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PEOPLE WITH DOWN'S SYNDROME AT ALL AGES: Some
Tips for Family Physicians
Stephen Trumble (Australia)
Introduction:
General practitioners will be called upon to provide medical care
to people who have Down's syndrome through their lives and in
some cases unfamiliarity with the syndrome may compromise the
quality of that care. This article, published in Australia during
Down's Syndrome Week in 1993, aims to assist General Practitioners
in the provision of quality medical care to people with Down's
syndrome and their families, from diagnosis to old age.
Background:
There is evidence in ancient art that people with trisomy 21 have
existed for thousands of years, but it was not until 1866 that
Dr John Langdon Down first remarked on the facial similarities
of a group of his patients with intellectual disabilities. Unfortunately,
he used racial descriptors such as "mongol" to describe
their appearance which led to a century of inaccurate and misleading
terminology. People who have Down's syndrome and their advocates
are understandably sensitive about the words used to describe
this chromosomal condition. With the identification of the chromosomal
basis of Down's syndrome in 1959, a gradual process of acceptance
of trisomy 21 as being a variation of normal has done a lot to
remove some of the disability and end uninformed debates over
the "humanity" of people with Down's syndrome.
Apart from using the term "mongol", another way to get into
a heated discussion is to refer to a person as "suffering from Down's
syndrome". This is a nonsensical statement as the syndrome in itself
is not painful or distressing. The phrase "a person with Down's syndrome"
is accurate, non-pejorative and reminds us that the patient is, indeed,
a person first.
Down's syndrome is the commonest identifiable cause of intellectual disability,
accounting for almost one third of cases. It occurs equally in all races
with an overall incidence of approximately 1 in 800 births. This is much
lower than the actual conception rate, due to a high incidence of spontaneous
and surgical abortion. The increase in incidence with advancing maternal
age is well-known but what is not commonly realised is that most children
with Down's syndrome are born to mothers who are less than 30. This is
due to a greater number of pregnancies in this age group compared to the
older group.
95% of cases of Down's syndrome are caused by trisomy 21, with unbalanced
translocations of chromosome 21 and mosaicism accounting for the
remainder. The extra chromosome is maternal in origin in at least
90% of cases.
Click here to see a related article about the History
of Down's Syndrome
PRENATAL SCREENING:
The medical profession has been criticised for allowing technical
advances to outstrip our ability to deal with the ethical issues
which they raise. It is heartening, therefore, to see paternalism
being replaced by a conscious effort on the part of doctors to
act as expert informers who allow parents to make their own decisions
based on accurate facts. While the technical procedures require
a high level of skill to be performed well, an even higher level
of skill is required to handle the results appropriately.
Click here to see a related article about recent developments in Antenatal
Screening
WHEN DOWN'S SYNDROME IS DIAGNOSED:
Giving the diagnosis of Down's syndrome to parents, either antenatally
or in the immediate postpartum period, requires all of the doctor's
communication and counselling skills. It is the general practitioner
to whom most parents would prefer to turn for this information.
Giving the prenatal diagnosis:
Although parents should have been prepared for the diagnosis of
Down's syndrome before the test took place, even the best pre-test
counselling does little to offset the shock of an unexpected diagnosis.
Initial shock and denial can be anticipated as part of a sudden
shift in parental expectations. Most parents experience a need
for concise, accurate and non-judgemental information on which
to base their decision. Contact with the Down's Syndrome Association
might be helpful if the parents are agreeable.
One of the great challenges
for doctors when trisomy 21 is detected prenatally is to give a balanced
and complete explanation of the options available to the parents so that
they can come to an informed decision whether to continue with the pregnancy
or not. This includes giving accurate information about Down's syndrome
and the range of expectations they could have for the child, while not
trying to be impossibly predictive.
If termination of pregnancy is selected after adequate discussion,
the full impact of that procedure must be explained. Careful follow
up should be arranged to ensure that an appropriate grieving process
for the loss of the pregnancy takes place. Insensitive statements
such as "Forget this one and start again" are cruel
and ignorant. The detection of trisomy 21 prenatally does not always result in the
termination of that pregnancy. During pre-test discussions with
the parents, when information is given about the conditions being
sought, it might become apparent that the couple would not choose
to abort an affected pregnancy but just want to know as much as
possible so that they can be prepared for the baby's arrival.
It is vital that all couples be adequately prepared for any screening
tests so that they understand what the test is for, what its dangers
are and what options are available should the test be positive
for the condition being sought.
Giving the postnatal diagnosis:
The way in which the diagnosis of Down's syndrome is communicated
is another area where the consumers of our medical services have
expressed dissatisfaction.
The firm diagnosis of Down's syndrome on phenotypic grounds is usually
possible immediately after delivery. The doctor who tries to avoid
making the diagnosis for a few days until the karyotype is known
will only be pre-empted by a grandparent. It is essential to inform
the parents, at least of your suspicions, as soon as possible
after delivery.
The Delivery Suite diagnosis of Down's
syndrome should follow this plan:
- As soon as the
baby is delivered congratulate the parents on the birth of their child.
- Advise them whether the baby is healthy or not and explain any immediate
resuscitative procedures you are performing.
- As soon as third stage is complete and the baby is stabilised, ensure
that you can have some time alone with both parents and the
baby. Many parents will already have sensed an apprehensive
atmosphere in these few minutes. A midwife who has been involved
with the delivery may be an invaluable support.
- State your clinical diagnosis and, if necessary, your degree of certainty.
An opening statement could be: "She looks very healthy
but I have some news for you that you might not have been expecting.
Your baby has Down's syndrome." You should be touching
the baby as you say this and using her name, indicating your
acceptance of the child. No new parent wants their doctor to
treat their baby with repugnance.
- After dealing with any immediate denial statements from the parents,
it is necessary to evaluate their understanding of the diagnosis
("What do you understand by the term Down's syndrome?").
It may become evident that they have little knowledge about
the condition or they are weighed down with myths and misunderstandings.
These should be corrected carefully.
- It is impractical to fully educate the parents of a baby with Down's
syndrome immediately after delivery. Enough information should
be given so as to answer their immediate questions and support
them until later in the day when more detailed discussions can
take place. Immediate information should include a synopsis
of the aetiology of the syndrome, a defusing of either parent
"blaming" the other, and a description of investigations
and procedures which are necessary to fully evaluate the child's
health.
- A complete discussion of the diagnosis should take place once the
parents are at least partially recovered from the immediate
stress of delivery, usually within twenty four hours. By this
time there will be a barrage of questions which will need to
be answered accurately and adequately. Every effort should be
made to have both parents at this meeting. Again the child should
be present as the focus of the discussions and should be held
by the parents. It is still too early to overload the parents
with every minute fact so there is a need to be sensitive to
their particular rate of uptake of these new and complex concepts.
- Do not try to be to predictive. It is nonsense to try to foresee the
future for any child with accuracy. Perpetuating myths such
as "at least he'll always be loving and enjoy music"
is inexcusable. A "broad brush" picture should be
painted which recognises every child's capacity to develop individually.
- Family and friends can be a source of great support but they may also
need information and education. The Down's Syndrome Association
offers ongoing support to parents of babies with Down's syndrome,
including support from parent who have had a child with Down's
syndrome.
- It may be helpful for relations to bring in photos of the parents
as neonates. This allows the parents to compare the baby's facial
characteristics with their own and see that it is their baby,
not a "Down's baby".
- Most doctors understand
the parents' need to have time alone but also to feel confident in approaching
the doctor at any time for more information. An open-door policy is
essential. When a case of Down's syndrome is delivered, a child is born.
This simple fact is so often overlooked in the storm of emotional upheaval
that the new mother and father are rarely congratulated on becoming
parents. One mother was even sent an "In Sympathy" card the
day after she delivered a healthy baby who had Down's syndrome . Less
than thirty years ago some Australian doctors used to advise their patients
to place their Down's syndrome babies in institutions and tell their
relations they had been stillborn. Although this sort of approach no
longer exists, very occasionally the parents of a newborn with Down's
syndrome will decide that, for whatever reason, they are unable to accept
the child. In this situation the options include foster care or adoption
and it is obviously not a decision to be taken lightly. The doctor's
role is again that of an informed counsellor, not a judge.
The process of coming to terms with having given birth to a
child with Down's syndrome has been likened to the well-known
grief reaction which occurs after the death of a child. Stages
such as denial, anger, acceptance, for example, are recognisable
and parents are said to be grieving for the loss of their expected
"perfect" child. While this view has some small merit,
it fails to address the long term and varying nature of the
readjustment process in the case of the family of a child with
Down's syndrome. After all, the child has not died.
MEDICAL CARE OF PEOPLE WITH DOWN'S SYNDROME: Although Down's syndrome is not a medical illness, there are a number
of pathological processes which are more common in people who
have the condition. These associations will necessarily bring
people with Down's syndrome into frequent, and at times intensive,
contact with doctors. Neonatal period: Immediately after
delivery the child should be fully examined to confirm the diagnosis
and to identify any immediate medical problems. Paediatric consultation
is appropriate in most situations. Cardiac: Congenital heart disease,
usually in the form of endocardial cushion defects, affects 40%
of babies and should be screened for by echocardiography soon
after birth as it may well be difficult to detect. Septal defects
and Fallot's tetralogy also occur. The discovery of severe congenital
malformations often raises the issue of how interventive to be.
It must be emphasised that exactly the same medical and surgical
treatment should be instituted for a child with Down's syndrome
as for a child without a chromosomal disorder.
Severe congenital
heart disease remains a major killer of children with Down's syndrome,
despite advances in surgical treatments. In the absence of a congenital
heart defect, however, the majority of children can expect to live into
their sixth decade.
Gastrointestinal: The commonest
congenital abnormality of the gastrointestinal tract associated
with Down's syndrome is duodenal atresia, although pyloric stenosis,
Hirschsprung's disease and tracheo-oesophageal fistulae have all
been reported. Again, surgical intervention should be evaluated
without reference to the chromosomal disorder. The total incidence
of GIT malformations is approximately 12%. Vision: Three percent of newborn
babies with Down's syndrome will have dense congenital cataracts
which should be removed early. Glaucoma is also more common. Feeding: Hypotonia is a constant
feature of neonates with Down's syndrome. This floppiness can
interfere with breastfeeding and an experienced lactation consultant
may need to be involved to ensure that the process is successful.
Feeding tends to take longer and there may be attachment problems
due to a protuberant tongue. Some babies experience difficulty
maintaining temperature and may need extra swaddling during feeding.
Constipation is more common due to hypotonic gut musculature. Congenital Hypothyroidism: This condition
is slightly more prevalent in babies with Down's syndrome. It
should be detected by the routine heelprick screen performed on
all neonates. Congenital dislocation of the hips:
Joint laxity and hypotonia can combine to increase the incidence
of hip dislocation, although true congenital dislocation is quite
rare. Extra care should be taken during the usual neonatal examination.
Infancy:
Once any urgent medical conditions have been addressed and feeding has
been successfully established, the parents will take their new
baby home. If the general practitioner has not been involved during
the in-patient stay, early contact is important to allow an assessment
of the child's baseline medical condition. This "well child
check" means that the doctor need not be confronted for the
first time by an unfamiliar and obviously sick child several months
later. Medical care in the first year of life will include the continued management
of any problems identified in the neonatal period as well as surveillance
for acquired problems such as hearing or visual impairments. Early
and regular contact with appropriately-experienced consultants
should begin in the first year. Seizure disorders are more common in children with Down's syndrome (approximately
10%) and can occur from an early age. They are usually tonic clonic
in nature. People with Down's syndrome have reduced cell-mediated immunity and so
babies in particular are likely to suffer more respiratory infections.
Upper airway obstruction is also more common due to hypertrophy
of tonsils and adenoids. This alteration in immunity has also
been implicated in the observed increase in incidence of leukaemia
in people with Down's syndrome, although the link is not clear.
In practical terms the decrease in immunity has little impact.
The normal childhood immunisation program should be commenced
at the usual time.
Click here to see a related article about Immunology
The philosophy of "early intervention" is now well accepted
as having benefits for the child and family. This refers to home-based
or centre-based treatment of a disabled child by a variety of
health professionals such as occupational therapists, physiotherapists
and speech therapists from a very early age. The parents are also
involved as therapists. These recognised, government-sponsored
programs tend to be preferable to the so-called "fringe"
therapists who can be exhausting of parental resources without
producing many results.
Childhood:
As the child grows through the preschool years it will become
evident that development is globally delayed. Physical milestones
will be delayed due to hypotonia and joint laxity, speech is likely
to be difficult and socialisation may be delayed. Psychometric
evaluation shows that most children with Down's syndrome have
intellectual functioning in the moderately disabled range but
the range is enormous. At this time it is useful to assist the
parents in recognising that a different set of milestones is relevant
for this child, and that comparing its progress to that of siblings
is not much help. Comparing notes with other parents of children
with Down's syndrome is helpful but it must be remembered that
each child will follow their own path. It is important not to
make too many predictions as to how far and how fast the child
will develop but the mood should be one of optimism and reasonable
expectations, as for all children.
The general practitioner's lifelong relationship with the child should
be developing well at this point. Familiarity with what is normal
for that child will allow the early recognition of any health
problems, as will an awareness of which medical conditions are
more common. Beyond that, however, the astute GP will remember
that the child with Down's syndrome is susceptible to the same
range of childhood problems as any other and that not all symptoms
will be due to the syndrome. The GP's approach to a child with Down's syndrome should be the same
as to any other child: friendly, non-threatening and interactive.
The parents are invaluable sources of information about the child
and, after several years of hard work, will have become staunch
advocates and "bureaucracy-busters". Their concerns
should be addressed. Having been involved in early intervention and preschool programs, most
children with Down's syndrome are well-equipped for entry to mainstream
schooling at the usual time. There remains a lot of debate over
the relative merits of mainstreaming versus special schooling
which is outside the scope of this article. The doctor's role
is generally to support the parents in their decision making and
to address any medical issues which may arise when selecting a
school. Congenital
Heart Disease: Severe malformations which cannot be
definitively treated remain a major cause of morbidity and mortality
throughout childhood. Close liaison with a paediatric cardiologist
should be maintained. Sensory deficits: Significant hearing
impairments occur in the majority of children with Down's syndrome.
Annual audiometry and specialist consultation is recommended.
Visual impairment due to refractive errors or strabismus is also
common and should be checked annually. Cataracts often develop
but are usually outside the visual axis. Hypothyroidism: With a lifetime incidence
of anything up to 30%, hypothyroidism must be screened for on
a regular basis. Although most cases develop in teenage years,
biannual biochemical screening of younger children is recommended.
If any symptoms of thyroid disease are detected, early investigation
and treatment are essential. Atlantoaxial instability: There has
been a lot of controversy as to the correct approach to this problem.
Up to 15% of children with Down's syndrome will have radiological
evidence of instability of the atlantoaxial joint but in only
a handful of cases will this instability result in an impingement
on the spinal cord with resultant neurological signs. The controversy
arises over whether to screen radiologically all people with Down's
syndrome and if so, when. If instability is detected, is it fair
to limit a person's sporting and recreational pursuits in an attempt
to prevent the rare complication of damage to the spinal cord?
Subtle neurological signs are sometimes difficult to detect in
people with Down's syndrome and the surgery involved in stabilising
the joint is major. The current consensus is marginally in favour of radiological screening
before school entry, mainly to reassure the parents of the large
majority of children who will be found to have stable AA joints.
If instability or anatomical abnormalities are detected, careful
counselling should ensure that activities are modified appropriately
without restricting the child unnecessarily. Neurological surveillance
is essential. Some authorities recommend a second set of screening
radiographs before entry to high school for all children with
Down's syndrome although there is little evidence to support the
concept of development of instability.
Physical
growth:
Physical development is invariably delayed in children with Down's syndrome
and modified percentile charts are available for accurate monitoring.
A tendency towards obesity requires special attention to healthy diet
and exercise habits.
Dental care: The teeth of children
with Down's syndrome tend to be small, irregularly spaced and
misshapen. Early and frequent dental care is required to ensure
adequate dentition for adult life.
Please click here for a further article on children
with Down's Sydrome
Adolescence:
Having Down's syndrome does not protect against the hormonal maelstrom
which usually accompanies adolescence. All the usual trials and
torments of this potentially difficult phase of development have
to be negotiated. This includes adolescents trying to establish
their own identity, find some private space and pursue their own
interests.
People with disabilities are sexual beings and those with Down's syndrome
are no exception. It is a grave injustice to hold a stereotype
of people with Down's syndrome as being "happy eternal children",
as any parent will agree. Teenagers with Down's syndrome are subject
to the same tempers, desires and emotions as anyone else, although
they are often more frustrated in their expression.
Some specific medical
conditions need attention:
Menstruation & sexuality: Menarche is usually only
slightly delayed in girls with Down's syndrome. Menstruation usually
settles into a regular pattern and, although many cycles will
be anovulatory, fertility should be presumed. There are approximately
thirty cases in the world literature of women with Down's syndrome
becoming pregnant. There is a long history of women with Down's syndrome having their menstruation
and fertility controlled through the use of medication such as
progesterone or surgical intervention. Little attention was paid
to the woman's needs and even less to providing appropriate education
on menstrual hygiene, relationships and contraception. A hysterectomy
does not protect against sexual abuse, particularly when women
with Down's syndrome are seen by many as compliant and helpless.
More enlightened thinking has allowed these women to successfully
manage their own menses and to make decisions about contraception,
based on appropriate information from expert counsellors. It is hard to justify involuntary menstrual suppression or sterilisation
unless there are major medical indications. In Australia, a recent
High Court decision has given the Family Court responsibility
for consenting to sterilising procedures on children. Most states
have legislation giving intellectually disabled adults the same
protection through Guardianship Boards. Adolescent boys with Down's syndrome usually experience the same sexual
drives and frustrations as their peers. There is at least one
recorded case of a child being fathered by a man with Down's syndrome. Education about appropriate sexuality is essential. One of the great
obstacles to developing healthy sexual expression for people with
Down's syndrome is the lack of information which other teenagers
have access to through a variety of community sources. Family
Planning clinics can often be of assistance to families and General
Practitioners in this area. Hypothyroidism: As most cases of
hypothyroidism in people with Down's syndrome develop during the
teen years, surveillance should be increased to yearly thyroid
function tests along with an increasing index of suspicion as
to whether this condition could be behind unusual clinical presentations.
Skin:
The skin of children with Down's syndrome tends to be dry
and susceptible to eczema. During adolescence, folliculitis and boils
become more common. Alopecia areata is a common manifestation of the disordered
autoimmunity which may accompany Down's syndrome.
Adulthood:
Changes in the approach to people with Down's syndrome in the
latter part of the 20th century has resulted in a threefold increase
in their life expectancy. Better and more active medical care
coupled with community living have been largely responsible. It
is only in the last few decades that people with Down's syndrome
could reasonably expect to reach adulthood. If the first five
years of life (when most cardiac deaths occur) are survived a
person with Down's syndrome has an 80% chance of reaching the
third decade and a 60% chance of living beyond fifty. The average
age of death for a person with Down's syndrome is in the mid-fifties.
All this means that general practitioners need to employ the same
preventive health skills as they do for the rest of the community
so that people with Down's syndrome can be healthy into old age.
People with Down's syndrome still complain about the way they are perceived
by some doctors. A man of twenty five should not be called a "boy".
He has usually moved out of the family home and is working in
an adult centre. He is probably able to answer questions about
his health and should be given the opportunity to do so. He is
an adult and should be treated as such. Medical procedures should
be explained to him in appropriate language and consent should
be gained in the usual way. If there is any likely controversy over a medical treatment or procedure
for an adult with Down's syndrome, a guardian may need to be appointed
to make decisions on behalf of that person. This only applies
if the person is not competent to give informed consent and it
is one of the few areas of the law where common sense has a large
role to play. Usually a parent or concerned friend can be seen
to be clearly capable of making decisions which are in the best
interests of the disabled person. Preventative care: The usual range
of preventative health activities should be offered to adults
with Down's syndrome. The usual protocols apply for cervical cytology,
breast screening and cardiovascular risk factor monitoring. Diet
and exercise advice should be realistic, comprehensive and adapted
for the person's living and employment situation where necessary. Hypothyroidism: Throughout the adult
years vigilance for thyroid dysfunction should be maintained with
annual thyroid function tests. Sensory deficits: On-going contact
with eye and ear specialists is advisable during adult life due
to a high prevalence of acquired problems such as cataracts, keratoconus
and sensorineural hearing loss. Behavioural
problems: One of the most difficult challenges confronting
a GP in treating a person with intellectual disabilities is the
assessment and management of difficult behaviours. Our predecessors
seem to have relied heavily on the use of major tranquillisers
as a way of quelling angry outbursts or destructive behaviour,
but this approach does nothing to identify the root cause of the
problem. People with disabilities rarely behave in a destructive
or violent way unless there is a reason. It may be something intrinsic
to the person, such as depression or tooth ache. It may be due
to a change in that person's life situation, such as a change
of residence or employment. Or it may be due to interpersonal
conflict. The doctor's role is to seek the underlying cause of
the problem through a full assessment rather than just to suppress
the symptoms. Psychiatric disorders: Psychiatric
illnesses occur in people with Down's syndrome with much the same
frequency as in the rest of the population. This is a difficult
area for psychiatrists, but there are now a number who specialise
in intellectual disabilities and, with other medical and social
services professionals, are providing comprehensive mental health
services to people with intellectual disabilities.
Click here to see a related article about depression
Dementia: Much recent attention
has been focussed on the association between Down's syndrome and
Alzheimer's disease. There appears to be a gene-dose effect where
having an extra chromosome 21 gives an individual a higher chance
of developing the neuropathological changes of Alzheimer's disease,
which are coded for on that chromosome. The association is so
strong that some authorities are advocating the inclusion of Alzheimer's
disease as one of the invariable features of the syndrome, although
it is always a diagnosis of exclusion after other, reversible
causes of dementia have been excluded. Late onset epilepsy is
often seen in association with Alzheimer's disease.
Click here to see a related article about ageing
and dementia
From a practical point of view it is helpful to be aware of this association.
Due to the increased life expectancy of people with Down's syndrome,
most of our patients can be expected to show signs of dementia
as they age. The recognition of declining intellectual functioning
and loss of some social skills may assist the GP in suggesting
appropriate strategies to help the patient and family. These may
include a move to more appropriate accommodation, involvement
in generic geriatric services and contact with specialised support
agencies.
Summary:
People with Down's syndrome are part of our community and as such
are part of the GP's patient population. While there are some
medical conditions which are more common in people with an extra
chromosome 21, there is nothing which is unique to this group
or which is totally outside the scope of general practitioner
involvement. The key to good quality care is to be familiar with
the syndrome but, more importantly, to know the person who has
the syndrome.
The advocacy efforts of people with Down's syndrome and their
families have resulted in huge improvements in life quality and
expectancy. The medical profession is attempting to match these
developments by becoming more sophisticated in its approach to
ethical issues, more energetic in its provision of care and more
cooperative in its interactions with people who have Down's syndrome
and their families.
This article was first published on the site in 2002.
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