Approach

A multidisciplinary approach to medical and surgical care, as well as coordination of services, is most beneficial. Comprehensive obstetric care is required during the prenatal period. Involvement of and close follow-up by pediatric, neurosurgical, urologic, orthopedic, physical medicine, and rehabilitation specialists is essential in infancy.

Prenatal

Most fetuses affected by spina bifida can be carried to term. However, prenatal care is best provided by an obstetric group that can offer serial fetal ultrasonography to monitor hydrocephalus.

Options regarding termination of the pregnancy, fetal surgery, and term delivery should be discussed between the parents/caregivers and the obstetrician.[60][67]

Fetal surgery

The option for fetal surgery should be discussed.[60][67][103] Most centers perform the surgery between the 23rd and 25th week of pregnancy because of a lower risk of membrane separation and prematurity. Surgery should be performed by an experienced maternal-fetal surgical team only after careful consideration.[86][103][104]

In 2011, the Management of Myelomeningocele Study (MOMS), a randomized prospective efficacy and safety trial of prenatal repair versus postnatal repair of myelomeningocele, documented lower rates of shunt placement (40% vs. 82%) and hindbrain herniation (64% vs. 96%) at 12 months, and better ambulation at 30 months, among infants who had undergone prenatal closures.[86] However, 13% of babies who underwent prenatal surgery were born prior to 30 weeks' gestation. One third of the women had evidence of uterine thinning or an area of dehiscence at delivery. There were no maternal deaths. The perinatal death rate was similar (2%) for both surgery groups.

Since this landmark study, research has centered on refinement of surgical technique and protocols to reduce complications. There has been a significant reduction in prematurity and maternal morbidity in recent years.[105] Prenatal fetoscopic surgery is now offered at many centers and has shown similar postnatal outcomes at 12 months of age compared with open fetal surgery repair. Prenatal fetoscopic surgery allows for vaginal delivery and eliminates the risk of uterine scar dehiscence, thereby protecting subsequent pregnancies from unnecessary maternal and fetal risks.[106]

Long-term benefits of prenatal surgery continue to demonstrate less need for shunting and fewer Chiari-related concerns.[107]

Orthopedic follow-up of toddlers enrolled in the MOMS trial documented similar rates of scoliosis, kyphosis, hip abnormality, clubfoot, and tibial torsion between patients treated with prenatal or postnatal repair. However, the rate of leg length discrepancy and number of patients requiring casting or bracing was significantly lower in patients treated with prenatal repair.[108]

In a follow-up study of school-aged children in the MOMS trial, 24% in the prenatal surgery group versus 4% in the postnatal surgery group were reported to be voiding volitionally. Augmentation cystoplasty, vesicostomy, and urethral dilation did not differ between the two groups.[109]

Ten-year follow-up examining overall adaptive behavior between the prenatal versus postnatal repair groups in the original MOMS trial documented no differences in cognitive functioning.[110]

Cesarean delivery

The option for cesarean delivery should be reviewed. Although commonly performed, families should be made aware that there have been no definitive studies to show that this improves outcome for a baby with severe fetal malformations.[60][111] However, if prenatal myelomeningocele surgical repair has been carried out, prelabor cesarean delivery, at or before 37 weeks, is recommended because of the risk of rupture of the hysterotomy scar during labor.[67] Clinicians should consider use of latex-free gloves, because people with neural tube defects are at risk of developing severe allergy to latex.[60]

Discuss diagnosis and prognosis with parents/caregivers

Studies have shown that obstetricians may give incomplete or inaccurate information regarding diagnosis and prognosis.[112] Therefore, consultation with a genetic counselor, the medical director of the regional spina bifida center (or a specialist pediatrician in spina bifida), and a pediatric neurosurgeon is also recommended prior to delivery in order to discuss the diagnosis, prognosis, and care plan at time of delivery.[113]

  • The genetic counselor discusses availability of amniocentesis and risk of trisomy 13, trisomy 18, and other rare genetic disorders such as 22q deletion syndrome.

  • The medical director of the spina bifida center (or a specialist pediatrician in spina bifida) provides the parents with a realistic understanding of the array of services and supports available to the family when the baby is born. In addition, the medical director can give an overview of initial treatment in the neonatal intensive care unit.

  • The neurosurgeon discusses the cele repair and the management approach for hydrocephalus.

Neonate or infant

Neurosurgical management

  • Neurosurgical repair of the defect is considered the mainstay of treatment for open spina bifida. Closed spina bifida does not usually warrant any immediate surgery. Neonates born at outlying hospitals should be transferred for neurosurgical care shortly after birth, with saline gauze wrapped over the cele (refers to either meningocele or myelomeningocele) and intravenous antibiotic coverage initiated, similar to neonatal meningitis, in order to prevent infection. The cele closure is typically performed within 1-3 days of delivery.[86]

  • Neonates born with ventriculomegaly are monitored closely for signs of hydrocephalus such as rapid head growth, bulging fontanelle, sunsetting of eyes, poor feeding, vomiting, stridor, irritability or lethargy, apnea, and leakage of cerebrospinal fluid at the cele repair site. Placing a shunt at the same time as the cele repair increases the risk of shunt infection. Many neurosurgeons avoid concurrent procedures when a ventriculoperitoneal shunt is inserted due to the risks of infection.[114]

  • Serial head ultrasound studies are useful for monitoring cortical mantle thickness. If the hydrocephalus is stable and the infant is asymptomatic, it is safe to monitor with serial head ultrasound studies for up to 5 months. Hydrocephalus is unlikely to progress after 9 months of age. In the past, most infants born with myelomeningoceles (80% to 90%) ultimately had shunt placement. In recent years, neurosurgeons have been more cautious about committing patients to a lifetime of shunt dependence. Shunt placement rates are now as low as 60% in some centers.

  • Endoscopic third ventriculostomy (ETV) and choroid plexus coagulation (CPC) is an alternative to shunting that was refined and studied as a surgical technique in landmark studies conducted in East African children with limited access to follow-up care.[115][116] Studies published by the Hydrocephalus Research Network have shown 70% to 75% success rates for this procedure.[117]

  • Complication rates for ETV are in the order of 5% to 6% in the short term, and long-term complications may be less.[118] While there are fewer acute complications with shunt surgery, the incidence of shunt revision and shunt infection are 43% and 8%, respectively, within 2 years after shunt placement.[119] ETV/CPC is not considered a less favorable treatment than shunt placement; it is a standard of care option in this patient population with a different risk/benefit profile and different advantages and disadvantages compared with shunts.[120]

  • If raised intracranial pressure is ruled out, or treated, but symptoms persist, Chiari decompression surgery is usually performed. Infants with brainstem symptoms present at birth are more likely to have brainstem malformation rather than compression. Magnetic resonance imaging (MRI) can be performed to determine whether there is compression of the hindbrain at the craniocervical junction; this can help make the decision about Chiari II decompression surgery.

  • Tracheostomy and gastrostomy tube placement is often needed for these infants due to severe oromotor dysfunction and airway compromise.

Bladder management

  • The initial investigation of a newborn with spina bifida requires a prompt urologic evaluation consisting of voiding history, physical exam, urine culture, serum BUN/creatinine, and renal ultrasound.[121]

  • A renal ultrasound should be obtained 48 hours after birth. If hydronephrosis is present, prophylactic antibiotics should be instituted and voiding cystourethrography arranged.

  • In the first 2 months of life, bacteriuria, even if asymptomatic, should be treated. This is because urinary tract infection can be difficult to diagnose in neonates, it can rapidly progress to sepsis, and there is a greater risk of renal cortical scarring in the neonatal period compared with older age groups.

  • Clean intermittent catheterization is often initiated before back closure and continued into the postoperative period to ensure maintenance of a low-pressure reservoir. The frequency of catheterizations is then adjusted on the basis of the voiding pattern and the residual urine.

  • A urodynamic assessment is performed after back closure. It is an important screening tool to identify children with risk factors for future upper tract deterioration. The presence of disorders of sex development, elevated storage pressures (i.e., >40 cm of water), and detrusor overactivity needs to be treated aggressively to prevent renal functional loss. Findings on urodynamic studies associated with a high-risk bladder (i.e., leak-point pressure >40 cm of water, the presence of detrusor sphincter dyssynergia, and small bladder capacity due to detrusor hyperreflexia) are very strong indications to start and/or continue intermittent catheterization.

  • For those infants with detrusor sphincter dyssynergia on urodynamic study, oxybutynin may be started for its anticholinergic effect in order to relax the bladder wall, reduce pressure, and protect the upper urinary tract.[121][122] There is controversy about the neurocognitive impact of oxybutynin on the developing brain. Cystoscopic administration of botulinum toxin (usually onabotulinumtoxinA) represents an alternative method of treatment to surgery for children with neurogenic bladder and is considered an alternative to oral anticholinergic therapy for older children and adults. Mirabegron, a selective beta-3 adrenergic receptor agonist, is a treatment for bladder spasticity that may have fewer adverse effects. Clean intermittent catheterization and pharmacologic management of bladder spasticity in patients with detrusor sphincter dyssynergia has dramatically reduced the need for augmentation cystoplasty later in life.[123] A vesicostomy may be considered if the bladder is deemed high risk and the patient cannot adhere to intermittent catheterization.[124][125]

  • Videourodynamics is often incorporated into the initial urodynamic study to provide the same information as voiding cystourethrogram.

  • Ongoing urologic surveillance is critical for developing urinary continence strategies, preventing upper tract deterioration, and screening for secondary tethered cord.

Orthopedic management

  • Clubfoot is a common deformity with lumbar or higher-level lesions due to imbalance of muscles around the foot and ankle. Treatments include stretching, casting, surgery, or a combination of these until the foot and ankle can be brought to a weight-bearing position.[126] The goal is to have a braceable foot that can weight-bear in an ankle-foot orthosis (AFO) or shoe. AFOs may be fitted to help maintain position of the foot during growth once clubfoot deformity has been corrected.

  • Treatment of vertical talus can include physical therapy to maintain range of motion (ROM) or surgery, depending on the severity of the deformity and functional implications for the child. Serial casting and soft-tissue surgeries are preferred over bony procedures. The goal of treatment is a supple, plantigrade foot. AFOs are usually prescribed when the infant begins to weight-bear.

  • Treatment for subluxed or dislocated hips depends on the child's sensory and functional level. Treatment may involve stretching to maintain ROM. Abduction splints (e.g., Pavlik harness) and surgery are usually reserved for low sacral lesion ambulatory patients or if the conditions interfere with sitting, ROM, diapering, or perineal care.[127][128] Children that have sensation at the level of the hip may benefit from surgical intervention to prevent painful arthritis in the future.

  • Hip and knee flexion contractures are usually treated with physical therapy, involving passive ROM exercises. Surgery is rarely indicated in the newborn period or infancy. In later years, an anterior release is considered for hip flexion contracture >30° and a posterior release is considered for knee flexion contracture >20°.

Supportive care

  • The cele repair site should be protected from fecal soiling with a mud flap barrier dressing until fully healed. In addition, gauze may be placed between the gluteal folds to help protect the repair site from contact with stool.

  • Constant oozing of stool (due to neurogenic bowel) can cause contact diaper dermatitis. This is best managed with barrier cream that contains zinc oxide and by leaving the diaper area open to air whenever possible. Parents should be cautioned not to rub the skin, but rather to pat dry the area after cleansing. Parents should also be advised to avoid carrying their baby in a sling for prolonged periods as this can result in friction injury in the diaper area.

  • Treatment for neurogenic bowel aims to establish predictable bowel movements and social continence. Interventions may include dietary modifications, use of laxatives, irrigation, or enemas.[129]

  • Families should be counseled about preventive child health care, including developmental surveillance, immunization, vision, and hearing.[77]

Child or adolescent

Neurocognition and education

  • As children with spina bifida enter school, it is important for parents, educators, and children themselves to understand neurocognitive strengths and weaknesses. In a population‐based study of children with spina bifida and hydrocephalus, about 30% had average Intelligence Quotient (IQ) (>85), 40% had subaverage IQ (70-84), and 30% had intellectual disabilities (IQ <70).[130] Individuals with higher lesion levels have more severe neuroanatomic brain malformations and higher rates of intellectual disability.[131]

  • Although the neuropsychological profile can vary, the neurocognitive pattern commonly seen in children with spina bifida and hydrocephalus (with or without shunting) involves strengths in learning skills and performing tasks that rely on associative, rule-based processing (e.g., math fact retrieval, word reading), and weaknesses in learning and performance involve the construction or integration of information (e.g., math problem solving, reading comprehension).[132]

  • Many children with spina bifida meet criteria for attention deficit hyperactivity disorder (ADHD).[133] The attention profile of children with spina bifida is characterized by under-arousal and excessive persistence in controlling attentional focus. These difficulties in alerting and orienting to external stimuli are related to disruptions in midbrain and posterior cortex, rather than the frontal lobes. Stimulants are therefore often ineffective.[134][135]

  • All school-aged children with spina bifida with hydrocephalus (with or without shunting) and associated brain malformation should have a formal psychoeducational assessment at time of school entry.[136] It is important to orient educators to the learning disability associated with spina bifida, and to advocate for individualized academic support and services. Education fact sheets are available from the Spina Bifida Association. Spina Bifida Association: educational issues among children with spina bifida Opens in new window

  • Psychoeducational assessments at school can track global intellectual and academic progression, but are not designed to monitor executive functioning, coordinated upper limb, and memory domains, nor adaptive skill acquisition. Because subtle decline in neurocognition can be a presentation of shunt malfunction, it is important for clinicians to monitor academic progress and psychoeducational reports. Children with spina bifida benefit from a full neuropsychological assessment, when available.[136]

  • Healthcare providers for school-aged children should also routinely evaluate the child's participation in self-management tasks (e.g., intermittent catheterization) and household chores and offer appropriate parental counseling, nurse education, and regimen adjustment to promote independence. Compared with their typically developing peers, individuals with spina bifida may have a 2- to 5-year delay in developing autonomy skills.[137]

  • Repetition and practice with a "coaching" approach is key. Occupational therapists can evaluate independence and assist with skill development.[138][139][140][141]

Social skills

  • Social skills in children are also important building blocks for independence. Many children with spina bifida need assistance building adaptive social behaviors in peer interactions, such as reading social cues and responding appropriately.[142] Educational programs in the home, school, and broader community that offer opportunities to practice new behaviors are critical.

Physical activity

Puberty

  • The prevalence of central precocious puberty in girls with spina bifida is as high as 50% while estimates in boys range from 10% to 30%.[143][144] While the exact causative mechanism for precocious puberty is not known, studies have demonstrated an association with hydrocephalus, which may alter hypothalamic-pituitary-gonadal axis function.[145] Early recognition and timely referral for further evaluation by a pediatric endocrinologist is recommended.[146]

  • As teenagers enter puberty and eventually become sexually active, it is important to provide developmentally appropriate general as well as spina bifida-specific information on sexuality and reproductive health. This includes information on folic acid for prevention, latex-free barrier protection, lubricant use to prevent friction injury, and reminders to include skin checks in the perineal area. Both men and women should be advised to catheterize and/or flush their bladders before and after sexual activity to avoid incontinence and urinary tract infection.[147][148]

  • Women with spina bifida have normal fertility but require high-risk obstetric care prior to and during their pregnancies. Most men with spina bifida have altered fertility.[149][150]

Bowel and bladder monitoring

  • Children are taught to intermittently self-catheterize. Adolescents should be monitored for independence with bowel and bladder management and educated to perform skin checks on a daily basis. Spina Bifida Association: Did you look? Skin integrity bundle Opens in new window

  • Incontinence should be evaluated annually for both frequency and quantity (volume) of leakage events and for impact on quality of life. The goals for continence should be discussed regularly with the urologic care team.[121]

Orthopedic monitoring

  • Children and adolescents should be monitored at least annually for orthopedic complications that can occur during the adolescent growth spurt. Radiographs are obtained in the sitting position for those who can sit but not stand and in the standing position for those who can stand. It is recommended that the orthopedist communicate with neurosurgery if there are any concerning neurologic findings or deformities such as new onset of cavus feet or rapidly progressive scoliosis that might be indicative of tethered spinal cord.

  • Growing rod surgery is a procedure that can correct spinal curves in children with spina bifida who are still growing. The surgery involves inserting rods into the spine to allow for continued growth while managing the curve. Growing rod surgery with sacral-pelvic fixation is effective in correcting deformity and achieving growth. Curves in the 25° to 50° range can be managed with bracing. Change in gait pattern as teenagers attain adult stature may necessitate use of forearm crutches and bracing across the knee for patients with coronal plane valgus stress. Derotational osteotomy surgery may be needed when tibial and femoral deformities preclude orthotic management. Hip and knee flexion contractures may also require surgical intervention. Fusion surgery for foot deformities should be avoided.[92]

Neurosurgical monitoring

  • Neurosurgical surveillance during the teen years is important. Tethered cord syndrome occurs when skeletal growth puts traction on the spinal cord, as denoted by back pain with activity, decline in lower extremity strength/sensation, progressive scoliosis, and change in bladder and bowel function. Dermal or epidermal spinal inclusion cysts can also cause these symptoms. MRI spine imaging is warranted when there are symptoms. Hydrocephalus treatment failure (shunt failure, ETV failure) can present with subtle decline in neurocognition and sleep disordered breathing. Polysomnogram, neuroimaging, neuropsychological evaluation, and dilated eye exam may help establish the diagnosis. Acute onset of headaches, swelling along shunt tract, ophthalmoplegia, nausea, and any symptoms related to the Chiari II malformation such as occipital notch or neck pain, numbness or weakness in hands, and dysphagia warrant urgent evaluation and surgical intervention.[93][107][151]

Transition to adult care

  • In addition to providing surveillance for the medical and surgical complications that can occur in adolescence, providers should also assist patients and families with navigating the transition to adult health care. Transition preparation should begin between the ages of 12 and 14 years and involves supporting the adolescent in the gradual, developmentally appropriate assumption of increased independence and responsibility for self-care and condition management through coaching in home, school, and healthcare settings.[152]

  • Transition hand-off from pediatric to adult care providers typically occurs between the ages of 18 and 21 years. This involves the transfer of care plans and responsibilities from pediatric to adult providers as the individual establishes care in the adult setting.

  • Transition completion refers to the establishment of the individual in the adult healthcare setting, with adult care providers, and with needed community support to optimize their adult life.[153][154] Got Transition Opens in new window

Adult

Adults with spina bifida should continue regular monitoring by a neurosurgeon who is familiar with spina bifida care. There are a limited number of consensus and expert opinion articles on the medical care for adults with spina bifida.[77][155][156][157][158][159]

Hydrocephalus

  • Standard protocols for the management of adult-onset hydrocephalus may miss subtle signs of shunt malfunction in a patient with spina bifida, such as dysphagia, hoarseness, stridor, occipital headaches, arching of the neck, and snoring. Hydrocephalus that is present in adults with spina bifida is a very different condition from the type of hydrocephalus that begins in adulthood as a result of hemorrhage, infection, or tumor.[160]

Reproductive health

  • Sexuality and reproductive health care of adults with spina bifida requires specific treatment considerations.

  • Loss of efferent fibers in adult males leads to impotence as well as to retrograde ejaculation, both of which decrease fertility. Sildenafil has been shown to help erectile dysfunction in men with spina bifida.[161] Spina Bifida Association: men's health Opens in new window

  • Decreased perineal sensation diminishes orgasmic sex in both males and females, and both are at increased risk for skin ulceration of the genitalia.

  • In addition, fecal and urinary incontinence have been shown to affect self-esteem and social and sexual function.[162]

  • Latex condoms should be avoided due to the high prevalence of latex allergies in this population.[163]

  • Because of the increased risk of having an offspring with spina bifida, all women of reproductive age who have spina bifida should receive folic acid supplementation at the higher dose of 4 mg/day for 1 month before and during the first trimester of their pregnancy.[52][67] Women with spina bifida who become pregnant generally have a positive outcome with relatively low complication rates.[164] Spina Bifida Association: health care for women Opens in new window

Lymphedema

  • A relatively common finding among adults with spina bifida is lymphedema of the lower extremities. In one study, adults with spina bifida had almost a 100-fold increased risk of lymphedema compared with the general population. Lymphedema was more common in those with higher-level (thoracic) impairment and those who were obese.

  • Cellulitis and decubitus ulcers are more common in those with lymphedema.[165]

Osteoporosis

  • Osteoporosis is more common in adults with spina bifida than in other adults. In a Swedish study, 33% of subjects had osteoporosis in at least one of the measured sites.[166]

  • Despite high rates of osteoporosis among adults, spontaneous fractures are actually less common in adulthood than during the adolescent years.[167]

  • Medical factors such as urinary diversion, renal insufficiency, and use of anticonvulsants increase the risk for osteoporosis.

  • The optimal strategies for treatment and prevention in this population have not been established.

Hypertension

  • One study documented hypertension or prehypertension in more than half of young adults with spina bifida at a regional spina bifida center. Early screening and intervention for elevated blood pressure in individuals with spina bifida should be considered.[168]

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