Pediatric Annals

The Child with Multiple Congenital Anomalies

Sandra W Davenport, MD, CM

Abstract

Orchestrating the care of children with multiple congenital anomalies is a challenging, and often a time-consuming and frustrating experience. From the physician's point of view, the major problems are keeping track of who is doing what and figuring out what has not been done. Parents most often cite coordination of services as the biggest problem. By developing a systematic approach to both diagnosis and management (particularly record keeping), the pediatrician can minimize time spent and still provide comprehensive services.

DIAGNOSIS

The diagnostic approach to a child with multiple congenital anomalies requires consideration of three major aspects of care: medical, psychosocial, and developmental. The priorities in each of these categories vary with age, and outlining them can provide a framework for thinking about issues, particularly at annual visits. Table 1 shows an example of such an outline for a child with Down syndrome, but the same technique can be used for other complex syndromes, such as CHARGE syndrome (C for coloboma of the iris or retina, H for heart disease, A for atresia of the choanae, R for retardation of growth or development, G for genital hypoplasia, E for ear anomalies) or spina bifida.1

Medical Diagnosis

Medical diagnosis in a child with multiple problems requires individual diagnosis of each involved organ system and an overall etiologic diagnosis. At birth, the presence of one anomaly should lead to a search for others. When lifethreatening anomalies such as heart disease are present, the less emergent examinations of vision and hearing may not be done. Vision loss due to cataracts occurs in Down syndrome and many other conditions. Hearing loss is usually due to otitis media in Down syndrome, but congenital sensorineural hearing loss may also be present. No organ system should be overlooked at birth, even when it is not usually part of the suspected overall condition. Comprehensive diagnosis is the responsibility of the primary physician. Specialists from a multidisciplinary clinic tend to look at special areas in depth, but one person needs to assure completeness and tie all the pieces together.

Table

The community coordinator should be someone who knows local services and their relationship to state resources rather than relying on the social worker from the multidisciplinary team at a tertiary care center, who may not understand local limitations. The issues parents want the community coordinator to address include:

* Emotional support for the family and child

* Financial assistance

* Support groups

* Babysitting and respite care

* Leisure and recreation opportunities

* Advocacy in obtaining services

Resources

Most physicians do not have the time or inclination to identity resources or to be the advocate. If a county social worker is not available, other agencies may be helpful: community mental health clinics, state programs for Children with Special Health Care needs, state advocacy services, or the social worker or nurse with a developmental disabilities program at a university or children's hospital. A quick way to find both local and national resources is to call one of the national hotlines listed in Table 2. The National Information Service in South Carolina specifically addresses services for developmentally disabled children, the National Information Center for Handicapped Children and Youths targets handicaps of all types, and the National Rehabilitation Information Center has additional information for adults, and specific rehabilitation information. The American Society for Human Genetics can provide names of local geneticists while the National Organization for Rare Disorders has an information service accessible via the commercial computer databank called CompuServe. Many support organizations are available for specific disorders. Many computer networks also are accessible to supply information concerning disabilities, and to discuss problems…

Orchestrating the care of children with multiple congenital anomalies is a challenging, and often a time-consuming and frustrating experience. From the physician's point of view, the major problems are keeping track of who is doing what and figuring out what has not been done. Parents most often cite coordination of services as the biggest problem. By developing a systematic approach to both diagnosis and management (particularly record keeping), the pediatrician can minimize time spent and still provide comprehensive services.

DIAGNOSIS

The diagnostic approach to a child with multiple congenital anomalies requires consideration of three major aspects of care: medical, psychosocial, and developmental. The priorities in each of these categories vary with age, and outlining them can provide a framework for thinking about issues, particularly at annual visits. Table 1 shows an example of such an outline for a child with Down syndrome, but the same technique can be used for other complex syndromes, such as CHARGE syndrome (C for coloboma of the iris or retina, H for heart disease, A for atresia of the choanae, R for retardation of growth or development, G for genital hypoplasia, E for ear anomalies) or spina bifida.1

Medical Diagnosis

Medical diagnosis in a child with multiple problems requires individual diagnosis of each involved organ system and an overall etiologic diagnosis. At birth, the presence of one anomaly should lead to a search for others. When lifethreatening anomalies such as heart disease are present, the less emergent examinations of vision and hearing may not be done. Vision loss due to cataracts occurs in Down syndrome and many other conditions. Hearing loss is usually due to otitis media in Down syndrome, but congenital sensorineural hearing loss may also be present. No organ system should be overlooked at birth, even when it is not usually part of the suspected overall condition. Comprehensive diagnosis is the responsibility of the primary physician. Specialists from a multidisciplinary clinic tend to look at special areas in depth, but one person needs to assure completeness and tie all the pieces together.

Table

TABLE 1Medical, Psychosocial, and Developmental Issues for the Child with Down Syndrome

TABLE 1

Medical, Psychosocial, and Developmental Issues for the Child with Down Syndrome

Referral to a genetics specialist can be very helpful in establishing an etiologic diagnosis. Cleft palate occurs rarely with Down syndrome, but both are common enough that they could occur together by chance. The cleft might also be due to one of more than a hundred other conditions, such as fetal hydantoin syndrome or an unrecognized dominant disorder in the family. For instance, the geneticist may recognize a flat facial profile in one parent leading to a family investigation for Stickler syndrome, in which clefts, high myopia with retinal detachments, osteoarthropathy, and sensorineural hearing loss may occur alone or in combination. Only when the entire family history is analyzed is the diagnosis evident. This will change the prognosis and management planning since sensorineural hearing loss may accompany the conductive loss and the child (and probably a parent and sibling) will need to be monitored for high myopia and arthropathy.

Table

TABLE IMedical, Psychosocial, and Developmental Issues for the Child with Down Syndrome

TABLE I

Medical, Psychosocial, and Developmental Issues for the Child with Down Syndrome

Psychosocial Diagnosis

Psychosocial diagnosis should take into account the family's adjustment to the abnormal situation and their need to have further information. Usually the family cannot absorb all of the information given at birth,2 yet parents become upset if new problems are added piecemeal. Ebr instance, most children with Down syndrome have chronic otitis media leading to pleural effusion rubes. Mentioning this in early infancy prepares the family for this procedure when the appropriate time comes. If the procedure is not needed, they are relieved and pleased.

Families experience a roller coaster of emotions in dealing with these chronic problems.5 In Down syndrome they first have to deal with the shock and grief of having an abnormal child, and sometimes simultaneously with possibly life-threatening heart disease. Things just begin to calm down when the meaning of developmental delay hits with full force. Then multiple respiratory and ear infections occur at a time when financial worries about medical bills are increasing and educational services may be falling short of what the family expects. During periods of high stress, the entire family is in jeopardy. At such times, the pediatrician can be sure the family gets appropriate counseling and case management if this is part of anticipatory guidance.

Developmental Diagnosis

Developmental diagnosis should include separate assessments of the child's sensory and motor systems as well as his or her nutrition and state of health. With global developmental delay, malnutrition should be suspected and a careful search should be made for organic or mechanical causes. In Down syndrome, the problem might be attributed to heart disease prior to surgery, but there may also be an intestinal stenosis or Hirshsprung's disease. In other conditions like spastic quadriplegia with tongue thrust, aggressive nutritional management can improve well-being and decrease hypertonicity, thereby also improving the child's development. In spina bifida, poor eating might be a sign of ArnoldChiari malformation with increased intracranial pressure.

Delay in motor development often is expected to be part of multiple anomaly syndromes but instead may be due to environmental factors, for instance, spastic diplegia as a complication o premature birth can occur in addition to whatever other anomalies may be present. Differences in tone and reflexes should prompt a neurologic diagnosis with follow-up by physical therapy and orthopedics.

It is easy to overlook both mild and severe vision problems and incorrectly attribute all the delays to mental retardation. In both Down syndrome4 and congenital rubella,5 insidious onset of glaucoma can occur in adolescence or adulthood, causing a vision loss which further retards development and yet is completely preventable. Physicians usually look for cataracts in Down syndrome but may not think to look for them in premature babies. A 3-year old girl who was 8 weeks premature came in for developmental assessment of generalized developmental delay and spastic diplegia. It was difficult to view the fundi but a red reflex seemed to be present. On ophthalmologic evaluation, however, she had bilateral dense cataracts. When these were removed she made remarkable improvement in all milestones.

Varying degrees of hearing loss can also be overlooked. If one expects conductive loss due to otitis media in Down syndrome, then the hearing may not be formally tested for months or years. Yet such children can also have moderate to profound sensorineural loss, and the delay in diagnosis would have further detrimental effect on development.6 Sometimes aggressive diagnostic measures are needed. A 13-year-old girl with unrecognized CHARGE syndrome, who had been in programs for the profoundly retarded for years, had never had adequate ocular or auditory examinations because she was so uncooperative. When auditory brainstem responses and ocular examination were obtained under anesthesia, she was found to be profoundly deaf with retinal colobomas. After placement in an intensive deaf education program for a year, she could understand simple sign language and cooperate for venipunctures and other procedures.

MANAGEMENT

Information Tracking

Information tracking is the single most difficult task for the physician. Most of the pertinent information is buried in pages of narrative, and extracting it is very time-consuming. As a result, some important details may fall through the cracks. One or more modified, problem oriented lists in the front of the chart can be helpful. If both the doctor and the nurse are responsible for updating portions of these, the amount of time invested is kept to a minimum.

Figure. The roles of the three coordinators in case management.

Figure. The roles of the three coordinators in case management.

These charts can be as simple or complex as necessary. When a child has multiple ear infections as in Down syndrome, a simple chart with these column headings can improve care: Date, Exam, Treatment, Hearing/Language, Comment. A glance at a chart like this can reveal that the period between otitis media treatments has decreased and that mother is commenting frequently about decreased hearing or lack of language. Such a child probably has a continuous 30 to 45 dB conductive hearing loss and needs referral to ENT and audiology.

More complex problems such as spina bifida deserve more complex charts: Date, Head, Back, Legs, Urinary, Bowel, Eyes, Development, Other. If dates of surgeries, infections, medication changes, IQ testing, and visits to specialists are recorded, then problems can be monitored individually or in relationship to each other. This makes filling out the multiple school, camp, and referral forms relatively painless.

Case Management

The single most common plea of families is to have a case manager, and yet this seems to be the most difficult person to find. Parents want to learn about resources without having to ferret them out for themselves, and also to have someone advocate for them. Ideally, there should be three coordinators: the physician as the medical coordinator, a social worker or public health nurse as the community coordinator, and the special education director or designee as the educational coordinator. If these three coordinators can agree on what the problems are and who will address each area, the work load can be distributed and care improved (Figure).7

Table

TABLE 2Organizations that Provide Information About and Referrals for Disabilities

TABLE 2

Organizations that Provide Information About and Referrals for Disabilities

The community coordinator should be someone who knows local services and their relationship to state resources rather than relying on the social worker from the multidisciplinary team at a tertiary care center, who may not understand local limitations. The issues parents want the community coordinator to address include:

* Emotional support for the family and child

* Financial assistance

* Support groups

* Babysitting and respite care

* Leisure and recreation opportunities

* Advocacy in obtaining services

Resources

Most physicians do not have the time or inclination to identity resources or to be the advocate. If a county social worker is not available, other agencies may be helpful: community mental health clinics, state programs for Children with Special Health Care needs, state advocacy services, or the social worker or nurse with a developmental disabilities program at a university or children's hospital. A quick way to find both local and national resources is to call one of the national hotlines listed in Table 2. The National Information Service in South Carolina specifically addresses services for developmentally disabled children, the National Information Center for Handicapped Children and Youths targets handicaps of all types, and the National Rehabilitation Information Center has additional information for adults, and specific rehabilitation information. The American Society for Human Genetics can provide names of local geneticists while the National Organization for Rare Disorders has an information service accessible via the commercial computer databank called CompuServe. Many support organizations are available for specific disorders. Many computer networks also are accessible to supply information concerning disabilities, and to discuss problems with those who are themselves disabled.

Another list in the front of the chart is helpful to keep track of the resources recommended: Date, Agency/Person, Type of Service, Comment. This list may include clergy, financial services, syndrome support group, community center with recreational activities, etc.

Schools

Although medical diagnosis or educational goals can lead to disputes between physicians and schools, the two major areas of concern are communication and finances. Lack of communication is a two way street. Educators often do not understand the limitations of the physical examination, particularly the neurologic exam, and refer children without clearly stating what they are observing and worried about. The physician, on the other hand, may write a typical medical report which is not useful to the educator. Several possible ways to decrease these problems are as follows:

1. Prepare a generic handout for the teacher with your name, address, phone number, office hours, phone answering hours (if any), nurse's name, and spaces to fill in the child's name and "call us if..." or "if you call, be prepared to tell us (what behavior you observed, what the child was doing, how long the behavior lasted, etc.)."

2. Arrange a meeting either in person or by conference call, preferably when the community coordinator can also be present. If held after a medical center multidisciplinary review and shortly after the school year begins, the maximum amount of information is available for use in planning.

3. Many teachers and parents use a notebook which they send back and forth to communicate with each other. This procedure can be extended to include the physician.

Finances are the other big concern. If a child is referred for an evaluation related to school planning, the school may pay for the service. However, if the physician notes that the child is wheezing that day and orders x-rays or blood tests, the school does not expect to pay. These medical costs should be billed separately. As more technology dependent children go to home based care and to school, financing is becoming increasingly difficult. No one wants to foot the bill. If all ramifications of this issue have been discussed prior to hospital discharge, the number of phone calls and unpaid bills are minimized later.

Communication

Next to keeping track of all the people and information, communication is the most arduous task. Many parents are willing to keep a three ring notebook which contains sections for medical information, printed material in lay language, and educational plans. If the parents have discharge summaries and a copy of the problem list with dates of procedures and medications, they will have accurate medical information available when visiting a new consultant or in case of emergency when travelling. This also cuts down on the requests for information. The section with printed materials helps the physician keep track of what the parents are being told and also allows teady access to the source in order to request copies for the office files.

A consult form sent with the family can also be useful, particularly when dealing with medical centers where generation of consultation reports are often delayed. The consultant or nurse can jot down a short note at the end of the visit which can be returned by the patient via the notebook, or by mail.

SUMMARY

Specific ways to improve the delivery of comprehensive care to a family whose child has multiple congenital anomalies include the following:

1. Develop a diagnostic plan which establishes medical, psychosocial, and developmental priorities at different ages.

2. Keep lists in the front of the chart which allow easy reference regarding problems, procedures, and resources.

3. Establish communication with designated community and educational coordinators, discussing who will be rendering which services.

4. Ask the parents to keep a notebook which will serve as a repository for notes and communication, accessible to all people caring for the child.

Though some of these ideas require extra time at the beginning, the time saved later can be significant.

REFERENCES

1. Davenport SLH. Multiple congenital anomalies, an approach to management. Pediatrician. 1988;15:37-44.

2. Olson J, Edwards M, Hunter JA. The physician's role in delivering sensitive information to families with handicapped infants. Clin Pediatr. 1987;26:231-234.

3. Waisbten SE. Parents' reactions after the birth of a developmental^ disabled child. Am J Ment Defic 1980;84:345-351.

4. Caputo AR, Wagner RS, Reynolds DR, Guo S, Goel AK. Down syndrome: clinical review of ocular features. CUn Pediatr. l989;28:35S-358.

5. Sever JL, South MA. Shaver KA. Delayed manifestations of congenital rubella. Rev Inject Dis. 1985;7(suppll):S164-St69.

6. Balkany TJ, Downs MP, Jafek BW1 Krajicek MJ. Heating loss in Down's syndrome: A treatable handicap more common than generally recognized. Clin Pediaa, 1979;18:1t6-118.

7. Utrey G, Hudler M, Marshall R, Wuori D, Cranston C. A community model for physician, educator, and parent collaboration for management of children with developmental and behavioral disorders. CSn Pediarr. 1987;26:235-239.

TABLE 1

Medical, Psychosocial, and Developmental Issues for the Child with Down Syndrome

TABLE I

Medical, Psychosocial, and Developmental Issues for the Child with Down Syndrome

TABLE 2

Organizations that Provide Information About and Referrals for Disabilities

10.3928/0090-4481-19900101-06

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