR 2.4) and bleeding (OR 1.6). Compared to those without spina bifida the patients with spina bifida who were hospitalized for urolithiasis were younger, and more likely to have renal stones and undergo percutaneous nephrolithotomy. Urolithiasis procedures in patients with spina bifida were associated with a significantly higher risk of in-hospital postoperative complications. Copyright © 2015 American Urological Association Education and Research, Inc. Published by Elsevier Inc. All

  20. Men's Health and Spina Bifida

    Science.gov (United States)

    ... percent of people with Spina Bilda (SB) have neurogenic bladder and bowels, and many will have diflculty ... tadalall (Cialis) which regulate blood mow to the penis but still require some form of sexual stimulation ...

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

    Science.gov (United States)

    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…

  2. Optimizing Health Care for Adults with Spina Bifida

    Science.gov (United States)

    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…

  3. Parents' psychosocial adjustment in families of children with Spina Bifida

    NARCIS (Netherlands)

    Vermaes, Ignatius Petrus Renatus

    2007-01-01

    Spina bifida is the most common, congenital, neurological disorder. Children with spina bifida live with a range of impairments depending on the severity and the location of the spinal defect. Medical treatment of the disorder is very complex and can involve decision-making processes around

  4. Symposium on Spina Bifida (Denver, Colorado, November, 1969).

    Science.gov (United States)

    Colorado Univ., Denver. Medical Center.

    The objectives of the symposium were to define the problems of the child with spina bifida and to present practical means of management, using a multi-disciplinary team approach. Eight papers defining the problem cover the epidemiology of spina bifida, pathophysiology, musculoskeletal defects, incontinence of bladder and bowel, problems of…

  5. The International Federation for Spina Bifida and Hydrocephalus

    African Journals Online (AJOL)

    Why primary prevention? In 2005, the members of the International Federation for Spina Bifida and Hydrocephalus (IF) agreed on a resolution that flour fortification with folic acid is the most effective way to reduce the incidence of spina bifida. This easy and cheap method slightly increases the folate status in a population, ...

  6. Reproductive Health Care for Women with Spina Bifida

    Directory of Open Access Journals (Sweden)

    Amie B. Jackson

    2007-01-01

    Full Text Available Women with spina bifida have unique health care concerns and as the life expectancy of this population increases, they are transitioning from adolescence to womanhood and entering their reproductive years with little information about what to expect. Likewise, their health care providers do not have the benefit of evidence-based research that comprehensively addresses the issues these women may face related to reproduction or aging. Few studies have focused on the effects that spina bifida may have on these women's reproductive systems, nor has attention been paid to the effects that possible reproductive endocrine changes may have on their disability. Needless to say, concerns about sexuality, sexual function, and pregnancy are just as important to these women as they are to their able-bodied counterparts.

  7. Prenatal surgery for spina bifida: a therapeutic dilemma. Proceedings of the SHINE conference, Belfast.

    Science.gov (United States)

    Shanmuganathan, Mano; Sival, Deborah A; Eastwood, Kelly-Ann; Morris, Katie; Cartmill, Jacqueline; Heep, Axel; Bohosiewicz, Janusz; Pastuszka, Agnieszka; Hunter, Alyson; Ali, Amanda; McConnell, Roy; Crimmins, Darach; Malone, Fergal; Bailie, Carolyn; Deprest, Jan; McKillop, Cathy; Alfirevic, Zarko; McAuliffe, Fionnuala; Ong, Stephen

    2017-11-03

    This is a transcript of a scientific conference on the subject of prenatal surgery for spina bifida. It represents the views of three patients, an obstetrician, a postnatal neurosurgeon, a neonatologist, a paediatric neurologist, two surgeons who practice open spina bifida foetal surgery, a fetoscopic surgeon and an obstetrician experienced in randomised trials and systematic reviews. Implications for current practice and recommendations for future research are also discussed in detail.

  8. Spina Bifida: Pathogenesis, Mechanisms, and Genes in Mice and Humans

    Science.gov (United States)

    Abou Chaar, Mohamad K.; Ahmad-Annuar, Azlina

    2017-01-01

    Spina bifida is among the phenotypes of the larger condition known as neural tube defects (NTDs). It is the most common central nervous system malformation compatible with life and the second leading cause of birth defects after congenital heart defects. In this review paper, we define spina bifida and discuss the phenotypes seen in humans as described by both surgeons and embryologists in order to compare and ultimately contrast it to the leading animal model, the mouse. Our understanding of spina bifida is currently limited to the observations we make in mouse models, which reflect complete or targeted knockouts of genes, which perturb the whole gene(s) without taking into account the issue of haploinsufficiency, which is most prominent in the human spina bifida condition. We thus conclude that the need to study spina bifida in all its forms, both aperta and occulta, is more indicative of the spina bifida in surviving humans and that the measure of deterioration arising from caudal neural tube defects, more commonly known as spina bifida, must be determined by the level of the lesion both in mouse and in man. PMID:28286691

  9. Identification of novel CELSR1 mutations in spina bifida.

    Science.gov (United States)

    Lei, Yunping; Zhu, Huiping; Yang, Wei; Ross, M Elizabeth; Shaw, Gary M; Finnell, Richard H

    2014-01-01

    Spina bifida is one of the most common neural tube defects (NTDs) with a complex etiology. Variants in planar cell polarity (PCP) genes have been associated with NTDs including spina bifida in both animal models and human cohorts. In this study, we sequenced all exons of CELSR1 in 192 spina bifida patients from a California population to determine the contribution of CELSR1 mutations in the studied population. Novel and rare variants identified in these patients were subsequently genotyped in 190 ethnically matched control individuals. Six missense mutations not found in controls were predicted to be deleterious by both SIFT and PolyPhen. Two TG dinucleotide repeat variants were individually detected in 2 spina bifida patients but not detected in controls. In vitro functional analysis showed that the two TG dinucleotide repeat variants not only changed subcellular localization of the CELSR1 protein, but also impaired the physical association between CELSR1 and VANGL2, and thus diminished the ability to recruit VANGL2 for cell-cell contact. In total, 3% of our spina bifida patients carry deleterious or predicted to be deleterious CELSR1 mutations. Our findings suggest that CELSR1 mutations contribute to the risk of spina bifida in a cohort of spina bifida patients from California.

  10. Diagnosis of spina bifida on ultrasound: always termination?

    Science.gov (United States)

    Trudell, Amanda S; Odibo, Anthony O

    2014-04-01

    Open spina bifida is a non-lethal fetal anomaly. Significant advances in the prevention, diagnosis and treatment of open spina bifida have been made over the past 75 years. The most significant strategy for the prevention of open spina bifida has been with folic acid supplementation; however, further investigation into the complicated role that genetics and the environment play in metabolism are coming to light. Ultrasound is the gold standard diagnostic tool for spina bifida. Three-dimensional ultrasound and magnetic resonance imaging are also beginning to play a role in the characterisation of the open spina bifida spinal lesion. Lesion level has been closely correlated to short and long-term outcomes, and prenatal characterisation of lesion level on ultrasound is important for patient counselling. Long-term outcomes of people living with spina bifida are available and should be used for non-directive patient counselling about pregnancy choices for women with open spina bifida. Copyright © 2013 Elsevier Ltd. All rights reserved.

  11. Spina Bifida: Pathogenesis, Mechanisms, and Genes in Mice and Humans

    Directory of Open Access Journals (Sweden)

    Siti W. Mohd-Zin

    2017-01-01

    Full Text Available Spina bifida is among the phenotypes of the larger condition known as neural tube defects (NTDs. It is the most common central nervous system malformation compatible with life and the second leading cause of birth defects after congenital heart defects. In this review paper, we define spina bifida and discuss the phenotypes seen in humans as described by both surgeons and embryologists in order to compare and ultimately contrast it to the leading animal model, the mouse. Our understanding of spina bifida is currently limited to the observations we make in mouse models, which reflect complete or targeted knockouts of genes, which perturb the whole gene(s without taking into account the issue of haploinsufficiency, which is most prominent in the human spina bifida condition. We thus conclude that the need to study spina bifida in all its forms, both aperta and occulta, is more indicative of the spina bifida in surviving humans and that the measure of deterioration arising from caudal neural tube defects, more commonly known as spina bifida, must be determined by the level of the lesion both in mouse and in man.

  12. Spina Bifida: Pathogenesis, Mechanisms, and Genes in Mice and Humans.

    Science.gov (United States)

    Mohd-Zin, Siti W; Marwan, Ahmed I; Abou Chaar, Mohamad K; Ahmad-Annuar, Azlina; Abdul-Aziz, Noraishah M

    2017-01-01

    Spina bifida is among the phenotypes of the larger condition known as neural tube defects (NTDs). It is the most common central nervous system malformation compatible with life and the second leading cause of birth defects after congenital heart defects. In this review paper, we define spina bifida and discuss the phenotypes seen in humans as described by both surgeons and embryologists in order to compare and ultimately contrast it to the leading animal model, the mouse. Our understanding of spina bifida is currently limited to the observations we make in mouse models, which reflect complete or targeted knockouts of genes, which perturb the whole gene(s) without taking into account the issue of haploinsufficiency, which is most prominent in the human spina bifida condition. We thus conclude that the need to study spina bifida in all its forms, both aperta and occulta, is more indicative of the spina bifida in surviving humans and that the measure of deterioration arising from caudal neural tube defects, more commonly known as spina bifida, must be determined by the level of the lesion both in mouse and in man.

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

    Science.gov (United States)

    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.

  14. Handicap and social status of adults with spina bifida cystica

    Science.gov (United States)

    Evans, Kathleen; Hickman, Veronica; Carter, C. O.

    1974-01-01

    The present physical handicaps and social status of 202 survivors of spina bifida cystica attending The Hospital for Sick Children, Great Ormond Street before 1954 are described. Ninety-three of the patients, mostly with uncomplicated meningocele, had escaped serious disability and were living normal lives. But 109 had a serious disability, including three who are mentally retarded. Some of the difficulties of living with spina bifida are described, and a record of work, marriage, and reproduction in the whole group of survivors is shown. Of the 106 with serious locomotor problems and/or incontinence, 58 work regularly, 17 have long spells off work, and 31 have never worked at all; 24 have married, 16 have 26 children none of whom has spina bifida. Of the 96 without physical handicap, 93 work regularly, 47 are married, and 34 have 75 children one of whom has spina bifida cystica and one anencephaly. PMID:4604518

  15. Surgery on Fetus Reduces Complications of Spina Bifida

    Medline Plus

    Full Text Available ... Videos Get to Know NICHD Podcasts and Audio Social Media NICHD in the News Join NICHD Listservs About ... Reduces Complications of Spina Bifida Skip sharing on social media links Share this: NICHD Archive Note: Information on ...

  16. Movement analysis in neonates with spina bifida aperta

    NARCIS (Netherlands)

    Sival, D A; Brouwer, O F; Bruggink, J L M; Vles, J S H; Staal-Schreinemachers, A L; Sollie, K M; Sauer, P J J; Bos, A F

    INTRODUCTION: In neonates with spina bifida aperta (SBA), leg movements by myotomes caudal to the meningomyelocele (MMC) are transiently observed. It is unclear whether these leg movements relate to functional neural conduction through the MMC. For optimal therapeutical intervention,

  17. Surgery on Fetus Reduces Complications of Spina Bifida

    Medline Plus

    Full Text Available ... NICHD in the News Join NICHD Listservs Video: Surgery on Fetus Reduces Complications of Spina Bifida Skip ... the NICHD, describes the study’s findings. Read the Management of Myelomeningocele Study (MOMS) Interview text alternative . The ...

  18. Surgery on Fetus Reduces Complications of Spina Bifida

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    Full Text Available ... Videos Get to Know NICHD Podcasts and Audio Social Media NICHD in the News Join NICHD Listservs ... Reduces Complications of Spina Bifida Skip sharing on social media links Share this: NICHD Archive Note: Information ...

  19. Surgery on Fetus Reduces Complications of Spina Bifida

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  20. Surgery on Fetus Reduces Complications of Spina Bifida

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  1. Surgery on Fetus Reduces Complications of Spina Bifida

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    Full Text Available ... publication. This page is no longer being updated. Video: Surgery on Fetus Reduces Complications of Spina Bifida ... opening in the spine. In a new Web video, study author Catherine Y. Spong, M.D., Chief ...

  2. Surgery on Fetus Reduces Complications of Spina Bifida

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  3. Surgery on Fetus Reduces Complications of Spina Bifida

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  4. Surgery on Fetus Reduces Complications of Spina Bifida

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    Full Text Available ... This page is no longer being updated. Video: Surgery on Fetus Reduces Complications of Spina Bifida Wednesday, ... the NICHD, describes the study’s findings. Read the Management of Myelomeningocele Study (MOMS) Interview text alternative . The ...

  5. Sexual Health in Adult Men with Spina Bifida

    Directory of Open Access Journals (Sweden)

    Gary W. Bong

    2007-01-01

    Full Text Available Medical and surgical advances in the treatment of spina bifida (SB have resulted in increasing numbers of patients reaching adulthood. As such, issues related to sexual maturity are being investigated to offer optimal healthcare to men with spina bifida. This report constitutes a review of the current literature relating to adults with spina bifida and issues of sexuality, erectile dysfunction and fertility. In general, adult males with spina bifida have normal sexual desires and an interest in addressing these issues with healthcare providers. Sexual education and access to intimacy are delayed compared to the general population. 75% of men achieve erections, but maintaining erections is a problem and some may be merely reflexive in nature. The many of these men show marked improvement with sildenafil. In SB erectile dysfunction and infertility are related to the level of neurological lesion with the best performance status in those with sacral lesions and intact reflexes. Men with lesions higher than T10 are at risk for azoospermia. There is an increased risk of neural tube defects in the children of men with spina bifida, but the current incidence with modern folic acid therapy is unknown. As the number of males with spina bifida reaching sexual maturity increases, further investigation into sexuality, sex education, intimacy, and treatments for erectile dysfunction and infertility will be needed.

  6. Trends in Spina Bifida and Anencephalus in the United States, 1991-2006

    Science.gov (United States)

    ... the National Technical Information Service NCHS Trends in Spina Bifida and Anencephalus in the United States, 1991-2006 ... consumption of the vitamin folic acid to reduce spina bifida and anencephalus. In 1996, the U.S. Food and ...

  7. Virtual socialization in adults with spina bifida.

    Science.gov (United States)

    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

  8. Spina Bifida Association of America

    Science.gov (United States)

    ... SB Research Center Resource Directory SB Insights SB University Scholarships Get Involved Events 4b4the4th 100 Ways for SB ... SB Research Center Resource Directory SB Insights SB University Scholarships Get Involved Events 4b4the4th 100 Ways for SB ...

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

    NARCIS (Netherlands)

    Cuppen, I.; Geerdink, N.; Rotteveel, J.J.; Mullaart, R.A.; Roeleveld, N.; Pasman, J.W.

    2013-01-01

    MEPs and CMAPs as prognostic tools for spina bifida. AIM: 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. METHODS: Thirty-six neonates born with spina bifida

  10. Health risk behaviors among young adults with spina bifida

    Science.gov (United States)

    Soe, Minn M; Swanson, Mark E; Bolen, Julie C; Thibadeau, Judy K; Johnson, Natalie

    2015-01-01

    AIM Persons with spina bifida who adopt unhealthy lifestyles could be at increased risk of adverse health outcomes because the presence of spina bifida may magnify this risk. We estimated overall and age-specific prevalence of selected health risk behaviors (HRBs) in young people with spina bifida and examined the association between HRBs and depression. METHOD We performed analyses on data obtained from individuals with spina bifida (n=130; mean age 23y SD 4y 5mo; 64 males, 66 females; 64% lumbosacral lesion; 77% with shunt) who participated in a population-based survey conducted by the Arkansas Spinal Cord Commission in 2005. RESULTS Compared with national estimates, young people with spina bifida tend to eat less healthy diets, do less exercise, and engage inmore sedentary activities. Respondents were less likely to use substances (alcohol, tobacco, illegal drugs), which peaked among 25 to 31 year olds. About 90% saw a doctor in the previous year. Nearly one half reported mild or major depressive symptoms. In the logistic regression analysis after controlling for potential confounders (age, sex, ethnic group, education, employment, marital status, living arrangement, level of lesion, presence of shunt, mobility, self-rated health and healthcare utilization), major depressive symptoms were associated with current alcohol drinking (adjusted odds ratio: 4.74; 95% CI 1.18–19.04). INTERPRETATION Young adults with spina bifida exhibit unhealthy behaviors that continue into their late 20s. The findings highlight the need to increase awareness of their health risk profiles in the spina bifida community and show opportunities for mental health and health risk screening and counseling by healthcare providers. PMID:22937873

  11. Bowel Dysfunction Related to Spina Bifida: Keep It Simple.

    Science.gov (United States)

    Brochard, Charlène; Peyronnet, Benoît; Dariel, Anne; Ménard, Hélène; Manunta, Andréa; Ropert, Alain; Neunlist, Michel; Bouguen, Guillaume; Siproudhis, Laurent

    2017-11-01

    Although care of urological disorders in spina bifida is well established, there is yet no agreement on a standardized approach to bowel dysfunction in this population. The purpose of this study was to assess bowel dysfunction using validated instruments and the risk factors in adults with spina bifida. A multidisciplinary team prospectively collected patient data, focusing on anorectal and urological symptoms. The study was conducted with data from a French referral center for spina bifida. A total of 228 adults with spina bifida (sex ratio men:women, 92 (40%):136 (60%)) with a median age of 34.7 years (range, 26.8-44.7 y) were assessed. Factors associated with severe fecal incontinence (Cleveland Clinic Incontinence Score ≥9) and severe bowel dysfunction (Neurogenic Bowel Dysfunction score ≥14) were assessed in a multivariate analysis model. The prevalence rates of severe fecal incontinence and severe bowel dysfunction were 60% (130/217) and 42% (71/168). Bowel dysfunction was the second most common major concern of patients after lower urinary tract dysfunction. Male sex, obesity, urinary incontinence, and a Knowles-Eccersley-Scott symptom constipation score ≥10 were independently associated with severe fecal incontinence. Patients with soft stools had significantly less severe bowel dysfunction. Neither neurologic level nor other neurologic features of spina bifida were associated with severe fecal incontinence or severe bowel dysfunction. The recruitment of patients with spina bifida through a national referral center might have resulted in selection bias, and some data were missing especially regarding BMI and Neurogenic Bowel Dysfunction score (21% and 26% of missing data). The prevalence rates of severe fecal incontinence and severe bowel dysfunction in adults with spina bifida were high and were adequately perceived by the patients. The present study emphasized the association of bowel dysfunction and fecal incontinence with obesity, urologic

  12. Variation in bowel and bladder continence across US spina bifida programs: A descriptive study.

    Science.gov (United States)

    Freeman, Kurt A; Castillo, Heidi; Castillo, Jonathan; Liu, Tiebin; Schechter, Michael; Wiener, John S; Thibadeau, Judy; Ward, Elisabeth; Brei, Timothy

    2017-12-11

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

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

    Science.gov (United States)

    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…

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

    Science.gov (United States)

    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…

  15. 77 FR 35317 - Gruma Corporation, Spina Bifida Association, March of Dimes Foundation, American Academy of...

    Science.gov (United States)

    2012-06-13

    ... HUMAN SERVICES Food and Drug Administration 21 CFR Part 172 Gruma Corporation, Spina Bifida Association... a food additive petition (FAP 2A4796) has been jointly filed by Gruma Corporation, Spina Bifida... petition. SUMMARY: The Food and Drug Administration (FDA) is announcing that Gruma Corporation, Spina...

  16. Treatment of the neurogenic bladder in spina bifida

    NARCIS (Netherlands)

    de Jong, Tom P. V. M.; Chrzan, Rafal; Klijn, Aart J.; Dik, Pieter

    2008-01-01

    Renal damage and renal failure are among the most severe complications of spina bifida. Over the past decades, a comprehensive treatment strategy has been applied that results in minimal renal scaring. In addition, the majority of patients can be dry for urine by the time they go to primary school.

  17. Spina bifida: A multidisciplinary perspective on a many-faceted ...

    African Journals Online (AJOL)

    Open spina bifida or myelomeningocele (SBM) is the most common birth defect involving the central nervous system, second only in incidence to congenital cardiac ... live births in SA, with higher incidences reported in rural areas.[3] The lower sacral ... mechanism by which folate supplementation reduces the incidence of ...

  18. Sexual and reproductive health in young people with spina bifida.

    Science.gov (United States)

    Sawyer, S M; Roberts, K V

    1999-10-01

    This study aimed to identify the sexual and reproductive health knowledge, attitudes, and behaviour of young people, aged between 14 and 23 years, with spina bifida who had attended the Spina Bifida Clinic at a tertiary centre in Melbourne, Australia within the past 10 years. Subjects participated in a structured interview and their parents completed a written questionnaire. Fifty-one (55%) of 93 eligible young people and 69 of 97 parents (71%) participated. Most young people were satisfied with the amount of general sex education they had received. However, 95% stated they had inadequate knowledge about sexual and reproductive health relating to spina bifida and 59% of parents considered they had inadequate knowledge. Thirty-nine percent of young people and 30% of parents had discussed sexuality issues with a doctor. However, 93% of young people and 100% of parents said that they would definitely talk about these issues if the discussions were initiated by their doctor. A significant degree of sexual intimacy was reported, with 60% reporting an intimate relationship, and 25% (10 females, three males) reporting sexual intercourse. Thirty-seven percent of females had experienced unwanted sexual attention, and 30% reported unwanted sexual touching. This study suggests that health professionals should pay greater attention to sexual and reproductive health issues in young people with spina bifida.

  19. Surgery on Fetus Reduces Complications of Spina Bifida

    Medline Plus

    Full Text Available ... Friend's Email: Submit Cancel Close Email Share Dialog × Print NICHD Archive Note: Information on this page was accurate at the time of publication. This page is no longer being updated. Video: Surgery on Fetus Reduces Complications of Spina Bifida Wednesday, March 9, 2011 ...

  20. Reaching for Independence: Counseling Implications for Youth with Spina Bifida

    Science.gov (United States)

    Brislin, Dawn C.

    2008-01-01

    Spina bifida, a congenital physical disability, is indirectly associated with difficulties in scholastic achievement, social development, and self-determination. Environment can have an impact on psychosocial development and impede functioning academically, socially, and vocationally. Counselors must be aware of the societal atmosphere to identify…

  1. Life satisfaction of young adults with spina bifida

    NARCIS (Netherlands)

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

    This study concerns life satisfaction and its determinants in Dutch young adults with spina bifida (SB). Data on life satisfaction (Life Satisfaction Questionnaire [LiSat-9]) were related to hydrocephalus, lesion level, disabilities, and demographic variables. In total, 179 young adults with SB

  2. The spectrum of urological disease in patients with spina bifida.

    LENUS (Irish Health Repository)

    Cahill, R A

    2012-02-03

    BACKGROUND: [corrected] Urological complications are the major cause of ill health during childhood and adult life of patients with spina bifida but the significance of urinary tract disease on the individual and the healthcare services is underemphasised. AIM: To assess the effects of spina bifida on the individual and the healthcare services. METHODS: A retrospective review was performed to assess the frequency and significance of urological conditions requiring hospital attendance in patients with spina bifida currently attending a specialised multidisciplinary clinic over a period of six months. RESULTS: Urinary sepsis accounted for the majority of admissions (62%), while 38 of 62 patients required 60 surgical procedures. Targeting the primary urological abnormality (the dysfunctional and usually poorly compliant bladder) allows implementation of effective treatments, including regular intermittent bladder catherisation (52%) in order to preserve upper renal tract function. Associated postural abnormalities complicated both conservative and interventional therapies. CONCLUSION: This study highlights the surgical commitment for units caring for patients with spina bifida, the important considerations for the future healthcare services, and the range and severity of urological diseases encountered by these patients.

  3. Compound muscle action potentials in newborn infants with spina bifida.

    NARCIS (Netherlands)

    Geerdink, N.; Pasman, J.W.; Rotteveel, J.J.; Roeleveld, N.; Mullaart, R.A.

    2008-01-01

    The aim of this study was to investigate the relationship between compound muscle action potentials (CMAPs) and neurological impairment in newborn infants with spina bifida. Thirty-one newborn infants (17 males, 14 females, mean gestational age 39 wks [SD 2]; mean birthweight 3336 g [SD 496]) with

  4. Responses to lumbar magnetic stimulation in newborns with spina bifida.

    NARCIS (Netherlands)

    Geerdink, N.; Pasman, J.W.; Roeleveld, N.; Rotteveel, J.J.; Mullaart, R.A.

    2006-01-01

    Searching for a tool to quantify motor impairment in spina bifida, transcranial and lumbar magnetic stimulation were applied in affected newborn infants. Lumbar magnetic stimulation resulted in motor evoked potentials in both the quadriceps muscle and the tibialis anterior muscle in most (11/13)

  5. Neonatal loss of motor function in human spina bifida aperta

    NARCIS (Netherlands)

    Sival, Deborah A; van Weerden, Tiemen W; Vles, Johan S H; Timmer, Albertus; den Dunnen, Wilfred F A; Staal-Schreinemachers, A L; Hoving, Eelco W.; Sollie, Krystyne M; Kranen-Mastenbroek, Vivianne J M; Sauer, Pieter J J; Brouwer, Oebele F

    OBJECTIVE: In neonates with spina bifida aperta (SBA), leg movements innervated by spinal segments located caudal to the meningomyelocele are transiently present. This study in neonates with SBA aimed to determine whether the presence of leg movements indicates functional integrity of neuronal

  6. Dermatoglyphics of mothers of Malawian children with spina bifida ...

    African Journals Online (AJOL)

    Dermatoglyphic traits are formed under genetic control early in development and do not change thereafter, thus maintaining stability not affected by age. Methodology: We determined the dermatoglyphic traits of mothers of children with spina bifida cystica and compared then with controls matched for number, age and parity ...

  7. Parasitic twin within spina bifida | Ringo | African Journal of ...

    African Journals Online (AJOL)

    Spinal dysraphisms in association with accessory limbs are extremely rare congenital anomalies. The potential mechanisms of development and classification of these anomalies remain unclear. We report a unique case of a baby boy with an accessory foot and external genitalia in association with spina bifida. Key words: ...

  8. Prevention of spina bifida: Folic acid intake during pregnancy in ...

    African Journals Online (AJOL)

    Introduction: The intake of folic acid before conception and during the first trimester of pregnancy can prevent spina bifida. This paper describes folic acid intake in women in Gulu district in northern Uganda. Methods: Structured interviews were held with 394 women attending antenatal care (ANC), 15 mothers of children ...

  9. Reproducibility of Muscle Strength Testing for Children with Spina Bifida.

    Science.gov (United States)

    Tan, Jia Ling; Thomas, Nicole Maree; Johnston, Leanne Marie

    2017-11-01

    Examine the inter-rater reliability of the Daniels and Worthingham (D&W) manual muscle test (MMT) protocol for children with spina bifida between experienced and novice physiotherapists. Thirteen children with spina bifida (two males) aged 6 to 18 years were recruited from a spina bifida service in a state-wide tertiary children's hospital. Each child had the muscle strength of 19, and lower limb muscles were measured bilaterally by one experienced and one novice physiotherapist using the D&W MMT protocol. Examiner and limb order were counterbalanced. Standard training and recording sheets were used. Agreement between raters was examined with quadratic weighted kappa (κ w2 ), percentage exact agreement (%EA), and the Bland-Altmann Limits of Agreement (LoA). Minimal detectable change (MDC) was calculated. Inter-rater agreement between the experienced and novice raters was excellent (κ w2 = 0.95; 95% confidence interval: 0.94-0.96); %EA was good (72.3%); and clinically appropriate LoA levels were -1.30-1.40. The MDC was 1.11 points on a six-point MMT scale. The D&W MMT protocol, when used after standard training and with standard recording sheets, was reproducible for children with spina bifida, aged 6-18 years.

  10. Prenatal diagnosis of open spina bifida in Emilia-Romagna.

    Science.gov (United States)

    Ghi, Tullio; Cocchi, Guido; Conti, Letizia; Pacella, Giuseppina; Youssef, Aly; Rizzo, Nicola; Pilu, Gianluigi

    2015-01-01

    To report recent data on the epidemiology of pregnancies affected by open spina bifida in the Emilia-Romagna region of Italy. All cases of open spina bifida diagnosed in the Emilia-Romagna region between 2001 and 2011 and reported to the IMER regional registry were included in the study group. The pregnancy outcome was retrospectively assessed. In the study period out of 390,978 babies born in Emilia-Romagna 126 cases of open spina bifida were reported to the IMER registry, resulting in a global prevalence of 3.2 per 10,000 births. Prenatal diagnosis was achieved in the vast majority of these cases (105/126; 83.3%) and in a great proportion of those women (85/105; 80.9%) who opted for termination of pregnancy. In a wide region of northern Italy where ultrasound anomaly scan is routinely offered to the general population, the vast majority of cases of open spina bifida are diagnosed antenatally and terminated electively. © 2015 S. Karger AG, Basel.

  11. Selective and sustained attention in children with spina bifida myelomeningocele

    DEFF Research Database (Denmark)

    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...

  12. Learning Among Children with Spina Bifida

    Science.gov (United States)

    ... 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 skills, attention, memory ...

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

    Science.gov (United States)

    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…

  14. Hemimetameric shift in spina bifida: three case reports.

    Science.gov (United States)

    Canaz, Huseyin; Canaz, Gokhan; Ucar, Bekir Yavuz; Alatas, Ibrahim

    2017-03-01

    Hemivertebrae is the most frequent reason of congenital scoliosis, and hemimetameric shift is a finding, which is characterized by two hemivertebraes located contralateral, with at least one normal vertebra between them. Embryologically, hemivertebrae is caused by delay in somite movements and as a result, a total vertebral shift occurs because of mismatches in the following segments. Hemimetameric shift accompanying spina bifida is described as extremely rare. There are only two case series of hemimetameric shift in literature but no spina bifida patient was reported in these series. We report three cases of hemimetameric shift with spina bifida with their detailed clinical and radiological evaluations. Case 1 is a 3-year-old congenital scoliosis patient with tethered cord. She has mild scoliosis with a very demonstrative hemimetameric shift. Case 3 is an infant with multiple-level hemivertebrae anomalies and hemimetameric shift who had myelomeningocele closure and ventriculoperitoneal shunt installation neonatally. Case 3 is a 9-year-old male who had operated for myelomeningocele in the neonatal period. He had evident scoliosis with cervicothoracic hemimetameric shift and he is the only patient we operated for prominent scoliosis. The present classification of hemimetameric shift was described by Kawakami et al. in 2009. It is based on development of anterior and posterior hemivertebrae segments but we think it is not suitable for patients with posterior fusion defects such as spina bifida patients. Spina bifida patients with scoliosis and hemimetameric shift are a rare but important patient group to evaluate in terms of understanding scoliosis patients with neural tube defects.

  15. Spina bifida occulta: not to be overlooked in children with nocturnal enuresis.

    Science.gov (United States)

    Shin, Sang Hee; Im, Young Jae; Lee, Mi-Jung; Lee, Yong Seung; Choi, Eun Kyoung; Han, Sang Won

    2013-08-01

    Previous reports have suggested that the incidence of spina bifida occulta in patients with nocturnal enuresis is higher than in the general population. However, the effect of spina bifida occulta on the response to nocturnal enuresis treatment is controversial. The purpose of this study was to investigate the relationship between spina bifida occulta and response to treatment of nocturnal enuresis. Between 2006 and 2009, the records of 160 children with nocturnal enuresis were reviewed. Children with other organic urological disease or symptoms suggestive of spinal dysraphism were excluded. Plain radiography for the kidney-ureter-bladder was carried out before the start of the nocturnal enuresis treatment. Response to treatment of children with and without spina bifida occulta was compared. Of 160 children, 53 were girls; the mean age was 7.8 ± 2.06 years. The mean duration of treatment was 8.7 ± 9.29 months. Spina bifida occulta was detected in 43 children (26.9%). Spina bifida occulta affected L4 in four children, L5 in 12 children, S1 in 26 children and S2 in one child. There was a significant difference between the spina bifida occulta and non-spina bifida occulta groups in terms of outcome (P=0.002), with a complete response more likely in children without spina bifida occulta (P=0.005). None of the children with primary non-mono symptomatic nocturnal enuresis and spina bifida occulta showed a complete response. The presence of spina bifida occulta significantly affects the response to treatment in patients with nocturnal enuresis. Thus, verifying spina bifida occulta in this patient population can facilitate the prediction of the response to nocturnal enuresis treatment. © 2013 The Japanese Urological Association.

  16. Ambulatory Care Use among Patients with Spina Bifida: Change in Care from Childhood to Adulthood.

    Science.gov (United States)

    Shepard, Courtney L; Doerge, Ella J; Eickmeyer, Adam B; Kraft, Kate H; Wan, Julian; Stoffel, John T

    2017-11-04

    We examined the ambulatory health care visit use of children with spina bifida, adults who transitioned to adult care and adults who continued to seek care in a pediatric setting. We evaluated use during a 1-year period of patients with spina bifida who visited any outpatient medical clinic within an integrated health care system. Patients were categorized as pediatric (younger than 18 years) or adult (age 18 or older). Adults were divided into those who did not fully transition to adult care and patients who fully transitioned (adult). Frequency and type of health care use were compared. Subanalysis was performed for patients 18 to 25 years old to examine variables associated with successful complete transition to adult care. During 1 year 382 children, 88 patients who did not transition and 293 adult patients with spina bifida had 4,931 clinic visits. Children had greater ambulatory care use (7.25 visits per year) compared to fully transitioned adults (5.33 visits per year, p=0.046). Children more commonly visited surgical clinics (52.3% of visits) and adults more commonly visited medical clinics (48.9%) (p spina bifida used more ambulatory care than adults and were more likely to visit a surgical specialist. Adult patients with spina bifida who successfully transitioned to adult care were more likely to be female, and patients who failed to transition were more likely to receive more inpatient and emergency care. Copyright © 2018 American Urological Association Education and Research, Inc. Published by Elsevier Inc. All rights reserved.

  17. Isolated and ventriculomegaly-associated cases of spina bifida in genetic counseling: focus on fetal pathology.

    Science.gov (United States)

    Joó, József Gábor; Csaba, Ákos; Szigeti, Zsanett; Rigó, János

    2013-07-01

    Cases of spina bifida alone and in association with ventriculomegaly represent important but different malformations according to clinical characteristics. In our study, we analyzed the data on pregancies terminated because of isolated cases (n=307) and ventriculomegaly-associated cases (n=372) of spina bifida. In spina bifida cases in association with hydrocephalus, positive obstetric history was found approximately 1.5 times more frequently than in the isolated ones. The incidence of positive genetic history was nearly two-fold in the latter cases. In isolated cases of spina bifida, associated malformations were more common than in cases of spina bifida and ventriculomegaly together. The most frequent associated malformations were those of the urogenital system (in cases of spina bifida: 11.1%; in cases of SB+V: 9.14%). The risk of recurrence of SB+V is significantly higher than that of isolated SB (8.9% vs. 2.1%). It can be concluded that positive genetic history is more common in cases of isolated spina bifida. Malformations out of the nervous system are more commonly observed in cases of isolated spina bifida. During the prenatal diagnostics of spina bifida, sonography must focus on malformations of the urogenital system. Copyright © 2013 Elsevier GmbH. All rights reserved.

  18. Diffusion tensor magnetic resonance imaging and fiber tractography of the sacral plexus in children with spina bifida.

    Science.gov (United States)

    Haakma, Wieke; Dik, Pieter; ten Haken, Bennie; Froeling, Martijn; Nievelstein, Rutger A J; Cuppen, Inge; de Jong, Tom P V M; Leemans, Alexander

    2014-09-01

    It is still largely unknown how neural tube defects in spina bifida affect the nerves at the level of the sacral plexus. Visualizing the sacral plexus in 3 dimensions could improve our anatomical understanding of neurological problems in patients with spina bifida. We investigated anatomical and microstructural properties of the sacral plexus of patients with spina bifida using diffusion tensor imaging and fiber tractography. Ten patients 8 to 16 years old with spina bifida underwent diffusion tensor imaging on a 3 Tesla magnetic resonance imaging system. Anatomical 3-dimensional reconstructions were obtained of the sacral plexus of the 10 patients. Fiber tractography was performed with a diffusion magnetic resonance imaging toolbox to determine fractional anisotropy, and mean, axial and radial diffusivity in the sacral plexus of the patients. Results were compared to 10 healthy controls. Nerves of patients with spina bifida showed asymmetry and disorganization to a large extent compared to those of healthy controls. Especially at the myelomeningocele level it was difficult to find a connection with the cauda equina. Mean, axial and radial diffusivity values at S1-S3 were significantly lower in patients. To our knowledge this 3 Tesla magnetic resonance imaging study showed for the first time sacral plexus asymmetry and disorganization in 10 patients with spina bifida using diffusion tensor imaging and fiber tractography. The observed difference in diffusion values indicates that these methods may be used to identify nerve abnormalities. We expect that this technique could provide a valuable contribution to better analysis and understanding of the problems of patients with spina bifida in the future. Copyright © 2014 American Urological Association Education and Research, Inc. Published by Elsevier Inc. All rights reserved.

  19. Trans-amniotic stem cell therapy (TRASCET) minimizes Chiari-II malformation in experimental spina bifida.

    Science.gov (United States)

    Dionigi, Beatrice; Brazzo, Joseph A; Ahmed, Azra; Feng, Christina; Wu, Yaotang; Zurakowski, David; Fauza, Dario O

    2015-06-01

    We sought to study the impact of trans-amniotic stem cell therapy (TRASCET) in the Chiari-II malformation in experimental spina bifida. Sprague-Dawley fetuses (n=62) exposed to retinoic acid were divided into three groups at term (21-22 days gestation): untreated isolated spina bifida (n=21), isolated spina bifida treated with intra-amniotic injection of concentrated, syngeneic, labeled amniotic fluid mesenchymal stem cells (afMSCs) on gestational day 17 (n=28), and normal controls (n=13). Analyses included measurements of brainstem and cerebellar placement on high resolution MRI and histology. Statistical comparisons included ANOVA. In parallel to the expected induced coverage of the spina bifida in the afMSC-treated group (Pspina bifida by TRASCET minimizes the Chiari-II malformation in the retinoic acid rodent model, further suggesting it as a practical alternative for the prenatal management of spina bifida. Copyright © 2015 Elsevier Inc. All rights reserved.

  20. Risk factors for the occurrence of spina bifida (a case-control study) and the prevalence rate of spina bifida in Japan.

    Science.gov (United States)

    Kondo, Atsuo; Morota, Nobuhito; Ihara, Satoshi; Saisu, Takeshi; Inoue, Katsumi; Shimokawa, Shoko; Fujimaki, Hiroya; Matsuo, Keisuke; Shimosuka, Yoichi; Watanabe, Tomoyuki

    2013-09-01

    The Japanese government recommended in 2000 that women planning pregnancy should take 400 μg of folic acid daily to decrease the risk of having an infant with spina bifida. We aimed to identify risk factors for the occurrence of spina bifida and to evaluate how the prevalence rate has altered over the past 3 decades. Subjects comprised 360 women who gave birth to spina bifida-affected offspring and 2333 women who gave birth to offspring without spina bifida between 2001 and 2012. A self-administered questionnaire was used to collect data, which were analyzed by multiple logistic regression models. The prevalence rate of spina bifida was obtained through data provided by international and domestic organizations. Four variables were significantly associated with the increased risk of having newborns afflicted with spina bifida: not taking folic acid supplements (odds ratios [OR], 2.50; 95% confidence interval [CI], 1.72-3.64), presence of spina bifida patients within third-degree relatives (OR, 4.26; 95% CI, 1.12-16.19), taking anti-epileptic drugs without folic acid (OR, 20·20; 95% CI, 2.06-198.17), and low birth weight in the newborns ≤ 2500 g (OR, 4.21; 95% CI, 3.18-5.59). The prevalence rate of spina bifida has remained 5 to 6 per 10,000 total births and has not shown any decreasing trend over the past 11 years. Four risk factors were identified among Japanese women. Because recommendations and information have not decreased the occurrence of spina bifida, the Japanese government should implement mandatory food fortification. Copyright © 2013 Wiley Periodicals, Inc.

  1. Are myo-inositol, glucose and zinc concentrations in amniotic fluid of fetuses with spina bifida different from controls?

    NARCIS (Netherlands)

    Groenen, P.; Wevers, R.A.; Janssen, F.; Tuerlings, J.H.A.M.; Merkus, J.M.W.M.; Steegers-Theunissen, R.P.M.

    2003-01-01

    OBJECTIVE: Associations are reported between myo-inositol, glucose, zinc and the occurrence of spina bifida. To gain more insight into the pathogenesis of spina bifida, the concentrations of myo-inositol, glucose and zinc were determined in amniotic fluids from pregnancies with a spina bifida or

  2. 38 CFR 21.8012 - Vocational training program for certain children of Vietnam veterans-spina bifida and covered...

    Science.gov (United States)

    2010-07-01

    ... program for certain children of Vietnam veterans-spina bifida and covered birth defects. 21.8012 Section...-Spina Bifida and Covered Birth Defects General § 21.8012 Vocational training program for certain children of Vietnam veterans—spina bifida and covered birth defects. VA will provide an evaluation to an...

  3. Heme oxygenase-1 promoter polymorphisms and risk of spina bifida.

    Science.gov (United States)

    Fujioka, Kazumichi; Yang, Wei; Wallenstein, Matthew B; Zhao, Hui; Wong, Ronald J; Stevenson, David K; Shaw, Gary M

    2015-09-01

    Spina bifida is the most common form of neural tube defects (NTDs). Etiologies of NTDs are multifactorial, and oxidative stress is believed to play a key role in NTD development. Heme oxygenase (HO), the rate-limiting enzyme in heme degradation, has multiple protective properties including mediating antioxidant processes, making it an ideal candidate for study. The inducible HO isoform (HO-1) has two functional genetic polymorphisms: (GT)n dinucleotide repeats and A(-413)T SNP (rs2071746), both of which can affect its promoter activity. However, no study has investigated a possible association between HO-1 genetic polymorphisms and risk of NTDs. This case-control study included 152 spina bifida cases (all myelomeningoceles) and 148 non-malformed controls obtained from the California Birth Defects Monitoring Program reflecting births during 1990 to 1999. Genetic polymorphisms were determined by polymerase chain reaction and amplified fragment length polymorphisms/restriction fragment length polymorphisms using genomic DNA extracted from archived newborn blood spots. Genotype and haplotype frequencies of two HO-1 promoter polymorphisms between cases and controls were compared. For (GT)n dinucleotide repeat lengths and the A(-413)T SNP, no significant differences in allele frequencies or genotypes were found. Linkage disequilibrium was observed between the HO-1 polymorphisms (D': 0.833); however, haplotype analyses did not show increased risk of spina bifida overall or by race/ethnicity. Although, an association was not found between HO-1 polymorphisms and risk of spina bifida, we speculate that the combined effect of low HO-1 expression and exposures to known environmental oxidative stressors (low folate status or diabetes), may overwhelm antioxidant defenses and increase risk of NTDs and warrants further study. © 2015 Wiley Periodicals, Inc.

  4. An increase in spina bifida cases in Tunisia, 2008-2011.

    Science.gov (United States)

    Nasri, Kaouther; Ben Fradj, Mohamed Kacem; Aloui, Mariem; Ben Jemaa, Nadia; Masmoudi, Aida; Elmay, Michèle Véronique; Marrakchi, Raja; Siala Gaigi, Soumeya

    2015-05-01

    The term spina bifida refers to a group of neural tube defects that result in malformations of the spinal cord and the surrounding vertebrae. Though the etiologies of spina bifida remain largely unknown, several risk factors have been identified, including feto-maternal characteristics. To discover possible underlying reasons for the increase of spina bifida and identify intervention targets, an investigation was undertaken comparing spina bifida-affected pregnancy notifications in 2008-2011 with notifications in the period 1991-1994. Characteristics and outcomes of births with spina bifida and pregnancy characteristics of mothers were recorded in the medical chart. Comparisons of pregnancies affected by a spina bifida in 2008-2011 were made with pregnancies affected by a spina bifida in the period 1991-1994. Statistical analysis was undertaken using Poisson regression and Chi-squared tests. From 1991 through 1994, the prevalence of identified spina bifida cases was equal to 0.3/10,000 births compared to 1.6/10,000 births in 2008-2011. This increase was statistically significant (Pspina bifida (P=0.02, OR=3.93, CI=1.23-12.47). As well as, maternal blood type was a significant risk factor for the appearance of spina bifida (P=0.008). Results also had shown that fetal weight and term, gestity and parity were significant risk factors for the occurrence of spina bifida (P<0.05).In this study, results have been interpreted with caution due to analyses not being adjusted. This analysis highlighted areas where prevention efforts should be strengthened and surveillance data improved. Copyright © 2014 Elsevier GmbH. All rights reserved.

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

    Science.gov (United States)

    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)

  6. Milestone achievement in emerging adulthood in spina bifida: a longitudinal investigation of parental expectations.

    Science.gov (United States)

    Holbein, Christina E; Zebracki, Kathy; Bechtel, Colleen F; Lennon Papadakis, Jaclyn; Franks Bruno, Elizabeth; Holmbeck, Grayson N

    2017-03-01

    To assess changes over time in parents' expectations of adult milestone achievement (college attendance, full-time job attainment, independent living, marriage, parenthood) for young people with spina bifida, to examine how expectancies relate to actual milestone achievement, and to compare milestone achievement in emerging adults with spina bifida with that of peers with typical development. Sixty-eight families of children with spina bifida (mean age 8y 4mo, 37 males, 31 females) and 68 families of children with typical development (mean age 8y 6mo, 37 males, 31 females) participated at Time 1. At all subsequent timepoints, parents of young people with spina bifida were asked to rate their expectations of emerging adulthood milestone achievement. At Time 7, when participants were 22 to 23 years old, milestone achievement was assessed. Parents of young people with spina bifida lowered their expectations over time for most milestones; parents of children with higher cognitive ability reported decreases of lower magnitude. Parent expectancies were optimistic and unrelated to actual milestone achievement. Emerging adults with spina bifida were less likely than individuals with typical development to achieve all milestones. Optimistic parental expectations may be adaptive for children with spina bifida and their families, although it is important for families to set realistic goals. Healthcare providers serve a key role in helping families of young people with spina bifida prepare for emerging adulthood. © 2016 Mac Keith Press.

  7. Marginal maternal vitamin B12 status increases the risk of offspring with spina bifida.

    NARCIS (Netherlands)

    Groenen, P.; Rooij, I.A.L.M. van; Peer, P.G.M.; Gooskens, R.H.; Zielhuis, G.A.; Steegers-Theunissen, R.P.M.

    2004-01-01

    OBJECTIVE: The purpose of this study was to investigate B vitamins and homocysteine as risk factor for offspring with spina bifida. STUDY DESIGN: Blood samples from 45 mothers and their children with spina bifida and from 83 control mothers and their children were obtained to determine the levels of

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

    Science.gov (United States)

    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…

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

    Science.gov (United States)

    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…

  10. 77 FR 42229 - Gruma Corporation, Spina Bifida Association, March of Dimes Foundation, American Academy of...

    Science.gov (United States)

    2012-07-18

    ... From the Federal Register Online via the Government Publishing Office DEPARTMENT OF HEALTH AND HUMAN SERVICES Food and Drug Administration 21 CFR Part 172 Gruma Corporation, Spina Bifida Association... Corporation, Spina Bifida Association, March of Dimes Foundation, American Academy of Pediatrics, Royal DSM N...

  11. Spina bifida and parental occupation : results from three malformation monitoring programs in Europe

    NARCIS (Netherlands)

    Blatter, B.M.; Bermejo, E.; Roeleveld, N.; Martínez-Frías, M.L.; Siffel, C.

    2000-01-01

    As the evidence for an association between spina bifida and parental agricultural occupations is inconclusive, we evaluated this association and the potential associations between spina bifida and other parental occupations. Three register-based case-referent studies were conducted in Sweden, Spain,

  12. Spina Bifida Care In Kenya Through A Network Of Mobile Clinics ...

    African Journals Online (AJOL)

    Background: Children with spina bifida require ongoing multidisciplinary care in order to prevent complications and improve quality of life. Bethany Crippled Children's Centre of Kenya and BethanyKids at Kijabe Hospital have been providing such care for spina bifida patients through a network of mobile clinics throughout ...

  13. Spina Bifida: Guidelines of Care for Children with Special Health Care Needs.

    Science.gov (United States)

    Minnesota State Dept. of Health, Minneapolis. Services for Children with Handicaps.

    These guidelines were written to help families coordinate the health care that may be needed by a child with spina bifida. The booklet begins with general information about spina bifida. It then discusses the goals of health care, the health care team, the importance of periodic health care, and record keeping procedures. The child's health care…

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

    Science.gov (United States)

    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…

  15. Urological care for children with spina bifida : Individual, tailored and without antibiotic prophylaxis

    NARCIS (Netherlands)

    Zegers, S.H.J.

    2017-01-01

    In our SPIN UTI study, we have focused on the urological problems, urinary tract infections and Quality of Life in spina bifida children. For eighteen months, we have analyzed the diagnosing, treatment and prevention of urinary tract infections in 176 children with spina bifida from Utrecht and

  16. Fractures in spina bifida from childhood to young adulthood.

    Science.gov (United States)

    Trinh, A; Wong, P; Brown, J; Hennel, S; Ebeling, P R; Fuller, P J; Milat, F

    2017-01-01

    This study assessed the prevalence and types of fractures in spina bifida and examined risk factors for fracture. Fracture prevalence was highest in childhood and reduced in adolescence and young adulthood. The importance of maintaining mobility is highlighted by the increased risk of fracture in those who are non-ambulatory. The aims of this study are to study the prevalence and types of fractures according to age group in spina bifida and examine risk factors associated with fracture. This is a retrospective cohort study of 146 individuals with spina bifida aged 2 years or older who attended the paediatric or adult spina bifida multidisciplinary clinic at a single tertiary hospital. Median age at which first fracture occurred was 7 years (interquartile range 4-13 years). Fracture rates in children (ages 2-10), adolescents (ages 11-18) and adults (age > 18) were 10.9/1000 (95 % confidence interval 5.9-18.3), 5.4/1000 (95 % CI 1.5-13.8) and 2.9/1000 (95 % CI 0.6-8.1) patient years respectively. Childhood fractures predominantly involved the distal femur and femoral shaft; these fractures were rarely seen in adulthood. Non-ambulatory status was associated with a 9.8 times higher risk of fracture compared with ambulatory patients (odds ratio 9.8, p = 0.016, 95 % CI 1.5-63.0). Relative risk of re-fracture was 3.1 (95 % CI 1.4-6.8). Urological intervention with intestinal segments was associated with renal calculi (p = 0.037) but neither was associated with fracture. The risk of fracture is lower in adults compared with children with spina bifida. The predominant childhood fracture affects the distal femur, and immobility is the most significant risk factor for fracture. Clinical factors contributing to fracture risk need to be elucidated to enable selection of patients who require investigation and treatment of osteoporosis.

  17. Diffusion tensor MRI and fiber tractography of the sacral plexus in children with spina bifida

    DEFF Research Database (Denmark)

    Haakma, Wieke; Dik, Pieter; ten Haken, Bennie

    2014-01-01

    PURPOSE: It is still largely unknown how neural tube defects in spina bifida affect the nerves at the level of the sacral plexus. Visualizing the sacral plexus in 3 dimensions could improve our anatomical understanding of neurological problems in patients with spina bifida. We investigated...... anatomical and microstructural properties of the sacral plexus of patients with spina bifida using diffusion tensor imaging and fiber tractography. MATERIALS AND METHODS: Ten patients 8 to 16 years old with spina bifida underwent diffusion tensor imaging on a 3 Tesla magnetic resonance imaging system...... compared to 10 healthy controls. RESULTS: Nerves of patients with spina bifida showed asymmetry and disorganization to a large extent compared to those of healthy controls. Especially at the myelomeningocele level it was difficult to find a connection with the cauda equina. Mean, axial and radial...

  18. From Wheelchair to Cane: Elective Transtibial Amputations in a Patient with Spina Bifida.

    Science.gov (United States)

    Mayo, Amanda; Berbrayer, David

    2015-11-01

    Spina bifida is associated with foot deformities, which may lead to foot ulcers, osteomyelitis, and limb amputation. Calcanectomy and Symes amputations have been reported successful in spina bifida. There is lack of evidence for transtibial amputations. This case describes a 27-yr-old woman with L4 level spina bifida who underwent bilateral transtibial amputations. She ambulated with bilateral ankle foot orthoses and canes until age 22. At age 22, she had bilateral foot reconstructive surgeries complicated by nonunion, ulcerations, and osteomyelitis. She was using a wheelchair by age 25. She had elective bilateral transtibial amputations at age 27 for progressive osteomyelitis. Four weeks after amputations, she was fit with bilateral prostheses. On completion of 2 mos of rehabilitation, she ambulated with a cane. This case demonstrates good functional outcomes after transtibial amputations in a young spina bifida patient. Prosthetic fitting should be considered for similar, previously high functioning spina bifida patients with transtibial amputation(s).

  19. Laparoscopic Mitrofanoff continent catheterisable stoma in children with spina bifida

    Directory of Open Access Journals (Sweden)

    Mallikarjun N Reddy

    2015-01-01

    Full Text Available Background: In 1980, Mitrofanoff described the creation of an appendicovesicostomy for continent urinary diversion. This procedure greatly facilitates clean intermittent catheterisation in patients with neurogenic bladder. The purpose of our study was to determine the clinical efficacy of the laparoscopic Mitrofanoff catheterisable stoma for children and adolescents with spina bifida. Materials and Methods: Review of hospital records revealed that 11 children with spina bifida underwent a laparoscopic Mitrofanoff procedure with at least 1-year of follow-up. A four-port transperitoneal laparoscopic approach was used to create a Mitrofanoff appendicovesicostomy. The child was followed-up in the urology clinic at 6 weeks, 3 months, 6 months, 1-year, and then semiannually after that. Questionnaires were administered to determine, from the children′s perspective, the level of satisfaction with catheterisation and the psychosocial implications of catheterisation before and after the creation of the Mitrofanoff continent catheterisable stoma. Results: Of the 11 children, six were female, and five were male. The mean age at presentation to Paediatric urological services was 11 × 3.22 years. Overall the mean operative time was 144.09 × 17.00 min. Mean estimated blood loss was 37.36 × 11.44 cc. None of the cases needed conversion to open. Patient satisfaction with their catheterisation was measured at 2.18 × 0.98 preoperatively, Post-operatively, this improved to 4.27 × 0.46. Statistical analysis using paired t-test showed significance with P < 001. Conclusions: Laparoscopic Mitrofanoff catheterisable stoma is feasible in children with spina bifida and is associated with reasonable outcome with early recovery, resumption of normal activities and excellent cosmesis.

  20. Exploration of internet use: profile and preferences of transition-aged adolescents with spina bifida.

    Science.gov (United States)

    Betz, Cecily L; Smith, Kathryn A; Macias, Kristy; Bui, Kim

    2014-01-01

    A pilot study was conducted to learn about the Internet usage of adolescents with spina bifida. The purpose of this study is to investigate the feasibility for developing an online health care transition intervention. Use of the Internet was examined in a convenience sample of 50 adolescents with spina bifida in the Spina Bifida Clinic at Children's Hospital, Los Angeles. Participants were between 14 to 18 years of age. Data are reported as percentages and frequency distributions. Ninety-two percent of adolescents with spina bifida used the Internet, and of those, 87% used it at home, with an average rate of 2.4 hours per dat. The majority of adolescents used the Internet for homework purposes (83%). Leisure activities, such as listening to music (76%), playing games (70%), meeting new friends/social networking (63%), and watching YouTube videos (61%), were also reported. Most participants have never used the Internet to obtain spina bifida information (67%) or to meet other adolescents with spina bifida (85%). Internet application as an outreach tool for education and transition planning should be further explored in future studies. Given the widespread reported access to the Internet among our participants, results suggest that a Web-based outreach tool for education and health care transition planning have the potential to be accessible and beneficial to adolescents with spina bifida with the facilitated support of health care professionals.

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

    Science.gov (United States)

    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

    2015-12-01

    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 and to investigate factors associated with ambulatory status. Cross-sectional analysis of data from a multisite patient registry. Descriptive analysis of mobility variables for 2604 individuals with spina bifida aged 5 and older are presented from 19 sites in the United States. Analysis of a subset of National Spina Bifida Patient Registry data from 380 individuals from 3 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. This study is the first to examine factors associated with ambulatory status in a large sample of individuals with myelomeningocele and nonmyelomeningocele subtypes of spina bifida. Results of this study delineate the breadth of strength and functional abilities within the different age groups and subtypes of spina bifida. The results may inform physicians of the characteristics of those with varying ambulatory abilities.

  2. Peripheral Gangrene Complicating Systemic Lupus Erythematosus in a Patient with Spina Bifida: A Case Report

    Directory of Open Access Journals (Sweden)

    Vijay S

    2017-03-01

    Full Text Available An adolescent girl, a known case of spina bifida with systemic lupus, presented with bluish discolouration of three toes of the right foot. She had thrombosis of bilateral popliteal arteries. She underwent percutaneous transluminal angioplasty (PTA of both legs and Chopart amputation of the right foot. Systemic lupus erythematosus (SLE occurring in a patient with spina bifida has not been previously reported. Weakness, sensory loss, lack of normal ambulation, endarteritis, antiphospholipid antibody syndrome are common contributory factors for peripheral gangrene in patients with spina bifida with systemic lupus erythematosus.

  3. Outcomes of intra-detrusor injections of botulinum toxin in patients with spina bifida: A systematic review.

    Science.gov (United States)

    Hascoet, Juliette; Manunta, Andrea; Brochard, Charlène; Arnaud, Alexis; Damphousse, Mireille; Menard, Hélène; Kerdraon, Jacques; Journel, Hubert; Bonan, Isabelle; Odent, Sylvie; Fremond, Benjamin; Siproudhis, Laurent; Gamé, Xavier; Peyronnet, Benoit

    2017-03-01

    Bladder management in spina bifida patients relies on clean intermittent catheterization and oral antimuscarinics with a significant failure rate. The efficacy of intradetrusor injections of botulinum toxin has been confirmed in patients with spinal cord injury or multiple sclerosis but not in patients with myelomeningocele. To conduct a systematic review of current evidence regarding the efficacy of intra-detrusor injections of Botulinum Toxin A (BTX-A) in spina bifida patients with neurogenic detrusor overactivity (NDO) refractory to antimuscarinics. A research has been conducted on Medline and Embase using the keywords: ("spina bifida" OR "myelomeningocele" OR "dysraphism") AND "toxin." The search strategy and studies selection were performed using the PICOS method according to the PRISMA statement. Twelve published series were included (n = 293 patients). All patients were spina bifida but this assumption is not supported by high level of evidence studies. There is no data available in adult patients. Neurourol. Urodynam. 36:557-564, 2017. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  4. The Impact of Family, Peer, and School Contexts on Depressive Symptoms in Adolescents with Spina Bifida

    Science.gov (United States)

    Essner, Bonnie S.; Holmbeck, Grayson N.

    2010-01-01

    Objective Based on social ecological theory, this study examined the joint relations among adolescents’ family, peer, and school contexts and depressive symptoms in youth with spina bifida using cumulative, protective, and specific effects models. Method Sixty families of adolescents with spina bifida and 65 comparison families reported on adolescent’s positive experiences within these contexts and on depressive symptoms when youth were 14–15 and 16–17 years old. Results Adolescents with spina bifida had fewer total positive contexts and less positive experience within peer and school contexts, as compared to typically developing adolescents. Greater total number of positive contexts and higher levels of positive experiences within family and school contexts were associated with fewer depressive symptoms for both groups; peer positive experiences were related to lower depressive symptoms for typically developing adolescents only. Conclusion Adolescents with spina bifida have fewer positive contexts, which may place them at risk for higher levels of depressive symptoms. PMID:21171793

  5. A Camp-based Intervention Targeting Independence Among Individuals with Spina Bifida

    Science.gov (United States)

    O’Mahar, Kerry; Jandasek, Barbara; Zukerman, Jill

    2010-01-01

    Objective To design and evaluate a camp-based intervention, the goal of which was to increase independence among children, adolescents, and adults with spina bifida. Methods An intervention targeting independence was embedded within a typical week long camp experience. The intervention consisted of the following: collaborative (i.e., parent and camper) goal identification, group sessions consisting of psycho-education and cognitive tools, and goal monitoring by camp counselors. Camper and parent report of demographic variables, goal attainment, spina bifida knowledge, and independence were gathered. Interventionist report of adherence to the treatment manual was also collected. Results Campers made significant gains in individual goals, management of spina bifida responsibilities, and independence with general spina bifida tasks, with medium effect sizes observed in goal attainment. Conclusions Results indicated that significant progress was made on individually oriented goals from pre- to post-camp. Design issues are discussed. PMID:20026569

  6. A study of the clinical profile and outcome of spina bifida

    OpenAIRE

    Theophilus Nikita Kumar; Ramesh M.K

    2016-01-01

    Neural tube defects (NTDs) are a group of congenital anomalies characterized by defects in dorsal midline structures, including neural tissue, dura, muscle, bone and/or skin. The clinical presentations and the follow-up of these patients requires attention to various end organs besides the nervous system. To evaluate the clinical profile and surgical outcome of children with spina bifida. Out of a total of 74 patients treated at our institute for spina bifida between June 2013 to ...

  7. Prenatal latex sensitization in patients with spina bifida: a pilot study.

    Science.gov (United States)

    Boettcher, Michael; Goettler, Susanne; Eschenburg, Georg; Kracht, Thorben; Kunkel, Philip; Von der Wense, Axel; Reinshagen, Konrad

    2014-03-01

    Patients with spina bifida are particularly vulnerable to developing immunoglobulin E (IgE)-mediated latex sensitization. Even though many risk factors leading to latex allergy in these patients have been described, it is still unclear whether the increased prevalence of latex sensitization is disease associated or due to the procedures used to treat spina bifida. The aim of this study was to assess prenatal latex sensitization in patients with spina bifida by examining IgE levels in umbilical cord blood. Patients with spina bifida and matched healthy infants were recruited from the University Medical Center Hamburg-Eppendorf and Children's Hospital Altona. Latex-specific and total IgE were assessed in umbilical cord blood using ImmunoCAP testing to evaluate the degree of prenatal latex sensitization. Twenty-two subjects, 10 with spina bifida and 12 healthy individuals, were included. Subjects were selected after matching for sex, gestational age, weight, parental allergy profile, number of prenatal examinations, and utilization of latex tools during pregnancy (propensity score estimates, p = 0.36). In patients with spina bifida, latex-specific and total IgE levels were significantly higher than those in healthy individuals (p = 0.001). After normalization to total IgE, latex-specific IgE levels were higher, yet not significantly increased (p = 0.085). Perinatally, there is a significant augmentation of total and latex-specific IgE in patients with spina bifida. After correcting for total IgE, latex-specific IgE was increased, yet not significantly higher than in matched, healthy controls. This pilot study gives novel insights in the immunological reactions related to spina bifida. The increased latex-specific IgE levels could possibly be associated with the occurrence of a latex allergy in the future.

  8. Prevention of spina bifida: folic acid intake during pregnancy in Gulu district, northern Uganda.

    Science.gov (United States)

    Bannink, Femke; Larok, Rita; Kirabira, Peter; Bauwens, Lieven; van Hove, Geert

    2015-01-01

    The intake of folic acid before conception and during the first trimester of pregnancy can prevent spina bifida. This paper describes folic acid intake in women in Gulu district in northern Uganda. Structured interviews were held with 394 women attending antenatal care (ANC), 15 mothers of children with spina bifida, and 35 health workers in 2012 and 2013. SPSS16 was used for data analysis. 1/4 mothers of children with spina bifida took folic acid during late pregnancy, none preconception. None had knowledge about folic acid and spina bifida prevention. 33.5% of women attending ANC had ever heard about spina bifida, 1% knew folic acid intake can prevent spina bifida. 42.4% took folic acid supplements in late pregnancy, 8.1% during the first trimester, none preconception. All women said to have eaten food rich in folic acid. None were aware about fortified foods. 7% of health workers understood the importance of early folic acid intake. All health workers recommended folic acid intake to women attending ANC. 20% of the health workers and 25% of the women said folic acid supplements are not always available. Folic acid intake is limited in northern Uganda. This is attributed to limited education and understanding of women and health workers about the importance of early folic acid intake, late presentation of women at ANC, poor supply chain and dilapidated health services caused by war and poverty. A combination of food fortification, sensitization of health workers, women, and improving folic acid supply is recommended.

  9. Spina bifida and lower limb amputation in Northern Ireland: A retrospective study of demographics and outcome.

    Science.gov (United States)

    Graham, Lorraine

    2017-10-01

    Spina bifida is an uncommon cause for lower limb amputation. The causes and level of amputation and mobility outcome for these patients have not been reported previously. To identify the causes and level of amputation and the mobility outcome for amputee patients with spina bifida. Retrospective case series. Chart review of patients identified by computer as having an amputation secondary to neurological or congenital cause. Additional patients identified from the Regional Spina Bifida Medical Clinic. Demographics, cause and level of mobility pre- and post-amputation recorded from the prosthetic notes. In total, 16 patients were identified who had a diagnosis of spina bifida and a lower limb amputation. Mean age at the time of amputation was 28.5 years. In total, 15 patients had a transtibial amputation. In total, 14 patients post-amputation were able to maintain their mobility, wheelchair or walking, without any change in type of aid needed. Patients with spina bifida appear to require lower limb amputation at a younger age than patients with peripheral vascular disease. Almost all patients had prior chronic skin infection/osteomyelitis as precursors for amputation. The most common level for amputation was transtibial. Mobility was maintained for all patients, albeit for two in a more supported way. Clinical relevance Spina bifida is an uncommon reason for amputation. Patients, are often younger and medically complicated. Chronic skin ulceration, was the most common indication for amputation. Wheelchair or walking ambulance was maintained at the same level for most patients.

  10. Role of Maternal Serum Alpha-Fetoprotein and Ultrasonography in Contemporary Detection of Spina Bifida.

    Science.gov (United States)

    Racusin, Diana A; Villarreal, Sarah; Antony, Kathleen M; Harris, R Alan; Mastrobattista, Joan; Lee, Wesley; Shamshirsaz, Alireza A; Belfort, Michael; Aagaard, Kjersti M

    2015-12-01

    Midtrimester maternal serum alpha-fetoprotein (MSAFP) and sonographic evaluation have been used to screen for spina bifida. With the increased uptake of cell-free DNA (cfDNA) and first trimester screening, MSAFP levels may no longer be obtained routinely. Our aim was to evaluate a pediatric neurosurgical referral center database of spina bifida cases to determine the antenatal detection rate and means of diagnosis. Nested case series of all spina bifida cases referred postnatally from 2007 to 2013. Data were abstracted from the maternal record and rates of antenatal detection with MSAFP and sonographic screening were determined. Of the 105 postnatally referred cases, 11.4% (12/105) were not identified until delivery. Overall, 39% of the cases had MSAFP screening. The odds ratio for sonogram-based detection of spina bifida was 4.9 (95% confidence interval, 2-11.9). Of the neonatally detected cases, 100% had prenatal care and 91.6% (11 of the 12 cases) had documented sonography. We have found that 11.4% of the spina bifida cases were not detected before delivery. Nine out of the 12 cases of antenatally missed spina bifida were not screened using MSAFP. Our findings support the approach of midtrimester MSAFP screening combined with sonographic evaluation. We speculate that prenatal screening with MSAFP is underutilized. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

  11. The Kennedy Krieger Independence Scales–Spina Bifida Version: A Measure of Executive Components of Self-Management

    Science.gov (United States)

    Jacobson, Lisa A.; Tarazi, Reem A.; McCurdy, Mark D.; Schultz, Scott; Levey, Eric; Mahone, E. Mark; Zabel, T. Andrew

    2014-01-01

    Purpose/Objective Successful implementation of functional self-care skills depends upon adequate executive functioning; however, many scales assessing adaptive skills do not address the inherent executive burden of these tasks. This omission is especially relevant for individuals with spina bifida, for whom medical self-care tasks impose a significant burden requiring initiation and prospective memory. The Kennedy Krieger Independence Scales–Spina Bifida Version (KKIS–SB) is a caregiver-reported measure designed to address this gap; it assesses skills for managing both typical and spina bifida-related daily self-care demands, with a focus on the timely and independent initiation of adaptive skills. Research Method/Design Parents of 100 youth and young adults with spina bifida completed the KKIS–SB. Exploratory factor analysis and Pearson's correlations were used to assess the factor structure, reliability, and construct validity of the KKIS–SB. Results The scale demonstrates excellent internal consistency (Cronbach's alpha = .891). Exploratory factor analysis yielded four factors, explaining 65.1% of the total variance. Two primary subscales were created, initiation of routines and prospective memory, which provide meaningful clinical information regarding management of a variety of typical (e.g., get up on time, complete daily hygiene routines on time) and spina bifida-specific self-care tasks (e.g., begin self-catheterization on time, perform self-examination for pressure sores). Conclusions/Implications Based upon internal consistency estimates and correlations with measures of similar constructs, initial data suggest good preliminary reliability and validity of the KKIS–SB. PMID:23438006

  12. The integration (mainstreaming) of spina bifida children into ordinary schools.

    Science.gov (United States)

    Lonton, A P

    1981-12-01

    In 1976, an aggressive policy of integrating spina bifida children into ordinary schools was mounted in Sheffield. Analysis of the school placement pattern of 1235 patients, aged 2-29 years, showed an increase from 25% to 64% integrated for children born in 1968 and 1976, respectively. However, about a half of this 39% increase was attributable to selective non-treatment. The major deterrents to integration were found to be low intelligence and wheelchair dependency. Only 4% of children with IQs below 70 were in ordinary schools. 91% of children with IQs below 45 were in mentally handicapped schools. 88% of children with IQs between 46 and 70 were in physically handicapped schools. 18% of children with wheelchairs only were integrated, and this reduced to 8% if they also had valves and were incontinent. On the other hand, neither incontinence nor valve dependency on their own were major problems with respect to ordinary schooling.

  13. Neuropsychological assessment of attention in children with spina bifida

    Directory of Open Access Journals (Sweden)

    Vinck Anja

    2009-05-01

    Full Text Available Abstract Background Children with the severe form of spina bifida (SBM: spina bifida with myelomeningocele with accompanying hydrocephalus may manifest attention deficits, and have a similar psychological profile to children with hydrocephalus due to other etiologies. It is unclear to what extent tests to assess attention in SBM are confounded by the accompanying cognitive or visual-motor impairments. The aim of this study was to analyse attention functions by administering two different types of attention tests, one with high and the other with low cognitive and motor requirements. This enabled the possible interaction between attention and cognitive and motor impairment to be assessed. Methods The study group comprised 31 children with SBM with shunted hydrocephalus. Twenty children with SB-only formed a closely matched comparison group. Of these, 19 children with SBM and 18 with SB had a full-scale IQ (FSIQ higher than 70. All had undergone spinal surgery and all children with SBM had been shunted within the first months of life. Between 6 and 15 years of age, the children were assessed on focused and sustained attention, encoding, and distractibility/impulsivity, using both traditional tests and computerized attention tests. Results Compared to the SB group, attention scores of children with SBM were lower on the traditional tests, but when interfering cognitive and visual-motor requirements were eliminated using the computerised tasks, most differences disappeared. Furthermore, in contrast to traditional attention tasks, computerized tests showed no significant correlations with IQ-scores and visual-motor skills. Conclusion Assessment of attention functions in children with SBM by traditional tests may be misleading, because this paediatric population with complex cerebral malformations has difficulty with the cognitive and visual-motor requirements. To control for these interactions, the use of both traditional and computerized attention

  14. Spina bifida: Preventief beleid kan effectiever [Spina bifida: Prevention can be more effective

    NARCIS (Netherlands)

    Barth, P.G.; Hirasing, R.A.

    2000-01-01

    De naam ‘spina bifida’ - letterlijk: gespleten doornuitsteeksel - is eigenlijk een eufemisme. In werkelijkheid duidt de term op een segmentaal defect, meestal lumbosacraal gelegen, in de ontwikkeling van de neurale plaat tot neurale buis. De sluiting van de neurale buis vindt in de eerste 4 weken

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

    Science.gov (United States)

    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.

  16. Population-based study to determine mortality in spina bifida: New York State Congenital Malformations Registry, 1983 to 2006.

    Science.gov (United States)

    Kancherla, Vijaya; Druschel, Charlotte M; Oakley, Godfrey P

    2014-08-01

    The lifetime risk of death among individuals with spina bifida is 10-times higher compared with the general population. A population-based analysis on cause-specific mortality among individuals spina bifida is lacking. Using statewide, population-based New York Congenital Malformations Registry, we examined all births between years 1983 and 2006, and identified 1988 births with spina bifida and 10,951 births with congenital hypertrophic pyloric stenosis (CHPS). We linked registry records to birth and death files from vital records, and determined age- and cause-specific mortality for isolated and multiple spina bifida, and compared the findings with the less fatal CHPS. Mortality in spina bifida is significantly high compared with CHPS (16.9% vs. 0.96%, respectively). The probability of survival in spina bifida was lower compared with CHPS. A majority of the deaths in spina bifida occurred in infants within the first year of birth; however, an increased risk of death persisted in young adulthood for both isolated and multiple cases of spina bifida. The common causes of death in children with spina bifida were hydrocephalus, infections, cardiac anomalies, pneumonia, and pulmonary embolism; while infections, heart or kidney failure, injuries and neoplasms contributed to deaths in adults. We conclude that mortality in spina bifida is a large concern, and individuals living with the defect require improved clinical care for lethal medical complications. Primary prevention of spina bifida through mandatory folic acid fortification remains as the best strategy to reduce both disability and mortality associated with this defect across the world. © 2014 Wiley Periodicals, Inc.

  17. 38 CFR 3.814 - Monetary allowance under 38 U.S.C. chapter 18 for an individual suffering from spina bifida whose...

    Science.gov (United States)

    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...

  18. Bowel management and continence in adults with spina bifida: Results from the National Spina Bifida Patient Registry 2009-15.

    Science.gov (United States)

    Wiener, John S; Suson, Kristina D; Castillo, Jonathan; Routh, Jonathan C; Tanaka, Stacy; Liu, Tiebin; Ward, Elisabeth; Thibadeau, Judy; Joseph, David; Registry, National Spina Bifida Patient

    2017-12-11

    Advances in care have allowed most children with spina bifida (SB) to live to adulthood. The majority have neuropathic bowel dysfunction (NBD), resulting in constipation, incontinence, and diminished quality of life. We sought to 1) describe contemporary NBD management and continence outcomes of adults with SB; 2) describe differences from younger patients; and 3) assess for association with socio-economic factors. We analyzed data on NBD management and continence from the National Spina Bifida Patient Registry (NSBPR). Patients were segregated into young children (5-11 years), adolescents (12-19 years), and adults (20 years and older). A strict definition of continence was utilized. Statistical analysis compared cohorts by gender, ethnicity, SB type, lesion level, insurance status, educational attainment, employment status, and continence. A total of 5209 SB patients were included, of whom 1370 (26.3%) were adults. Management and continence varied by age and SB type. Oral medication use did not differ between groups (5.2-6.6%). Suppositories and rectal enemas were used only by 11.5% of adults, which was significantly less than among school-aged children. Antegrade enemas were used by 17.7% of adults which was significantly less than among adolescents (27.2%). Adults were more likely to use digital stimulation or disimpaction or have undergone a colostomy. Bowel continence was reported by 58.3% of overall adult cohort: 55.6% of adults with myelomeningocele and 74.9% with non-myelomeningocele. Bowel continence was significantly associated with employment (p= 0.0002), private insurance (p= 0.0098), non-myelomeningocele type of SB (p= 0.0216) and educational attainment (p= 0.0324) on univariate analysis but only with employment on multivariable logistic regression (p= 0.0027). Bowel management techniques differed between adults and younger patients with SB. Bowel continence was reported by over half of SB adults and was associated with socio-economic factors.

  19. A unifying hypothesis for hydrocephalus, Chiari malformation, syringomyelia, anencephaly and spina bifida

    Directory of Open Access Journals (Sweden)

    Williams Helen

    2008-04-01

    Full Text Available Abstract This work is a modified version of the Casey Holter Memorial prize essay presented to the Society for Research into Hydrocephalus and Spina Bifida, June 29th 2007, Heidelberg, Germany. It describes the origin and consequences of the Chiari malformation, and proposes that hydrocephalus is caused by inadequate central nervous system (CNS venous drainage. A new hypothesis regarding the pathogenesis, anencephaly and spina bifida is described. Any volume increase in the central nervous system can increase venous pressure. This occurs because veins are compressible and a CNS volume increase may result in reduced venous blood flow. This has the potential to cause progressive increase in cerebrospinal fluid (CSF volume. Venous insufficiency may be caused by any disease that reduces space for venous volume. The flow of CSF has a beneficial effect on venous drainage. In health it moderates central nervous system pressure by moving between the head and spine. Conversely, obstruction to CSF flow causes localised pressure increases, which have an adverse effect on venous drainage. The Chiari malformation is associated with hindbrain herniation, which may be caused by low spinal pressure relative to cranial pressure. In these instances, there are hindbrain-related symptoms caused by cerebellar and brainstem compression. When spinal injury occurs as a result of a Chiari malformation, the primary pathology is posterior fossa hypoplasia, resulting in raised spinal pressure. The small posterior fossa prevents the flow of CSF from the spine to the head as blood enters the central nervous system during movement. Consequently, intermittent increases in spinal pressure caused by movement, result in injury to the spinal cord. It is proposed that posterior fossa hypoplasia, which has origins in fetal life, causes syringomyelia after birth and leads to damage to the spinal cord in spina bifida. It is proposed that hydrocephalus may occur as a result of

  20. Diffusion Tensor Magnetic Resonance Imaging and Fiber Tractography of the Sacral Plexus in Children with Spina Bifida

    NARCIS (Netherlands)

    Haakma, Wieke; Dik, Pieter; ten Haken, Bennie; Froeling, Martijn; Nievelstein, Rutger A. J.; Cuppen, Inge; de Jong, Tom P. V. M.; Leemans, Alexander

    2014-01-01

    Purpose: It is still largely unknown how neural tube defects in spina bifida affect the nerves at the level of the sacral plexus. Visualizing the sacral plexus in 3 dimensions could improve our anatomical understanding of neurological problems in patients with spina bifida. We investigated

  1. Impact on spina bifida screening of shifting prenatal Down syndrome maternal serum screening from the second trimester to the first.

    Science.gov (United States)

    Spaggiari, Emmanuel; Dreux, Sophie; Stirnemann, Julien J; Czerkiewicz, Isabelle; Houfflin-Debarge, Véronique; Segonne, Alexandra; Jouannic, Jean-Marie; Ville, Yves; Muller, Francoise

    2017-07-01

    Shifting screening for trisomy 21 to the first trimester has resulted in the loss of maternal serum alpha-fetoprotein screening for spina bifida. The aim of this study was to study the impact on open spina bifida prenatal screening. We reviewed prenatally diagnosed cases of spina bifida over three years: 2009 (only second-trimester screening, MSM2T), 2010 (transient period) and 2011 (majority first-trimester screening, MSM1T). Cases were assigned to three groups based on maternal serum markers (MSM2T, MSM1T and 'not performed'). Gestational age at diagnosis of spina bifida was compared between these three groups and between the years 2009 and 2011. Median gestational ages at diagnosis of the 742 spina bifida cases between the three groups were 22 weeks [18 +6 -23], 22 +1  weeks [21 +3 -23] and 21 +4  weeks [14 +1 -23], respectively (P Spina bifida diagnosis at 14-20 weeks declined from 38.8% in 2009 to 13.3% in 2011 (P spina bifida and resulted in a decrease of 25% of cases of spina bifida detected before 20 weeks. © 2017 John Wiley & Sons, Ltd. © 2017 John Wiley & Sons, Ltd.

  2. Impact of introduction of mid-trimester scan on pregnancy outcome of open spina bifida in The Netherlands

    NARCIS (Netherlands)

    Fleurke-Rozema, J. H.; Vogel, T. A.; Voskamp, B. J.; Pajkrt, E.; van den Berg, P. P.; Beekhuis, J. R.; Bilardo, C. M.; Brouwer, O. F.; de Walle, H. E. K.; Snijders, R. J. M.

    2014-01-01

    To examine the impact of introduction of the mid-trimester scan on pregnancy outcome in cases of open spina bifida in two regions of The Netherlands. This was a retrospective cohort study of 190 cases of open spina bifida diagnosed pre- or postnatally, with an estimated date of delivery between 2003

  3. Impact of introduction of mid-trimester scan on pregnancy outcome of open spina bifida in The Netherlands

    NARCIS (Netherlands)

    Fleurke-Rozema, J. H.; Vogel, T. A.; Voskamp, B. J.; Pajkrt, E.; van den Berg, P. P.; Beekhuis, J. R.; Bilardo, C. M.; Brouwer, O. F.; de Walle, H. E. K.; Snijders, R. J. M.

    Objective To examine the impact of introduction of the mid-trimester scan on pregnancy outcome in cases of open spina bifida in two regions of The Netherlands. Methods This was a retrospective cohort study of 190 cases of open spina bifida diagnosed pre- or postnatally, with an estimated date of

  4. A common ABCC2 promoter polymorphism is not a determinant of the risk of spina bifida.

    Science.gov (United States)

    Jensen, Liselotte E; Wall, Amelia M; Cook, Michelle; Hoess, Katy; Thorn, Caroline F; Whitehead, Alexander S; Mitchell, Laura E

    2004-06-01

    There is compelling evidence that the risk of spina bifida, a malformation of the caudal neural tube, is associated with maternal and/or embryonic disturbances in folate/homocysteine metabolism. Hence, functional variants of genes that influence folate/homocysteine metabolism constitute a biologically plausible group of candidate risk factors for spina bifida and other neural tube defects. One such candidate is ABCC2, the gene encoding ABCC2, (a.k.a. canalicular multispecific organic anion transporter [cMOAT], multidrug resistance related protein 2 [MRP2]), a member of the ABC transporter family that effluxes natural folates and anti-folate drugs such as methotrexate. The association between the risk of spina bifida and both the maternal and embryonic ABCC2 C(-24)T genotype was evaluated by using the transmission disequilibrium test and log-linear modeling. These analyses provided no evidence that the risk of spina bifida was significantly related to either the maternal or embryonic ABCC2 C(-24)T genotype. The results of the present analyses suggest that the C(-24)T variant of the ABCC2 gene is not a major determinant of spina bifida risk. Copyright 2004 Wiley-Liss, Inc.

  5. Association between clean intermittent catheterization and urinary tract infection in infants and toddlers with spina bifida.

    Science.gov (United States)

    Kaye, I Y; Payan, M; Vemulakonda, V M

    2016-10-01

    The primary goal of urologic management in children with spina bifida is to reduce the risk of urinary tract infection (UTI) and associated renal injury. While clean intermittent catheterization (CIC) has been the mainstay of treatment, recent studies have suggested that this approach is not without risk. The objective of this study was to examine the association between alternative bladder management strategies and UTI in infants and toddlers with spina bifida. A retrospective cohort study was conducted on spina bifida patients, aged 0-3 years, seen in a multidisciplinary spinal defects clinic between 2008 and 2013. Inclusion criteria included: a primary diagnosis of meningocele, myelomeningocele, or lipomyelomeningocele. Patients were excluded if they had: spina bifida who were initially managed with spontaneous voiding had a lower risk of UTI than those managed with CIC. Patients who switched to CIC after a period of initial observation with voiding did not have a significantly different risk of UTI compared with those managed with CIC alone. These findings suggest that early initiation of CIC may not be warranted in all infants with spina bifida. Further studies are needed to more clearly define optimal indications for initiation of CIC in these patients. Copyright © 2016 Journal of Pediatric Urology Company. Published by Elsevier Ltd. All rights reserved.

  6. Rare deleterious variants in GRHL3 are associated with human spina bifida.

    Science.gov (United States)

    Lemay, Philippe; De Marco, Patrizia; Emond, Alexandre; Spiegelman, Dan; Dionne-Laporte, Alexandre; Laurent, Sandra; Merello, Elisa; Accogli, Andrea; Rouleau, Guy A; Capra, Valeria; Kibar, Zoha

    2017-06-01

    Neural tube defects, including spina bifida, are among the most common birth defects caused by failure of neural tube closure during development. They have a complex etiology involving largely undetermined environmental and genetic factors. Previous studies in mouse models have implicated the transcription factor Grhl3 as an important factor in the pathogenesis of spina bifida. In the present study, we conducted a resequencing analysis of GRHL3 in a cohort of 233 familial and sporadic cases of spina bifida. We identified two novel truncating variants: one homozygous frameshift variant, p.Asp16Aspfs*10, in two affected siblings and one heterozygous intronic splicing variant, p.Ala318Glyfs*26. We also identified five missense variants, one of which was demonstrated to reduce the activation of gene targets in a luciferase reporter assay. With the previously identified p.Arg391Cys variant, eight variants were found in GRHL3. Comparison of the variant rate between our cohort and the ExAC database identified a significant enrichment of deleterious variants in GRHL3 in the whole gene and the transactivation region in spina bifida patients. These data provide strong evidence for a role of GRHL3 as a predisposing factor to spina bifida and will help dissect the complex etiology and pathogenic mechanisms of these malformations. © 2017 Wiley Periodicals, Inc.

  7. First trimester maternal serum alpha-fetoprotein is not raised in pregnancies with open spina bifida.

    Science.gov (United States)

    Spencer, Kevin; Khalil, Asma; Brown, Louise; Mills, Ian; Horne, Hannah

    2014-02-01

    Two recent studies have suggested that maternal serum alpha fetoprotein (AFP) levels are increased in the first trimester of pregnancies in which the fetus has an open spina bifida. This is contrary to previously published studies. This study assesses further whether maternal serum AFP is elevated in the first trimester in cases with open spina bifida. Cases with open spina bifida were identified from our fetal database, and corresponding first trimester screening samples were retrieved and analysed for maternal serum AFP. A control group was selected by taking three samples matched for gestational age (exact day), ethnicity and smoking status and received in the laboratory on the same day. AFP was measured with the Kryptor platform and free β-hCG and pregnancy-associated plasma protein A results were available from the fetal database. Thirty-nine open spina bifida cases were identified with a control group of 126 cases. The median multiple of the median AFP in the cases were not significantly different from the controls (0.92 vs 1.06 p = 0.3511) as was the case for free β-hCG (0.87 vs 0.95 p = 0.7146) and pregnancy-associated plasma protein A (1.04 vs 1.04 p = 0.261). Our results confirm that maternal serum biochemical markers in the first trimester are unable to distinguish cases in which the fetus has open spina bifida. © 2013 John Wiley & Sons, Ltd.

  8. Diffusion tensor magnetic resonance imaging and fiber tractography of the sacral plexus in children with spina bifida

    DEFF Research Database (Denmark)

    Haakma, Wieke; Dik, Pieter; ten Haken, Bennie

    2014-01-01

    PURPOSE: It is still largely unknown how neural tube defects in spina bifida affect the nerves at the level of the sacral plexus. Visualizing the sacral plexus in 3 dimensions could improve our anatomical understanding of neurological problems in patients with spina bifida. We investigated...... anatomical and microstructural properties of the sacral plexus of patients with spina bifida using diffusion tensor imaging and fiber tractography. MATERIALS AND METHODS: Ten patients 8 to 16 years old with spina bifida underwent diffusion tensor imaging on a 3 Tesla magnetic resonance imaging system...... compared to 10 healthy controls. RESULTS: Nerves of patients with spina bifida showed asymmetry and disorganization to a large extent compared to those of healthy controls. Especially at the myelomeningocele level it was difficult to find a connection with the cauda equina. Mean, axial and radial...

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

    Science.gov (United States)

    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, Pself-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.

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

    Science.gov (United States)

    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

  11. Subluxation and dislocation of the hip in children with spina bifida (review

    Directory of Open Access Journals (Sweden)

    A. G. Baindurashvili

    2013-01-01

    Full Text Available Subluxation or dislocation of the hip joint develops in 30-50% children with spina bifida during the first 2-3 years of life. These problems results from force disbalance between muscle group and other structural changes of the hip and pelvis components of the joint. The goal of treatment subluxation and dislocation of the hip joint in children with spina bifida is to make comfortable daily functions, eliminate the pain, provide the mobility and social independent. Management of subluxation and dislocation in children with spina bifida had changed in the last years because of the analysis long-term results. Indications for surgical treatment were determined more clearly, what made the results of treatment better.

  12. A trauma-informed approach supports health and development in children and youth with spina bifida.

    Science.gov (United States)

    Meneses, Veronica; Cruz, Natalie

    2017-12-11

    Children with developmental disabilities may be at greater risk for experiencing maltreatment and traumatic events, threats to their physical and psychological safety and well-being. Young children and youth with spina bifida benefit from being considered in light of this risk, and may be especially vulnerable given the complexity of their neurodevelopmental condition. A trauma-informed approach brings together evidence from the neurosciences, epidemiology and psychology to promote improved developmental, behavioral, physical and mental health status. Incorporating a trauma-informed approach strengthens a longitudinal, interdisciplinary and developmentally-oriented care model for children and youth with spina bifida. A case example further illustrates how using a trauma-informed approach and evidence-based interventions can foster the development and well-being of youth with spina bifida who have been impacted by a traumatic event.

  13. 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.

    Science.gov (United States)

    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.

  14. Retrospective study of cumulative diagnostic radiation exposure during childhood in patients with spina bifida.

    Science.gov (United States)

    Smookler, Gregory; Deavenport-Saman, Alexis

    2015-10-01

    The Biological Effects of Ionizing Radiation Committee of the National Academy of Sciences in 2005 and other expert panels have warned that risk of cancer increases with higher doses of radiation. Children with spina bifida and hydrocephalus have far greater exposure to radiation than the average person, starting almost directly after birth and continuing throughout their lifetimes. The purpose of this study was to estimate the amount of ionizing radiation that patients with spina bifida and hydrocephalus are exposed to during childhood from diagnostic imaging. Thirty patients, ages 18 years or older, with spina bifida and hydrocephalus were randomly selected from a spina bifida clinic and their radiology records were reviewed. Descriptive analyses were conducted. The total radiation exposure was then calculated for the study group, and the mean effective dose per patient was determined. In the study group, during their first 18 years, each patient had a mean of 55.1 studies and a median of 45 radiologic studies, a mean of 9.6 brain CT scans, and a mean cumulative effective dose of 81.9 mSv (2.6 mSv/patient/year over 18 years) and a median cumulative effective dose of 77.2 mSV of accumulated radiation exposure (4.5 mSv/patient/year over 18 years). Clinicians should recognize that increased radiation exposure puts patients with spina bifida and hydrocephalus at higher risk for cancer. The population of children and adults with spina bifida and hydrocephalus should be surveyed for incidence of cancer. Copyright © 2015 Elsevier Inc. All rights reserved.

  15. Altered microRNA expression profiles in a rat model of spina bifida.

    Science.gov (United States)

    Qin, Pan; Li, Lin; Zhang, Da; Liu, Qiu-Liang; Chen, Xin-Rang; Yang, He-Ying; Fan, Ying-Zhong; Wang, Jia-Xiang

    2016-03-01

    MicroRNAs (miRNAs) are dynamically regulated during neurodevelopment, yet few reports have examined their role in spina bifida. In this study, we used an established fetal rat model of spina bifida induced by intragastrically administering olive oil-containing all-trans retinoic acid to dams on day 10 of pregnancy. Dams that received intragastric administration of all-trans retinoic acid-free olive oil served as controls. The miRNA expression profile in the amniotic fluid of rats at 20 days of pregnancy was analyzed using an miRNA microarray assay. Compared with that in control fetuses, the expression of miRNA-9, miRNA-124a, and miRNA-138 was significantly decreased (> 2-fold), whereas the expression of miRNA-134 was significantly increased (> 4-fold) in the amniotic fluid of rats with fetuses modeling spina bifida. These results were validated using real-time quantitative reverse-transcription polymerase chain reaction. Hierarchical clustering analysis of the microarray data showed that these differentially expressed miRNAs could distinguish fetuses modeling spina bifida from control fetuses. Our bioinformatics analysis suggested that these differentially expressed miRNAs were associated with many cytological pathways, including a nervous system development signaling pathway. These findings indicate that further studies are warranted examining the role of miRNAs through their regulation of a variety of cell functional pathways in the pathogenesis of spina bifida. Such studies may provide novel targets for the early diagnosis and treatment of spina bifida.

  16. Factors affecting the school placement of children with spina bifida.

    Science.gov (United States)

    Wasson, C M; Bannister, C M; Ward, G S

    1992-12-01

    Integrating children with disabilities into mainstream schools has been an active policy in Britain since the 1981 Education Act. 26 children with spina bifida, 13 of whom were educated in mainstream schools, and 13 in special schools were assessed to clarify the relative importance of the following factors 1) IQ, 2) Mobility, 3) Hand function, 4) Bladder and bowel function, and 5) Behaviour. A marked difference was found between those attending mainstream and special schools. 11/13 of the former attained scores within the normal range as compared to only 2/13 of the latter. Neither mobility nor hand function alone were found to influence school placement and a marked correlation was found between the two. Whilst those educated in special schools had more marked problems, all children functioned poorly compared with the norms for able-bodied peers. Neither bladder nor bowel incontinence hindered attendance at mainstream school, but faecal soiling was considered the more serious problem. The frequency of behavioural problems showed a similar distribution amongst the two groups. Comments from parents highlighted their reservations about both special and mainstream schooling which indicates the policy for integration needs considerably more commitment from Government and Education Authorities in order to succeed.

  17. Quantity, Not Frequency, Predicts Bother with Urinary Incontinence and its Impact on Quality of Life in Adults with Spina Bifida.

    Science.gov (United States)

    Szymanski, Konrad M; Misseri, Rosalia; Whittam, Benjamin; Kaefer, Martin; Rink, Richard C; Cain, Mark P

    2016-04-01

    The effects of urinary incontinence on health related quality of life in adults with spina bifida is poorly understood. We determined which quantification method best captures bother with urinary incontinence. We also quantified the impact of urinary incontinence on health related quality of life. We surveyed an international sample of adults with spina bifida online from January 2013 through September 2014. We evaluated dry intervals (4 hours or greater considered social continence), quantity of urinary incontinence (a lot, medium, little, none) and number of undergarments worn daily (pads, pull-ups or disposable underwear). A 5-point Likert bother scale was used. We applied validated instruments, including QUALAS-A (Quality of Life Assessment in Spina Bifida for Adults) and the generic WHOQOL-BREF (WHO Quality of Life). We analyzed data using linear regression with a range of 0 to 100 for all outcomes. Mean age of the 461 participants was 32 years and 31.0% were male. Overall 26.5% and 51.8% of participants were dry for less than 4 hours and 4 hours or greater, respectively, while 21.7% were always dry. On multivariate analysis worse bother was predominantly determined by the quantity of urinary incontinence (a lot 32.9 and medium 16.2 vs little, p incontinence (a lot -31.2, medium -23.0 and little -17.2 vs none, p incontinence was the main predictor of lower WHOQOL-BREF scores. We report that adults with spina bifida and urinary incontinence have lower health related quality of life than those who are dry. Self-reported quantity of urinary incontinence was the best predictor of bother and health related quality of life. Copyright © 2016 American Urological Association Education and Research, Inc. Published by Elsevier Inc. All rights reserved.

  18. Biparietal diameter at 11-13 weeks' gestation in fetuses with open spina bifida.

    Science.gov (United States)

    Khalil, A; Coates, A; Papageorghiou, A; Bhide, A; Thilaganathan, B

    2013-10-01

    To ascertain the reported association between reduced biparietal diameter (BPD) at 11-13 weeks' gestation and open spina bifida and to investigate its predictive value in a single-center study. This was a retrospective study of fetuses in which BPD was measured at 11-13 weeks' gestation, including 27 fetuses with isolated open spina bifida subsequently diagnosed at 16-24 weeks and 7775 unaffected controls. BPD values were converted into multiples of the expected median (MoM) after adjustment for crown-rump length and maternal characteristics. Multivariable logistic regression analysis was used to determine the maternal characteristics significantly associated with spina bifida. The performance of screening was determined by receiver-operating characteristics curve analysis. BPD values at 11-13 weeks' gestation were compared with those measured in the second trimester using Z-scores. BPD values at 11-13 weeks' gestation were below the 5(th) centile in 44.4% of cases of open spina bifida. In these fetuses, the median BPD MoM value was significantly smaller than that in the control group (0.930 vs 0.998 MoM; P spina bifida. The detection rate using BPD measurements in the first trimester was 55.6% with a false-positive rate of 11.6%. In fetuses with open spina bifida, the BPD Z-scores were significantly lower at 16-24 weeks compared to those recorded at 11-13 weeks (median, -1.71 (range, -3.98 to -0.20) vs -1.30 (-3.75 to 2.61); P = 0.006). Fetuses with open spina bifida have a smaller BPD in the first trimester. This observation may be useful in early screening. It is likely that a combination of maternal characteristics such as age and BMI, fetal BPD and maternal serum alpha-fetoprotein measured in the first trimester would provide a clinically useful screening test for open spina bifida. Copyright © 2013 ISUOG. Published by John Wiley & Sons Ltd.

  19. Computed tomography in the evaluation and management of patients with spina bifida

    Energy Technology Data Exchange (ETDEWEB)

    Hammock, M.K.; Milhorat, T.H.; Brallier, D.R.

    1981-12-01

    Computed tomography (CT) has fundamentally altered our approach to the initial evaluation and follow-up of patients with spina bifida. This safe and simple, non-invasive diagnostic technique has doubtlessly encouraged earlier diagnosis of clinically significant problems associated with spina bifida and has greatly facilitated the day-to-day management of those patients with documented disorders. CT is now effectively employed as a screening measure for both intraspinal and intracranial problems and can be relied upon to objectively guide and monitor elected modes of therapy.

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

    Science.gov (United States)

    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.

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

    Science.gov (United States)

    Wynd, Andrew HD; Carachi, Robert

    2014-01-01

    Background and Aims 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. Methods and Results 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. Conclusion 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. PMID:25358489

  2. Preliminary study of novel, timed walking tests for children with spina bifida or cerebral palsy.

    Science.gov (United States)

    Kane, Kyra J; Lanovaz, Joel; Bisaro, Derek; Oates, Alison; Musselman, Kristin E

    2016-01-01

    Walking assessment is an important aspect of rehabilitation practice; yet, clinicians have few psychometrically sound options for evaluating walking in highly ambulatory children. The purpose of this study was to evaluate the validity and reliability of two new measures of walking function-the Obstacles and Curb tests-relative to the 10-Meter Walk test and Timed Up and Go test in children with spina bifida or cerebral palsy. A total of 16 ambulatory children with spina bifida (n=9) or cerebral palsy (n=7) (9 boys; mean age 7years, 7months; standard deviation 3years, 4months) and 16 age- and gender-matched typically developing children participated. Children completed the walking tests, at both self-selected and fast speeds, twice. To evaluate discriminative validity, scores were compared between typically developing and spina bifida/cerebral palsy groups. Within the spina bifida/cerebral palsy group, inter-test correlations evaluated convergent validity and intraclass correlation coefficients evaluated within-session test-retest reliability. At fast speeds, all tests showed discriminative validity (pspina bifida/cerebral palsy comparisons) and convergent validity (rho=0.81-0.90, p⩽0.001, for inter-test correlations). At self-selected speeds, only the Obstacles test discriminated between groups (p=0.001). Moderately strong correlations (rho=0.73-0.78, p⩽0.001) were seen between the 10-Meter Walk test, Curb test, and Timed Up and Go test. Intraclass correlation coefficients ranged from 0.81 to 0.97, with higher test-retest reliability for tests performed at fast speeds rather than self-selected speeds. The Obstacles and Curb tests are promising measures for assessing walking in this population. Performing tests at fast walking speeds may improve their validity and test-retest reliability for children with spina bifida/cerebral palsy.

  3. Natural History of Spina Bifida Cystica and Cranium Bifidum Cysticum

    Science.gov (United States)

    Laurence, K. M.; Tew, B. J.

    1971-01-01

    The 425 cases of spina bifida cystica and cranium bifidum cysticum born in a population of 850,000 between 1956 and 1962 (with an incidence of 4·12 per 1000 births) were followed. Most did not receive the modern treatment for the condition. Follow-up in 1968 showed that 25% were stillborn, 13% died during the first week of perinatal causes, a further 47% died mostly of the complications of the condition, and 15% are still alive. Life table survival figures suggest for the liveborns a 12·8% life expectancy to the 11th birthday. The series included 18 cases of meningocele (4·2% of the total), diagnosed largely by exclusion; all are surviving and are largely free from physical and mental handicap. 26 cases of encephalocele include 8 survivors who are all retarded but not much crippled. Of the 381 myeloceles, 37 survive who though not much affected mentally are severely handicapped physically with limb paralysis and incontinence, the pattern of which was largely determined by the level of the lesion. There is a close relation between degree of hydrocephalus and severity of mental retardation. Boys surviving show better performance than girls. The incontinent, whether treated or untreated, show no more emotional disturbance than the continent. This series provides a `baseline' allowing modern and surgical treatment to be evaluated. 60% of the total (or 85% of those liveborn) should be regarded as potentially salvageable. Nearly all cases should probably have the `open' lesion closed as a surgical emergency, but thereafter no further procedure should be undertaken on those with severe hydrocephalus, established renal damage, persistent intracranial infection, or severe kyphosis, or if other severe malformations are present. PMID:4930541

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

    Science.gov (United States)

    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

  5. 4. Managing Children with Spina Bifida in sub-Saharan Africa

    African Journals Online (AJOL)

    Esem

    taboos, religious beliefs, paucity of medical power. 1-5 and inadequate facilities . Spina bifida is considered ... and the outcome instrument measures used in measuring the impact of rehabilitation in children with SB in .... limited to support the assertion that folate deficiency. 27 is common in Zambia . The results of the study.

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

    Science.gov (United States)

    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 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.

  7. VISUAL ASSESSMENT OF SEGMENTAL MUSCLE ULTRASOUND IMAGES IN SPINA BIFIDA APERTA

    NARCIS (Netherlands)

    Brandsma, Rick; Verbeek, Renate J; Maurits, Natasha M; Hamminga, Janneke T; Brouwer, Oebele F; van der Hoeven, Johannes H; Burger, Huibert; Sival, Deborah A

    In spina bifida aperta (SBA), spinal MRI provides a surrogate marker to estimate muscle damage caudal to the myelomeningocele (MMC). This muscle damage by the MMC can be quantified by intra-individual comparison of muscle ultrasound density (MUD) caudal versus cranial to the MMC (dMUD 5

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

    NARCIS (Netherlands)

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

    2006-01-01

    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

  9. Physical fitness and physical behavior in (wheelchair-using) youth with spina bifida

    NARCIS (Netherlands)

    Bloemen, M.A.T.

    2017-01-01

    Associations between low physical fitness, unfavorable physical behavior and higher cardiovascular and overall mortality are well known. Children with a physical disability like spina bifida (SB) are at high risk of decreased levels of physical fitness and unfavorable physical behavior. They seem to

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

    Science.gov (United States)

    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.

  11. Muscle strength, aerobic capacity and physical activity in independent ambulating children with lumbosacral spina bifida

    NARCIS (Netherlands)

    P.J.M. Helders; T. Takken; J.F. de Groot; J.L.M. Hilleart; M.A.G.C. Schoenmakers; J.W. Gorter

    2009-01-01

    Purpose. This cross-sectional study investigates deficits and associations in muscle strength, 6-minute walking distance (6MWD), aerobic capacity (VO2peak), and physical activity (PA) in independent ambulatory children with lumbosacral spina bifida. Method. Twenty-tree children participated (13

  12. Spinal hemorrhages are associated with early neonatal motor function loss in human spina bifida aperta

    NARCIS (Netherlands)

    Sival, Deborah; Verbeek, R. J.; Brouwer, O. F.; Sollie, K. M.; Bos, A. F.; den Dunnen, W. F. A.

    Background: In spina bifida aperta (SBA), leg movements caudal to the meningomyelocele are present in utero, but they disappear shortly after birth. It is unclear whether leg movements disappear by impact of the neuro-developmental malformation or by superimposed traumatic damage. If superimposed

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

    NARCIS (Netherlands)

    Barf, H.A.; Verhoef, M.; Post, M.; Jennekens, A.; Gooskens, R.H.; Mullaart, R.A.; Prevo, A.J.

    2004-01-01

    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

  14. Home screening for bacteriuria in children with spina bifida and clean intermittent catheterization.

    Science.gov (United States)

    Zegers, Bas S H J; Uiterwaal, Cuno C S P M; Verpoorten, Carla C; Christiaens, Myleen M H; Kimpen, Jan J L L; de Jong-de Vos van Steenwijk, Catharine C C E; van Gool, Jan J D

    2012-10-20

    Significant bacteriuria (SBU) and urinary tract infections (UTIs) are common in patients with spina bifida and neuropathic detrusor sphincter dysfunction. Laboratory agar plated culture is the gold standard to establish SBU. It has the disadvantage of diagnostic and subsequent therapeutic delay. Leukocyte esterase tests (LETs) and dip slides proved to be useful in the general populations to exclude SBU and UTI. The aim of this study was to evaluate the reliability of LET and dip slide in children with spina bifida without symptoms of UTI. The reliability in children with asymptomatic SBU was not studied before. In one hundred and twelve children with spina bifida on clean intermittent catheterization LETs and dip slides were compared with laboratory cultures. Both tests and agar plated cultures were performed on catheterized urine samples. The hypothesis was that the home tests are as accurate as laboratory cultures. A SBU was found in 45 (40%) of the 112 laboratory cultures. A negative LET excluded SBU (negative predictive value 96%), while a positive LET had a positive predictive value of 72%. The false positive rate was 28%. Dip slide determination of bacterial growth had no added value, other than serving as transport medium. In spina bifida children, leukocyte esterase testing can be used to exclude significant bacteriuria at home, while dip slide tests have no added value to diagnose or exclude significant bacteriuria.

  15. Marjolin's Ulcer in a Spina Bifida Patient: A Case Report | Nthumba ...

    African Journals Online (AJOL)

    'They dress the wound of my people as though it were not serious' Jeremiah 6:14. Pressure ulcers are a frequent complication among neurologically-impaired patients, including those with spina bifida. Malignant degeneration of these pressure ulcers, known as Marjolin's ulcers, although a rare complication, results in a ...

  16. Work participation among young adults with spina bifida in the Netherlands

    NARCIS (Netherlands)

    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

  17. Spina bifida and genetic factors related to myo-inositol, glucose, and zinc.

    NARCIS (Netherlands)

    Groenen, P.; Klootwijk, E.D.; Schijvenaars, M.M.V.A.P.; Straatman, H.M.P.M.; Mariman, E.C.M.; Franke, B.; Steegers-Theunissen, R.P.M.

    2004-01-01

    BACKGROUND: Myo-inositol, glucose and zinc and related genetic factors are suggested to be implicated in the etiology of spina bifida. We investigated the biochemical concentrations of these nutrients and polymorphisms in the myo-inositol transporter SLC5A11, myo-inositol synthase ISYNA1, and zinc

  18. The results of Grice Green subtalar arthrodesis of valgus foot in spina bifida

    Directory of Open Access Journals (Sweden)

    Fatih Küçükdurmaz

    2012-01-01

    Full Text Available Background: Valgus foot is a common foot deformity in spina bifida. The most popular operation for the valgus deformity has been the Grice talocalcaneal blocking. It has not been studied primarily in children with spina bifida. We report a prospective series, we present the results of hind foot valgus deformity of children with spina bifida, using Grice talocalcaneal arthrodesis with a tricortical iliac bone graft. Materials and Methods: Between May 2000 and December 2003, 21 patients with bilateral (42 feet valgus deformity of feet underwent surgery. There were 7 males and 14 females. The mean age of patients was 67.7 months (range 50-108 months. Results: The total number of feet that had nonunion was 11, in 7 of them the grafts were completely reabsorbed and the outcome of all these feet was unsatisfactory. Four feet had partial union of which three had unsatisfactory and one had satisfactory outcome. Sixteen feet had residual valgus deformity at the last followup visit, 10 patients had nonunion, and 6 had inadequate correction. Mean preoperative talocalcaneal and calcaneal pitch angles were 48.5΀ and 31.9΀, respectively, which decreased to 38.5΀ and 29.1΀, respectively, postoperatively. The decrease in talocalcaneal angle and calcaneal pitch was significant between preoperative and postoperative measurements (P<0.05. Conclusion: Grice subtalar arthrodesis technique is still a valuable option for valgus foot in patients with spina bifida. In this study, we found more encouraging results in older patients.

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

    Science.gov (United States)

    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…

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

    Science.gov (United States)

    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…

  1. Orofacial clefts and spina bifida: N-acetyltransferase phenotype, maternal smoking, and medication use.

    NARCIS (Netherlands)

    Rooij, I.A.L.M. van; Groenen, P.; Drongelen, M. van; Morsche, R.H.M. te; Peters, W.H.M.; Steegers-Theunissen, R.P.M.

    2002-01-01

    BACKGROUND: Orofacial clefts and spina bifida are midline defects with a multifactorial etiology. Maternal smoking and medication use periconceptionally have been studied as risk factors for these malformations. The biotransformation enzyme N-acetyltransferase 2 (NAT2), plays a part in the

  2. Anomalous Development of Brain Structure and Function in Spina Bifida Myelomeningocele

    Science.gov (United States)

    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…

  3. An Inframe Trinucleotide Deletion in MTRR Exon 1 is Associated with the Risk of Spina Bifida.

    Science.gov (United States)

    Zhang, Jun; Dai, Xiao-Lu; Liu, Gui-Cen; Wang, Juan; Ren, Xue-Yi; Jin, Mu-Hua; Mi, Nan-Nan; Wang, Shu-Qin

    2017-09-01

    Maternal genetic variants of enzymes in folate-homocysteine metabolic network are significantly correlative with the risk of spina bifida. To survey the genetic causality, the genotypes of three women having spina bifida fetuses from two unrelated Chinese families were screened in candidate alleles. Polymerase chain reaction, capillary electrophoresis and Sanger sequencing were employed to recognize the allelic variation. A trinucleotide deletion (c.4_6delAGG) was identified in the first exon of MTRR. All the three women showed the novel clinical variation including one heterozygous and two homozygous. The siblings who had healthy babies from the same families did not harbor the variation. In the unaffected control individuals, the variant was also not observed. Eukaryotic expression and bioinformatics techniques were utilized to explore the molecular pathogenesis of the potential genetic risk of developing spina bifida. Exceptionally, the functional examination revealed that the Arg2del variant kept subcellular localization unaltered with catalytic activity intact, but failed to efficiently activate MTR compared with the wild type. Genetic disorder of folate and homocysteine metabolism during pregnancy is believed to be associated with folate-sensitive neural tube defects. The report highlights that the inframe deletion in MTRR exon 1 could be a high risk factor susceptibility to spina bifida.

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

    Science.gov (United States)

    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…

  5. Health Risk Behaviors in Spina Bifida: The Need for Clinical and Policy Action

    Science.gov (United States)

    Sawin, Kathleen J.; Brei, Timothy J.

    2012-01-01

    Health risk behaviors (HRBs) in adults with spina bifida such as poor diet, reduced physical activity, increased television viewing time, and substance abuse often have their genesis in early childhood. They are potentially preventable but if not addressed aggressively may continue to progress across the lifespan. Findings from a population-based…

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

    Science.gov (United States)

    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.

  7. A Pregnant Woman with Spina Bifida: Need for a Multidisciplinary Labor Plan

    Directory of Open Access Journals (Sweden)

    Mary Angela O’Neal

    2017-10-01

    Full Text Available Women with spina bifida present both obstetrical and anesthesia challenges. They are more likely to require a caesarian delivery and traditionally neuraxial anesthesia has been avoided due to concerns of worsening neurologic disability. The case of a pregnant woman with a history of a surgically corrected lipomeningocele and tethered cord is presented to illustrate the need for a comprehensive labor plan.

  8. Evaluation of spina bifida transitional care practices in the United States.

    Science.gov (United States)

    Kelly, Maryellen S; Thibadeau, Judy; Struwe, Sara; Ramen, Lisa; Ouyang, Lijing; Routh, Jonathan

    2017-12-11

    Recent studies have revealed that the lack of continuity in preparing patients with spina bifida to transition into adult-centered care may have detrimental health consequences. We sought to describe current practices of transitional care services offered at spina bifida clinics in the US. Survey design followed the validated transitional care survey by the National Cystic Fibrosis center. Survey was amended for spina bifida. Face validity was completed. Survey was distributed to registered clinics via the Spina Bifida Association. Results were analyzed via descriptive means. Total of 34 clinics responded. Over 90 characteristics were analyzed per clinic. The concept of transition is discussed with most patients. Most clinics discuss mobility, bowel and bladder management, weight, and education plans consistently. Most do not routinely evaluate their process or discuss insurance coverage changes with patients. Only 30% communicate with the adult providers. Sexuality, pregnancy and reproductive issues are not readily discussed in most clinics. Overall clinics self-rate themselves as a 5/10 in their ability to provide services for their patients during transition. Characteristics of current transitional care services and formal transitional care programs at US clinics show wide variances in what is offered to patients and families.

  9. The Effects of Cognitive Strategy Instruction on the Mathematical Problem Solving of Adolescents with Spina Bifida

    Science.gov (United States)

    Coughlin, Judy; Montague, Marjorie

    2011-01-01

    This study investigated the effects of cognitive strategy instruction on the mathematical problem solving of three adolescents with spina bifida. Conditions of the multiple-baseline across-individuals design included baseline, two levels of treatment, posttesting, and maintenance. Treatment 1 focused on one-step math problems, and Treatment 2…

  10. Spina bifida: implications for cognitive functioning, disability and health in young adults

    NARCIS (Netherlands)

    Barf, H.A.

    2008-01-01

    Spina bifida is a developmental birth defect involving the neural tube. It can result in a variety of problems, amongst them incontinence, restrictions of mobility and restrictions of cognitive functioning, depending on the severity of the defect. Due to improvements in medical care, the life

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

    Science.gov (United States)

    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…

  12. Home screening for bacteriuria in children with spina bifida and clean intermittent catheterization

    Directory of Open Access Journals (Sweden)

    Zegers Bas SHJ

    2012-10-01

    Full Text Available Abstract Background Significant bacteriuria (SBU and urinary tract infections (UTIs are common in patients with spina bifida and neuropathic detrusor sphincter dysfunction. Laboratory agar plated culture is the gold standard to establish SBU. It has the disadvantage of diagnostic and subsequent therapeutic delay. Leukocyte esterase tests (LETs and dip slides proved to be useful in the general populations to exclude SBU and UTI. The aim of this study was to evaluate the reliability of LET and dip slide in children with spina bifida without symptoms of UTI. The reliability in children with asymptomatic SBU was not studied before. Methods In one hundred and twelve children with spina bifida on clean intermittent catheterization LETs and dip slides were compared with laboratory cultures. Both tests and agar plated cultures were performed on catheterized urine samples. The hypothesis was that the home tests are as accurate as laboratory cultures. Results A SBU was found in 45 (40% of the 112 laboratory cultures. A negative LET excluded SBU (negative predictive value 96%, while a positive LET had a positive predictive value of 72%. The false positive rate was 28%. Dip slide determination of bacterial growth had no added value, other than serving as transport medium. Conclusions In spina bifida children, leukocyte esterase testing can be used to exclude significant bacteriuria at home, while dip slide tests have no added value to diagnose or exclude significant bacteriuria.

  13. Parents' psychological adjustment in families of children with spina bifida: A meta-analysis

    NARCIS (Netherlands)

    Vermaes, I.P.R.; Janssens, J.M.A.M.; Bosman, A.M.T.; Gerris, J.R.M.

    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.

  14. Parents' psychological adjustment in families of children with Spina Bifida: A meta-analysis

    NARCIS (Netherlands)

    Vermaes, I.P.R.; Janssens, J.M.A.M.; Bosman, A.M.T.; Gerris, J.R.M.

    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.

  15. Sonic Hedgehog Signaling Affected by Promoter Hypermethylation Induces Aberrant Gli2 Expression in Spina Bifida.

    Science.gov (United States)

    Lu, Xiao-Lin; Wang, Li; Chang, Shao-Yan; Shangguan, Shao-Fang; Wang, Zhen; Wu, Li-Hua; Zou, Ji-Zhen; Xiao, Ping; Li, Rui; Bao, Yi-Hua; Qiu, Z-Y; Zhang, Ting

    2016-10-01

    GLI2 is a key mediator of the sonic hedgehog (Shh) signaling pathway and plays an important role in neural tube development during vertebrate embryogenesis; however, the role of gli2 in human folate-related neural tube defects remains unclear. In this study, we compared methylation status and polymorphisms of gli2 between spina bifida patients and a control group to explore the underlying mechanisms related to folate deficiency in spina bifida. No single nucleotide polymorphism was found to be significantly different between the two groups, although gli2 methylation levels were significantly increased in spina bifida samples, accompanied by aberrant GLI2 expression. Moreover, a prominent negative correlation was found between the folate level in brain tissue and the gli2 methylation status (r = -0.41, P = 0.014), and gli2 hypermethylation increased the risk of spina bifida with an odds ratio of 12.45 (95 % confidence interval: 2.71-57.22, P = 0.001). In addition, we established a cell model to illustrate the effect of gli2 expression and the accessibility of chromatin affected by methylation. High gli2 and gli1 mRNA expression was detected in 5-Aza-treated cells, while gli2 hypermethylation resulted in chromatin inaccessibility and a reduced association with nuclear proteins containing transcriptional factors. More meaningful to the pathway, the effect gene of the Shh pathway, gli1, was found to have a reduced level of expression along with a decreased expression of gli2 in our cell model. Aberrant high methylation resulted in the low expression of gli2 in spina bifida, which was affected by the change in chromatin status and the capacity of transcription factor binding.

  16. Awareness of folic acid use increases its consumption, and reduces the risk of spina bifida.

    Science.gov (United States)

    Kondo, Atsuo; Morota, Nobuhito; Date, Hiroaki; Yoshifuji, Kazuhisa; Morishima, Toshibumi; Miyazato, Minoru; Shirane, Reizo; Sakai, Hideki; Pooh, Kyong Hon; Watanabe, Tomoyuki

    2015-07-14

    The majority of neural tube defects were believed to be folic acid (FA)-preventable in the 1990s. The Japanese government recommended women planning pregnancy to take FA supplements of 400 μg/d in 2000, but the incidence of spina bifida has not decreased. We aimed to evaluate the OR of having an infant with spina bifida for women who periconceptionally took FA supplements and the association between an increase in supplement use and possible promoters for the increase. This is a case-control study which used 360 case women who gave birth to newborns afflicted with spina bifida, and 2333 control women who gave birth to healthy newborns during the first 12 years of this century. They were divided into two 6-year periods; from 2001 to 2006 and from 2007 to 2012. Logistic regression analyses were conducted to compute OR between cases and controls. The adjusted OR of having an infant with spina bifida for supplement users was 0.48 in the first period, and 0.53 in the second period. The proportion of women who periconceptionally consumed supplements significantly increased from 10 % in the first period to 30 % in the second period. Awareness of the preventive role of FA was a promoter for an increase in supplement use, and thus an FA campaign in high school seems rational and effective. The failure of the current public health policy is responsible for an epidemic of spina bifida. Mandatory food fortification with FA is urgent and long overdue in Japan.

  17. Sexuality and Relationships in Young People With Spina Bifida and Their Partners.

    Science.gov (United States)

    Heller, Mariel Kupfert; Gambino, Sara; Church, Paige; Lindsay, Sally; Kaufman, Miriam; McPherson, Amy C

    2016-08-01

    Research focusing on sexuality in those living with disabilities, such as spina bifida (SB), has not specifically addressed adolescents and has been largely quantitative in design. Our study qualitatively explored how young people with SB think about and discuss sexuality with their sexual and romantic partners in the context of their disability. Participants aged 16-25 years were recruited using purposive sampling from a large urban pediatric rehabilitation center in Toronto, Canada, as well as through a large Spina Bifida and Hydrocephalus Association. Semistructured interviews were conducted in person or by telephone. Inductive coding and descriptive thematic analysis were conducted on verbatim transcripts. There were mixed views on the importance of disclosing their condition to partners. While some participants strongly believed that their disability was important to share with partners, others worried that potential partners would focus on the disability rather than the person. Participants reported challenges about the timing of disclosure, lack of confidence in their abilities to express their sexual needs, and fears of rejection. After disclosure, however, participants often experienced increased confidence in themselves and their relationships. Participants identified a lack of SB-specific sexual education and a desire to learn more from their health care providers. The findings underscore the importance of empowering young people to become more confident talking about their disability, especially in the context of sexual and romantic relationships. Being able to discuss their abilities, needs and desires could potentially facilitate the development of healthy relationships during their transition to adulthood. Copyright © 2016 Society for Adolescent Health and Medicine. Published by Elsevier Inc. All rights reserved.

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

    OpenAIRE

    Bloemen, M.A.T.; Groot, J.F. de; Backx, F.J.G.; Westerveld, R.A.; Takken, T.

    2015-01-01

    Objective: 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. Design: Validity and reliability study. Subjects: Young people with spina bifida who use a wheelchair. Methods: Physiological responses were measured during a Graded Arm Cranking Test and a Graded Wheelchair Propulsion Test using a heart rate monitor a...

  19. Comparison of Health-Related Quality of Life in Mothers of Children with Spina Bifida and Cerebral Palsy

    Directory of Open Access Journals (Sweden)

    Hamid Dalvand

    2017-09-01

    Full Text Available Background Spina bifida (SB is the most common abnormalities in neural tube defects in Iran. The aim of this study was to assess health-related quality of life in mothers of children with spina bifida and to compare their quality of life with mothers of children with cerebral palsy (CP. Materials and Methods Two-hundred and three mothers were recruited using the convenience sampling strategy in a cross-sectional study. Quality of life (QOL in mothers was assessed using a validated Persian version of 36-item Short Form Health Survey questionnaire according to the different levels of Hoffer criteria and types of Spina Bifida of their children. Also, the quality of life of mothers in this study was compared with data on Iranian healthy women and Iranian mothers of children with cerebral palsy. Results This study showed that the Sf-36 scores were significantly different between mothers having Spina Bifida children of different levels of Hoffer criteria and Spina Bifida types in terms of mean of physical component summary and mental component summary scores of SF-36 (P0.05. Conclusion This study indicated that mothers of children with Spina Bifida suffer from poor quality of life similar to mothers of children with cerebral palsy, and should create supportive strategies for the physical and psychological aspects of their quality of life.

  20. The adverse influence of spina bifida occulta on the medical treatment outcome of primary monosymptomatic nocturnal enuresis.

    Science.gov (United States)

    Cakiroglu, Basri; Tas, Tuncay; Eyyupoglu, Seyit Erkan; Hazar, Aydın Ismet; Can Balcı, Mustafa Bahadır; Nas, Yunus; Yilmazer, Fazli; Aksoy, Suleyman Hilmi

    2014-12-30

    Previous reports have suggested that the incidence of spina bifida occulta (SBO) in patients with primary monosymptomatic nocturnal enuresis (PMNE) is higher than the general population. The purpose of this study was to investigate the effect of spina bifida occulta on the medical treatment outcome of PMNE. Between January 2008 and December 2011, a total of 223 children (151 boys and 72 girls, aged 6-16 years; mean age: 10.1 ± 3.04 years) with PMNE were reviewed retrospectively. All of the children underwent physical examination, urine analysis, urinary tract ultrasonography and kidney ureter bladder (KUB) scout film. All patients were initially treated with a timed voiding program and were given desmopressin acetate when necessary. Spina bifida occulta was detected in 75 children (33.6%). Spina bifida occulta affected L4 in 2 children, L5 in 6 children, L4-L5 in 3 children, S1 in 52 children, S2 in 7 children and S1-S2 in 2 children. Treatment was successful in 79% of the children without SBO, and in only 48% of the children with SBO. Medical treatment success rates differed significantly between the study groups. The presence of spina bifida occulta significantly affects the response to medical treatment in patients with PMNE. Thus, verifying spina bifida occulta status in PMNE can facilitate prognostic predictions about the response to medical treatment.

  1. The adverse influence of spina bifida occulta on the medical treatment outcome of primary monosymptomatic nocturnal enuresis

    Directory of Open Access Journals (Sweden)

    Basri Cakiroglu

    2014-12-01

    Full Text Available Objective: Previous reports have suggested that the incidence of spina bifida occulta (SBO in patients with primary monosymptomatic nocturnal enuresis (PMNE is higher than the general population. The purpose of this study was to investigate the effect of spina bifida occulta on the medical treatment outcome of PMNE. Material and Methods: Between January 2008 and December 2011, a total of 223 children (151 boys and 72 girls, aged 6-16 years; mean age: 10.1 ± 3.04 years with PMNE were reviewed retrospectively. All of the children underwent physical examination, urine analysis, urinary tract ultrasonography and kidney ureter bladder (KUB scout film. All patients were initially treated with a timed voiding program and were given desmopressin acetate when necessary. Results: Spina bifida occulta was detected in 75 children (33.6%. Spina bifida occulta affected L4 in 2 children, L5 in 6 children, L4-L5 in 3 children, S1 in 52 children, S2 in 7 children and S1-S2 in 2 children. Treatment was successful in 79% of the children without SBO, and in only 48% of the children with SBO. Medical treatment success rates differed significantly between the study groups. Conclusion: The presence of spina bifida occulta significantly affects the response to medical treatment in patients with PMNE. Thus, verifying spina bifida occulta status in PMNE can facilitate prognostic predictions about the response to medical treatment.

  2. An approach for determining quantitative measures for bone volume and bone mass in the pediatric spina bifida population.

    Science.gov (United States)

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

    2015-08-01

    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. 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. 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). 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. Copyright © 2015 Elsevier Ltd. All rights reserved.

  3. All Incontinence is Not Created Equal: Impact of Urinary and Fecal Incontinence on Quality of Life in Adults with Spina Bifida.

    Science.gov (United States)

    Szymanski, Konrad M; Cain, Mark P; Whittam, Benjamin; Kaefer, Martin; Rink, Richard C; Misseri, Rosalia

    2017-03-01

    We previously reported that the self-reported amount of urinary incontinence is the main predictor of lower health related quality of life in adults with spina bifida. In this study we sought to determine the impact of fecal incontinence on health related quality of life after correcting for urinary incontinence. An international sample of adults with spina bifida was surveyed online in 2013 to 2014. We evaluated fecal incontinence in the last 4 weeks using clean intervals (less than 1 day, 1 to 6 days, 1 week or longer, or no fecal incontinence), amount (a lot, medium, a little or none), number of protective undergarments worn daily and similar variables for urinary incontinence. Validated instruments were used, including QUALAS-A (Quality of Life Assessment in Spina bifida for Adults) for spina bifida specific health related quality of life and the generic WHOQOL-BREF (WHO Quality of Life, short form). Linear regression was used (all outcomes 0 to 100). Mean age of the 518 participants was 32 years and 33.0% were male. Overall, 55.4% of participants had fecal incontinence, 76.3% had urinary incontinence and 46.9% had both types. On multivariate analysis fecal incontinence was associated with lower bowel and bladder health related quality of life across all amounts (-16.2 for a lot, -20.9 for medium and -18.5 for little vs none, p spina bifida. Health related quality of life is lower with an increasing amount of urinary incontinence. Fecal incontinence has a more uniform impact on health related quality of life regardless of frequency or amount. Copyright © 2017 American Urological Association Education and Research, Inc. Published by Elsevier Inc. All rights reserved.

  4. Can atlas spina bifida-occulta be a cause of cervicogenic headaches?

    Science.gov (United States)

    Adigo, Amégninou Mawuko Yao; Agoda-Kousséma, Lama Kegdigoma; Agbotsou, Ignéza Komi; Adambounou, Kokou; Bakpatina-Batako, Kpalma Duga; Djagnikpo, Oni; Adjénou, Komlanvi Victor

    2015-01-01

    Cervicogenic headaches are a nosologic entity recently recognized. In our common practice, we have noticed a relative frequency of the atlas spina-bifida occulta during the brain CT scan realized for headaches without cranio-encephalic causes or any other anomaly of the upper cervical region. The aim of this study was to determine a possible connection between cervicogenic headaches (CEH) and atlas spina-bifida occulta. A 2 years prospective and descriptive study in 20 black patients having an atlas spina-bifida occulta diagnosed with a brain CT scan. The mean age of the patients was 43.17 ± 18.35 years (extremes: 24 and 72 years). A light female predominance was noticed (sex-ratio = 1.5). The frequency of symptomatic spina-bifida was 1.72 % (17 cases). The mean age at onset was 31.84 years. The pain was sub-occipital in 14 cases, occipital in 8 cases, bilateral in 12 cases and unilateral in 5 cases. The mean duration of the attacks was 72 ± 24 h and the pain intensity was moderate (16 cases); mean and range were 3.6 and 3-6. The frequency of attacks varied between 1 per 7 months (n = 2) and 2 per week (n = 1) in those with non-daily headache. One attack per 5-7 weeks was the most commonly occurring attack frequency. The pain was reproduced by the pressure of the occipital region or upper cervical in 15 cases. The mean number of criteria was five and there was a strong positive correlation between criteria and CEH (χ (2) = 45.57; V = 0.62). The associated signs were photophobia and nausea in one case each. Indomethacin, Ergotamine and/or Sumatriptan were without any antalgic effect in 16 cases. Pain ceased after an anesthetic blockade of C2 (16 cases). The results show that atlas spina-bifida occulta is not involved in CEH pure form genesis. On a small sample, the atlas spina-bifida seems to be a cause of CEH associated with headache and disorders of the neck.

  5. Physical activity, exercise, and health-related measures of fitness in adults with spina bifida: a review of the literature.

    Science.gov (United States)

    Crytzer, Theresa M; Dicianno, Brad E; Kapoor, Roohi

    2013-12-01

    Spina bifida (SB) is the most common birth defect in United States that results in permanent lifelong disability according to the Spina Bifida Association. Advancements in medical care have led to a longer life span and an increase in the risk of secondary conditions, for example, obesity, with age. The need to maintain a healthy and active lifestyle is even stronger in adults with SB than the general population. Our objective was to fill a gap in the literature by highlighting the current state of the literature on health-related measures of fitness, exercise, and physical activity (PA) in adults with SB. PubMed and Ovid were searched for articles by using the terms "spina bifida or myelomeningocele and exercise," published between January 1, 1988 and May 10, 2012. Results of studies showed that adults with SB had an inactive lifestyle, lower aerobic capacity, decreased level of daily PA, higher prevalence of obesity, and lower health-related quality of life compared with reference groups. Therapeutic interventions reduced pain, increased biomechanical efficiency during wheelchair propulsion, and improved PA and balance. Overall, the quality of the evidence on PA, exercise, and health-related measures of fitness is low in SB. Given misdistribution of adipose tissue, short stature, scoliosis, and joint contractures, future research should be conducted to determine the most reliable and low-cost methods of measuring body composition and to establish norms. Other reference standards, for example, aerobic capacity, require further development. Studies are needed to investigate lifestyle interventions that facilitate PA and exercise, and to determine the amount of exercise required to reduce secondary conditions as people with SB age. Copyright © 2013 American Academy of Physical Medicine and Rehabilitation. Published by Elsevier Inc. All rights reserved.

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

    Science.gov (United States)

    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

  7. A reproductive history of mothers with spina bifida offspring-a new look at old issues

    Directory of Open Access Journals (Sweden)

    Farley Thomas L

    2006-08-01

    Full Text Available Abstract Background Spina bifida is a disorder of the cerebrospinal fluid system associated with failure of neural tube closure in the fetus. Reproductive history studies of mothers with spina bifida offspring have often been conducted shortly after the affected child's birth. In this study, a large group of community-based mothers were studied after most had completed their families. The aims were to present a more comprehensive reproductive history and to test several hypotheses regarding the nature of spina bifida. Methods Data from 271 mothers was collected by interview 18.3 mean years after the affected child's birth. Data analysis was by χ-square, Fisher exact test and t test with a p value less than 0.05 considered significant. Results Females made up 56.5% of affected offspring (probands and 53.1% of unaffected offspring. The spina bifida and anencephaly recurrence rate was 4.0%. The twinning rate was 8.6/1000 live births. 24.4% of mothers had a history of spontaneous abortion and the rate varied by pregnancy order from 87 to 185/1000 live births. Duration of pregnancies subsequent to probands was shorter for female than male probands. Mean birth weight of probands with high lesions exceeded those with low lesions. A spontaneous abortion preceded female probands more often than males as compared to live births. Affected males with high lesions conceived by white mothers were at greater risk to be spontaneously aborted. Previous inter-gestational interval for mothers with no history of spontaneous abortion was longer for probands than unaffected offspring but not for mothers with a history of spontaneous abortion. Conclusion Overall, and for every major subgroup of these mothers, more affected and unaffected female than male offspring were born. Differences by gender and lesion level among probands and between probands and unaffected offspring were consistent with an etiology of unknown genetic factors, hormonal and/or immune system

  8. Applying a knowledge-to-action framework for primary prevention of spina bifida in tropical Africa.

    Science.gov (United States)

    Claude, Kasereka M; Juvenal, Kwibuka L; Hawkes, Michael

    2012-04-01

    Maternal periconceptual folate supplementation reduces the incidence of neural tube defects; however, in settings where population-level food fortification is not available, it is not clear how best to promote this prevention strategy. Guided by a knowledge-to-action methodology, we used mixed quantitative and qualitative methods to define the local disease burden, then designed, implemented and evaluated a culturally tailored educational intervention in eastern Democratic Republic of Congo, where resource limitations and threats to human security contribute to restricted capacity for the prevention and management of congenital malformations. A descriptive case series of 27 patients undergoing surgery for spina bifida demonstrated a short-term mortality of 15% and long-term disability in survivors. A survey of knowledge, attitudes and practices demonstrated a low level of folate awareness (53%) among women of reproductive age. Focus group discussions revealed exotic aetiologic views, significant gender issues and several barriers to folate use. A culturally tailored radio broadcast and an educational video were designed and produced locally based on qualitative and quantitative findings. Evaluation of the video documented high levels of viewer satisfaction and unequivocal knowledge gain (P ≤ 0.001). We conclude that spina bifida poses a significant burden on affected patients and their families in the African context, but folate is underutilized as a prevention strategy. Patient education through video media results in increased awareness and understanding of spina bifida and folate, a first step in empowering women to reduce the risk of spina bifida in their children in the absence of population-wide food fortification. © 2010 Blackwell Publishing Ltd.

  9. A study of the clinical profile and outcome of spina bifida

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    Theophilus Nikita Kumar

    2016-02-01

    Full Text Available Neural tube defects (NTDs are a group of congenital anomalies characterized by defects in dorsal midline structures, including neural tissue, dura, muscle, bone and/or skin. The clinical presentations and the follow-up of these patients requires attention to various end organs besides the nervous system. To evaluate the clinical profile and surgical outcome of children with spina bifida. Out of a total of 74 patients treated at our institute for spina bifida between June 2013 to august 2015, 74 cases of spina bifida were analyzed retrospectively and prospectively. The clinical profile, radiological findings and urodynamic studies were recorded. Craniospinal MRI was done in patients to screen for Arnold Chiari malformations and monitoring of hydrocephalus was done as a management protocol at our institute for these children. All these patients except two underwent surgery for correction and closure of the spinal defect. Associated anomalies were treated accordingly. They were clinically assessed over a mean follow up period of 1.3years, ranging from 2months to 2½ years. 73% of the patients presented in the neonatal age group. Of which, 72% presented with a visible sac over the back.72% of the cases were Myelomeningocoeles. 79% of the defects were in the lumbosacral region.30% presented with sensorimotor loss or bladder bowel incontinence. Sensorimotor improvement was seen in 12.5% after repairing the defect with the help of physiotherapy and braces. 30% of the patients were diagnosed to have hydrocephalus, of which 33% required a CSF diversion procedure. The postoperative course of spina bifida repair was found to be uneventful in 90% of the patients

  10. Orthopedic management of spina bifida. Part I: hip, knee, and rotational deformities

    OpenAIRE

    Swaroop, Vineeta T.; Dias, Luciano

    2009-01-01

    Children with spina bifida develop a wide variety of congenital and acquired orthopedic deformities. Among these are hip deformities such as contracture, subluxation, or dislocation. Patients may also have problems with the knee joint, such as knee flexion or extension contracture, knee valgus deformity, or late knee instability and pain. In addition, rotational deformities of the lower extremities, either internal or external torsion, are common as well. This paper will review both the overa...

  11. Association between CFL1 gene polymorphisms and spina bifida risk in a California population

    Directory of Open Access Journals (Sweden)

    Lammer Edward J

    2007-03-01

    Full Text Available Abstract Background CFL1 encodes human non-muscle cofilin (n-cofilin, which is an actin-depolymerizing factor and is essential in cytokinesis, endocytosis, and in the development of all embryonic tissues. Cfl1 knockout mice exhibit failure of neural tube closure at E10.5 and die in utero. We hypothesized that genetic variation within the human CFL1 gene may alter the protein's function and result in defective actin depolymerizing and cellular activity during neural tube closure. Such alterations may be associated with an increased risk for neural tube defects (NTDs. Methods Having re-sequenced the human CFL1 gene and identified five common single nucleotide polymorphisms (SNPs in our target population, we investigated whether there existed a possible association between the genetic variations of the CFL1 gene and risk of spina bifida. Samples were obtained from a large population-based case-control study in California. Allele association, genotype association and haplotype association were evaluated in two different ethnicity groups, non-Hispanic white and Hispanic white. Results Homozygosity for the minor alleles of the SNPs studied (rs652021, rs665306, rs667555, rs4621 and rs11227332 appeared to produce an increased risk for spina bifida. Subjects with the haplotype composed of all minor alleles (CCGGT appeared to have increased spina bifida risk (OR = 1.6, 95% CI: 0.9~2.9, however, this finding is not statistically significant likely due to limited sample size. Conclusion The sequence variation of human CFL1 gene is a genetic modifier for spina bifida risk in this California population.

  12. Improved Survival Among Children with Spina Bifida in the United States

    Science.gov (United States)

    Shin, Mikyong; Kucik, James E.; Siffel, Csaba; Lu, Chengxing; Shaw, Gary M.; Canfield, Mark A.; Correa, Adolfo

    2015-01-01

    Objective To evaluate trends in survival among children with spina bifida by race/ethnicity and possible prognostic factors in 10 regions of the United States. Study design A retrospective cohort study was conducted of 5165 infants with spina bifida born during 1979-2003, identified by 10 birth defects registries in the United States. Survival probabilities and adjusted hazard ratios were estimated for race/ethnicity and other characteristics using the Cox proportional hazard model. Results During the study period, the 1-year survival probability among infants with spina bifida showed improvements for whites (from 88% to 96%), blacks (from 79% to 88%), and Hispanics (from 88% to 93%). The impact of race/ethnicity on survival varied by birth weight, which was the strongest predictor of survival through age 8. There was little racial/ethnic variation in survival among children born of very low birth weight. Among children born of low birth weight, the increased risk of mortality to Hispanics was approximately 4-6 times that of whites. The black-white disparity was greatest among children born of normal birth weight. Congenital heart defects did not affect the risk of mortality among very low birth weight children but increased the risk of mortality 4-fold among children born of normal birth weight. Conclusions The survival of infants born with spina bifida has improved; however, improvements in survival varied by race/ethnicity, and blacks and Hispanics continued to have poorer survival than whites in the most recent birth cohort from 1998-2002. Further studies are warranted to elucidate possible reasons for the observed differences in survival. PMID:22727874

  13. An artificial somatic-autonomic reflex pathway procedure for bladder control in children with spina bifida.

    Science.gov (United States)

    Xiao, Chuan-Guo; Du, Mao-Xin; Li, Bing; Liu, Zhao; Chen, Ming; Chen, Zhao-Hui; Cheng, Ping; Xue, Xiao-Nan; Shapiro, Ellen; Lepor, Herbert

    2005-06-01

    Neurogenic bladder is a major problem for children with spina bifida. Despite rigorous pharmacological and surgical treatment, incontinence, urinary tract infections and upper tract deterioration remain problematic. We have previously demonstrated the ability to establish surgically a skin-central nervous system-bladder reflex pathway in patients with spinal cord injury with restoration of bladder storage and emptying. We report our experience with this procedure in 20 children with spina bifida. All children with spina bifida and neurogenic bladder underwent limited laminectomy and a lumbar ventral root (VR) to S3 VR microanastomosis. The L5 dorsal root was left intact as the afferent branch of the somatic-autonomic reflex pathway after axonal regeneration. All patients underwent urodynamic evaluation before and after surgery. Preoperative urodynamic studies revealed 2 types of bladder dysfunction- areflexic bladder (14 patients) and hyperreflexic bladder with detrusor external sphincter dyssynergia (6). All children were incontinent. Of the 20 patients 17 gained satisfactory bladder control and continence within 8 to 12 months after VR microanastomosis. Of the 14 patients with areflexic bladder 12 (86%) showed improvement. In these cases bladder capacity increased from 117.28 to 208.71 ml, and mean maximum detrusor pressure increased from 18.35 to 32.57 cm H2O. Five of the 6 patients with hyperreflexic bladder demonstrated improvement, with resolution of incontinence. Urodynamic studies in these cases revealed a change from detrusor hyperreflexia with detrusor external sphincter dyssynergia and high detrusor pressure to nearly normal storage and synergic voiding. In these cases mean bladder capacity increased from 94.33 to 177.83 ml, and post-void residual urine decreased from 70.17 to 23.67 ml. Overall, 3 patients failed to exhibit any improvement. The artificial somatic-autonomic reflex arc procedure is an effective and safe treatment to restore bladder

  14. Retrograde continence enema in children with spina bifida: Not as effective as first thought.

    Science.gov (United States)

    King, Sebastian K; Stathopoulos, Lefteris; Pinnuck, Loreto; Wells, Judy; Hutson, John; Heloury, Yves

    2017-04-01

    The aim of the study is to investigate the effectiveness of Peristeen retrograde continence enema (RCE) in the management of faecal incontinence in children with spina bifida. We identified a homogenous group of spina bifida patients in whom RCE was initiated (Jan 2006-July 2013). Confidential assessments included (i) Fecal Incontinence Quality Of Life (FIQOL), (ii) St Marks Faecal Incontinence score, (iii) Cleveland Clinic Constipation score and (iv) Neurogenic Bowel Dysfunction score. Of 20 patients, 11 (mean age 14.5 ± 5.3 years) were male. Of 20 patients, nine were still using RCE (mean follow-up 4.1 years). Three patients ceased RCE within 10 days, six after 4-12 months and two after 36-48 months. Reasons for cessation included balloon difficulties (n = 4), procedure deemed too difficult (n = 4) and pain (n = 3). There were no differences between the groups in length of training time for technique, instillate fluid/volume used and time taken to perform RCE. There were no differences between the groups for quality of life, faecal incontinence or constipation scores. We demonstrated a high rate of cessation with RCE in patients with spina bifida. This could not be explained by associated conditions, or by enema-related parameters. One possible explanation is the lack of ongoing outpatient support for the children and their families. © 2016 Paediatrics and Child Health Division (The Royal Australasian College of Physicians).

  15. Tethered cord syndrome with spina bifida aperta in cats: two case reports of different types

    Science.gov (United States)

    Tamura, Masahiro; Oji, Takashi; Une, Satoshi; Mukaino, Makiko; Bekki, Tatsuro; Tado, Masaki; Koyama, Hiromi; Kagawa, Yumiko; Kawata, Mutsumi

    2017-01-01

    Case summary Two castrated male cats, aged 8 months old (case 1) and 10 months old (case 2), showed a history of progressive paraparesis, an over-reaching pelvic limb gait, urinary incontinence and a palpable dermoid fistula. In case 1, the fistula was connected to the dural sac on the conus medullaris, and the tethered spinal cord was retracted caudally. In case 2, the tubular structure was connected to the dural sac on the thoracic spinal cord, and the tethered spinal cord was retracted dorsally. Tethered cord syndrome secondary to spina bifida aperta was suspected in both cats. Excision of the fistula and release of the tethered spinal cord was performed. A histopathological examination confirmed the diagnosis of a meningomyelocele in case 1 and a meningocele in case 2. Paraparesis improved postoperatively in both cats. However, urinary incontinence in case 1 remained partially unresolved. Relevance and novel information This is the first report to describe the imaging characteristics, surgical treatments and outcomes of two different types of tethered cord syndrome with spina bifida aperta in cats. Tethered cord syndrome with spina bifida aperta needs to be included in the differential diagnosis of slowly progressive paraparesis in younger cats with or without vesicorectal failure and a palpable dermoid fistula. PMID:28546867

  16. Tethered cord syndrome with spina bifida aperta in cats: two case reports of different types

    Directory of Open Access Journals (Sweden)

    Masahiro Tamura

    2017-05-01

    Full Text Available Case summary Two castrated male cats, aged 8 months old (case 1 and 10 months old (case 2, showed a history of progressive paraparesis, an over-reaching pelvic limb gait, urinary incontinence and a palpable dermoid fistula. In case 1, the fistula was connected to the dural sac on the conus medullaris, and the tethered spinal cord was retracted caudally. In case 2, the tubular structure was connected to the dural sac on the thoracic spinal cord, and the tethered spinal cord was retracted dorsally. Tethered cord syndrome secondary to spina bifida aperta was suspected in both cats. Excision of the fistula and release of the tethered spinal cord was performed. A histopathological examination confirmed the diagnosis of a meningomyelocele in case 1 and a meningocele in case 2. Paraparesis improved postoperatively in both cats. However, urinary incontinence in case 1 remained partially unresolved. Relevance and novel information This is the first report to describe the imaging characteristics, surgical treatments and outcomes of two different types of tethered cord syndrome with spina bifida aperta in cats. Tethered cord syndrome with spina bifida aperta needs to be included in the differential diagnosis of slowly progressive paraparesis in younger cats with or without vesicorectal failure and a palpable dermoid fistula.

  17. A snapshot of the adult spina bifida patient – high incidence of urologic procedures

    Science.gov (United States)

    Liu, Joceline S.; Greiman, Alyssa; Casey, Jessica T.; Mukherjee, Shubhra

    2016-01-01

    Introduction To describe the urologic outcomes of contemporary adult spina bifida patients managed in a multidisciplinary clinic. Material and methods A retrospective chart review of patients seen in our adult spina bifida clinic from January 2004 to November 2011 was performed to identify urologic management, urologic surgeries, and co-morbidities. Results 225 patients were identified (57.8% female, 42.2% male). Current median age was 30 years (IQR 27, 36) with a median age at first visit of 25 years (IQR 22, 30). The majority (70.7%) utilized clean intermittent catheterization, and 111 patients (49.3%) were prescribed anticholinergic medications. 65.8% had urodynamics performed at least once, and 56% obtained appropriate upper tract imaging at least every other year while under our care. 101 patients (44.9%) underwent at least one urologic surgical procedure during their lifetime, with a total of 191 procedures being performed, of which stone procedures (n = 51, 26.7%) were the most common. Other common procedures included continence procedures (n = 35, 18.3%) and augmentation cystoplasty (n = 29, 15.2%). Only 3.6% had a documented diagnosis of chronic kidney disease and 0.9% with end-stage renal disease. Conclusions Most adult spina bifida patient continue on anticholinergic medications and clean intermittent catheterization. A large percentage of patients required urologic procedures in adulthood. Patients should be encouraged to utilize conservative and effective bladder management strategies to reduce their risk of renal compromise. PMID:27123330

  18. Regenerative medicine and spina bifida: Recent developments in induced fetal regeneration.

    Science.gov (United States)

    Fauza, Dario O

    2017-12-11

    Regenerative medicine as it applies to spina bifida is a multi-pronged endeavor involving spinal cord repair, tissue engineering and fetal regeneration, all of which can mutually overlap to variable extents. The efforts involving spinal cord repair, whether they be cell-based or not, are virtually indistinguishable from the enormous body of work related to spinal cord recovery after traumatic injury. Tissue engineering, on the other hand, can involve a variety of structures besides constructs used for covering the spina bifida defect, for example the urinary bladder, bone, muscle and skin. This brief review will not delve into any of these two main areas, which actually can also involve fetal interventions within their respective realms, but rather be devoted to a very recent development making use of the uniquely enhanced ability of the fetus to repair, or regenerate areas of tissue damage, coined transamniotic stem cell therapy, or TRASCET. TRASCET is a still experimental therapeutic paradigm for the treatment of not only spina bifida, but also other birth defects, based on the principle of harnessing/enhancing the normal biological role of a select population of stem cells that naturally occur in the amniotic fluid, specifically amniotic fluid-derived mesenchymal stem cells (afMSCs), for therapeutic benefit.

  19. The Evolution of Spina Bifida Treatment Through a Biomedical Ethics Lens.

    Science.gov (United States)

    Levin-Decanini, Tal; Houtrow, Amy; Katz, Aviva

    2017-09-01

    Spina bifida is a neurodevelopmental disorder that results in a broad range of disability. Over the last few decades, there have been significant advances in diagnosis and treatment of this condition, which have raised concerns regarding how clinicians prognosticate the extent of disability, determine quality of life, and use that information to make treatment recommendations. From the selective treatment of neonates in the 1970s, to the advent of maternal-fetal surgery today, the issues that have been raised surrounding spina bifida intervention invoke principles of medical bioethics such as beneficence and nonmaleficence, while also highlighting how quality of life judgments may drive care decisions. Such changes in treatment norms are also illustrative of how disability is viewed both within the medical community and by society at large. An examination of the changes in spina bifida treatment provides a model through which to understand how ethically complex decisions regarding care for children with disabilities has evolved, and the challenges faced when medical information is combined with value-based judgments to guide medical decision making.

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

    Science.gov (United States)

    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.

  1. Spina Bifida. Ervaringen bij de behandeling en begeleiding. Een inventarisatie van problemen, een analyse van het werken als team en een visie op de begeleiding.

    NARCIS (Netherlands)

    Meihuizen-de Regt, Margaretha Jannie

    1984-01-01

    Deze studie geeft na enkele algemene beschouwingen over spina bifida (hoofdstuk I) de resultaten weer van een onderzoek naar de verschillende somatische en psychosociale problemen die kunnen voorkomen bij patiënten met spina bifida (hoofdstuk II) en een visie op de psychosociale begeleiding van de

  2. Impact of introduction of mid-trimester scan on pregnancy outcome of open spina bifida in The Netherlands.

    Science.gov (United States)

    Fleurke-Rozema, J H; Vogel, T A; Voskamp, B J; Pajkrt, E; van den Berg, P P; Beekhuis, J R; Bilardo, C M; Brouwer, O F; de Walle, H E K; Snijders, R J M

    2014-05-01

    To examine the impact of introduction of the mid-trimester scan on pregnancy outcome in cases of open spina bifida in two regions of The Netherlands. This was a retrospective cohort study of 190 cases of open spina bifida diagnosed pre- or postnatally, with an estimated date of delivery between 2003 and 2011. With implementation of the mid-trimester scan the percentage of cases of open spina bifida detected before the 24(th) week of pregnancy increased from 43% to 88%. The rise in prenatal detection rate was associated with a significant increase in the number of terminated pregnancies and a decrease in the rate of perinatal loss; the percentage of children born alive did not change significantly. In the subgroup that underwent a scan between 18 and 24 weeks of pregnancy, cranial signs were present in 94.4% of cases. Introduction of the mid-trimester scan has led to an increase in early identification of pregnancies complicated by open spina bifida. Pregnancies previously destined to end in perinatal loss are now terminated whilst pregnancies with a relatively good prognosis are frequently continued; the number of children with open spina bifida who are born alive has not changed significantly. Our study confirms that prenatal diagnosis is usually triggered by visualization of a lemon-shaped skull or a banana-shaped cerebellum. Copyright © 2013 ISUOG. Published by John Wiley & Sons Ltd.

  3. Sexual Function and Quality of Life in Young Men With Spina Bifida: Could It Be Neglected Aspects in Clinical Practice?

    Science.gov (United States)

    Choi, Eun Kyoung; Ji, Yoonhye; Han, Sang Won

    2017-10-01

    To evaluate the sexual function of young men with spina bifida and the impact of the disorder on the quality of life (QOL). To assess sexual function and QOL by using self-administered questionnaires (International Index of Erectile Function [IIEF] and 36-Item Short Form Health Survey) for young men with spina bifida. We collected data from 47 young men with spina bifida between June 2013 and October 2013 at the spina bifida clinic of Severance Children's Hospital, Seoul, South Korea. Of the 47 men who completed the IIEF, 24 (51.1%) had sexual intercourse at least once during the previous month, and the patients' sexual activity status had a significant association with their sexual function; however, the status of their sexual activity did not show any differentiation with their QOL scores. Concerning overall satisfaction in sexual activity, about 87% reported more than mild dysfunction; however, 67% and 50% had normal erectile function and orgasmic function, respectively. In 10 patients (41.7%) among them, the frequency of ejaculation problems ranged from "sometimes" to "most of the time" during sexual activity. The correlation between sexual function and QOL had a statistically significant association with the weak correlation (r = 0.496, P = .014). Sexual function should be evaluated routinely in patients with spina bifida because such patients experience sexual dysfunction, although sexual function did not directly show a significant correlation with the QOL in this study. Copyright © 2017. Published by Elsevier Inc.

  4. 'Die verswygde storie': ’n gevallestudie oor die manifestasie van bates by ’n kleuter met spina bifida miëlomeningoseel

    Directory of Open Access Journals (Sweden)

    I. Eloff

    2007-07-01

    Full Text Available 'The unmentioned story': a case study of the manifestation of assets in a toddler with spina bifida miëlomeningoseel In South Africa a few major discourses with regard to disability can be distinguished. Although these discourses construct disability differently, three of them – the lay, charity and medical discourses – tend to view disability negatively. This article endeavours to challenge the stereotypical “picture” of a person with a disability. By conducting an intrinsic case study the unique intrapersonal assets of a boy (who has a physical disability, spina bifida is identified. An asset-based approach accompanied the research design as a theoretical framework in order to explore whether positive aspects of this boy’s life-world could be identified. This article identifies and embraces the positive side of living with a physical disability and illustrates ways in which positive constructions of an individual with disabilities can be pursued.

  5. Correlation between spina bifida manifesta in fetal rats and c-Jun N-terminal kinase signaling★

    Science.gov (United States)

    Ma, Yinghuan; Bao, Yongxin; Li, Chenghao; Jiao, Fubin; Xin, Hongjie; Yuan, Zhengwei

    2012-01-01

    Fetal rat models with neural tube defects were established by injection with retinoic acid at 10 days after conception. The immunofluorescence assay and western blot analysis showed that the number of caspase-3 positive cells in myeloid tissues for spina bifida manifesta was increased. There was also increased phosphorylation of c-Jun N-terminal kinase, a member of the mitogen activated protein kinase family. The c-Jun N-terminal kinase phosphorylation level was positively correlated with caspase-3 expression in myeloid tissues for spina bifida manifesta. Experimental findings indicate that abnormal apoptosis is involved in retinoic acid-induced dominant spina bifida formation in fetal rats, and may be associated with the c-Jun N-terminal kinase signal transduction pathway. PMID:25337099

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

    Science.gov (United States)

    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.

  7. Awareness of spina bifida and periconceptional use of folic acid among pregnant women in a developing economy.

    Science.gov (United States)

    Rabiu, T B; Tiamiyu, L O; Awoyinka, B S

    2012-12-01

    Folate deficiency in pregnant women is a recognized cause of spina bifida. We sought to establish the level of awareness of spina bifida as well as the use of folate supplementation among pregnant women in a developing economy. Interviewer-administered questionnaires were used to obtain information from 200 to 20 randomly selected pregnant women attending antenatal clinics at the authors' institution. Demographic information and information on parity, folic acid use and knowledge on spina bifida including its cause, prevention and treatment were obtained. Data analyses were done using Epi Info version 6. The mean age of the women was 30.3 years (range 17-52 years). Sixty-six of the women (30.0 %) were primigravida. Most of the respondents [208 (94.5 %)] have attained, at least, secondary level of education. The average gestational age at antenatal clinic booking was 20.7 weeks (range 4-38 weeks), while the average gestational age at commencement of folic acid use was 18.5 weeks (range 4-38 weeks). None of them used folic acid in the preconception period. Knowledge about spina bifida is poor and a significant number [103 (46.8 %)] have superstitious belief about its aetiology. Only 56 (25.5 %) of the respondents are aware that folic acid use prevents its occurrence; however, 194 (88.2 %) are willing to receive periconceptional folate supplementation. There is paucity of knowledge about spina bifida among Nigerian pregnant women despite their high level of formal education. We advocate an aggressive public health campaign to enlighten the women about spina bifida and encourage periconceptional folate supplementation.

  8. Screening for fetal spina bifida at the 11-13-week scan using three anatomical features of the posterior brain.

    Science.gov (United States)

    Mangione, R; Dhombres, F; Lelong, N; Amat, S; Atoub, F; Friszer, S; Khoshnood, B; Jouannic, J-M

    2013-10-01

    To evaluate the contribution of examination of specific anatomical features of the fetal posterior brain on mid-sagittal first-trimester ultrasound examination to the early detection of open spina bifida. Four independent observers reviewed a series of 260 mid-sagittal first-trimester ultrasound images from 52 cases of open spina bifida and 208 normal fetuses. The following analysis was performed by each reviewer for each image: Herman score calculation, intracranial translucency score (CFEF-IT) calculation and determination of presence or absence of three anatomical criteria: intracranial translucency (IT), caudal displacement of the brainstem and cisterna magna. The sensitivity and the false-positive rate for spina bifida detection were calculated for each of the latter three criteria. A secondary analysis was performed on the subset of images achieving a Herman score ≥ 7. The highest detection rate for spina bifida was achieved by non-visualization of the cisterna magna, with associated sensitivity of 50-73% and 39-76%, respectively, for all images and for the subset of images achieving a Herman score ≥ 7. Posterior shift of the brainstem achieved the highest detection rate (86%), but for a single reviewer only. The level of variation in performance between observers was also greatest for this sign. Absence of IT was associated with a lower detection rate for all observers. Overall, an abnormal posterior brain presenting at least one of these three criteria was associated with a detection rate ranging from 50 to 90%. In the detection of spina bifida, non-visualization of the cisterna magna achieved the best screening performance. Both non-visualization of the IT and posterior shift of the brainstem were associated with acceptable but lower detection rates. A prospective evaluation of changes in the posterior brain is needed to allow assessment of the most pertinent criteria for first-trimester screening for spina bifida. Copyright © 2013 ISUOG. Published by

  9. Preliminary investigation of methylation status of microRNA-124a in spinal cords of rat fetuses with congenital spina bifida.

    Science.gov (United States)

    Qin, Pan; Li, Lin; Zhang, Da; Liu, Qiu-Liang; Chen, Xin-Rang; Yang, He-Ying; Fan, Yingzhong; Wang, Jia-Xiang

    2017-01-01

    We investigated the expression of microRNA-124a and its methylation status in the spinal cords of rats with congenital spina bifida versus rats with normal fetuses. Real-time quantitative reverse transcription-polymerase chain reaction was used to compare the expression of microRNA-124a in the spinal cords of 42 rats with all-trans retinoic acid induced congenital spina bifida and 42 rats with normal fetuses. The DNA methylation status in the promoter region of miRNA-124a was detected using methylation specific-PCR. Compared with rats with normal fetuses, expression of microRNA-124a was significantly decreased in rats with congenital spina bifida fetuses. The percentages of spinal cords with DNA hypermethylation in the microRNA-124a promoter were 81% and 14% in the congenital spina bifida and normal control groups, respectively. The difference was statistically significant. Further apoptosis testing revealed increased apoptosis cell numbers in the congenital spina bifida samples. Meanwhile, the phosphorylated mitogen-activated protein kinase protein expression level dramatically decreased in the congenital spina bifida samples. Aberrant DNA methylation was responsible for down-regulation of microRNA-124a by regulating the mitogen-activated protein kinase pathway, suggesting that microRNA-124a is a potential diagnostic biomarker in congenital spina bifida.

  10. Marjolin's ulcers: theories, prognostic factors and their peculiarities in spina bifida patients

    Directory of Open Access Journals (Sweden)

    Nthumba Peter M

    2010-12-01

    Full Text Available Abstract Background Due to improved care, more and more children born with spina bifida in rural Kenya are surviving into adulthood. This improved survival has led to significant challenges in their lifestyles, especially the need to ensure pressure ulcer prevention and treatment. Malignant degeneration of pressure ulcers in spina bifida patients is very rare. The author describes the clinical presentation of two pressure ulcer carcinomas that are at variance from classical descriptions. Materials and methods An internet/Medline/PubMed search of English literature for theories on Marjolin's ulcer evolution and prognostic features of Marjolin's ulcers was performed. A chart review of two young adults with spina bifida who had presented to the author's hospital between 2004 and August 2010 with chronic pressure ulcers found to be Marjolin's ulcers on histo-pathological examination was performed, and the clinical features are reported. Results The two ulcers appeared clinically benign: one was a deep ulcer, while the other was shallow; both had normal, benign-appearing edges, and a foul smelling discharge. The two ulcers were surrounded by induration and multiple communicating sinuses, with no evidence of chronic osteomyelitis. The internet search revealed a total of nine theories on Marjolin's ulcer development, as well as seven clinical and four histological prognostic features. Discussion The multifactorial theory, a coalescence of a number of proposed theories, best explains the evolution of Marjolin's ulcers. Poor prognostic features include pressure ulcer carcinomas, lesions and location in the lower limbs/trunks, all present in the two patients making their prognosis dim: this is despite the surgical margins being clear of tumor. Benign appearance, induration and presence of multiple communicating sinuses are features that have not been previously described as presenting features of pressure ulcers carcinomas. Conclusion There is need for

  11. Spina bifida and unilateral focal destruction of the distal femoral epiphysis

    Energy Technology Data Exchange (ETDEWEB)

    Wolverson, M.K.; Sundaram, M.; Graviss, E.R.

    1981-03-01

    Focal destruction of the postero-lateral distal femoral epiphysis was present on radiographs in two children with spina bifida and objective lower limb sensory loss. Each patient presented with painless swelling of the knee. In one patient the epiphysis showed sclerosis and fragmentation associated with a defect. In the second patient the destructive change was the dominant radiographic abnormality and simulated bone tumor. Computed tomography in this patient showed a bone fragment occupying the defect suggesting epiphyseal fracture. The lesions in each patient were believed to be traumatic in origin and to represent a stage in the development toward neuropathic arthropathy.

  12. Investigations and findings in children with spina-bifida

    Energy Technology Data Exchange (ETDEWEB)

    Klingmueller, V.; Rutz, A.

    1982-06-01

    Physicians from different fields work together in the care of spina-liefide children. A central position occupy the pediatric physician as a primary reference person and the pediatric radiologist. There has to be a free exchange of ideas and thoughts between them. That is why anyone of them has to know the problems of the other. For the radiologist this means, that he or she has to acquire detailed knowledge of the desease symptoms and of the therapeutic possibilities, so that he or she will be able to work on a diagnostic that is suited for the particular patient.

  13. IS COGNITIVE FUNCTIONING ASSOCIATED WITH SUBJECTIVE QUALITY OF LIFE IN YOUNG ADULTS WITH SPINA BIFIDA AND HYDROCEPHALUS?

    NARCIS (Netherlands)

    Barf, Hans A.; Post, Marcel W. M.; Verhoef, Marjolein; Gooskens, Rob H. J. M.; Prevo, Arie J. H.

    Objective: To test the hypothesis that cognitive functioning is associated with subjective quality of life of young adults with spina bifida and hydrocephalus (SBHC). Design: Cross-sectional multi-centre study in The Netherlands. Subjects: A total of 110 young adults with SBHC (16-25 years old, 63%

  14. Validity and reliability of skill-related fitness tests for wheelchair-using youth with Spina Bifida.

    NARCIS (Netherlands)

    Bloemen, M.A.; Takken, T.; Backx, F.J.; Vos, M.; Kruitwagen, C.L.; Groot, J.F. de

    2017-01-01

    Objectives: To determine content validity of the Muscle Power Sprint Test (MPST), and construct validity and reliability of the MPST, 10x5 Meter Sprint Test (10x5MST), slalom test, and One Stroke Push Test (1SPT) in wheelchair-using youth with spina bifida (SB). Design: Clinimetric study. Setting:

  15. Validity and Reliability of Skill-Related Fitness Tests for Wheelchair-Using Youth With Spina Bifida

    NARCIS (Netherlands)

    Bloemen, Manon A.; Takken, Tim; Backx, Frank J.; Vos, Marleen; Kruitwagen, Cas L.; de Groot, Janke F.

    OBJECTIVE: To determine content validity of the Muscle Power Sprint Test (MPST) and construct validity and reliability of the MPST, 10x5 Meter Sprint Test (10x5MST), slalom test and one stroke push test (1SPT) in wheelchair-using youth with spina bifida (SB). DESIGN: Clinimetric study SETTING:

  16. Validity and Reliability of Skill-Related Fitness Tests for Wheelchair-Using Youth with Spina Bifida

    NARCIS (Netherlands)

    Cas L.J.J. Kruitwagen; Frank J.G. Backx; Janke de Groot; Manon A.T. Bloemen; Marleen Vos; Tim Takken

    2016-01-01

    Objective: To determine content validity of the Muscle Power Sprint Test (MPST) and construct validity and reliability of the MPST, 10x5 Meter Sprint Test (10x5MST), slalom test and one stroke push test (1SPT) in wheelchair-using youth with spina bifida (SB). Design: Clinimetric study Setting:

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

    NARCIS (Netherlands)

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

    Introduction. 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

  18. A qualitative exploration of the experiences of children with spina bifida and their parents around incontinence and social participation.

    Science.gov (United States)

    Fischer, N; Church, P; Lyons, J; McPherson, A C

    2015-11-01

    Urinary incontinence is frequently experienced by children with spina bifida, putting them at increased risk for low self-esteem and impacting upon participation in home, school and leisure activities. However, little is known about children's experiences of these continence issues. This study explored the experiences of children and young people with spina bifida around continence issues, social participation and peer relationships, in order to identify potential areas of support healthcare professionals can provide. Children and youth aged 6-18 years with diagnoses of spina bifida and neurogenic bladder and their parents were invited to participate in semi-structured interviews. Descriptive thematic analysis was employed. Eleven children (with a range of mobility levels, types of spina bifida and degrees of bladder control) and their parents participated in the study. Three broad themes were identified, which encompassed the following: (1) normal versus different; (2) independence, ownership and the road to continence; and (3) peer relationships and acceptance. The experiences discussed by the children and parents in this study ranged from minimal impact of incontinence on their day-to-day living to significant social isolation and rejection. The stigma of incontinence was apparent in all interviews. Children and youth who were able to control their bladder with minimal accidents had greater independence and more opportunities for social participation. Healthcare professionals need to take into account that parents and their children may differ in attitudes and desires about the management of incontinence. © 2015 John Wiley & Sons Ltd.

  19. Trajectories of Psychosocial Adjustment in Adolescents with Spina Bifida: A 6-Year, Four-Wave Longitudinal Follow-up

    Science.gov (United States)

    Holmbeck, Grayson N.; DeLucia, Christian; Essner, Bonnie; Kelly, Lauren; Zebracki, Kathy; Friedman, Deborah; Jandasek, Barbara

    2010-01-01

    Objective: As a follow-up to an earlier cross-sectional study (Holmbeck et al., 2003), the current multimethod, multi-informant investigation examined individual growth in psychosocial adjustment across the adolescent transition in 2 samples: young adolescents with spina bifida (SB) and typically developing adolescents (N = 68 in both groups at…

  20. Spina bifida cystica and severe congenital bilateral talipes equinovarus in one twin of a monoamniotic pair: a case report.

    Science.gov (United States)

    Kadia, Benjamin Momo; Aroke, Desmond; Tianyi, Frank-Leonel; Bechem, Ndemazie Nkafu; Dimala, Christian Akem

    2017-12-28

    Spina bifida and congenital talipes equinovarus (CTEV) are common congenital malformations which may occur together and increase morbidity. Monozygous twins are particularly at risk of these malformations and discordance in one type of malformation is typical. The occurrence of both spina bifida and CTEV in one twin of a monozygotic pair is rare. A 22 year-old Cameroonian primigravida at 36 weeks of a twin gestation was received in our district hospital at the expulsive phase of labour on a background of sub-optimal antenatal care. A caesarean section indicated for cephalo-pelvic disproportion was performed and life monoamniotic male twins were extracted. The first twin was normal. The second twin had spina bifida cystica and severe bilateral CTEV. Routine postnatal care was ensured and at day 2 of life, the affected twin was evacuated to a tertiary hospital for proper management. He was later on reported dead from complications of hydrocephalus. Spina bifida cystica with severe bilateral CTEV in one twin of a monoamniotic pair illustrates the complexity in the interplay of causal factors of these malformations even among monozygotic twins who are assumed to share similar genetic and environmental features. The occurrence and poor outcome of the malformations was probably potentiated by poor antenatal care. With postnatal diagnoses, a better outcome was difficult to secure even with prompt referral. Early prenatal diagnoses and appropriate counseling of parents are cardinal.

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

    Science.gov (United States)

    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 (pspina 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 (pspina 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.

  2. Open spina bifida: outcome for a complete cohort treated unselectively and followed into adulthood.

    Science.gov (United States)

    Hunt, G M

    1990-02-01

    Between 1963 and 1970, 117 consecutive cases of open spina bifida were treated unselectively from birth, following a full neurological examination. The author reviews the outcome 16 to 20 years later. 48 died before their sixteenth birthday. Of the 69 survivors, 60 had had a shunt inserted and two were blind following shunt dysfunction; 22 were mentally retarded (IQ less than 80); 35 were wheelchair-dependent; 52 were incontinent, and 32 of these continued to need help with its management; nine weighed greater than 75 kg; one-third of both sexes had a precocious puberty; three had insulin-dependent diabetes; 12 continued to need anticonvulsant drugs; 32 had suffered from pressure sores; 33 were unable to live without help or supervision and only 17 were capable of open employment. These findings demonstrate the wide range of disabilities implied by the diagnosis of open spina bifida. The neurological findings recorded at birth were reflected in the mortality and disability of the survivors. The sensory level represented a yardstick for predicting the likely range of handicap into adult life, provided no additional impairment resulted from serious complications: such damage occurred in seven of the survivors.

  3. Assessment on self-care, mobility and social function of children with spina bifida in Turkey.

    Science.gov (United States)

    Sirzai, Hulya; Dogu, Beril; Demir, Selamet; Yilmaz, Figen; Kuran, Banu

    2014-06-15

    The aim of the study was to investigate the functional performance in children with spina bifida, using the Pediatric Evaluation of Disability Inventory (PEDI) to look into capacity of twenty-eight children with spina bifida with lesions at different levels in different dimensions of self-care, mobility and social function. Mean age of the patients was 3.5 ± 2.3 (1-10) years. In the muscle test carried out, 13 patients (44.8%) had no movements including pelvic elevation in lower extremity muscles and they were at level 5. Sixteen patients (54%) were non-ambulatory according to the Hoofer ambulation classification. Raw and scale scores in the self-care, mobility and social function domains both in the functional skill scale and in the caregiver scale were found to be lower compared to the data of the normal population. A statistically significant correlation was observed in the self-care values of the Functional Skills Scales and the Caregiver Assistance Scale measurements, which was positive for age and negative for Functional Ambulation Scale and muscle test (P mobility area and age while a negative relation was observed between Functional Ambulation Scale and muscle test (P mobility and Functional Ambulation Scale and muscle test (P mobility are all very important factors for functional independence.

  4. Curly tail: a 50 year history of the mouse spina bifida model

    Science.gov (United States)

    van Straaten, Henny W.M.; Copp, Andrew J.

    2014-01-01

    Summary This paper reviews 50 years of progress towards understanding the aetiology and pathogenesis of neural tube defects (NTD) in the curly tail (ct) mutant mouse. More than 45 papers have been published on various aspects of curly tail with the result that it is now the best understood mouse model of NTD pathogenesis. The failure of closure of the spinal neural tube, which leads to spina bifida in this mouse, has been traced back to a tissue-specific defect of cell proliferation in the tail bud of the E9.5 embryo. This cell proliferation defect results in a growth imbalance in the caudal region that generates ventral curvature of the body axis. Neurulation movements are opposed, leading to delayed neuropore closure and spina bifida, or tail defects. It is interesting to reflect that these advances have been achieved in the absence of information on the nature of the ct gene product, which remains unidentified. In addition to the principal ct gene, which maps to distal Chromosome 4, the curly tail phenotype is influenced by several modifier genes and by environmental factors. NTD in curly tail are resistant to folic acid, but can be prevented by myo-inositol. These and other features of NTD in this system bear striking similarities to the situation in humans, making curly tail a model for understanding a sub-type of human NTD. PMID:11396850

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

    Science.gov (United States)

    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

  6. 118 SNPs of folate-related genes and risks of spina bifida and conotruncal heart defects

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    Shaw Gary M

    2009-06-01

    Full Text Available Abstract Background Folic acid taken in early pregnancy reduces risks for delivering offspring with several congenital anomalies. The mechanism by which folic acid reduces risk is unknown. Investigations into genetic variation that influences transport and metabolism of folate will help fill this data gap. We focused on 118 SNPs involved in folate transport and metabolism. Methods Using data from a California population-based registry, we investigated whether risks of spina bifida or conotruncal heart defects were influenced by 118 single nucleotide polymorphisms (SNPs associated with the complex folate pathway. This case-control study included 259 infants with spina bifida and a random sample of 359 nonmalformed control infants born during 1983–86 or 1994–95. It also included 214 infants with conotruncal heart defects born during 1983–86. Infant genotyping was performed blinded to case or control status using a designed SNPlex assay. We examined single SNP effects for each of the 118 SNPs, as well as haplotypes, for each of the two outcomes. Results Few odds ratios (ORs revealed sizable departures from 1.0. With respect to spina bifida, we observed ORs with 95% confidence intervals that did not include 1.0 for the following SNPs (heterozygous or homozygous relative to the reference genotype: BHMT (rs3733890 OR = 1.8 (1.1–3.1, CBS (rs2851391 OR = 2.0 (1.2–3.1; CBS (rs234713 OR = 2.9 (1.3–6.7; MTHFD1 (rs2236224 OR = 1.7 (1.1–2.7; MTHFD1 (hcv11462908 OR = 0.2 (0–0.9; MTHFD2 (rs702465 OR = 0.6 (0.4–0.9; MTHFD2 (rs7571842 OR = 0.6 (0.4–0.9; MTHFR (rs1801133 OR = 2.0 (1.2–3.1; MTRR (rs162036 OR = 3.0 (1.5–5.9; MTRR (rs10380 OR = 3.4 (1.6–7.1; MTRR (rs1801394 OR = 0.7 (0.5–0.9; MTRR (rs9332 OR = 2.7 (1.3–5.3; TYMS (rs2847149 OR = 2.2 (1.4–3.5; TYMS (rs1001761 OR = 2.4 (1.5–3.8; and TYMS (rs502396 OR = 2.1 (1.3–3.3. However, multiple SNPs observed for a given gene showed evidence of linkage disequilibrium indicating

  7. Different expression patterns of growth factors in rat fetuses with spina bifida aperta after in utero mesenchymal stromal cell transplantation.

    Science.gov (United States)

    Li, Hui; Miao, Jianing; Zhao, Guifeng; Wu, Di; Liu, Bo; Wei, Xiaowei; Cao, Songying; Gu, Hui; Zhang, Yi; Wang, Lili; Fan, Yang; Yuan, Zhengwei

    2014-03-01

    In a previous study, we successfully devised a prenatal surgical approach and transplanted mesenchymal stromal cells (MSCs) to fetal rat spinal column to treat retinoic acid-induced neural tube defects in rat. Our results show that MSCs survived, migrated and differentiated into neural lineage cells. We intended to study various growth factor expressions in rat fetal spinal cords with spina bifida aperta after in utero MSC transplantation and the effect of in vivo growth factor introduction for prenatal spina bifida treatment. Pregnant rats were treated with retinoic acid on embryonic day 10 and then received fetal surgery for MSC transplantation and/or lentiviral epidermal growth factor (EGF) injection on embryonic day 16; various growth factor expression in spinal cords from embryonic day 20 fetuses were analyzed by means of quantitative reverse transcriptase-polymerase chain reaction. Terminal deoxynucleotidyl transferase dUTP nick end labeling analysis was performed to observe spinal tissue apoptosis. Growth factor expression was dysregulated in spinal cords with spina bifida. After MSC transplantation, we observed significantly increased expression of EGF, fibroblast growth factor (FGF)-8, FGF-2 and FGF-20 in the MSC transplantation group compared with blank injection; Furthermore, EGF expression positively correlated with surviving MSC amounts. Expression of other growth factors was not significantly different. In vivo EGF introduction reduced spinal tissue apoptosis. Our results suggest that intrinsic EGF and FGF-2, FGF-8 and FGF-20 might affect the in vivo fate of transplanted MSCs in a fetal rat spina bifida model. In vivo EGF introduction together with MSC transplantation might serve as a new strategy for prenatal spina bifida treatment. Copyright © 2014 International Society for Cellular Therapy. All rights reserved.

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

    Directory of Open Access Journals (Sweden)

    Lammer Edward J

    2006-12-01

    Full Text Available Abstract 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.

  9. Spinal lesion level in spina bifida: a source of neural and cognitive heterogeneity.

    Science.gov (United States)

    Fletcher, Jack M; Copeland, Kim; Frederick, Jon A; Blaser, Susan E; Kramer, Larry A; Northrup, Hope; Hannay, H Julia; Brandt, Michael E; Francis, David J; Villarreal, Grace; Drake, James M; Laurent, John P; Townsend, Irene; Inwood, Susan; Boudousquie, Amy; Dennis, Maureen

    2005-04-01

    The aim of this study was to evaluate whether the level of a spinal lesion is associated with variations in anomalous brain development and neurobehavioral outcomes in children suffering from the meningomyelocele form of spina bifida and hydrocephalus (SBM-H). Two hundred sixty-eight children with SBM-H were divided into upper (T-12 and above; 82 patients) and lower (L-1 and below; 186 patients) lesion-level groups. Magnetic resonance images were qualitatively coded by radiologists and quantitatively segmented for cerebrum and cerebellum volumes. Psychometric assessments of handedness, intelligence, academic skills, and adaptive behavior were compared between lesion-level groups and also used to determine the number of children who met research-based criteria for mental retardation, attention deficit hyperactivity disorder, and learning disabilities. The magnetic resonance images obtained in children with upper-level spinal lesions demonstrated more qualitative abnormalities in the midbrain and tectum, pons, and splenium, although not in the cerebellum, compared with images obtained in children with lower-level spinal lesions. Upper-level lesions were also associated with reductions in cerebrum and cerebellum volumes, lower scores on measures of intelligence, academic skills, and adaptive behavior, and with a higher frequency of individuals meeting the criteria for mental retardation. Hispanic children (who were also more economically disadvantaged) were more likely to have upper-level lesions and poorer neurobehavioral outcomes, but lesion-level effects were generally independent of ethnicity. A higher level of spinal lesion in SBM-H is a marker for more severe anomalous brain development, which is in turn associated with poorer neurobehavioral outcomes in a wide variety of domains that determine levels of independent functioning for these children at home and school.

  10. Calculus anuria in a spina bifida patient, who had solitary functioning kidney and recurrent renal calculi.

    Science.gov (United States)

    Vaidyanathan, S; Soni, B M; Wyndaele, J-J; Buczynski, A Z; Iwatsubo, E; Stoehrer, M; Madersbacher, H; Peschel, R; Singh, G; Watt, J W H; Hughes, P L; Sett, P

    2004-01-01

    Clinical case report with comments by colleagues from Austria, Belgium, Germany, Japan, and Poland. To discuss challenges in the management of spinal bifida patients, who have marked kyphoscoliosis and no vascular access. Regional Spinal Injuries Centre, Southport, UK. A female patient, who was born with spina bifida, paraplegia and solitary right kidney, had undergone ileal loop urinary diversion. Renal calculi were noted in 1986. Percutaneous nephrostolithotomy was performed in 1989 and there was no residual stone fragment. However, she developed recurrence of calculi in the lower pole of the right kidney in 1991. Intravenous urography, performed in 1995, revealed right staghorn calculus and hydronephrosis. Chest X-ray showed markedly restricted lung volume due to severe kyphoscoliosis. In 2000, she was declared unsuitable for anaesthesia due to a lack of venous access and a high likelihood of difficulty in weaning off the ventilator in the postoperative period. In June 2002, she developed anuria (urine output=18 ml/24 h) due to ball-valve-type obstruction by a renal stone at the ureteropelvic junction. Urea: 14.4 mmol/l; creatinine: 236 microl/l. Ultrasound showed right hydronephrosis. Percutaneous nephrostomy was performed. Following relief of urinary tract obstruction, there was postobstructive diuresis (3765 ml/24 h). However, the patient expired 19 days later due to progressive respiratory failure. In this spina bifida patient, who had reached the age of 35 years, severe kyphoscoliosis and lack of vascular access presented insurmountable challenges to implement the desired surgical procedure for removal of stones from a solitary kidney.

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

    Directory of Open Access Journals (Sweden)

    Kevin R. Short

    2012-01-01

    Full Text Available 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.

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

    Science.gov (United States)

    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

  13. Urinary Tract Infection Caused byCitrobacter koseriin a Patient With Spina Bifida, an Ileal Conduit and Renal Caluli Progressing to Peri-nephric Abscess and Empyema.

    Science.gov (United States)

    Stewart, Zachary E; Shaker, Mohammed; Baxter, J David

    2017-02-01

    Urological problems are common in spina bifida and are often treated with urinary diversions. Spina bifida and ileal conduits put patients at increased risk for ascending urinary tract infections. Here we present a novel case of a Citrobacter koseri urinary tract infection complicated by a perinephric abscess with pleural extension. To our knowledge, no case of an ascending C. koseri UTI progressing to peri-nephric abscess and empyema by direct extension exists in the literature.

  14. Urinary Tract Infection Caused by Citrobacter koseri in a Patient With Spina Bifida, an Ileal Conduit and Renal Caluli Progressing to Peri-nephric Abscess and Empyema

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    Zachary E. Stewart

    2017-02-01

    Full Text Available Urological problems are common in spina bifida and are often treated with urinary diversions. Spina bifida and ileal conduits put patients at increased risk for ascending urinary tract infections. Here we present a novel case of a Citrobacter koseri urinary tract infection complicated by a perinephric abscess with pleural extension. To our knowledge, no case of an ascending C. koseri UTI progressing to peri-nephric abscess and empyema by direct extension exists in the literature.

  15. Screening for Fetal Spina Bifida Aperta by the Ultrasound and Intracranial Translucency Examinations at 11-13(+6) Weeks of Gestation.

    Science.gov (United States)

    Liu, Min; Liu, Ying; Li, Zhi-Hong; Yu, Ding

    2015-06-01

    The objective of the study is to evaluate the clinical significance of screening for fetal spina bifida aperta by ultrasound examination and intracranial translucency (IT) measurement at 11-13(+6) weeks of gestation. About 1,479 women at 11-13(+6) weeks of gestation in our hospital in 2012 were included as observation group, and 1,608 women at 11-13(+6) weeks of gestation without IT measurement in 2011 was included as controls. Detection rates of fetal spina bifida aperta in two groups were compared. The translucency thickness between the brain stem and choroid plexus and crown-rump length (CRL) in mid-sagittal view of the fetal face was measured, and translucency thickness and CRL in fetuses with spina bifida and healthy ones were compared. Detection rate of fetal spina bifida aperta in observation group was significantly higher than that in control group (six cases in observation group and one case in control group, p = 0.046). IT thickness was significantly lower in fetuses with spina bifida aperta (0.01 ± 1.25 mm) than that in healthy ones (1.73 ± 0.32 mm) (p spina bifida aperta (r = 0.001, p = 0.081). Ultrasound examination with IT measurement at 11-13(+6) weeks of gestation can be used to screen for fetal spina bifida aperta, and the reduction of IT thickness is an indicator of spina bifida aperta.

  16. The association between urinary continence and quality of life in paediatric patients with spina bifida and tethered cord

    Science.gov (United States)

    Olesen, Jamie D; Kiddoo, Darcie A; Metcalfe, Peter D

    2013-01-01

    OBJECTIVE: To determine the association between urinary continence and quality of life (QoL) in a paediatric spina bifida population. METHODS: After appropriate ethics approval, a prospective study was initiated using multiple validated QoL instruments that were distributed to patients as they presented for their annual appointment at the Northern Alberta Spina Bifida Clinic (Edmonton, Alberta). General demographic information was collected and validated questionnaires were used. The survey package included two instruments to assess overall QoL: Global Pediatric QoL (PedsQL 4.0) and Health Specific QoL-Spina Bifida (HRQoL-SB). Two instruments were also included to quantify urinary symptoms and assess urinary specific QoL: the Urinary Incontinence Severity Index – Pediatric (ISI-P) and Urinary Specific QoL (PinQ). RESULTS: A total of 71 patients were enrolled in the study. The general QoL (PedsQL 4.0) and health-specific QoL (HRQoL-SB) scores for the population indicated an overall QoL of 66% (n=69) and 83% (n=67), respectively. Approximately 46% (33 of 71) reported >1 episode of urinary incontinence per week. Urinary continence was associated with a significantly higher urinary-specific QoL (PinQ; Pspina bifida is related to urinary continence. This effect appears to be independent of the type and level of the spinal dysraphism and the presence or absence of a shunt. PMID:24421717

  17. Upper level of the spina bifida defect: how good are we?

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    Bruner, J P; Tulipan, N; Dabrowiak, M E; Luker, K S; Walters, K; Burns, P; Reed, G

    2004-11-01

    To assess the accuracy of obstetric sonography in determining the upper level of myelomeningocele lesions. This was a retrospective study of 171 consecutive cases of spina bifida repaired in utero. The upper level of the lesion as determined by obstetric sonography was assigned by community physicians prior to referral in the second trimester and by the authors at Vanderbilt University Medical Center during preoperative evaluation. One hundred and eleven cases had levels established by plane-film X-ray or magnetic resonance imaging after delivery and this was regarded as the gold standard. Of the 171 community examinations, only 29% identified a specific upper level of the lesion; our corresponding examinations specified the lesion level in all cases. Of the 111 cases that had upper levels of the lesion established by post-delivery imaging, corresponding levels were available for comparison from 35 of the community examinations and from 111 of the examinations performed at Vanderbilt. All three assigned levels were available for comparison in 35 cases. In 26% of cases, community-assigned levels agreed exactly with post-delivery levels, while 66% agreed within one level and 80% agreed within two levels. In 38% of cases, levels assigned at Vanderbilt agreed exactly with post-delivery levels, while 78% agreed within one level and 96% agreed within two levels. Upper levels of the lesion assigned at Vanderbilt were significantly more accurate overall compared with those assigned by community physicians (signed rank test [paired comparison], P = 0.048). However, comparison of lesion levels assigned at Vanderbilt in the first 50 vs. the last 61 cases revealed a significant learning effect (Fisher's exact test, P = 0.03). When comparison of lesion levels assigned by community physicians was restricted to the first 50 cases at Vanderbilt, accuracy was similar (n = 13; t-test, P = 0.16; rank sum test, 0.31). Community physicians were successful in assigning the upper level

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

    Science.gov (United States)

    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

  19. Long-term outcomes of cutaneous vesicostomy in patients with neuropathic bladder caused by spina bifida.

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    Dönmez, M İrfan; Carrasco, Alonso; Saltzman, Amanda F; Vemulakonda, Vijaya; Wilcox, Duncan T

    2017-12-01

    To evaluate the outcomes of patients who underwent cutaneous vesicostomy for management of neuropathic bladder secondary to spina bifida. We hypothesize that vesicostomy, in select patients, is beneficial to prevent upper urinary tract deterioration (UTD), reduce febrile urinary tract infections (UTIs), and preserve renal function. We performed a retrospective chart review on patients with spina bifida who underwent cutaneous vesicostomy at our institution between 2000 and 2016. Demographic information, indication for vesicostomy, pre and postoperative laboratory/radiologic studies, incidence of febrile UTIs, and urodynamic findings were abstracted. A total of 14 patients (eight females and six males) were identified. The indication for vesicostomy was UTD in four, recurrent febrile UTIs in five, parental request in two, both UTD and recurrent febrile UTIs in two, and both UTI and parental request in one patient. Seven patients had a median of three (range one to five) febrile UTI prior to surgery for cutaneous vesicostomy. Median creatinine level before surgery was 0.26 mg/dL (range 0.16-0.97). Either unilateral or bilateral ≥SFU Grade 2 hydronephrosis was present in six patients. Median age at vesicostomy creation was 26.5 months (range 4-96). Mean functional bladder capacity assessed during preoperative urodynamic studies was 107 mL (range 20-279), and detrusor sphincter dysynergia was present in all patients. High-grade vesicoureteral reflux (grade ≥3) was present in three patients, all with UTD. Mean follow-up after vesicostomy was 62.4 ± 39.3 months. After vesicostomy, only two of the seven patients with history of febrile UTIs experienced an additional febrile UTI. The median serum creatinine level was 0.36 mg/dL (range 0.2-0.58) at last follow-up. Moreover, 11/14 patients had no hydronephrosis and just two patients had unilateral SFU grade 1 hydronephrosis (Table). Worsening UTD, recurrent febrile UTIs, and high-pressure bladder despite maximal

  20. Surgery on Fetus Reduces Complications of Spina Bifida

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  1. Surgery on Fetus Reduces Complications of Spina Bifida

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  3. Surgery on Fetus Reduces Complications of Spina Bifida

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  4. Surgery on Fetus Reduces Complications of Spina Bifida

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  5. Surgery on Fetus Reduces Complications of Spina Bifida

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  6. Surgery on Fetus Reduces Complications of Spina Bifida

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  7. Detection of Spina Bifida by First Trimester Screening - Results of the Prospective Multicenter Berlin IT-Study.

    Science.gov (United States)

    Chen, Frank Chih-Kang; Gerhardt, Janine; Entezami, Michael; Chaoui, Rabih; Henrich, Wolfgang

    2017-04-01

    Purpose  To evaluate the potential of routine assessment of intracranial translucency (IT) and other posterior brain parameters in the early detection of open spina bifida during the 11 - 14 weeks screening examination. Materials and Methods  This prospective, multicenter longitudinal study was conducted with the participation of 20 certified DEGUM II or III experts in Berlin, Germany, between June 2010 and October 2013. All pregnant women undergoing a first trimester screening were included in the study and in every patient were the IT, brain stem (BS), cisterna magna (CM), BS to occipital bone distance (BSOB) and BS/BSOB ratio measured. All patients with continuing pregnancy underwent a second trimester scan. Our data was used to develop our own reference ranges. The primary outcome parameter was the presence of open spina bifida. Results  A total of 15 526 women with 16 164 fetuses were examined. Median of the IT was 2.1 mm, of the CM 1.6 mm, of the BS 2.7 mm, of the BSOB 5.5 mm, and of the BS/BSOB ratio 0.49. There were 11 cases with open spina bifida (incidence of 6.8/10 000). The detection rate was 100 % and in all cases of spina bifida, the anomaly was detected either at the first examination (n = 8) or considered suspicious and the lesion then detected a few weeks later (n = 3). Considering individual measurements, however, the detection rate was 18 % with the complete absence of the IT and 45 % with cut-off values. For the CM measurement, the detection rate was 64 % with the absence of the CM and 73 % with cut-off values. The other parameters proved not to be predictive of open spina bifida. Conclusion  In the hands of an expert, open spina bifida can be reliably diagnosed early in gestation during the 11 - 14 weeks screening. The measurement of different parameters of the posterior brain, especially the CM and the use of cut-off values are of tremendous benefit in achieving a high sensitivity in the

  8. Altered expression of 14-3-3ζ protein in spinal cords of rat fetuses with spina bifida aperta.

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    Li-na Wu

    Full Text Available BACKGROUND: A large number of studies have confirmed that excessive apoptosis is one of the reasons for deficient neuronal function in neural tube defects (NTDs. A previous study from our laboratory used 2-D gel electrophoresis to demonstrate that 14-3-3ζ expression was low in the spinal cords of rat fetuses with spina bifida aperta at embryonic day (E 17. As a member of the 14-3-3 protein family, 14-3-3ζ plays a crucial role in the determination of cell fate and anti-apoptotic activity. However, neither the expression of 14-3-3ζ in defective spinal cords, nor the correlation between 14-3-3ζ and excessive apoptosis in NTDs has been fully confirmed. METHODOLOGY/PRINCIPAL FINDINGS: We used immunoblotting and quantitative real-time PCR (qRT-PCR to quantify the expression of 14-3-3ζ and double immunofluorescence to visualize 14-3-3ζ and apoptosis. We found that, compared with controls, 14-3-3ζ was down-regulated in spina bifida between E12 and E15. Excessive apoptotic cells and low expression of 14-3-3ζ were observed in the dorsal region of spinal cords with spina bifida during the same time period. To initially explore the molecular mechanisms of apoptosis in NTDs, we investigated the expression of microRNA-7 (miR-7, microRNA-375 (miR-375 and microRNA-451 (miR-451, which are known to down-regulate 14-3-3ζ in several different cell types. We also investigated the expression of p53, a molecule that is downstream of 14-3-3ζ and can be down-regulated by it. We discovered that, in contrast to the reduction of 14-3-3ζ expression, the expression of miR-451, miR-375 and p53 increased in spina bifida rat fetuses. CONCLUSIONS/SIGNIFICANCE: These data suggest that the reduced expression of 14-3-3ζ plays a role in the excessive apoptosis that occurs in spina bifida and may be partly regulated by the over-expression of miR-451 and miR-375, and the consequent up-regulation of p53 might further promote apoptosis in spina bifida.

  9. Altered expression of 14-3-3ζ protein in spinal cords of rat fetuses with spina bifida aperta.

    Science.gov (United States)

    Wu, Li-na; Wei, Xiao-wei; Fan, Yang; Miao, Jia-ning; Wang, Li-li; Zhang, Yi; Wu, Di; Yuan, Zheng-wei

    2013-01-01

    A large number of studies have confirmed that excessive apoptosis is one of the reasons for deficient neuronal function in neural tube defects (NTDs). A previous study from our laboratory used 2-D gel electrophoresis to demonstrate that 14-3-3ζ expression was low in the spinal cords of rat fetuses with spina bifida aperta at embryonic day (E) 17. As a member of the 14-3-3 protein family, 14-3-3ζ plays a crucial role in the determination of cell fate and anti-apoptotic activity. However, neither the expression of 14-3-3ζ in defective spinal cords, nor the correlation between 14-3-3ζ and excessive apoptosis in NTDs has been fully confirmed. We used immunoblotting and quantitative real-time PCR (qRT-PCR) to quantify the expression of 14-3-3ζ and double immunofluorescence to visualize 14-3-3ζ and apoptosis. We found that, compared with controls, 14-3-3ζ was down-regulated in spina bifida between E12 and E15. Excessive apoptotic cells and low expression of 14-3-3ζ were observed in the dorsal region of spinal cords with spina bifida during the same time period. To initially explore the molecular mechanisms of apoptosis in NTDs, we investigated the expression of microRNA-7 (miR-7), microRNA-375 (miR-375) and microRNA-451 (miR-451), which are known to down-regulate 14-3-3ζ in several different cell types. We also investigated the expression of p53, a molecule that is downstream of 14-3-3ζ and can be down-regulated by it. We discovered that, in contrast to the reduction of 14-3-3ζ expression, the expression of miR-451, miR-375 and p53 increased in spina bifida rat fetuses. These data suggest that the reduced expression of 14-3-3ζ plays a role in the excessive apoptosis that occurs in spina bifida and may be partly regulated by the over-expression of miR-451 and miR-375, and the consequent up-regulation of p53 might further promote apoptosis in spina bifida.

  10. Surgery on Fetus Reduces Complications of Spina Bifida

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  11. Featured Article: Psychosocial and Family Functioning Among Latino Youth With Spina Bifida.

    Science.gov (United States)

    Papadakis, Jaclyn Lennon; Acevedo, Laura; Ramirez, Sonia; Stern, Alexa; Driscoll, Colleen F; Holmbeck, Grayson N

    2018-03-01

    This study examined differences in psychosocial and family functioning between Latino and non-Latino Caucasian youth with spina bifida (SB), and examined family functioning as a predictor of youth psychosocial functioning as moderated by ethnicity. Participants were part of a larger, longitudinal study (Devine, Holbein, Psihogios, Amaro, & Holmbeck, 2012) and included 74 non-Latino Caucasian youth with SB and 39 Latino youth with SB (M age = 11.53, 52.2% female). Data were collected at Time 1 and 2 years later, and included questionnaire and observational data of psychosocial and family functioning. Latino youth demonstrated fewer externalizing symptoms, less family conflict, but also less social competence. Family conflict was associated with psychosocial functioning in Latino youth, while family cohesion, conflict, and stress were associated with psychosocial functioning in non-Latino Caucasian youth. Psychosocial and family functioning, and their relationship over time, may be different in Latino versus Caucasian youth with SB.

  12. Theory of mind in spina bifida: Relationship with intellectual and executive functioning.

    Science.gov (United States)

    Stubberud, Jan

    2017-10-01

    This article investigates emotion recognition ability, a central aspect of Theory of Mind (ToM), in a group of individuals with spina bifida myelomeningocele (SBM) experiencing executive function deficits, and examine associations between emotion recognition, and intellectual and executive functioning. A total of 38 adult subjects with SBM were included in this study, participating in a randomized controlled trial evaluating the effects of a cognitive rehabilitation intervention for executive dysfunction. Reading the Mind in the Eyes Test (RMET) was used as a measure of emotion recognition, and neuropsychological tests and questionnaires were utilized as executive function measures. One third of the participants performed poorer on the emotion recognition task compared to normative data. Emotion recognition may represent an area being affected in adults with SBM, and it is related to verbal IQ. Findings also suggest that executive functions and emotion recognition ability in adults with SBM are independent. © 2017 Scandinavian Psychological Associations and John Wiley & Sons Ltd.

  13. Treadmill training and overground gait: decision making for a toddler with spina bifida.

    Science.gov (United States)

    Moerchen, Victoria A; Habibi, Mohammad; Lynett, Kelly A; Konrad, Jeffrey D; Hoefakker, Heather L

    2011-01-01

    This case report describes a decision-making process that was used to progress a home-based intervention that coupled treadmill and walker stepping for a preambulatory toddler with spina bifida. The toddler in this report had an L4-L5 level lesion, and began this home-based intervention at 18 months of age when she was pulling to stand. The intervention included parameters for treadmill stepping that prepared this toddler for gait with orthotics and was progressed to overground walking with a walker using a decision-making algorithm based on data obtained from a parent log and coded video. This toddler progressed from not stepping at the start of the study to ambulating 150 m with a walker at age 23 months, after 18 weeks of this intervention. The intervention and decision-making process used in this study were family centered and may be applicable to gait intervention with other populations.

  14. Does caesarean section delivery improve neurological outcome in open spina bifida?

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    Hill, A E; Beattie, F

    1994-12-01

    The antenatal diagnosis of fetuses with myelomeningocele (MMC) has focused the attention of those involved in the perinatal care on caesarean section delivery as a possible method of preserving neurological function. In this paper 25 infants with MMC were studied, 10 delivered by pre-labour caesarean section (PL C/S), and 15 by other methods. No difference in motor function was observed post natally with 50% of each group having neurological levels below L3. The PL C/S group was more heterogeneous. The feasibility of selecting a group of less impaired fetuses with good in utero leg movements for PL C/S in order to preserve neurological function depends on the ability of fetal USS to predict post natal neurological function. This preliminary report leaves unanswered the question whether C/S delivery improves neurological outcome in selected cases of open spina bifida.

  15. Psychological Functioning in Youth With Spina Bifida Living in Colombia, South America.

    Science.gov (United States)

    Nicholls, Elizabeth G; Arango-Lasprilla, Juan C; Olivera Plaza, Silvia L; Mendez, Nadezda; Quintero, Lorena; Velasco Trujillo, Diego Mauricio; Daly, Brian P

    2015-07-01

    No studies have examined psychological functioning among youth with spina bifida (SB) living in a developing country where access to mental health resources is often scarce. This study compared self-reported psychological functioning between youth with SB living in Colombia, South America, and a demographically matched comparison group of healthy Colombian children. 22 children with SB and 22 comparison children completed assessments of depression and anxiety. Most (68.81%) participants were male, and the sample had a mean age of 13.25 years (SD = 2.65 years). Results revealed that children with SB reported greater total symptoms of depression (p Colombia. © 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.

  16. Supernumerary Nipples, Congenital Scoliosis, Spina Bifida, Diastematomyelia, and Crossed Renal Ectopia in a child

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    Kiran Panthee

    2016-11-01

    Full Text Available Introduction: Supernumerary nipples are common anomalies which may be associated with several systemic disorders, particularly urinary tract abnormalities.   Case report: Here we report a case of a 4½ year old male presenting to the pediatric out patient clinic with fever for three days and recurrent sinopulmonary infections. The child had supernumerary nipples over the right side with deformed thoracic cage, congenital scoliosis, diastematomyelia, crossed renal ectopia, and spina bifida. All the conditions present together did not match any syndrome reported till date.   Conclusion: This was a rare syndrome and did not match fully with any known syndromes till date. This case warranted further investigation for its definite diagnosis but we do not have resources to that extent.

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

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    Schiano, C.M. [United Cerebral Palsy of Nassau County, Roosevelt, NY (United States); Demb, H.B. [Albert Einstein College of Medicine, Bronx, NY (United States); Brown, W.T. [Inst. for Basic Research, Staten Island, NY (United States)

    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 of the developmental and behavioral manifestations associated in the fragile X syndrome, while in others, it has no effect. 9 refs.

  18. Systematic review of bladder cancer outcomes in patients with spina bifida.

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    Rove, K O; Husmann, D A; Wilcox, D T; Vricella, G J; Higuchi, T T

    2017-10-01

    In patients with congenital bladder anomalies, bladder augmentation is used as a last resort to reduce intravesical pressure, but concerns about malignant transformation in augmented patients were first raised in the 1980s. The best evidence to date indicates that augmentation does not appear to increase the risk of bladder cancer in spina bifida patients. To date, oncologic outcomes from patients with spina bifida with and without augmentation have only been available in small case reports. To systematically evaluate factors in myelomeningocele patients with bladder cancer, including bladder augmentation, that contribute to overall survival (OS). A systematic review using PubMed was conducted by cross referencing terms 'myelomeningocele,' 'cystoplasty,' 'bladder cancer' and respective synonyms according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) statement. Inclusion criteria were studies with patients with an underlying diagnosis of myelomeningocele and bladder cancer with data on age, stage, and mortality status. Studies were excluded for spinal cord injury, history of tuberculosis or schistosomiasis, or prior ureterosigmoidostomy. Fifty-two patients were identified from 28 studies with a median age at bladder cancer diagnosis of 41 years (range 13-73); 37 (71%) presented with stage III or IV bladder cancer. Overall survival at 1 year and 2 years was 48.5% and 31.5%, respectively. Overall survival was different between those with and without augmentation (P = 0.009) by log-rank analysis. No between-group differences in OS were seen based on age, management with indwelling catheter, diversion with ileal conduit or being on a surveillance program. Only stage remained a significant predictor of OS on multivariate analysis (HR 2.011, 95% CI 1.063-3.804, P = 0.032). Secondary analysis was performed after removing patients with gastric augmentation (n = 8), and no difference in OS was seen between patients with (n = 8

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

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    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.

  20. Surgery on Fetus Reduces Complications of Spina Bifida

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  6. Surgery on Fetus Reduces Complications of Spina Bifida

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

    Directory of Open Access Journals (Sweden)

    Margaret M. Mweshi

    2017-01-01

    Full Text Available 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.

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

    Science.gov (United States)

    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.

  19. Management of concomitant scoliosis and tethered cord syndrome in non-spina bifida pediatric population.

    Science.gov (United States)

    Yaltırık, Kaan; El Tecle, Najib E; Pierson, Matthew J; Puryear, Aki; Atalay, Basar; Elbabaa, Samer K

    2017-11-01

    The management of concomitant scoliosis and tethered cord syndrome in the non-spina bifida pediatric population is challenging. In the present study, we evaluate the efficacy of different treatment modalities and propose a treatment plan for the management of affected patients. A systematic literature review was conducted by querying the MEDLINE, PubMed, Cochrane, EMBASE, Scopus, and Web of Science databases for papers published between January 1996 and June 2016 and reporting on concomitant scoliosis and tethered cord. We excluded animal studies, non-English papers as well as papers reporting on patients with multiple concomitant intraspinal anomalies such as spina bifida. Out of 1993 articles, only 13 met our inclusion criteria. These 13 articles described six main management approaches: Observation, cord untethering only, cord untethering followed by deformity correction, simultaneous cord untethering and deformity correction, and deformity correction without untethering. Selection of the best approach is a function of the patient's symptomatology and Cobb angle. We propose treatment plan for the management of patients with concomitant tethered cord syndrome and spinal deformity. Asymptomatic patients can be followed conservatively and managed as scoliosis patients with no need for untethering. Surgical management in a staged fashion seems appropriate in symptomatic patients with a Cobb angle less than 35°. In these patients, deformity can improve following untethering, thus sparing the patient the risks of surgical correction of scoliosis. Staged or non-staged cord untethering and curve correction seem to be adequate in symptomatic patients with Cobb angle >35° as these patients are likely to require both untethering and deformity correction.

  20. Surgery on Fetus Reduces Complications of Spina Bifida

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  11. “I Like to Play with My Friends”: Children with Spina Bifida and Belonging in Uganda

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    Femke Bannink

    2016-06-01

    Full Text Available This paper describes experiences of living and belonging from the perspectives of Ugandan children with spina bifida and their siblings and parents. We explored belonging at micro, meso and macro level taking into consideration African Childhood Disability Studies, central concepts of family, cultural conceptions of disability, poverty, and the notion of ‘ubuntu’, and using child-friendly culturally adjusted interview methods including play. Whilst children with spina bifida had a strong sense of belonging at household level, they experienced more difficulties engaging in larger social networks, including school. Poverty and stigma were important barriers to inclusion. We propose strengthening the network at family level, where the environment is more enabling for the children to find a place of belonging and support, and expanding investment and awareness at community and national level.

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  12. Surgery on Fetus Reduces Complications of Spina Bifida

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  18. A systematic review of the risks factors associated with the onset and natural progression of spina bifida.

    Science.gov (United States)

    Donnan, Jennifer; Walsh, Stephanie; Sikora, Lindsey; Morrissey, Andrea; Collins, Kayla; MacDonald, Don

    2017-07-01

    The purpose of this study was to systematically assess and synthesize the world literature on risk factors for the onset and natural progression of spina bifida, thereby providing a basis for policy makers to identify appropriate risk management measures to mitigate the burden of disease in Canada. Searches of several health literature databases from inception to February 2013 were conducted by a health sciences librarian. A total of three meta-analyses that studied a risk factor for the onset of spina bifida were included. Pooled results showed that paternal exposure to Agent Orange (RR=2.02; 95% CI 1.48-2.74) and maternal obesity prior to pregnancy (OR=2.24; 95% CI 1.86-2.74) each increased the risk of having a child with spina bifida. Paternal exposure to organic solvents was also close to the limit of significance (OR=1.59; 95% CI 0.99-2.56). A total of 63 observational studies, encompassing hundreds of potential risk factors, were included for risk factors for the onset of disease. One meta-analysis and four observational studies examined the impact of genetic risk factors. Only specified mutations in the 5,10-methylenetetrahydrofolate reductase (MTHFR) and dihydrofolate reductase (DHFR) genes were found to be linked to disease onset. One observational study evaluated a risk factor for the natural progression of disease. An extensive number of potential risk factors for the onset of spina bifida have been studied, though most lack sufficient evidence to confirm an association. Currently, strong evidence exists to suggest a causal association for maternal obesity prior to pregnancy, and paternal exposure to Agent Orange. Copyright © 2016. Published by Elsevier B.V.

  19. Assessing the prevalence of spina bifida and encephalocele in a Kenyan hospital from 2005–2010: implications for a neural tube defects surveillance system

    Science.gov (United States)

    Githuku, Jane N; Azofeifa, Alejandro; Valencia, Diana; Ao, Trong; Hamner, Heather; Amwayi, Samuel; Gura, Zeinab; Omolo, Jared; Albright, Leland; Guo, Jing; Arvelo, Wences

    2014-01-01

    Introduction Neural tube defects such as anencephaly, spina bifida, and encephalocele are congenital anomalies of the central nervous system. Data on the prevalence of neural tube defects in Kenya are limited. This study characterizes and estimates the prevalence of spina bifida and encephalocele reported in a referral hospital in Kenya from 2005-2010. Methods Cases were defined as a diagnosis of spina bifida or encephalocele. Prevalence was calculated as the number of cases by year and province of residence divided by the total number of live-births per province. Results From a total of 6,041 surgical records; 1,184 (93%) had reported diagnosis of spina bifida and 88 (7%) of encephalocele. Estimated prevalence of spina bifida and encephalocele from 2005-2010 was 3.3 [95% Confidence Interval (CI): 3.1-3.5] cases per 10,000 live-births. The highest prevalence of cases were reported in 2007 with 4.4 (95% CI: 3.9-5.0) cases per 10,000 live-births. Rift Valley province had the highest prevalence of spina bifida and encephalocele at 6.9 (95% CI: 6.3-7.5) cases per 10,000 live-births from 2005-2010. Conclusion Prevalence of spina bifida and encephalocele is likely underestimated, as only patients seeking care at the hospital were included. Variations in regional prevalence could be due to referral patterns and healthcare access. Implementation of a neural tube defects surveillance system would provide a more thorough assessment of the burden of neural tube defects in Kenya. PMID:26113894

  20. DNA methylation aberrations rather than polymorphisms of FZD3 gene increase the risk of spina bifida in a high-risk region for neural tube defects.

    Science.gov (United States)

    Shangguan, Shaofang; Wang, Li; Chang, Shaoyan; Lu, Xiaoling; Wang, Zhen; Wu, Lihua; Wang, Jianhua; Wang, Xiuwei; Guan, Zhen; Bao, Yihua; Zhao, Huizhi; Zou, Jizhen; Niu, Bo; Zhang, Ting

    2015-01-01

    Animal models of neural tube defects (NTDs) have indicated roles for the Fzd3 gene and the planar cell polarity signaling pathway in convergent extension. We investigated the involvement of FZD3 in genetic and epigenetic mechanisms associated with human NTDs, especially spina bifida. We explored the effects of variants spanning the FZD3 gene in NTDs and examined the role of aberrant methylation of the FZD3 promoter on gene expression in brain tissue in spina bifida. Six FZD3 single nucleotide polymorphisms were genotyped using a MassARRAY system in tissue from 165 NTD fetuses and 152 controls. DNA methylation aberrations in the FZD3 promoter region were detected using a MassARRAY EpiTYPER (17 CpG units from -500 to -2400 bp from the transcription start site) in brain tissue from 77 spina bifida and 74 control fetuses. None of the six single nucleotide polymorphisms evaluated were significantly associated with spina bifida, but the mean methylation level was significantly higher in spina bifida samples (13.70%) compared with control samples (10.91%) (p = 0.001). In terms of specific sites, DNA methylation levels were significantly higher in the spina bifida samples at 14 of the 17 CpG units, which mostly included in R2 region. FZD3 mRNA expression was negatively correlated with methylation of the FZD3 promoter region, especially the R2 region (R = 0.970; p = 0.001) in HeLa cells. The results of this study suggest that DNA methylation plays an important role in FZD3 gene expression regulation and may be associated with an increased risk of spina bifida. © 2014 Wiley Periodicals, Inc.

  1. Assessing the prevalence of spina bifida and encephalocele in a Kenyan hospital from 2005-2010: implications for a neural tube defects surveillance system.

    Science.gov (United States)

    Githuku, Jane N; Azofeifa, Alejandro; Valencia, Diana; Ao, Trong; Hamner, Heather; Amwayi, Samuel; Gura, Zeinab; Omolo, Jared; Albright, Leland; Guo, Jing; Arvelo, Wences

    2014-01-01

    Neural tube defects such as anencephaly, spina bifida, and encephalocele are congenital anomalies of the central nervous system. Data on the prevalence of neural tube defects in Kenya are limited. This study characterizes and estimates the prevalence of spina bifida and encephalocele reported in a referral hospital in Kenya from 2005-2010. Cases were defined as a diagnosis of spina bifida or encephalocele. Prevalence was calculated as the number of cases by year and province of residence divided by the total number of live-births per province. From a total of 6,041 surgical records; 1,184 (93%) had reported diagnosis of spina bifida and 88 (7%) of encephalocele. Estimated prevalence of spina bifida and encephalocele from 2005-2010 was 3.3 [95% Confidence Interval (CI): 3.1-3.5] cases per 10,000 live-births. The highest prevalence of cases were reported in 2007 with 4.4 (95% CI: 3.9-5.0) cases per 10,000 live-births. Rift Valley province had the highest prevalence of spina bifida and encephalocele at 6.9 (95% CI: 6.3-7.5) cases per 10,000 live-births from 2005-2010. Prevalence of spina bifida and encephalocele is likely underestimated, as only patients seeking care at the hospital were included. Variations in regional prevalence could be due to referral patterns and healthcare access. Implementation of a neural tube defects surveillance system would provide a more thorough assessment of the burden of neural tube defects in Kenya.

  2. Comparison between 2D ultrasonography and magnetic resonance imaging for assessing brain and spine parameters in fetuses with spina bifida.

    Science.gov (United States)

    Araujo Júnior, Edward; Nakano, Mayra Lemos; Nardozza, Luciano Marcondes Machado; Haratz, Karina Krajden; Oliveira, Patrícia Soares; Martins, Wellington P; Ajzen, Sérgio Aron; Moron, Antonio Fernandes

    2013-05-01

    To compare two-dimensional ultrasonography (2DUS) and magnetic resonance imaging (MRI) for assessing brain and spine parameters in fetuses with spina bifida. A cross-sectional study was conducted on 15 fetuses with spina bifida (one with encephalocele, four with rachischisis and 10 with myelomeningocele). The size of the atrium of the lateral ventricle, percentage shortening of the cerebellum, degree of compromising of the first vertebra and total number of vertebras affected by herniation were assessed. The MRI examination was performed not more than 7 days after the 2DUS. To compare and correlate the parameters from the two techniques, the paired Student's t test and intraclass correlation coefficient (ICC) were used. To assess the correlations of atrium measurements from 2DUS and MRI with other parameters, Pearson's correlation coefficient (r) was used. No significant difference was observed in any of the means of the parameters assessed using the two techniques (p > 0.05). Both 2DUS and MRI seemed to present satisfactory reliability in measurements on the size of the atrium of the lateral ventricle and the first vertebra affected (ICC = 0.88 and 0.75, respectively). Measurements on the atrium of the lateral ventricle from 2DUS correlated better with the other parameters than did measurements from MRI. In fetuses with spina bifida, 2DUS and MRI present similar results, but measurements on the atrium of the lateral ventricle from 2DUS correlated better with the other parameters.

  3. Spina Bifida

    Science.gov (United States)

    ... with language and reading comprehension, and trouble learning math. Additional problems such as latex allergies, skin problems, ... and fetal ultrasound. The MSAFP screen measures the level of a protein called alpha-fetoprotein (AFP), which ...

  4. How I Do It: Neural Tube Defects in Guatemala - Myelomeningocele Spina Bifida Unit Como Lo Hago Yo: Anomalías del Tubo Neural en Guatemala - Mielomeningocele Unidad de Espina Bífida e Hidrocefalia

    National Research Council Canada - National Science Library

    Graciela Manucci; Enzo Quednow

    2014-01-01

    ..., could be relevant. The NTD are Anencephaly Spina Bifida Aperta (myelomeningocele) and Spina Bifida "closed" Encephaloceles, anterior and posterior. The most frequent is the myelomeningocele. While folic acid deficiency is the most common etiological factor it is believed that the high incidence that we have in Guatemala could be secondary to a genetic cause....

  5. Application potential of bone marrow mesenchymal stem cell (BMSCs) based tissue-engineering for spinal cord defect repair in rat fetuses with spina bifida aperta.

    Science.gov (United States)

    Li, Xiaoshuai; Yuan, Zhengwei; Wei, Xiaowei; Li, Hui; Zhao, Guifeng; Miao, Jiaoning; Wu, Di; Liu, Bo; Cao, Songying; An, Dong; Ma, Wei; Zhang, Henan; Wang, Weilin; Wang, Qiushi; Gu, Hui

    2016-04-01

    Spina bifida aperta are complex congenital malformations resulting from failure of fusion in the spinal neural tube during embryogenesis. Despite surgical repair of the defect, most patients who survive with spina bifida aperta have a multiple system handicap due to neuron deficiency of the defective spinal cord. Tissue engineering has emerged as a novel treatment for replacement of lost tissue. This study evaluated the prenatal surgical approach of transplanting a chitosan-gelatin scaffold seeded with bone marrow mesenchymal stem cells (BMSCs) in the healing the defective spinal cord of rat fetuses with retinoic acid induced spina bifida aperta. Scaffold characterisation revealed the porous structure, organic and amorphous content. This biomaterial promoted the adhesion, spreading and in vitro viability of the BMSCs. After transplantation of the scaffold combined with BMSCs, the defective region of spinal cord in rat fetuses with spina bifida aperta at E20 decreased obviously under stereomicroscopy, and the skin defect almost closed in many fetuses. The transplanted BMSCs in chitosan-gelatin scaffold survived, grew and expressed markers of neural stem cells and neurons in the defective spinal cord. In addition, the biomaterial presented high biocompatibility and slow biodegradation in vivo. In conclusion, prenatal transplantation of the scaffold combined with BMSCs could treat spinal cord defect in fetuses with spina bifida aperta by the regeneration of neurons and repairmen of defective region.

  6. Intrauterine repair of spina bifida: preoperative predictors of shunt-dependent hydrocephalus.

    Science.gov (United States)

    Bruner, Joseph P; Tulipan, Noel; Reed, George; Davis, George H; Bennett, Kelly; Luker, Karla S; Dabrowiak, Mary E

    2004-05-01

    The objective of this study was to determine which factors that are present at the time of intrauterine repair of spina bifida could predict the need for ventriculoperitoneal shunt for hydrocephalus during the first year of life. One hundred seventy-eight fetuses have undergone intrauterine repair of spina bifida at Vanderbilt University Medical Center since 1997. Among these, 116 fetuses had a postnatal follow-up period of at least 12 months. The primary outcome of the study was the need for a ventriculoperitoneal shunt for hydrocephalus during the first year of life. The following variables were analyzed: maternal demographics (age, race, gravidity, and parity), gestational age at the time of surgery, ventricular size, degree of hindbrain herniation (determined by magnetic resonance imaging in 33 cases), type of defect (myelomeningocele vs myeloschisis), upper level of the lesion, presence of talipes, and intraoperative use of a lumbar drain. Statistical analysis was performed with logistic regression (to test the association of fetal and maternal factors and the need for ventriculoperitoneal shunting), 2-sample t-tests for comparison of means, and receiver operating curves with the use of the probabilities that were generated by the logistic regression for both continuous and categoric versions of the factors. Sixty-one of 116 of the fetuses (54%) who underwent operation in utero required the placement of a ventriculoperitoneal shunt before the age of 1 year. The upper level of the lesion was the strongest predictor of shunt requirement (adjusted odds ratio per 1 level increase with the use of continuous variables [S1 through T10], 1.73 [95% CI, 1.22- 2.44]; adjusted odds ratio with the use of upper lesion level >or=L3 vs 25 weeks as a categorized variable, 3.3 [95% CI, 1.28-8.24]), and preoperative ventricular size (adjusted odds ratio per 1 unit increase with the use of continuous variables, 1.17 [95% CI, 1.01-1.36]; adjusted odds ratio with the use of

  7. A cost-of-illness study of spina bifida in Italy

    Science.gov (United States)

    Colombo, Giorgio L; Di Matteo, Sergio; Vinci, Marta; Gatti, Claudia; Pascali, Maria Paola; De Gennaro, Mario; Macrellino, Elena; Mosiello, Giovanni; Redaelli, Tiziana; Schioppa, Francesca; Dieci, Cristina

    2013-01-01

    Introduction Spina bifida (SB) is a congenital malformation of the spinal cord, nerves, and adjacent covering structures, with different levels of severity and functional disability. The economic cost of spina bifida and its prevention using folic acid have never been estimated in Italy. This study was conducted to define the cost of illness of SB in Italy. Methods A retrospective multicenter observational study on the social cost of patients with SB was carried out in three SB centers in Italy. Cost data were collected relating to the 12 months preceding the enrollment time (T0), and subsequently 3 months after the T0 time (±20 days) through a case report form designed to collect the relevant information on the costs incurred during the period considered. The data for all patients were analyzed through multivariate analysis on the main parameters. Results We enrolled 128 patients equally divided between males and females, with a mean age of 13 years (minimum, 0; maximum, 29). Diagnosis was mostly postnatal, with 64 cases diagnosed at birth and 33 cases diagnosed subsequently. The lesion severity levels, as defined in the inclusion criteria, were walking (52 patients); walking with simple orthoses (33 patients); walking with complex orthoses (16 patients); and nonwalking, (25 patients). The anatomic type identified is open SB in most cases (84 patients), followed by closed SB (37 patients) and SB occulta (3 patients). The most significant cost per year was for assistive devices, for a total of 4307.00 €, followed by hospitalization (907.00 €), examinations (592.00 €), and drug therapy (328.00 €). Cost breakdown by age range shows that the highest costs are incurred in the 0–4 age range. The highest cost was for cases of open SB (12,103.00 €). The cost/degree of severity ratio showed that the highest cost was for nonwalking patients (14,323.00 €), followed by patients walking with complex orthoses (13,799.00 €). Conclusion The data from this study

  8. Prevalence and time trends of spina bifida in fourteen cities located in the Liaoning province of northeast China, 2006-2015.

    Science.gov (United States)

    Ba, Gen; Wu, Qi-Jun; Chen, Yan-Ling; Huang, Yan-Hong; Gong, Ting-Ting

    2017-03-21

    The present study sought to assess the time trends of spina bifida on the basis of cases identified by the Liaoning Birth Defects Registry in 14 cities from 2006 to 2015. We calculated the prevalence of spina bifida, percent and average change of time trends, and contribution rates of each city. Poisson regression model was used to find the line of best fit for spina bifida prevalence by year, with year as a continuous independent variable. From 2006 to 2015, a total of 2,029 spina bifida cases were identified from 3,248,954 live births (6.25/10,000 live births). We observed statistically significant decreasing trend of overall time trend (11.57% each year). Chaoyang, Fuxin, and Huludao were the top three leading cities, with 14.30/10,000 live births, 9.70/10,000 live births, and 9.20/10,000 live births, respectively. Inversely, the bottom three cities with lowest prevalence were Anshan (2.64/10,000 live births), Dandong (3.43/10,000 live births), and Dalian (3.45/10,000 live births). Of note, we observed significant decreasing trends in over half of these cities (n = 8). In addition, the decreasing trend of overall time trend could be mainly attributed to cities of Shenyang, Fushun, and Jinzhou which accounted for nearly one third. In summary, our study suggested a decreasing time trend of spina bifida during the past decade in the Liaoning province. The findings of this study provide evidence that the nationwide folic acid supplement program has been an effective strategy to prevent spina bifida.

  9. What young people with spina bifida want to know about sex and are not being told.

    Science.gov (United States)

    Akre, C; Light, A; Sherman, L; Polvinen, J; Rich, M

    2015-11-01

    The aim of this paper was 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. As part of the Video Intervention/Prevention Assessment (VIA) - transitions, a prospective cohort study, 309 h of video data were collected from 14 participants (13-28 years old) with SB. Participants were loaned a video camcorder for 8-12 weeks to shoot visual narratives about any aspects of their lives. V/A visual narratives were analysed with grounded theory using NVivo. Out of 14 participants, 11 (six women) addressed issues surrounding romantic relationships and sexuality in their video clips. Analysis revealed shared concerns, questions and challenges regarding sexuality gathered under four main themes: romantic relationships, sexuality, fertility and parenthood, and need for more talk on sexuality. 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. © 2015 John Wiley & Sons Ltd.

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

    Science.gov (United States)

    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.

  11. Structure, integrity, and function of the hypoplastic corpus callosum in spina bifida myelomeningocele.

    Science.gov (United States)

    Crawley, Jennifer T; Hasan, Khader; Hannay, H Julia; Dennis, Maureen; Jockell, Catherine; Fletcher, Jack M

    2014-10-01

    Although there are many studies of people with complete or partial hypogenesis of the corpus callosum (CC), little is understood about the hypoplastic CC in which all structures are present but thinned. Spina bifida myelomeningocele (SBM) is a model organism for such studies because many have either a hypogenetic or hypoplastic CC. We used diffusion tensor tractography (DTT) to evaluate the hypoplastic CC in SBM and its relation to interhemispheric functions and intelligence quotient (IQ). Participants were individuals with SBM and an intact or hypoplastic CC (n=28), who were compared to a typically developing comparison group (n=32). Total and regional DTT volume and integrity measures (fractional anisotropy, axial diffusivity, and radial diffusivity) of the CC were related to measures of intelligence (IQ), bimanual motor functioning, and dichotic auditory performance. As predicted, DTT showed variations in volume and integrity that were maximized in the entire CC and the posterior CC. IQ correlated with entire CC volume, anterior and posterior regional CC volumes, and also with measures of integrity. Bimanual motor functioning correlated with the anterior and posterior volumes of the CC but not with any integrity measures. Axial diffusivity in the posterior CC was negatively correlated with right ear dichotic listening performance. The hypoplastic CC is not macrostructurally or microstructurally intact in SBM, even when it appears radiologically intact. Both volume and integrity of the posterior regions were related to reductions in IQ and to interhemispheric processing. These findings may transfer to other disorders characterized by a hypoplastic CC.

  12. Treatment of Ventriculitis with Gentamicin and Cloxacillin in Infants Born with Spina Bifida

    Science.gov (United States)

    Lorber, J.; Kalhan, S. C.; Mahgrefte, B.

    1970-01-01

    Of 783 newborn infants with spina bifida cystica and cranium bifidum treated in the 6 years to December 1966, 11% died of ventriculitis. 24% of all deaths were due to this cause. Experience with treatment of ventriculitis with 2 of the antibiotic drugs, gentamicin and cloxacillin, during an 18-month period is presented. CSF levels were estimated during systemic and intraventricular administration of a drug and the clinical response was correlated with these levels. Of the 14 infants treated with gentamicin, the majority of whom had Gram-negative infections, 7 recovered. The 7 who died as a result of ventriculitis were mostly under 4 weeks of age. There was close correlation between the CSF levels attained and results of therapy. It was essential to give the drug intraventricularly to attain any recordable level, and to obtain the best results the systemic and intraventricular dose of the drug had to be adjusted to give CSF levels that exceeded the minimum inhibitory concentration considerably. 2 infants who recovered died later of other causes, but 4 of the 5 survivors had normal developmental attainments. No toxic effects were observed. The 7 infants treated with cloxacillin, all of whom had Gram-positive infections, survived, 3 with normal development. The importance of intraventricular administration of drugs and proper control of doses to achieve optimal therapeutic levels is emphasized. PMID:4911742

  13. Neuropsychological Profiles of Children with Aqueductal Stenosis and Spina Bifida Myelomeningocele

    Science.gov (United States)

    Hampton, Lyla E.; Fletcher, Jack M.; Cirino, Paul; Blaser, Susan; Kramer, Larry A.; Dennis, Maureen

    2014-01-01

    We compared neuropsychological profiles in children with shunted hydrocephalus secondary to aqueductal stenosis (AS), a rare form of congenital hydrocephalus, and spina bifida myelomeningocele (SBM), a common form of congenital hydrocephalus. Participants were 180 children with shunted hydrocephalus grouped according to etiology: SBM (n = 151), AS (n = 29), and typically developing (TD; n = 60) individuals. The group with AS performed below the TD group on all tasks except for reading, and their overall performance was higher than the group with SBM, who had the lowest performance in the sample. Both clinical groups significantly differed from the TD group on tasks of spatial function, concept formation, motor function, and memory. Performance of the subgroup of AS children with normal cerebellum status approximated that of the TD group, while those with cerebellar anomalies performed lower than others with AS. Cerebellar abnormalities (present in the whole SBM group and in a subset of the AD group) are associated with more compromise of cognitive as well as motor function. PMID:23153482

  14. The role of urodynamic studies in the diagnosis and treatment of patients with spina bifida

    Science.gov (United States)

    Alatas, I.; Demirci, H.; Canaz, Huseyin; Akdemir, O.; Baydin, S.; Ozel, K.

    2015-01-01

    Aim: Spina bifida (SB) is a congenital deformity that is frequently seen in infancy. Surgical treatment and clinical follow-up of patients with the diagnosis of SB are important to provide education to the patients and their relatives, to increase patient survival, to ensure that they have a more comfortable life. Neuro-urological problems are highly important for the patients in terms of both social and medical. Materials and Methods: The medical records of patients who underwent surgery for SB and tethered cord syndrome at our clinic in the past year were retrospectively evaluated. The results of urodynamic studies of the patients were evaluated. The results of patients who underwent control urodynamic studies during the follow-up period were compared with the previous results, and their clinical courses were determined. Results: The most frequent urodynamic changes in patients were hyperactive detrusor activity and detrusor sphincter dyssynergy preoperatively. Conclusion: A significant improvement was observed when the results of postoperative urodynamic studies were evaluated in patients who underwent surgery for tethered cord. PMID:25972935

  15. Anatomical and diffusion MRI of deep gray matter in pediatric spina bifida

    Directory of Open Access Journals (Sweden)

    Ashley L. Ware

    2014-01-01

    Full Text Available Individuals with spina bifida myelomeningocele (SBM exhibit brain abnormalities in cortical thickness, white matter integrity, and cerebellar structure. Little is known about deep gray matter macro- and microstructure in this population. The current study utilized volumetric and diffusion-weighted MRI techniques to examine gray matter volume and microstructure in several subcortical structures: basal ganglia nuclei, thalamus, hippocampus, and amygdala. Sixty-six children and adolescents (ages 8–18; M = 12.0, SD = 2.73 with SBM and typically developing (TD controls underwent T1- and diffusion-weighted neuroimaging. Microstructural results indicated that hippocampal volume was disproportionately reduced, whereas the putamen volume was enlarged in the group with SBM. Microstructural analyses indicated increased mean diffusivity (MD and fractional anisotropy (FA in the gray matter of most examined structures (i.e., thalamus, caudate, hippocampus, with the putamen exhibiting a unique pattern of decreased MD and increased FA. These results provide further support that SBM differentially disrupts brain regions whereby some structures are volumetrically normal whereas others are reduced or enlarged. In the hippocampus, volumetric reduction coupled with increased MD may imply reduced cellular density and aberrant organization. Alternatively, the enlarged volume and significantly reduced MD in the putamen suggest increased density.

  16. Attention in spina bifida myelomeningocele: Relations with brain volume and integrity

    Directory of Open Access Journals (Sweden)

    Paulina A. Kulesz

    2015-01-01

    Full Text Available This study investigated the relations of tectal volume and superior parietal cortex, as well as alterations in tectocortical white matter connectivity, with the orienting and executive control attention networks in individuals with spina bifida myelomeningocele (SBM. Probabilistic diffusion tractography and quantification of tectal and superior parietal cortical volume were performed on 74 individuals aged 8–29 with SBM and a history of hydrocephalus. Behavioral assessments measured posterior (covert orienting and anterior (conflict resolution, attentional control attention network functions. Reduced tectal volume was associated with slower covert orienting; reduced superior parietal cortical volume was associated with slower conflict resolution; and increased axial diffusivity and radial diffusivity along both frontal and parietal tectocortical pathways were associated with reduced attentional control. Results suggest that components of both the orienting and executive control attention networks are impaired in SBM. Neuroanatomical disruption to the orienting network appears more robust and a direct consequence of characteristic midbrain dysmorphology; whereas, executive control difficulties may emerge from parietal cortical anomalies and reduced frontal and parietal cortical–subcortical white matter pathways susceptible to the pathophysiological effects of congenital hydrocephalus.

  17. The Cerebellum in Children with Spina Bifida and Chiari II Malformation: Quantitative Volumetrics by Region

    Science.gov (United States)

    Dennis, Maureen; Cirino, Paul T.; El-Messidi, Lyla; Fletcher, Jack M.

    2011-01-01

    Few volumetric MRI studies of the entire cerebellum have been published; even less quantitative information is available in patients with hindbrain malformations, including the Chiari II malformation which is ubiquitous in patients with spina bifida meningomyelocele (SBM). In the present study, regional volumetric analyses of the cerebellum were conducted in children with SBM/ Chiari II and typically developing (TD) children. Total cerebellar volume was significantly reduced in the SBM group relative to the TD group. After correcting for total cerebellum volume, and relative to the TD group, the posterior lobe was significantly reduced in SBM, the corpus medullare was not different, and the anterior lobe was significantly enlarged. Children with thoracic level lesions had smaller cerebellar volumes relative to those with lumbar/sacral lesions, who had smaller volumes compared to TD children. The reduction in cerebellar volume in the group with SBM represents not a change in linear scaling but rather a reconfiguration involving anterior lobe enlargement and posterior lobe reduction. PMID:20143197

  18. Sensory neuron differentiation potential of in utero mesenchymal stem cell transplantation in rat fetuses with spina bifida aperta.

    Science.gov (United States)

    Ma, Wei; Wei, Xiaowei; Gu, Hui; Li, Hui; Guan, Kaoping; Liu, Dan; Chen, Lizhu; Cao, Songying; An, Dong; Zhang, Henan; Huang, Tianchu; Miao, Jianing; Zhao, Guifeng; Wu, Di; Liu, Bo; Wang, Weilin; Yuan, Zhengwei

    2015-09-01

    In previous studies, we found that the deficiency of sensory and motor neurons was a primary defect associated with the spinal malformation. Upon prenatal treatment of spina bifida through in utero stem cell transplantation in a retinoic acid-induced spina bifida rat model, we found that the mesenchymal stem cell (MSCs) survived, migrated, and differentiated into cells of a neural lineage. In the present study, we investigated whether the transplanted MSCs had the potential to differentiate into sensory neurons or to protect sensory neurons in the defective spinal cord. Pregnant rats treated with retinoic acid on embryonic day (E) 10, underwent fetal surgery for MSC transplantation on E16. The fetuses were harvested on E20. Immunofluorescence was used to detect the expression of Brn3a protein in the transplanted MSCs and dorsal root ganglion (DRG) neurons in the defective spinal cords. The expression of the transcription factors Brn3a and Runx1 in spinal cords was analyzed using real-time polymerase chain reaction. Some of the transplanted MSCs expressed sensory neuron cell specific phenotypes. The expression of Brn3a and Runx1 was upregulated in the defective spinal cords when compared to controls. The percentage of Brn3a-positive neurons in DRG was also increased after transplantation. Our results indicate that the transplantation of MSCs into the spinal cord could promote the transplanted MSCs and the surrounding cells to differentiate toward a sensory neuron cell fate and to play an important role in protecting sensory neurons in DRG. This approach might be of value in the treatment of sensory neuron deficiency in spina bifida aperta. © 2015 Wiley Periodicals, Inc.

  19. Surgical treatment for lumbar hyperlordosis after resection of a spinal lipoma associated with spina bifida: A case report.

    Science.gov (United States)

    Sato, Tatsuya; Yonezawa, Ikuho; Onda, Shingo; Yoshikawa, Kei; Takano, Hiromitsu; Shimamura, Yukitoshi; Okuda, Takatoshi; Kaneko, Kazuo

    2017-09-01

    A hyperlordosis deformity of the lumbar spine is relatively rare, and surgical treatment has not been comprehensively addressed. In this case report, we describe the clinical presentation, surgical treatment, and medium-term follow-up of a patient presenting with a progressive lumbar hyperlordosis deformity after resection of a spinal lipoma associated with spina bifida. The patient was a 20-year-old woman presenting with a progressive hyperlordosis deformity of the lumbar spine associated with significant back pain (visual analog pain score of 89/100 mm), but with no neurological symptoms. The lumbar lordosis (LL), measured on standing lateral view radiographs, was 114°, with a sagittal vertical axis (SVA) of -100 mm. The patient had undergone excision of a lipoma, associated with spina bifida of the lumbar spine, at 7 months of age.She was first evaluated at our hospital at 18 years of age for progressive spinal deformity and lumbago. An in situ fusion, from T5 to S1, using pedicle screws with bone graft obtained from the iliac crest, was performed. Postoperatively, the LL decreased to 93°, and the SVA decreased to -50 mm. The decision to not correct the hyperlordosis deformity fully was intentional. Seven years and 1 month postsurgery, the patient had no limitations in standing and walking and reported a pain score of 8/100 mm; there was no evidence of a loss of correction. Lumbar hyperlordosis after resection of a spinal lipoma associated with spina bifida is rare. Posterior fixation provided an effective treatment in this case. As the lumbar hyperlordosis deformity is often high, correction can be difficult. In this case, although the correction and fusion were performed in situ, there was no progression of either the deformity or the lumbago. Early detection remains an essential component of effective treatment, allowing correction when the spinal deformity is easily reversible.

  20. First Case of Autonomic Dysreflexia Following Elective Lower Thoracic Spinal Cord Transection in a Spina Bifida Adult.

    Science.gov (United States)

    Garces, Juanita; Mathkour, Mansour; Scullen, Tyler; Kahn, Lora; Biro, Erin; Pham, Alex; Sulaiman, Olawale A R; Smith, Roger; Bui, Cuong J

    2017-12-01

    Spinal cord transection is a radical but effective treatment for highly selective cases of symptomatic spinal retethering in paraplegic spina bifida patients. Autonomic dysreflexia (AD) is a potentially life-threatening syndrome involving a dysregulated sympathetic discharge reflex commonly seen following cervical and high thoracic spinal cord injury, leading to a disconnect between autonomic pathways above and below the lesion that can lead to severe complications including uncontrolled hypertension, bradycardia, stroke, and potentially death. Herein we present a case in which a paraplegic spina bifida patient presenting with symptomatic spinal retethering experienced autonomic dysreflexia following an elective spinal cord transection. A 51-year-old male with a history of complex spina bifida presented with an active cerebrospinal fluid leak. Physical examination revealed a thin covering of abnormal epidermis over the large placode. Magnetic resonance imaging revealed a large myelomeningocele defect with posterior element defects spanning from L2 to the sacrum with evidence of tethering. The patient underwent an intradural transection of the spinal cord with a "blind-pouch" closure of the dura at the level of T12/L1. Postoperatively, the patient developed intermittent episodes of hypertension, bradycardia, headaches, altered mental status, severe perspiration, and red flushing of the upper torso, face, and arms. The diagnosis of AD was made clinically and managed with a positive response to a combination of beta- and alpha-blockade along with patient education on avoidance of common AD triggers. At 5-year follow-up the patient has continued to do well on medication. This case highlights a potential major side effect from elective transection of the spinal cord. If unrecognized and untreated, AD can cause significant distress and morbidity. We hope this first case report serves to supplement existing data and aid in future surgical and medical decision

  1. [Changes in life styles of pregnant women and risks for having a pregnancy afflicted with spina bifida].

    Science.gov (United States)

    Kondo, Atsuo; Iwagaki, Shigeaki; Kihira, Masamichi; Nakanishi, Yoshito; Shimosuka, Yoichi; Okai, Ikuyo; Shinozaki, Keiko

    2013-07-01

    Though periconceptional intakes of folic acid could prevent the occurrence of spina bifida by 50 to 70%, the prevalence has not shown any decreasing tendency during the past 30 years in Japan. We aim to analyze various parameters through life style questionnaires and 3-day food records obtained from pregnant women the last 10 years, and to examine whether their life styles have been shifting to the direction of lowering the incidence of spina bifida. Life style questionnaires inquired of knowledge of folic acid in relation to preventing spina bifida during a pregnancy and other relevant parameters, which were collected from 11,861 participants during a period of from 2002 to 2011. Food records asked participants to semi-quantitatively describe diets and beverages they consumed for a 3-day period, which were collected from 1,081 pregnant women from 2003 to 2011. Life style questionnaires demonstrated that knowledge of folic acid and the proportion of those who took folic acid supplements elevated from 15.3 and 9.1% in 2002 to 43.7 and 61.5% in 2011, respectively, that comparison of those who took folic acid supplements from 2008 to 2011 residing in one of 8 districts of Japan showed a significant difference, i.e., the proportion of those in the Chugoku or Kyushu district being significantly lower compared to that in the Hokkaido district, and that other life style parameters have not much altered the past 9 years, e.g., those who conceived as planed being 67%, those who confirmed own pregnancy within 6 weeks of pregnancy being 70%, those who took balanced diets being 65%, and those who did not smoke or drink being 95% and 96%, respectively. Three-day food records revealed that the mean dietary folate intakes ranged from 260 to 360 microg/day in each year which were less than the recommended dietary allowance (RDA) publicized by the government, but that the proportion of pregnant women in the first trimester who consumed folic acid supplements from 4 weeks prior to

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

    Science.gov (United States)

    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

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

    Science.gov (United States)

    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.

  4. Comparison of Health-Related Quality of Life between children with cerebral palsy and spina bifida.

    Science.gov (United States)

    Tezcan, Sezen; Simsek, Tülay Tarsuslu

    2013-09-01

    This study has two aims-the first is to compare the Health Related Quality of Life (HRQoL) between children with cerebral palsy (CP) and children with spina bifida (SB); the second is to investigate the relationship between HRQoL and age, sex, body mass index (BMI), level of ambulation, cooperation, family income and the mother's education level in both groups of children. The study included 96 children with CP and 70 children with SB (aged 5-18) who attended a physiotherapy and rehabilitation program at an institute of special training and rehabilitation. Socio-demographic information was obtained within the study. The Child Health Questionnaire (CHQ-PF50) was used to evaluate HRQoL. A significant difference was found in terms of age and BMI between children with CP and SB (pchildren with CP. There was a significant difference between the two groups in terms of role/social limitations - emotional behavioral, behavior, global behavior, parental impact-emotional and parental impact-time (pchildren with SB, unlike children with CP. The HRQoL of children with CP was lower than children with SB. The parameters of behavior and parental impact were particularly affected in the children with CP. Minimizing behavioral problems (which can improve with advancing age) of the children with CP and reducing parental impact are important for improving the HRQoL of both the child and parents. There is a need for further studies on this issue. Copyright © 2013 Elsevier Ltd. All rights reserved.

  5. Assessment of bladder and kidney functioning in adult spina bifida patients by Dutch urologists: a survey.

    Science.gov (United States)

    Veenboer, Paul W; Ruud Bosch, J L H; de Kort, Laetitia M O

    2014-03-01

    To investigate how urologists generally perform the follow-up of adult spina bifida (SB) patients and to see to which extent recommendations from guidelines on neurogenic lower urinary tract dysfunction are followed. A self-designed electronic multiple choice questionnaire was sent to all 365 urologists in the Netherlands. Overall 100 urologists (27.4%) responded, of which 96 (26.3%) responses were usable. Of 95 urologists, 18 (18.9%) saw no adult SB patients, 47 (49.5%) saw 1-5 patients/year, 15 (15.8%) saw 6-10, and 15 urologists (15.8%) saw >10 adult SB patients/year. Of 96 urologists, a specialized clinic for adult SB patients was present in only 11 (11.5%) cases. Ultrasonography was performed regularly (at least once every 1-5 years) by 68/74 (91.9%) urologists. Glomerular filtration rate (GFR) was determined at least every 5 years by 66/74 (89.1%) urologists. For determination of GFR, serum creatinine was most often used (94.5%). Renography and video-urodynamic investigations (UDS) were performed on a regular basis by 8.1% and 24.3%, respectively. In adult SB patients, the responding Dutch urologists regularly evaluate bladder and kidney function using GFR and ultrasonography, although less frequently than recommended by the guidelines. UDS is performed on indication only, which is not in accordance with the guidelines. Regular UDS might be valuable to detect risk factors for insidious renal damage. The role of renography, as well as the desirability of multidisciplinary teams, has yet to be determined. © 2013 Wiley Periodicals, Inc.

  6. Increased Sexual Health After Restored Genital Sensation in Male Patients with Spina Bifida or a Spinal Cord Injury: the TOMAX Procedure

    NARCIS (Netherlands)

    Overgoor, M. L. E.; de Jong, T. P. V. M.; Cohen-Kettenis, P. T.; Edens, M. A.; Kon, M.

    2013-01-01

    Purpose: In this study we prospectively investigated the contribution of restored penile sensation to sexual health in patients with low spinal lesions. Materials and Methods: In 30 patients (18 with spina bifida, 12 with spinal cord injury, age range 13 to 55 years) with no penile sensation but

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

    Science.gov (United States)

    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…

  8. Personal and environmental factors to consider when aiming to improve participation in physical activity in children with Spina Bifida : a qualitative study

    NARCIS (Netherlands)

    Bloemen, Manon A. T.; Verschuren, Olaf; van Mechelen, Claudia; Borst, Hanneke E.; de Leeuw, Arina J.; van der Hoef, Marsha; de Groot, Janke F.

    2015-01-01

    Background: Youth with spina bifida (SB) are less fit and active than other groups with childhood disability. While recent studies have shown benefits of exercise training, the increased fitness levels do not sustain or lead to increased levels of physical activity (PA) in these children. Therefore,

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

    Science.gov (United States)

    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 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.

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

    Science.gov (United States)

    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.

  11. Skin Ulcers and Mortality Among Adolescents and Young Adults With Spina Bifida in South Carolina During 2000–2010

    Science.gov (United States)

    Cai, Bo; McDermott, Suzanne; Wang, Yinding; Royer, Julie A.; Mann, Joshua R.; Hardin, James W.; Ozturk, Orgul; Ouyang, Lijing

    2015-01-01

    The authors investigated 48 deaths (7% death rate) among 690 adolescents and young adults with spina bifida in South Carolina during 2000–2010. The authors used Medicaid and other administrative data and a retrospective cohort design that included people with spina bifida identified using ICD-9 codes. Cox regression models with time-dependent and time-invariant covariates, and Kaplan–Meier survival curves were constructed. The authors found that 21.4% of the study group had a skin ulcer during the study period and individuals with skin ulcers had significantly higher mortality than those without ulcers (P < .0001). People who had their first skin ulcer during adolescence had higher mortality than those who had the first skin ulcer during young adulthood (P = .0002; hazard ratio = 10.70, 95% confidence interval for hazard ratio: 3.01, 38.00) and those without skin ulcers, controlling for other covariates. This study showed that age at which individuals first had a skin ulcer was associated with mortality. PMID:26239488

  12. Young adults with spina bifida transitioned to a medical home: a survey of medical care in Jacksonville, Florida.

    Science.gov (United States)

    Aguilera, Antonio M; Wood, David L; Keeley, Cortney; James, Hector E; Aldana, Philipp R

    2015-10-23

    OBJECT The transition of the young adult with spina bifida (YASB) from pediatric to adult health care is considered a priority by organized pediatrics. There is a paucity of transition programs and related studies. Jacksonville Health and Transition Services (JaxHATS) is one such transition program in Jacksonville, Florida. This study's purpose was to evaluate the health care access, utilization, and quality of life (QOL) of a group of YASBs who have transitioned from pediatric care. METHODS A survey tool addressing access to health care and quality of health and life was developed based on an established survey. Records of the Spinal Defects Clinic held at Wolfson Children's Hospital and JaxHATS Clinic were reviewed and YASBs (> 18 and spina bifida (SB) specialists; none reported difficulty or delays in obtaining health care. Only 2 patients required emergent care in the last year for an SB-related medical problem. Seven respondents reported very good to excellent QOL. Family, lifestyle, and environmental factors were also examined. CONCLUSIONS In this small group of YASBs with a medical home, easy access to care for medical conditions was the norm, with few individuals having recent emergency visits and almost all reporting at least a good overall QOL. Larger studies of YASBs are needed to evaluate the positive effects of medical homes on health and QOL in this population.

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

    Science.gov (United States)

    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

  14. Pyonephrosis and urosepsis in a 41-year old patient with spina bifida: Case report of a preventable death

    Directory of Open Access Journals (Sweden)

    Vaidyanathan Subramanian

    2012-05-01

    Full Text Available Abstract Background Urological complications are the major cause of ill health in patients with spina bifida. Urinary sepsis accounted for the majority of admissions in patients with spina bifida. As the patient grows older, changes occur in the adult bladder, leading to increases in storage pressure and consequent risk of deterioration of renal function, which may occur insidiously. Case presentation A 34-year-old male spinal bifida patient had been managing neuropathic bladder by penile sheath. Intravenous urography revealed normal kidneys. This patient was advised intermittent catheterisations. But self-catheterisation was not possible because of long, overhanging prepuce and marked spinal curvature. This patient developed repeated urine infections. Five years later, ultrasound examination of urinary tract revealed hydronephrotic right kidney with echogenic debris within the collecting system. There was no evidence of dilatation of the ureter near the vesicoureteric junction. The left kidney appeared normal. There was no evidence of calculus disease seen in either kidney. Indwelling urethral catheter drainage was established. Two years later, MAG-3 renogram revealed normal uptake and excretion by left kidney. The right kidney showed little functioning tissue. Following a routine change of urethral catheter this patient became unwell. Ultrasound examination revealed hydronephrotic right kidney containing thick hyper-echoic internal septations and debris in the right renal pelvis suspicious of pyonephrosis. Under both ultrasound and fluoroscopic guidance, an 8 French pig tail catheter was inserted into the right renal collecting system. 150 ml of turbid urine was aspirated immediately. This patient developed large left pleural effusion, collapse/consolidation of the left lower lobe, a large fluid collection in the abdomen extending into the pelvis and expired twenty days later because of sepsis and respiratory failure. Conclusion Although

  15. Cranial and cerebral signs in the diagnosis of spina bifida between 18 and 22 weeks of gestation: a German multicentre study.

    Science.gov (United States)

    Bahlmann, F; Reinhard, I; Schramm, T; Geipel, A; Gembruch, U; von Kaisenberg, C S; Schmitz, R; Stupin, J; Chaoui, R; Karl, K; Kalache, K; Faschingbauer, F; Ponnath, M; Rempen, A; Kozlowski, P

    2015-03-01

    The aim of this article is to study secondary cranial signs in fetuses with spina bifida in a precisely defined screening period between 18 + 0 and 22 + 0 weeks of gestation. On the basis of retrospective analysis of 627 fetuses with spina bifida, the value of indirect cranial and cerebral markers was assessed by well-trained ultrasonographers in 13 different prenatal centres in accordance with the ISUOG (International Society of Ultrasound in Obstetrics and Gynecology) guidelines on fetal neurosonography. Open spina bifida was diagnosed in 98.9% of cases whereas 1.1% was closed spina bifida. Associated chromosomal abnormalities were found in 6.2%. The banana and lemon signs were evident in 97.1% and 88.6% of cases. Obliteration of the cisterna magna was seen in 96.7%. Cerebellar diameter, head circumference and biparietal diameter were below the 5th percentile in chromosomally normal fetuses in 72.5%, 69.7% and 52%, respectively. The width of the posterior horn of the lateral ventricle was above the 95th percentile in 57.7%. The secondary cranial and cerebral signs were dependent on fetal chromosome status and width of the posterior horn. Biparietal diameter was also dependent on the chromosome status with statistical significance p = 0.0068. Pregnancy was terminated in 89.6% of cases. In standard measuring planes, lemon sign, banana sign and an inability to image the cistern magna are very reliable indirect ultrasound markers of spina bifida. © 2014 John Wiley & Sons, Ltd. © 2014 John Wiley & Sons, Ltd.

  16. Fluid area measurements in the posterior fossa at 11-13 weeks in normal fetuses and fetuses with open spina bifida.

    Science.gov (United States)

    Karl, Katrin; Heling, Kai Sven; Chaoui, Rabih

    2015-01-01

    To measure the area of the intracranial translucency (IT) (syn: 4th ventricle) and the future cisterna magna (CM) in normal fetuses and to compare with fetuses with open spina bifida. In the midsagittal plane of the face of 220 fetuses between 11 and 13 weeks' gestation, the areas of the IT and CM were measured and the sum, defined as the posterior fossa fluid (PFF) area was calculated. Reference ranges were constructed in relation to the crown-rump length. The study group consisted of 21 fetuses with open spina bifida and showed in all cases a single pocket of fluid in the posterior fossa. Fetuses with no fluid in the fossa were excluded. This PFF-area was measured and compared with the reference range of the IT-area and the PFF-area of normal fetuses and Z-scores were calculated. In normal fetuses, a significant increase of the IT-, the CM- and the PFF-area was found as a sign of the expanding posterior fossa. The mean PFF-area increased from 8.55 to 29.72 mm(2) in the observation period. Fetuses with open spina bifida had reduced fluid in the posterior fossa with values ranging between 2.39 and 5.08 mm(2) and significantly lower Z-scores. Fetuses with open spina bifida have an abnormally small posterior fossa at 11-13 weeks' and in cases where the cerebrospinal fluid is still present, the fluid area in the midsagittal plane is reduced when compared to normal fetuses. Area fluid assessment can be an additional useful measurement in suspicious cases for open spina bifida in early gestation. © 2015 S. Karger AG, Basel.

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

    Science.gov (United States)

    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.

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

    Science.gov (United States)

    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

  19. Memory and selective learning in children with spina bifida-myelomeningocele and shunted hydrocephalus: A preliminary study

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    Vachha Behroze

    2005-11-01

    Full Text Available Abstract Background Selective learning is the ability to select items of relevance from among less important items. Limited evidence exists regarding the efficiency with which children with spina bifida-myelomeningocele and shunted hydrocephalus (SB/SH are able to learn information. This report describes initial data related to components of learning and metacognitive skills in children with SB/SH. Methods Twenty six children with SB/SH and 26 controls (age: 7 – 16 y with average intelligence, and monolingual English-speaking backgrounds participated in the study. Exclusion criteria for the SB/SH group were: prior history of shunt infection, history of seizure or shunt malfunction within the previous three months, prior diagnoses of attention disorders and/or clinical depression. Children were presented lists of words with equal exemplars each of two distinct semantic categories (e.g. fruits, animals, and told to make as high a score as possible by learning the words. The value of the words was designated by category membership (e.g. animals = low value; fruits = high value. The total number of words learned across three learning trials was used to determine memory span. Selective learning efficiency (SLE was computed as the efficiency with which items of greater value were selectively learned across three trials. Results Children with SB/SH did worse than controls on memory span (P Conclusion Success in school is often dependent on the ability to recall important facts selectively and ignore less important information. Children with SB/SH in our study had a poor memory span and were unable to monitor and report an efficient and workable metacognitive strategy required to remember a list of words. Preliminary findings may begin to explain our previous clinical and research findings wherein children with SB/SH often focus on extraneous details, but demonstrate difficulty remembering the main gist of a story/event.

  20. Quality of Life Assessment in Spina Bifida for Children (QUALAS-C): Development and Validation of a Novel Health-related Quality of Life Instrument.

    Science.gov (United States)

    Szymanski, Konrad M; Misseri, Rosalia; Whittam, Benjamin; Yang, David Y; Raposo, Sonia-Maria; King, Shelly J; Kaefer, Martin; Rink, Richard C; Cain, Mark P

    2016-01-01

    To develop and validate a self-reported health-related QUAlity of Life Assessment in Spina bifida for Children (QUALAS-C). We drafted a 27-question pilot instrument using a patient-centered comprehensive item generation and refinement process. It was administered to a sample of children 8-12 years old with spina bifida (SB) recruited online via social media and in person at an outpatient SB clinic (January 2013-September 2014). Healthy controls were recruited at routine pediatrician visits. Validation and final questions were determined based on clinical relevance, high loadings on factor analysis, and domain psychometrics. Children with SB also completed the validated generic Kidscreen-27 instrument. Median age of 150 participants was 9.6 years (60.7% male, 72.7% Caucasian), similar to 46 controls (P ≥ .10). There were 97 online and 53 clinic participants (89.0% and 84.2% of eligible, respectively). Face and content validities of the 2-domain, 10-question QUALAS-C were established by patients, parents, and experts. Internal consistency and test-retest reliability was high for the Esteem & Independence and Bladder & Bowel domains (Cronbach's alpha: 0.72-0.76, ICC: 0.74-0.77). Correlations between QUALAS-C domains were low (r = 0.51), indicating that QUALAS-C can differentiate between two distinct health-related quality of life components. Correlations between QUALAS-C and Kidscreen-27 were also low (r ≤ 0.44). QUALAS-C scores were significantly lower in children with SB than without (P < .0001). QUALAS-C is a short, valid health-related quality of life tool for children with SB. It will be useful in clinical and research settings. Copyright © 2015 Elsevier Inc. All rights reserved.

  1. Risk of Spina Bifida and Maternal Cigarette, Alcohol, and Coffee Use during the First Month of Pregnancy

    Directory of Open Access Journals (Sweden)

    Martha M. Werler

    2013-08-01

    Full Text Available 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.

  2. Bluish Discolouration of Urine Drainage Tube and Bag in a Female Patient with Spina Bifida, Paraplegia, and Suprapubic Cystostomy

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    Subramanian Vaidyanathan

    2007-01-01

    Full Text Available We present a female patient with spina bifida, paraplegia, suprapubic cystostomy, and chronic constipation, who became anxious when she noticed a bluish discolouration of her urine drainage system. Urine microbiology revealed growth of Providencia stuartii and Staphylococcus aureus. There were no systemic features of infection and, therefore, antibiotics were not prescribed for asymptomatic bacteriuria. This patient was advised to change the urine bag every day, and was prescribed senna to facilitate bowel evacuation. She was reassured that bluish discolouration of the urine drainage tube and bag was a transient, benign phenomenon and not indicative of any underlying pathology. Over the next 7 days, the bluish discolouration gradually faded away. Clinical characteristics of patients who are likely to develop this phenomenon and the underlying biochemical mechanism for bluish discolouration of the urine drainage system are discussed in brief.

  3. The National Spina Bifida Patient Registry: profile of a large cohort of participants from the first 10 clinics.

    Science.gov (United States)

    Sawin, Kathleen J; Liu, Tiebin; Ward, Elisabeth; Thibadeau, Judy; Schechter, Michael S; Soe, Minn M; Walker, William

    2015-02-01

    To use data from the US National Spina Bifida Patient Registry (NSBPR) to describe variations in Contexts of Care, Processes of Care, and Health Outcomes among individuals with spina bifida (SB) receiving care in 10 clinics. Reported here are baseline cross-sectional data representing the first visit of 2172 participants from 10 specialized, multidisciplinary SB clinics participating in the NSBPR. We used descriptive statistics, the Fisher exact test, χ(2) test, and Wilcoxon rank-sum test to examine the data. The mean age was 10.1 (SD 8.1) years with slightly more female subjects (52.5%). The majority was white (63.4%) and relied upon public insurance (53.5%). One-third had sacral lesions, 44.8% had mid-low lumbar lesions, and 24.9% had high lumbar and thoracic lesions. The most common surgery was ventricular shunt placement (65.7%). The most common bladder-management technique among those with bladder impairment was intermittent catheterization (69.0%). Almost 14% experienced a pressure ulcer in the last year. Of those ages 5 years or older with bowel or bladder impairments, almost 30% were continent of stool; a similar percentage was continent of urine. Most variables were associated with type of SB diagnosis. The NSBPR provides a cross section of a predominantly pediatric population of patients followed in specialized SB programs. There were wide variations in the variables studied and major differences in Context of Care, Processes of Care, and Health Outcomes by type of SB. Such wide variation and the differences by type of SB should be considered in future analyses of outcomes. Copyright © 2015 Elsevier Inc. All rights reserved.

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

    Science.gov (United States)

    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 contracture at the post-treatment evaluation, t (7) =2.6, p 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.

  5. Assessment of adherence with multiple informants in pre-adolescents with spina bifida: initial development of a multidimensional, multitask parent-report questionnaire.

    Science.gov (United States)

    Holmbeck, G N; Belvedere, M C; Christensen, M; Czerwinski, A M; Hommeyer, J S; Johnson, S Z; Kung, E

    1998-06-01

    Adherence to medical regimens was assessed in 67 pre-adolescents with spina bifida (8- and 9-year-olds; 37 boys, 30 girls), with mother, father, teacher, and health professional report. The Parent-Report of Medical Adherence in Spina Bifida Scale (PROMASB) was developed and includes multidimensional scales for the following tasks: catheterization, bowel care, skin care, medication, and ambulation. With few exceptions, the PROMASB has adequate psychometric properties. However, findings revealed modest to low correlations between respondents. Mothers and fathers reported significantly more noncompliance than teachers and health professionals. For the most part, all informants reported that most children were compliant across all tasks. Additional analyses based on qualitative data suggest that parents attribute compliance difficulties to motivational as well as attentional-memory factors.

  6. Effect of pulsed Nd:YAG laser in the treatment of neuropathic foot ulcers in children with spina bifida: a randomized controlled study.

    Science.gov (United States)

    Ebid, Anwar Abdelgayed; El-Kafy, Ehab Mohame Abd; Alayat, Mohamed Salaheldien Mohamed

    2013-12-01

    This study assessed the effects of pulsed Nd:YAG laser treatment of neuropathic foot ulcers in children with spina bifida. Children with spina bifida face increased risk for developing neuropathic foot ulcers. In a randomized controlled trial, 39 children and adolescents (ages 6-15 years) with spina bifida and stage III neuropathic foot ulcers were randomly assigned to the laser group or the placebo laser group. The former received pulsed Nd:YAG laser treatments (i.e., total energy of 300-350 J during three sessions/week) plus standard wound care, and the latter received sham laser treatments plus standard wound care. Wound size and wound appearance were assessed for all patients at the beginning of the treatment, after 5 weeks, and after 10 weeks. The decrease in wound surface area at 5 and 10 weeks post- treatment was significantly greater in the laser group (i.e., 2.44 ± 0.33 and 0.29 ± 0.25 cm(2), respectively) than in the placebo group (i.e., 3.81 ± 0.18 and 3.24 ± 0.44 cm(2), respectively). Also, the decrease in the total score for the Pressure Sore Status Tool (PSST) at 5 and 10 weeks post-treatment was significantly different for the laser group (i.e., 32.76 ± 2.30 and 17.52 ± 1.66, respectively) than for the placebo group (i.e., 46.50 ± 2.12 and 38.11 ± 3.17, respectively). Treatment with pulsed neodymium:yttrium aluminum garnet (Nd:YAG) laser combined with standard wound care decreases wound size and improves wound appearance for stage III neuropathic foot ulcers in children with spina bifida.

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

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    Nor Linda Abdullah

    2017-12-01

    Full Text Available 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.

  8. In utero Plastic Surgery in Zurich: Successful Use of Distally Pedicled Random Pattern Transposition Flaps for Definitive Skin Closure during Open Fetal Spina Bifida Repair.

    Science.gov (United States)

    Meuli, Martin; Meuli-Simmen, Claudia; Mazzone, Luca; Tharakan, Sasha J; Zimmermann, Roland; Ochsenbein, Nicole; Moehrlen, Ueli

    2017-12-20

    One of the intraoperative challenges of fetal spina bifida repair is skin closure when there is an extended skin defect. Thus, we examined whether distally pedicled random pattern transposition flaps (TFs) are a valid option to overcome this problem. All patients undergoing in utero repair of spina bifida with application of a TF for back skin closure were analyzed focusing on intraoperative flap characteristics and postoperative flap performance. In 30 (70%) of the 43 fetuses a primary skin closure was achieved, in 5 (12%) a skin substitute was used, and in 8 (18%) a TF was applied. Flap raising and insertion was uneventful and perfusion was sufficient in all 8 fetuses (100%). In 3 fetuses (37%) the donor sites were closed primarily, and in 5 (63%) a skin substitute was used for coverage. At birth, 7 flaps were viable and provided robust skin coverage over the center of the former lesion. Complications included a small skin defect with CSF leakage in 1 patient (13%). During open fetal spina bifida repair, TFs can be safely and efficaciously used to obtain solid and durable skin coverage over lesions too large to allow conventional primary skin closure. © 2017 S. Karger AG, Basel.

  9. A Novel Occulta-Type Spina Bifida Mediated by Murine Double HeterozygotesEphA2andEphA4Receptor Tyrosine Kinases.

    Science.gov (United States)

    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.

  10. Large subcapsular hematoma following ureteroscopic laser lithotripsy of renal calculi in a spina bifida patient: lessons we learn

    Directory of Open Access Journals (Sweden)

    Vaidyanathan S

    2016-08-01

    Full Text Available Subramanian Vaidyanathan,1 Azi Samsudin,2 Gurpreet Singh,3 Peter L Hughes,4 Bakul M Soni,1 Fahed Selmi1 1Regional Spinal Injuries Center, Southport and Formby District General Hospital, Southport, UK; 2Department of Urology, Whiston Hospital, Prescot, UK; 3Department of Urology, 4Department of Radiology, Southport and Formby District General Hospital, Southport, UK Introduction: Paraplegic patients are at greater risk of developing complications following ureteroscopic lithotripsy because of urine infection associated with neuropathic bladder, difficulties in access due to altered anatomy of urinary bladder and urethra, spinal curvature, spasticity, and contractures. We report the occurrence of large subcapsular hematoma following ureteroscopy and discuss lessons we learn from this case.Case report: A 48-year-old male patient with spina bifida underwent ureteroscopy with laser lithotripsy and ureteric stenting for left ureteric stone and staghorn calculus with hydronephrosis; laser lithotripsy was repeated after 3 months; both procedures were performed by a senior urologist and did not result in any complications. Ureteroscopic laser lithotripsy was performed 5 months later by a urological trainee; it was difficult to negotiate the scope as vision became poor because of bleeding (as a result of the procedure. Postoperatively, hematuria persisted; temperature was 39°C. Cefuroxime was given intravenously followed by gentamicin for 5 days; hematuria subsided gradually; he was discharged home. Ten days later, this patient developed temperature, the urine culture grew Pseudomonas aeruginosa, and ciprofloxacin was given orally. Computed tomography (CT of the urinary tract, performed 4 weeks after ureteroscopy, revealed a 9×7 cm subcapsular collection on the left kidney compressing underlying parenchyma. Percutaneous drainage was not feasible because of severe curvature of spine. Isotope renogram revealed deterioration in left renal function from 30

  11. Development and validation of the Peer Interaction Macro-Coding System Scales (PIMS): a new tool for observational measurement of social competence in youth with spina bifida.

    Science.gov (United States)

    Holbein, Christina E; Zebracki, Kathy; Holmbeck, Grayson N

    2014-12-01

    Many children with chronic health conditions encounter enduring difficulties in their peer interactions and friendships. This study aimed to create and validate scales derived from an observational coding system (i.e., Peer Interaction Macro-Coding System, or PIMS) in a sample of children with spina bifida and their peers. Participants were 106 target child-peer dyads who completed a battery of questionnaires and interviews and were videotaped performing 4 interaction tasks, which were then coded across multiple domains of social functioning. Five scales (i.e., Control, Prosocial Skills, Positive Affect, Conflict, and Dyadic Cohesion) were rationally derived based on a review of the literature and a panel of experts. Internal consistency and interrater reliability at the scale level were good to excellent for all 5 scales. Interscale correlations were in the low-to-moderate range for 4 of the scales, although the Dyadic Cohesion Scale was highly correlated with two other scales and was subsequently dropped. Convergent validity and discriminant validity were established by examining the 4 remaining scales in association with comparable questionnaire and interview data. The 4 PIMS scales appear to be reliable and valid measures of social competence and may enhance future multimethod research efforts aimed at learning more about peer interactions and overall social competence. (c) 2014 APA, all rights reserved.

  12. Risk of fracture prevention in spina bifida patients: correlation between bone mineral density, vitamin D, and electrolyte values.

    Science.gov (United States)

    Martinelli, V; Dell'Atti, C; Ausili, E; Federici, E; Magarelli, N; Leone, A; Massimi, L; Di Rocco, C; Bonomo, L; Rendeli, C

    2015-08-01

    The aim of our study was to investigate the relationship between bone mineral density (BMD), vitamin D, and electrolyte blood values in patients with spina bifida, to find a possible therapeutic regimen and an intervention to reduce the risk of fractures in this population. BMD values were measured in 49 patients (32 females, 17 males; aged 14.1 ± 3.86 years; range 5-20 years) using dual-energy X-ray absorptiometry (DEXA) and were analyzed based on sex, the level of spinal involvement, vitamin D, and electrolyte values, physical activity, body mass index (BMI), and ambulatory status [patients were divided into three subgroups: full-time wheelchair (FTWC), limited ambulator (LA), and full-time ambulator (FTA)]. These data were analyzed considering sex-, age-, and BMD-matched values and compared with those of normal population. BMD was significantly lower in these patients compared with that in the general healthy population (Z-score: -1.2 ± 1.8); in particular, females had Z-score values significantly lower that of the males (Z-score: -2.43 ± 2.02; P electrolyte values than the healthy population; hence, they have an increase risk of developing pathological fractures. Vitamin D supplementation for a longer time period could reduce this risk.

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

    Science.gov (United States)

    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.

  14. Oral health status of a sample of Venezuelan patients with spina bifida. A cross-sectional study

    Directory of Open Access Journals (Sweden)

    Mariana Morales-Chávez

    2016-09-01

    Full Text Available Spina bifida (SB is a congenital malformation of the spinal cord associated with several vertebral abnormalities caused by incomplete neural tube closure. The aim of this study is to report on the oral health status of a sample of Venezuelan patients with SB. Materials and Methods: An observational cross-sectional study was performed in 30 patients with SB to determine their oral health status and other variables of interest. Results: A 46.7% of the patients had a history of caries: 22% in the 1-4 year group, 71.4% in the 5-7 year group, and 100% in the 8-16 year group. The dmft and DMFT indices were 1.55 and 3.50, respectively. A 46.7% of the patients had gingivitis, 30% had dental calculus, with an OHI-S of 2. The 83% had Angle Class II and 17%, Angle Class I. A 40% had parafunctional habits such as digital suction, use of pacifiers and onicophagia. The 70% had deep palate. Conclusion: Patients with SB have specific oral characteristics and risk factors that must be taken into account in dental treatments to provide adequate care and improve their quality of life

  15. Percutaneous minimally invasive fetoscopic surgery for spina bifida aperta. Part III: neurosurgical intervention in the first postnatal year.

    Science.gov (United States)

    Graf, K; Kohl, T; Neubauer, B A; Dey, F; Faas, D; Wanis, F A; Reinges, M H T; Uhl, E; Kolodziej, M A

    2016-02-01

    To evaluate the need for postnatal neurosurgical intervention after fetoscopic patch coverage of spina bifida aperta (SBA). This was a retrospective analysis of a cohort of 71 fetuses which underwent minimally invasive fetoscopic patch coverage of SBA between 21 + 0 and 29 + 1 weeks of gestation. Postnatal neurosurgical procedures were classified into two types: re-coverage of the SBA within the first 3 months following birth, and shunt placement as treatment of associated hydrocephalus within the first year. Location of the SBA was lumbosacral in 59 cases, lumbar in seven, thoracic in three and sacral in two. In total, 20/71 (28%) patients underwent early postnatal neurosurgical intervention by means of re-coverage of the SBA. This was performed because of cerebrospinal fluid leakage in seven (35%), adhesions with functional deterioration in three (15%), incomplete coverage in five (25%) and skin defect in five (25%) cases. Ventriculoperitoneal shunt placement within 1 year was required in 32 (45%) cases and was preceded by ventriculostomy in two. Three (4%) infants needed Chiari decompression surgery in the first 12 months following birth, because of syringomyelia or gait disturbance. Fetoscopic patch coverage of SBA may require postnatal re-coverage in some cases. In most cases, conservative wound treatment shows good results, without requiring neurosurgical intervention. The low 1-year-shunt rate is comparable to data of the Management of Myelomeningocele Study and lower compared with published data of patients with postnatal only coverage of SBA. Copyright © 2015 ISUOG. Published by John Wiley & Sons Ltd.

  16. Fatores genéticos e ambientais associados a espinha bífida Genetic and ambient factors and profile of the newborns with spina bifida

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    Cristiane de Jesus da Cunha

    2005-05-01

    Full Text Available OBJETIVOS: analisar a freqüência e os fatores associados à ocorrência da espinha bífida. MÉTODOS: os dados foram obtidos por meio de entrevista de 47 casos e 47 controles, nascidos nas cinco maternidades da cidade de Pelotas, durante o período de 1 de Janeiro de 1990 a 31 de Dezembro de 2003. É estudo com delineamento de caso-controle, de base populacional que abrangeu todos os nascimentos hospitalares. O controle foi o neonato normal que nasceu após cada caso com malformação. Todos os dados foram obtidos mediante questionário-modelo. A análise do planejamento de análise de dados incluiu o uso do teste t de Student, chi² e odds ratio. RESULTADOS: ocorreram aproximadamente 77.000 nascimentos nesse período. Desses, 1.043 (1,3% apresentaram algum tipo de malformação congênita. Dentre essas, 47 de 162 anomalias do fechamento do tubo neural foram diagnosticadas como espinha bífida. Foram encontradas diferenças significativas quanto ao número de natimortos prévios, bem como proporção superior de casos de espinha bífida em recém-nascidos do sexo feminino. Neste estudo, muitos fatores como o uso de medicamentos; doenças agudas; afecções crônicas; número de gestações; idade, escolaridade e ocupação dos pais, entre outros, não mostraram associação com o nascimento de recém-nascido com espinha bífida. CONCLUSÕES: a espinha bífida deve ser considerada como importante fator de risco para a morbidade perinatal, e sua ocorrência está associada a um histórico gestacional de natimortos prévios.PURPOSES: to analyze the frequency, associated risk factors for the occurrence of spina bifida and differences between the newborns carrying this malformation and the newborns' morbidities. METHODS: data were obtained through interview of 47 cases and 47 controls, born in the five maternities of the city of Pelotas, during the period from January 1, 1990 to December 31, 2003. This is a population-based case-control study

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

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

    2016-03-18

    Background: 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. Methods: The prevalence of neonatal malformations was studied retrospectively from January 2000 till December 2010 using 4 sources from Leipzig, Saxony, Saxony-Anhalt and Germany. Results: 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). Conclusion: 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.

  18. Validity and Reliability of Skill-Related Fitness Tests for Wheelchair-Using Youth With Spina Bifida.

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    Bloemen, Manon A; Takken, Tim; Backx, Frank J; Vos, Marleen; Kruitwagen, Cas L; de Groot, Janke F

    2017-06-01

    To determine content validity of the Muscle Power Sprint Test (MPST), and construct validity and reliability of the MPST, 10×5 Meter Sprint Test (10×5MST), slalom test, and One Stroke Push Test (1SPT) in wheelchair-using youth with spina bifida (SB). Clinimetric study. Rehabilitation centers, SB outpatient services, and private practices. A convenience sample of children and adolescents (N=53; 32 boys, 21 girls; age range, 5-19y) with SB who use a manual wheelchair. Participants were recruited through rehabilitation centers, SB outpatient services, pediatric physical therapists, and the BOSK (Association of Physically Disabled Persons and their Parents). Not applicable. Construct validity of the MPST was determined by comparing results with the arm-cranking Wingate Anaerobic Test (WAnT) using paired t tests and Pearson correlation coefficients, while content validity was assessed using time-based criteria for anaerobic testing. Construct validity of the 10×5MST, slalom test, and 1SPT was analyzed by hypothesis testing using Pearson correlation coefficients and multiple regression. For reliability, intraclass correlation coefficients (ICCs) and smallest detectable changes (SDCs) were calculated. For the MPST, the mean ± SD exercise time of 4 sprints was 28.1±6.6 seconds. Correlations between the MPST and arm-cranking WAnT were high (r>.72, P.95), but the SDCs varied widely. The MPST is a valid and reliable test in wheelchair-using youth with SB for measuring anaerobic performance. The 10×5MST and slalom test are valid and reliable for measuring agility. For the 1SPT, both validity and reliability are questionable. Copyright © 2016 American Congress of Rehabilitation Medicine. Published by Elsevier Inc. All rights reserved.

  19. Longitudinal study on specific IgE against natural rubber latex, banana and kiwi in patients with spina bifida.

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    Cremer, R; Mennicken, O

    2011-11-01

    Up to 2 out of 3 spina bifida (sb) patients with natural rubber latex (NRL) antibodies (ab) have crossreacting IgE-ab against tropical fruit, due to structural homologies between several NRL antigens and allergenic fruit proteins. It is essential to investigate whether the patients were first sensitized against NRL or fruit, to give recommendations for an evidence-based prophylaxis. We investigated sera of 96 sb patients for specific IgE ab against NRL, banana and kiwi as examples for crossreacting fruit by FEIA (ImmunoCAP System, Phadia). These tests were repeated up to 3 times (mean after 2 years, maximum after 7 years). In the first testing only 2 of 50 NRL-IgE negative patients (4%) had ab against banana or kiwi. 4 of the 46 NRL-IgE positive patients (8%) showed ab against banana (2) or kiwi (2), 3 (7%) against both fruit. Symptoms of fruit allergy were presented by 3 patients, all symptomatic patients had high levels of specific fruit-ab. In the follow-up study 2 patients with low sensitization against NRL lost their NRL ab and their fruit ab, another 2 only the fruit ab, whereas 4 NRL-sensitized patients newly developed ab against banana and 1 against kiwi. Only 2 patients developed ab against fruit without being sensitized against NRL. 7 out of 10 patients with banana and kiwi ab were atopics. In most cases the sensitization against fruit follows the NRL sensitization. There is no need to recommend sb patients without NRL sensitization to primarily avoid tropical fruit. © Georg Thieme Verlag KG Stuttgart · New York.

  20. Sexuality in relation to independence in daily functions among young people with spina bifida living in Israel.

    Science.gov (United States)

    Shoshan, Levana; Ben-Zvi, Dvora; Meyer, Shirley; Katz-Leurer, Michal

    2012-01-01

    To describe the basic knowledge of body anatomy and functioning, and the sexual knowledge of young adults with spina bifida (SB) and to investigate the associations between independence in daily functions and communication skills on the one hand and sexual knowledge and activity on the other among young people with SB. Twenty-five patients with SB over the age of 16 years, who are under follow-up at the Alyn Children's Rehabilitation Hospital in Jerusalem, Israel, were enrolled in the study. Each patient was interviewed individually using the Sexual Knowledge Interview Schedule and the Functional Independence Measure. There were 17 females and eight males aged 16-35 years, eight of the 25 with a lesion level of L2 and above. At the time of the interview three of the participants had a partner (12%) and seven (28%) indicated that they had had intimate sexual relationships. One subject answered correctly on all questions related to body anatomy, and seven answered correctly on all questions related to body part functions. Positive and significant associations were noted between motor abilities, sphincter management and sexual knowledge (r(p) 0.44-0.65). Knowledge of anatomy and function associated positively with sexual knowledge and experience (r(p) 0.48-0.59). Young adults with SB who live in Israel exhibit a relatively low level of sexual experience. Since knowledge is associated with sexuality, it would be reasonable therefore to provide a structured educational program for this group of young adults, targeted to their unique disability. The rehabilitation nurse is in an optimal position to provide such education given her specialized training in sphincter management and her ongoing holistic view of these young patients. © 2012 Association of Rehabilitation Nurses.

  1. Spondylolysis and spina bifida occulta in pediatric patients: prevalence study using computed tomography as a screening method.

    Science.gov (United States)

    Urrutia, Julio; Cuellar, Jorge; Zamora, Tomas

    2016-02-01

    The prevalence of spondylolysis reported from radiograph-based studies has been questioned in recent computed tomography (CT)-based studies in adults; however, no new data are available in pediatric patients. Spina bifida occulta (SBO), which has been associated to spondylolysis, may be increasing its prevalence, according to recent studies in adults in the last decades, but without new data in pediatric patients. We aimed to determine the prevalence of spondylolysis and SBO in pediatric patients using abdomen and pelvis CT as a screening tool. We studied 228 patients 4-15 years old (107 males), who were evaluated with abdomen and pelvis CT scans for reasons not related to the spine. The entire lumbo-sacral spine was evaluated to detect the presence of spondylolysis and SBO. We compared the prevalence of spondylolysis in patients with and without SBO. A logistic regression analysis was performed to determine the effect of age and sex as independent predictors of spondylolysis and SBO. The prevalence of spondylolysis was 3.5 % (1.1-5.9 %); 2/8 patients presented with olisthesis, both with grade I slip. The prevalence of SBO was 41.2 % (34.8-59.2 %) (94 patients). Spondylolysis was not more frequent in patients with SBO than in patients without SBO. Male sex and decreasing age independently predicted the presence of SBO, but not of spondylolysis. We observed a 3.5 % prevalence of spondylolysis and a 41.2 % prevalence of SBO. SBO was significantly more frequent in males and younger patients.

  2. The use of TheraTogs versus twister cables in the treatment of in-toeing during gait in a child with spina bifida.

    Science.gov (United States)

    Richards, Amber; Morcos, Sally; Rethlefsen, Susan; Ryan, Deidre

    2012-01-01

    To present the effects of TheraTogs and twister cables (TCs) on in-toeing during gait in a child with spina bifida while comparing overall parent and patient satisfaction. The participant was a 2-year-old girl with L4 spina bifida with bilateral in-toeing during gait. The child was given a 6-week intervention of TheraTogs followed by 6 weeks of TCs. Kinematic data indicated optimal foot progression with the use of TCs, achieved by the rotation of the lower leg. Gait data for the use of TheraTogs indicated improved foot progression with external rotation at the hips. Gait characteristics indicated improved gait velocity in TheraTogs, but stride length was better with TCs. The parent reported satisfaction and preference for TheraTogs. As the first step in investigating the 2 interventions, both TheraTogs and TCs were effective in management of in-toeing for the child but parental preference favored TheraTogs.

  3. US Pilot Study of Lumbar to Sacral Nerve Rerouting to Restore Voiding and Bowel Function in Spina Bifida: 3-Year Experience

    Directory of Open Access Journals (Sweden)

    Kenneth M. Peters

    2014-01-01

    Full Text Available Objective. To report our experience with creating a skin-central nervous system-bladder reflex arc with intradural lumbar to sacral motor root microanastomosis to restore bladder/bowel function in spina bifida patients. Methods. Urinary/bowel changes from baseline to three years were evaluated with questionnaires, voiding diaries, urodynamics (UDS, and renal function studies. Treatment response was defined as CIC ≤ once/day with stable renal function, voiding efficiency > 50%, and no worsening of motor function. Results. Of 13 subjects (9 female, median age 8 years, 3 voided small amounts at baseline, one voided 200 cc (voiding efficiency 32%, 4/13 reported normal bowels, and 2/13 were continent of stool. Postoperatively, all had transient lower extremity weakness; one developed permanent foot drop. Over three years, renal function remained stable and mean maximum cystometric capacity (MCC increased (P=0.0135. In the 10 that returned at 3 years, 7 were treatment responders and 9 had discontinued antimuscarinics, but most still leaked urine. Only 2/8 with baseline neurogenic detrusor overactivity (NDO still had NDO, all 3 with compliance <10 mL/cm H2O had normalized, 7/10 considered their bowels normal, 5/10 were continent of stool, and 8/10 would undergo the procedure again. Conclusion. Lumbar to sacral nerve rerouting can improve elimination in spina bifida patients. This trial is registered with ClinicalTrials.gov NCT00378664.

  4. Artificial urinary sphincter in male patients with spina bifida: Comparison of perioperative and functional outcomes between bulbar urethra and bladder neck cuff placement.

    Science.gov (United States)

    Khene, Zine-Eddine; Paret, Fanny; Perrouin-Verbe, Marie-Aime E; Prudhomme, Thomas; Hascoet, Juliette; Nedelec, Mathilde; Kerdraon, Jacques; Menard, Helene; Jezequel, Magali; Le Normand, Loïc; Manunta, Andrea; Game, Xavier; Peyronnet, Benoit

    2017-10-13

    To evaluate the perioperative and long-term functional outcomes of bladder neck and peribulbar cuff placement of an artificial urinary sphincter (AUS) in a population of adult male patients with spinal dysraphism. A retrospective analysis of the French spina bifida (SB) network database was performed. Patients who underwent implantation of an AUS from January 1985 to November 2015 were selected and stratified into two groups according to cuff location: bladder neck vs. bulbar urethra. Explantation-free and revision-free device survivals were estimated using the Kaplan-Meier method and compared using the log rank test. Cox regression models were used to assess prognostic factors of AUS device failure. Sixty-five patients were included. Most patients were not wheelchair-bound. The cuff was implanted around the bulbar urethra in 46 procedures (59%) and around the bladder neck in 32 procedures (41%). Median revision-free device survivals were 11.7 and 14.3 years (p=0.73) and median explantation-free device survivals were 18.5 and 24.5 years (p=0.08) in peribulbar and bladder neck groups respectively. In multivariate analysis, clean-intermittent catheterization was the only predictor of AUS device failure (no influence of cuff location). At the last follow-up, satisfactory continence was similar in both groups (83% vs. 75%, p=0.75). In SB male patients, the morbidity and functional outcomes were similar between bladder neck and bulbar urethra cuff placement but with a trend towards a longer survival without explantation in the bladder neck group. Clean-intermittent catheterization was the only predictor of shorter device survival in multivariate analysis. Copyright © 2017 American Urological Association Education and Research, Inc. Published by Elsevier Inc. All rights reserved.

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

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    English, Lianne; Barnes, Marcia A; Fletcher, Jack M; Dennis, Maureen; Raghubar, Kimberly P

    2010-05-01

    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.

  6. ASSOCIATIONS BETWEEN POLYMORPHISMS WITHIN THE THYMIDYLATE SYNTHASE GENE AND SPINA BIFIDA. (R828292)

    Science.gov (United States)

    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...

  7. JUMONJI GENE AND RISK FOR SPINA BIFIDA AND CONGENITAL HEART DEFECTS. (R828292)

    Science.gov (United States)

    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...

  8. IS SONIC HEDGEHOG (SHH) A CANDIDATE GENE FOR SPINA BIFIDA? (R828292)

    Science.gov (United States)

    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...

  9. Hypertension and Spina Bifida

    Science.gov (United States)

    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 ...

  10. A detailed musculoskeletal study of a fetus with anencephaly and spina bifida (craniorachischisis), and comparison with other cases of human congenital malformations.

    Science.gov (United States)

    Alghamdi, Malak A; Ziermann, Janine M; Gregg, Lydia; Diogo, Rui

    2017-06-01

    Few descriptions of the musculoskeletal system of humans with anencephaly or spina bifida exist in the literature. Even less is published about individuals in which both phenomena occur together, i.e. about craniorachischisis. Here we provide a detailed report on the musculoskeletal structures of a fetus with craniorachischisis, as well as comparisons with the few descriptions for anencephaly and with musculoskeletal anomalies found in other congenital malformations. We focused in particular on the comparison with trisomies 13, 18, and 21 because neural tube defects have been associated with such chromosomal defects. Our results showed that many of the defects found in the fetus with craniorachischisis are similar not only to anomalies previously described in the available works on musculoskeletal phenotypes seen in fetuses with anencephaly and spina bifida, but also to a wide range of other different conditions/syndromes including trisomies 13, 18 and 21, and cyclopia. The fact that similar anomalies are seen commonly not only in a wide range of different syndromes, but also as variants of the normal human population and as the 'normal' phenotype of other animals, supports Pere Alberch's unfortunately named idea of a 'logic of monsters'. That is, it supports the idea that development is so constrained that both in 'normal' and abnormal development one sees certain outcomes being produced again and again because ontogenetic constraints only allow a few possible outcomes, thus also leading to cases where the anatomical defects of some organisms are similar to the 'normal' phenotype of other organisms. In fact, this applies not only to specific anomalies but also to general patterns, such as the fact that in pathological conditions affecting different regions of the body, one consistently sees more defects on the upper limbs than on the lower limbs. Such general patterns are, again, seen in the fetus examined for this study, which had 29 muscle anomalies on the right

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

    Science.gov (United States)

    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).

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

    Science.gov (United States)

    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

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

    Science.gov (United States)

    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

  14. Ultrasound in Prenatal Diagnostics and Its Impact on the Epidemiology of Spina Bifida in a National Cohort from Denmark with a Comparison to Sweden

    Directory of Open Access Journals (Sweden)

    Charlotte Rosenkrantz Bodin

    2018-01-01

    Full Text Available Objectives. The aim of this study was to assess the incidence, the prenatal detection rate by ultrasound, and the pregnancy outcome of spina bifida (SB in Denmark (DK in 2008–2015 and to compare results to national data from Sweden. Methods. Data were retrieved from the Danish Fetal Medicine Database, which includes International Classification of Diseases- (ICD- 10 codes for pre- or postnatally diagnoses and pregnancy outcome. Missing data were obtained from the National Patient Register. Livebirth data with myelomeningocele (MMC in Sweden were obtained from different databases. Results. There were 234 cases with SB in DK in 2008–2015. The incidence of SB was 4.9 : 10,000; 89% were detected with ultrasound prior to week 22; 90% of these pregnancies were terminated (ToP; 91% were isolated malformations of which 11% showed abnormal karyotype. The incidence of newborns with MMC was 1.3 : 10,000 in Sweden. Conclusions. Ultrasound screening has a major impact on the epidemiology of SB. The prenatal detection rate of SB was high, and most SB cases were isolated and had a normal karyotype. Among women with a prenatal fetal diagnosis of SB, 90% chose to have ToP. The incidence of newborns with SB was higher in Sweden than in DK.

  15. Observed macro- and micro-level parenting behaviors during preadolescent family interactions as predictors of adjustment in emerging adults with and without spina bifida.

    Science.gov (United States)

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

    2015-01-01

    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). 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). 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 Parenting behaviors related to autonomy have long-term consequences for adjustment in emerging adults with and without SB. © The Author 2014. 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.

  16. 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.

    Science.gov (United States)

    Kancherla, Vijaya; Oakley, Godfrey P

    2017-12-01

    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.

  17. A qualidade de vida de jovens portadores de espinha bífida brasileiros e norte-americanos The quality of life of Brazilian and North-american adolescents with spina bifida

    Directory of Open Access Journals (Sweden)

    Ana Helena Rotta Soares

    2008-12-01

    Full Text Available A pesquisa tem como objetivo explorar a qualidade da vida de jovens portadores de espinha bífida em duas culturas, brasileira e norte-americana, norteada pelo conceito de qualidade de vida. O estudo, de caráter qualitativo, utilizou entrevistas semi-estruturadas e grupos focais em duas unidades de saúde especializadas no tratamento de jovens com espinha bífida, uma no Brasil e a segunda nos Estados Unidos. Os discursos dos jovens em questão refletem a necessidade de categorias mais englobantes que não remetam a uma pulverização da experiência de vida. Os resultados tornam evidente uma estrutura de desigualdade nas interações mistas e demonstram que o estigma se encontra presente em todas as dimensões da vida dos sujeitos, interferindo na inserção social, construção subjetiva, e auto-estima do jovem. Foram identificados dois campos de referência para a noção de qualidade de vida: (1 o micropolítico, que se refere aos valores, visões, crenças e expectativas sociais construídos a partir dos encontros face a face; e (2 o macropolítico, que diz respeito ao espaço público, ao âmbito da democracia dos direitos humanos.The purpose of the present research is to explore and describe the quality of life of adolescents in two different cultural environments, the Brazilian and the North American. The point of reference of the investigation is the dimension encompassing the concept of quality of life. This qualitative research utilized semi-structured interviews and focal groups in two health-care units specialized in the care of youths with spina bifida, one in Brazil and another in the USA. The discourses reflected the need for more comprehensive categories of quality of life, not pulverizing the life experience. The results reveal inequality in the interactions between the healthy and the disabled and show that the stigma permeates all dimensions of the life of these individuals, interfering in their social inclusion, as well as

  18. EVALUATION OF THE CITED2 GENE AND RISK FOR SPINA BIFIDA AND CONGENITAL HEART DEFECTS. (R828292)

    Science.gov (United States)

    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...

  19. RISK FACTORS FOR NEURAL TUBE DEFECTS: ASSOCIATIONS BETWEEN UNCOUPLING PROTEIN 2 POLYMORPHISMS AND SPINA BIFIDA. (R828292)

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    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...

  20. Ambulatory patients with spina bifida are 50% more likely to be fecally continent than non-ambulatory patients, particularly after a MACE procedure.

    Science.gov (United States)

    Large, T; Szymanski, K M; Whittam, B; Misseri, R; Chan, K H; Kaefer, M; Rink, R C; Cain, M P

    2017-02-01

    While fecal incontinence (FI) affects many patients with spina bifida (SB), it is unclear if it is associated with ambulatory status. To determine if ambulatory status is associated with FI, and a potential confounding variable, in patients with and without a Malone antegrade continence enema (MACE). This study retrospectively reviewed of patients aged ≥8 years with SB who were enrolled in an international quality of life study at outpatient visits (January 2013 to September 2015). Patients reported FI over the last 4 weeks (strict criteria: any FI/accidents vs no FI). Patients unable to self-report FI due to developmental delay were excluded. Those who were ambulating outdoors with/without braces/crutches were considered community ambulators. Non-parametric tests and logistic regression were used for analysis. A total of 115 patients with a MACE and 57 without a MACE were similar in gender (P = 0.99), ventriculoperitoneal status (P = 0.15) and age (16.0 vs 15.4 years, P = 0.11). Median ages at MACE procedure and follow-up were 7.0 and 8.2 years, respectively, and all used the MACE ≥3x/week. They were less likely to be ambulators (54.8 vs 71.9%, P = 0.03). In patients with a MACE, 64 (55.7%) had total fecal continence, compared with 29 (50.9%) without a MACE (P = 0.62). In the MACE group, ambulators were more likely to be continent compared with non-ambulatory patients (65.1 vs 44.2%, P = 0.04) (Table). Although not statistically significant, a similar difference was observed in the non-MACE group (56.1 vs 37.5%, P = 0.25). In the MACE group, continent and incontinent patients, regardless of ambulatory status, had similar rates of MACE use, additive use and time for MACE completion (P ≥ 0.43). MACE ambulators were more likely to be continent than MACE non-ambulators on multivariate analysis (OR 3.26, P = 0.01). This study reported higher than typical FI rates since: (1) it used a stringent definition of total fecal continence; (2) patients