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
Brian Skotko
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