S.L. MOROZOV^1,2,3, O.V. POLYAKOVA², N.V. YANOVSKAYA², A.V. ZVEREVA², V.V. DLIN¹

 ¹Scientific-research Clinical Institute for Pediatrics named after Acad. Yu.E. Veltishchev of the Russian Scientific-research Medical University named after N.I. Pirogov, Moscow

²Russian Scientific-research Medical University named after N.I. Pirogov, Moscow

³Lapino Clinical Hospital of “Mat i Ditya” Group, Moscow region

 Contact:

Morozov S.L. ― PhD (medicine), Senior Researcher of the Department of Inherited and Acquired Kidney Diseases, Associate Professor of the Department of Hospital Pediatrics No. 2 of Pediatrics Faculty

Address: 2 Taldomskaya Str., 125412, Moscow, Russian Federation, tel.: +7-903-138-77-32, e-mail: mser@list.ru

Spina Bifida is a congenital malformation in which a defect in the spine development occurs as a result of the incorrect closure of the embryonic neural tube. At present, the disease presents a large problem, as in most cases it leads to disability of patients, while the absence of pathogenetic therapy and rehabilitation systems make this problem especially urgent. In the article, modern approaches and opportunities for the diagnosis, treatment and rehabilitation of children with this pathology are discussed. The article also presents data on the first patients operated on in utero in the Russian Federation, as well as modern approaches to the diagnosis, surgical treatment, and rehabilitation of these children.

Key words: Children, Spina Bifida, malformation, intrauterine correction, rehabilitation, perinatal diagnosis.

REFERENCES

1. Meuli M., Meuli-Simmen C., Hutchins G.M., Seller M.J., Harrison M.R., Adzick N.S. The spinal cord lesion in human fetuses with myelomeningocele: Implications for fetal surgery. Journal of Pediatric Surgery, 1997, no. 32 (3), 448-452. Doi:10.1016/S0022-3468(97)90603-5.
2. Copp A.J., Adzick N.S., Chitty L.S., Fletcher J.M., Holmbeck G.N., Shaw G.M. Spinabifida. NatRevDisPrimers, 2015, no. 1:15007. Doi:10.1038/nrdp.2015.7.
3. Morozov S.L. Modern concepts of onyrogenic bladder dysfunction. Rossiyskiy vestnik perinatologii i pediatrii, 2013, no. 58 (4), pp. 24-29 (in Russ.).
4. Baindurashvili A.G., Batysheva T.T., Bykova O.V., Gel’dt V.G. et al. Mielodisplaziya u detey (organizatsiya i okazanie spetsializirovannoy meditsinskoy pomoshchi). Rukovodstvo dlya vrachey [Myelodysplasia in children (organization and provision of specialized medical care)]. Moscow: Predanie, 2017.
5. Yi Y., Lindemann M., Colligs A., Snowball C. Economic burden of neural tube defects and impact of prevention with folic acid: a literature review. Eur. J. Pediatr, 2011, no. 170 (11), pp. 1391-1400. Doi:10.1007/s00431-011-1492-8.
6. Li Z., Ren A., Zhang L., Ye R., Li S., Zheng J. et al. Extremely high prevalence of neural tube defects in a 4-county area in Shanxi Province, China. Birth Defects Res. Part A Clin. Mol. Teratol, 2006, no. 76 (4), pp. 237-240. Doi:10.1002/bdra.20248.
7. Greene N.D.E, Copp A.J. Neural Tube Defects. Annu. Rev. Neurosci, 2014, no. 37 (1), pp. 221-242. Doi:10.1146/annurev-neuro-062012-170354.
8. Popov I.V., Syzdykov E.D., Khatskel’ S.B. Spina bifida posterior as a manifestation of connective tissue dysplasia syndrome. Kazanskiy meditsinskiy zhurnal, 2007, no. 88 (5-S), pp. 140-142 (in Russ.).
9. Juriloff D.M., Harris M.J. Hypothesis: the female excess in cranial neural tube defects reflects an epigenetic drag of the inactivating X chromosome on the molecular mechanisms of neural fold elevation.  Birth Defects Res. Part A Clin. Mol. Teratol, 2012, no.  94 (10), pp. 849-855. Doi:10.1002/bdra.23036.
10. Stothard K.J., Tennant P.W.G., Bell R., Rankin J. Maternal overweight and obesity and the risk of congenital anomalies: a systematic review and meta-analysis. JAMA, 2009, no.  301(6), pp. 636-650. Doi:10.1001/jama.2009.113.
11. Waller D.K., Shaw G.M., Rasmussen S.A., Hobbs C.A., Canfield M.A., Siega-Riz A-M. et al. Prepregnancy obesity as a risk factor for structural birth defects. Arch PediatrAdolesc Med, 2007, no. 161 (8), pp. 745-750. Doi:10.1001/archpedi.161.8.745.
12. Carmichael S.L., Rasmussen S.A., Shaw G.M. Prepregnancy obesity: a complex risk factor for selected birth defects. Birth Defects Res. Part A Clin. Mol. Teratol, 2010, no. 88 (10), pp. 804-810. Doi:10.1002/bdra.20679.
13. Phiel C.J., Zhang F., Huang E.Y., Guenther M.G., Lazar M.A., Klein P.S. Histone deacetylase is a direct target of valproic acid, a potent anticonvulsant, mood stabilizer, and teratogen. J. Biol. Chem., 2001, no. 276 (39), pp. 36734–36741. Doi:10.1074/jbc.M101287200.
14. Hutchins G.M., Meuli M., Meuli-Simmen C., Jordan M.A., Heffez D.S., Blakemore K.J. Acquired spinal cord injury in human fetuses with myelomeningocele. PediatrPathol Lab Med, 1996, no. 16(5), pp. 701-712.
15. Korenromp M.J., van Gool J.D., Bruinese H.W., Kriek R. Early fetal leg movements in myelomeningocele. Lancet, 1986, no. 1 (8486), pp. 917-918. Doi:10.1016/s0140-6736(86)91022-6.
16. Drewek M.J., Bruner J.P., Whetsell W.O., Tulipan N. Quantitative analysis of the toxicity of human amniotic fluid to cultured rat spinal cord. PediatrNeurosurg, 1997, no. 27 (4), pp. 190-193. Doi:10.1159/000121250.
17. Finn M.A., Walker M.L. Spinal lipomas: clinical spectrum, embryology, and treatment. Neurosurg Focus, 2007, no. 23 (2):E10. Doi:10.3171/FOC-07/08/E10.
18. Amniotic fluid acetylcholinesterase electrophoresis as a secondary test in the diagnosis of anencephaly and open spina bifida in early pregnancy. Report of the Collaborative acetylcholinesterase Study. Lancet, 1981, no. 2 (8242), pp. 321-324.
19. Chitty L.S. Ultrasound screening for fetal abnormalities. Prenat. Diagn, 1995, no. 15 (13), pp. 1241-1257. Doi:10.1002/pd.1970151306.
20. Rankin J., Glinianaia S., Brown R., Renwick M. The changing prevalence of neural tube defects: a population-based study in the north of England, 1984-96. Northern Congenital Abnormality Survey Steering Group. PaediatrPerinatEpidemiol, 2000, no. 14 (2), pp. 104-110. Doi:10.1046/j.1365-3016.2000.00246.x.
21. HS Fetal Anomaly Screening Programme Standards, 2015, available at: http://www.fetalanomaly.screening.nhs.uk/standards
22. Adzick N.S., Thom E.A., Spong C.Y., Brock J.W., Burrows P.K., Johnson M.P. et al. A Randomized Trial of Prenatal versus Postnatal Repair of Myelomeningocele. N Engl J Med, 2011, no. 364 (11), pp. 993-1004. Doi:10.1056/NEJMoa1014379.
23. Tulipan N., Hernanz-Schulman M., Bruner J.P.. Reduced Hindbrain Herniation after Intrauterine Myelomeningocele Repair: A Report of Four Cases. PediatrNeurosurg, 1998, no. 29 (5), pp. 274-278. Doi:10.1159/000028735.
24. Moldenhauer J.S., Soni S., Rintoul N.E., Spinner S.S., Khalek N., Martinez-Poyer J. et al. Fetal Myelomeningocele Repair: The Post-MOMS Experience at the Children’s Hospital of Philadelphia. Fetal DiagnTher, 2015, no. 37 (3), pp. 235-240. Doi:10.1159/000365353.
25. Greenley R.N., Holmbeck G.N., Zukerman J., Buck C.F. In: Neural Tube Defects: From Origin to Treatment. Wyszynski DF, editor. Oxford Univ. Press, 2006, pp. 307-324.
26. de Jong TPVM, Chrzan R., Klijn A.J., Dik P. Treatment of the neurogenic bladder in spina bifida. Pediatr. Nephrol, 2008, no. 23 (6), pp. 889-896. Doi:10.1007/s00467-008-0780-7.
27. Dik P., Klijn A.J., van Gool J.D., de Jong-de Vos van Steenwijk C.C.E., de Jong T.P.V.M. Early start to therapy preserves kidney function in spina bifida patients. Eur. Urol, 2006, no. 49 (5), pp. 908-913. Doi:10.1016/j.eururo.2005.12.056.
28. Keshishyan E.S. Psikhomotornoe razvitie detey na pervom godu zhizni (posobie dlya vrachey) [Psychomotor development of children in the first year of life (a manual for doctors)]. Moscow, 2000. P. 37.
29. Khan M.A., Razumnov A.N., Korchazhkina N.B., Pogonchenkova I.V. Fizicheskaya i reabilitatsionnaya meditsina v pediatrii [Physical and rehabilitation medicine in pediatrics]. Moscow: GEOTAR-Media, 2018.