Printer friendly version

A Guide for Parents and Professionals Hilton/Perkins National Program

By Steven Parker, MD
Boston University School of Medicine
in collaboration with parents and professionals from
Perkins School for the Blind, Helen Keller National Center and
St. Luke's-Roosevelt Hospital

The purpose of this brochure is to inform parents, health professionals and other service providers of the unique medical issues experienced by some individuals with congenital rubella syndrome (CRS). As the children of the 1964-1965 rubella epidemic have grown up, much has been learned about the natural history of CRS. Some parents and professionals have had to cope with health issues which unexpectedly developed after the newborn period-problems which only emerged during childhood or early adulthood. By drawing attention to these issues, parents can actively collaborate with the health care system in recognizing these problems and providing appropriate treatment.

What is Rubella?

Rubella, also known as German Measles, is a virus. Infection with rubella in children or adults usually causes a mild, self-limited illness characterized by a rash, swollen glands, low-grade fever, runny eyes, sore throat and joint pain. In some cases, it may be so mild that the infection is not noticed.

What is Congenital Rubella Syndrome (CRS)?

If a pregnant woman contracts rubella, the virus can infect her fetus. Such an infection is especially dangerous in the first four months of pregnancy, when it can cause damage to the developing organs. After that time, the fetus can generally resist the infection with little or no adverse effects. Although any part of the body can be affected, the eyes and ears seem to be especially susceptible to damage from a rubella infection.

Babies born with CRS are very different from each other. Some have significant disabilities, while others are barely affected. In fact, children with CRS are more likely to be different from each other than they are to be similar. That's why it is difficult to present a typical picture of CRS. There is no typical picture.

Why is CRS unique?

There are two distinct phases to the medical issues posed by CRS:

• Early Problems of CRS
• Delayed Problems of CRS

While many health professionals are aware of CRS's early problems, the delayed problems which occasionally develop are not widely known. It is the delayed-onset problems that make CRS very unique.

Early problems of CRS

Some infants with CRS have a single problem. Others have a few problems. Still others have many. In general, those organs which are developing at the time of the infection are most likely to be affected. The following list (with the medical terminology in italics) enumerates the problems which are sometimes associated with CRS:

Hearing Problems: This is the most common disability from CRS and includes hearing loss of any degree (sensorineural hearing loss).

Visual Problems: The vision of children with CRS ranges from normal to total blindness. Problems include cataract (one or both eyes); inflammation of the retina (retinopathy); eye movement problems (nystagmus); and small eyes (microphthalmia). Less common problems include optic atrophy, corneal haze* and glaucoma.

Heart Problems: These include patent ductus arteriosus; pulmonary artery stenosis, pulmonic valve stenosis; and ventricular septal defect.

Neurological Problems: Neurological problems or brain damage may or may not exist. When they do exist, the damage may range from mild to very severe. Problems can include small head (microcephaly); large soft spot of head* (bulging fontanelle); lethargy*; irritability*; learning disabilities; mental retardation (mild, moderate, severe or profound); movement problems (cerebral palsy, spastic diplegia, hypotonia); poor balance and posture; lack of coordination; and seizure disorders.

Growth Problems: Small size* (intrauterine growth retardation).

Genitourinary Problems: Undescended testicles (cryptorchidism); hernia (inguinal hernia); hypospadias.

Other (Less Common) Problems: Swollen glands* (adenopathy); liver inflammation* (hepatitis); low blood count* (hemolytic anemia); low platelet count* (thrombocytopenic purpura); pneumonia* (interstitial pneumonitis); bone lesions* (metaphyseal striations); abnormal palm creases.

Delayed problems of CRS

While CRS is unique in many respects, nothing has proven so perplexing and unexpected as the problems with a delayed onset. It is not exactly clear why they arise. Most experts believe that new problems are either due to a persistent infection of the rubella virus in the affected organ or to the old infection which sets up an autoimmune response (i.e., the body's immune system attempts to destroy its own tissue in the mistaken belief that it is the rubella virus.)

Remember, however, that most people with CRS will not develop any of these late problems. This information is intended to alert you to their existence, not to cause alarm.

There have been two areas in which most of the delayed-onset symptoms of CRS occur: the endocrine (hormonal) system and the brain, although other organs may be affected. This potential for unexpected medical developments makes it important that all persons with CRS receive careful, coordinated health services. Our knowledge of the natural characteristics of CRS is evolving, and it is still possible that unanticipated new medical problems may emerge.

What are the delayed-onset manifestations of CRS? They include:

Diabetes

Children and young adults have an increased risk of contracting diabetes (Insulin Dependent Diabetes Mellitus). Some studies have estimated that 20% of young adults with CRS will develop diabetes.

Symptoms: Excessive thirst, excessive urination, weight loss, irritability, sleepiness, vomiting, persistent abdominal pain, dehydration.

Thyroid

Persons with CRS can develop either an overactive thyroid gland (hyperthyroidism) or an underactive thyroid gland (hypothyroidism).

Symptoms: Heat or cold intolerance, fast or slow heart rate, weight loss or weight gain, irritability, lethargy, weakness, sweating, dry skin, change in voice.

Growth

Rarely, persons with CRS may show evidence of growth hormone deficiency.

Symptoms: Poor growth in height.

Visual

Glaucoma: While glaucoma is infrequent in infants with CRS, it may show up at a later time, especially if cataract surgery has been performed.

Symptoms: Bulging eye, persistent red eye, tearing eye, pain, irritability, increased rubbing or hitting eyes, head banging, loss of visual acuity. (Note: Sometimes glaucoma causes no symptoms until deterioration of vision is noted.)

Other Eye Damage: While most ocular findings are present at birth, there are cases of eye problems emerging later in life (e.g. detached retinas), especially if head banging or eye poking is present.

Hearing

Change in Hearing Ability: Both hearing loss and hearing gains have been recorded after the first few years of life.

Neurological System and Behavior

CRS may be characterized by poorly understood changes in the neurological system.

Symptoms: New onset or changes in seizure disorder, changes in tone, posture, coordination and strength.

Changes in behavior or new behaviors occasionally develop over time.

Symptoms: Attention deficit disorder; impulsivity; self-injurious behaviors; autistic behaviors.

Progressive Rubella Panencephalitis: This is a very rare progressive neurological disorder, which typically begins in the second decade of life. Its prevalence in children with CRS is unknown.

Symptoms: Clumsiness, changes in behavior, intellectual decline, poor balance, spasticity, seizures.

Blood Vessels

Renal Artery Stenosis: CRS may occasionally narrow the caliber of infected blood vessels. This can affect the flow in any vessel; but if present in the renal artery, it can cause increased blood pressure.

Symptoms: Often none, headache.

Common Questions

I'm not a doctor. What can I do about all this?

First, remember that most people with CRS will not develop late and unexpected problems. Your role should be to ensure that the involved health care professionals are aware of this information and that they use it to guide their practice. There is no substitute for an open, trusting relationship with a health care provider. Share your concerns and your observations. Seek a second opinion if you have any uncertainties or unanswered questions. Remember, you are a vital part of the team and, if optimal health care is to be delivered, your voice must be heard.

Also, don't underestimate your important role in educating the health care system about the unique communication needs of person with CRS and assisting in the provision of sensitive and responsive care.

If I see behavioral changes, how will I know if a medical problem is causing them?

You won't. You can't. You shouldn't try. It is extremely difficult to determine the medical reasons (if any) for behavioral changes. From the information we have presented, behavioral changes could be due to a hormonal problem, a neurological problem and/or an eye or ear problem. They could also be due to puberty, to a change in the environment or maybe just having "one of those days." Behavioral changes may or may not signify a medical problem. The best plan is for careful medical evaluation and open communication with your medical provider to sort things out.

How infectious is a child with CRS?

Most newborns with CRS continue to secrete the virus from their nose, mouth and urine. By six months, only one in three continue to do so; by one year, one in 10; and by one and a half years, less than one in 20. After that it is rare for a child to be secreting the virus and the risk for contracting rubella from a child or adult with CRS is extremely low.

How do I know if I am immune to the rubella virus?

The only way to know for sure is to go to your health care provider and ask them to perform a blood test to determine your immunity.

Where Can I Go For More Information?

Perkins School for the Blind
Deaf-Blind Program
175 North Beacon Street
Watertown, MA 02172
Telephone (617) 924-3434 Ext 7500
Fax (617) 926-2027

Helen Keller National Center
111 Middle Neck Road
Sands Point, NY 11050
Telephone (516) 944-8900, Ext 270
Fax (516) 944-7302

St. Luke's-Roosevelt Hospital
Developmental Disabilities Clinic
428 West 59th Street
New York, NY 10010
Telephone (212) 523-6280
Fax (212) 523-6271

We would like to acknowledge the participants of the Symposium on the Long Term Effects of Congenital Rubella Syndrome, hosted by the Hilton/Perkins National Program, for sharing their information and expertise. We also express special thanks to the following individuals who contributed to the development of this brochure:
Barbara Fedun, St. Luke's-Roosevelt Hospital
Karen Norwell, parent
Mary O'Donnell, parent
Pamela Ryan, Perkins School for the Blind
Nancy O'Donnell, Helen Keller National Center

Perkins School for the Blind
Deaf-Blind Program
175 North Beacon Street
Watertown, MA 02172
Telephone (617) 924-3434 Ext 7500
Fax (617) 926-2027