Exencephaly

Congenital Rubella and the Rehabilitation Counselor

As children of the rubella epidemic attain adulthood, many are seeking help from rehabilitation counselors in finding employment or continuing their education. A basic understanding of the psychological, physical, and neurological effects of prenatal rubella are important to rehabilitation peersonnel who work with these young people. Rehabilitation counselors should be aware of the possibility of secondary effects of rubella in young adults, which may occur together with primary effects, or which may appear later in life. Since pre-natal rubella is carried by the circulatory system, virtually any physiological, neurological or vital function may be weakened. Rehabilitation counselors should be vigilant in detecting problems which may affect educational and career choices, and general adjustment.

Handicapping Effects of Rubella

The most common handicap associated with rubella is hearing loss, which affects about 73% of the cases. The losses are generally bilateral and sensorineural, although there may be accompanying conductive loss. The audiogram (see glossary) tends to be flat or cup shaped. Most, but not all, losses are stable. It should be noted that the flat or cup-shaped audiogram results in more usable or correctable hearing than that of most neurological deafness with similar pure-tone averages. (Vernon & Hicks, 1980, pp. 529-534).

About 33% of youths affected by congenital rubella have visual defects: Glaucoma - 4%, Cataracts - 20-50% (Krugman, 1965), Microphthalmia (under-sized eyes), or a type of Retinitis pigmentosa discussed below - 50%.

A non-neurological, but psychologically traumatic, disorder in about 50% of children with congenital rubella is urogenital disorder for which the correction is surgery. These include cryptochidism (undescended testicles), inguinal hernia, and hypospadias. Children may also have uretal stenosis (a narrowing of the ureter).

Other syndromes with indirect psychological ramifications are the endocrine disturbances: diabetes mellitus - 15 to 40%; Addisonhs disease (chronic adrenocortico-insufficiency); hypothyroidism; and Grave's disease (hyperthyroidism).

Psychological Effects

Chess and Fernandez (1980, pp. 998-1001) divide the psychological sequelae of rubella infection into 2 major categories: reactive behavior disorder; and chronic brain syndrome. The first group of children may indeed have neurological damage resulting in motor and/or perceptual difficulties. Because this damage may result in serious problems in coping with tasks and also in interpersonal interactions, the result may be a reactive behavior disorder. In the second group, damage to the brain has a direct effect on behavior, and is known as "chronic brain syndrome." The actual behavior disorders associated with "chronic brain syndrom" often include the following:

* perseveration

* mood disorders

positive-negative shifts (lability)

impulsivity

hypermotility

hypomotility (inertia)

* high distractibility

* difficulty in shifting attention.

In the case of the highly motivated young adult who is trying to concentrate, and cannot, or the distress of a person who cannot shift his attention, the neurological dysfunction may tragically be mistaken for intentional behavior.

Chess and Fernandez (1980, pp. 998-1001) studies 83 deaf children of normal intelligence. Of these, only eight presented symptoms of neurological damage in addition to deafness. Of these, three were diagnosed as having chronic brain syndrome, one as having Reactive behavior disorder. The remaining four children were not considered to have a true behavior disorder (although each had been referred by psychologists as having possible neurological damage).

The difference in the reports on pathological findings on non-surviving children with congenital rubella (Rorke and Spiro, 1967, p. 249), below and on surviving children (Chess and Fernandez, 1980, pp. 998-1001) is remarkable. Of the 214 children followed longitudinally by Chess and Fernandez, a full 83 were deaf but of normal intelligence. A full 90% of these had no additional detected neurological damage. The sample also yielded the following groups: a group of nonhandicapped children with congenital rubella; a group of deaf-retarded children; a group of deaf-blind children; and a group of deaf-blind retarded children.

Overall, "The rate of mental retardation among children with congenital rubella is about 42%. (Vernon & Hicks, 1980, p. 996.) There is also 7.4% rate of autism which is far above that found in the general population" (Cluss, 1977, cited in Vernon & Hicks, 1980, p. 996). The association of mental retardation and/or autism with cataracts in people with congenital rubella is discussed below.

Neurological Effects

The major issue in the study of neuro-psychological results of rubella in-utero seems to be the question of whether rubella causes typical developmental difference in the embryo or feotus, or whether the damage done by rubella is the result of the haphazard destruction resulting from inflammation.

Friedman and Cohen (1947, pp. 178-185) presented evidence that a thirteen-month-old "rubella-child" had "numerous defects of the cerebrum," including "agenesis of the corpus callosum and anterior commissure."

In addition, Kappers (1959, pp. 99-106) reported on the finding that a seven-week-old aborted embryo presented infoldings of the hemispheric neuroepithelium, cranioschisis, exencephaly and excessive vascularity with endothelial proliferation --in short, severe malformation of the brain. It was not clear from the report whether the abortion was spontaneous or induced, but in light of later reports one might speculate that the foetus spontaneously aborted due to abnormalities apart from, or in addition to, abnormalities engendered by rubella.

Menser and Reye (1974, pp. 215-218), in their review of the entire spectrum of the pathology of congenital rubella, mention the prolonged persistence of rubella virus in the nervous systems of affected children. The nervous sytem is not the only system inflamed in this circumstance (although rubella virus has apparently been isolated in, for instance, the vitreous humor), but the entire body of the child is affected, with the circulatory system the prime target. It would seem that the virus is transmitted through the blood, with infection of the circulatory system itself the logical next step. The attendant hypertrophy of arterial walls, along with weakened areas, may create a great susceptibility to hemorrhaging in any tissue throughout the body. This includes the circulatory system of the brain, as well as the heart and kidneys.

Among the generalizations made by Menser and Reye (1974, pp. 215-218), is a particularly high incidence of mental retardation in children with congenital rubella who also have bilateral cataracts. The speculation is that the cataracts and mental retardation are co-occurring residual effects of the persistence of rubella in the central nervous systems of these children. There seems, further, to be a statistically higher percentage among these children of "subtle cerebral problems," such as autism or "communication disorders" (Menser & Reye, 1974, pp. 215-218).

The retinopathy associated with rubella seems to involve clumped groups of pigmented cells (somewhat similar to the cell pigmentation in R.P.) which do not impair vision. The clumps of pigmented cells seem to accompany sites of hermorrhagic lesions. These problems may develop postnatally due to continued rubella inflammation or due to the development of acute lesions in circulatory tissue already weakened by prior inflammation.

Rorke and Spiro (1967, p. 243) report specifically on neurological damage associated with maternal rubella. They note that rubella does not predict injury to any typical part of the nervous system. They do, however, note that because rubella attacks the circulatory system first, lesions to the central nervous system are associated with circulatory deficits and the attendant lack of nutrition (in the medical sense of abundant blood supply for healing and development) to the adjoining cortex. Brain injuries typically are caused by hemorrhages and contain cell detritus from the circulatory system and blood, as well as dead brain tissue. These may occur anywhere in the brain, and of course, the carotid arteries may be among those affected, causing lack of blood supply to the brain. In one of the eight infants studied, renal circulatory lesions were responsible for general systemic failure. In cases like these, the chemical composition of the blood influences the functioning of the central nervous system.

Rorke and Spiro (1967, p.243) also note the generally accepted observation that rubella in utero inhibits cell mitosis, so that any organ may be "cell-poor." They make the point that, although any single portion of the brain may have fewer than the normal number of cells for that area, the cells in the area are nonetheless morphologically normal.

Additionally, the smaller number of cells in the brain of the child with congenital rubella may result in measurably smaller brain size, with the resultant limitation on mental capacity, but the brain is morphologically normal-- without structural or cellular differences from the normal brain. The brain is "micro-encephalic."

Rorke and Spiro (1967, p.243) studied 89 patients who had died of congenital rubella. Their study reported four major findings:

* The abnormality of cerebral blood cells.

* A subnormal number of otherwise morphologically normal cells.

* Minimal inflammation of the nervous system (defined as meningitis with or without encephalitis).

* Actual malformations of the brain are the most infrequent neural abnormality associated with congenital rubella infection.

In reference to the second observation, Rorke and Spiro (1967, p.243) suggest that there seems to be some retardation in the myelination process in the brains of babies with congenital rubella. In other words, the white matter, connective tissue within the brain, does not develop robustly.

They also note the prevalence of circulatory lesions in the "white and deep gray" matter, although it may be noted that all the patients they examined had died of their disease-related lesions. Neurological examination of surviving congenital rubella patients through such avenues as the CAT scan may reveal lesions in the cortex or the more peripheral nervous system.

Vernon and Hicks (1980, pp.529-534), reporting on the handicapping conditions associated with the neurological damage referred to above, cite the reduction of cell division in the embryo, the failure of whatever systems have not already matured in the foetus when the rubella strikes, and the continued inflammation (usually from six to eighteen months postnatally but in some rare cases up to 29 years) with its attendant cell damage. Chronic pathology of the immune system may also result. In these ways, they account for the fact that "the growth of key organs and parts of the body will be detective, delayed, and/or incomplete" (Vernon & Hicks, 1980, p. 993).

Conclusion

Congenital rubella is thus not associated with any typical central neurological deficit. The high incidence of neurological damage in congenital rubella is associated with maturational deficits (as opposed to developmental anomalies) indirect effects of histological (blood), circulatory, glandular, or immune system inflammation, or (rarely) to actual continued neurological inflammation.

Among persons with congenital rubella, diagnosable neurological damage is generally rare in young deaf people of normal intelligence,, but has been found to increase greatly in occurrence in persons who are deaf-blind, deaf retarded, and deaf-blind-retarded. When perceptual and/or psychological problems occur in young adults with congenital rubella, the rehabilitation counselor should be on the alert for delayed renal, cardiac, or endocrine problems related to lesions from the original inflammation. For example, a young person who is perceived as having a poor emotional attitude toward work should be screened for symptoms of hypothyroidism (weight gain, hair loss) and symptoms of hyperthyroidism (fatigue, weight loss, hyperactivity, irritability). In such a case, diagnostic tests should also be done for diabetes, for other endocrine problems, and for kidney disease.

The complaints of young people with gongenital rubella may be mistaken for irresponsible behavior, immaturity, depression, malingering or conversion disorder. In other words disease may be suspected to be "psychosomatic" in origin. A very thorough physical examination should be done by a physician who has been alerted to the possibility that the young person has congenital rubella and may suffer from delayed effects of lesions or actual ongoing inflammation. (The issue of continuing inflammation is, however, controversial.)

When attentional deficits are seen in clients (for example, in educational settings) who have had congenital rubella, the client should be referred to a neurologist for an EEG. An EEG is a non-invasive neurological test that indicates whether brain function is normal. Attentional deficit produces an atypical EEG: a small but detectable difference from normal invoked electrical response to stimuli. Many occupational therapists can now provide therapy for attentional deficit syndrome (ADS).

Any client born between 1963 and 1965 should be considered at risk for neurological problems and/or psychological problems attributable directly or indirectly to rubella lesions. To summarize: psychoneurological sequelae of congenital rubella include: mental retardation (42%); autism (7.4% as opposed to 0.7% in the general population); impulsivity, hyperactivity, rigidity and suspiciousness (50% of non-retarded postrubella-deafened people); and learning disabilities (particularly aphasia in postrubella children of normal intellect) with neurological origin. Non-central neurological complications which may result in psychological problems include: blindness resulting from cataracts and/or glaucoma; deafness in 72% (with severe/profound losses in 69%); heart problem (in later life pulmonary artery defects); urogenital disorders (ex., cryptorchidism, inguinal hernias, hypospadias, meatal stenosis), endoctrine problems and kidney disease (Vernon & Hicks, 1980, pp. 529-534).

Therefore, the rehabilitation professional should be on the alert for young men and women - in their mid-twenties, (particularly deaf individuals), who seem to have psychological adjustment problems in addition to their primary handicap. They may be exhibiting a long-term effect of congenital rubella that can be remedied by proper occupational therapy (in the case of neurological sequelae-- such as aphasia) or appropriate medical treatment (where psychological problems are secondary to a medical problem--such as urogenital disorder).

This kind of observation would of course indicate medical, neurological, and/or psychological referral, and careful follow-up.

References

Chess, S. & Fernandez, P. (1980). "Neurologic damage and behavior disorder in rubella children." American Annals of the Deaf, 125, 998-1001.

Friedman, M. & Cohen, P. (1947). American Journal of Disabled Children, 73:178-185.

Graham, P. & Rutter, M. (1968). Organic Brain Dysfunction and child psychiatric disorder. British Medical Journal, 3, 697-700.

Kappers, A. (1959). "Les malformations cerebrales consecutives a l'embryopathie rubeoleuse." In Heuyer, Field and Grumer, (Eds.), Malformations congenitales du cerveau, Paris, Masson et Cie, pp. 99-106.

Krugman, S. (1965). Rubella symposium. American Journal of Disease of Children, 110, 345-472.

Menser, M.A. & Reye, R.D.K. (1974). The pathology of congenital rubella: A review written by request. Pathology, 6, 215-218.

Rorker, S. & Spiro. (1967). Journal of Pediatrics, 70, 243.

Rorke, S. (1973). Archives of Otolaryngology, 98, 249.

Vernon, McK., Grieu, B.J. & Shaver, K. (1980). "Handicapping conditions associated with the Congenital Rubella Syndrome." American Annals of the Deaf, 125, 993-997.

Vernon, M. and Hicks, D. (1980). Overview of rubella, herpes simplex, cytomegalovirus, and other viral diseases: Their relationship to deafness. American Annals of the Deaf, 125, 529-534.

Glossary

Agenesis-- lack of growth

Anterior commissure-- forward large central fissure in the brain

Audiogram-- a chart of hearing loss, generally focusing on decibel loss in the speech range (500 to 2000). The audiogram of sensory nerve deafness tends to slope downward at the higher frequencies, as many deaf people can hear lower sounds best. (In rubella etiology this may not be true: the chart may be flat, or may dip in the mid-range)

Bilateral-- both sides.

CNS-- the central nervous system, i.e., the brain

Cell detritus-- bits of dead cell matter

Conductive hearing loss- due to bone and supporting structures

Corpus callosum-- connective neural tissue between the two sides of the brain

Cranioschisis-- a split head, a condition where the two sides of the brain are not connected

Encephalitis-- inflammation of the brain

Endothelial proliferation-- overgrowth of the inner layer of brain tissue.

Exencephaly-- brain tissue growing outside the brain proper

Hemorrhagic--bleeding

Histochemically-- involving the chemical composition of the blood, especially related to impurities

Histological-- having to do with blood

Hypertrophy-- overgrowth

Hypospadias-- defect of the urethra, the passage leading out of the body from the bladder

Lesions-- insults, traumas, injuries

Meatal stenosis-- narrowing of the ureter, the passage from the kidney to the bladder

Meningitis-- inflammation of the protective outer layers of the brain

Microencephaly-- small brain

Microphthalmia-- small eyes

Mitosis-- cell division for growth and replacement

Myelination-- development of white matter; brain organization; development of the cerebral cortex; the development of well-developed pathways or synapses among brain cells

Neuroepithelium-- the epithelial tissue of the brain, the pigmented layer, literally the "skin" of the brain

Perseveration-- repeating the same behavior, over and over again

RP-- Retinitis pimentosa, a deterioration of the pigmented layer of the retina, resulting in night-blindness and tunnel vision

Renal-- kidney

Retinopathy-- a disorder of the retina

Sensorineural-- related to the nervous system

Ureter-- the tube from the kidney to the bladder

Vitreous humor-- the fluid which fills the inner eye

COPYRIGHT 1990 National Rehabilitation Association
COPYRIGHT 2004 Gale Group