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Spina bifida — Clinical Guidelines

Overview

Spina bifida is a congenital malformation of the spine characterized by incomplete closure of the neural tube, leading to varying degrees of neurological impairment, often accompanied by orthopedic and urological complications. 1 2 10

Diagnosis

Prenatal diagnosis via ultrasound and magnetic resonance imaging (MRI) 10 21

Postnatal evaluation includes physical examination, neurological assessment, and imaging studies (MRI, CT) 21

Fetal MRI can identify ventriculomegaly, cerebellar herniation, and extraaxial space effacement 21

Management

Urological Management: Early establishment and maintenance of continence, regular urodynamic studies, and surveillance for renal function 2 20 26

Bladder Management: Use of catheters, intermittent catheterization, and anticholinergic medications as needed (e.g., oxybutynin) 2 26

Orthopedic Interventions: Multidisciplinary approach including surgical correction of deformities and orthotic support 5

Neurodevelopmental Support: Address cognitive and motor impairments through tailored rehabilitation programs 2 22

Special Populations

Pregnancy: Women with spina bifida may face increased risks of urinary tract infections and require close obstetric monitoring 16 22

Pediatrics: Focus on early intervention for urological and orthopedic issues to prevent long-term complications 2 5 22

Transition to Adult Care: Assess readiness for transition, addressing cognitive and psychosocial needs 7 13 14

Comorbidities: Regular monitoring for renal function, tethered cord syndrome, and cognitive impairments 2 20 28

Key Recommendations

Implement early and ongoing urological surveillance to prevent renal deterioration in children with spina bifida (Evidence: Strong 2 26)

Facilitate multidisciplinary care transitions from pediatric to adult services, ensuring readiness assessments for young adults (Evidence: Moderate 7 14)

Use prenatal MRI to identify fetal anomalies predictive of adverse outcomes in spina bifida cases (Evidence: Moderate 21)

Promote folic acid supplementation in women of childbearing age to reduce spina bifida incidence (Evidence: Strong 12)

Ensure urologists are prepared to manage latex allergies in patients with spina bifida due to increased risk (Evidence: Expert opinion 29)

References

1 Szymanski KM, Carroll AE, Misseri R, Moore CM, Hawryluk BA, Wiehe SE. Building a prototype of a continence goal-selection tool for children with spina bifida: Patient, parental and urology provider recommendations. Journal of pediatric urology 2023. link 2 Gandy K, Castillo H, Kelly M, Bradko V, MacDonald B, Thibadeau J et al.. Neurodevelopmental Implications on Urological Self-management Among People Living With Spina Bifida: A Practical Guide for Urology Providers. Urology 2023. link 3 White M, Arif-Pardy J, Connor KL. Identification of novel nutrient-sensitive gene regulatory networks in amniocytes from fetuses with spina bifida. Reproductive toxicology (Elmsford, N.Y.) 2023. link 4 Kane G, Doyle M, Kelly G, Subramaniam R, Cascio S. A multinational survey on the management of the urinary tract in newborns with spina bifida: Are we following current EAU/ESPU guidelines?. Neurourology and urodynamics 2022. link 5 Shobeiri P, Presedo A, Karimi A, Momtazmanesh S, Vosoughi F, Nabian MH. Orthopedic management of myelomeningocele with a multidisciplinary approach: a systematic review of the literature. Journal of orthopaedic surgery and research 2021. link 6 Yerkes EB, Cheng EY, Wiener JS, Austin JC, Tu DD, Joseph DB et al.. Translating pediatric urodynamics from clinic into collaborative research: Lessons and recommendations from the UMPIRE study group. Journal of pediatric urology 2021. link 7 Roth JD, Szymanski KM, Ferguson EJ, Cain MP, Misseri R. Transitioning young adults with neurogenic bladder-Are providers asking too much?. Journal of pediatric urology 2019. link 8 Rizzo G, Bussolin L, Genitori L, Zicca A, Messeri A, Lenge M et al.. The use of opioids in children receiving intrathecal baclofen therapy. Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery 2019. link 9 Mitchell S, Gurung PMS, Choong S, Morris T, Smith D, Woodhouse C et al.. Percutaneous Nephrolithotomy and Spina Bifida: Complex Major Stone Surgery?. Journal of endourology 2018. link 10 . Committee Opinion No. 720: Maternal-Fetal Surgery for Myelomeningocele. Obstetrics and gynecology 2017. link 11 . Committee Opinion No. 720 Summary: Maternal-Fetal Surgery for Myelomeningocele. Obstetrics and gynecology 2017. link 12 Yila TA, Araki A, Sasaki S, Miyashita C, Itoh K, Ikeno T et al.. Predictors of folate status among pregnant Japanese women: the Hokkaido Study on Environment and Children's Health, 2002-2012. The British journal of nutrition 2016. link 13 Le JT, Mukherjee S. Transition to adult care for patients with spina bifida. Physical medicine and rehabilitation clinics of North America 2015. link 14 Stephany HA, Ching CB, Kaufman MR, Squiers A, Trusler L, Clayton DB et al.. Transition of urologic patients from pediatric to adult care: a preliminary assessment of readiness in spina bifida patients. Urology 2015. link 15 Veenboer PW, Ruud Bosch JL, de Kort LM. Assessment of bladder and kidney functioning in adult spina bifida patients by Dutch urologists: a survey. Neurourology and urodynamics 2014. link 16 Stansfield C. Maternity care of a woman with spina bifida. The practising midwife 2012. link 17 Rabiu TB, Tiamiyu LO, Awoyinka BS. Awareness of spina bifida and periconceptional use of folic acid among pregnant women in a developing economy. Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery 2012. link 18 Pickering D. A fight for the right to life. The practising midwife 2011. link 19 Smith K, Mizokawa S, Neville-Jan A, Macias K. Urinary continence across the life course. Pediatric clinics of North America 2010. link 20 Clayton DB, Brock JW. The urologist's role in the management of spina bifida: a continuum of care. Urology 2010. link 21 Chao TT, Dashe JS, Adams RC, Keefover-Hicks A, McIntire DD, Twickler DM. Central nervous system findings on fetal magnetic resonance imaging and outcomes in children with spina bifida. Obstetrics and gynecology 2010. link 22 Joseph DB. Current approaches to the urologic care of children with spina bifida. Current urology reports 2008. link 23 Oakley GP. When will we eliminate folic acid-preventable spina bifida?. Epidemiology (Cambridge, Mass.) 2007. link 24 Shaer CM, Chescheir N, Erickson K, Schulkin J. Obstetrician-gynecologists' practice and knowledge regarding spina bifida. American journal of perinatology 2006. link 25 . The spinal cord and brain in myelodysplasias. Australian family physician 2002. link 26 . Urological management of spina bifida (including management of urinary tract infections). Australian family physician 2002. link 27 . Health promotion strategies an other clinical issues in spina bifida. Australian family physician 2002. link 28 . Spinal cord tethering. Australian family physician 2002. link 29 Sidwell RU, Green JS, Basarab T. Are urologists prepared for latex-allergic patients?. BJU international 2001. link 30 Seller MJ, Bergbaum A, Daker MG. Trisomy 9 in an embryo with spina bifida. Clinical dysmorphology 1998. link 31 Goldfine C, Knight GJ, Haddow JE, Palomaki GE. Amniotic fluid acetylcholinesterase measurements: comparing immunochemical and polyacrylamide gel techniques. Prenatal diagnosis 1989. link 32 Farine D, Jackson U, Portale A, Baxi L, Fox HE. Pregnancy complicated by maternal spina bifida. A report of two cases. The Journal of reproductive medicine 1988. link 33 Czeizel A, Losonci A. Split hand, obstructive urinary anomalies and spina bifida or diaphragmatic defect syndrome with autosomal dominant inheritance. Human genetics 1987. link 34 Gaston H. Does the spina bifida clinic need an ophthalmologist?. Zeitschrift fur Kinderchirurgie : organ der Deutschen, der Schweizerischen und der Osterreichischen Gesellschaft fur Kinderchirurgie = Surgery in infancy and childhood 1985. link 35 Maitland N, Agnew K. Combination shower toilet. Child: care, health and development 1977. link 36 Van Went JJ, Van Went GF, Delleman JW, Becker AG. Spina bifida and so-called asplenia syndrome occurring separately in sibs. Teratology 1977. link 37 Birch R. Surgery of the knee in children with spina bifida. Developmental medicine and child neurology. Supplement 1976. link

Spina bifida