Diagnosing Down syndrome: please don�t say �sorry�

Doctors are getting better at telling parents their baby has Down syndrome. According to research by a Harvard medical student, they need to.

Down syndrome is one of the better known disabilities, although there was a time when people with the condition who survived childhood tended to be hidden away in institutions.

Today things are different. People with Down (named after the doctor who first described the syndrome) are on the up: they go to ordinary schools and to special Olympics; they star in films and photographic exhibitions; they even provide the waiting staff of a pizza restaurant in Rome.

The quirk of nature that produces the syndrome happens at conception, when an extra copy of the 21st chromosome is made – giving three per cell instead of two. In the United States it is estimated that one in every 800 to 1000 births – around 5000 a year – is to an infant with trisomy 21. This affects both mental and physical development, but early intervention programs of physical, speech and occupational therapy are overcoming these disabilities to a remarkable degree.

Again, as more children with Down syndrome are educated in mainstream schools, they are further pushing back the expectations of the academic community. Other researchers are looking into the neurobiology of the syndrome and a group centred on Duke University is investigating the effects of a drug, typically used for Alzheimer’s disease, on children with DS.

Thanks to these scientific advances and changes in public perception, the average child born with Down syndrome in America and similar societies today can expect to reside at home, go to school, learn to read, hold a job, and live well into their 50s.

Doctors in the dock
So why are mothers finding the experience of bringing a child with Down syndrome into the world one fraught with anxiety and frustration? Research carried out recently by medical student Brian Skotko confirms this is common and traces the problem to a woeful lack of sensitivity and even objectivity on the part of many doctors attending such births.

Instead of a morale-boosting, “Congratulations on the birth of a beautiful infant,” their opening gambit at the mother’s bedside is, too often, “I’m sorry,” as though a tragedy had occurred. Usually they do not ensure that the husband is present. Uninformed, some paint scenarios about perpetual children who are often sick and who will never be able to live on their own or hold down a job.

They use language that is insensitive and even offensive: “The doctor flat out told my husband that this could have been prevented or discontinued at an earlier stage of the pregnancy,” says one mother. Others have heard their children categorised as “Downs kids”, “Mongoloid”, and even “FLK”—for “funny looking kid”.

These examples come from a study, reported by Skotko in the journal Pediatrics, of mothers who learned after delivery that their child had Down syndrome.1  Very few found it a positive experience. Frequently they were chided for not having prenatal testing, or were advised to offer their child for adoption or to place him or her in an institution. “Just tell people he died and go on to have more children,” one mother was told.

Printed information was often lacking or, when provided, was out-of-date. A mother in 1995 was loaned a book from the 1960s that referred to DS as Mongolism. Another who gave birth in 1991 received material starting with, “So you’ve decided to keep your DS infant?” Doctors also failed to give mothers sufficient contact numbers for support groups, even though such support can make a major difference to new parents of children with Down syndrome.

There is good news, however. The worst reported instances come from the 1980s and earlier, and some mothers who gave birth more recently reported positive experiences. “My physician has a child with cerebral palsy,” said a mother who had a child with DS in 1992. “I saw how much he loved his child and heard of his family’s struggle to help their child. His caring about me and my family meant a lot to me.” Another who gave birth in 1999 said: “Although [the paediatrician] told us the infant had DS, she was very positive. She said they were generally good infants and very loving.” Yet another whose daughter was born in 2001 reported that it helped her a lot when her paediatrician simply said, “She’s beautiful.”

Still, the improvement overall is modest, says Skotko. “Doctors have gotten better over time, but its been a very slow change.”

Celebrating life with Down syndrome
It is no coincidence that Brian Skotko, a joint degree student at Harvard Medical School and Harvard’s John F Kennedy School of Government, should be doing this research. He grew up in Strongsville, Ohio, with a younger sister who has Down syndrome. “Kristin, who is now 24, has been a life coach for me, my family, and everyone in our community,” he told MercatorNet. “On a daily basis she reminds us that expectations should replace limitations and that confidence should conquer fear. Kristin is courageous, funny and bold. I deeply admire her sense of commitment and selflessness.”

Love and admiration for his sister has inspired a wider commitment to raising awareness of the capabilities of people with DS, and it was while gathering stories for a book,  Common Threads: Celebrating Life with Down Syndrome (2001), that Skotko began to realise the extent of frustration among mothers over insensitive physicians with low expectations.

Entering medical school in 2001, he studied the research literature to see what information was available to guide doctors when delivering sensitive diagnoses like Down syndrome. “When I found that the studies were anecdotal or, at best, limited to small sample sizes, I decided to embark on a large, analytical study looking at how mothers felt the medical community was doing,” he says. The result was a cross-cultural study conducted in Spain as well as the United States, and based on an 11-page survey developed from published studies and anecdotal accounts in popular literature.

With the help of five Down syndrome parent organisations in the United States, the survey was mailed to nearly 3000 members. In addition to 985 responses from mothers with a postnatal diagnosis, there were 141 from women who had a definite diagnosis during pregnancy, and their experiences were analysed in a separate study, published in the American Journal of Obstetrics and Gynecology.2  

Results from the studies in Spain—where things are not very different (“improvement is needed everywhere”)—were published in the journal Mental Retardation in June, and a comparison study between the United States and Spain will be published in an upcoming issue of the Italian Journal of Pediatrics.

Skotko’s supervisor at Harvard has given the research high praise: “These two studies offer the most searching review of parents’ experiences of postnatal and prenatal presentation of a diagnosis of Down syndrome ever published, and they have been done with considerable statistical care. This is clearly a case of families teaching physicians,” says Professor Allen Crocker, director of the Down Syndrome program at Children’s Hospital Boston.

Testing times
In the United States and similar countries all pregnant women over the age of 35 are now offered prenatal testing for Down syndrome, and younger women may be encouraged to have the test or may ask for it on their own. (Almost half the women in Skotko’s prenatal diagnosis group were 35 or younger when they received the diagnosis.) The process typically begins with a screening test which indicates the chances of having a child with the condition. A definite diagnosis can only be given by means of amniocentesis or chorionic villus sampling—tests which carry a risk of up to 2 per cent of miscarriage.

Not all women who embark on testing understand that screening tests may give false negative or false positive results, and that in any case they are only indicative. Skotko heard from 103 mothers who had a screening test only, and most of them had not understood that they were at an increased risk of having a child with DS. Perhaps, if they had, some of them might have proceeded to a diagnostic test and an abortion, since this is the assumption underlying the whole process and what happens, according to various studies, in up to 90 per cent of cases.3

That, of course, makes the minority who continue—knowing full well that their child will have Down syndrome—a very interesting group, and Skotko’s research throws some light on these women. Among the 141 in his second study the majority were white (79 per cent), Catholic (42 per cent) or Protestant (35 per cent) and college-educated. Their average household income was US$92,500.

The reasons these predominantly educated, middle-class women gave for continuing their pregnancies were, in decreasing order of importance: their conscience, their religion, their husband/partner’s opinion, material they had found on their own, talking to a parent who had a child with Down, and positive images or stories in printed material about people with the condition.

Encouragement by their doctor does not feature in the list. Although these mothers were satisfied with the medical care they received, they were generally as frustrated with the information process as the mothers who received a postnatal diagnosis.

The majority had been scared and anxious after getting their screening test result, largely because DS had not been explained to them or, for those who already knew something about the condition, because up-to-date information had not been given. The average gestational age of their babies was already 19.4 weeks when they proceeded to amniocentesis, and receiving the diagnosis—more than two-thirds of them without their spouse or partner present—did not allay their anxiety. About half felt rushed or pressured into making a decision about continuing the pregnancy, and this increased their fear.

This was not the experience of all mothers, however. A few were happy about the prenatal experience because their doctor explained the test results well and had something positive to say about DS. These were mainly women with higher education. And, once again, the doctors have been getting better at dealing with the situation. Recent printed materials were given a good rating for positive content about DS, and about half of the mothers felt encouraged by this information to continue their pregnancy. They felt their doctor supported them in this—especially in more recent years.

These mothers also tended to be happier over the birth of their infant with DS than their counterparts who received the diagnosis post-natally. “This difference might stem from the fact that mothers who received a prenatal diagnosis tended to resolve any grief before their child was born,” Skotko suggests. And this helps to answer the question, Why seek a diagnosis at all when there is no intention to take the path of termination?

A prescription for change
It is a question especially relevant today, when women are starting their families later, since the risk for Down syndrome increases with maternal age. Women already in their 30s when they embark on motherhood may, as a result of prenatal diagnosis, find themselves confronted with a “choice” between having a disabled child and possibly having no child at all. These circumstances turn the spotlight even more intensely on the role of doctors, genetic counsellors and other health professionals in decisions about giving birth.

Fortunately for them, mothers have now provided ample advice on how they can fine-tune their approach, and Skotko has distilled their recommendations regarding postnatal diagnosis into a 10-point prescription. Recommendations regarding prenatal diagnosis include the discussion of all reasons for this process—reassurance, advance awareness and consideration of adoption, as well as pregnancy termination. “Health care providers should appreciate that many women consent to prenatal testing with ambivalence or no intent whatsoever to terminate,” Skotko stresses.

Above all, doctors need to educate themselves about the potential of children with Down syndrome and, whatever the circumstances, approach the task of informing parents in a balanced way. As one spirited mother puts it, “While obviously the downside must be explained, the upside should as well. When our second son (without DS) was born, no one told us that he wasn’t going to go to Harvard, yet the statistical likelihood he will is nil. Yet parents of children [with DS] are told their sons and daughters will not drive (but many young adults with DS do), won’t go to college (again not true), will have serious medical problems (not all do), and ‘won’t make change for the bus’ (just you wait and see).”

In the end, mothers are not asking for a lot. It was enough for many in the studies that their doctor said, “Love your child like any other child,” or, “Your child is going to bring great richness and warmth to your family and community,” for them to be happy about the birth of their child. A little professional warmth evidently goes a long way.

Skotko concludes: “Mothers in my studies have shown that when physicians deliver the information with sensitivity and with resources, the families can work more quickly through their stages of shock and grief and begin to celebrate their child for the riches he or she will bring to the world. Simply ask a parent of a child with this disability right now: Is having a child with Down syndrome a positive experience? They will most certainly tell you that their child brings joy to their family.”

NB: A list of the most current literature on this subject can be found at the National Down Syndrome Congress website.

Carolyn Moynihan is deputy editor of MercatorNet

Notes

 (1) “Mothers of Children With Down Syndrome Reflect on Their Postnatal Support,” Pediatrics Vol. 115 No. 1 January 2005
 (2) “Prenatally diagnosed Down syndrome: Mothers who continued their pregnancies evaluate their health care providers,” American Journal of Obstetrics and Gynecology (2005) 192, 670-7
 (3)  See, for example, David Mutton et al, “Trends in prenatal screening for and diagnosis of Down’s syndrome: England and Wales, 1989-97, British Medical Journal 1998;317:922-923