Memorandum 3
Submission from the Lejeune Clinic for
Children with Down Syndrome
A response to the Parliamentary Science and Technology
Committee reviewing the Abortion Act 1997
With an incidence of 1:700 live births Down's
Syndrome is the commonest chromosomal abnormality in man. It was
first described in 1866 by John Langdon Down and the trisomy of
chromosome 21 resulting in genetic imbalance was discovered by
Lejeune and Turpin in 1959. In the regular form which occurs in
94% of cases the triplication of chromosome 21 is caused by a
process of non-disjunction which is related to maternal age. The
risk is 1 in 1500 mothers aged 15-29 years but increases to 1
in 100 mothers aged 40-47 years.
Introduction
The Lejeune clinic for Children with Down's
Syndrome has been in existence for 14 years and is based at the
Hospital of St John and St Elizabeth in London. The clinic carries
out medical and developmental assessments and addresses a number
of practical problems. It has seen over 200 children with Down's
Syndrome and has heard a great deal from parents of their experience
of pregnancy and the subsequent difficulties with their children's
health and education. Moreover, it provides parents with an opportunity
to raise their own questions and relate their own experiences.
It is the only independent and charitable clinic of its type in
the country. It is staffed by senior paediatricians, speech and
language therapists and occupational therapists who also work
in the NHS. The paediatricians are all members of the Down's Syndrome
Medical Interest Group which is the leading authority in the country
on Down's Syndrome in children. The clinic staff communicate directly
with the primary and secondary care teams already involved in
the child's care.
THE PURPOSE
OF THE
CLINIC
This is based on a whole hearted acceptance
of the child and his or her family and a commitment to helping
the child to reach his full potential. Not all the parents attending
had decided against an abortion but in many cases screening tests
had failed. The alpha foeto-protein (AFP) screening test and index
performed on blood in early pregnancy has a significant false
negative result. The offer of later amniocentesis and chromosome
analysis at or about 20 weeks is dependent on this index. Some
women decline the test but most take it in a routine fashion whether
knowlingly or not. It is not generally known that the main blood
screening test in early pregnancy is falsely negative in up to
30% of cases. Ultra sound examination, which can be diagnostic,
often fails and only the chromosome analysis after amniocentesis
is nearly 100% reliable, but it can cause miscarriage in a small
percentage of cases and is only available from 20 weeks by which
time the mother can feel her baby moving. Other chromosome tests
are feasible in early pregnancy but are not generally available.
As a result some 450 children are born each year in England and
Wales with Down Syndrome.
ABORTIONS PERFORMED
FOR DOWN'S
SYNDROME IN
THE LAST
5 YEARS
2001 | 347 abortions
| 381 births |
2002 | 372 abortions | 358 births
|
2003 | 401 abortions | 404 births
|
2004 | 491 abortions | 475 births
|
2005 | 429 abortions | 453 births
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"Births" includes both live and still births. Given
the known prevalence which is the same world wide this means that
some pregnancies with a child with Down Syndrome are being missed.
These may well be amongst the still born.
These are ONS figures given in Parliament 27/7/07 in response
to a question.
THE FREQUENT
EXPERIENCE OF
WOMEN WHO
DECLINE TESTS
Women who decline ante natal test often have difficult experiences.
They may be motivated by a moral objection to abortion or it may
be a very "precious pregnancy", being in some cases
the only chance that a woman has to have a child. It is our experience
that even if a woman would have opted for abortion, that once
the baby is born there is close bonding and often a protective
response. All of these mothers, without exception, want the best
for their child. In my 30 years as a consultant paediatrician
I have never known a child with Down's Syndrome to be abandoned
in a British hospital.
It is hard to summarise what we have heard but I think almost
all mothers of children with Down Syndrome would subscribe to
the sentiments expressed below in the "Down Syndrome Association
of Queensland: Position Statement on Pregnancy Testing".
People with down Syndrome are valuable human beings who deserve
respect and equality. All people with Down Syndrome have the potential
to lead full and rewarding lives and make an important contribution
to our community.
Down Syndrome is not a reason for termination. We recognise
a valid role for prenatal genetic testing, but the primary goal
of prenatal testing should not be to reduce the birth prevalence
of Down Syndrome. Prenatal testing should not be offered or promoted
using outdated information, negative stereotypes, prejudicial
images or offensive terminology which have the potential to stigmatise
people with Down Syndrome and increase the fear of disability.
Prenatal testing must be voluntary. The trend towards routine
testing does not remove the obligation to obtain informed consent.
Pregnant women and their partners must be advised that they can
refuse testing. They must not be subject to pressure to undertake
a particular test or terminate a pregnancy or make a decision
in undue haste.
The decision to continue or terminate pregnancy belongs to
the individual woman or couple alone. Counselling and support
should be available regardless of the individual choice.
Couples who continue pregnancies following positive diagnosis
should not be denied access to services or benefits.
The British Down Syndrome Association have long held the
view that an uncomplicated Down Syndrome is not sufficient grounds
for abortion.
Anecdotal evidence from mothers attending the clinic points
to breeches of virtually all of these recommendations. Women report
that they were repeatedly asked if they want a termination each
time they attended antenatal clinic, whether or not they had already
communicated their decision to proceed with the pregnancy. This
may, in part, be due to them seeing a different midwife each time
but their decision not being passed on. Some women felt that they
were expected to have an abortion and very few were offered accurate
or positive information on the real expectations of life with
a child with Down Syndrome.Indeed many of them had had to carry
out their own research on the internet. One commented "I
only ever heard anything positive when I contacted a self help
parent group".
There were a few anecdotes which caused great concern. The
worst was of a woman who was asked if she would have an amniocentesis
just before the baby was due in order to make the diagnosis so
that the medical team would know "whether to resuscitate
the baby or not". The mother in question was a mature single
woman who felt that this was the lowest point in her pregnancy.
She was a solicitor, but did not want to complain formally and
the experience remained with her for years. Unwillingness to complain
is a feature of women in this situation and they are particularly
vulnerable.
It cannot be emphasised too strongly that, unlike other situations
in which abortion may be carried out, these are nearly all wanted
babies and the emotional problems arising from their abortion
are consequently greater.Futhermore, late abortions, including
in some cases lethal intrauterine injections, are particularly
traumatic. These women are at particular risk of post traumatic
stress disorder.
RECOMMENDATIONS BASED
ON THE
CLINIC EXPERIENCE
(a) Women need accurate information which goes beyond
medical facts and many would welcome the possibility of a discussion
with parents who are already raising such a child. It would be
good medical practice to encourage this and our experience shows
that suitable volunteers can be recruited to such a scheme. Many
mothers have had to do their own internet search to find information
and find that this, or self help groups are their sole source
of encouragement.
(b) When a decision has been made to proceed with the
pregnancy it should be clearly documented and placed prominently
in the records so that the question is not repeatedly raised and
women do not feel unduly pressurised to change their decision.
(c) Staff dealing with women in antenatal clinics need
to be better informed about Down Syndrome.
CHANGING SOCIAL
ATTITUDES
Society's attitude towards people with Down's Syndrome is
changing and they are no longer being deprived of family life
and especially through "inclusive education" are becoming
more accepted in society in their own right. Many achieve semi-independence
and some are totally independent earning their own living, driving
cars etc. Many gain employment in supermarkets stacking shelves
and many in kitchen work.
It is virtually unknown for Down Syndrome people to be in
conflict with the law. Questioning Magistrates with over 50 years
experience between them, none had seen a Down Syndrome person
in court. This says something about their nature and general character.
SOME RELEVANT
FINDINGS WITH
THE CHILDREN
1. Most children with Down's Syndrome are happy.
2. Most are sociable and enjoy friendships.
3. Most are well integrated into mainstream play groups
though some also attend pre school groups for children with special
needs.
4. 80% attend mainstream primary school either full or
part time.
5. Virtually all are mobile.
6. All save the autistic communicate by speech or signing
or a combination of both. Some have near normal communication
skills.
7. Nearly all integrate in a loving fashion into their
families.
8. Challenging behaviour can occur and stubbornness and
frustration especially over lack of communication but this can
be helped.
9. They may suffer from a variety of medical problems
including congenital heart disease (50%), variable deafness, thyroid
deficiency (30%) at some point in childhood, visual defects and
other health problems including responsive leukaemia. Virtually
all these problems are amenable to treatment which is often very
effective, for example death in late childhood from uncorrectable
heart defects is now virtually unknown. A minority have a childhood
marred by chronic illnesses.
10. Average life expectancy is about 56 years and is
rising
11. The range of ability of children with Down's Syndrome
is as wide as the range in typically developing children. The
top of the Down Syndrome range overlaps the lower end of the range
of typically developing children.[1]
Children with Down's Syndrome learn better if visually oriented
methods are used but they can usually cope in mainstream primary
school and many in mainstream secondary school with the help of
teaching assistants.
12. People with Down Syndrome often develop Alzheimer's
type dementia at about 20 years earlier than the normal population
and by the age of 70 years 100% of people with Down Syndrome have
developed it. This compares with 40% of the average population
of over 80 year olds. Much research is now being directed towards
this using a Down's mouse model. The 21 chromosome has now been
fully sequenced (decoded) and the role of amaloid related
genes is the subject of great interest. The clear identification
of animal and human Downs means they can be the focus of research
into Alzheimer's disease generally. At present this remains the
main long term medical problem for adults with Down's syndrome.
CONCLUSIONS
1. In the light of what we have learnt, it is hard to
see how the majority of children with Down Syndrome fulfil the
criteria for abortion on the ground of serious untreatable disability.
2. Only a small number of children come into this category
though it is not possible to predict them before birth or indeed
in the first few years. The majority suffer from moderate learning
difficulties and treatable physical health problems.
3. In the light of this we would like the committee to
redefine "serious disability" in the context of Abortion
law.
4. We would like the question of informed consent and
accurate counselling to be taken more seriously with the possibility
of access to families with children with Down Syndrome being provided
for pregnant women. We would like to see a suitable form or stamp
in the records to indicate if women have decided to proceed with
a pregnancy to prevent the subject being repeatedly raised. This
could, however, be subject to more diagnostic information becoming
available later.
5. The question of consent and non consent to screening
or diagnostic tests needs to be clarified if women are not to
feel they are being pressurised into making a particular decision,
namely, that of proceeding to an abortion. Could this not be the
subject of regular patient audit?
6. We would particularly ask the committee to consider
what is required to make health professionals better informed
of the true nature and outcomes for children with Down Syndrome.
Is there a role for paediatricians or paediatric nurses taking
part in joint training programmes?
August 2007
1
Patricia Henshall. The Development of children with Down's
Syndrome BACCH News June 2007 Back
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