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Spina Bifida

Description

Other Names

neural tube defect, myelomeningocele, myelodysplasia

ICD-9

741, Spina bifida

See NTD ICD9(PDF Document 71 KB) for a complete list of codes associated with spina bifida. Also see ICD-10 Spina Bifida Codes for ICD10 codes.

Description

Spina bifida refers to a group of conditions in which there has been improper development of the spine during embryonic development, at about the end of the first month of gestation. The term neural tube defect is also used somewhat interchangeably with the term spina bifida. The entire human nervous system develops from a plate of specialized cells that form along the back of the embryo. The edges of this elongated plate curl toward each other, joining in as many as four places to form a tube and then proceeding caudally (tailward), where the end of the spinal cord will form, and cephalad (toward the head), where further specialization will lead to brain development. Spina bifida results from problems during this amazingly complex process and genetic and environmental factors are involved. [Kaufman: 2004] [Finnell: 2003] Defects can be classified as open (spina bifida, encephalocele) or closed (spina bifida occulta, diastematomyelia). Types of NTD include:
  • Myelomeningocele: The most common symptomatic form of NTD and the most severe. The spinal cord and the meninges protrude through the posterior openings in the vertebrae. See the Myelomeningocele Illustration (MedlinePlus).
  • Meningocele: The meninges protrude through the posterior openings in the vertebrae, but the spinal cord is not involved.
  • Encephalocele: The meninges or brain tissue protrude through the skull.
  • Anencephaly: The cephalic end of the neural tube fails to close, resulting in the absence of a major portion of the brain, skull, and scalp. Anencephaly is not compatible with life; infants born with anencephaly, on average, live only a few hours.
  • Spina bifida occulta: There is an opening or defect in one or more vertebrae with no pathology in the spinal cord. This is generally asymptomatic.
  • Closed neural tube defects: This comprises a diverse group of defects where the spinal cord is malformed, but the vertebral column is intact. These include lumbosacral lipomas and diastematomyelia. These defects may have clinical presentations ranging from mild to very severe. Infants with these defects may be asymptomatic at birth and then develop symptoms over time. Midline sacral skin tags, hairy patches, hemangiomata and other cutaneous markers may signal the presence of a closed neural tube defect and should be looked for in all newborns. [Brand: 2007]
Common Associated Clinical Problems
  • Abnormal spinal cord development results in some degree of paralysis, or muscle weakness, and sensory loss below the level of the defect. The neurologic lesions are complicated and unique for each child. The paralysis is most likely to be a flaccid paralysis, although tethered cord and other accompanying defects may lead to lower extremity spasticity. Mobility is usually affected.
  • Hydrocephalus and abnormal brain development - Most children with myelomeningocele also have hydrocephalus (70-90%) and may need a shunt or other procedure to relieve the fluid pressure in the brain. Children with myelomeningocele may also have abnormal brain development (Chiari II, thinning of the corpus callosum, with decreased neuron content in the posterior region of the brain, heterotopic grey matter, other).
  • Bowel and bladder dysfunction are almost universal, even in low sacral lesions, and greatly affect morbidity, mortality, and quality of life.
  • Neurogenic bladder - Because the bladders of children with myelomeningocele are paralyzed (neurogenic), reflux of urine up the ureters and into the kidneys (vesico-ureteral reflux) can occur. This can lead to kidney failure, particularly in the setting of frequent urinary tract infections.
  • Lack of skin sensation, including feelings of pain, pressure, friction, heat, and cold that may contribute to skin problems.
  • Constipation and other gastrointestinal problems
  • Latex allergy
  • Skin breakdown
  • Orthopedic problems
  • Learning and mood problems

While 90% of neural tube defects occur without a personal or family history of NTDs, the CDC has identified some risk factors:
  • a previous NTD-affected pregnancy
  • maternal folic acid deficiency (see Folic acid supplementation in NTD)
  • maternal insulin-dependent diabetes
  • use of certain anti-seizure/mood stabilizing medications (valproic acid and carbamazepine) during pregnancy
  • medically diagnosed obesity in the mother
  • exposure to high temperature in early pregnancy (prolonged fever or hot tub use)
  • maternal race/ethnicity (more common among white women than black and more common in Hispanic women than non- Hispanic women)
  • lower maternal socio-economic status
For educational materials for families including diagrams of children with myelomeningocele, see Spina bifida (Let's Talk About.... PCMC)(PDF Document) and Spina bifida en espanol (Let's Talk About.... PCMC)(PDF Document).

Prevalence

Neural tube defects occur in 1 per 1,365 births in Utah, with myelomeningocele comprising 96% compared to only approximately 4% for meningocele. The incidence is higher in females than in males for unknown reasons. [Juriloff: 2012] The incidence is higher for families that already have one child with NTD (5%), two children with NTD (10%), or one parent with NTD (10%). Spina bifida occulta is very common in the general population, with some estimates as high as 40%, although most people with this form are unaware of it.

Genetics

Families who have a child with a NTD should be referred for genetic counseling if they are considering having another child. [Deak: 2008] Environmental influences, especially maternal folic acid ingestion and valproic acid exposure are also important. [Yerby: 2008]

Prognosis

In the U.S., infants with myelomeningocele typically undergo fetal surgery or surgery to close the lesion soon after birth. After post-natal repair, more than 75% of children born with myelomeningocele survive to early adulthood, although late complications are common. [Bowman: 2001] [Wong: 2001] The survival rate of children born with spina bifida at one year of age continues to rise, but is higher in whites than in Hispanics or blacks. [Shin: 2012] Greater morbidity and mortality are associated with higher lesions, including the presence and difficulty of managing hydrocephalus and the presence of vesico-ureteral reflux and/or frequent urinary tract infections. [Wong: 2001] An alternative to shunting, third ventriculostomy with choroid plexus cauterization, holds promise for improved outcomes. [Warf: 2008]

Roles Of The Medical Home

Since neural tube defects (NTD) are often identified prenatally, the pediatrician may be involved in assisting the parents prior to the child's birth. After birth, routine health maintenance, preventive services (including all recommended immunizations), developmental and other screening, and guidance are at least as important for children with an NTD as for other children. Additional "chronic condition management visits" help ensure that time for routine care is not taken up by monitoring for, and responding to, problems related to spina bifida.

Practice Guidelines

There are no practice guidelines for the diagnosis/treatment of children with spina bifida. A practice guideline for folic acid supplementation to prevent spina bifida is:

Cheschier N.
ACOG practice bulletin. Neural tube defects. Number 44, July 2003. (Replaces committee opinion number 252, March 2001).
Int J Gynaecol Obstet. 2003;83(1):123-33. PubMed abstract

Helpful Articles

PubMed search for review articles on Neural Tube Defects in children for the last 3 years.

Frey L, Hauser WA.
Epidemiology of neural tube defects.
Epilepsia. 2003;44 Suppl 3:4-13. PubMed abstract

Rossi A, Biancheri R, Cama A, Piatelli G, Ravegnani M, Tortori-Donati P.
Imaging in spine and spinal cord malformations.
Eur J Radiol. 2004;50(2):177-200. PubMed abstract

Clinical Assessment

Overview

The initial diagnosis of open neural tube defects (NTD) is most commonly made during routine prenatal ultrasound exams, which allows for deliberate preparation by and for the family and health care providers. At this point, some families will choose to either terminate the pregnancy, be evaluated for prenatal surgery - although this is not an option for all families, or go on to have surgery postnatally. A randomized control trial, the MOMs Trial, showed that prenatal surgery led to a decreased need for shunting, improved motor and mental development scores at 30 months postgestational age, improved ambulation scores, and decreased hindbrain herniation; however, it was associated with significant risks for both the mom and the baby, including preterm labor and uterine dehiscence at delivery. [Adzick: 2011]

Although this section will focus on the initial evaluation and management of children with an open NTD, infants born after fetal surgery will still need to be followed for many of the same problems such as lower urinary tract dysfunction, which does not improve with fetal surgery, [Lee: 2012] hydrocephalus, and other issues.

Infants with open myelomeningocele commonly undergo surgery soon after birth to repair the defect and the accompanying hydrocephalus, if present. During their initial (birth) hospitalization, a protocol including echocardiogram, head CT, and renal ultrasound, and initiation of a latex-free environment is followed.

If hydrocephalus is present, there are now two alternatives for surgery, the standard ventriculo-peritoneal (VP) shunt, and endoscopic third ventriculostomy with choroid plexus catheterization (ETV-CPP). [Sufianov: 2010]

Screening

For The Condition

Neural tube defects (NTDs) are often identified prenatally by ultrasound or following screening tests (triple or quadruple screen, α-fetoprotein or AFP), so the pediatrician may be involved in assisting the parents prior to the child's birth. [Bradley: 2005] Note that the sensitivity of the entire NTD screening process is estimated to be 86% for anencephaly and 78% for open spina bifida, while the specificity is 99.99%. If the screen is abnormal, a specialized ultrasound examination will usually be done to look for NTD (other conditions may also cause elevated AFP). Diagnostic testing is also usually performed during any pregnancy at high risk for NTD, including moms with a previous history of a NTD. [Jallo: 2005] See triple, quad, and penta prenatal screening description. Women who have had a previous child with a NTD should see a genetic counselor for discussion of diagnostic testing.

Diagnostic Criteria

Diagnosis is by anatomical characterization of the neural tube defect either by fetal ultrasound or postnatal imaging.

Comorbid Conditions

As most infants with myelomeningocele have surgery to close the spinal cord defect, most morbidity and mortality comes from co-morbid conditions, including hydrocephalus, problems with urination and defecation, orthopedic problems, and problems with development and learning.

Pearls & Alerts

Third ventriculostomy and choroid plexus cauterization

A new technique for control of hydrocephalus for infants/children with hydrocephalus after fetal or postnatal surgery, third ventriculostomy and concomitant choroid plexus cauterization may improve hydrocephalus outcomes compared to shunt surgeries while avoiding the risks of prenatal surgery. This technique may be particularly helpful in developing countries. [Sufianov: 2010]

History & Examination

Family History

Family history of neural tube defects

Pregnancy Or Perinatal History

Knowing the timing of diagnosis and the counseling received to date will help you understand how well the family is prepared.

Current & Past Medical History

With the first visit to the Medical Home after myelomeningocele repair or after birth following fetal surgery, review the child's problem list and their medical history. For children just released from the hospital after initial management, a myelomeningocele protocol would have been followed that includes screening of likely affected organ systems (for an example, see pre-op myelomeningocele protocol (PCMC)(Word Document 200 KB) and Postop Care of the Child with Myelomeningocele(PDF Document 16 KB). Key information for the Medical Home to gather for optimum understanding of the newborn's condition on discharge includes:
  • level of the spinal lesion; surgical repair and results; movement and sensation below lesion
  • bladder and bowel function
  • urinary tract screening (usually ultrasound and voiding cystourethrogram) results
  • brain involvement – Chiari II malformation, hydrocephalus, shunted, third ventriculostomy?
  • presence or absence of seizures
  • family adjustments and acceptance
For subsequent visits, gather an interim history with particular attention to complications of spina bifida. Include functional abilities, nutrition and weight, urinary and bowel problems, presence of shunt and/or seizures, and educational progress.

Developmental & Educational Progress

Following developmental progress and taking advantage of early intervention and subsequent therapies are crucial. Any regression in motor abilities may signal a complication such as a tethered cord, hydrocephalus, or shunt malfunction.

Maturational Progress

Inquire about signs of puberty as precocious puberty is more common in children with a neural tube defect.

Social & Family Functioning

Knowledge of others in the extended family with spina bifida, or related problems, may alert you to sources of support or anxiety. Ask how the child with spina bifida and the family are coping emotionally, financially, and in the community. Consider screening adolescents for mood disorders.

Physical Exam

General

Level of alertness, interaction. In infants, monitor crying, sucking, and general vigor.

Vital Signs

Vital signs should include blood pressure at all visits, and at least twice a year, because of the risk of renal involvement from neurogenic bladder and reflux. For normative values at different ages, please see Vital signs at different ages (Emedicine).

Growth Parameters

Length/height | weight | BMI | OFC: Follow weight and length for adequate growth; follow OFC for increasing percentiles that may signal hydrocephalus. Head circumference should be followed until there is no further growth, particularly in children with a history of hydrocephalus and shunting. For a child who is unable to stand, you may need to follow length (as opposed to height), understanding that translation to a height growth chart may be initially misleading. For many reasons, obesity is common in children with spina bifida and should be managed early.

Skin

Evaluate surgical repair wound; some infants will need evaluation and care by plastic surgery. In older children who are not ambulatory, evaluate skin integrity, looking particularly for pressure sores.

Chest

Air movement may be restricted by spinal deformity or weakness.

Abdomen

Feel for kidneys (hydronephrosis), and for masses that suggest constipation. Check anal sphincter tone initially and as clinically indicated afterwards. In male infants, observe urinary stream if possible.

Extremities/Musculoskeletal

Look for spinal deformity such as kyphosis, scoliosis, etc. Check hips for clicks and dislocation. Club feet may be present.

Neurologic Exam

In infants, check for gag and suck reflexes. Perform a baseline exam to determine reflexes and confirm level of lesion. A baseline is important if there is a question of deterioration (e.g. due to tethered cord, increased intracranial pressure). In subsequent visits, perform a motor exam, including observation of muscle bulk and tone and the presence of spontaneous and responsive movement Perform sensory exam of the extremities and trunk - usually the level of sensory dysfunction is slighter higher than the dysfunction detected on motor exam.

Testing

Sensory Testing

Check results of newborn hearing screening. Routine screening for hearing and vision may be adequate. However, if cognitive skills are impaired, screening may not be as effective as needed.

Laboratory Testing

Routine testing is not indicated, but consider urinalysis and culture with any concern of infection.

Imaging

At birth, ultrasound or CT scans may be used to visualize bony defects and surrounding anatomy, as well as presence or absence of hydrocephalus and/or other cranial anomalies; MRI is the best study to identify contents of the lesion. Shunt series, head CT, MRI may be indicated for concerns regarding hydrocephalus and/or shunt malfunction; generally done in collaboration with neurosurgical colleagues.

Other Testing

Urinary tract/kidney evaluation:
  • The evaluation starts in the newborn period with a renal ultrasound to look for anatomical abnormalities, such as absent kidney or horseshoe kidney, the frequencies of which are greater in children with myelomeningocele. [Liptak: 2003]
  • Cystometrograms are then performed as needed to evaluate the function of the bladder sphincter and the bladder detrusor muscle; if bladder pressure is high and/or reflux present, clean intermittent catherization should be started.
Psychological/neuropsychological testing is very important to determine IQ and achievement level for help with educational programming.

Subspecialist Collaborations & Other Resources

In many locations, specialized clinics are available to provide multi-disciplinary evaluation and care for children with spina bifida. If this is not available, the Medical Home should collaborate with subspecialists and make appropriate referrals based on the child's needs. These might include neurosurgery, neurology, physiatry, orthopedics, nutrition, developmental pediatrics, neuropsychology or psychology, ophthalmology, urology, and gastoenterology. Baseline evaluations with recommendations for follow-up care should be recommended by the Medical Home. Most or all of the subspecialists listed below are likely available in a multidisciplinary Spina Bifida Clinic but, if not, they should be consulted initially and participate in ongoing evaluation and management.

Spina Bifida Clinics (see Services below for relevant providers)

When available, specialty care at a Spina Bifida Clinic is preferred.

Pediatric Urology (see Services below for relevant providers)

Evaluates and manages neurogenic bladder and consequent problems. Because difficulties with voiding occur in infancy and may lead to kidney damage, urological assessment begins in the newborn period.

Pediatric Neurosurgery (see Services below for relevant providers)

Neurosurgical care is needed on an ongoing basis to evaluate and manage hydrocephalus and to screen and treat spinal cord re-tethering.

Pediatric Orthopedics (see Services below for relevant providers)

Evaluates for and treats orthopedic complications, including scoliosis, kyphosis, hip dislocation, etc. Pediatric orthopedics should be involved at an early stage and assessments scheduled regularly.

Pediatric Physical Medicine & Rehab (see Services below for relevant providers)

PMR Team - assessment and treatment of the child with disabilities should begin soon after birth with PT, OT, and speech therapy added when appropriate. This team will also order and manage positioning and mobility needs, such as feeding chairs and wheelchairs, and can help in the management of issues like constipation.

Developmental Pediatrics (see Services below for relevant providers)

May be helpful with development, behavior, nutrition, constipation, and school issues.

Pediatric Neurology (see Services below for relevant providers)

Pediatric neurology should be involved early to monitor development and the neurological exam, as well as to diagnose and treat of seizures if they occur.

Neuropsychology (see Services below for relevant providers)

To evaluate achievement and IQ to guide development of educational programs based on the child's strengths and weaknesses.

Educational Advocacy (see Services below for relevant providers)

Educational and vocational specialists can help guide academic and vocational plans, particularly for those patients with learning disabilities.

Treatment & Management

Overview

Several decades ago, children with spina bifida often didn't live to adulthood. [Pruitt: 2012] Now, individuals with spina bifida have near-typical life expectancies, but will live with chronic health care needs. Some of these needs are acute and obvious, such as expanding head size and hydrocephalus. Other needs, including urinary tract health, continence, and avoidance of constipation, can be misinterpreted as less urgent, even though they affect quality of life, health, and life expectancy. Acute urinary tract infections may be life-threatening; even children who have not suffered acute infections have ended up in renal failure, requiring a transplant after years of sub-optimal care. Best care practices for the urinary tract and the gastro-intestinal system require consistency and surveillance on a day-to-day basis, a difficult thing for many families with multiple demands on time and resources. Children who have received prenatal and postnatal surgery will need multi-disciplinary care in a Spina Bifida Multi-Disciplinary Clinic when available.

It is important to think about life transitions for a child with spina bifida, from hospital to home, to preschool, elementary school, high school, and independent living as an adult. An important part of the transition to independent living is bladder and bowel continence, which makes jobs, marriage, sex, and every day interactions easier for individuals with spina bifida.

Pearls & Alerts

Mobility in children with myelomeningocele

Although individual myelomeningocele lesions are unique and often complicated, some generalizations on future mobility can be made based on the level of the lesion. Children with sacral lesions will often be able to walk, with or without braces, though usually later than typical children. Children with lower to mid-lumbar lesions will require more support to walk, including crutches, walkers, and/or bracing. These children will often become wheelchair-dependent as they move into adolescence. Children with high lumbar or thoracic lesions will usually be wheelchair dependent. Children with higher lesions that involve the upper extremities may need motorized wheelchairs for mobility. Note that power chairs can be used at developmental levels as young as two to three years.

Fractures due to osteoporosis

Fractures due to osteoporosis are common in nonambulatory children, especially if additional risk factors are present (e.g. the child is taking valproic acid or a proton pump inhibitor). Children with myelomeningocele should be maintained on a diet with adequate calcium and vitamin D and weight-bearing with braces or a standing apparatus should be encouraged. Bisphosphonates should be considered if fractures occur in the setting of low bone density. Referral should be made to pediatric endocrinology if this is being considered. See Services, below.

Systems

Other

Prenatal diagnosis and care
If families have decided to continue pregnancy after an in utero diagnosis of spina bifida, they are given information about fetal surgery and postnatal myelomeningocele surgery. If prenatal surgery is chosen, and mother and fetus are appropriate candidates, the family will be referred to centers in the US that perform fetal myelomeningocele surgery (e.g. University of California San Francisco, Children's Hospital of Pennsylvania, Vanderbilt University, and others.) Proximity, family input, and insurance requirements usually dictate choice of program. As there are still a limited number of centers performing this surgery, moms will sometimes need to travel to, and stay near, a center away from their home. When prenatal surgery is performed, the uterus is opened, the myelomeningocele is repaired, and then the uterus is closed between 19 - 25.9 weeks of the pregnancy. Delivery is planned for 37 weeks estimated gestational age.

If the mother and/or the fetus are not candidates for prenatal surgery, or the family has decided on post-natal surgery, babies with a NTD are generally followed by both a high risk pregnancy program and their local obstetrician with delivery planned at a tertiary care center. A person with expertise in neonatal care, such as a neonatologist will generally provide parent education regarding expectations at and immediately following birth. A person from the Spina Bifida Clinic usually provides counseling about problems that may arise during pregnancy and throughout life. The type of delivery is decided by the obstetrician, but large head circumference, breech presentation, and any fetal distress are indications for C-section. A person with expertise in neonatal care, such as a neonatologist, will generally provide parent education regarding expectations at and immediately following birth.

Postnatal and ongoing care
Following birth, a protocol for newborns with spina bifida is activated. Pediatric neurosurgeons will repair the lesion usually within the first 24-72 hours and multiple evaluations are obtained to assess future management needs. Although there may be minor differences among programs, the protocol is fairly generic. Upon discharge, referrals to early intervention, a Spina Bifida Clinic, and other appropriate specialists should be in place, along with a first visit to the Medical Home. Infants who have fetal surgery are also evaluated according to protocol and will return to their home with records from the institution where they received care. Children with both pre- and post-natal surgeries will benefit from care in a Spina Bifida Clinic.

Evaluation and Treatment/Management

Basic considerations/evaluations after birth include:
  • neurosurgical - present/extent of hydrocephalus and need for treatment
  • ensure healing of surgical repair wound
  • urinary - evaluation for anatomy and function
  • universal latex precautions
  • begin urinary and bowel care

Neurology

HYDROCEPHALUS

Description
In hydrocephalus excess cerebrospinal fluid (CSF) accumulates in and around the brain and spinal cord causing potentially harmful pressure on those tissues. Many children with spina bifida will require treatment and ongoing management of hydrocephalus including children who have had fetal or post-natal surgery. Pediatric neurosurgeons are critical to the spina bifida team.

Signs and Symptoms
Initial signs of hydrocephalus in infants, which may be subtle, include sleepiness, irritability, vomiting, sunsetting eyes, a bulging or full fontanelle, splayed sutures, and seizures, as well as a large and/or rapidly increasing head circumference. In children whose skull bones have already fused, nausea, headache, sunsetting eyes, balance problems, irritability, seizures, and visual disturbances, such as diplopia and blurred vision, may develop. Hydrocephalus that is slowly developing may cause more subtle changes, and may be more difficult to recognize as changes occur slowly, such as a plateau or regression in developmental milestones, new learning problems, such as memory loss and difficulty concentrating, and personality changes.

Treatment
If hydrocephalus is present, the child will require either a shunt placed by a neurosurgeon or in some cases, a third ventriculostomy with choroid plexus cauterization (ETV+CPC). The decision on timing of the first shunt placement or ETV+CPC must balance the risks of surgery and related complications with potential brain damage from hydrocephalus. Nobody knows if a child with small ventricles and a shunt will do better than a child with stable, large ventricles. Although a pre-surgery MRI is helpful, the decision on which operation to do will ultimately be made during surgery.
Shunts:
The most typical arrangement for a shunt is a ventriculo-peritoneal shunt. If a VP shunt is inserted, risks of the shunt include:
  • shunt malfunction, which may result from obstruction by biologic debris or mechanical failure
  • obstruction or under drainage, which includes continued increased intracranial pressure with symptoms of hydrocephalus
  • overdrainage, which may lead to subdural hematomas or slit ventricle syndrome and cause intermittent symptoms
  • abdominal complications
  • infections, which are more common in the first few months after shunt placement and are most often due to Staphylococcus species.

Families and providers for children with shunts should be alert to the primary signs of shunt obstruction and infection, including headaches, vomiting, and drowsiness. Slowly progressing shunt malfunctions may present with progressively worsening headaches, loss of developmental milestones, falling asleep in school, personality changes, and new learning problems. These signs should prompt evaluation by the neurosurgeon or local emergency room. X-rays of the shunt (commonly called a "shunt series") and a CT scan or fast MRI of the head may be indicated, along with, if infection is a concern, a shunt tap to examine the cerebro-spinal fluid (CSF).

ETV+CPC:
A third ventriculostomy is an alternative procedure to a shunt in which a small hole is made in the floor of the third ventricle to allow the CSF to escape the ventricular system to the space surrounding the brain, thus bypassing the obstruction. The choroid plexus is the structure within the ventricles which make 80% of the CSF. Coagulation of the choroid plexus is done through a single burrhole in the skull from which the neurosurgeon can coagulate the choroid plexus on both sides of the brain. If an ETV+CPC is successful, the problems of shunts such as obstruction and failure are eliminated. Risks of an ETV+CPC include:
  • procedure abandonment due to hemorrhage or dangerous anatomy
  • meningitis
  • seizures
  • CSF leak
  • major arterial injury (rare)
Signs and symptoms of ETV+CPC failure are identical to those of shunt failure described above. In one series, the success rate for ETV+CPC was 75%. [Vogel: 2013] Although a shunt series is not necessary, repeat CT or MRI of the brain is required to assess for failure and whether a repeat ETV or a shunt is required.

Prognosis
Hydrocephalus is extremely common in children born with myelomeningocele; approximately 60-80% will end up needing either a shunt or an ETV+CPC, which are performed anywhere from 5 days to 6 months after myelomeningocele closure. Although early shunting in the first few weeks of life may improve neurodevelopmental outcome [Sgouros: 2006], many other factors, including the degree of brain malformation, affect ultimate intellectual and functional outcomes. It is possible that ETV-CPC instead of shunting will improve outcomes; data is not yet available comparing these two treatments although appears that children with ETV-CPC will need fewer additional procedures compared to those with a VP shunt.
Children with myelomeningocele without shunts are followed closely with clinical exam, including neurodevelopmental assessment and imaging, usually with a pediatric neurosurgeon involved in care.

CHIARI II MALFORMATION:
  • Refers to displacement of cerebellar tonsils and inferior vermis, and possibly the fourth ventricle, choroid plexus, and medulla, into the spinal canal.
  • Chiari II malformation is present in virtually all patients with myelomeningocele but requires treatment in only a small minority.
  • Infants may present with difficulty breathing, increased high crying, apneic episodes, aspiration, and arching (the latter is similar to that seen in infants with reflux), or if syringomyelia is present, individuals may present with spasticity and/or progressive weakness.
  • Older children present less dramatically, but may have headache, swallowing difficulties, and passing out episodes.
  • Symptoms of Chiari II malformation may be difficult to separate from the symptoms of shunt malfunction and/or increasing hydrocephalus in unshunted individuals.

TETHERED CORD
  • The spinal cord in most children is able to move with the child, but with a tethered cord, the spinal cord is stretched, eventually leading to damage to nerves that control the bowel, bladder and legs.
  • The cord is also sometimes tethered in children with spina bifida occulta, and in children with other closed neural tube defects such as diastematomyelia. Certain skin findings over the lower part of the back, including fat deposition, a hairy or discolored patch of skin, skin tags and dimples may signal the presence of a tethered cord.
  • Symptoms may include back and associated leg pain, worsening ambulation and/or stamina, bowel or bladder problems and/or orthopedic problems including back pain, scoliosis, or new, changing joint contractures, and weakness and loss of sensation in the legs. Increased tightness or spasticity in the legs leading to decreased range of motion may also be noted.
  • Symptoms of tethered cord might be subtle, especially in a child who is in a wheelchair where gait problems will not be noted; back and leg pain may be the presenting symptoms; in younger children these might manifest as a decrease in activity, failure of toilet training, or wet diapers between catheterizations in children with neurogenic bladder.
  • Tethered spinal cord syndrome is principally diagnosed clinically along with an MRI of the spine looking for a worsening tethered appearance or a synrinx. In some cases, if tethered cord is confirmed, surgery is needed to release the spinal cord so that it can move freely within the spinal canal.
  • Controversy exists regarding the threshold of signs and symptoms at which treatment of tethered cord in children with myelomeningocele is necessary.
  • Surgery may be helpful in preventing further deterioration and in preventing irreversible damage; however, only about half of the patients return to their pre-tethering baseline state with surgery.
  • Tethered cord can recur in about 1/4 of children who have had release surgery; routine follow-up visits with neurosurgery are important.

Syringomyelia
  • Syringomyelia involves fluid or a cyst within the spinal cord. Many children with myelomeningocele have syringomyelia, yet it causes symptoms in only a small percentage (2-5% [Liptak: 2003]). It can be difficult to distinguish symptoms of myelomeningocele, tethered cord, Chiari II malformation.


Epilepsy
:
  • Seizures and epilepsy in children with myelomeningocele are common, occurring in 10-25% of affected children. [Talwar: 1995] [Noetzel: 1991] [Bartoshesky: 1985] [Yoshida: 2006]
  • Most studies have found epilepsy to be more prevalent in myelomeningocele patients with hydrocephalus than in those without. ([Noetzel: 1991])
  • The presence of shunts and shunt revisions is not correlated with epilepsy. [Klepper: 1998]
  • Children with myelomeningocele and epilepsy tend to have other brain abnormalities, such as polymicrogyria or agenesis of the corpus callosum. [Talwar: 1995] [Yoshida: 2006]
  • Children with myelomeningocele and epilepsy may be more likely to have intellectual disability than those without epilepsy. [Noetzel: 1991]
  • If seizures occur in myelomeningocele patients, they are treated similarly to seizures in the general population (see Seizures/Epilepsy).
  • Unless the child has confounding factors of intellectual disability and/or hydrocephalus, the prognosis is generally good for seizure control. [Noetzel: 1991]

Subspecialist Collaborations & Other Resources

Pediatric Neurosurgery (see Services below for relevant providers)

Neurosurgery follow-up will be required in most children with myelomeningocele.

Pediatric Neurology (see Services below for relevant providers)

Referral to neurology for seizures may be helpful. Neurology will generally be part of a multidisciplinary spina bifida clinic.

Genito-Urinary

Urinary Continence – During the life of an individual with spina bifida, management of the urinary system requires careful attention to how much urine remains in the bladder, reflux of urine into the kidneys, and urinary tract infections. Children with myelomeningocele who are continent have greater self-esteem than children who are not continent and can fit in better with other children. Adults with spina bifida identify concerns regarding continence as one of their major worries regarding sexual intimacy. [Edwards: 2004]

Urinary management includes the use of diapers, typical toileting with or without medications, intermittent catheterization, and surgical diversion to help an individual with spina bifida achieve urinary continence. In addition to the achievement of continence, management aims to avoid infection and damage to the kidneys.

Many infants will leave the hospital after birth with a regimen of clean intermittent catheterization due to high bladder pressure or reflux of urine which can cause kidney damage. Anticholinergic medications (e.g. ditropan) are sometimes used to lower bladder pressure. Constipation contributes to urinary tract problems and should be managed carefully. Bladder and kidney function are then monitored over time and antibiotics prescribed (for infection or prophylaxis) as needed. If these more conservative measures fail, various surgeries are sometimes required.

Urinary Tract Infections – From birth, children with myelomeningocele should be monitored for urinary tract infections and treatment provided as needed. Frequent urinary tract infections in this population hasten kidney damage. Signs and symptoms of urinary tract infections include chills/fever, foul-smelling, cloudy, or dark urine, blood in urine, nausea/vomiting, pain in the lower back or abdomen, discomfort with catheterizations, general signs of illness. It is sometimes difficult to determine if an individual who performs clean intermittent catheterization has an infection or benign bacteruria. In a study performed in 2005, no consensus was found to exist among Spina Bifida Clinics in the United States regarding the management of bacteriuria.[Elliott: 2005]

Kidney Dysfunction – Neurogenic bladder and subsequent kidney dysfunction are major sources of morbidity and mortality in children with spina bifida. Although only about 10% will have kidney dysfunction at birth, about 50% will go on to have deterioration in kidney function, sometimes requiring dialysis or renal transplant. [Liptak: 2003]

Urologic tests that may be needed:
  • renal ultrasound to assess kidney size, anatomy
  • voiding cystourethrogram (VCUG) primarily to look for reflux of urine back into the kidneys and to determine if voiding leads to appropriate emptying of the bladder.
  • cystometrogram (CMG) to assess bladder pressure and capacity. This test looks for high pressure in the bladder that may cause reflux into the kidneys and leakage of urine at high pressures.
Medical procedures or surgeries that may be used in children with spina bifida include:
  • a vesicostomy where an opening is created between the bladder and the abdomen allowing leaking into a diaper to keep urine levels in the bladder low. This procedure is used when the bladder is not emptying sufficiently, leading to reflux of urine into the kidneys. Usually this opening is closed after infancy.
  • injections into the ureter to make the opening between ureter and bladder smaller, decreasing reflux of urine into the kidneys
  • a catheterizable urinary stoma (also called a mitrafanoff, a MIC, or continent vesicostomy) where an opening is created from the abdomen into the bladder. Immediately after surgery, a tube is left in the opening to allow the wound to heal, and then removed. The opening can then be catheterized using clean intermittent catheterization.
  • re-implantation of ureters where the position of the ureters is changed to lessen reflux. This is performed when clean intermittent catheterization and medications aren't successful. Often the child has been subject to frequent urinary tract infections.
  • bladder augmentation to increase the amount of urine the bladder can hold, decreasing reflux back into the kidneys. This procedure is often done with a mitrafanoff procedure.
  • bladder muscle augmentation to strengthen the sphincter that holds urine in the bladder until it is voluntarily released, allowing urination. In some children, the sphincter is not strong enough to prevent leaking in between urination.
An excellent handout for parents regarding urinary tract management can be found at Spina bifida and urologic management (Let's Talk About.... PCMC)(PDF Document) and en Espanol Spina bifida and urologic management en espanol (Let's Talk About.... PCMC)(PDF Document). Other patient education information in English and en Espanol can be found in Resources below including self-catheterization, clean intermittent catheterization, and types of urologic surgeries.

Subspecialist Collaborations & Other Resources

Pediatric Urology (see Services below for relevant providers)

Careful attention to the urinary tract issues, along with evaluations every few months in infants and less frequently as the child gets older have prevented morbidity and mortality in many children with myelomeningocele. Most children will require periodic visits with pediatric urology for kidney damage prevention, the achievement of continence, and urinary tract infection prevention.

Gastro-Intestinal & Bowel Function

Almost all individuals with spina bifida, even those who can walk, have trouble with bowel control. Bowel management at all ages helps to prevent accidents, allows regular formed bowel movements, and protects self-esteem and social functioning.

Voluntary control of both sphincters, the internal anal sphincter and external anal sphincter, are affected in individuals with spina bifida. Nerves that control these sphincters are the lowest on the spinal cord; therefore, an opening anywhere along the spinal cord can interrupt communication with the brain. Therefore individuals with spina bifida need a regular elimination program to prevent accidents.
Individuals with spina bifida are particularly prone to constipation. It occurs because the movement of stool through the colon has slowed. Slowing of movement occurs due to:
  • diet low in fiber
  • inactivity
  • inadequate fluid intake
  • irregular and incomplete emptying
  • anesthesia-surgery
  • pain medications
Parents should be taught about the importance of adequate fluids and fiber. Since no intervention works for every child, a trial and error approach to achieving continence and regularity is needed. Continence is achieved more often if training is started before age seven and if the child with myelomeningocele has bulbocavernosus and anocutaneous reflexes. [King: 1994]

When constipation is an ongoing problem, fecal impaction can occur. As more stool accumulates, the colon enlarges, muscle tone is lost, and the urge to empty decreases. Seepage of liquid around clumps of stool causes diarrhea-like bowel movements. Impaction requires a complete clean out of the colon with enemas before a regular emptying program can be started.

Prevention of constipation starts at the first visit and continues with every visit to the Spina Bifida Clinic and the Medical Home. Knowledge of the child's bowel habits should guide initial interventions. What time of day does the patient have a bowel movement? How long after eating? What is the consistency of the stool? Does the patient need an enema, a suppository, or just time on the toilet before stooling? Common considerations include:
  • Interventions, including dietary manipulations, should aim for 1-2 mushy, easy-to-pass stools per day.
  • Diets should be high in fiber.
  • PEG 3350 (Miralax or Glycolax) should be added to give bulk to stools if a high fiber diet isn't helping.
  • For softer stools, water and prune juice should be added. Stool softeners, such as docusate, can also be added when needed.
  • Greasy foods should be avoided.
  • Meals and predictable time periods after eating for sitting on the toilet should be scheduled to utilize the gastrocolic reflex.
  • If timing bowel movements after meals is not successful, suppositories should be added (glycerin or biscodyl) to initiate bowel movements. Stimulants such as senokot, or osmotic agents such as milk of magnesia, are also sometimes helpful.
  • Bowel "clean-outs" are sometimes necessary when constipation has been an issue for a long period. Bowel clean-outs are usually followed by PEG 3350 daily until the colon adjusts to normal bowel movements. For details, see Constipation Treatment (general).
  • The cone enema is very helpful for cleaning out stool in the colon. See Cone enema video (youtube) for a video about cone enemas.
  • Consider a referral to gastroenterology if interventions are not successful.
Although non-surgical options should be tried first, occasionally, an ACE procedure (antegrade continent enema) may be needed for severe problems with constipation. This operation constructs an opening between the skin of the abdomen to the proximal large intestine, creating an appendicostomy. This allows patients or their caregivers to administer fluid by inserting a catheter and administering fluids, flushing stool down the intestine. [Webb: 1998]

Subspecialist Collaborations & Other Resources

Pediatric Gastroenterology (see Services below for relevant providers)

If children are not responding to standard treatment and/or if an ACE procedure is being considered, a referral to gastroenterology may be helpful.

Nutrition/Growth/Bone

For mothers: Abundant scientific evidence has shown a link between maternal folic acid deficiency during early pregnancy and the development of neural tube defects in the fetus. The American Academy of Pediatrics has recommended "all women of childbearing age who are capable of becoming pregnant should consume 400 micrograms of folic acid daily." For women who have had a child with a neural tube defect and women who themselves have a neural tube defect, the American Academy of Pediatrics recommends "4000 micrograms of folic acid per day starting 1 month before the time they plan to become pregnant and throughout the first 3 months of pregnancy, unless contraindicated." Also see Neural Tube Defects - AAP Policy Statement on folic acid supplementation.

For children: Although nutrition is important for everyone, it is especially important for children with spina bifida. Poor eating habits and reduced activity compared to typical children may lead to obesity, constipation, pressure sores, osteoporosis, anemia, and other problems. By the age of six, at least 50% of children with myelomeningocele are overweight, making movement more difficult and leading to further weight gain and deconditioning. Obesity also increases the risk of decubitus ulcers, makes continence of bladder and bowel more difficult to manage, and may lower self-esteem. Weight management should start in the early years – prevention is easier than losing weight once obesity is present. See the NTD: SBA Fact Sheet on Obesity and Obesity Prevention (general). See the Let's Talk About Spina bifida and nutrition (Let's Talk About..... PCMC)(PDF Document) for suggestions for families regarding nutrition and activity.

Children who have decreased mobility and are on certain medications are more susceptible to fractures. Calcium and vitamin D intake should be monitored and supplemented as needed.. See Calcium and Vitamin D (general).

Subspecialist Collaborations & Other Resources

Nutrition/Dietary (see Services below for relevant providers)

Children should be monitored by a dietician for weight and height changes over time for different stages of life.

Learning/Education/Schools

Many parents and professionals have noted difficulties in learning and achieving independence that do not correlate with intelligence and social abilities. For instance, although most children with myelomeningocele have intelligence in the normal range, only 34% will go to college, compared to almost half of the typical population. [Liptak: 2003] Adults with myelomeningocele are less likely to be employed than those in the general population (one third vs. 70%) or even those with other physical disabilities. [Liptak: 2003] The reasons for decreased independence are many, complicated, and sometimes seemingly contradictory. Some aspects are discussed below.

Intelligence
Although the IQ of children with spina bifida averages less than the general population, lower scores are generally found in children with hydrocephalus and higher spinal cord lesions, as well as in those with a history of central nervous system infection. [Lollar: 1995] Children with myelomeningocele have difficulty with perceptual motor skills and this tends to bring the full scale IQ down, whereas verbal intelligence scores are closer to the normal range. Children with myelomeningocele will generally do better in reading and writing classes than in math.

Specific learning problems

Even with normal intelligence, children with myelomeningocele will often have difficulties with perceptual motor skills, organization, memory, sequencing and problem solving, as well as with attention problems. These issues need to be looked for and addressed in the classroom and in the individualized education program.

Self care and independence

Even with normal intelligence, children with myelomeningocele will score poorly on measures of self-care, such as the WeeFim (Functional Independence Measure for Children) and the PEDI (Pediatric Evaluation of Disability Inventory). The reasons for this are not well understood, but may reflect specific learning problems (such as organization, sequencing and attention deficits), as well as personal mental health and family functioning problems. One report of neuropsychological functioning in teens with myelomeningocele found deficits in fine motor coordination, information processing speed and a slower learning curve compared to the typical population. [West: 1995]

Neuropsychological Testing
Children with neural tube defects should be assessed with a full neuropsychological profile, examining intelligence, achievement, attention, etc. to best identify strengths and weaknesses and teaching methods aimed at maximizing the potential of the child. Funding for a full profile can be hard to obtain; school districts and/or the patient's insurance may be helpful but often require letters requesting the testing from the Medical Home.

Helping with school issues involves tracking progress, accommodations for learning problems, accessibility to all areas of the school, and a school health plan. An Individualized Education Plan (IEP) and a "504 Plan" should be developed and implemented for every child with spina bifida – details on these can be found in Education & Schools under For Physicians & Professionals.

Skin & Appearance

Skin breakdown: Individuals, especially adolescents and adults with myelomeningocele, often develop decubitus ulcers in major weight bearing areas, such as buttocks and feet. Reasons include:
  • These areas are insensitive to pain.
  • These areas are stationary in spina bifida children in wheelchairs, unless efforts are made to increase movement voluntarily (for example, with sitting push-ups).
  • The spinal defect involves autonomic nerves that control the vascular supply to these areas, thus increasing the chances of getting decubitus ulcers and delaying healing when sores develop.
  • Constipation and diarrhea - passing hard large stools can tear the skin around the anus and liquid stool causes rashes and breakdown of the skin around the opening to the rectum.
Decubitus ulcers may eventually require prolonged hospital stays and, if not properly cared for, may be life threatening. Early changes leading to decubiti may include blanching erythema (that does not resolve quickly after the pressure has been removed), warmth, and a feeling of hardness to the skin. As progression occurs, the erythema no longer blanches, or a white area is noted. The underlying bone, muscle, and/or joint capsule may be affected, and often the seriousness of the ulcer cannot be appreciated from observing the skin alone.


Treatment – The family should participate in ongoing education and prevention that includes pressure releases while in a wheelchair (10 second lifts every 15 minutes); frequent changes in positioning (for example, from a wheelchair to a mat every hour or two while at school); and, position changes every two hours while lying in bed. The first step in treating a pressure sore is to remove the pressure causing it. Consider new wheelchair cushions, a change in orthotics, or, if it is exacerbated by a contracture, antispasticity agents and a referral to surgery to release the contracture. If the decubitus is mild, thorough cleansing and possibly an occlusive dressing to keep the area moist may be sufficient. More advanced sores may require various other types of dressings (wet to dry dressings, Carrington gel), intravenous antibiotics, whirlpool treatments, and surgical debridement/skin grafting.

Latex Allergy – All children with spina bifida and their families should be taught to avoid latex in their environment. Newborns with myelomeningocele are usually put on latex precautions at birth. A large percentage of children with spina bifida have latex sensitivity and allergy, with symptoms ranging from itchy watery eyes to hives to fatal anaphylactic reactions. Although there are correlations between previous latex exposure history, number of previous surgeries, and the presence of other allergies, the intricacies of this allergy are not well understood. Because latex exposure to mucus membranes seems to correlate with increasing difficulty with latex allergy, sexually active adolescents and adults with spina bifida should use latex-free condoms. Specific recommendations for avoidance and lists of products that contain latex can be found at the Spina Bifida Association Website. See Latex Information (Spina Bifida Association).

Musculoskeletal

Orthopedic Problems
Common orthopedic problems associated with spina bifida include:
  • scoliosis
  • kyphosis
  • hip dislocations
  • foot and knee deformities
Scoliosis is the most common spine abnormality, occurring in approximately 50% of children with myelomeningocele. Development of scoliosis continues until about 15 years of age. Fewer than half of those with scoliosis will need spinal fusion/VEPTR (titanium rib scoliosis surgery) because curves under 20 degrees will frequently resolve spontaneously. [Bowman: 2001] [Trivedi: 2002]. More significant degrees of scoliosis can lead to respiratory compromise, balancing and positioning difficulties, and decubitus ulcers. Bracing is frequently used before surgery, depending on the type of curve (paralytic versus congenital) and the clinical situation. This may allow surgery to be postponed to provide more time for spine growth.

Kyphosis
, curvature of the spine in an anterior posterior plane, can cause progressive problems with seating, positioning, and pressure sores on the skin overlying the convex side. It can also lead to compression of abdominal contents and secondary interference with the function of the diaphragm and breathing. Kyphosis can be very difficult to manage, often requiring major spinal surgery to correct the deformity. Fortunately, kyphosis is less common than scoliosis in children with meningomyelocele, accounting for about 10 % of spine defects. It is more common when the myelomeningocele lesion is above T12. [Foster: 2007]

Hip dislocations
are common in children with myelomeningocele, increasing in incidence with higher lesions. Muscle release surgeries may decrease the forces dislocating the hips. Bone surgery can correct the deformities resulting from the muscle imbalance, improve the range of motion of the hips and knees and facilitate bracing and standing. The decision to surgically treat hip dislocation is often based on the child's potential to walk, which is correlated with a lower lesion level (L3 level) and whether it is unilateral or bilateral.

Foot deformities
are common in young children with myelomeningocele. They may require bracing if the deformity is flexible. If the deformity is rigid, corrective surgery can relax the foot so that bracing can be effective.

Maturation/Sexual/Reproductive

Sexuality and Reproductive Issues
When a family first hears they will have a child with spina bifida, they often have questions about fertility. Teens with myelomeningocele also have questions about sexuality and the usual sources of reliable information often do not address issues specific to those with physical or intellectual disabilities, leaving adolescents to feel that they are not given enough practical information. [Sawin: 2002] [Sawyer: 1999]

Although many adolescents with spina bifida are involved in intimate relationships, [Verhoef: 2005] poor body image and fear of bowel and bladder incontinence can cause some people to limit intimate connections. Adolescents with myelomeningocele should be taught that, like other adolescents, they may be fertile and are subject to sexually transmitted disease. Because of the risk of latex allergy, sexually active patients should be taught to use latex-free condoms. Because the effectiveness of latex-free condoms in preventing pregnancy and sexually transmitted diseases is still being studied, males with neural tube defects (NTDs) should use a latex-free condom inside a regular condom, and females with spina bifida should have their male partner use a latex-free condom over a regular condom. See Latex-free condoms (About.com) for more information. Both males and females with NTDs may have decreased sensation in their perineal and genital regions and must watch for skin breakdown that may occur with sexual activity. Many women with myelomeningocele are able to become pregnant, although fertility rates aren't known. A small percentage of women with small pelvises might have difficulty carrying a child to full term. See [Jackson: 2005] for a discussion of reproductive issues in women with spina bifida. There is little information available about the sexual response in women with myelomeningocele. Adolescent females with myelomeningocele should take folic acid because of the risk of spina bifida in their children, which is greater for mothers with spina bifida than it is in the general population. See Folic acid supplementation in NTD and [Toriello: 2005].

As many as 1 in 4 males with NTDs will have undescended testicles. [Meyer: 1984] Approximately 3/4 of males with myelomeningocele will be able to have erections, although most will experience them only from local physical stimulation rather than psychogenically. The ability to have and sustain an erection is related to the level of lesion; the lower the level, the more likely the male will be able to have an erection. Even with the ability to have an erection, many men with spina bifida will be unable to sustain it long enough for sexual intercourse. Erectile dysfunction drugs have been very helpful. If those medications fail, various surgical interventions are possible. It is unknown how many men with myelomeningocele are infertile, and whether they are infertile because they experience retrograde ejaculation or because of decreased sperm count or motility. Artificial insemination may be an option, using their own sperm. Fertility specialists should be consulted if these questions arise. [Sawin: 2002]

Precocious Puberty
For unknown reasons, children with spina bifida and hydrocephalus often exhibit precocious puberty. Although precocious puberty is more frequent in girls (possibly as high as 50%, [Proos: 1996]), it also occurs in boys. Precocious puberty causes a number of physical and emotional problems in children who may already feel socially isolated and different. These problems include:
  • an early pubertal growth spurt, followed by a change to adult bone structure and cessation of growth. Adults with spina bifida are shorter than the general population; this problem is more pronounced if they experienced precocious puberty, starting their growth spurt earlier and stopping growth earlier.
  • changes that sometimes occur with adolescence, such as moodiness, increased aggressiveness in boys, and sexual readiness are experienced earlier than in children without spina bifida and at a time when families, friends, and schools may not be anticipating them. [Liptak: 2003]

Signs of early changes include testicular enlargement and the development of pubic hair and acne in boys, and breast development in girls. If noted, the child should be seen by a pediatric endocrinologist to consider treatment. Testing may include bone age, ultrasound examination for uterine size, blood testing for elevated levels of sex hormones and pituitary hormones, and determination of the child's rate of growth.

Some patients, families, and their doctors choose medication, usually leuprolide (lupron), to slow the maturation process. In addition to preventing precocious puberty, treatment delays the puberty-related growth spurt, allowing the child greater adult height. Gonadotropin-releasing hormone analogs can also help attain greater adult heights in children with spina bifida and precocious puberty. If precocious puberty is already well underway, treatment may not be possible. [Trollmann: 1998]

Subspecialist Collaborations & Other Resources

Pediatric Endocrinology (see Services below for relevant providers)

Boys or girls with precocious puberty can be referred to pediatric endocrinology.

Transitions

There will be many transitions for an infant born with spina bifida. These include leaving the hospital for home care, starting early intervention, starting preschool, elementary school, and high school, and independent living whether that involves college or a job. Many transition materials have been developed to help the family and the Medical Home work with these transitions. See the Navigating Transitions with Your Child and School Transitions

Subspecialist Collaborations & Other Resources

Social Work (see Services below for relevant providers)

Social workers are able to help with transition planning in many ways from the fully practical to the emotional response of the individual and/or the family.

Frequently Asked Questions

See also What is Spina Bifida? (AAP) on the American Academy of Pediatrics' web site.

Why isn't my child doing better in school? He has spina bifida at a low level and I've been told his IQ is normal.

This is a complicated question. Children with spina bifida have been noted to perform less well in school and achieve less than other individuals of the same intelligence (as measured by IQ). There are many reasons to think that the brains of children with spina bifida, even those with low lesions, may also be affected by the same early developmental process that caused the spina bifida. Children with spina bifida, even those with few complicating problems, like hydrocephalus and seizures, are noted to have higher verbal IQs than performance IQs, giving them a different learning and achievement profile than individuals without spina bifida. Although not specifically proven for the population of children with spina bifida, we believe that early intervention and school intervention is helpful for children for special needs. Continue to be an advocate for your child at school to help him achieve the best possible outcome in his life. See Children's Education Services, (801-662-4914); See also Services below.

Issues Related to Spina Bifida

Gastro-Intestinal & Bowel Function

Constipation Treatment

Resources

Helpful Articles

PubMed search for review articles on Neural Tube Defects in children for the last 3 years.

Frey L, Hauser WA.
Epidemiology of neural tube defects.
Epilepsia. 2003;44 Suppl 3:4-13. PubMed abstract

Rossi A, Biancheri R, Cama A, Piatelli G, Ravegnani M, Tortori-Donati P.
Imaging in spine and spinal cord malformations.
Eur J Radiol. 2004;50(2):177-200. PubMed abstract

Clinical Tools

Information & Support for Families

Family Diagnosis Page

Information on the Web

March of Dimes spina bifida information
Information from the March of Dimes on neural tube defects

Seizures in children with spina bifida(PDF Document 101 KB)

Spina Bifida (KidsHealth)
Family-focused information about spina bifida, from the Nemours Foundation

Spina bifida (Let's Talk About.... PCMC)(PDF Document)

Spina Bifida (MedlinePlus)
from the National Library of Medicine; basic information and numerous links to other reliable sources

Spina Bifida Handout(PDF Document 961 KB)
This 24-page document explains spina bifida, medical terms, diagnosis, symptoms, managment, latex precautions, and more, from the Southwest Institute for Families and Children with Special Needs.

Support National & Local

Children and adults with spina bifida website
Excellent site including basic medical, surgical, and educational information with patient and family discussion lists

Hydrocephalus Association
Education, research, advocacy and support to eliminate the challenges of hydrocephalus

Studies/Registries

5085

Spina Bifida Clinical Trials

Services for Patients & Families

Developmental Pediatrics

See all Developmental Pediatrics services providers (5) in our database.

Educational Advocacy

Children's Education Services, more info...
100 N Mario Capecchi Drive
Salt Lake City, UT 84113
Phone: 801-662-4914
http://intermountainhealthcare.org/xp/public/documents/pcmc/school.pdf

See all Educational Advocacy services providers (39) in our database.

Neuropsychology

See all Neuropsychology services providers (10) in our database.

Nutrition/Dietary

See all Nutrition/Dietary services providers (56) in our database.

Pediatric Endocrinology

See all Pediatric Endocrinology services providers (5) in our database.

Pediatric Gastroenterology

See all Pediatric Gastroenterology services providers (2) in our database.

Pediatric Neurology

See all Pediatric Neurology services providers (4) in our database.

Pediatric Neurosurgery

See all Pediatric Neurosurgery services providers (1) in our database.

Pediatric Orthopedics

See all Pediatric Orthopedics services providers (3) in our database.

Pediatric Physical Medicine & Rehab

See all Pediatric Physical Medicine & Rehab services providers (6) in our database.

Pediatric Urology

See all Pediatric Urology services providers (2) in our database.

Social Work

See all Social Work services providers (21) in our database.

Spina Bifida Clinics

Utah Spina Bifida Clinic and Support Group, more info...
100 Mario Capecchi Drive, Ste. 4400
Salt Lake City, UT 84113
Phone: 801-214-8070
Fax: 801-662-4931
http://www.utahspinabifida.org

Vocational Education

See all Vocational Education services providers (172) in our database.

For other services related to this condition, browse our Services categories or search our database.

Authors

Content Last Updated: 10/2013

Bibliography

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Interesting article regarding the embryology of NTD. This article also points out that NTDs are not progressive and any deterioration should prompt evaluation and treatment.

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A description of some toileting interventions for individuals with spina bifida.

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