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

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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 out- comes 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.
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