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Տող 1.
'''Սպինա բիֆիդա''', [[Բնածին արատներ|բնածին արատ]] է, որն առաջանում է [[Նյարդային համակարգ|նյարդային համակարգի]] զարգացման ընթացքում [[Ողնուղեղ|ողնուղեղը]] շրջապատող թաղանթների և [[Ողնաշար|ողնաշարի]] [[Ոսկոր|ոսկրերի]] անավարտ փակման արդյունքում<ref name="NIH2012Over" />։ Հիմնականում գոյություն ունեն սպինա բիֆիդայի երեք տեսակներ՝ '''թաքնված սպինա բիֆիդա,''' '''մենինգոցելե, միելոմենինգոցելե'''<ref name=NIH2012Over>{{cite web|title=Spina Bifida: Condition Information|url=http://www.nichd.nih.gov/health/topics/spinabifida/conditioninfo/Pages/default.aspx|date=2012-11-30|deadurl=no|archiveurl=https://web.archive.org/web/20150518075105/http://www.nichd.nih.gov/health/topics/spinabifida/conditioninfo/Pages/default.aspx|archivedate=2015-05-18|df=}}</ref>։ Սպինա բիֆիդայի առավել հաճախ առաջացման վայրը գտնվում է [[Ողնաշար|ողնաշարի]] ստորին հատվածներում, սակայն հազվադեպ կարող է առաջանալ նաև միջին և վերին՝ պարանոցային հատվածներում<ref>{{cite book|last1=Deming|first1=Laura|title=Pediatric life care planning and case management|date=2011|publisher=CRC Press|location=Boca Raton, FL|isbn=9781439803585|page=392|edition=2nd|url=https://books.google.com/books?id=XHdTydOXpuoC&pg=PA392|df=}}</ref>։ Թաքնված սպինա բիֆիդայի դեպքում նշանները կարող են լինել թեթև արտահայտված կամ կարող են իսպառ բացակայել<ref name=NIH2012Diag/>։ Այդ նշաններից են ողնաշարի ախտահարման վայրում մազափնջի, փոսիկի, մուգ բծի կամ արտափքման առկայությունը<ref name=NIH2012Over/>։ Մենինգոցելեն, որպես կանոն առաջացնում է թույլ աստիճանի խանգարումներ և դրսևորվում է ախտահարված հատվածի բացվածքում՝ հեղուկով լցված պարկի առկայությամբ<ref name=NIH2012Over/>։ Միելոմենինգոցելեն, հայտնի է նաև բաց սպինա բիֆիդա անվանմամբ, արատի ամենածանր ձևն է<ref name=NIH2012Sym/>։ Սպինա բիֆիդան ուղեկցվում է քայլելու դժվարությամբ, [[Միզապարկ|միզապարկի]] և [[Աղիքներ|աղիների]] գործունեության ղեկավարման խնդիրներով, [[Գլխուղեղ|գլխուղեղում]] հեղուկի կուտակմամբ՝ [[Հիդրոցեֆալիա|հիդրոցեֆալիայով]], [[Ողնուղեղ|ողնուղեղի]] սահմանափակմամբ ողնային խողովակում և լատեքսի նկատմամբ ալերգիկ ռեակցիայով<ref name=NIH2012Sym/>։ Ուսումնական գործընթացում հարաբերականորեն բնորոշ չի խնդիրների առկայությունը<ref name=NIH2012Sym>{{cite web|title=Are there disorders or conditions associated with spina bifida?|url=http://www.nichd.nih.gov/health/topics/spinabifida/conditioninfo/Pages/disorders-conditions.aspx|accessdate=8 May 2015|date=2012-11-30|deadurl=no|archiveurl=https://web.archive.org/web/20150518075103/http://www.nichd.nih.gov/health/topics/spinabifida/conditioninfo/Pages/disorders-conditions.aspx|archivedate=18 May 2015|df=}}</ref>։
Ենթադրվում է սպինա բիֆիդայի առաջացման գործում [[Ժառանգականություն|ժառանգականության]] և միջավայրի գործոնների համակցված ազդեցությունը<ref name=NIH2012Ca/>։ Եթե ծնողներից կամ նրանց երեխաներից մեկի մոտ առկա է սպինա բիֆիդա, հաջորդ երեխայի արատով ծնվելու հավանականությունը կազմում է 4%<ref name=NIH2012Epi>{{cite web|title=How many people are affected by or at risk for spina bifida?|url=http://www.nichd.nih.gov/health/topics/spinabifida/conditioninfo/Pages/affected-risk.aspx|accessdate=8 May 2015|date=2012-11-30|deadurl=no|archiveurl=https://web.archive.org/web/20150518074316/http://www.nichd.nih.gov/health/topics/spinabifida/conditioninfo/Pages/affected-risk.aspx|archivedate=18 May 2015|df=}}</ref>։ [[Հղիություն (մարդ)|Հղիությունից]] առաջ և դրա ընթացքում [[Ֆոլատ|ֆոլատով]] աղքատ սննդակարգ ունենալու դեպքում, ևս բարձրանում է երեխայի մոտ սպինա բիֆիդայի առաջացման հավանականություն<ref name=NIH2012Ca>{{cite web|title=What causes spina bifida?|url=http://www.nichd.nih.gov/health/topics/spinabifida/conditioninfo/Pages/causes.aspx|accessdate=8 May 2015|date=2012-11-30|deadurl=no|archiveurl=https://web.archive.org/web/20150518073039/http://www.nichd.nih.gov/health/topics/spinabifida/conditioninfo/Pages/causes.aspx|archivedate=18 May 2015|df=}}</ref>։ Մյուս ռիսկի գործոններին են պատկանում [[Հակացնցումային դեղորայք|հակացնցումային դեղորայքի]] կիրառումը, [[Ճարպակալում|ճարպակալումը]] և կարգավորման դժվար ենթարկվող [[Շաքարային դիաբետ|շաքարային դիաբետը]]<ref name=NIH2012Epi/>։ Ախտոորոշումը կարող է դրվել երեխայի ինչպես մինչծննդյան, այնպես էլ հետծննդյան շրջանում<ref name=NIH2012Diag/>։ Մինչծննդյան շրջանում արյան հետազոտության կամ ամնիոցենտեզի ժամանակ հայտնաբերված ալֆա ֆետոպրոտեինի (ԱՖՊ) բարձր մակարդակը, խիստ բարձրացնում է սպինա բիֆիդայի առկայության հավանականությունը<ref name=NIH2012Diag/>։ Արատը կարող է հայտնաբերվել նաև ուլտրաձայնային հետազոտությամբ։ Պատկերավորման այլ մեթոդների միջոցով ախտորոշումը կատարվում է հետծննդյան շրջանում<ref name=NIH2012Diag>{{cite web|title=How do health care providers diagnose spina bifida?|url=http://www.nichd.nih.gov/health/topics/spinabifida/conditioninfo/Pages/diagnose.aspx|accessdate=8 May 2015|date=2012-11-30|deadurl=no|archiveurl=https://web.archive.org/web/20150518074318/http://www.nichd.nih.gov/health/topics/spinabifida/conditioninfo/Pages/diagnose.aspx|archivedate=18 May 2015|df=}}</ref>։ Սպինա բիֆիդան նյարդային խողովակի արատի օրինակ է, սակայն իր դրսևորումներ տարբերվում է այս շարքի մյուս արատներից՝ անէնցեֆալիայից և էնցեֆալոցելեյից<ref name=NICHD2015>{{cite web|title=Neural Tube Defects (NTDs): Overview|url=http://www.nichd.nih.gov/health/topics/ntds/Pages/default.aspx|accessdate=8 May 2015|date=2012-11-30|deadurl=no|archiveurl=https://web.archive.org/web/20150509075049/https://www.nichd.nih.gov/health/topics/ntds/Pages/default.aspx|archivedate=9 May 2015|df=}}</ref>։
Most cases of spina bifida can be prevented if the mother gets enough [[folate]] before and during pregnancy.<ref name=NIH2012Ca/> Adding folic acid to [[flour]] has been found to be effective for most women.<ref>{{cite journal|last1=Castillo-Lancellotti|first1=C|last2=Tur|first2=JA|last3=Uauy|first3=R|title=Impact of folic acid fortification of flour on neural tube defects: a systematic review.|journal=Public Health Nutrition|date=May 2013|volume=16|issue=5|pages=901–11|pmid=22850218|doi=10.1017/s1368980012003576}}</ref> Open spina bifida can be surgically closed before or after birth.<ref name=NIH2012Tx/> A shunt may be needed in those with hydrocephalus, and a tethered spinal cord may be surgically repaired.<ref name=NIH2012Tx/> Devices to help with movement such as crutches or wheelchairs may be useful.<ref name=NIH2012Tx/> [[Urinary catheterization]] may also be needed.<ref name=NIH2012Tx>{{cite web|title=What are the treatments for spina bifida & related conditions?|url=http://www.nichd.nih.gov/health/topics/spinabifida/conditioninfo/Pages/treatment.aspx|accessdate=8 May 2015|date=2012-11-30|deadurl=no|archiveurl=https://web.archive.org/web/20150518075220/http://www.nichd.nih.gov/health/topics/spinabifida/conditioninfo/Pages/treatment.aspx|archivedate=18 May 2015|df=}}</ref>
About 15% of people have spina bifida occulta.<ref name=NIH2017>{{cite web|title=Spina Bifida Fact Sheet {{!}} National Institute of Neurological Disorders and Stroke|url=https://www.ninds.nih.gov/Disorders/Patient-Caregiver-Education/Fact-Sheets/Spina-Bifida-Fact-Sheet|website=www.ninds.nih.gov|accessdate=30 March 2018|date=9 May 2017}}</ref> Rates of other types of spina bifida vary significantly by country, from 0.1 to 5 per 1000 [[birth]]s.<ref name=Springer>{{cite book|author1=M. Memet Ö̈zek|title=Spina bifida : management and outcome|date=2008|publisher=Springer|location=Milan|isbn=9788847006508|page=58|url=https://books.google.com/books?id=cpJcUNVgZGMC&pg=PA58|df=}}</ref> On average in [[developed countries]], including the United States, it occurs in about 0.4 per 1000 births.<ref name=ReferenceB>{{cite journal|last1=Kondo|first1=A|last2=Kamihira|first2=O|last3=Ozawa|first3=H|title=Neural tube defects: prevalence, etiology and prevention.|journal=International Journal of Urology |date=January 2009|volume=16|issue=1|pages=49–57|pmid=19120526|doi=10.1111/j.1442-2042.2008.02163.x}}</ref><ref name=NIH2012Epi/><ref>{{cite journal|last1=Canfield|first1=MA|last2=Honein|first2=MA|last3=Yuskiv|first3=N|last4=Xing|first4=J|last5=Mai|first5=CT|last6=Collins|first6=JS|last7=Devine|first7=O|last8=Petrini|first8=J|last9=Ramadhani|first9=TA|last10=Hobbs|first10=CA|last11=Kirby|first11=RS|title=National estimates and race/ethnic-specific variation of selected birth defects in the United States, 1999–2001.|journal=Birth Defects Research. Part A, Clinical and Molecular Teratology|date=November 2006|volume=76|issue=11|pages=747–56|pmid=17051527|doi=10.1002/bdra.20294}}</ref> In India it affects about 1.9 per 1000 births.<ref name="ReferenceC">{{cite journal|last1=Bhide|first1=P|last2=Sagoo|first2=GS|last3=Moorthie|first3=S|last4=Burton|first4=H|last5=Kar|first5=A|title=Systematic review of birth prevalence of neural tube defects in India.|journal=Birth Defects Research. Part A, Clinical and Molecular Teratology|date=July 2013|volume=97|issue=7|pages=437–43|pmid=23873811|doi=10.1002/bdra.23153}}</ref> [[Caucasian race|Caucasians]] are at higher risk compared to black people.<ref name="Newborn surgery">{{cite book|last1=Puri|first1=Prem|title=Newborn surgery|date=2011|publisher=Hodder Arnold|location=London|isbn=9781444149494|page=811|edition=3|url=https://books.google.com/books?id=TSvSBQAAQBAJ&pg=PA811|df=}}</ref> The term is [[Latin]] for "split spine".
==Types==
[[Image:Typesofspinabifida.jpg|thumb|500px|right|Սպինա բիֆիդայի տեսակներ]]
There are two types: spina bifida occulta and spina bifida cystica.<ref name=Fer2016/> Spina bifida cystica can then be broken down into meningocele and myelomeningocele.<ref name=Fer2016>{{cite book|last1=Ferri|first1=Fred F.|title=Ferri's Clinical Advisor 2017: 5 Books in 1|date=2016|publisher=Elsevier Health Sciences|isbn=9780323448383|page=1188.e2|url=https://books.google.com/books?id=rRhCDAAAQBAJ&pg=PA1188-IA2|language=en|df=}}</ref>
===Spina bifida occulta===
''Occulta'' is [[Latin]] for "hidden". This is the mildest form of spina bifida.<ref>{{cite web|url=http://www.spinabifidaassociation.org/site/pp.aspx?c=liKWL7PLLrF&=2700309 |archive-url=https://archive.is/20140505153301/http://www.spinabifidaassociation.org/site/pp.aspx?c=liKWL7PLLrF&=2700309 |dead-url=yes |archive-date=5 May 2014 |title=Are There Different Types Of Spina Bifida? |publisher=SBA |accessdate=22 February 2012 }}</ref>
In occulta, the outer part of some of the vertebrae is not completely closed.<ref name="emedicine">{{cite web | last = Foster | first = Mark R | title = Spina Bifida | url = http://www.emedicine.com/orthoped/TOPIC557.HTM | accessdate = 2008-05-17 | deadurl = no | archiveurl = https://web.archive.org/web/20080513065211/http://www.emedicine.com/orthoped/topic557.htm | archivedate = 2008-05-13 | df = }}</ref> The splits in the vertebrae are so small that the spinal cord does not protrude. The skin at the site of the [[lesion]] may be normal, or it may have some hair growing from it; there may be a dimple in the skin, or a [[birthmark]].<ref name="SBASBO">{{cite web|url=http://www.spinabifidaassociation.org/site/pp.aspx?c=liKWL7PLLrF&b=2700275 |archive-url=https://archive.is/20130416030751/http://www.spinabifidaassociation.org/site/pp.aspx?c=liKWL7PLLrF&b=2700275 |dead-url=yes |archive-date=16 April 2013 |title=Spina Bifida Occulta |publisher=SBA |accessdate=22 February 2012 }}</ref> Unlike most other types of neural tube defects, spina bifida occulta is not associated with increased [[Alpha-fetoprotein|AFP]], a common screening tool used to detect neural tube defects in utero. This is because, unlike most of the other neural tube defects, the dural lining is maintained.
Many people with this type of spina bifida do not even know they have it, as the condition is asymptomatic in most cases.<ref name="SBASBO"/> About 15% of people have spina bifida occulta,<ref name=NIH2017/> and most people are diagnosed incidentally from spinal X-rays.
A systematic review of [[radiography|radiographic]] research studies found no relationship between spina bifida occulta and back pain.<ref name="pmid9055372">{{cite journal |vauthors=van Tulder MW, Assendelft WJ, Koes BW, Bouter LM |title=Spinal radiographic findings and nonspecific low back pain. A systematic review of observational studies |journal=Spine |volume=22 |issue=4 |pages=427–34 |year=1997 |pmid=9055372 |doi=10.1097/00007632-199702150-00015}}</ref> More recent studies not included in the review support the negative findings.<ref name="pmid15885037">{{cite journal |vauthors=Iwamoto J, Abe H, Tsukimura Y, Wakano K |title=Relationship between radiographic abnormalities of lumbar spine and incidence of low back pain in high school rugby players: a prospective study |journal=Scandinavian Journal of Medicine & Science in Sports |volume=15 |issue=3 |pages=163–68 |year=2005 |pmid=15885037 |doi=10.1111/j.1600-0838.2004.00414.x}}</ref><ref name="pmid15090397">{{cite journal |vauthors=Iwamoto J, Abe H, Tsukimura Y, Wakano K |title=Relationship between radiographic abnormalities of lumbar spine and incidence of low back pain in high school and college football players: a prospective study |journal=American Journal of Sports Medicine |volume=32 |issue=3 |pages=781–86 |year=2004 |pmid=15090397|doi=10.1177/0363546503261721}}</ref><ref name="pmid14654032">{{cite journal |vauthors=Steinberg EL, Luger E, Arbel R, Menachem A, Dekel S |title=A comparative roentgenographic analysis of the lumbar spine in male army recruits with and without lower back pain |journal=Clinical Radiology |volume=58 |issue=12 |pages=985–89 |year=2003 |pmid=14654032|doi=10.1016/S0009-9260(03)00296-4}}</ref>
However, other studies suggest spina bifida occulta is not always harmless. One study found that among patients with back pain, severity is worse if spina bifida occulta is present.<ref name="pmid15834319">{{cite journal |vauthors=Taskaynatan MA, Izci Y, Ozgul A, Hazneci B, Dursun H, Kalyon TA |title=Clinical significance of congenital lumbosacral malformations in young male population with prolonged low back pain |journal=Spine |volume=30 |issue=8 |pages=E210–13 |year=2005 |pmid=15834319|doi=10.1097/01.brs.0000158950.84470.2a}}</ref><ref name="pmid8153797">{{cite journal |vauthors=Avrahami E, Frishman E, Fridman Z, Azor M |title=Spina bifida occulta of S1 is not an innocent finding |journal=Spine |volume=19 |issue=1 |pages=12–15 |year=1994 |pmid=8153797|doi=10.1097/00007632-199401000-00003}}</ref>
Among females, this could be mistaken for [[dysmenorrhea]].
''Incomplete posterior fusion'' is not a true spina bifida, and is very rarely of neurological significance.<ref>{{cite web|title=Incomplete Fusion, Posterior Element|url=https://my.statdx.com/STATdMain.jsp?rc=false#dxContent;posterior_element_incomplete_fusion|accessdate= 17 October 2013}} {{Dead link|date=August 2014}}</ref>
===Meningocele===
A posterior meningocele ({{IPAc-en|m|ᵻ|ˈ|n|ɪ|ŋ|ɡ|ə|ˌ|s|iː|l}}) or meningeal cyst ({{IPAc-en|m|ᵻ|ˈ|n|ɪ|n|dʒ|i|əl}}) is the least common form of spina bifida. In this form, a single developmental defect allows the [[meninges]] to herniate between the vertebrae. As the nervous system remains undamaged, individuals with meningocele are unlikely to suffer long-term health problems, although cases of [[Tethered spinal cord syndrome|tethered cord]] have been reported. Causes of meningocele include [[teratoma]] and other [[tumor]]s of the [[sacrococcygeal teratoma|sacrococcyx]] and of the [[presacral space]], and [[Currarino syndrome]].
A meningocele may also form through dehiscences in the base of the skull. These may be classified by their localisation to occipital, frontoethmoidal, or nasal. Endonasal meningoceles lie at the roof of the [[nasal cavity]] and may be mistaken for a [[nasal polyp]]. They are treated surgically. Encephalomeningoceles are classified in the same way and also contain brain tissue.
===Myelomeningocele===
[[File:PMC5193124_eplasty16ic51_fig1.png|thumb|upright=1.4|Գոտկային մենինգոցելե]]
Myelomeningocele (MMC), also known as meningomyelocele, is the type of spina bifida that often results in the most severe complications and affects the meninges and nerves.<ref name="NIH">{{cite web|url=https://www.nlm.nih.gov/medlineplus/ency/article/01558.htm |title=Myelomeningocele |accessdate=2008-06-06 |publisher=NIH }}{{dead link|date=November 2016 |bot=InternetArchiveBot |fix-attempted=yes }}</ref> In individuals with myelomeningocele, the unfused portion of the spinal column allows the spinal cord to protrude through an opening. Myelomeningocele occurs in the third week of embryonic development, during neural tube pore closure. MMC is a failure of this to occur completely.<ref name="NIH2012Ca" /> The meningeal membranes that cover the spinal cord also protrude through the opening, forming a sac enclosing the spinal elements, such as meninges, cerebrospinal fluid, and parts of the spinal cord and nerve roots.<ref>{{Cite book|title=Anatomy & Physiology: Unity of Form and Function|last=Saladin|first=K.S.|publisher=Mc_Graw Hill|year=2010|location=|page=482|isbn=9780077905750}}</ref> Myelomeningocele is also associated with Arnold-Chiari malformation, necessitating a VP shunt placement.<ref name=NICHD2015/>
Toxins associated with MMC formation include: [[calcium-channel blockers]], [[carbamazepine]], [[cytochalasins]], [[hyperthermia]], and [[valproic acid]].<ref name="Springer" />
====Myelocele====
Spina bifida with myelocele is the most severe form of myelomeningocele. In this type, the involved area is represented by a flattened, plate-like mass of nervous tissue with no overlying membrane. The exposure of these nerves and tissues make the baby more prone to life-threatening infections such as [[meningitis]].<ref>Mayo Clinic</ref>
The protruding portion of the spinal cord and the nerves that originate at that level of the cord are damaged or not properly developed. As a result, there is usually some degree of [[paralysis]] and loss of sensation below the level of the spinal cord defect. Thus, the more cranial the level of the defect, the more severe the associated nerve dysfunction and resultant paralysis may be. Symptoms may include ambulatory problems, loss of sensation, deformities of the hips, knees or feet, and loss of muscle tone.
<gallery>
Image:Spina Bifida pelvis X-ray.jpg|X-ray image of spina bifida occulta in S-1
Image:Atlasbogenspalt.jpg|[[X-ray computed tomography]] scan of unfused arch at C1
File:Meningomyelocele diagram.jpg|Myelomeningocele in the lumbar area<br>(1) External sac with [[cerebrospinal fluid]]<br>(2) Spinal cord wedged between the vertebrae
</gallery>
==Signs and symptoms==
===Physical problems===
Physical signs of spina bifida may include:
* Leg weakness and paralysis<ref name=Mitchell>{{cite journal|last=Mitchell|first=L. E.|author2=Adzick, N. S. |author3=Melchionne, J. |author4=Pasquariello, P. S. |author5=Sutton, L. N. |author6=Whitehead, A. S. |title=Spina bifida|journal=Lancet|year=2004|volume=364|pages=1885–95|doi=10.1016/S0140-6736(04)17445-X|pmid=15555669|issue=9448}}</ref>
* Orthopedic abnormalities (i.e., [[club foot]], [[dislocation of hip|hip dislocation]], [[scoliosis]])<ref name="Mitchell" />
* Bladder and bowel control problems, including incontinence, [[urinary tract infections]], and poor kidney function<ref name="Mitchell" />
* [[bedsore|Pressure sores]] and skin irritations<ref name="Mitchell" />
* Abnormal eye movement<ref name="Juranek & Salman">{{cite journal|last=Juranek|first=J|author2=Salman MS |title=Anomalous development of brain structure and function in spina bifida myelomeningocele|journal=Developmental Disabilities|year=2010|volume=16|series=1|pages=23–30|doi=10.1002/ddrr.88|pmid=20419768|issue=1|pmc=2917986}}</ref>
68% of children with spina bifida have an [[allergy]] to [[latex]],<ref>{{cite news|url=https://www.sciencedaily.com/videos/2008/1206-protect_yourself_from_latex_allergies.htm|title=Protect Yourself From Latex Allergies: Plant Biologists And Immunochemists Develop Hypoallergenic Alternative To Latex|accessdate=12 October 2012|date=1 December 2008|work=[[Science Daily]]|deadurl=yes|archiveurl=https://web.archive.org/web/20121018142450/https://www.sciencedaily.com/videos/2008/1206-protect_yourself_from_latex_allergies.htm|archivedate=18 October 2012|df=}}</ref> ranging from mild to life-threatening. The common use of latex in medical facilities makes this a particularly serious concern. The most common approach to avoid developing an allergy is to avoid contact with latex-containing products such as examination gloves and condoms and [[catheters]] that do not specify they are latex-free, and many other products, such as some commonly used by dentists.<ref name="emedicine"/>
The spinal cord lesion or the scarring due to surgery may result in a [[Tethered spinal cord syndrome|tethered spinal cord]]. In some individuals, this causes significant traction and stress on the spinal cord and can lead to a worsening of associated paralysis, [[scoliosis]], back pain, and worsening bowel and/or bladder function.<ref>{{cite web |url=http://www.aans.org/Patient%20Information/Conditions%20and%20Treatments/Tethered%20Spinal%20Cord%20Syndrome.aspx |title=Tethered Spinal Cord Syndrome |publisher=AANS |accessdate=2011-10-23 |deadurl=no |archiveurl=https://web.archive.org/web/20111016001719/http://www.aans.org/Patient%20Information/Conditions%20and%20Treatments/Tethered%20Spinal%20Cord%20Syndrome.aspx |archivedate=2011-10-16 |df= }}</ref>
===Neurological problems===
Many individuals with spina bifida have an associated abnormality of the [[cerebellum]], called the [[Arnold Chiari II malformation]]. In affected individuals, the back portion of the brain is displaced from the back of the skull down into the upper neck. In about 90% of the people with myelomeningocele, [[hydrocephalus]] also occurs because the displaced cerebellum interferes with the normal flow of [[cerebrospinal fluid]], causing an excess of the fluid to accumulate.<ref name=NINDS>{{cite web |url=http://www.ninds.nih.gov/disorders/chiari/detail_chiari.htm#186143087 |title=Chiari Malformation Fact Sheet: National Institute of Neurological Disorders and Stroke (NINDS) |publisher=Ninds.nih.gov |date=2011-09-16 |accessdate=2011-10-23 |deadurl=no |archiveurl=https://web.archive.org/web/20111027111506/http://www.ninds.nih.gov/disorders/chiari/detail_chiari.htm#186143087 |archivedate=2011-10-27 |df= }}</ref> In fact, the cerebellum also tends to be smaller in individuals with spina bifida, especially for those with higher lesion levels.<ref name="Juranek & Salman"/>
The [[corpus callosum]] is abnormally developed in 70–90% of individuals with spina bifida myelomeningocele; this affects the communication processes between the left and right brain hemispheres.<ref name="Barkovich 2005">{{cite book|last=Barkovich|first=J|title=Pediatric Neuroimaging|year=2005|publisher=Lippincott, Williams & Wilkens|location=Philadelphia, PA}}</ref> Further, [[white matter]] tracts connecting posterior brain regions with anterior regions appear less organized. White matter tracts between frontal regions have also been found to be impaired.<ref name="Juranek & Salman"/>
[[Cerebral cortex|Cortex]] abnormalities may also be present. For example, [[frontal lobe|frontal regions]] of the brain tend to be thicker than expected, while posterior and parietal regions are thinner. Thinner sections of the brain are also associated with increased cortical folding.<ref name="Juranek & Salman"/> Neurons within the cortex may also be displaced.<ref name=Wills />
====Executive function====
Several studies have demonstrated difficulties with [[executive functions]] in youth with spina bifida,<ref name=Burmeister>{{cite journal|last=Burmeister|first=R|author2=Hannay HJ |author3=Copeland K |author4=Fletcher JM |author5=Boudousquie A |author6=Dennis M |title=Attention problems and executive functions in children with spina bifida and hydrocephalus|journal=Child Neuropsychology|year=2005|volume=11|pages=265–83|doi=10.1080/092970490911324|issue=3|pmid=16036451}}</ref><ref name="Tarazi 2008">{{cite journal|last=Tarazi|first=RA|author2=Zabel TA |author3=Mahone EM |title=Age-related changes in executive function among children with spina bifida/hydrocephalus based on parent behavior ratings|journal=The Clinical Neuropsychologist|year=2008|volume=22|issue=4|pages=585–602|doi=10.1080/13854040701425940|pmid=17853154|pmc=2575658}}</ref> with greater deficits observed in youth with shunted hydrocephalus.<ref name="Fletcher et al 1996">{{cite journal|last=Fletcher|first=JM|title=Attentional skills and executive functions in children with early hydrocephalus|journal=Developmental Neuropsychology|year=1996|volume=12|pages=53–76|name-list-format=vanc|author2=Brookshire BL|author3=Landry SH|author4=Bohan TP|author5=Davidson KC|author6=Francis DJ|display-authors=5|doi=10.1080/87565649609540640|last7=Levin|first7=Harvey S.|last8=Brandt|first8=Michael E.|last9=Kramer|first9=Larry A.|last10=Morris|first10=Robin D.|issue=1}}</ref> Unlike typically developing children, youths with spina bifida do not tend to improve in their executive functioning as they grow older.<ref name="Tarazi 2008" /> Specific areas of difficulty in some individuals include planning, organizing, initiating, and [[working memory]]. Problem-solving, [[abstraction]], and visual planning may also be impaired.<ref name="Snow 1999">{{cite journal|last=Snow|first=JH|title=Executive processes for children with spina bifida|journal=Children's Health Care|year=1999|volume=28|issue=3|pages=241–53|doi=10.1207/s15326888chc2803_3}}</ref> Further, children with spina bifida may have poor [[cognitive flexibility]]. Although executive functions are often attributed to the [[frontal lobe]]s of the brain, individuals with spina bifida have intact frontal lobes; therefore, other areas of the brain may be implicated.<ref name="Fletcher et al 1996" />
Individuals with spina bifida, especially those with shunted hydrocephalus, often have attention problems. Children with spina bifida and shunted hydrocephalus have higher rates of [[Attention deficit hyperactivity disorder|ADHD]] than children without those conditions (31% vs. 17%).<ref name=Burmeister /> Deficits have been observed for selective attention and focused attention, although poor motor speed may contribute to poor scores on tests of attention.<ref name="Fletcher et al 1996" /><ref name="Rose Holmbeck">{{cite journal|last=Rose|first=BM|author2=Holmbeck GN |title=Attention and executive functions in adolescents with spina bifida|journal=Journal of Pediatric Psychology|year=2007|volume=32|issue=8|pages=983–94|doi=10.1093/jpepsy/jsm042|pmid=17556398}}</ref> Attention deficits may be evident at a very early age, as [[infant]]s with spina bifida lag behind their peers in orienting to faces.<ref name="Landry et al">{{cite journal|last=Landry|first=SH|author2=Robinson SS |author3=Copeland D |author4=Garner PW |title=Goal-directed behavior and perception of self-competence in children with spina bifida|journal=Journal of Pediatric Psychology|year=1993|volume=18|issue=3|pages=389–96|doi=10.1093/jpepsy/18.3.389|pmid=8340846}}</ref>
====Academic skills====
Individuals with spina bifida may struggle academically, especially in the subjects of [[mathematics]] and [[reading (process)|reading]]. In one study, 60% of children with spina bifida were diagnosed with a learning disability.<ref name=Mayes_Calhoun>{{cite journal|last=Mayes|first=SD|author2=Calhoun, SL |title=Frequency of reading, math, and writing disabilities in children with clinical disorders|journal=Learning and Individual Differences|year=2006|volume=16|issue=2|pages=145–57|doi=10.1016/j.lindif.2005.07.004}}</ref> In addition to brain abnormalities directly related to various academic skills, achievement is likely affected by impaired attentional control and executive functioning.<ref name=Wills>{{cite journal|last=Wills|first=KE|title=Neuropsychological functioning in children with spina bifida and/or hydrocephalus|journal=Journal of Clinical Child Psychology|year=1993|volume=22|issue=2|pages=247–65|doi=10.1207/s15374424jccp2202_11}}</ref> Children with spina bifida may perform well in elementary school, but begin to struggle as academic demands increase.
Children with spina bifida are more likely than their peers without spina bifida to be [[dyscalculia|dyscalculic]].<ref name="Barnes et al., 2006">{{cite journal|last=Barnes|first=MA|author2=Wilkinson, M |author3=Khemani, E |author4=Boudesquie, A |author5=Dennis, M |author6=Fletcher, JM |title=Arithmetic processing in children with spina bifida: Calculation accuracy, strategy use, and fact retrieval fluency|journal=Journal of Learning Disabilities|year=2006|volume=39|issue=2|pages=174–87|doi=10.1177/00222194060390020601|pmid=16583797}}</ref> Individuals with spina bifida have demonstrated stable difficulties with arithmetic accuracy and speed, mathematical problem-solving, and general use and understanding of numbers in everyday life.<ref name=Dennis_2002>{{cite journal|last=Dennis|first=M|author2=Barnes, M |title=Math and numeracy in young adults with spina bifida and hydrocephalus|journal=Developmental Neuropsychology|year=2002|volume=21|issue=2|pages=141–55|doi=10.1207/S15326942DN2102_2|pmid=12139196}}</ref> Mathematics difficulties may be directly related to the thinning of the [[parietal lobe]]s (regions implicated in mathematical functioning) and indirectly associated with deformities of the [[cerebellum]] and [[midbrain]] that affect other functions involved in mathematical skills. Further, higher numbers of shunt revisions are associated with poorer mathematics abilities.<ref name="Hetherington 2006">{{cite journal|last=Hetherington|first=R|author2=Dennis M |author3=Barnes M |author4=Drake J |author5=Gentili J |title=Functional outcome in young adults with spina bifida and hydrocephalus|journal=Child's Nervous System|year=2006|volume=22|issue=2|pages=117–24|doi=10.1007/s00381-005-1231-4|pmid=16170574}}</ref> [[Working memory]] and inhibitory control deficiencies have been implicated for math difficulties,<ref name=English>{{cite journal|last=English|first=LH |author2=Barnes, MA |author3=Taylor, HB |author4=Landry, SH|title=Mathematical developmental development in spina bifida|journal=Developmental Disabilities Research Reviews|year=2009|volume=15|issue=1|pages=28–34|doi=10.1002/ddrr.48|pmid=19213013|pmc=3047453}}</ref> although visual-spatial difficulties are not likely involved.<ref name="Barnes et al., 2006" /> Early intervention to address mathematics difficulties and associated executive functions is crucial.<ref name=English />
Individuals with spina bifida tend to have better reading skills than mathematics skills.<ref name="Hetherington 2006" /> Children and adults with spina bifida have stronger abilities in reading accuracy than in reading comprehension.<ref name="Barnes et al 2004">{{cite journal|last=Barnes|first=M|author2=Dennis M |author3=Hetherington R |title=Reading and writing skills in young adults with spina bifida and hydrocephalus|journal=Journal of the International Neuropsychological Society|year=2004|volume=10|issue=5|pages=655–63|doi=10.1017/S1355617704105055|pmid=15327713}}</ref> Comprehension may be especially impaired for text that requires an abstract synthesis of information rather than a more literal understanding.<ref name="Fletcher et al 2004">{{cite book|vauthors=Fletcher JM, Dennis M, Northrup H, Barnes AM, Hannay HJ, Francis, DF|title=Spina bifida: Genes, brain, and development|year=2004|volume=29|pages=63–117|doi=10.1016/S0074-7750(04)29003-6|series=International Review of Research in Mental Retardation|isbn=9780123662293}}</ref> Individuals with spina bifida may have difficulty with writing due to deficits in fine motor control and working memory.<ref name="Barnes et al 2004"/>
==Cause==
Spina bifida is believed to be caused by a combination of genetic and environmental factors.<ref name=NIH2012Ca/> After having one child with the condition, or if a parent has the condition, there is a 4% chance the next child will also be affected.<ref name=NIH2012Epi/> A [[folic acid]] deficiency during pregnancy also plays a significant role.<ref name=NIH2012Ca/> Other risk factors include certain antiseizure medications, obesity, and poorly managed [[diabetes mellitus|diabetes]].<ref name=NIH2012Epi/> Drinking alcohol often triggers [[macrocytosis]] which discards [[Folic acid|folate]]. After stopping the drinking of [[alcohol]], a time period of months is needed to rejuvenate [[bone marrow]] and recover from the macrocytosis.<ref>{{cite web|title=it is more often due to direct toxicity of the alcohol on the marrow. The macrocytosis of alcoholism usually reverses only after months of abstinence from alcohol|url=http://emedicine.medscape.com/article/203858-overview#showall|deadurl=no|archiveurl=https://web.archive.org/web/20140715055248/http://emedicine.medscape.com/article/203858-overview#showall|archivedate=2014-07-15|df=}}</ref>
Those who are white or Hispanic have a higher risk.<!-- <ref name=Mayp2016/> --> Girls are more prone to being born with spina bifida.<ref name=Mayp2016>{{Cite web|url=http://www.mayoclinic.org/diseases-conditions/spina-bifida/basics/risk-factors/con-20035356|title=Spina bifida Risk factors - Mayo Clinic|website=www.mayoclinic.org|access-date=2016-11-29|deadurl=no|archiveurl=https://web.archive.org/web/20161129151458/http://www.mayoclinic.org/diseases-conditions/spina-bifida/basics/risk-factors/con-20035356|archivedate=2016-11-29|df=}}</ref>
==Pathophysiology==
Spina bifida is sometimes caused by the failure of the neural tube to close during the first month of [[embryo]]nic development (often before the mother knows she is pregnant). Some forms are known to occur with primary conditions that cause raised central nervous system pressure, raising the possibility of a dual pathogenesis.{{citation needed|date=December 2014}}
In normal circumstances, the closure of the neural tube occurs around the 23rd (rostral closure) and 27th (caudal closure) day after [[fertilization]].<ref name="paediatrics"/> However, if something interferes and the tube fails to close properly, a neural tube defect will occur. Medications such as some [[anticonvulsants]], [[diabetes]], [[obesity]], and having a relative with spina bifida can all affect the probability of neural tube malformation.
Extensive evidence from mouse strains with spina bifida indicates that there is sometimes a genetic basis for the condition. Human spina bifida, like other human diseases, such as [[cancer]], [[hypertension]] and [[atherosclerosis]] (coronary artery disease), likely results from the interaction of multiple [[gene]]s and environmental factors.{{citation needed|date=December 2014}}
Research has shown the lack of [[folic acid]] (folate) is a contributing factor in the pathogenesis of neural tube defects, including spina bifida. Supplementation of the mother's diet with folate can reduce the incidence of neural tube defects by about 70%, and can also decrease the severity of these defects when they occur.<ref>{{cite journal |author=Holmes LB |title=Does taking vitamins at the time of conception prevent neural tube defects? |journal=JAMA |volume=260 |issue=21 |page=3181 |year=1988 |pmid=3184398|doi=10.1001/jama.260.21.3181}}</ref><ref>{{cite journal |author=Milunsky A |title=Multivitamin/folic acid supplementation in early pregnancy reduces the prevalence of neural tube defects |journal=JAMA |volume=262 |issue=20 |pages=2847–52 |year=1989 |pmid=2478730|doi=10.1001/jama.262.20.2847 |name-list-format=vanc|author2=Jick H |author3=Jick SS |display-authors=3 |last4=Bruell |first4=CL |last5=MacLaughlin |first5=DS |last6=Rothman |first6=KJ |last7=Willett |first7=W}}</ref><ref>{{cite journal |vauthors=Mulinare J, Cordero JF, Erickson JD, Berry RJ |title=Periconceptional use of multivitamins and the occurrence of neural tube defects |journal=JAMA |volume=260 |issue=21 |pages=3141–45 |year=1988 |pmid=3184392|doi=10.1001/jama.1988.03410210053035 }}</ref> It is unknown how or why folic acid has this effect.
Spina bifida does not follow direct patterns of [[heredity]] as do [[muscular dystrophy]] or [[haemophilia]]. Studies show a woman having had one child with a neural tube defect such as spina bifida has about a 3% risk of having another affected child. This risk can be reduced with folic acid supplementation before pregnancy. For the general population, low-dose folic acid supplements are advised (0.4 mg/day).{{Citation needed|date=August 2010}}
==Prevention==
There is neither a single cause of spina bifida nor any known way to prevent it entirely. However, dietary supplementation with [[folic acid]] has been shown to be helpful in reducing the incidence of spina bifida. Sources of folic acid include [[whole grain]]s, fortified [[breakfast cereal]]s, dried [[bean]]s, [[leaf vegetable]]s and [[fruit]]s.<ref>{{cite web | title=Folic Acid Fortification | url=http://vm.cfsan.fda.gov/~dms/wh-folic.html | date=February 1996 | publisher=FDA | deadurl=yes | archiveurl=https://web.archive.org/web/20090918145502/http://vm.cfsan.fda.gov/~dms/wh-folic.html | archivedate=2009-09-18 | df= }}</ref>
Folate fortification of enriched grain products has been mandatory in the United States since 1998. The [[U.S. Food and Drug Administration]], [[Public Health Agency of Canada]]<ref>{{cite web|url=http://www.phac-aspc.gc.ca/fa-af/index.html |title=Folic Acid - Public Health Agency of Canada |deadurl=yes |archiveurl=https://web.archive.org/web/20060927020340/http://www.phac-aspc.gc.ca/fa-af/index.html |archivedate=2006-09-27 |df= }}</ref> and UK recommended amount of folic acid for women of childbearing age and women planning to become pregnant is at least 0.4 mg/day of folic acid from at least three months before [[Conception (biology)|conception]], and continued for the first 12 weeks of pregnancy.<ref name="NHSdirect">{{cite web | title=Why do I need folic acid? | url=http://www.nhsdirect.nhs.uk/articles/article.aspx?articleId=913 | date=2006-04-27 | publisher=NHS Direct | accessdate=2006-08-19 |archiveurl = https://web.archive.org/web/20060413083456/http://www.nhsdirect.nhs.uk/articles/article.aspx?articleId=913 |archivedate = April 13, 2006}}</ref>
Women who have already had a baby with spina bifida or other type of neural tube defect, or are taking [[anticonvulsant]] medication, should take a higher dose of 4–5 mg/day.<ref name="NHSdirect"/>
Certain mutations in the gene ''VANGL1'' have been linked with spina bifida in some families with a history of the condition.<ref name="pmid17409324">{{cite journal|vauthors=Kibar Z, Torban E, McDearmid JR, Reynolds A, Berghout J, Mathieu M, Kirillova I, De Marco P, Merello E, Hayes JM, Wallingford JB, Drapeau P, Capra V, Gros P |title=Mutations in VANGL1 associated with neural-tube defects |journal=N. Engl. J. Med. |volume=356 |issue=14 |pages=1432–37 |year=2007 |pmid=17409324 |doi=10.1056/NEJMoa060651 }}</ref>
==Screening==
Open spina bifida can usually be detected during pregnancy by fetal [[ultrasound]]. Increased levels of maternal serum alpha-fetoprotein (MSAFP) should be followed up by two tests – an [[ultrasound]] of the fetal spine and [[amniocentesis]] of the mother's amniotic fluid (to test for [[alpha-fetoprotein]] and [[acetylcholinesterase]]). AFP tests are now mandated by some state laws (including [[California]]). and failure to provide them can have legal ramifications. In one case, a man born with spina bifida was awarded a $2-million settlement after court found his mother's [[OBGYN]] negligent for not performing these tests.<ref>{{Cite web |url=http://www.boothkoskoff.com/wp-content/uploads/2013/01/spina_bifida.pdf |title=Medical malpractice: Childbirth, failed to perform AFP test |deadurl=no |archiveurl=https://web.archive.org/web/20160303182100/http://www.boothkoskoff.com/wp-content/uploads/2013/01/spina_bifida.pdf |archivedate=2016-03-03 |df= }}</ref> Spina bifida may be associated with other malformations as in dysmorphic syndromes, often resulting in spontaneous [[miscarriage]]. In the majority of cases, though, spina bifida is an isolated malformation.
[[Genetic counseling]] and further [[genetic testing]], such as amniocentesis, may be offered during the pregnancy, as some neural tube defects are associated with genetic disorders such as [[trisomy 18]]. Ultrasound screening for spina bifida is partly responsible for the decline in new cases, because many pregnancies are [[abortion|terminated]] out of fear that a newborn might have a poor future [[quality of life]]. With modern medical care, the quality of life of patients has greatly improved.<ref name="paediatrics"/>
<gallery>
File:3D sonogram of fetal spine.tif|Three-dimensional ultrasound image of the fetal spine at 21 weeks of pregnancy
File:Spina bifida lombare sagittale.theora.ogv|Ultrasound view of the fetal spine at 21 weeks of pregnancy. In the longitudinal scan a lumbar myelomeningocele is seen.
File:Lemon and banana sign for neural tube defect Dr Wolfgang Moroder.theora.ogv|[[Anatomy scan]] of the fetal head at 20 weeks of pregnancy in a fetus affected by spina bifida. In the axial scan the characteristic ''lemon sign'' and ''banana sign'' are seen.
</gallery>
==Treatment==
There is no known cure for nerve damage caused by spina bifida. Standard treatment is surgery after delivery. This surgery aims to prevent further damage of the nervous tissue and to prevent infection; [[pediatric]] [[neurosurgeons]] operate to close the opening on the back. The spinal cord and its nerve roots are put back inside the spine and covered with [[meninges]]. In addition, a [[shunt (medical)|shunt]] may be surgically installed to provide a continuous drain for the excess cerebrospinal fluid produced in the brain, as happens with [[hydrocephalus]]. Shunts most commonly drain into the [[abdomen]] or chest wall.
===Pregnancy===
Standard treatment is after delivery. There is tentative evidence about treatment for severe disease before delivery while the baby is inside the womb.<ref name=Ad2013>{{cite journal|last1=Adzick|first1=NS|title=Fetal surgery for spina bifida: past, present, future.|journal=Seminars in Pediatric Surgery|date=February 2013|volume=22|issue=1|pages=10–17|pmid=23395140|pmc=6225063|doi=10.1053/j.sempedsurg.2012.10.003}}</ref> As of 2014 the evidence; however, remains insufficient to determine benefits and harms.<ref>{{cite journal|last1=Grivell|first1=RM|last2=Andersen|first2=C|last3=Dodd|first3=JM|title=Prenatal versus postnatal repair procedures for spina bifida for improving infant and maternal outcomes.|journal=Cochrane Database of Systematic Reviews|date=28 October 2014|volume=10|issue=10|page=CD008825|pmid=25348498|doi=10.1002/14651858.CD008825.pub2}}</ref>
Treatment of spina bifida during pregnancy is not without risk.<ref name=Ad2013/> To the mother, this includes scarring of the uterus.<ref name=Ad2013/> To the baby, there is the risk of preterm birth.<ref name=Ad2013/>
Broadly, there are two forms of prenatal treatment. The first is open fetal surgery, where the uterus is opened and the spina bifida repair performed. The second is via fetoscopy. These techniques may be an option to standard therapy.<ref>{{cite journal|last1=Joyeux|first1=L|last2=Chalouhi|first2=GE|last3=Ville|first3=Y|last4=Sapin|first4=E|title=[Maternal-fetal surgery for spina bifida: future perspectives].|journal=Journal de Gynécologie, Obstétrique et Biologie de la Reproduction|date=June 2014|volume=43|issue=6|pages=443–54|pmid=24582882|doi=10.1016/j.jgyn.2014.01.014}}</ref>
===Childhood===
Most individuals with myelomeningocele will need periodic evaluations by a variety of specialists:<ref name="Gillette Children's">{{cite web|title=Center for Spina Bifida: Specialists and Services |url=http://www.gillettechildrens.org/default.cfm?PID=1.17.1.8 |work=Gillette Children's Hospital Center for Spina Bifida |publisher=Gillette Children's Hospital |accessdate=15 November 2011 |deadurl=yes |archiveurl=https://web.archive.org/web/20101219045513/http://www.gillettechildrens.org/default.cfm?PID=1.17.1.8 |archivedate=19 December 2010 |df= }}</ref>
* [[physiatry|Physiatrists]] coordinate the rehabilitation efforts of different therapists and prescribe specific therapies, adaptive equipment, or medications to encourage as high of a functional performance within the community as possible.
* [[orthopedic surgery|Orthopedists]] monitor growth and development of bones, muscles, and joints.
* [[neurosurgery|Neurosurgeons]] perform surgeries at birth and manage complications associated with tethered cord and hydrocephalus.
* [[neurology|Neurologists]] treat and evaluate nervous system issues, such as seizure disorders.
* [[urology|Urologists]] to address kidney, bladder, and bowel dysfunction – many will need to manage their urinary systems with a program of [[catheterization]]. Bowel management programs aimed at improving elimination are also designed.
* [[Ophthalmology|Ophthalmologists]] evaluate and treat complications of the eyes.
* [[orthotics|Orthotists]] design and customize various types of assistive technology, including braces, crutches, walkers, and wheelchairs to aid in mobility. As a general rule, the higher the level of the spina bifida defect, the more severe the paralysis, but paralysis does not always occur. Thus, those with low levels may need only short leg braces, whereas those with higher levels do best with a wheelchair, and some may be able to walk unaided.
* [[physical therapy|Physical therapists]], [[occupational therapy|occupational therapists]], [[psychology|psychologists]], and [[speech and language pathology|speech/language pathologists]] aid in rehabilitative therapies and increase independent living skills.
===Transition to adulthood===
Although many [[children's hospital]]s feature integrated multidisciplinary teams to coordinate healthcare of youth with spina bifida, the transition to adult healthcare can be difficult because the above healthcare professionals operate independently of each other, requiring separate appointments, and communicate among each other much less frequently. Healthcare professionals working with adults may also be less knowledgeable about spina bifida because it is considered a childhood chronic health condition.<ref name="Binks et al">{{cite journal|last=Binks|first=JA|author2=Barden WS |author3=Burke TA |author4=Young NL |title=What do we really know about the transition to adult-centered health care? A focus on cerebral palsy and spina bifida|journal=Archives of Physical Medicine and Rehabilitation|year=2007|volume=88|issue=8|pages=1064–73|doi=10.1016/j.apmr.2007.04.018|pmid=17678671}}</ref> Due to the potential difficulties of the transition, adolescents with spina bifida and their families are encouraged to begin to prepare for the transition around ages 14–16, although this may vary depending on the adolescent's cognitive and physical abilities and available family support. The transition itself should be gradual and flexible. The adolescent's multidisciplinary treatment team may aid in the process by preparing comprehensive, up-to-date documents detailing the adolescent's medical care, including information about medications, surgery, therapies, and recommendations. A transition plan and aid in identifying adult healthcare professionals are also helpful to include in the transition process.<ref name="Binks et al" />
Further complicating the transition process is the tendency for youths with spina bifida to be delayed in the development of autonomy,<ref name="Davis et al 2006">{{cite journal|last=Davis|first=BE|author2=Shurtleff DB |author3=Walker WO |author4=Seidel KD |author5=Duguay S |title=Acquisition of autonomy skills in adolescents with myelomeningocele|journal=Developmental Medicine & Child Neurology|year=2006|volume=48|issue=4|pages=253–58|doi=10.1017/S0012162206000569|pmid=16542511}}</ref> with boys particularly at risk for slower development of independence.<ref name="Friedman 2009">{{cite journal|last=Friedman|first=D|author2=Holmbeck GN |author3=DeLucia C |author4=Jandasek B |author5=Zebracki K |title=Trajectories of autonomy development across the adolescent transition in children with spina bifida|journal=Rehabilitation Psychology|year=2009|volume=54|issue=1|pages=16–27|doi=10.1037/a0014279|pmid=19618699}}</ref> An increased dependence on others (in particular family members) may interfere with the adolescent's self-management of health-related tasks, such as catheterization, bowel management, and taking medications.<ref name="Monsen 1992">{{cite journal|last=Monsen|first=RB|title=Autonomy, coping, and self-care agency in healthy adolescents and in adolescents with spina bifida|journal=Journal of Pediatric Nursing|year=1992|volume=7|issue=1|pages=9–13|pmid=1548569}}</ref> As part of the transition process, it is beneficial to begin discussions at an early age about educational and vocational goals, independent living, and community involvement.<ref name="Holmbeck & Devine 2010">{{cite journal|last=Holmbeck|first=GN|author2=Devine KA |title=Psychosocial and family functioning in spina bifida|journal=Developmental Disabilities Research Reviews|year=2010|volume=16|issue=1|pages=40–46|doi=10.1002/ddrr.90|pmid=20419770|pmc=2926127}}</ref>
==Epidemiology==
About 15% of people have spina bifida occulta.<ref name=NIH2017/> Rates of other types of spina bifida vary significantly by country from 0.1 to 5 per 1000 births.<ref name="Springer"/> On average in developed countries it occurs in about 0.4 per 1000 births.<ref name="ReferenceB"/> In the United States it affected about 0.7 per 1000 births,<ref name=NIH2012Epi/> and in India about 1.9 per 1000 births.<ref name="ReferenceC"/> Part of this difference is believed to be due to race, with [[Caucasian race|Caucasians]] at higher risk, and part due to environmental factors.<ref name="Newborn surgery"/>
In the United States, rates are higher on the East Coast than on the West Coast, and higher in white people (one case per 1000 live births) than in black people (0.1–0.4 case per 1000 live births). Immigrants from Ireland have a higher incidence of spina bifida than do natives.<ref name="Lemire">{{cite journal | author = Lemire RJ | year = 1988 |title = Neural tube defects | url = | journal = [[Journal of the American Medical Association|JAMA]] | volume = 259 | issue = 4|pages = 558–62 | pmid = 3275817 | doi = 10.1001/jama.259.4.558 }}</ref><ref name="Cotton">{{cite journal | author = Cotton P | year = 1993 | title = Finding neural tube 'zippers' may let geneticists tailor prevention of defects | url = | journal = JAMA | volume = 270| issue = 14| pages = 1663–4 | pmid = 8411482 | doi = 10.1001/jama.270.14.1663 }}</ref> Highest rates of the defect in the USA can be found in Hispanic youth.<ref>{{cite journal|vauthors=Boulet SL, Yang Q, Mai C, Kirby RS, Collins JS, Robbins JM, Mulinare J|title=Trends in postfortification prevalence of spina bifida and ancephaly in the United States|journal=Birth Defects Research, Part A|year=2008|volume=82|pages=527–32|doi=10.1002/bdra.20468|pmid=18481813|issue=7}}</ref>
The highest incidence rates worldwide were found in Ireland and Wales, where three to four cases of myelomeningocele per 1000 population have been reported during the 1970s, along with more than six cases of [[anencephaly]] (both live births and [[stillbirth]]s) per 1000 population. The reported overall incidence of myelomeningocele in the British Isles was 2.0–3.5 cases per 1000 births.<ref name="Lemire"/><ref name="Cotton"/> Since then, the rate has fallen dramatically with 0.15 per 1000 live births reported in 1998,<ref name="paediatrics">T. Lissauer, G. Clayden. Illustrated Textbook of Paediatrics (Second Edition). Mosby, 2003. {{ISBN|0-7234-3178-7}}</ref> though this decline is partially accounted for because some fetuses are aborted when tests show signs of spina bifida (see [[Spina bifida#Pregnancy screening|Pregnancy screening]] above).
==Research==
*1980 – Fetal surgical techniques using animal models were first developed at the [[University of California, San Francisco]] by Michael R. Harrison, [[N. Scott Adzick]] and research colleagues.
*1994 – A surgical model that simulates the human disease is the fetal lamb model of myelomeningocele (MMC) introduced by Meuli and Adzick in 1994. The MMC-like defect was surgically created at 75 days of gestation (term 145 to 150 days) by a lumbo-sacral [[laminectomy]]. Approximately 3 weeks after creation of the defect a reversed [[latissimus dorsi]] flap was used to cover the exposed [[neural placode]] and the animals were delivered by cesarean section just prior term. Human MMC-like lesions with similar [[neurological deficit]] were found in the control newborn lambs. In contrast, animals that underwent closure had near-normal neurological function and well-preserved [[cytoarchitecture]] of the covered spinal cord on [[histopathology|histopathological examination]]. Despite mild [[paraparesis]], they were able to stand, walk, perform demanding motor test and demonstrated no signs of incontinence. Furthermore, sensory function of the hind limbs was present clinically and confirmed electrophysiologically. Further studies showed that this model, when combined with a lumbar spinal cord [[myelotomy]] leads to the hindbrain herniation characteristic of the Chiari II malformation and that in utero surgery restores normal hindbrain anatomy by stopping the leak of cerebrospinal fluid through the myelomeningocele lesion.<ref>{{cite journal|last=Meuli|first=M|author2=Meuli-Simmen, C |author3=Hutchins, GM |author4=Yingling, CD |author5=Hoffman, KM |author6=Harrison, MR |author7= Adzick, NS |title=In utero surgery rescues neurological function at birth in sheep with spina bifida.|journal=Nature Medicine|date=April 1995|volume=1|issue=4|pages=342–47|pmid=7585064|doi=10.1038/nm0495-342}}</ref><ref>{{cite journal|pmid=11084552|year=2000|last1=Paek|first1=BW|last2=Farmer|first2=DL|last3=Wilkinson|first3=CC|last4=Albanese|first4=CT|last5=Peacock|first5=W|last6=Harrison|first6=MR|last7=Jennings|first7=RW|title=Hindbrain herniation develops in surgically created myelomeningocele but is absent after repair in fetal lambs|volume=183|issue=5|pages=1119–23|doi=10.1067/mob.2000.108867|journal=American Journal of Obstetrics and Gynecology}}</ref><ref>{{cite journal|last=Bouchard|first=S|author2=Davey, MG |author3=Rintoul, NE |author4=Walsh, DS |author5=Rorke, LB |author6= Adzick, NS |title=Correction of hindbrain herniation and anatomy of the vermis after in utero repair of myelomeningocele in sheep|journal=Journal of Pediatric Surgery|date=March 2003|volume=38|issue=3|pages=451–58|pmid=12632366|doi=10.1053/jpsu.2003.50078}}</ref><ref>{{cite journal|last=Meuli|first=M|author2=Meuli-Simmen, C |author3=Yingling, CD |author4=Hutchins, GM |author5=Timmel, GB |author6=Harrison, MR |author7= Adzick, NS |title=In utero repair of experimental myelomeningocele saves neurological function at birth|journal=Journal of Pediatric Surgery|date=March 1996|volume=31|issue=3|pages=397–402|pmid=8708911|doi=10.1016/S0022-3468(96)90746-0}}</ref>
Surgeons at [[Vanderbilt University]], led by Joseph Bruner, attempted to close spina bifida in 4 human fetuses using a skin graft from the mother using a [[laparoscope]]. Four cases were performed before stopping the procedure - two of the four fetuses died.<ref>{{cite journal|last=Bruner|first=JP|author2=Richards, WO |author3=Tulipan, NB |author4= Arney, TL |title=Endoscopic coverage of fetal myelomeningocele in utero|journal=American Journal of Obstetrics and Gynecology|date=January 1999|volume=180|issue=1 Pt 1|pages=153–58|pmid=9914596|doi=10.1016/S0002-9378(99)70167-5}}</ref>
*1998 – N. Scott Adzick and team at The Children's Hospital of Philadelphia performed open fetal surgery for spina bifida in an early gestation fetus (22-week gestation fetus) with a successful outcome.<ref>{{cite journal|last=Adzick|first=N Scott|author2=Sutton, Leslie N |author3=Crombleholme, Timothy M |author4= Flake, Alan W |title=Successful fetal surgery for spina bifida|journal=The Lancet|volume=352|issue=9141|pages=1675–76|doi=10.1016/S0140-6736(98)00070-1|pmid=9853442|year=1998}}</ref> Open fetal surgery for myelomeningocele involves surgically opening the pregnant mother's abdomen and uterus to operate on the fetus. The exposed fetal spinal cord is covered in layers with surrounding fetal tissue at mid-gestation (19–25 weeks) to protect it from further damage caused by prolonged exposure to amniotic fluid. Between 1998 and 2003, Dr. Adzick, and his colleagues in the Center for Fetal Diagnosis and Treatment at The Children's Hospital Of Philadelphia, performed prenatal spina bifida repair in 58 mothers and observed significant benefit in the babies.
Fetal surgery after 25 weeks has not shown benefit in subsequent studies.<ref>{{cite journal|last=Tubbs|first=RS|author2=Chambers, MR |author3=Smyth, MD |author4=Bartolucci, AA |author5=Bruner, JP |author6=Tulipan, N |author7= Oakes, WJ |title=Late gestational intrauterine myelomeningocele repair does not improve lower extremity function|journal=Pediatric Neurosurgery|date=March 2003|volume=38|issue=3|pages=128–32|pmid=12601237|doi=10.1159/000068818}}</ref>
===MOMS trial===
[[MOMS Trial|Management of myelomeningocele study]] (MOMS) was a [[Clinical trial|phase III clinical trial]] designed to compare two approaches to the treatment of spina bifida: surgery before birth and surgery after birth.<ref>{{cite web |url=http://www.spinabifidamoms.com/english/overview.html |title=Background of Management of Myelomeningocele Study (MOMS) |publisher=The GWU Biostatistics Center |accessdate=2012-08-06 |deadurl=no |archiveurl=https://web.archive.org/web/20120923022339/http://www.spinabifidamoms.com/english/overview.html |archivedate=2012-09-23 |df= }}</ref><ref>{{cite web |url=http://clinicaltrials.gov/ct/show/NCT00060606 |title=Management of Myelomeningocele Study (MOMS) |publisher=ClinicalTrials.gov |accessdate=2012-08-06 |deadurl=no |archiveurl=https://web.archive.org/web/20150908070835/https://clinicaltrials.gov/ct/show/NCT00060606 |archivedate=2015-09-08 |df= }}</ref>
The trial concluded that the outcomes after prenatal spina bifida treatment are improved to the degree that the benefits of the surgery outweigh the maternal risks. This conclusion requires a value judgment on the relative value of fetal and maternal outcomes on which opinion is still divided.<ref>{{cite journal|last=Adzick|first=NS|title=A Randomized Trial of Prenatal versus Postnatal Repair of Myelomeningocele |journal=New England Journal of Medicine|date=February 9, 2011|series=Online First|doi=10.1056/NEJMoa1014379 |pmid=21306277|last2=Thom|first2=Elizabeth A.|last3=Spong|first3=Catherine Y.|last4=Brock|first4=John W.|last5=Burrows|first5=Pamela K.|last6=Johnson|first6=Mark P.|last7=Howell|first7=Lori J.|last8=Farrell|first8=Jody A.|last9=Dabrowiak|first9=Mary E.|volume=364|last10=Sutton|first10=Leslie N.|last11=Gupta|first11=Nalin|last12=Tulipan|first12=Noel B.|last13=d'Alton|first13=Mary E.|last14=Farmer|first14=Diana L.|last15=Moms|first15=Investigators|issue=11|pages=993–1004|display-authors=8|pmc=3770179}}</ref>
To be specific, the study found that prenatal repair resulted in:
* Reversal of the hindbrain herniation component of the Chiari II malformation
* Reduced need for ventricular shunting (a procedure in which a thin tube is introduced into the brain's ventricles to drain fluid and relieve hydrocephalus)
* Reduced incidence or severity of potentially devastating [[neurologic]] effects caused by the spine's exposure to amniotic fluid, such as impaired motor function
<ref name="nejm.org">{{cite journal | doi=10.1056/NEJMoa1014379 | pmid=21306277 | volume=364 |issue = 11| title=A randomized trial of prenatal versus postnatal repair of myelomeningocele | pmc=3770179 | year=2011 | journal=N. Engl. J. Med. | pages=993–1004 | author=Adzick NS, Thom EA, Spong CY, Brock JW, Burrows PK, Johnson MP, Howell LJ, Farrell JA, Dabrowiak ME, Sutton LN, Gupta N, Tulipan NB, D'Alton ME, Farmer DL | df= }}</ref>
At one year of age, 40 percent of the children in the prenatal surgery group had received a shunt, compared to 83 percent of the children in the postnatal group. During pregnancy, all the fetuses in the trial had hindbrain herniation. However, at age 12 months, one-third (36 percent) of the infants in the prenatal surgery group no longer had any evidence of hindbrain herniation, compared to only 4 percent in the postnatal surgery group.<ref name="nejm.org"/> Further surveillance is ongoing.<ref>{{cite web |title=Management of Myelomeningocele Study (MOMS) |url=http://clinicaltrials.gov/show/NCT00060606 |deadurl=no |archiveurl=https://web.archive.org/web/20160305074402/https://clinicaltrials.gov/show/NCT00060606 |archivedate=2016-03-05 |df= }}</ref>
===Fetoscopic surgery===
{{See also|Fetal surgery}}
In contrast to the open fetal operative approach performed in the MOMS trial, a minimally invasive fetoscopic approach (akin to 'keyhole' surgery) has been developed. This approach has been evaluated by independent authors of a controlled study which showed some benefit in survivors,<ref name="VERBEEK 2011 15–22">{{cite journal|doi=10.1111/j.1469-8749.2011.04148.x | title=Fetal endoscopic myelomeningocele closure preserves segmental neurological function | journal=Developmental Medicine | date=2011 | volume=54 | issue=1 | pages=15–22 | first=Renate J | last=Verbeek | pmid=22126123}}</ref> but others are more skeptical.<ref>{{cite journal|last1=Shurtleff|first1=David|title=Fetal endoscopic myelomeningocele repair|journal=Developmental Medicine & Child Neurology|volume=54|issue=1|pages=4–5|doi=10.1111/j.1469-8749.2011.04141.x|pmid=22126087|date=2011}}</ref>
The observations in mothers and their fetuses that were operated over the past two and a half years by the matured minimally invasive approach showed the following results: Compared to the open fetal surgery technique, fetoscopic repair of myelomeningocele results in far less surgical trauma to the mother, as large incisions of her abdomen and uterus are not required. In contrast, the initial punctures have a diameter of 1.2 mm only. As a result, thinning of the uterine wall or [[Wound dehiscence|dehiscence]] which have been among the most worriesome and criticized complications after the open operative approach do not occur following minimally invasive fetoscopic closure of spina bifida aperta. The risks of maternal [[chorioamnionitis]] or fetal death as a result of the fetoscopic procedure run below 5%.<ref>{{cite journal|last=Verbeek|first=R|title=Does fetal endoscopic closure of the myelomeningocele prevent loss of neurologic function in spina bifida aperta?|journal=Cerebrospinal Fluid Research|date=15 December 2010|volume=7|issue=1|pages=S18|doi=10.1186/1743-8454-7-S1-S18|name-list-format=vanc|author2=Heep A|author3=Maurits N|display-authors=2|last4=Cremer|first4=Reinhold|last5=Brouwer|first5=Oebele|last6=Van Der Hoeven|first6=Johannes|last7=Sival|first7=Deborah|df=}}</ref><ref>{{cite journal|vauthors=Farmer DL, von Koch CS, Peacock WJ, Danielpour M, Gupta N, Lee H, Harrison MR|title=In utero repair of myelomeningocele: experimental pathophysiology, initial clinical experience, and outcomes|journal=Arch Surg|year=2003|volume=138|pages=872–78|issue=8|doi=10.1001/archsurg.138.8.872|pmid=12912746|df=}}</ref><ref>{{cite journal|vauthors=Kohl T, Gembruch U |title=Current status and prospects of fetoscopic surgery for spina bifida in human fetuses|journal=Fetal Diagn Ther|year=2008|volume=24|pages=318–20| doi = 10.1159/000158549|issue=3|pmid=18832851}}</ref> Women are discharged home from hospital one week after the procedure. There is no need for chronic administration of [[tocolytic agent]]s since postoperative uterine contractions are barely ever observed. The current cost of the entire fetoscopic procedure, including hospital stay, drugs, perioperative clinical, ECG, ultrasound and MRI-examinations, is approximately €16,000.
In 2012, these results of the fetoscopic approach were presented at various national and international meetings, among them at the 1st European Symposium “Fetal Surgery for Spina bifida“ in April 2012 in [[Giessen]], at the 15th Congress of the [[German Society for Prenatal Medicine and Obstetrics]] in May 2012 in Bonn,<ref>{{cite web |url=http://www.dzft.de/?page_id=1420 |archive-url=https://web.archive.org/web/20140116104227/http://www.dzft.de/?page_id=1420 |dead-url=yes |archive-date=2014-01-16 |title=DZFT beim Kongress DGPGM | DZFT |publisher=Dzft.de |accessdate=2012-11-14 }}</ref> at the World Congress of the Fetal Medicine Foundation in June 2012<ref>{{cite web |url=http://www.fetalmedicine.com/fmf/courses-congress/conferences/ |title=The Fetal Medicine Foundation / FMF World Congress |publisher=Fetalmedicine.com |accessdate=2012-11-14 |deadurl=no |archiveurl=https://web.archive.org/web/20121124020349/http://www.fetalmedicine.com/fmf/courses-congress/conferences/ |archivedate=2012-11-24 |df= }}</ref> and at the World Congress of the [[International Society of Ultrasound in Obstetrics and Gynecology|International Society of Obstetrics and Gynecology]] (ISUOG) in [[Copenhagen]] in September 2012,<ref>{{cite web |url=http://www.isuog.org/WorldCongress/2012/ |title=World Congress 2012 |publisher=ISUOG |date=2012-09-13 |accessdate=2012-11-14 |deadurl=no |archiveurl=https://web.archive.org/web/20121115005300/http://www.isuog.org/WorldCongress/2012/ |archivedate=2012-11-15 |df= }}</ref> and published in abstract form.<ref>{{cite journal |vauthors=Degenhardt J, Schürg R, Kawecki A, Pawlik M, Enzensberger C, Stressig R, Tchatcheva K, Axt-Fliedner R, Kohl T, etal | year = 2012 | title = Mütterliches Outcome nach minimal-invasivem Verschluss einer Spina bifida | url = | journal = Ultraschall in Med | volume = 33 | issue = | page = S96 | doi = 10.1055/s-0032-1322728 }}</ref><ref>Degenhardt J, Schürg R, Kawecki A, Pawlik M, Enzensberger C, Stressig R, Axt-Fliedner R, Kohl T. "Maternal outcome after minimally-invasive fetoscopic surgery for spina bifida. The Giessen experience 2010–2012. ''Ultrasound Obstet Gynecol'' 2012; 40 (Suppl. 1) 9</ref><ref>{{cite journal |vauthors=Neubauer B, Degenhardt J, Axt-Fliedner R, Kohl T | year = 2012 | title = Frühe neurologische Befunde von Säuglingen nach minimal-invasivem fetoskopischen Verschluss ihrer Spina bifida aperta | url = | journal = Z Geburtsh Neonat | volume = 216 | issue = 2| page = 87 | doi=10.1055/s-0032-1309110}}</ref><ref>Kohl T, Kawecki A, Degenhardt J, Axt-Fliedner R, Neubauer B. "Early neurological findings in 20 infants after minimally-invasive fetoscopic surgery for spina bifida at the University of Giessen 2010–2011. ''Ultrasound Obstet Gynecol'' 2012; 40 (Suppl. 1) 9</ref><ref>Kohl T, Schürg R, Maxeiner H, Tchatcheva K, Degenhardt J, Stressig R, Axt-Fliedner R, Gembruch U. "Partial carbon dioxide insufflation (PACI) during fetoscopic surgery on 60 fetuses with spina bifida. ''Ultrasound Obstet Gynecol'' 2012; 40 (Suppl. 1) 73–74</ref><ref>Kohl T, Kawecki A, Degenhardt J, Axt-Fliedner R. "Preoperative sonoanatomic examination of fetal spina bifida permits prediction of surgical complexity during subsequent minimally-invasive fetoscopic closure. ''Ultrasound Obstet Gynecol'' 2012; 40 (Suppl. 1) 8</ref><ref>{{cite journal |vauthors=Degenhardt J, Kawecki A, Enzensberger C, Stressig R, Axt-Fliedner R, Kohl T | year = 2012 | title = Rückverlagerung der Chiari-II Malformation innerhalb weniger Tage nach minimal-invasivem Patchverschluss ans Hinweis für einen effektiven Verschluss der Fehlbildung | url = | journal = Ultraschall in Med | volume = 33 | issue = | page = S95 | doi = 10.1055/s-0032-1322725 }}</ref><ref>Degenhardt J, Kawecki A, Enzensberger C, Stressig R, Axt-Fliedner R, Kohl T. "Reversal of hindbrain herniation within a few days after minimally-invasive fetoscopic surgery for spina bifida indicates the desired water-tight closure of the lesion. ''Ultrasound Obstet Gynecol'' 2012; 40 (Suppl. 1) 74</ref>
Since then more data has emerged. In 2014, two papers were published on fifty one patients.<ref>{{cite journal | author = Kohl Thomas | year = 2014 | title = Percutaneous minimally invasive fetoscopic surgery for spina bifida aperta. Part I: surgical technique and perioperative outcome | url = | journal = Ultrasound Obstet Gynecol | volume = 44 | issue = 5| pages = 515–24 | doi=10.1002/uog.13430| pmid = 24891102 }}</ref><ref>{{cite journal | author = Degenhardt J | year = 2014 | title = Percutaneous minimal-access fetoscopic surgery for spina aperta. Part II: maternal management and outcome | url = | journal = Ultrasound Obstet Gynecol | volume = 44 | issue = 5| pages = 525–31 | doi=10.1002/uog.13389|display-authors=etal}}</ref> These papers suggested that the risk to the mother is small. The main risk appears to be preterm labour, on average at about 33 weeks.
==See also==
* [[Rachischisis]]
* [[Congenital dermal sinus]]
==References==
{{Reflist}}
==External links==
*{{dmoz|Health/Conditions_and_Diseases/Neurological_Disorders/Congenital_Anomalies/Spina_Bifida/}}
*[https://www.cdc.gov/ncbddd/spinabifida/index.html CDC: Spina bifida]
{{Medical condition classification and resources
| DiseasesDB = 12306
| ICD10 = {{ICD10|Q|05||q|00}}, {{ICD10|Q|76|0|q|65}}
| ICD9 = {{ICD9|741}}, {{ICD9|756.17}}
| ICDO =
| OMIM = 182940
| MedlinePlus =
| eMedicineSubj = orthoped
| eMedicineTopic = 557
| MeshName = Spina+Bifida
| MeshNumber = C10.500.680.800
}}
{{Congenital malformations and deformations of nervous system}}
{{Congenital malformations and deformations of musculoskeletal system}}
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