Congenital Rubella Syndrome

Background

Medical Management Considerations

References

Resources for Families

Advisory Committee

Publication Information

BACKGROUND

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Description and Causes

Congenital rubella syndrome (CRS) is a severe and damaging illness, usually manifesting in infancy, resulting from rubella infection in utero and characterized by a constellation of birth defects. CRS affects virtually all organ systems. The most common manifestation is intrauterine growth retardation. Other common findings include nerve deafness, cataracts, and cardiac anomalies such as ventricular and atrial septal defect. Later sequelae include motor and mental retardation.

A viral illness caused by a togavirus of the genus Rubivirus, rubella infection in children and adults is generally benign. However, maternal infection during the first 12 weeks of pregnancy presents an 80% probability of a fetal infection with serious residual defects, decreasing slightly to 67% probability during weeks 13 and 14, and to 25% by week 26.

Endemic in most countries, no specific treatment for rubella exists. The control of CRS rests on the prevention of maternal viremia by vaccination.

Diagnosis

Serology remains the mainstay of diagnosis of CRS, obtained by demonstrating IgM antibody in cord blood or by showing the persistence of IgG antibody during the first year of life rather than its disappearance within three to six weeks.

Occurrence

Since the introduction of rubella vaccine in the United States in 1969, the incidence of rubella and CRS have decreased by approximately 99%. The following number of confirmed cases were reported in the United Sates: 172 (1997); 353 (1998); and 267 (1999). The United States is on the verge of eliminating CRS, having established 2010 as the target year for elimination of the disease.

Since 2001, the number of rubella cases has been the lowest ever recorded in the United States. 23 in 2001, 18 in 2002, 7 in 2003 and 9 in 2004. During 2001-2004, four CRS cases were reported to CDC; the mother of three of the children were born outside the United States.

In the prevaccine era in countries with endemic rubella, the rate of CRS was 1 per 1,000 live births.

The most recent rubella outbreak in the United States occurred during the winter of 1963-1964. As a result most persons with CRS in the United States are in their thirties. Because the togavirus is neuropathic, these individuals are likely to suffer from challenging behaviors, psychiatric disorders, or epilepsy in addition to visual or hearing impairments. Antiepilectic medications such as carbamazepine and valproic acid may be preferred psychotropic therapy for challenging behaviors and psychiatric disorders. In addition, partial epilepsy is often underdiagnosed.

All birth defects in which rubella infection is etiologically suspected should be investigated and reported to the Centers for Disease Control and Prevention through local or state health departments.

Characteristic Features

At birth, 72% of infants show:

  • Lethargy
  • Hypotonia
  • Large, full or bulging fontanelle
  • Irritability
  • Restlessness/constant movements
  • Vasomotor instability
  • Photophobia
  • Opisthotonic posturing
  • Marked developmental delay
  • Cataracts/congenital glaucoma
  • Congenital heart disease (most commonly patent ductus arteriosus or peripheral pulmonary artery stenosis)
  • Sensorineural deafness
  • Pigmentary retinopathy

Common Associations

  • Mental Retardation
  • Purpura
  • Splenomegaly
  • Jaundice
  • Microcephaly
  • Hydrocephalus
  • Spina bifida
  • Meningoencephalitis
  • Radiolucent bone disease
  • Seizures

MEDICAL MANAGEMENT CONSIDERATIONS

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Note: These considerations are in addition to the normal medical care provided to an individual without Congenital Rubella. All recommendations can be addressed through clinical examination by the primary care provider, unless otherwise noted.

Ongoing

  • Provide supportive treatment.
  • Monitor cardiac, visual and otolaryngologic condition.
  • Monitor progress of motor and mental development.
  • Refer families and caregivers to appropriate community resources such as Regional Centers in California.

Infancy or Early Childhood (Birth to 5 years)

  • Patients with congenital rubella should be considered contagious until they are at least one year old unless nasopharyngeal and urine cultures after three months of age are repeatedly negative for rubella virus.
  • Perform complete cardiac, visual and otolaryngologic evaluations.
  • Monitor for pneumonia and hepatitis.
  • Monitor feeding problems

Late Childhood, Adolescencs & Young Adulthood (6 �E21 years)

  • Progressive rubella panencephalitis, presenting initially with insidious changes in behavior and deteriorating school performance. Occurs only rarely, resembles subacute sclerosing panencephalitis. Poses no substantial risk of infection to others.

REFERENCES

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Peer-reviewed Journal Articles/Academies

Center for Disease Control. (2000). Measles, Rubella, and Congenital Rubella Syndrome — United States and Mexico, 1997-1999. Morbidity and Mortality Weekly Report, 49(46), 1048-1050.

Gold, E. (1996). Almost Extinct Diseases: Measles, Mumps, Rubella, and Pertussis. Pediatrics in Review, 17(4).

Rangel, M. C., Sales, R.M., Valeriano, E.N. (1999). Rubella Outbreaks Among Hispanics in North Carolina: Lessons Learned from a Field Investigation.  Ethnicity and Disease, 9(2), 230-236.

Reef, S.E. (1998). Rubella and congenital rubella Syndrome. Bulletin of the World Health Organization, 76(2), 156.

Special Interest Groups/Other Publications

Batshaw, M.L. (1997). Children with Disabilities,4th edition. Baltimore: Paul H. Brookes Publishing.

Behrman, R.E. 2004. NelsonTextbook of Pediatrics, 16th edition. Philadelphia: W. B. Saunders.

Jones, K.L. (1997). Smith’s Recognizable Patterns of Human Malformation, 5th edition. Philadelphia: W. B. Saunders.

Menkes, J.H., Sarnat, H.B. (2000). Child Neurology, 6th edition. Philadelphia: Lippincott Williams & Wilkins.

RESOURCES FOR FAMILIES

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The Arc (a national organization on mental retardation)

1010 Wayne Avenue, Suite 650

Silver Spring, MD 20910

(800) 433-5255

(301) 565-3842

thearc.org

e-mail: therc@metronet.com

California Regional Centers

(915) 654-1958

www.dds.ca.gov/rc/rclist.cfm

Genetic Alliance

4301 Connecticut Avenue NW,Suite 404

Washington, DC 20008-2304

(800) 336-4363

(202) 966-5557

www.geneticalliance.org

e-mail: inform@geneticalliance.org

March of Dimes Birth Defects Foundation

1275 Mamaroneck Avenue

White Plains, NY 10605

(888) 663-4637

(914) 428-7100

www.marchofdimes.com

e-mail: resourcenter@modimes.org

National Organization for Rare Disorders

PO Box 8923

New Fairfield, CT 06812-8923

(203) 746-6518

www.rarediseases.org

e-mail: rphn@rarediseases.org

ADVISORY COMMITTEE

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Theodore A. Kastner, M.D., M.S.

Mary Ann Lewis, Dr.P.H., R.N., F.A.A.N.

PUBLICATION INFORMATION

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Funded by a grant from the California Department of Developmental Services

For more information, contact:

Center for Health Improvement

1330 21st Street, Suite 100

Sacramento, CA 95814

(916) 901-9645

This document does not provide advice regarding medical diagnosis or treatment for any individual case, and any opinions or statements contained in this document are not intended to serve as a standard of medical care. Physicians are encouraged to view the considerations presented in this document in light of evolving scientific information. This document is not intended for use by the layperson. Reproduction of this document may be done with proper credit given to California Department of Developmental Services and the Center for Health Improvement.