Download Spina Bifida Complications in Adulthood

Spina Bifida: Where we have
been and where we are now
Sandra L. Whisler, MD, MS
Visiting Professor of Pediatrics
Special Care Clinic
Children’s Hospital Colorado
Denver, Colorado
Pre-Test
• 1. What is the most common type of Spina
Bifida?
• 2. List 2 common causes of death is Spina
Bifida patients.
• 3. List 2 things that can increase the incidence
of Spina Bifida.
• 4. List 3 co-morbidities that may be associated
with Myelomeningocele (MMC)
OBJECTIVES
1. Understand what Spina Bifida is
2. Understand the history of Spina
Bifida treatment
3. Understand the comorbidities
associated with spina bifida
Spina Bifida Definition:
• Neural tube defects which are congenital
anomalies of neurodevelopment with a
spectrum of clinical manifestations. (8)
• They include the cranium and/or spine.
History
•
Before 1940s: Most babies with spina bifida died
of meningitis before the introduction of antibiotics
in the 1940s. (1)
•
Late 1950s: Shunts were developed and
revolutionized the treatment of Spina Bifida by
treating hydrocephalus which had been a major
cause of morbidity and mortality. (2)
•
Before 1960: the survival rate for spina bifida was
only 10-20% and repairs were postponed until 2
years of age based on the belief that only the
strongest would survive. (3)
History Continued
• 1960s: Urinary diversion techniques were
developed which helped preserve urinary
continence and allow patients to gain social
continence (4)
• Mid-1960s: The US and United Kingdom
adopted the practice of operating on babies
with Spina Bifida within 12-24 hours after birth
who did not have other defects incompatible
with life. (5)
History Continued
1970s:
•
Shunting was effective, but these shunts needed
frequent revisions and the long term effects of
impaired renal function lead to renal failure. Renal
failure became the leading cause of death for
individuals with Spina bifida in the 1970s. (1)
•
More orthopedic surgeries were needed to facilitate
walking, long hospitalizations occurred. These
resulted in psychological and educational problems.
(6)
•
A trans-Atlantic debate over whether to treat or not
treat spina bifida erupted in the 1970s. This debate
helped shape the emerging discipline of bioethics.
(7)
History Continued
• 1984: Most children with Spina bifida were
found to achieve independent mobility and
social continence (utilizing intermittent
catheterization) and most cases of
intellectual disability could be prevented by
early and aggressive treatment. (6)
General Information
• Occurs: <1-7/1000 live births (8)
• Myelomeningocele (MMC) is the most common
form of spina bifida. (9)
• Rates of spina bifida has decreased since the
Federal Drug Administration mandated folate
supplements to enriched grain products in 1998.
(10)
General Information Continued
• Neural tube defects (NTDs) are the 2nd most
common congenital anomaly
• Girls are more commonly affected than boys
• Certain populations with increased risk
–
–
–
–
–
–
English/Irish
China
India
Pakistan
Egypt
Latino populations in the US
Neural Tube defects are commonly
diagnosed prenatally
• Quad screen at 15-20 weeks: MS-AFP
elevated
• Level II Ultrasound can detect back lesions as
well as brain abnormalities
• Amniocentesis – AF-AFP, ACHE are both
elevated
Etiology
• MULTIFACTORIAL INHERITANCE
– AGE: increases with maternal age
– SOCIOECONOMIC: increases with lower income
– NUTRITION : folate/homocysteine metabolism,
glucose and zinc
– HYPERTHERMIA : hot tubs and saunas (temps >102, 2x
risk)
– MEDICATION: Valproate, Tegretol, alcohol, agent
orange
– GENETICS: multiple genes are now being studied. Also
evidence that the neural tube closes at multiple closure
sites (i.e. probably 5 zippers rather than just 2), which
are each regulated by different genes and affected by
different teratogens
Risk Factors
• Folic acid deficiency-has been clearly
associated with open spinal dysraphism. (8)
• Maternal insulin-dependent diabetesassociated with caudal regression or sacral
agenesis. (11)
• Maternal exposure to certain medicationsvalproate, carbamazepine. (12, 13)
Recurrence Risks
• 2-3% in future pregnancies
• 1-2% for sibs of parents and sibs of patient
• Can reduce risks by 50-75% by use of Folate
prophylaxis 4 mg/day taken for minimum of
3 months prior to conception and first month
of pregnancy
Types and Definitions
• Syringomyelia: Fluid outside of the central spinal canal.
(8)
• Hydromyelia: Fluid within the central spinal canal. May
be asymptomatic. (14)
• Spina bifida occulta: Failure of fusion of the vertebral
bodies dorsal to the spinal cord. Overlying skin is intact
but have minor overlying abnormalities such as nevi,
dimple, dermal sinus, hemangiomas, tuft of hair, or an
underlying lipoma. (15)
• Spina bifida aperta: meninges and/or spinal cord
herniate through a defect in skin. (8)
Types and Definitions
•
Meningocele: only the meninges have herniated through a cleft in
the spinal column . (8)
•
Myelomeningocele (MMC): meninges and spinal cord both herniate
through defect in skin. (8)
-Almost all patients have a Chiari II malformation and
most have hydrocephalus
-80% are in the lumbar and sacral regions
-97% with bowel and bladder involvement
•
Tethered cord Syndrome (TCS): caused by attachment of the filum
terminale to inelastic structures caudally resulting in stretchinduced dysfunction of the caudal spinal cord and conus. (8)
•
Sacral agenesis or caudal regression syndrome: spectrum of defects
including incomplete development of the sacrum and sometimes of
the lumbar vertebrae. It may be associated with spinal dysraphism
and is usually associated with a tethered cord. (16)
Types and Definitions Continued
• Spinal lipomas and teratomas: often contain
multiple types of tissues and may impinge on spinal
cord later in life and cause progressive neurologic
dysfunction. (17)
• Terminal Diplomyelia: duplication or splitting of the
terminal spinal cord and patients may be
asymptomatic. (8)
-May see marked asymmetry of involvement of the lower
extremities
• Spinal dysraphism: failure of fusion of the vertebral
bodies. (8)
Types and Definitions Continued
Types of Spinal Dysraphism (8):
•
Occult spinal dysraphism: usually abnormalities
occur in the overlying skin such as such as nevi,
dimple, dermal sinus, hemangiomas, tuft of hair, or
an underlying lipoma.
•
Open spinal dysraphism: spina bifida aperta-cleft in
the spinal column with herniation of the meninges
(meningocele) or meninges and spinal cord
(myelomeningocele) through the defect.
•
Closed Spinal Dysraphism: spina bifida occultaunexposed neural tissue
Myelomeningocele (9)
• Myelomeningocele (MMC) is the most common form of spina
bifida.
• MMC can be diagnosed in the first trimester
• Prenatal MMC repair reduces the need for shunting.
• With prenatal repairs, improved motor outcomes are seen at
30 months as compared with repair after birth.
• In utero repairs have been associated with maternal and fetal
risks including preterm delivery, fetal death, and uterine
dehiscence.
• Improvement in mental development was also noted.
MMC General Information (18)
•
Most newborns have evidence of neurological
impairment at birth suggesting that neurological
injury occurs during gestation or at delivery.
•
Evidence that the neurological deficits associated with
MMC are not just caused by incomplete neurulation
but by prolonged exposure of the vulnerable neural
elements to the intrauterine environment.
•
MMC is the first non-lethal anomaly considered for
fetal surgical intervention.
•
Surgical intervention before 26 weeks of gestation
may preserve motor function, reverse hindbrain
herniation, and reduce the need for
ventriculoperitoneal shunting.
MMC Comorbidities (8)
Life-long disabilities including:
1. Paraplegia
2. Hydrocephalus
3. Chiari II malformation
4. Bladder and bowel dysfunction
5. Skeletal deformities
6. Neurocognitive impairments.
MMC Comorbidities
Orthopedic abnormalities:
1. Caused by unbalanced action of muscles
around joints, paralysis, and decreased
sensation in the lower extremities. (8)
2. May be chronic or slowly progressive, and
others arise acutely from progressive
neurologic dysfunction such as shunt
malfunction or tethered cord. (19)
Sexuality
• Most female fertile: pregnancy
complicated by prolapse of uterus
and perineum
• Fertility in males: 15-20% (varies
with level, recurrent UTIs,
epididymitis, prostatitis)
ADULTHOOD
• Most complete high school
• 50% go onto further education
• 30 - 60% live independently
• 25-50% are employed
• Many go on to have families but they have a 5% risk
of having children with NTD
TREATMENT (20)
• Treatment is multidisciplinary with
needed expertise in pediatric
neurosurgery, urology, orthopedics, and
rehabilitation medicine.
• Access to physical therapists,
occupational therapists, social workers,
nutritionists, and psychologists is also
helpful.
Neurological Management
• Newborn
1. Closure of defect
2. Shunt placement for hydrocephalus
3. Relieve brain stem compression
• Ongoing Problems
1. Shunt malfunctions
2. Symptomatic tethered cord
Orthopedic/Rehabilitation
Management
• Function depends on level
• Problems
-Flexion contractures
-Club feet
-Dislocated hips
-Scoliosis
• Management
-PT:
Prevention/correction/improvement of function
-Surgery:
Tendon releases/casting/bracing
Tendon transfer/bone fusion/spine fusion
Urologic Management
• Newborn
-Study bladder function and upper tracts
-Ensure complete bladder emptying
-Treat reflux/hydronephrosis
-Prevent/treat symptomatic UTIs
• Ongoing:
-Prevent renal compromise
-Maintain urinary continence: Crede/timed
voidings, CIC with or without medications,
surgery to expand bladder capacity and/or
prevent urethral leakage
-Prevent/treat symptomatic UTIs
Bowel Management
• Bowel continence is a life long problem
• Management strategies include:
-Diet
-Medications/suppositories
-Manual evacuation: digital and enemas
-Surgical
Cognitive Difficulties in Spina Bifida
• Large heterogeneous group: Most with
intelligence in normal range but almost all
have significant learning disabilities.
• Higher lesions, CNS infections: correlated
with lower IQ
• Verbal abilities are superficially better than
visual-spatial or quantitative abilities
Cognitive Difficulties in Spina Bifida
• Impairment in mental
flexibility, efficiency of
processing,
conceptualization and
problem solving
• Inability to generalize or
apply past experiences
• Poor executive skills,
attention deficits, and
memory issues
Other Problems
•
•
•
•
•
•
•
•
•
•
Latex allergy
Fine motor dysfunction
Seizures
Hearing loss
Pulmonary compromise
Intestinal obstruction
Rectal prolapse
Impotence
Pathologic fractures
Chronic cellulitis/thrombophlebitis
Prognosis
•
Often physical and neurologic function deteriorate over
time and become severe in adulthood. (20)
•
Bowman et, al studied outcomes for spina bifida in
patients 20-25 years of age and found that there was a
24% overall mortality which continued to increase as the
patients aged. (22)
•
86% had undergone CSF diversion and 95% of these had at
least 1 shunt revision. (22)
•
Associated anomalies may include club feet, flexion
contractures at the hips, knees, and ankles, kyphosis, DDH,
and/or structural anomalies of the airway, heart, GI tract,
ribs, and kidneys. (20)
Prognosis Continued
•
85% attended or had graduated from high school or college.
(22)
• Many patients will have neurogenic bladders and may develop
progressive deterioration of the upper urinary tract and chronic
renal disease. (20)
• Most patients will need lifelong treatment with CIC, medications,
and/or surgery to be continent and preserve urological function.
(20)
• In almost all patients with MMC, innervation to the bowel and
anus is affected which leads to dysmotility, poor sphincter
control, and fecal incontinence. (20)
Prognosis Continued (20)
Progressive disability can be caused by :
1. Shunt malfunction
2. Progression of Chiari II symptoms related to
compression to the cervical canal, hydromyelia,
tethered cord
3. Orthopedic issues
4. Urologic issues.
Mortality (21)
Mortality is especially high inpatients with
lesions above the T11 region.
Most Common Causes of Death:
•
•
•
•
Epilepsy
Pulmonary embolus
Acute hydrocephalus
Acute renal sepsis
References
1.
Pruitt LJ, Living with Spina Bifida: A Historical Perspective, Pediatrics 130(2): 181-183, 2012
2.
Macnab GH . The development of the knowledge and treatment of hydrocephalus. Dev Med
Child Neurol. 1966;8(suppl 11):1–9
3.
Lorber J. Results of treatment of myelomeningocele. An analysis of 524 unselected cases, with
special reference to possible selection for treatment. Dev Med Child Neurol. 1971;13(3):279–303
4.
Kirkland I. Urinary tract problems in spina bifida. Dev Med Child Neurol. 1962;4:314–319
5.
Sharrard WJW, Zachary RB, Lorber J. Survival and paralysis in open myelomeningocele with
special reference to the time of repair of the spinal lesion. Dev Med Child Neurol. 1967;9(suppl
13):35–50.
6.
Johnson PR. Selective nontreatment and spina bifida: a case study in ethical theory and
application. Bioethics Q. 1981;3(2):91–111
7.
McCormick RA. To save or let die. The dilemma of modern medicine. JAMA. 1974;229(2):172–176
8.
Khoury, C. Pathogenesis and types of occult spinal dysraphism.
www.uptodate.com.libproxy.unm.edu/contents/pathogenesis-and-types-of -occult -spinaldysraphism 8/22/12, pp1-26
9.
Adcock, NS, Thom, EA, Spong, CY, et al., A Randomized Trial of Prenatal versus Postnatal Repair of
Myelomeningocoele, N Engl J Med 364: 993-1004, 2011
References
10. Boulet SL, Yang Q, Mai C, et al. Trends in the post fortification prevalence of spina bifida and
anencephaly in the United States. Birth Defects Res A Clin Mol Teratol 2008;82:527-53
11. Wender-Ozegowska E, Wróblewska K, Zawiejska A, Pietryga M, Szczapa J, Biczysko R, Threshold
values of maternal blood glucose in early diabetic pregnancy--prediction of fetal
malformations. Acta Obstet Gynecol Scand. 2005;84(1):17.
12. Ceylan S, Duru S, Ceylan S, Valproic acid sodium-induced spina bifida occulta in the rat,
Neurosurg Rev. 2001;24(1):31
13. Rosa FW, Spina bifida in infants of women treated with carbamazepine during pregnancy.
N Engl J Med. 1991;324(10):674
14. Jinkins JR, Sener RN, Idiopathic localized hydromyelia: dilatation of the central canal of the
spinal cord of probable congenital origin, J Comput Assist Tomogr. 1999;23(3):351
15. Guggisberg D, Hadj-Rabia S, Viney C, Bodemer C, Brunelle F, Zerah M, Pierre-Kahn A, de Prost
Y, Hamel-Teillac D, Skin markers of occult spinal dysraphism in children: a review of 54 cases.
Arch Dermatol. 2004;140(9):1109.
References
16.
Estin D, Cohen AR, Caudal agenesis and associated caudal spinal cord malformations, Neurosurg Clin N
Am. 1995;6(2):377
17.
Pierre-Kahn A, Zerah M, Renier D, Cinalli G, Sainte-Rose C, Lellouch-Tubiana A, Brunelle F, Le Merrer
M, Giudicelli Y, Pichon J, Kleinknecht B, Nataf F. Congenital lumbosacral lipomas, Childs Nerv Syst.
1997;13(6):298.
18.
Danzier E, Johnson MP, Adzick NS, Fetal Surgery for myelomeningocoele: progress and perspectives,
Dev Med Child Neurol 54(1): 8-14, 2012
19.
Swaroop V and Dias L. Orthopedic issues in myelomeningocoele (spina bifida)
www/uptodate.com.libproxy.unm.edu/contents/orthopedic-issues-myelomeningocele 8/22/12
(Updated 2/11/10)
20.
McLone DG and Bowman RM Overview of the management of myelomeningocoele (spina bifida)
www/uptodate.com.libproxy.unm.edu/contents/overview-of-the-management-ofmyelomeningocoele-(spina bifida) 8/22/12 pp. 1-10.
21.
Mouetzinos MD and Stoffel JT, Management Goals for the Spina Bifida Neurogenic Bladder: A review
from infancy to adulthood, Urologic Clinics of North America Vol 37(4) 2010 9copyright 2010 W.B.
Saunders Company)
References
22. Bowman RM, McLone DG, Grant JA, Tomita T, Ito JA, Spina bifida outcome: a 25-year prospective,
Pediatr Neurosurg. 2001;34(3):114
Post-Test
• 1. What is the most common type of Spina Bifida?
(Myelomingocele)
•
2. List 2 common causes of death in Spina Bifida patients.
(Acute renal sepsis, epilepsy, pulmonary embolism,
acute hydrocephalus)
• 3. List 2 things that can increase the incidence of Spina Bifida.
(Folate deficiency, certain drugs used for seizures: valproate,
carbamazepine)
•
4. List 3 co-morbidities that may be associated with MMC.
(Paraplegia, bladder dysfunction, neurocognitive deficits)