spinal dysraphism

Summary

Summary: Congenital defects of closure of one or more vertebral arches, which may be associated with malformations of the spinal cord, nerve roots, congenital fibrous bands, lipomas, and congenital cysts. These malformations range from mild (e.g., SPINA BIFIDA OCCULTA) to severe, including rachischisis where there is complete failure of neural tube and spinal cord fusion, resulting in exposure of the spinal cord at the surface. Spinal dysraphism includes all forms of spina bifida. The open form is called SPINA BIFIDA CYSTICA and the closed form is SPINA BIFIDA OCCULTA. (From Joynt, Clinical Neurology, 1992, Ch55, p34)

Top Publications

  1. Zegers B, Uiterwaal C, Kimpen J, van Gool J, de Jong T, Winkler Seinstra P, et al. Antibiotic prophylaxis for urinary tract infections in children with spina bifida on intermittent catheterization. J Urol. 2011;186:2365-70 pubmed publisher
    ..We hypothesized that stopping low dose chemoprophylaxis does not increase the number of urinary tract infections in these patients...
  2. Ahrens K, Yazdy M, Mitchell A, Werler M. Folic acid intake and spina bifida in the era of dietary folic acid fortification. Epidemiology. 2011;22:731-7 pubmed publisher
    ..We evaluated whether intake of folic acid from supplements and diet was associated with a reduction in spina bifida in the setting of folic acid fortification...
  3. Grant R, Heuer G, Carrión G, Adzick N, Schwartz E, Stein S, et al. Morphometric analysis of posterior fossa after in utero myelomeningocele repair. J Neurosurg Pediatr. 2011;7:362-8 pubmed publisher
    ..The authors investigated the effects of antenatal versus postnatal repair of MMC through a quantitative analysis of morphometric changes in the posterior fossa (PF)...
  4. Bamer A, Connell F, Dudgeon B, Johnson K. Frequency of purchase and associated costs of assistive technology for Washington State Medicaid program enrollees with spina bifida by age. Disabil Health J. 2010;3:155-61 pubmed publisher
    ..However, little is known about current use and costs of AT for people with SB, including the cost burden to medical insurance payees...
  5. Armour B, Ouyang L, Thibadeau J, Grosse S, Campbell V, Joseph D. Hospitalization for urinary tract infections and the quality of preventive health care received by people with spina bifida. Disabil Health J. 2009;2:145-52 pubmed publisher
    ..Such complications could be due, in part, to difficulty accessing care or the quality of ambulatory care services received...
  6. Gupta N, Rath G, Prabhakar H, Dash H. Effect of intraoperative dexmedetomidine on postoperative recovery profile of children undergoing surgery for spinal dysraphism. J Neurosurg Anesthesiol. 2013;25:271-8 pubmed publisher
    Smooth recovery from anesthesia is desirable in children undergoing surgery for spinal dysraphism who are nursed in prone position during the postoperative period...
  7. Au K, Ashley Koch A, Northrup H. Epidemiologic and genetic aspects of spina bifida and other neural tube defects. Dev Disabil Res Rev. 2010;16:6-15 pubmed publisher
    ..Future directions such as genomewide association studies (GWAS) and whole exome or even whole genome sequencing are discussed as possible avenues to identify genes that affect risk for human NTDs...
  8. Liptak G, El Samra A. Optimizing health care for children with spina bifida. Dev Disabil Res Rev. 2010;16:66-75 pubmed publisher
    ..Research questions related to the process of care and to specific nonsurgical conditions associated with spina bifida are reviewed in this article...
  9. Lupo P, Symanski E, Waller D, Chan W, Canfield M, Langlois P, et al. Polytomous logistic regression as a tool for exploring heterogeneity across birth defect subtypes: an example using anencephaly and spina bifida. Birth Defects Res A Clin Mol Teratol. 2010;88:701-5 pubmed publisher
    ..Although the validity of using composite phenotypes has been questioned, formal evaluations of the underlying assumption of effect homogeneity across component phenotypes have not been conducted...

More Information

Publications62

  1. Cornips E, Razenberg F, van Rhijn L, Soudant D, van Raak E, Weber J, et al. The lumbosacral angle does not reflect progressive tethered cord syndrome in children with spinal dysraphism. Childs Nerv Syst. 2010;26:1757-64 pubmed publisher
    Our goal was to validate the hypothesis that the lumbosacral angle (LSA) increases in children with spinal dysraphism who present with progressive symptoms and signs of tethered cord syndrome (TCS), and if so, to determine for which ..
  2. de Castro S, Malhas A, Leung K, Gustavsson P, Vaux D, Copp A, et al. Lamin b1 polymorphism influences morphology of the nuclear envelope, cell cycle progression, and risk of neural tube defects in mice. PLoS Genet. 2012;8:e1003059 pubmed publisher
  3. Cate I, Kennedy C, Stevenson J. Disability and quality of life in spina bifida and hydrocephalus. Dev Med Child Neurol. 2002;44:317-22 pubmed
    ..It was concluded that hydrocephalus is just as great a threat to CQOL as spina bifida. Beyond the general effect of condition severity on CQOL, family resources (as measured by the CSES and FNS) represent an additional influence on CQOL...
  4. Edwards R, Witchell C, Pople I. Chronic headaches in adults with spina bifida and associated hydrocephalus. Eur J Pediatr Surg. 2003;13 Suppl 1:S13-7 pubmed
    ..This study aims to evaluate the usefulness of intracranial pressure (ICP) monitoring as a diagnostic tool in these cases and to look at the causes of chronic headaches and treatment outcomes for this patient population...
  5. Franke B, Vermeulen S, Steegers Theunissen R, Coenen M, Schijvenaars M, Scheffer H, et al. An association study of 45 folate-related genes in spina bifida: Involvement of cubilin (CUBN) and tRNA aspartic acid methyltransferase 1 (TRDMT1). Birth Defects Res A Clin Mol Teratol. 2009;85:216-26 pubmed publisher
    ..5 to 12 per 1000 births globally. In this article we attempt to identify genes related to folate and its metabolic pathways that are involved in the etiology of spina bifida...
  6. Abrahamsson K, Jodal U, Sixt R, Olsson I, Sillen U. Estimation of renal function in children and adolescents with spinal dysraphism. J Urol. 2008;179:2407-9 pubmed publisher
    In children with spinal dysraphism such as myelomeningocele the relation between muscle mass and body composition varies considerably...
  7. Verhoef M, Post M, Barf H, van Asbeck F, Gooskens R, Prevo A. Perceived health in young adults with spina bifida. Dev Med Child Neurol. 2007;49:192-7 pubmed
    ..Although these differences were statistically significant they were small. Findings for the emotional health domains (vitality, mental health, role problems due to emotional problems) did not differ at all from the population group...
  8. Postma M, Londeman J, Veenstra M, de Walle H, de Jong van den Berg L. Cost-effectiveness of periconceptional supplementation of folic acid. Pharm World Sci. 2002;24:8-11 pubmed
    ..Supplementation of folic acid prior to and in the beginning of pregnancy may prevent neural tube defects (NTDs) in newborns--such as spina bifida--and possibly other congenital malformations...
  9. Sharma M, Jain D, Sarkar C, Bhatnagar V, Rishi A, Suri V, et al. Lumbosacral Wilms' tumor as a component of immature teratoma associated with spinal dysraphism--a rare case and short literature review. Fetal Pediatr Pathol. 2009;28:201-8 pubmed
    ..the fourth reported case of lumbosacral Wilms' tumor as a component of immature teratoma associated with spinal dysraphism. We discuss possible mechanisms and clinical characteristics of extrarenal Wilms' tumor and present a short ..
  10. Antle B, Montgomery G, Stapleford C. The many layers of social support: capturing the voices of young people with spina bifida and their parents. Health Soc Work. 2009;34:97-106 pubmed
    ..Implications for social work practice with targeted populations and systems are considered...
  11. Sawin K, Bellin M, Roux G, Buran C, Brei T. The experience of self-management in adolescent women with spina bifida. Rehabil Nurs. 2009;34:26-38 pubmed
  12. Mosley B, Hobbs C, Flowers B, Smith V, Robbins J. Folic acid and the decline in neural tube defects in Arkansas. J Ark Med Soc. 2007;103:247-50 pubmed
  13. Friedman D, Holmbeck G, Jandasek B, Zukerman J, Abad M. Parent functioning in families of preadolescents with spina bifida: longitudinal implications for child adjustment. J Fam Psychol. 2004;18:609-19 pubmed
    ..These findings have implications for potential interventions targeted at helping families manage the transition into early adolescence in families of children with spina bifida as well as families of healthy children...
  14. Guggisberg D, Hadj Rabia S, Viney C, Bodemer C, Brunelle F, Zerah M, et al. Skin markers of occult spinal dysraphism in children: a review of 54 cases. Arch Dermatol. 2004;140:1109-15 pubmed
    ..the diagnostic value of lumbosacral midline cutaneous lesions in asymptomatic children to detect occult spinal dysraphism (OSD) and to propose a practical approach for clinical investigations with respect to the type of cutaneous ..
  15. Dik P, Tsachouridis G, Klijn A, Uiterwaal C, de Jong T. Detrusorectomy for neuropathic bladder in patients with spinal dysraphism. J Urol. 2003;170:1351-4 pubmed
    ..We assess the outcome of detrusorectomy in 35 patients with spina bifida who were incontinent due to poor bladder volume or poor compliance...
  16. Ab E, Dik P, Klijn A, van Gool J, de Jong T. Detrusor overactivity in spina bifida: how long does it need to be treated?. Neurourol Urodyn. 2004;23:685-8 pubmed
  17. Gustavsson P, Greene N, Lad D, Pauws E, de Castro S, Stanier P, et al. Increased expression of Grainyhead-like-3 rescues spina bifida in a folate-resistant mouse model. Hum Mol Genet. 2007;16:2640-6 pubmed
    ..This study provides evidence for a critical role of diminished Grhl3 expression in causing spinal NTDs in the curly tail mouse model...
  18. Iddon J, Morgan D, Loveday C, Sahakian B, Pickard J. Neuropsychological profile of young adults with spina bifida with or without hydrocephalus. J Neurol Neurosurg Psychiatry. 2004;75:1112-8 pubmed
    To determine the relative impact of hydrocephalus and spinal dysraphism in young adults on intellectual and cognitive functioning...
  19. Llanos A, Hertrampf E, Cortes F, Pardo A, Grosse S, Uauy R. Cost-effectiveness of a folic acid fortification program in Chile. Health Policy. 2007;83:295-303 pubmed
    ..In Chile, fortification of wheat flour with folic acid has resulted in significant reduction in the risk of anencephaly and spina bifida. We investigated the cost-effectiveness implications of this policy...
  20. Henriques J, Pianetti Filho G, Costa P, Henriques K, Perpétuo F. [Screening of occult spinal dysraphism by ultrasonography]. Arq Neuropsiquiatr. 2004;62:701-6 pubmed
    ..spine lesions, intra-operative use in trauma and spine tumors surgery, pre-operative and follow up study for spinal dysraphism, occult spinal dysraphism of the newborn...
  21. Dosa N, Foley J, Eckrich M, Woodall Ruff D, Liptak G. Obesity across the lifespan among persons with spina bifida. Disabil Rehabil. 2009;31:914-20 pubmed publisher
    ..Identify risk factors for obesity across the lifespan for individuals with spina bifida...
  22. Schropp C, Sorensen N, Collmann H, Krauss J. Cutaneous lesions in occult spinal dysraphism--correlation with intraspinal findings. Childs Nerv Syst. 2006;22:125-31 pubmed
    This study was conducted to investigate the frequency and type of cutaneous stigmata in different forms of occult spinal dysraphism (OSD) and their correlation to the underlying malformation.
  23. Bruner J, Tulipan N. Tell the truth about spina bifida. Ultrasound Obstet Gynecol. 2004;24:595-6 pubmed
  24. Kumar R, Singh S. Spinal dysraphism: trends in northern India. Pediatr Neurosurg. 2003;38:133-45 pubmed
    To evaluate the clinical profiles, image findings and surgical outcome of 155 cases of spinal dysraphism.
  25. Kalfoss M, Alve S. Self-reported psychological distress: an outcome that matters for community-residing adults with spina bifida. Eur J Pediatr Surg. 2003;13 Suppl 1:S42-4 pubmed
  26. Padua L, Rendeli C, Rabini A, Girardi E, Tonali P, Salvaggio E. Health-related quality of life and disability in young patients with spina bifida. Arch Phys Med Rehabil. 2002;83:1384-8 pubmed
    ..To assess the health-related quality of life (QOL) and disability in young patients with spina bifida and to correlate them with the clinical examination findings...
  27. Kawamura T, Nishio S, Morioka T, Fukui K. Callosal anomalies in patients with spinal dysraphism: correlation of clinical and neuroimaging features with hemispheric abnormalities. Neurol Res. 2002;24:463-7 pubmed
    ..3 years) with caudal spinal dysraphism (myeloschisis in eight, meningomyelocele in 10, and lumbosacral lipoma in five) to characterize types and ..
  28. de Jong T, Chrzan R, Klijn A, Dik P. Treatment of the neurogenic bladder in spina bifida. Pediatr Nephrol. 2008;23:889-96 pubmed publisher
    ..Concerning sexuality, special attention is needed to address expectations of adolescent patients. Sensibility of the glans penis can be restored by surgery in the majority of patients...
  29. Shaw G, Lammer E, Zhu H, Baker M, Neri E, Finnell R. Maternal periconceptional vitamin use, genetic variation of infant reduced folate carrier (A80G), and risk of spina bifida. Am J Med Genet. 2002;108:1-6 pubmed
  30. Wong R, Wlodarczyk B, Min K, Scott M, Kartiko S, Yu W, et al. Mouse Fkbp8 activity is required to inhibit cell death and establish dorso-ventral patterning in the posterior neural tube. Hum Mol Genet. 2008;17:587-601 pubmed
    ..The mutant Fkbp8 allele is a new experimental model which will be useful in dissecting the pathogenesis of spinal NTDs, and enhance our understanding of the etiology of human NTDs...
  31. Michelson D, Ashwal S. Tethered cord syndrome in childhood: diagnostic features and relationship to congenital anomalies. Neurol Res. 2004;26:745-53 pubmed
    ..functional disorder of the spinal cord that often develops and presents in childhood in association with spinal dysraphism. While the subtlety with which TCS can present makes it challenging to diagnose, awareness of the common ..
  32. Williams L, Mai C, Edmonds L, Shaw G, Kirby R, Hobbs C, et al. Prevalence of spina bifida and anencephaly during the transition to mandatory folic acid fortification in the United States. Teratology. 2002;66:33-9 pubmed
    ..We sought to determine the prevalences of spina bifida and anencephaly during the transition to mandatory folic acid fortification...
  33. Ouyang L, Grosse S, Armour B, Waitzman N. Health care expenditures of children and adults with spina bifida in a privately insured U.S. population. Birth Defects Res A Clin Mol Teratol. 2007;79:552-8 pubmed
    ..Updated estimates are essential for calculations of lifetime costs and for economic evaluations of prevention and management strategies for spina bifida...
  34. Robinson A, Russell S, Rimmer S. The value of ultrasonic examination of the lumbar spine in infants with specific reference to cutaneous markers of occult spinal dysraphism. Clin Radiol. 2005;60:72-7 pubmed
  35. Frey L, Hauser W. Epidemiology of neural tube defects. Epilepsia. 2003;44 Suppl 3:4-13 pubmed publisher
    ..There is strong evidence, overall, for a protective effect of adequate folate consumption. In some high-risk groups, however, such as women taking AEDs, folate supplementation has not been proven to reduce NTD risk...
  36. Roebroeck M, Jahnsen R, Carona C, Kent R, Chamberlain M. Adult outcomes and lifespan issues for people with childhood-onset physical disability. Dev Med Child Neurol. 2009;51:670-8 pubmed publisher
    ..There is an international challenge to incorporate a lifespan perspective in paediatric, transition, and adult health care services for persons with a childhood-onset disability...
  37. Case A, Canfield M. Methods for developing useful estimates of the costs associated with birth defects. Birth Defects Res A Clin Mol Teratol. 2009;85:920-4 pubmed publisher
    ..However, comprehensive cost-of-illness estimates for this condition may be too outdated, too general, or not applicable to individual states' environments...
  38. Overgoor M, Kon M, Cohen Kettenis P, Strijbos S, de Boer N, de Jong T. Neurological bypass for sensory innervation of the penis in patients with spina bifida. J Urol. 2006;176:1086-90; discussion 1090 pubmed
    ..In this prospective study we investigated the outcome of a new operative neurological bypass procedure in patients with spina bifida...
  39. Simeonsson R, McMillen J, Huntington G. Secondary conditions in children with disabilities: spina bifida as a case example. Ment Retard Dev Disabil Res Rev. 2002;8:198-205 pubmed
    ..The significance of secondary conditions is that they are preventable. Identifying the mechanisms associated with their manifestation is thus an important priority for the development of effective prevention programs...
  40. Shehu B, Tunau K. Blindness following ventriculoperitoneal shunt block in a child with spinal dysraphism: case report. East Afr Med J. 2005;82:106-7 pubmed
    ..This was followed by rapid improvement but vision was never regained. Shunt malfunction in patients with spinal dysraphism can lead to visual loss but the features may mimic those of meningitis, and delayed referral and treatment...
  41. Antony F, Holden C. Diffuse hypertrichosis and faun-tail naevus as cutaneous markers of spinal dysraphism. Clin Exp Dermatol. 2002;27:645-8 pubmed
    We describe two cases of spinal dysraphism where detection of the cutaneous signs - namely a faun-tail naevus and diffuse hypertrichosis - led to early recognition of the occult neurological abnormalities and institution of corrective ..
  42. Ozel S, Dokumcu Z, Akyildiz C, Avanoglu A, Ulman I. Factors affecting renal scar development in children with spina bifida. Urol Int. 2007;79:133-6 pubmed
    ..Prevention of renal scarring is the main therapeutic goal in children with spina bifida. We aimed to determine factors affecting renal scar development in these patients...
  43. Verhoef M, Barf H, Post M, van Asbeck F, Gooskens R, Prevo A. Secondary impairments in young adults with spina bifida. Dev Med Child Neurol. 2004;46:420-7 pubmed
    ..According to level of lesion, most medical problems were found in the high-level lesion group. However, all subgroups suffered from health problems...
  44. Lew S, Kothbauer K. Tethered cord syndrome: an updated review. Pediatr Neurosurg. 2007;43:236-48 pubmed
    ..The majority of cases are related to spinal dysraphism. TCS can present in any age group, and presentations differ according to the underlying pathologic condition ..
  45. Beuls E, Vanormelingen L, van Aalst J, Vandersteen M, Adriaensens P, Cornips E, et al. In vitro high-field magnetic resonance imaging-documented anatomy of a fetal myelomeningocele at 20 weeks' gestation. A contribution to the rationale of intrauterine surgical repair of spina bifida. J Neurosurg. 2003;98:210-4 pubmed
    ..The authors conducted a study to provide a detailed analysis of the morphology of the spinal cord with the myelomeningocele at the time fetal surgery usually is performed...
  46. Kompanje E, de Jong T, Arts W, Rotteveel J. [Questionable basis for 'hopeless and unbearable suffering' as the criterion for the active termination of life in newborns with spina bifida]. Ned Tijdschr Geneeskd. 2005;149:2067-9 pubmed
    ..and on what basis should a given situation be regarded as an 'emergency situation'?; (b) what qualifies as a very severe form of spina bifida?; (c) what kind of care should be provided after the decision to withhold active care?..
  47. Canfield M, Ramadhani T, Shaw G, Carmichael S, Waller D, Mosley B, et al. Anencephaly and spina bifida among Hispanics: maternal, sociodemographic, and acculturation factors in the National Birth Defects Prevention Study. Birth Defects Res A Clin Mol Teratol. 2009;85:637-46 pubmed publisher
  48. Buran C, McDaniel A, Brei T. Needs assessment in a spina bifida program: a comparison of the perceptions by adolescents with spina bifida and their parents. Clin Nurse Spec. 2002;16:256-62 pubmed
    ..1, =.04). Identification of medical, psychosocial, and economic needs of adolescents with a neural tube defect and their families has implications for quality improvement and program development...
  49. Greene N, Copp A. Development of the vertebrate central nervous system: formation of the neural tube. Prenat Diagn. 2009;29:303-11 pubmed publisher
    ..We describe the process of neural tube formation, discuss the cellular mechanisms involved and highlight recent findings that provide links between molecular signaling pathways and morphogenetic tissue movements...
  50. Sawin K, Brei T, Buran C, Fastenau P. Factors associated with quality of life in adolescents with spina bifida. J Holist Nurs. 2002;20:279-304 pubmed
    ..Holistic practitioners need to be aware of areas perceived positively and negatively by these adolescents and their families as well as factors associated with outcomes...
  51. Barf H, Verhoef M, Post M, Jennekens Schinkel A, Gooskens R, Mullaart R, et al. Educational career and predictors of type of education in young adults with spina bifida. Int J Rehabil Res. 2004;27:45-52 pubmed
    ..1:1), but HC (odds 4.3:1) and wheelchair dependence (odds 2.6:1) were also a significant. Other variables were not significant predictors of special secondary education...
  52. Barf H, Verhoef M, Jennekens Schinkel A, Post M, Gooskens R, Prevo A. Cognitive status of young adults with spina bifida. Dev Med Child Neurol. 2003;45:813-20 pubmed
    ..Cognitive status of persons with SB occulta and of those with AHC- was similar to that in the healthy population. The presence of associated pathology, rather than SB per se, has a negative effect on cognitive status...
  53. Lemelle J, Guillemin F, Aubert D, Guys J, Lottmann H, Lortat Jacob S, et al. Quality of life and continence in patients with spina bifida. Qual Life Res. 2006;15:1481-92 pubmed
    ..This study attempts to determine the relationships between urinary/faecal incontinence, methods of management, and Health Related Quality of Life (HRQoL) in people with SB...