Providing a Primary Care Medical Home for Children and Youth with Spina Biﬁda

FROM THE AMERICAN ACADEMY OF PEDIATRICS

Guidance for the Clinician in Rendering Pediatric Care

CLINICAL REPORT Providing a Primary Care Medical Home for Children and Youth With Spina Biﬁda

Robert Burke, MD, MPH, Gregory S. Liptak, MD, MPH, and THE COUNCIL ON CHILDREN WITH DISABILITIES abstract KEY WORDS The pediatric primary care provider in the medical home has a central spina bifida, developmental disability, medical home, chronic condition, hydrocephalus, myelomeningocele, meningomyelocele and unique role in the care of children with spina bifida. The primary ABBREVIATIONS care provider addresses not only the typical issues of preventive and NTD—neural tube defect acute health care but also the needs specific to these children. Optimal AFP—␣-fetoprotein care requires communication and comanagement with pediatric med- UTI—urinary tract infection ical and developmental subspecialists, surgical specialists, therapists, The guidance in this report does not indicate an exclusive course of treatment or serve as a standard of medical care. and community providers. The medical home provider is essential in Variations, taking into account individual circumstances, may be supporting the family and advocating for the child from the time of appropriate. entry into the practice through adolescence, which includes transition This document is copyrighted and is property of the American and transfer to adult health care. This report reviews aspects of care Academy of Pediatrics and its Board of Directors. All authors have filed conflict of interest statements with the American specific to the infant with spina bifida (particularly myelomeningocele) Academy of Pediatrics. Any conflicts have been resolved through that will facilitate optimal medical, functional, and developmental out- a process approved by the Board of Directors. The American comes. Pediatrics 2011;128:e1645–e1657 Academy of Pediatrics has neither solicited nor accepted any commercial involvement in the development of the content of this publication. INTRODUCTION Myelomeningocele is a complex chronic condition that affects the child and the family as well as the health care and related service providers. Although the occurrence of spina bifida* is decreasing, every year more than 1500 children are born with spina bifida in the United States. More than 160 000 Americans younger than 18 years are affected by spina bifida, and the 30-year survival rate has improved to nearly 90%.1 Diagnosis of spina bifida and other neural tube defects (NTDs) is now often made early in pregnancy through ␣-fetoprotein (AFP) screening and fetal ultrasonography, which provides time for decision-making www.pediatrics.org/cgi/doi/10.1542/peds.2011-2219 and planning by families. doi:10.1542/peds.2011-2219 A child born with spina bifida faces a long and multifaceted path of All clinical reports from the American Academy of Pediatrics automatically expire 5 years after publication unless reaffirmed, medical and surgical care. The complexity and severity of spina bifida revised, or retired at or before that time. depends on the type and location of the defect as well as the occur- PEDIATRICS (ISSN Numbers: Print, 0031-4005; Online, 1098-4275). rence of associated conditions. The average lifetime cost is more than Copyright © 2011 by the American Academy of Pediatrics $635 000.2 Children 1 through 17 years of age with spina bifida have average medical expenditures 13 times greater than children without spina bifida.3 The primary care management of spina bifida in the medical home provides an opportunity to optimize the child’s outcomes with improved quality of care in a cost-effective, family- centered, coordinated system.

*Note: in this report, the term “spina biﬁda” is used interchangeably with “myelomeningocele.”

PEDIATRICS Volume 128, Number 6, December 2011 e1645 Downloaded from www.aappublications.org/news by guest on September 29, 2021 BACKGROUND ingocele (or meningomyelocele). If the or 18 and microdeletion of 22q11 are meninges but not the neuronal ele- linked to NTDs.9 Exposure to some Etiology and Risk ments are involved, the lesion is clas- prenatal medications increases the Spina bifida, anencephaly, and other sified as a meningocele. These 2 le- risk of spina bifida. These medications NTDs occur as a result of defective neu- sions represent open NTDs. Closed include valproic acid, carbamazepine, rulation or closure during the third NTDs are those in which the overlying isotretinoin, methotrexate and other week after conception of the embry- skin is intact and include lipomeningo- folic acid antagonists, excess vitamin A onic neural fold, which becomes the cele and lipomyelomeningocele as well or its analogs, and retinoic acid.10 Ma- neural tube. Failure of closure in a ce- as occult spina dysraphisms (Table 1). ternal nutrition (especially folate defi- phalic direction leads to the develop- ciency), alcohol consumption, obesity, ment of anencephaly; failure of closure The etiology of spina bifida includes ge- 4 and fever, either attributable to illness in the caudal direction leads to spina netic and environmental factors. or hot tub/sauna use, can increase bifida. Myelomeningocele arises as a Spina bifida occurs worldwide and in risk, as does maternal diabetes melli- failure of neurulation by approxi- all racial groups, although there are 5 tus.11,12 Family history of previous NTDs mately day 28 after conception. The geographic and ethnic variations. is a significant risk factor, increasing primary defect in the neural tube then Genetic factors are likely to be re- leads secondarily to the failure in the lated to the increased risk in some the risk more than 20-fold (eg, from 13,14 formation of portions of the spinal populations, notably the Irish, Scot- 0.1%–2.5%). cord and the dorsal elements of the tish, and other northern Europeans.6 Occurrence vertebral bodies and overlying tissues, This risk may be related to altered which gives rise to the spina bifida sac. folate metabolism.7 In the United In the United States, the birth preva- A lesion that involves elements of the States, a slightly higher rate occurs lence of spina bifida has decreased spinal cord as well as the meninges in families of Latin descent.8 Chromo- to less than 1 in 1000 live births.15 This within the sac is termed a myelomen- some disorders including trisomy 13 reduction might be related to im-

TABLE 1 Spina Bifida: Types, Description, and Implications Spina Bifida Type Description Clinical Implications Myelomeningocele Open NTD posterior vertebral defect and extrusion of spinal cord Complex multisystem disorder that requires ongoing elements into a meningeal sac; location: cervical, thoracic, monitoring by spina bifida team, enhanced primary lumbar, and/or sacral spine; leads to paraplegia and care in the medical home with bidirectional insensitivity below the lesion and neurogenic bowel and bladder; communication and comanagement with the associated defects include structural brain anomalies (Chiari II multispecialty spina bifida care team, early- malformation, hydrocephalus, brainstem dysfunction intervention and special education services, physical abnormalities of the cerebrum and corpus callosum, learning therapy and adaptive equipment, and developmental disabilities, dislocated hips and clubbed feet) and learning monitoring Meningocele Closed NTD posterior vertebral defect without extrusion of spinal Early closure of spina bifida sac; follow-up by spina bifida cord elements into a meningeal sac; location: cervical, thoracic, team; additional monitoring in the medical home; lumbar, and/or sacral spine; motor deficits are less likely than ongoing monitoring for neurologic function; early- with myelomeningocele; structural brain anomalies and Chiari II intervention monitoring; periodic monitoring for malformation are less likely possible late onset of neurologic signs Occult spinal Closed NTD posterior vertebral defect and with fatty tumor that Early neurosurgical intervention; follow-up by spina dysraphism/lipomeningocele might contain neuronal elements; location: typically lumbar and/ bifida team; additional monitoring in the medical or sacral spine; leads to motor deficits if neuronal elements are home; enhanced primary care in the medical home involved; associated defects include tethered cord; structural and with follow-up by the multispecialty spina bifida brain anomalies and Chiari II malformation are unlikely care team; ongoing monitoring for neurologic deficits; early-intervention monitoring Spina bifida occulta Benign closed NTD posterior vertebral defect only without a Monitoring and reassurance within the medical home meningeal sac; location: lumbar-sacral spine; usually asymptomatic but can be associated with occult spina dysraphism; usually no associated defects Tethered cord Traction injury to the distal spinal cord caused by anomalous Monitoring of all children and youth with open or closed attachment of the spinal cord, which causes subtle and NTD for signs of tethering; changes in lower extremity progressive loss in neural function; can occur with any NTD at strength, function, or sensation; urinary incontinence any time, but often occurs with growth spurts; might be or enuresis; changes in bowel function; or worsening precipitated by ventricular shunt failure scoliosis Spina bifida is a general term for several malformations of the spine and its neural elements, which may be associated with neurologic, neuromotor, developmental, and orthopedic anomalies and are related to structural abnormalities of the brain and cranium.

e1646 FROM THE AMERICAN ACADEMY OF PEDIATRICS Downloaded from www.aappublications.org/news by guest on September 29, 2021 FROM THE AMERICAN ACADEMY OF PEDIATRICS proved prenatal nutrition, including fo- a range of comorbid conditions including prevention because of the in- lic acid supplementation for women of ing learning disabilities, problems creased risk of developing latex aller- childbearing age and the mandatory with attention and executive function, gies.24 The physical and psychological enrichment of flour with folate as well dysfunction of upper extremities, stra- consequences of impaired mobility as the termination of affected fe- bismus, and seizures. They are also and independence, altered appear- tuses.16,17 Despite folic acid fortifica- subject to other functional complica- ance, and the long-term needs of the tion, infants continue to be born with tions such as limitations of movement condition also require identification NTDs and will need both immediate and ambulation, scoliosis, joint insta- and intervention. The child’s physical and long-term medical, surgical, and bility, fractures, bowel and bladder and developmental disabilities, limited related interventions.18 dysfunction, altered growth including mobility, and chronic health conditions precocious puberty, and obesity. These can be barriers to social integration Clinical Manifestations children and teenagers will need ongo- that can have lifelong consequences The effects of spina bifida relate to the location and size of the defect TABLE 2 Systemic Effects of Myelomeningocele and the presence of hydrocephalus, System Effects brain abnormalities such as the Neurologic Chiari II malformation, and other Central Hydrocephalus, Chiari II malformation, dysgenesis of the corpus callosum Cranial nerves Vision, strabismus, hearing, speech, stridor, swallow neurologic and orthopedic condi- Spinal Tethered cord, progressive loss of motor and sensory function tions. Thoracic and higher lumbar Motor Paraplegia, upper extremity hypotonia myelomeningocele lesions are more Sensory Loss of sensation and proprioception likely to be associated with signifi- Cognitive Cognitive deficits including learning disabilities, executive function disorders, attention-deficit/hyperactivity disorder cant motor and sensory deficits and Lower cranium nerve dysfunction structural abnormalities in the Vision lower extremities than are those in Acuity Visual acuity problems, rarely severe Alignment Strabismus, oculomotor disorders 19 the lower lumber or sacral regions. Oromotor Oromotor dysfunction, swallowing disorder Functional defects of the urogenital Respiratory and lower intestinal tract are likely Central Central ventilatory disorder, apnea, sleep apnea, hypoventilation Pulmonary Aspiration, restrictive and obstructive lung disease, pneumonia 20 at all levels. Stridor Hydrocephalus occurs in ϳ85% of in- Gastrointestinal Swallow Swallowing dysfunction; oral, pharyngeal fants with myelomeningocele and, in Neurogenic bowel Constipation, soiling, accidents most cases, necessitates ventricu- Urologic lar shunt placement. Once placed, Neurogenic bladder Bladder atonia/dystonia, increased bladder pressure, leakage/incontinence, reflux, renal failure shunts need to be monitored regu- UTI Bacterial colonization, acute/chronic UTIs larly for potential malfunction. In ad- Genital dition, hydrocephalus is associated Insensitivity Lack of sexual sensation, erectile dysfunction, and retrograde ejaculation in with significant problems in learning males Infertility Early pubertal onset and increased risk of NTD in infants of women with NTD 21 and cognitive function. After birth, Orthopedic the open spinal lesion needs to be Spinal Scoliosis/kyphosis protected from trauma, which could Extremities Decreased mobility, hip dislocation, clubbed feet, osteopenia, fracture, linear growth abnormalities cause additional neurologic damage. Growth In addition, if the lesion is leaking Stature Short stature resulting from limb-length disorders and precocious puberty in cerebrospinal fluid, measures to females Weight Overweight and obesity protect against infection (meningi- Psychology tis) are required. Surgical closure Anxiety/depression Increased anxiety and depression within 72 hours reduces the risks of Behavior Social isolation, anxiety, depression, immaturity, risk-taking behavior, at increased risk for abuse infection and additional spinal cord Social injury.22,23 Inclusion Social isolation, limited friendship, physical and transportation barriers In addition to the primary deficits in Employment Limited work experience, physical/society barriers, loss of health coverage or benefits motor and sensory function, children Myelomeningocele is the most serious and complex NTD and affects multiple body systems; the severity of these effects is and youth with spina bifida experience related to the type and location of the NTD and the extent of neuronal injury.

PEDIATRICS Volume 128, Number 6, December 2011 e1647 Downloaded from www.aappublications.org/news by guest on September 29, 2021 (Table 2).25 Thus, children with myelo- brospinal fluid is released, as occurs erase can be useful for detection of an meningocele are like children with spi- with open myelomeningocele and an- open NTD.33 Chromosome analysis nal cord injuries with the addition of encephaly. Thus, a closed NTD might (karyotype) and microarray testing neurocognitive impairments. not be detected by measurement of the can be performed to determine if the The primary care physician plays a maternal serum AFP level. Elevated NTD is related to chromosome aneu- central role in long-term comprehen- concentrations of AFP can be found in ploidy, microdeletion, or another ge- sive care through collaborative co- other fetal conditions, including twin netic condition.34 management with multiple medical pregnancies, ventral wall defects, fetal The process of fetal screening can be and surgical specialists. It has long tumors, congenital nephrosis, and in- confusing and stressful for the ex- been recognized that the provider of correct dating of the pregnancy. Al- pectant mother and her significant primary care in the medical home though maternal serum AFP concen- other. Counseling and support must be knowledgeable about the tration is a useful screen, the results should be provided to the pregnant unique medical issues of spina bifida should be interpreted with caution. woman and her family about the and its developmental, educational, Maternal serum AFP concentrations screening procedures and their and social consequences.26 more than 2.0 multiples of the median risks, results, and interpretation. during weeks 15 to 20 after conception This counseling should be provided Prevention are considered abnormal and should by a medical geneticist, genetic be repeated. Abnormal concentrations The mandated supplementation of ce- counselor, and members of the fetal are followed by high-resolution ultra- real flours with folic acid in 1998 in the diagnosis team who are familiar with sonography or other evaluations such United States and Canada has been the procedures and are knowledge- as amniocentesis. linked to a reduction in the prevalence able about the prognosis of NTDs. of NTDs.27 Also, all women of childbear- Ultrasonographic examination is used Counseling should include general ing age should ingest 400 ␮g (0.4 mg) to screen for NTDs.30 Two-dimensional information about spina bifida, ob- of folate daily,28 which may decrease ultrasonographic examination during stetric care, choices about the preg- the occurrence of NTDs by up to 70%. the first trimester detects more than nancy and delivery, neonatal care, Women who have had a previous preg- 90% of cases of anencephaly and more surgery, the likelihood of hydroceph- nancy with any NTD and women with than 80% of encephaloceles but fewer alus and its treatment, and the po- spina bifida should take 10 times that than half of spina bifida cases. Second- tential for disabilities and complica- dose or 4000 ␮g (4 mg) daily from the trimester ultrasonography can in- tions. The family should also be made period before conception through crease the detection of spina bifida to aware of the services, care plan, and the first trimester. On the basis of 90% to 95%.31 types of support that will be provided current American Academy of Pediat- Ultrasonographic examination can to them and the child. The option of rics guidelines, the primary care also help to monitor the fetus over fetal surgery to potentially reduce physician should recommend folic time. It can be used to characterize the the extent of neurologic damage of acid to all sexually active females, architecture of the spinal defect and an NTD and to reduce the need for not just those with a history of an the presence of and changes in cere- ventricular shunting should be dis- NTD. Folate supplementation has not bral ventricles over the course of the cussed. Families interested in pursu- been the sole factor in reducing the pregnancy and to identify other struc- ing fetal surgery should be referred occurrence of NTDs. Better overall tural abnormalities. Fetal MRI provides to centers that provide fetal surgery nutrition, improved maternal health, additional information to better char- for NTDs.35 and termination of affected pregnan- acterize the NTD, Chiari II defect, and Families may turn to the pediatric cies are additional factors. status of ventricles and can detect pre- primary care provider for informa- viously unidentified abnormalities.32 tion and guidance when the primary DIAGNOSIS AND INITIAL Amniocentesis may be warranted if care provider has a previous rela- COUNSELING OF THE FAMILY there are concerns that the NTD is re- tionship with the family. In this case, Prenatal screening by measuring ma- lated to a genetic or chromosome dis- it is essential that the primary care ternal serum AFP concentrations at 15 order or to confirm findings from ul- provider have ongoing communica- to 20 weeks of gestation has become trasonography or maternal serum tion with the prenatal diagnostic the standard of care.29 The AFP concen- tests. Measuring amniotic fluid AFP team to ensure that reliable and uni- tration is increased when fetal cere- and amniotic fluid acetylcholinest- form information is provided to fam-

e1648 FROM THE AMERICAN ACADEMY OF PEDIATRICS Downloaded from www.aappublications.org/news by guest on September 29, 2021 FROM THE AMERICAN ACADEMY OF PEDIATRICS ily members as they look for answers provider to ensure optimal care. An in- should be covered and protected using and plan for options and decisions depth understanding of the child’s a sterile technique.22 The dressing for the pregnancy and subsequent needs and those of the parents will de- should not be removed or disturbed care. velop through contacts during sched- except by the neurosurgical team. The uled well-child visits and visits for infant should be placed in a prone or THE ROLE OF THE PRIMARY CARE acute illnesses or other concerns. lateral position to avoid pressure on PROVIDER IN ONGOING CARE IN The primary care provider usually has the lesion. After stabilization in the de- THE MEDICAL HOME first contact with the family, whether livery room, the infant should be The optimal care of the infant, child, or for routine or acute care. The care of shown to the parent(s) before being youth with spina bifida is best provided the individual with spina bifida re- transported to the nursery. Admission by a multispecialty team and a primary quires the primary care provider to be to the NICU or transportation from an care provider who collaborate to pro- able to recognize and treat issues un- outlying hospital to a NICU should be vide comprehensive and coordinated related to the spina bifida (such as promptly arranged. Initial neonatal ex- care and support to the child and fam- gastrointestinal or respiratory tract amination of the infant with an open or ily.36 The spina bifida team typically in- infections) while at the same time suspected closed NTD should be per- cludes a clinical nurse specialist or identifying and rapidly referring for formed shortly after birth and should nurse practitioner; pediatric special- conditions (eg, headaches or new- include all the usual elements of a typ- ists in neurosurgery, orthopedics, onset weakness) that might indicate ical newborn physical examination but urology, developmental pediatrics, serious problems (such as ventricular with particular attention for spinal ir- and physical medicine; physical thera- shunt malfunction). This ability re- regularities, hemangiomata, hair tuft pists; orthotists; psychologists; social quires knowledge about spina bifida or abnormal pigmentation, dimples, or workers; and health education profes- and optimal communication. Special- pits. Assessment of head circumfer- sionals. All these specialists might not ists should routinely communicate ence and tenseness of the anterior fon- be available to all teams and for all with primary care providers by using a tanel for signs of hydrocephalus, clinic settings. The care team’s goal combination of technologies such as movement of the lower extremities, should be to meet the individual needs e-mail, telephone, and fax. Primary level of sensation, and deep tendon re- of each child and family by providing care providers should communicate flexes and anal wink should be noted. comprehensive and coordinated acute symptoms or concerning Abnormalities of the lower extremities care, support, and education to the changes in their patients (eg, head- and flexion or extension contractures patients and families and support aches or urinary symptoms) to the of hips, knees, and ankles should be and assistance to the primary care specialty team. noted. Other physical or neurologic or provider, the child’s school or early- congenital abnormalities, including intervention program, and other ser- Newborn Period structural anomalies of the heart, air- vice providers.37 For the fetus identified with an NTD, on- way, gastrointestinal tract, ribs, and The primary care provider’s interven- going prenatal planning and care are kidneys, should be assessed. Ventricu- tions may begin even before birth and important, as is the timing, location, lar size should be evaluated soon after continue through transfer to adult and method of delivery (ie, in a tertiary birth by ultrasonography, computed health care. Families that have a pre- medical center). However, despite the tomography (CT), or MRI; ultrasonog- existing relationship with a primary availability of prenatal diagnosis, in- raphy and MRI are better than CT care provider may turn to him or her fants continue to present at delivery scanning at identifying a Chiari II for guidance and information at the with previously unidentified open and malformation. time of prenatal diagnosis. In other closed NTDs. The obstetric and infant Neurosurgical consultation should be cases, the family may select a primary care teams should be prepared to ad- obtained shortly after birth, and ar- care provider before or at the time of dress anticipated or unexpected birth rangements for surgical closure delivery. The primary care provider’s of an infant with an open or closed NTD. should be made within 72 hours after confidence in caring for an infant with At birth, a physician, using sterile non- birth; this step further decreases the an NTD might vary depending on latex gloves, should assess the open risk of central nervous system infec- knowledge base and previous experi- lesion to document its location and tion.23 After repair of the myelomenin- ence. The spina bifida team can be a size and to determine if it is leaking gocele, head circumference should be valuable resource for the primary care cerebrospinal fluid.38 The lesion measured regularly and carefully to

PEDIATRICS Volume 128, Number 6, December 2011 e1649 Downloaded from www.aappublications.org/news by guest on September 29, 2021 monitor for increase at a rate greater addition of the specific recommenda- several factors, including shunt infec- than the normal curve. On the basis of tions for patients with spina bifida pro- tion, Chiari II malformation, hydro- clinical evidence, the newborn infant vided by the Spina Bifida Association of cephalus with repeat shunt replace- should be monitored for the next few America and others (see “Resources”). ments, and neuronal migration weeks to determine if a ventricular disorders (eg, hypoplasia of the cor- shunt is indicated. Serial neuroimag- Hydrocephalus pus callosum). These factors distin- ing using ultrasonography can identify Because hydrocephalus develops in guish myelomeningocele from other the progression of hydrocephalus. The most children with open spina bifida disorders that are limited to the spinal patient is reassessed every 3 to 10 (myelomeningocele) and in some chil- cord, such as lipomeningocele and days depending on the level of con- dren with closed lesions, head growth traumatic paraplegia. Developmental cern. Progressive hydrocephalus may should be carefully monitored in all in- and learning disorders may become cause the infant to develop irritability, fants with spina bifida. Changes in evident at any time from infancy vomiting, stridor, or poor feeding; 85% head circumference percentile, the through adolescence; therefore, devel- or more of infants with myelomeningo- tension of the anterior fontanel, opmental surveillance should be part cele will require a ventricular shunt.39 changes in mental status, vomiting, of all routine well-child visits. Particu- The newborn infant should be evalu- and changes in extraocular move- lar attention should be paid to lan- ated by a urologist before discharge. A ment, such as strabismus or the sun- guage and communication, and formal baseline sonogram of the kidneys and set sign should be discussed with the testing should be ordered if concerns bladder is typically performed to de- neurosurgical team. Later, when the develop. Because there is an increased termine if the infant already has renal cranial sutures and fontanels close, risk of vision and hearing problems in involvement or congenital abnormali- the functional status of the ventricu- children with spina bifida and hydro- ties. Measurement of serum urea ni- loperitoneal shunt is determined by cephalus, testing and evaluation trogen (SUN) and creatinine concen- signs such as headache, irritability, should be performed on a regular trations, a voiding cystourethrogram, changes in mental abilities, and vom- basis. and direct measurement of the pres- iting.40 Shunt failure can occur at any The primary care provider should re- sure within the bladder may be indi- time—days, weeks, or even years af- main in close contact with the child’s cated as well. ter insertion. The primary care pro- early-intervention and school program Discharge planning should begin vider needs to become familiar with to ensure that information is shared. soon after birth and should ensure the signs and symptoms of shunt fail- The child’s developmental status, with that all primary and specialty care is ure and should be in communication strengths and weaknesses noted, arranged before discharge. Commu- with the neurosurgical team. should be formally evaluated to ensure nication is open among the special- that appropriate needs are recognized ists, spina bifida team, and support Development and addressed. The primary care pro- programs, including the early- Most people with myelomeningocele vider might need to provide informa- intervention program, the primary have intelligence within the normal tion to the school program and, at care provider, and the family. A written range, but most experience significant times, advocate for the child and fam- discharge plan that focuses on the in- learning disabilities. These disabilities ily for specific educational services. An fant’s individual and unique needs re- include nonverbal learning disorder, emergency plan for the school should lated to the NTD should be provided to poor executive skills, attention deficits, be developed and reviewed annually; it all clinical and support programs and and memory problems.41,42 These cog- may contain information on medical the family. Early follow-up with the pri- nitive difficulties might delay the conditions (eg, if the child develops mary care provider and the spina bi- child’s maturation and impede his or signs of increased intracranial pres- fida team should be arranged. her ability to acquire the skills needed sure) as well as a plan for evacuation Primary care of the infant and child to live independently, which in turn af- from the school for the child with lim- 43 with spina bifida within the medical fects family members. Recognition of ited mobility. home should ensure that all routine these issues and interventions to opti- care, services, intervention, and immu- mize learning and independence are Bowel Function nizations are provided in line with critical for optimizing learning and so- Almost all people with myelomeningo- American Academy of Pediatrics rec- cial participation. cele have disorders of innervation of ommendations in Bright Futures, with Cognitive development is affected by the lower intestinal tract and anus

e1650 FROM THE AMERICAN ACADEMY OF PEDIATRICS Downloaded from www.aappublications.org/news by guest on September 29, 2021 FROM THE AMERICAN ACADEMY OF PEDIATRICS with lower tract dysmotility and poor der and elevated pressure within the this is practiced less often now than in or absent sphincter control, which bladder increase the risk of urinary the past. Differentiating UTI that re- lead to fecal incontinence. Fecal incon- tract infection (UTI) and renal tract in- quires antibiotic treatment from bac- tinence can seriously impair social re- jury resulting from urinary reflux and teruria, which is often present but lations, limit independence, and lower can lead to progressive damage to the does not need to be treated, may be self-esteem. upper urinary tract and kidneys, with difficult and require consultation with The management of incontinence is the risk of progressive renal damage, a urologist. time-consuming; yet, initiating a which still occurs in youth and adults The primary care provider should be bowel-management program early with spina bifida. Early evaluation of aware of and monitor the child’s ad- in development helps both the family urinary tract structure and function by herence to the catheterization pro- and the child to develop a routine, ultrasonography, radiographic imag- gram while maintaining contact with effective program of management ing, and urodynamic testing beginning the urology team regarding medica- and self-care. The goals of a bowel- in infancy can help determine the sta- tions and interventions. Communica- management program are to achieve tus of the kidneys and bladder. Uro- tion from the primary care provider to continence and promote regular logic treatment is aimed at normaliz- the specialist regarding UTIs and other elimination of stool, which can be ing pressure within the bladder, urinary problems is critical. In the achieved with an individualized pro- providing continence, and minimizing case of fever, nonspecific symptoms, gram that may use timed toileting, infection and reflux. Close attention to or changes in urinary tract function, changes in diet, and oral laxatives, urinary tract function is important, be- the primary care provider should suppositories, and enemas, singly or cause changes may indicate UTI or maintain a high index of suspicion for in combination. At the initiation of a tethered cord, including tethering at- UTI. The child should have urinalysis functional bowel program, constipa- tributable to shunt malfunction. Some and urine culture obtained if there is a tion and fecal impaction may neces- children or youth benefit from bladder likelihood of bladder or kidney infec- sitate a bowel clean-out. augmentation or urinary diversion tion. Patterns of bacterial resistance As children become older and capable procedures to increase bladder capac- to antibiotics should be carefully mon- of self-management, they might bene- ity, improve urinary continence, and itored. Oral and, occasionally, intrave- fit from a surgical procedure called reduce the risk of progressive renal nous antibiotics will be required to antegrade continence enema (ACE).44 injury. treat UTIs in these children. Open and In the Malone antegrade continence Management of the urinary tract typi- active communication between the pri- enema (MACE) procedure, the appen- cally begins with the early introduction mary care provider and the pediatric dix and cecum are used to create a of clean intermittent catheterization urology team is essential for maintain- catheterizable stoma.45 In the ACE pro- (CIC) beginning even in infancy and ing optimal renal function and estab- cedure, the cecum is brought up to the close monitoring for changes in blad- lishing urinary continence. Blood pres- abdominal wall and an ostomy tube is der function. If CIC is unable to opti- sure should be monitored to identify inserted, which saves the appendix for mize pressures within the bladder, a hypertension. urologic procedures. With either pro- vesicostomy (a hole placed in the ab- cedure, the patient is able to clean out dominal wall into the bladder) may be Mobility the colon by irrigating it through the indicated. Many patients are also Mobility should be addressed from in- ostomy tube. The irrigation is per- maintained on medication to reduce fancy through adulthood. Creeping or formed daily or every other day; it may vesicoureteral reflux. These and other crawling gives an infant experiences take as long as 2 hours to complete. interventions improve bladder pres- with control and competence. Mobility The ACE/MACE can achieve fecal conti- sures and urinary continence, which aids for toddlers, whether wheeled or nence in ϳ85% of patients. permits the child with myelomeningo- upright, continue this process. Being cele to function better in school and safely mobile in their homes and com- Urinary Tract Function other social settings. The child/teen- munities will help children and teenag- Almost all people with myelomeningo- ager is monitored over time for the oc- ers become more independent. Walk- cele have a neurogenic bladder. They currence of UTIs; some people with re- ing or using a wheelchair not only may not be able to store urine in the peated infections may benefit from promotes confidence and indepen- bladder or may be unable to empty it. chronic antibiotic prophylaxis to re- dence but also helps with overall fit- Failure to completely empty the blad- duce the risk of reinfection, although ness and weight control. In prescrib-

PEDIATRICS Volume 128, Number 6, December 2011 e1651 Downloaded from www.aappublications.org/news by guest on September 29, 2021 ing wheelchairs or other assistive tion and imaging to identify correct- Fitness and well-being should be en- devices, the focus should be on opti- able causes such as tethered spinal couraged from an early age. Physical mizing age-appropriate functionality cord, hydromyelia, or shunt malfunc- activity is especially important for and independence for the child or tion and to maintain function. Motor those with spina bifida. Physical activ- teenager. Many teenagers with spina and sensory function and bowel or ity improves general health, reduces bifida can safely drive a car but need bladder patterns should be part of the obesity, and improves confidence and modifications with hand controls. Driv- evaluation. The pediatric care provider self-image. Children and teenagers ing rehabilitation specialists can be should continue to monitor lower ex- with spina bifida should be encour- helpful in identifying potential chal- tremity function and identify any aged to engage in physical activities lenges to safe driving, providing ap- deterioration. with friends and to participate in propriate driver training, and suggest- adapted sports. Attending summer ing changes needed to the car to make Skin Care camp or using accessible recreational it accessible. The loss of normal skin sensation and facilities can also help with well-being autonomic response to pressure or ir- and the development of self-care skills Orthopedic Problems ritation places people with an NTD or such as dressing, bathing, toileting, Orthopedic problems occur in most spinal cord injury at risk of breakdown and mobility. The teenager should be children with myelomeningocele and of skin as well as the formation of de- educated to inspect areas of insensate tend to be more common and more cubitus ulcerations. Injury to insen- skin while bathing and dressing and to complex with higher-level lesions; they sate skin can occur at any site of pres- report any signs of irritation or ulcer- affect activity more with increasing sure or irritation, including the pelvic ation to prevent decubitus ulceration age and in obese patients.46 Clubfeet, area from prolonged sitting, casting, or other serious injury to the skin. By hip subluxation and dislocation, and or braces or even tight clothing; abra- midadolescence, teenagers should knee instability or contractures may sion from seating or positioning equip- make their own doctor appointments be present at birth, especially in pa- ment; or thermal injuries from any of a and participate in their individualized tients with lumbar and thoracic le- variety heat sources. Injury to insen- education plan (IEP) or 504 plan, if they sions. Unbalanced muscle function sate skin can be permanent damage have one. They should be encouraged leads to worsening of existing joint that requires long-term, complicated, to advocate for themselves in school problems or to the onset of new ortho- and costly treatment and causes addi- and report problems such as teasing pedic disorders. Correcting deformi- tional disabilities.47 Careful monitoring or bullying.49,50 ties, maintaining posture, and promot- of skin integrity and for potential The primary care provider should in- ing ambulation to maximize function sources of injury should begin in include children and youth in the discus- and independence are generally han- fancy and continue along the life span. sion of their health and related issues dled by orthopedists and physical ther- All sign of injury or breakdown of in- from the early school years. Even be- apists. There is also a need to diagnose sensate skin should be treated fore adolescence, children should be and treat fractures, which are more promptly and vigorously to minimize encouraged to participate actively in common in children with myelomenin- the risk of complications.48 health care visits and report their con- gocele, who often have osteopenia. cerns and accomplishments. By early Fractures in insensate limbs may pres- Adolescence adolescence, some time during each ent with redness and swelling without Teenagers face many physical, mental, visit should be set aside for private dis- pain and should be suspected by the emotional, and social changes. They cussions with the child. This time primary care provider. must develop their own identities and should be increased until the teenager Scoliosis occurs in most children with interests and strive for greater inde- has essentially private office visits lesions above the second lumbar ver- pendence. This transition period can with the doctor. Beginning in early ad- tebra (L2). Examination of the back and be challenging, especially for teenag- olescence, transition-related issues, monitoring of the progression of scoli- ers with spina bifida. It is important for such as education about spina bifida, osis should be performed regularly by the parents, teenager, educational sys- treatments and medications, general the spina bifida team and primary care tem, and health care providers to take health issues, and transition and provider, even in preschool-aged chil- an active role in encouraging growth, transfer to adult health care, should dren. Progression of scoliosis should self-confidence, independence, and be discussed. For some youth with sig- prompt a thorough neurologic evalua- competency even before adolescence. nificant cognitive impairment, the goal

e1652 FROM THE AMERICAN ACADEMY OF PEDIATRICS Downloaded from www.aappublications.org/news by guest on September 29, 2021 FROM THE AMERICAN ACADEMY OF PEDIATRICS of independent decision-making might ing linear growth.52 The progression of with supports and strategies for trans- not be achievable, and planning for puberty can be delayed by using leu- fer to adult care providers.56,57 personal and financial guardianship prolide (Lupron), which provides addi- The medical home should be part of might be necessary. These and other tional time for emotional maturation the transition process, which should topics can be introduced during health and improved linear growth; this treat- include exploring educational and vo- maintenance, preventive care, and ment is usually best managed by a pe- cational options, obtaining skills for acute care visits. diatric endocrinologist. Topics of dis- work, finding safe and dependable The primary care provider should de- cussion that are important for girls transportation, deciding on living ar- velop an understanding of the mental with spina bifida include fertility, preg- rangements, developing healthy social health risks associated with spina bi- nancy, and contraceptive choices. Fo- and personal relationships, obtaining fida, including social isolation, learned late supplementation needs to be medical insurance, and identifying helplessness, and low self-esteem. stressed. Female teenagers who are both primary and specialty care pro- Youth with spina bifida are at in- lonely or naive or have learning dis- viders who are knowledgeable in the creased risk of both anxiety and de- abilities are at increased risk of being care of adults with spina bifida. Tran- 51 pression. The primary care provider taken advantage of sexually or even sition planning and discussions within should evaluate these conditions and subject to sexual assault. the medical home beginning early in identify the patient’s risk of suicide. In- For male teenagers, altered sensation, adolescence can help to make these terventions such as increasing physi- erectile dysfunction, and incontinence changes easier and outcomes more cal activity and teaching relaxation affect sexual behaviors, including in- successful. Web sites such as the New techniques may be beneficial. Counsel- tercourse.53 The issues of sexual per- York State Institute for Health Transi- ing and support should be given to the formance may require referral to a tion Training for Youth With Develop- teenager and family members by the professional who is knowledgeable in mental Disabilities Ages 14–25 Years primary care provider. Counseling male sexual disorders. Treatment with (http://healthytransitionsny.org), the through school- or community-based sildenafil (Viagra) or other medica- Adolescent Health Transition Project mental health professionals may be in- tions may be beneficial. Sexuality is af- (http://depts.washington.edu/healthtr), dicated before anxiety or depression fected by self-esteem and self-image the Health Care Transition Initiative worsens. Whenever these conditions and might be an issue not addressed (http://hctransitions.ichp.ufl.edu), and persist or interfere with school or social activities, the adolescent should by the spina bifida team; the primary the National Health Care Transition be referred to a mental health profes- care provider might be the only one to Center’s Got Transition? page (http:// sional who is familiar with the mental address these issues and should initi- gottransition.org) can provide guid- health challenges of teenagers with ate treatment or refer to specialty ser- ance for families and the primary care 54 disabilities. vices when indicated. provider.

Sexuality Transition to Adult Health Care Family Support Issues of sexuality in teenagers and Transitions for adolescents and young Spina bifida has a profound effect on young adults with spina bifida are of- adults with spina bifida should include the family, beginning with the prenatal ten overlooked or actively avoided. For the orderly transfer to accessible diagnosis; at birth, the families have to patients with spina bifida, a number of adult medical care as well as transi- face issues such as deformities and significant issues related to sexual tions in social, educational, vocational, complex surgical interventions for clo- maturation require attention. Preco- and recreational areas.55 As part of sure of the spinal lesion and shunt cious puberty is common in girls with health care transition, all young peo- placement for hydrocephalus. Later, myelomeningocele and hydrocepha- ple need to develop an understanding the extent of physical and developmen- lus; girls with hydrocephalus have of their health care needs and begin to tal disabilities becomes clearer. Fami- menarche at an average age of 10.9 to take responsibility for their health lies must deal with the increased de- 11.4 years rather than the more typical care decisions, as their cognitive and mands for care, including procedures 12.7 years for the average American learning skills allow. Transition plan- such as catheterization and range-of- girl. Precocious puberty affects the ning should focus on building compe- motion exercises, more frequent med- physical, physiologic, and emotional tencies in self-care, fostering indepen- ical appointments, and other interven- outcomes of sexual maturation, includ- dence and self-advocacy, and assisting tions, all of which disrupt the family’s

PEDIATRICS Volume 128, Number 6, December 2011 e1653 Downloaded from www.aappublications.org/news by guest on September 29, 2021 TABLE 3 Care of the Child and Youth With Spina Bifida: Potential Roles of the Pediatric Primary Care Provider Time Concerns Actions Fetuses (prenatal) Diagnosis Consult with diagnostic team Lesion: type and location Review obstetric plan Other central nervous system findings (hydrocephalus, Review findings and implications with family Chiari II malformation) Other physical findings (orthopedic, other) Discuss options and plan Maternal and family stress and anxiety Referral to spina bifida team Family choices and plan Update primary care provider and other provider knowledge base Family education and support Communicate among family and all professionals Newborns Stabilization Consult obstetric and neonatal teams, neurosurgery, others specialists Protection of lesion Family support Examination Monitor head growth Surgical closure Neonatal screening and newborn hearing assessment Hydrocephalus Discharge planning Motor function Primary care and specialty follow-up Bowel and bladder function Orthopedic conditions Maternal/family anxiety and depression Infants General health status Health care per Bright Futures recommendations Growth Referral to spina bifida team and support group Development Referral to early-intervention program Immunizations Monitor head growth and shunt function Spina bifida-specific concerns: hydrocephalus and Assess for feeding or swallow problems shunt function, bowel and bladder function, UTI Discuss latex precautions Supplemental Security Income, Medicaid, and Medicaid Waiver Preschool-aged children General health status Health care per Bright Futures recommendations Growth and development Follow-up with spina bifida team and support group Spina bifida-specific concerns: vision and strabismus, Obtain early-intervention assessment, individualized family service plan motor function and mobility, hydrocephalus and Developmental team evaluation shunt function, bowel and bladder function, UTI Discuss social inclusion and activities Bracing and ambulation Activity and weight management Dental referral Toileting School-aged children General health status Health care per Bright Futures recommendations Growth and development Follow-up with spina bifida team Weight control and healthy diet School transition, service and support, Section 504/individualized education plan Spina bifida-specific concerns: motor function and Screen for attention-deficit/hyperactivity disorder, learning disabilities, mobility, hydrocephalus and shunt function, bowel and executive function disorders and bladder function, tethered cord Bullying and safety Self-care and independence Physical activities and social group participation Neurology and physical therapy follow-up Teens General health status Adolescent health care per American Academy of Pediatrics recommendations Weight control and healthy diet Confidentiality and private visits Sexuality Birth control and folic acid Psychosocial stressors Health care transition Spina bifida specific concerns: motor function and Self-care and independence mobility, tethered cord Developing independence Driving and transportation Spina bifida teen support group Educational and vocational planning Adults General health status Identify health care resources Weight control and healthy diet Health insurance, Social Security Disability Income Spina bifida specific concerns: motor function and Education and employment mobility, bowel and bladder management, skin care Living situation and pressure sores Spina bifida adult support group Transfer to accessible adult health care Concerns and actions are not intended to be limited to a single time period but should be addressed and readdressed as part of ongoing health care across the life span.

e1654 FROM THE AMERICAN ACADEMY OF PEDIATRICS Downloaded from www.aappublications.org/news by guest on September 29, 2021 FROM THE AMERICAN ACADEMY OF PEDIATRICS hopes and plans for both the child and TABLE 4 Primary Care Interventions Typically Provided to Children and Teenagers With Spina themselves as a family unit. Bifida Fetuses (prenatal) The ongoing care of the child with Counsel families in planning and decision-making spina bifida strains each family mem- Provide information on spina bifida Options and assistance with family choices ber. It alters roles and expectations Consult with obstetric, neonatal, and neurosurgical teams and decreases opportunities (eg, the Prenatal (fetal)/postnatal surgery parent who cannot go back to work or Discuss postnatal planning and treatment Family support school). It adds anxiety and stress and Newborns even a sense of guilt, which can be- Postnatal care and stabilization Surgical repair of spinal lesion come the source of depression and Monitoring and surgery for hydrocephalus friction; it increases the risk of family Family support dysfunction and instability.57 Adoles- Referral to multidisciplinary spina bifida term Primary and specialty follow-up 58 cence often increases family stress. Infants Spina bifida affects not only the patient Provide early and frequent follow-up Monitor hydrocephalus but also his or her siblings, who are Provide routine and diagnostic-specific primary care subject to stress and feelings of loss, Give family and sibling teaching and support guilt, frustration, and anger. These Discuss recurrence risk and prevention Refer to early-intervention program feelings have consequences for the Communicate and coordinate with the spina bifida team sibling, for his or her relationship with Toddlers Preventive and well-child care the child with spina bifida, and for the Developmental monitoring entire family.59,60 The psychosocial and Mobility emotional consequences of spina bi- Growth and weight management Preschool-aged children fida on the patient, siblings, and family Transition from early-intervention program to preschool program should be part of the overall care of the Ambulation and mobility child with spina bifida. These factors Bowel and bladder program Social inclusion should be addressed by both the spina School-aged children bifida team and the primary care pro- Identify and characterize learning abilities Ensure appropriate school-based services, Individualized Educational Plan or 504 plan vider in the medical home. A family- Monitor secondary conditions including latex allergy centered approach to care and antici- Encourage physical activities, friends, and household responsibilities pation of potential problems will help Plan for educational transition Encourage independent self-care and toileting to identify and address stressors Preteens early. Begin health care transition planning Advocate for physical activities, recreation and community inclusion, Monitor progress in school SUMMARY Address bullying and safety Monitor growth and puberty The standard of care for children and Encourage independence and self-advocacy youth with spina bifida remains a pro- Develop and maintain friendships gram of comprehensive and multidis- Teens Continue transition and transfer process to adult care, activities and social participation ciplinary support, and the medical Educate regarding spina bifida and self-care home plays a central role. The pediat- Provide private health care visits ric primary care provider has frequent Provide anticipatory guidance regarding sexuality and reproduction Encourage independence in health care decision-making contact with the child, including well- Monitor growth and vital signs (blood pressure) child and acute health care visits, and Encourage physical activities by partnering with the child, parents, Manage weight and nutrition Encourage cardiopulmonary health and fitness and specialty program, builds trust Young adults and can help address the medical, de- Transfer care to a provider of routine adult health care Provide resources for specialty care: neurosurgery, orthopedics, urology, and others velopmental, and psychosocial issues Monitor weight and physical fitness of childhood over time. The primary Provide information regarding finances such as Social Security Disability Income and health insurance care provider also helps to manage on- Monitor education and employment Help to build and maintain friendships and social support groups going care of the child’s multisystem Monitor for deterioration and late-onset complications disorders and the unique nonmedical

PEDIATRICS Volume 128, Number 6, December 2011 e1655 Downloaded from www.aappublications.org/news by guest on September 29, 2021 issues related to spina bifida and is a can help in developing a care plan cov- Nora Wells, MSEd – Family Voices first-line resource for patients and ering from birth through transition Bonnie Strickland, PhD – Maternal and Child Health Bureau families in identifying and addressing and transfer to adult health care, with Georgina Peacock, MD, MPH – Centers for strengths, problems, needs, and ser- focus on specific needs at each age Disease Control and Prevention vices.37 The goals of primary care for and stage. Tables 3 and Table 4 outline Max Wiznitzer, MD – Section on Neurology some of these activities. children and youth with spina bifida STAFF should be to promote optimal health LEAD AUTHORS Stephanie Mucha Skipper, MPH and well-being, to prevent secondary Robert Burke, MD, MPH conditions and disabilities, to build on Gregory S. Liptak, MD, MPH RESOURCES individual strengths and abilities, to COUNCIL ON CHILDREN WITH American Academy of Pediatrics, Med- help in the development of indepen- DISABILITIES EXECUTIVE COMMITTEE, ical Home Initiatives for Children With dence, and to promote social compe- 2010–2011 Special Needs Project Advisory Com- tence and inclusion—in short, to help Nancy A. Murphy, MD, Chairperson mittee. The medical home. Pediatrics. Richard C. Adams, MD patients become capable and contrib- Robert Burke, MD, MPH 2002;110(1 pt 1):184–186. Reaffirmed uting adults despite the challenges of Sandra L. Friedman, MD, MPH May 2008 their chronic health conditions. Miriam Kalichman, MD Susan E. Levy, MD American Academy of Pediatrics, Com- The “Guidelines for Spina Bifida Health Gregory S. Liptak, MD, MPH mittee on Practice and Ambulatory Douglas McNeal, MD Medicine and Bright Futures Steering Care Services Throughout the Lifes- Kenneth W. Norwood Jr, MD pan” and “Health Guide for Parents of Renee M. Turchi, MD, MPH Committee. Recommendations for pre- Children Living With Spina Bifida” and Susan E. Wiley, MD ventive pediatric health care. Pediat- Paul H. Lipkin, MD, Immediate Past rics. 2007;120(6):1376. Reaffirmed Jan- other publications of the Spina Bifida Chairperson Association (see www.sbaa.org) are uary 2011 LIAISONS useful resources for medical home Carolyn Bridgemohan, MD – Section on Spina Bifida Association of America providers. These and other resources Developmental and Behavioral Pediatrics Web site. Available at: www.sbaa.org REFERENCES

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PEDIATRICS Volume 128, Number 6, December 2011 e1657 Downloaded from www.aappublications.org/news by guest on September 29, 2021 Providing a Primary Care Medical Home for Children and Youth With Spina Bifida Robert Burke, Gregory S. Liptak and the Council on Children With Disabilities Pediatrics 2011;128;e1645 DOI: 10.1542/peds.2011-2219 originally published online November 28, 2011;

Updated Information & including high resolution figures, can be found at: Services http://pediatrics.aappublications.org/content/128/6/e1645 References This article cites 59 articles, 8 of which you can access for free at: http://pediatrics.aappublications.org/content/128/6/e1645#BIBL Subspecialty Collections This article, along with others on similar topics, appears in the following collection(s): Current Policy http://www.aappublications.org/cgi/collection/current_policy Council on Children with Disabilities http://www.aappublications.org/cgi/collection/council_on_children_ with_disabilities Permissions & Licensing Information about reproducing this article in parts (figures, tables) or in its entirety can be found online at: http://www.aappublications.org/site/misc/Permissions.xhtml Reprints Information about ordering reprints can be found online: http://www.aappublications.org/site/misc/reprints.xhtml

Downloaded from www.aappublications.org/news by guest on September 29, 2021 Providing a Primary Care Medical Home for Children and Youth With Spina Bifida Robert Burke, Gregory S. Liptak and the Council on Children With Disabilities Pediatrics 2011;128;e1645 DOI: 10.1542/peds.2011-2219 originally published online November 28, 2011;

The online version of this article, along with updated information and services, is located on the World Wide Web at: http://pediatrics.aappublications.org/content/128/6/e1645

Pediatrics is the official journal of the American Academy of Pediatrics. A monthly publication, it has been published continuously since 1948. Pediatrics is owned, published, and trademarked by the American Academy of Pediatrics, 345 Park Avenue, Itasca, Illinois, 60143. Copyright © 2011 by the American Academy of Pediatrics. All rights reserved. Print ISSN: 1073-0397.

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